A heterogeneous group of disorders, some hereditary, others acquired, characterized by abnormal structure or function of one or more of the elements of connective tissue, i.e., collagen, elastin, or the mucopolysaccharides.
A syndrome with overlapping clinical features of systemic lupus erythematosus, scleroderma, polymyositis, and Raynaud's phenomenon. The disease is differentially characterized by high serum titers of antibodies to ribonuclease-sensitive extractable (saline soluble) nuclear antigen and a "speckled" epidermal nuclear staining pattern on direct immunofluorescence.
Tissue that supports and binds other tissues. It consists of CONNECTIVE TISSUE CELLS embedded in a large amount of EXTRACELLULAR MATRIX.
A chronic multi-system disorder of CONNECTIVE TISSUE. It is characterized by SCLEROSIS in the SKIN, the LUNGS, the HEART, the GASTROINTESTINAL TRACT, the KIDNEYS, and the MUSCULOSKELETAL SYSTEM. Other important features include diseased small BLOOD VESSELS and AUTOANTIBODIES. The disorder is named for its most prominent feature (hard skin), and classified into subsets by the extent of skin thickening: LIMITED SCLERODERMA and DIFFUSE SCLERODERMA.
Autoantibodies directed against various nuclear antigens including DNA, RNA, histones, acidic nuclear proteins, or complexes of these molecular elements. Antinuclear antibodies are found in systemic autoimmune diseases including systemic lupus erythematosus, Sjogren's syndrome, scleroderma, polymyositis, and mixed connective tissue disease.
An idiopathic vascular disorder characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or CYANOSIS in response to cold exposure or stress.
Historically, a heterogeneous group of acute and chronic diseases, including rheumatoid arthritis, systemic lupus erythematosus, progressive systemic sclerosis, dermatomyositis, etc. This classification was based on the notion that "collagen" was equivalent to "connective tissue", but with the present recognition of the different types of collagen and the aggregates derived from them as distinct entities, the term "collagen diseases" now pertains exclusively to those inherited conditions in which the primary defect is at the gene level and affects collagen biosynthesis, post-translational modification, or extracellular processing directly. (From Cecil Textbook of Medicine, 19th ed, p1494)
A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow.
A CCN protein family member that regulates a variety of extracellular functions including CELL ADHESION; CELL MIGRATION; and EXTRACELLULAR MATRIX synthesis. It is found in hypertrophic CHONDROCYTES where it may play a role in CHONDROGENESIS and endochondral ossification.
Antibodies that react with self-antigens (AUTOANTIGENS) of the organism that produced them.
A collective term for diseases of the skin and its appendages and of connective tissue.
Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis.
A diverse group of lung diseases that affect the lung parenchyma. They are characterized by an initial inflammation of PULMONARY ALVEOLI that extends to the interstitium and beyond leading to diffuse PULMONARY FIBROSIS. Interstitial lung diseases are classified by their etiology (known or unknown causes), and radiological-pathological features.
The protein components that constitute the common core of small nuclear ribonucleoprotein particles. These proteins are commonly referred as Sm nuclear antigens due to their antigenic nature.
A mild form of LIMITED SCLERODERMA, a multi-system disorder. Its features include symptoms of CALCINOSIS; RAYNAUD DISEASE; ESOPHAGEAL MOTILITY DISORDERS; sclerodactyly, and TELANGIECTASIS. When the defect in esophageal function is not prominent, it is known as CRST syndrome.
A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)
A group of cells that includes FIBROBLASTS, cartilage cells, ADIPOCYTES, smooth muscle cells, and bone cells.
Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES.
Disorders of connective tissue, especially the joints and related structures, characterized by inflammation, degeneration, or metabolic derangement.
Implants used to reconstruct and/or cosmetically enhance the female breast. They have an outer shell or envelope of silicone elastomer and are filled with either saline or silicone gel. The outer shell may be either smooth or textured.
Inflammation of a muscle or muscle tissue.
A chronic systemic disease, primarily of the joints, marked by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. Etiology is unknown, but autoimmune mechanisms have been implicated.
A nuclear RNA-protein complex that plays a role in RNA processing. In the nucleoplasm, the U1 snRNP along with other small nuclear ribonucleoproteins (U2, U4-U6, and U5) assemble into SPLICEOSOMES that remove introns from pre-mRNA by splicing. The U1 snRNA forms base pairs with conserved sequence motifs at the 5'-splice site and recognizes both the 5'- and 3'-splice sites and may have a fundamental role in aligning the two sites for the splicing reaction.
Endogenous tissue constituents that have the ability to interact with AUTOANTIBODIES and cause an immune response.
Diseases characterized by inflammation involving multiple muscles. This may occur as an acute or chronic condition associated with medication toxicity (DRUG TOXICITY); CONNECTIVE TISSUE DISEASES; infections; malignant NEOPLASMS; and other disorders. The term polymyositis is frequently used to refer to a specific clinical entity characterized by subacute or slowly progressing symmetrical weakness primarily affecting the proximal limb and trunk muscles. The illness may occur at any age, but is most frequent in the fourth to sixth decade of life. Weakness of pharyngeal and laryngeal muscles, interstitial lung disease, and inflammation of the myocardium may also occur. Muscle biopsy reveals widespread destruction of segments of muscle fibers and an inflammatory cellular response. (Adams et al., Principles of Neurology, 6th ed, pp1404-9)
A form of necrotizing non-granulomatous inflammation occurring primarily in medium-sized ARTERIES, often with microaneurysms. It is characterized by muscle, joint, and abdominal pain resulting from arterial infarction and scarring in affected organs. Polyarteritis nodosa with lung involvement is called CHURG-STRAUSS SYNDROME.
A term used to describe a variety of localized asymmetrical SKIN thickening that is similar to those of SYSTEMIC SCLERODERMA but without the disease features in the multiple internal organs and BLOOD VESSELS. Lesions may be characterized as patches or plaques (morphea), bands (linear), or nodules.
Disorders that are characterized by the production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides.
Mucoid states characterized by the elevated deposition and accumulation of mucin (mucopolysaccharides) in dermal tissue. The fibroblasts are responsible for the production of acid mucopolysaccharides (GLYCOSAMINOGLYCANS) in the ground substance of the connective tissue system. When fibroblasts produce abnormally large quantities of mucopolysaccharides as hyaluronic acid, chondroitin sulfate, or heparin, they accumulate in large amounts in the dermis.
Highly conserved nuclear RNA-protein complexes that function in RNA processing in the nucleus, including pre-mRNA splicing and pre-mRNA 3'-end processing in the nucleoplasm, and pre-rRNA processing in the nucleolus (see RIBONUCLEOPROTEINS, SMALL NUCLEOLAR).
Complexes of RNA-binding proteins with ribonucleic acids (RNA).
Inflammation of any one of the blood vessels, including the ARTERIES; VEINS; and rest of the vasculature system in the body.
The thin, horny plates that cover the dorsal surfaces of the distal phalanges of the fingers and toes of primates.
A broad family of synthetic organosiloxane polymers containing a repeating silicon-oxygen backbone with organic side groups attached via carbon-silicon bonds. Depending on their structure, they are classified as liquids, gels, and elastomers. (From Merck Index, 12th ed)
A group of interstitial lung diseases with no known etiology. There are several entities with varying patterns of inflammation and fibrosis. They are classified by their distinct clinical-radiological-pathological features and prognosis. They include IDIOPATHIC PULMONARY FIBROSIS; CRYPTOGENIC ORGANIZING PNEUMONIA; and others.
An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE, dilation of the AORTA, and aortic dissection. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome is associated with mutations in the gene encoding fibrillin, a major element of extracellular microfibrils of connective tissue.
A glucocorticoid with the general properties of the corticosteroids. It is the drug of choice for all conditions in which routine systemic corticosteroid therapy is indicated, except adrenal deficiency states.
A process in which normal lung tissues are progressively replaced by FIBROBLASTS and COLLAGEN causing an irreversible loss of the ability to transfer oxygen into the bloodstream via PULMONARY ALVEOLI. Patients show progressive DYSPNEA finally resulting in death.
The noninvasive microscopic examination of the microcirculation, commonly done in the nailbed or conjunctiva. In addition to the capillaries themselves, observations can be made of passing blood cells or intravenously injected substances. This is not the same as endoscopic examination of blood vessels (ANGIOSCOPY).
Any one of five terminal digits of the vertebrate FOOT.
The branch of surgery concerned with restoration, reconstruction, or improvement of defective, damaged, or missing structures.
A multisystemic disease of a complex genetic background. It is characterized by inflammation of the blood vessels (VASCULITIS) leading to damage in any number of organs. The common features include granulomatous inflammation of the RESPIRATORY TRACT and kidneys. Most patients have measurable autoantibodies (ANTINEUTROPHIL CYTOPLASMIC ANTIBODIES) against neutrophil proteinase-3 (WEGENER AUTOANTIGEN).
Arthritis is a general term used to describe inflammation in the joints, often resulting in pain, stiffness, and reduced mobility, which can be caused by various conditions such as osteoarthritis, rheumatoid arthritis, gout, or lupus.
Small RNAs found in the cytoplasm usually complexed with proteins in scRNPs (RIBONUCLEOPROTEINS, SMALL CYTOPLASMIC).
An immunoassay utilizing an antibody labeled with an enzyme marker such as horseradish peroxidase. While either the enzyme or the antibody is bound to an immunosorbent substrate, they both retain their biologic activity; the change in enzyme activity as a result of the enzyme-antibody-antigen reaction is proportional to the concentration of the antigen and can be measured spectrophotometrically or with the naked eye. Many variations of the method have been developed.
A chemotherapeutic agent that acts against erythrocytic forms of malarial parasites. Hydroxychloroquine appears to concentrate in food vacuoles of affected protozoa. It inhibits plasmodial heme polymerase. (From Gilman et al., Goodman and Gilman's The Pharmacological Basis of Therapeutics, 9th ed, p970)
Subcutaneous nodules seen in 20-30% of rheumatoid arthritis patients. They may arise anywhere on the body, but are most frequently found over the bony prominences. The nodules are characterized histologically by dense areas of fibrinoid necrosis with basophilic streaks and granules, surrounded by a palisade of cells, mainly fibroblasts and histiocytes.
Fluid accumulation within the PERICARDIUM. Serous effusions are associated with pericardial diseases. Hemopericardium is associated with trauma. Lipid-containing effusion (chylopericardium) results from leakage of THORACIC DUCT. Severe cases can lead to CARDIAC TAMPONADE.
Disorders of one or more of the twelve cranial nerves. With the exception of the optic and olfactory nerves, this includes disorders of the brain stem nuclei from which the cranial nerves originate or terminate.
Antibodies found in adult RHEUMATOID ARTHRITIS patients that are directed against GAMMA-CHAIN IMMUNOGLOBULINS.
Immunoelectrophoresis in which immunoprecipitation occurs when antigen at the cathode is caused to migrate in an electric field through a suitable medium of diffusion against a stream of antibody migrating from the anode as a result of endosmotic flow.
A primary systemic vasculitis of small- and some medium-sized vessels. It is characterized by a tropism for kidneys and lungs, positive association with anti-neutrophil cytoplasmic antibodies (ANCA), and a paucity of immunoglobulin deposits in vessel walls.
The major immunoglobulin isotype class in normal human serum. There are several isotype subclasses of IgG, for example, IgG1, IgG2A, and IgG2B.
Test for tissue antigen using either a direct method, by conjugation of antibody with fluorescent dye (FLUORESCENT ANTIBODY TECHNIQUE, DIRECT) or an indirect method, by formation of antigen-antibody complex which is then labeled with fluorescein-conjugated anti-immunoglobulin antibody (FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT). The tissue is then examined by fluorescence microscopy.
An interstitial lung disease of unknown etiology, occurring between 21-80 years of age. It is characterized by a dramatic onset of a "pneumonia-like" illness with cough, fever, malaise, fatigue, and weight loss. Pathological features include prominent interstitial inflammation without collagen fibrosis, diffuse fibroblastic foci, and no microscopic honeycomb change. There is excessive proliferation of granulation tissue within small airways and alveolar ducts.
Disorders affecting the motor function of the UPPER ESOPHAGEAL SPHINCTER; LOWER ESOPHAGEAL SPHINCTER; the ESOPHAGUS body, or a combination of these parts. The failure of the sphincters to maintain a tonic pressure may result in gastric reflux of food and acid into the esophagus (GASTROESOPHAGEAL REFLUX). Other disorders include hypermotility (spastic disorders) and markedly increased amplitude in contraction (nutcracker esophagus).
Four or five slender jointed digits in humans and primates, attached to each HAND.
Refers to any inflammation of the sclera including episcleritis, a benign condition affecting only the episclera, which is generally short-lived and easily treated. Classic scleritis, on the other hand, affects deeper tissue and is characterized by higher rates of visual acuity loss and even mortality, particularly in necrotizing form. Its characteristic symptom is severe and general head pain. Scleritis has also been associated with systemic collagen disease. Etiology is unknown but is thought to involve a local immune response. Treatment is difficult and includes administration of anti-inflammatory and immunosuppressive agents such as corticosteroids. Inflammation of the sclera may also be secondary to inflammation of adjacent tissues, such as the conjunctiva.
Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept.
An HLA-DR antigen which is associated with HLA-DRB1 CHAINS encoded by DRB1*04 alleles.
Proteins conjugated with nucleic acids.
The property of antibodies which enables them to react with some ANTIGENIC DETERMINANTS and not with others. Specificity is dependent on chemical composition, physical forces, and molecular structure at the binding site.
Immunologically detectable substances found in the CELL NUCLEUS.
Measurable and quantifiable biological parameters (e.g., specific enzyme concentration, specific hormone concentration, specific gene phenotype distribution in a population, presence of biological substances) which serve as indices for health- and physiology-related assessments, such as disease risk, psychiatric disorders, environmental exposure and its effects, disease diagnosis, metabolic processes, substance abuse, pregnancy, cell line development, epidemiologic studies, etc.
The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.
Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.
Measurement of the various processes involved in the act of respiration: inspiration, expiration, oxygen and carbon dioxide exchange, lung volume and compliance, etc.
Proteins that are coded by immediate-early genes, in the absence of de novo protein synthesis. The term was originally used exclusively for viral regulatory proteins that were synthesized just after viral integration into the host cell. It is also used to describe cellular proteins which are synthesized immediately after the resting cell is stimulated by extracellular signals.
A polypeptide substance comprising about one third of the total protein in mammalian organisms. It is the main constituent of SKIN; CONNECTIVE TISSUE; and the organic substance of bones (BONE AND BONES) and teeth (TOOTH).
'Skin diseases' is a broad term for various conditions affecting the skin, including inflammatory disorders, infections, benign and malignant tumors, congenital abnormalities, and degenerative diseases, which can cause symptoms such as rashes, discoloration, eruptions, lesions, itching, or pain.
Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. SYNOVITIS; THROMBOPHLEBITIS; gastrointestinal ulcerations; RETINAL VASCULITIS; and OPTIC ATROPHY may occur as well.
Compression of the heart by accumulated fluid (PERICARDIAL EFFUSION) or blood (HEMOPERICARDIUM) in the PERICARDIUM surrounding the heart. The affected cardiac functions and CARDIAC OUTPUT can range from minimal to total hemodynamic collapse.
Agents that suppress immune function by one of several mechanisms of action. Classical cytotoxic immunosuppressants act by inhibiting DNA synthesis. Others may act through activation of T-CELLS or by inhibiting the activation of HELPER CELLS. While immunosuppression has been brought about in the past primarily to prevent rejection of transplanted organs, new applications involving mediation of the effects of INTERLEUKINS and other CYTOKINES are emerging.
Regulatory proteins and peptides that are signaling molecules involved in the process of PARACRINE COMMUNICATION. They are generally considered factors that are expressed by one cell and are responded to by receptors on another nearby cell. They are distinguished from HORMONES in that their actions are local rather than distal.
Immunologic method used for detecting or quantifying immunoreactive substances. The substance is identified by first immobilizing it by blotting onto a membrane and then tagging it with labeled antibodies.
A PREDNISOLONE derivative with similar anti-inflammatory action.
Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.

Silicone breast implants: epidemiological evidence of sequelae. (1/463)

Skeptics may certainly find fault with the third study (the only one to report a significant finding) or with all or any of the statistics described. But few could argue, after examining these studies, that the relative risk for a known and well-defined connective tissue disease is likely greater than 2. Another possibility has been raised, one that calls to mind other difficult-to-study syndromes linked to exposures. In a study addressing Gulf War syndrome, signs and symptoms were often mentioned that proved difficult to describe systematically and therefore difficult to study. What if a suspected silicone exposure syndrome were so mild and transient that it did not warrant a physician visit (as in the Mayo Clinic study). receive a diagnosis (as in the Nurses' Health Study), or require admission to a hospital (as in the Danish and Swedish studies)? And if such a disorder were, in fact, mild and transient, should it merit the concern that has been shown and the compensation that has been awarded in the silicone implant litigation cases to date? We suggest that neither a well-described disorder with a relative risk of less than 2 nor a transient and mild disorder seems compatible with the number of litigants over silicone implants and the apparent seriousness of their complaints. Some 400,000 women joined in one class action suit for damages, and 170,000 joined in another. Even if there had been 2 million implants undertaken in the United States over the 3 decades in which implant surgery has been practiced (and some estimates put the number closer to 1 million), there is no conceivable way in which a relative risk of 2 or 3 (or even 4) for each of the rare syndromes reported could explain so many exposed women being affected. At most, 2200 out of 2 million unexposed women would be expected to have had any one of the listed forms of connective tissue disorders, most of which are very rare. Doubling the risk among the exposed population yields 4400, and increasing the risk 20-fold produces 44,000. At this rate, there is no way in which 400,000 litigants could all be affected. Extensions of the already-completed studies are ongoing, at least 1 of which is government funded; apparently it is thought in the United States (though not in the United Kingdom or elsewhere) that there is still room for reasonable doubt as to the supposed causal relationships. But if epidemiology is invoked in the interest of public health to prevent the many uses of silicone, the weight of the evidence abstracted here supports the inference that silicone breast implants have not been proved guilty of causing connective tissue disorders.  (+info)

Pulmonary artery pressure variation in patients with connective tissue disease: 24 hour ambulatory pulmonary artery pressure monitoring. (2/463)

BACKGROUND: The specific contribution of secondary pulmonary hypertension to the morbidity and mortality of patients with underlying lung disease can be difficult to assess from single measurements of pulmonary artery pressure. We have studied patients with secondary pulmonary hypertension using an ambulatory system for measuring continuous pulmonary artery pressure (PAP). We chose to study patients with connective tissue disease because they represent a group at high risk of pulmonary vascular disease, but with little disturbance of lung function. METHODS: Six patients (five with progressive systemic sclerosis and one with systemic lupus erythematosis) were studied. They underwent preliminary cardiopulmonary investigations followed by Doppler echocardiography, right heart catheterisation, and ambulatory pulmonary artery pressure monitoring to measure changes in pressure over a 24 hour period including during a formal exercise test. RESULTS: All patients had pulmonary hypertension as measured by Doppler echocardiography with estimated pulmonary artery systolic pressures of 40-100 mm Hg. Pulmonary function testing revealed virtually normal spirometric values (mean FEV1 86.9% predicted) but marked reduction in CO gas transfer factor (KCO 57.8% predicted). Exercise responses were impaired with mean VO2max 50.6% predicted. Ambulatory PAP monitoring indicated significant changes in pressures with variation in posture and activity throughout 24 hours. Resting PAP did not predict the change in PAP seen on exercise. CONCLUSION: Conventional methods of assessment of the pulmonary circulation based on single measurements in the supine position may underestimate the stresses faced by the right side of the circulation. This ambulatory system allows monitoring of pulmonary haemodynamics continuously over 24 hours during normal activities of daily living. These measurements may increase our understanding of the contribution made by secondary pulmonary hypertension to the morbidity and mortality of the underlying lung disease.  (+info)

Petroleum distillate solvents as risk factors for undifferentiated connective tissue disease (UCTD). (3/463)

Occupational solvent exposure may increase the risk of connective tissue disease (CTD). The objective of this case-control study was to investigate the relation between undifferentiated connective tissue disease (UCTD) and solvent exposure in Michigan and Ohio. Women were considered to have UCTD if they did not meet the American College of Rheumatology classification criteria for any CTD but had at least two documented signs, symptoms, or laboratory abnormalities suggestive of a CTD. Detailed information on solvent exposure was ascertained from 205 cases, diagnosed between 1980 and 1992, and 2,095 population-based controls. Age-adjusted odds ratios (OR) and 95 percent confidence intervals (CI) were calculated for all exposures. Among 16 self-reported occupational activities with potential solvent exposure, furniture refinishing (OR = 9.73, 95 percent CI 1.48-63.90), perfume, cosmetic, or drug manufacturing (OR = 7.71, 95 percent CI 2.24-26.56), rubber product manufacturing (OR = 4.70, 95 percent CI 1.75-12.61), work in a medical diagnostic or pathology laboratory (OR = 4.52, 95 percent CI 2.27-8.97), and painting or paint manufacturing (OR = 2.87, 95 percent CI 1.06-7.76) were significantly associated with UCTD. After expert review of self-reported exposure to ten specific solvents, paint thinners or removers (OR = 2.73, 95 percent CI 1.80-4.16) and mineral spirits (OR = 1.81, 95 percent CI 1.09-3.02) were associated with UCTD. These results suggest that exposure to petroleum distillates increases the risk of developing UCTD.  (+info)

Up-regulation of intercellular adhesion molecule-1 (ICAM-1), endothelial leucocyte adhesion molecule-1 (ELAM-1) and class II MHC molecules on pulmonary artery endothelial cells by antibodies against U1-ribonucleoprotein. (4/463)

In order to elucidate the pathogenic role(s) of autoantibodies in connective tissue disease (CTD), we examined whether autoantibodies against U1-ribonucleoprotein (RNP) and double-stranded (ds) DNA can up-regulate ICAM-1, ELAM-1 and class I and II MHC molecule expression on pulmonary artery endothelial cells (HPAEC). ICAM-1, ELAM-1 and class II MHC molecule expression on HPAEC cultured in the presence of anti-U1-RNP-containing and anti-dsDNA-containing IgG from CTD patients was up-regulated significantly in comparison with that on HPAEC cultured with IgG from normal healthy volunteers. Affinity chromatographic enrichment and depletion of the anti-U1-RNP antibody content of anti-U1-RNP-containing IgG confirmed that the anti-U1-RNP antibody did up-regulate ICAM-1, ELAM-1 and class II MHC molecule expression. The finding that an IgG F(ab')2-purified anti-U1-RNP antibody also up-regulated expression of these molecules may indicate that mechanisms other than Fc receptor-mediated stimulation are involved. These in vitro findings suggest that autoantibodies against U1-RNP and dsDNA play important roles in the immunopathological processes leading to the proliferative pulmonary arterial vasculopathy observed in CTD patients with pulmonary hypertension by up-regulating adhesion and class II MHC molecule expression on endothelial cells.  (+info)

T cell receptor beta-chain third complementarity-determining region gene usage is highly restricted among Sm-B autoantigen-specific human T cell clones derived from patients with connective tissue disease. (5/463)

OBJECTIVE: To determine the structure of T cell receptors (TCR) used by Sm-B-reactive human T cell clones, to map T cell epitopes on the Sm-B autoantigen, and to determine the HLA restriction element used in the recognition of Sm-B by T cells. METHODS: Sm-B-reactive T cell clones were generated from patients with connective tissue disease by using either a recombinant fusion protein or synthetic peptides. The TCR structure was defined with the use of polymerase chain reaction and DNA sequencing. Synthetic peptides were used to map T cell epitopes on Sm-B. HLA restriction element usage was defined by using monoclonal antibody blocking. RESULTS: Usage of the TCR third complementarity-determining region (CDR3) was highly restricted among Sm-B autoantigen-specific human T cell clones. Only amino acids 48-96 of the Sm-B2 autoantigen were recognized by T cells, and this occurred in the context of HLA-DR. CONCLUSION: TCR CDR3 gene usage is highly conserved by Sm-B autoantigen-specific T cell clones, and this appears to be related to the recognition of a limited number of T cell epitopes on the Sm-B autoantigen presented in the context of HLA-DR.  (+info)

Pneumocystis carinii pneumonia in patients with connective tissue diseases: the role of hospital experience in diagnosis and mortality. (6/463)

OBJECTIVE: Pneumonia due to Pneumocystis carinii has been increasingly reported in patients with connective tissue diseases, but the frequency of this complication is not known. We sought to determine the frequency of P carinii pneumonia (PCP) in patients with connective tissue diseases, and to determine the role that a hospital's acquired immunodeficiency syndrome (AIDS)-related experience may have in the diagnosis of PCP in these patients. METHODS: We used a state hospitalization registry to identify all patients with PCP and either rheumatoid arthritis, systemic lupus erythematosus, Wegener's granulomatosis, polymyositis, dermatomyositis, polyarteritis nodosa, or scleroderma who had an emergent or urgent hospitalization in California from 1983 to 1994. We compared patient and hospital characteristics between these patients and patients with connective tissue diseases hospitalized with other types of pneumonia. RESULTS: Two hundred twenty-three patients with connective tissue diseases were diagnosed with PCP in the 12-year study period. The frequency of PCP ranged from 89 cases/10,000 hospitalizations/year in patients with Wegener's granulomatosis to 2 cases/10,000 hospitalizations/year in patients with rheumatoid arthritis. Compared with 5,457 patients with connective tissue diseases and pneumonia due to other organisms, patients with PCP were more likely to be younger, to be male, to have private medical insurance, and to have systemic lupus erythematosus, Wegener's granulomatosis, inflammatory myopathy, or polyarteritis nodosa rather than rheumatoid arthritis, and were less likely to be African American. Hospital size, teaching status, urban/rural location, proportion of admissions due to AIDS or PCP, and proportion of patients with pneumonia undergoing bronchoscopy were each associated with the likelihood of diagnosis of PCP in univariate analyses, but only the number of patients with PCP being treated at a hospital (odds ratio [OR] 1.03 for each additional 10 cases/year, 95% confidence interval [95% CI] 1.01-1.05) was associated with the likelihood of diagnosis of PCP in multivariate analyses. Patients were also somewhat more likely to be diagnosed with PCP if there had previously been a case of PCP in a patient with a connective tissue disease at the same hospital (OR 135, 95% CI 0.98-1.85). In-hospital mortality was 45.7%, and was unrelated to hospital characteristics. CONCLUSION: PCP is an uncommon, but often fatal, occurrence in patients with connective tissue disease. A hospital's prior experience with patients with PCP is associated with the likelihood that this condition is diagnosed in patients with connective tissue diseases who present with pneumonia, suggesting that diagnostic suspicion is an important factor in the correct identification of affected patients.  (+info)

Joint hypermobility and genetic collagen disorders: are they related? (7/463)

The HDCTs constitute a heterogeneous group of rare genetically determined diseases, the best known of which are Ehlers-Danlos and Marfan syndromes and osteogenesis imperfecta. Hypermobility is a feature common to them all, but it is also a feature that is highly prevalent in the population at large. Symptomatic hypermobile subjects (whose symptoms are attributable to their hypermobility) are said to be suffering from the benign joint hypermobility syndrome, which has many features that overlap with the HDCTs. It is not yet known whether there is a variety of hypermobility (symptomatic or otherwise) that is not part of a connective tissue disorder.  (+info)

111Indium antimyosin antibody imaging of primary myocardial involvement in systemic diseases. (8/463)

OBJECTIVE: The diagnosis of primary myocardial involvement in systemic diseases is clinically relevant but difficult in the absence of specific criteria. Whatever the underlying disease, myocytes degeneration is observed during the active phase of myocardial damage. The aim of this study was to assess the diagnostic value of scintigraphic imaging with 111Indium antimyosin antibody (AM), a specific marker of the damaged myocyte, for ongoing myocardial damage related to systemic diseases. METHODS: 40 patients with histologically confirmed systemic diseases were studied. They were classified into two groups according to the presence (group 1, n = 30), or the absence (group 2, n = 10) of clinical, electrocardiographic (ECG) or echocardiographic signs suggestive of myocardial involvement. Planar and tomographic acquisitions were obtained 48 hours after injection of AM (90 MBq). Rest 201thallium (T1) scintigraphy was also performed to assess myocardial perfusion and scarring. Clinical, ECG, and echocardiographic +/- scintigraphic evaluations were repeated during follow up (17 +/- 19 months) in 36 of 40 patients. RESULTS: In group 1, 13 of 30 patients (43%) showed diffuse significant AM uptake throughout the left ventricle (LV), and no or mild T1 abnormality. Two of these were asymptomatic, four had normal ECG, and two had no clinical or echographic LV dysfunction. All patients in group 2 had negative AMA scintigraphy and normal T1 scintigraphy. During follow up of 12 AM positive patients, cardiac status improved after immunosuppressive treatment was intensified in nine cases, worsened in two cases, and remained stable in one. During follow up of 24 AM negative patients, cardiac status remained stable in 23 cases despite treatment not being increased in 20, including two patients with sequellary myocardial involvement. The last patient developed mild LV dysfunction after 36 months. CONCLUSION: AM scintigraphy allows detection of active myocardial damage related to systemic diseases, with increased specificity compared with conventional methods, and increased sensitivity in some cases. Further studies are needed to assess the potential value of AM scintigraphy as a therapeutic guide.  (+info)

Connective tissue diseases (CTDs) are a group of disorders that involve the abnormal production and accumulation of abnormal connective tissues in various parts of the body. Connective tissues are the structural materials that support and bind other tissues and organs together. They include tendons, ligaments, cartilage, fat, and the material that fills the spaces between cells, called the extracellular matrix.

Connective tissue diseases can affect many different systems in the body, including the skin, joints, muscles, lungs, kidneys, gastrointestinal tract, and blood vessels. Some CTDs are autoimmune disorders, meaning that the immune system mistakenly attacks healthy connective tissues. Others may be caused by genetic mutations or environmental factors.

Some examples of connective tissue diseases include:

* Systemic lupus erythematosus (SLE)
* Rheumatoid arthritis (RA)
* Scleroderma
* Dermatomyositis/Polymyositis
* Mixed Connective Tissue Disease (MCTD)
* Sjogren's syndrome
* Ehlers-Danlos syndrome
* Marfan syndrome
* Osteogenesis imperfecta

The specific symptoms and treatment of connective tissue diseases vary depending on the type and severity of the condition. Treatment may include medications to reduce inflammation, suppress the immune system, or manage pain. In some cases, surgery may be necessary to repair or replace damaged tissues or organs.

Mixed Connective Tissue Disease (MCTD) is a rare overlapping condition of the connective tissues, characterized by the presence of specific autoantibodies against a protein called "U1-snRNP" or "U1-small nuclear ribonucleoprotein." This disorder has features of various connective tissue diseases such as systemic lupus erythematosus (SLE), scleroderma, polymyositis, and rheumatoid arthritis. Symptoms may include swollen hands, joint pain and swelling, muscle weakness, skin thickening, lung involvement, and Raynaud's phenomenon. The exact cause of MCTD is unknown, but it is believed to involve both genetic and environmental factors leading to an autoimmune response. Early diagnosis and treatment are essential for better disease management and preventing severe complications.

Connective tissue is a type of biological tissue that provides support, strength, and protection to various structures in the body. It is composed of cells called fibroblasts, which produce extracellular matrix components such as collagen, elastin, and proteoglycans. These components give connective tissue its unique properties, including tensile strength, elasticity, and resistance to compression.

There are several types of connective tissue in the body, each with its own specific functions and characteristics. Some examples include:

1. Loose or Areolar Connective Tissue: This type of connective tissue is found throughout the body and provides cushioning and support to organs and other structures. It contains a large amount of ground substance, which allows for the movement and gliding of adjacent tissues.
2. Dense Connective Tissue: This type of connective tissue has a higher concentration of collagen fibers than loose connective tissue, making it stronger and less flexible. Dense connective tissue can be further divided into two categories: regular (or parallel) and irregular. Regular dense connective tissue, such as tendons and ligaments, has collagen fibers that run parallel to each other, providing great tensile strength. Irregular dense connective tissue, such as the dermis of the skin, has collagen fibers arranged in a more haphazard pattern, providing support and flexibility.
3. Adipose Tissue: This type of connective tissue is primarily composed of fat cells called adipocytes. Adipose tissue serves as an energy storage reservoir and provides insulation and cushioning to the body.
4. Cartilage: A firm, flexible type of connective tissue that contains chondrocytes within a matrix of collagen and proteoglycans. Cartilage is found in various parts of the body, including the joints, nose, ears, and trachea.
5. Bone: A specialized form of connective tissue that consists of an organic matrix (mainly collagen) and an inorganic mineral component (hydroxyapatite). Bone provides structural support to the body and serves as a reservoir for calcium and phosphate ions.
6. Blood: Although not traditionally considered connective tissue, blood does contain elements of connective tissue, such as plasma proteins and leukocytes (white blood cells). Blood transports nutrients, oxygen, hormones, and waste products throughout the body.

Systemic Scleroderma, also known as Systemic Sclerosis (SSc), is a rare, chronic autoimmune disease that involves the abnormal growth and accumulation of collagen in various connective tissues, blood vessels, and organs throughout the body. This excessive collagen production leads to fibrosis or scarring, which can cause thickening, hardening, and tightening of the skin and damage to internal organs such as the heart, lungs, kidneys, and gastrointestinal tract.

Systemic Scleroderma is characterized by two main features: small blood vessel abnormalities (Raynaud's phenomenon) and fibrosis. The disease can be further classified into two subsets based on the extent of skin involvement: limited cutaneous systemic sclerosis (lcSSc) and diffuse cutaneous systemic sclerosis (dcSSc).

Limited cutaneous systemic sclerosis affects the skin distally, typically involving fingers, hands, forearms, feet, lower legs, and face. It is often associated with Raynaud's phenomenon, calcinosis, telangiectasias, and pulmonary arterial hypertension.

Diffuse cutaneous systemic sclerosis involves more extensive skin thickening and fibrosis that spreads proximally to affect the trunk, upper arms, thighs, and face. It is commonly associated with internal organ involvement, such as interstitial lung disease, heart disease, and kidney problems.

The exact cause of Systemic Scleroderma remains unknown; however, it is believed that genetic, environmental, and immunological factors contribute to its development. There is currently no cure for Systemic Scleroderma, but various treatments can help manage symptoms, slow disease progression, and improve quality of life.

Antinuclear antibodies (ANA) are a type of autoantibody that target structures found in the nucleus of a cell. These antibodies are produced by the immune system and attack the body's own cells and tissues, leading to inflammation and damage. The presence of ANA is often used as a marker for certain autoimmune diseases, such as systemic lupus erythematosus (SLE), Sjogren's syndrome, rheumatoid arthritis, scleroderma, and polymyositis.

ANA can be detected through a blood test called the antinuclear antibody test. A positive result indicates the presence of ANA in the blood, but it does not necessarily mean that a person has an autoimmune disease. Further testing is usually needed to confirm a diagnosis and determine the specific type of autoantibodies present.

It's important to note that ANA can also be found in healthy individuals, particularly as they age. Therefore, the test results should be interpreted in conjunction with other clinical findings and symptoms.

Raynaud's disease, also known as Raynaud's phenomenon or syndrome, is a condition that affects the blood vessels, particularly in the fingers and toes. It is characterized by episodes of vasospasm (constriction) of the small digital arteries and arterioles, which can be triggered by cold temperatures or emotional stress. This results in reduced blood flow to the affected areas, causing them to become pale or white and then cyanotic (blue) due to the accumulation of deoxygenated blood. As the episode resolves, the affected areas may turn red as blood flow returns, sometimes accompanied by pain, numbness, or tingling sensations.

Raynaud's disease can be primary, meaning it occurs without an underlying medical condition, or secondary, which is associated with connective tissue disorders, autoimmune diseases, or other health issues such as carpal tunnel syndrome, vibration tool usage, or smoking. Primary Raynaud's is more common and tends to be less severe than secondary Raynaud's.

Treatment for Raynaud's disease typically involves avoiding triggers, keeping the body warm, and using medications to help dilate blood vessels and improve circulation. In some cases, lifestyle modifications and smoking cessation may also be recommended to manage symptoms and prevent progression of the condition.

Collagen diseases, also known as collagen disorders or connective tissue diseases, refer to a group of medical conditions that affect the body's connective tissues. These tissues provide support and structure for various organs and systems in the body, including the skin, joints, muscles, and blood vessels.

Collagen is a major component of connective tissues, and it plays a crucial role in maintaining their strength and elasticity. In collagen diseases, the body's immune system mistakenly attacks healthy collagen, leading to inflammation, pain, and damage to the affected tissues.

There are several types of collagen diseases, including:

1. Systemic Lupus Erythematosus (SLE): This is a chronic autoimmune disease that can affect various organs and systems in the body, including the skin, joints, kidneys, heart, and lungs.
2. Rheumatoid Arthritis (RA): This is a chronic inflammatory disease that primarily affects the joints, causing pain, swelling, and stiffness.
3. Scleroderma: This is a rare autoimmune disorder that causes thickening and hardening of the skin and connective tissues, leading to restricted movement and organ damage.
4. Dermatomyositis: This is an inflammatory muscle disease that can also affect the skin, causing rashes and weakness.
5. Mixed Connective Tissue Disease (MCTD): This is a rare autoimmune disorder that combines symptoms of several collagen diseases, including SLE, RA, scleroderma, and dermatomyositis.

The exact cause of collagen diseases is not fully understood, but they are believed to be related to genetic, environmental, and hormonal factors. Treatment typically involves a combination of medications, lifestyle changes, and physical therapy to manage symptoms and prevent complications.

Systemic Lupus Erythematosus (SLE) is a complex autoimmune disease that can affect almost any organ or system in the body. In SLE, the immune system produces an exaggerated response, leading to the production of autoantibodies that attack the body's own cells and tissues, causing inflammation and damage. The symptoms and severity of SLE can vary widely from person to person, but common features include fatigue, joint pain, skin rashes (particularly a "butterfly" rash across the nose and cheeks), fever, hair loss, and sensitivity to sunlight.

Systemic lupus erythematosus can also affect the kidneys, heart, lungs, brain, blood vessels, and other organs, leading to a wide range of symptoms such as kidney dysfunction, chest pain, shortness of breath, seizures, and anemia. The exact cause of SLE is not fully understood, but it is believed to involve a combination of genetic, environmental, and hormonal factors. Treatment typically involves medications to suppress the immune system and manage symptoms, and may require long-term management by a team of healthcare professionals.

Connective Tissue Growth Factor (CTGF) is a cysteine-rich peptide growth factor that belongs to the CCN family of proteins. It plays an important role in various biological processes, including cell adhesion, migration, proliferation, and extracellular matrix production. CTGF is involved in wound healing, tissue repair, and fibrosis, as well as in the pathogenesis of several diseases such as cancer, diabetic nephropathy, and systemic sclerosis. It is expressed in response to various stimuli, including growth factors, cytokines, and mechanical stress. CTGF interacts with a variety of signaling molecules and integrins to regulate cellular responses and tissue homeostasis.

Autoantibodies are defined as antibodies that are produced by the immune system and target the body's own cells, tissues, or organs. These antibodies mistakenly identify certain proteins or molecules in the body as foreign invaders and attack them, leading to an autoimmune response. Autoantibodies can be found in various autoimmune diseases such as rheumatoid arthritis, lupus, and thyroiditis. The presence of autoantibodies can also be used as a diagnostic marker for certain conditions.

Skin and connective tissue diseases are a group of disorders that primarily affect the skin, mucous membranes, and/or connective tissues (such as cartilage, fat, muscle, and blood vessels). These diseases can be caused by various factors including genetics, autoimmune processes, infections, allergic reactions, or environmental exposures. They can manifest as rashes, blisters, scars, inflammation, pigmentation changes, and structural abnormalities of the skin and underlying tissues.

Examples of skin and connective tissue diseases include:

1. Systemic lupus erythematosus (SLE) - an autoimmune disease that can affect various organs, including the skin, joints, kidneys, and brain.
2. Dermatomyositis - an inflammatory disease characterized by muscle weakness and a distinctive rash on the face, neck, and chest.
3. Scleroderma - a rare autoimmune disorder that causes thickening and hardening of the skin and connective tissues.
4. Psoriasis - a chronic skin condition marked by red, scaly patches and silvery scales.
5. Eczema (atopic dermatitis) - an inflammatory skin condition characterized by itchy, red, and cracked skin.
6. Morphea - a localized form of scleroderma that affects the skin and underlying tissues.
7. Lichen planus - an inflammatory condition that causes flat, purple, itchy bumps on the skin and mucous membranes.
8. Vasculitis - inflammation of blood vessels that can cause various symptoms, including skin rashes, joint pain, and organ damage.
9. Ehlers-Danlos syndrome (EDS) - a group of inherited disorders that affect connective tissues, leading to joint hypermobility, skin fragility, and other symptoms.
10. Marfan syndrome - an inherited disorder that affects the body's connective tissue and can cause problems in the heart, blood vessels, eyes, and skeleton.

Treatment for skin and connective tissue diseases varies depending on the specific diagnosis and severity of the condition. It may include topical creams or ointments, oral medications, phototherapy, lifestyle changes, and, in some cases, surgery.

Sjögren's syndrome is a chronic autoimmune disorder in which the body's immune system mistakenly attacks its own moisture-producing glands, particularly the tear and salivary glands. This can lead to symptoms such as dry eyes, dry mouth, and dryness in other areas of the body. In some cases, it may also affect other organs, leading to a variety of complications.

There are two types of Sjögren's syndrome: primary and secondary. Primary Sjögren's syndrome occurs when the condition develops on its own, while secondary Sjögren's syndrome occurs when it develops in conjunction with another autoimmune disease, such as rheumatoid arthritis or lupus.

The exact cause of Sjögren's syndrome is not fully understood, but it is believed to involve a combination of genetic and environmental factors. Treatment typically focuses on relieving symptoms and may include artificial tears, saliva substitutes, medications to stimulate saliva production, and immunosuppressive drugs in more severe cases.

Interstitial lung diseases (ILDs) are a group of disorders characterized by inflammation and scarring (fibrosis) in the interstitium, the tissue and space around the air sacs (alveoli) of the lungs. The interstitium is where the blood vessels that deliver oxygen to the lungs are located. ILDs can be caused by a variety of factors, including environmental exposures, medications, connective tissue diseases, and autoimmune disorders.

The scarring and inflammation in ILDs can make it difficult for the lungs to expand and contract normally, leading to symptoms such as shortness of breath, cough, and fatigue. The scarring can also make it harder for oxygen to move from the air sacs into the bloodstream.

There are many different types of ILDs, including:

* Idiopathic pulmonary fibrosis (IPF): a type of ILD that is caused by unknown factors and tends to progress rapidly
* Hypersensitivity pneumonitis: an ILD that is caused by an allergic reaction to inhaled substances, such as mold or bird droppings
* Connective tissue diseases: ILDs can be a complication of conditions such as rheumatoid arthritis and scleroderma
* Sarcoidosis: an inflammatory disorder that can affect multiple organs, including the lungs
* Asbestosis: an ILD caused by exposure to asbestos fibers

Treatment for ILDs depends on the specific type of disease and its underlying cause. Some treatments may include corticosteroids, immunosuppressive medications, and oxygen therapy. In some cases, a lung transplant may be necessary.

SnRNP (small nuclear ribonucleoprotein) core proteins are a group of proteins that are associated with small nuclear RNAs (snRNAs) to form small nuclear ribonucleoprotein particles. These particles play crucial roles in various aspects of RNA processing, such as splicing, 3' end formation, and degradation.

The snRNP core proteins include seven Sm proteins (B, D1, D2, D3, E, F, and G) that form a heptameric ring-like structure called the Sm core, which binds to a conserved sequence motif in the snRNAs called the Sm site. In addition to the Sm proteins, there are also other core proteins such as Sm like (L) proteins and various other protein factors that associate with specific snRNP particles.

Together, these snRNP core proteins help to stabilize the snRNA, facilitate its assembly into functional ribonucleoprotein complexes, and participate in the recognition and processing of target RNAs during post-transcriptional regulation.

CREST syndrome is a subtype of a autoimmune connective tissue disorder called scleroderma (systemic sclerosis). The name "CREST" is an acronym that stands for the following five features:

* Calcinosis: The formation of calcium deposits in the skin and underlying tissues, which can cause painful ulcers.
* Raynaud's phenomenon: A condition in which the blood vessels in the fingers and toes constrict in response to cold or stress, causing the digits to turn white or blue and become numb or painful.
* Esophageal dysmotility: Difficulty swallowing due to weakened muscles in the esophagus.
* Sclerodactyly: Thickening and tightening of the skin on the fingers.
* Telangiectasias: Dilated blood vessels near the surface of the skin, causing red spots or lines.

It's important to note that not everyone with CREST syndrome will have all five of these features, and some people may have additional symptoms not included in the acronym. Additionally, CREST syndrome is a chronic condition that can cause a range of complications, including lung fibrosis, kidney problems, and digital ulcers. Treatment typically focuses on managing specific symptoms and slowing the progression of the disease.

Dermatomyositis is a medical condition characterized by inflammation and weakness in the muscles and skin. It is a type of inflammatory myopathy, which means that it causes muscle inflammation and damage. Dermatomyositis is often associated with a distinctive rash that affects the skin around the eyes, nose, mouth, fingers, and toes.

The symptoms of dermatomyositis can include:

* Progressive muscle weakness, particularly in the hips, thighs, shoulders, and neck
* Fatigue
* Difficulty swallowing or speaking
* Skin rash, which may be pink or purple and is often accompanied by itching
* Muscle pain and tenderness
* Joint pain and swelling
* Raynaud's phenomenon, a condition that affects blood flow to the fingers and toes

The exact cause of dermatomyositis is not known, but it is believed to be related to an autoimmune response in which the body's immune system mistakenly attacks healthy tissue. Treatment for dermatomyositis typically involves medications to reduce inflammation and suppress the immune system, as well as physical therapy to help maintain muscle strength and function.

Connective tissue cells are a type of cell that are responsible for the production and maintenance of the extracellular matrix (ECM), which provides structural support and separates different tissues in the body. There are several types of connective tissue cells, including:

1. Fibroblasts: These are the most common type of connective tissue cell. They produce and maintain the ECM by synthesizing and secreting collagen, elastin, and other proteins that give the matrix its strength and elasticity.
2. Chondrocytes: These cells are found in cartilage and are responsible for producing and maintaining the cartilaginous matrix, which is composed of collagen and proteoglycans.
3. Osteoblasts: These cells are responsible for the formation and mineralization of bone tissue. They produce and secrete type I collagen and other proteins that form the organic matrix of bone, and they also regulate the deposition of calcium salts that mineralize the matrix.
4. Adipocytes: These are fat cells that store energy in the form of lipids. They are found in adipose tissue, which is a type of connective tissue that provides insulation and cushioning to the body.
5. Macrophages: These are large, mobile phagocytic cells that play an important role in the immune system. They are derived from monocytes and are found in many types of connective tissue, where they help to remove foreign particles, debris, and microorganisms.
6. Mast cells: These are connective tissue cells that contain granules filled with histamine, heparin, and other substances that are involved in inflammation and allergic reactions. They play a role in the immune response by releasing these granules when activated by antigens or other stimuli.

Connective tissue cells are essential for maintaining the structure and function of the body's tissues and organs, and they play an important role in wound healing, tissue repair, and the immune response.

Pulmonary hypertension is a medical condition characterized by increased blood pressure in the pulmonary arteries, which are the blood vessels that carry blood from the right side of the heart to the lungs. This results in higher than normal pressures in the pulmonary circulation and can lead to various symptoms and complications.

Pulmonary hypertension is typically defined as a mean pulmonary artery pressure (mPAP) greater than or equal to 25 mmHg at rest, as measured by right heart catheterization. The World Health Organization (WHO) classifies pulmonary hypertension into five groups based on the underlying cause:

1. Pulmonary arterial hypertension (PAH): This group includes idiopathic PAH, heritable PAH, drug-induced PAH, and associated PAH due to conditions such as connective tissue diseases, HIV infection, portal hypertension, congenital heart disease, and schistosomiasis.
2. Pulmonary hypertension due to left heart disease: This group includes conditions that cause elevated left atrial pressure, such as left ventricular systolic or diastolic dysfunction, valvular heart disease, and congenital cardiovascular shunts.
3. Pulmonary hypertension due to lung diseases and/or hypoxia: This group includes chronic obstructive pulmonary disease (COPD), interstitial lung disease, sleep-disordered breathing, alveolar hypoventilation disorders, and high altitude exposure.
4. Chronic thromboembolic pulmonary hypertension (CTEPH): This group includes persistent obstruction of the pulmonary arteries due to organized thrombi or emboli.
5. Pulmonary hypertension with unclear and/or multifactorial mechanisms: This group includes hematologic disorders, systemic disorders, metabolic disorders, and other conditions that can cause pulmonary hypertension but do not fit into the previous groups.

Symptoms of pulmonary hypertension may include shortness of breath, fatigue, chest pain, lightheadedness, and syncope (fainting). Diagnosis typically involves a combination of medical history, physical examination, imaging studies, and invasive testing such as right heart catheterization. Treatment depends on the underlying cause but may include medications, oxygen therapy, pulmonary rehabilitation, and, in some cases, surgical intervention.

Rheumatic diseases are a group of disorders that cause pain, stiffness, and swelling in the joints, muscles, tendons, ligaments, or bones. They include conditions such as rheumatoid arthritis, osteoarthritis, systemic lupus erythematosus (SLE), gout, ankylosing spondylitis, psoriatic arthritis, and many others. These diseases can also affect other body systems including the skin, eyes, lungs, heart, kidneys, and nervous system. Rheumatic diseases are often chronic and may be progressive, meaning they can worsen over time. They can cause significant pain, disability, and reduced quality of life if not properly diagnosed and managed. The exact causes of rheumatic diseases are not fully understood, but genetics, environmental factors, and immune system dysfunction are believed to play a role in their development.

Breast implants are medical devices that are inserted into the breast to enhance their size, shape, or fullness. They can also be used for breast reconstruction after a mastectomy or other medical treatments. Breast implants typically consist of a silicone shell filled with either saline (sterile saltwater) or silicone gel.

There are two main types of breast implants:

1. Saline-filled implants: These implants have a silicone outer shell that is filled with sterile saline solution after the implant has been inserted into the breast. This allows for some adjustment in the size and shape of the implant after surgery.
2. Silicone gel-filled implants: These implants have a silicone outer shell that is pre-filled with a cohesive silicone gel. The gel is designed to feel more like natural breast tissue than saline implants.

Breast implants come in various sizes, shapes, and textures, and the choice of implant will depend on several factors, including the patient's body type, desired outcome, and personal preference. It is important for patients considering breast implants to discuss their options with a qualified plastic surgeon who can help them make an informed decision based on their individual needs and goals.

Myositis is a medical term that refers to inflammation of the muscle tissue. This condition can cause various symptoms, including muscle weakness, pain, swelling, and stiffness. There are several types of myositis, such as polymyositis, dermatomyositis, and inclusion body myositis, which have different causes and characteristics.

Polymyositis is a type of myositis that affects multiple muscle groups, particularly those close to the trunk of the body. Dermatomyositis is characterized by muscle inflammation as well as a skin rash. Inclusion body myositis is a less common form of myositis that typically affects older adults and can cause both muscle weakness and wasting.

The causes of myositis vary depending on the type, but they can include autoimmune disorders, infections, medications, and other medical conditions. Treatment for myositis may involve medication to reduce inflammation, physical therapy to maintain muscle strength and flexibility, and lifestyle changes to manage symptoms and prevent complications.

Rheumatoid arthritis (RA) is a systemic autoimmune disease that primarily affects the joints. It is characterized by persistent inflammation, synovial hyperplasia, and subsequent damage to the articular cartilage and bone. The immune system mistakenly attacks the body's own tissues, specifically targeting the synovial membrane lining the joint capsule. This results in swelling, pain, warmth, and stiffness in affected joints, often most severely in the hands and feet.

RA can also have extra-articular manifestations, affecting other organs such as the lungs, heart, skin, eyes, and blood vessels. The exact cause of RA remains unknown, but it is believed to involve a complex interplay between genetic susceptibility and environmental triggers. Early diagnosis and treatment are crucial in managing rheumatoid arthritis to prevent joint damage, disability, and systemic complications.

A ribonucleoprotein, U1 small nuclear (U1 snRNP) is a type of small nuclear ribonucleoprotein (snRNP) particle that is found within the nucleus of eukaryotic cells. These complexes are essential for various aspects of RNA processing, particularly in the form of spliceosomes, which are responsible for removing introns from pre-messenger RNA (pre-mRNA) during the process of gene expression.

The U1 snRNP is composed of a small nuclear RNA (snRNA) molecule called U1 snRNA, several proteins, and occasionally other non-coding RNAs. The U1 snRNA contains conserved sequences that recognize and bind to specific sequences in the pre-mRNA, forming base pairs with complementary regions within the intron. This interaction is crucial for the accurate identification and removal of introns during splicing.

In addition to its role in splicing, U1 snRNP has been implicated in other cellular processes such as transcription regulation, RNA decay, and DNA damage response. Dysregulation or mutations in U1 snRNP components have been associated with various human diseases, including cancer and neurological disorders.

Autoantigens are substances that are typically found in an individual's own body, but can stimulate an immune response because they are recognized as foreign by the body's own immune system. In autoimmune diseases, the immune system mistakenly attacks and damages healthy tissues and organs because it recognizes some of their components as autoantigens. These autoantigens can be proteins, DNA, or other molecules that are normally present in the body but have become altered or exposed due to various factors such as infection, genetics, or environmental triggers. The immune system then produces antibodies and activates immune cells to attack these autoantigens, leading to tissue damage and inflammation.

Polymyositis is defined as a rare inflammatory disorder that causes muscle weakness and inflammation (swelling) of the muscles. It primarily affects the skeletal muscles, which are the muscles responsible for voluntary movements such as walking, talking, and swallowing. The onset of polymyositis can occur at any age but is most commonly seen in adults between 31 to 60 years old, with women being slightly more affected than men.

The exact cause of polymyositis remains unknown; however, it is believed to be an autoimmune disorder, where the body's immune system mistakenly attacks its own muscle tissue. Certain factors such as genetics, viral infections, and exposure to certain drugs may contribute to the development of this condition.

Polymyositis can cause various symptoms, including:
- Progressive muscle weakness and wasting, particularly affecting the proximal muscles (those closest to the trunk of the body) such as the hips, thighs, shoulders, and upper arms.
- Difficulty climbing stairs, lifting objects, or rising from a seated position.
- Fatigue and stiffness, especially after periods of inactivity.
- Joint pain and swelling.
- Difficulty swallowing or speaking.
- Shortness of breath due to weakened respiratory muscles.

Diagnosis of polymyositis typically involves a combination of medical history, physical examination, laboratory tests, electromyography (EMG), and muscle biopsy. Treatment usually includes medications such as corticosteroids and immunosuppressants to reduce inflammation and control the immune response. Physical therapy may also be recommended to help maintain muscle strength and flexibility.

If left untreated, polymyositis can lead to significant disability and complications, including respiratory failure, malnutrition, and cardiovascular disease. Early diagnosis and treatment are crucial for improving outcomes and preventing long-term complications.

Polyarteritis nodosa (PAN) is a rare, systemic necrotizing vasculitis that affects medium-sized and small muscular arteries. It is characterized by inflammation and damage to the walls of the arteries, leading to the formation of microaneurysms (small bulges in the artery wall) and subsequent narrowing or complete occlusion of the affected vessels. This can result in tissue ischemia (reduced blood flow) and infarction (tissue death), causing a wide range of clinical manifestations that vary depending on the organs involved.

The exact cause of PAN remains unclear, but it is believed to involve an autoimmune response triggered by various factors such as infections or exposure to certain drugs. The diagnosis of PAN typically requires a combination of clinical findings, laboratory tests, and imaging studies, often supported by histopathological examination of affected tissues. Treatment usually involves the use of immunosuppressive medications to control inflammation and prevent further damage to the arteries and organs.

Localized scleroderma, also known as morphea, is a rare autoimmune disorder that affects the skin and connective tissues. It is characterized by thickening and hardening (sclerosis) of the skin in patches or bands, usually on the trunk, limbs, or face. Unlike systemic scleroderma, localized scleroderma does not affect internal organs, although it can cause significant disfigurement and disability in some cases.

There are two main types of localized scleroderma: plaque morphea and generalized morphea. Plaque morphea typically presents as oval or circular patches of thickened, hard skin that are often white or pale in the center and surrounded by a purple or darker border. Generalized morphea, on the other hand, is characterized by larger areas of sclerosis that can cover much of the body surface.

The exact cause of localized scleroderma is not fully understood, but it is thought to involve an overactive immune system response that leads to inflammation and scarring of the skin and underlying tissues. Treatment typically involves a combination of topical therapies (such as corticosteroids or calcineurin inhibitors), phototherapy, and systemic medications (such as methotrexate or mycophenolate mofetil) in more severe cases.

Autoimmune diseases are a group of disorders in which the immune system, which normally protects the body from foreign invaders like bacteria and viruses, mistakenly attacks the body's own cells and tissues. This results in inflammation and damage to various organs and tissues in the body.

In autoimmune diseases, the body produces autoantibodies that target its own proteins or cell receptors, leading to their destruction or malfunction. The exact cause of autoimmune diseases is not fully understood, but it is believed that a combination of genetic and environmental factors contribute to their development.

There are over 80 different types of autoimmune diseases, including rheumatoid arthritis, lupus, multiple sclerosis, type 1 diabetes, Hashimoto's thyroiditis, Graves' disease, psoriasis, and inflammatory bowel disease. Symptoms can vary widely depending on the specific autoimmune disease and the organs or tissues affected. Treatment typically involves managing symptoms and suppressing the immune system to prevent further damage.

Mucinoses are a group of cutaneous disorders characterized by the abnormal deposit of mucin in the dermis. Mucin is a complex sugar-protein substance that provides cushioning and lubrication to various tissues in the body. In mucinoses, an excess of mucin accumulates in the skin, leading to various clinical manifestations such as papules, nodules, plaques, or generalized swelling.

Mucinoses can be classified into two main categories: primary and secondary. Primary mucinoses are caused by genetic mutations that affect the production or degradation of mucin, while secondary mucinoses occur as a result of other underlying medical conditions, such as autoimmune disorders, infections, or neoplasms.

Examples of primary mucinoses include:

* Lichen myxedematosus (also known as papular mucinosis): characterized by multiple, firm, flesh-colored to yellowish papules and nodules, usually on the trunk and proximal extremities.
* Follicular mucinosis: a condition that affects hair follicles and is characterized by the accumulation of mucin in the follicular epithelium, leading to hair loss, itching, and inflammation.
* Scleromyxedema: a rare systemic disorder characterized by generalized thickening and hardening of the skin due to excessive deposition of mucin and collagen fibers.

Examples of secondary mucinoses include:

* Lupus erythematosus: an autoimmune disorder that can affect various organs, including the skin, and is characterized by the accumulation of mucin in the dermis.
* Dermatomyositis: another autoimmune disorder that affects the skin and muscles, and can also cause mucin deposition in the dermis.
* Rosai-Dorfman disease: a rare histiocytic disorder characterized by the accumulation of large, foamy histiocytes that contain mucin in the lymph nodes and other organs, including the skin.

The diagnosis of mucinoses is usually based on clinical examination, skin biopsy, and laboratory tests. Treatment depends on the underlying cause and may include topical or systemic medications, phototherapy, or surgical intervention.

Small nuclear ribonucleoproteins (snRNPs) are a type of ribonucleoprotein (RNP) found within the nucleus of eukaryotic cells. They are composed of small nuclear RNA (snRNA) molecules and associated proteins, which are involved in various aspects of RNA processing, particularly in the modification and splicing of messenger RNA (mRNA).

The snRNPs play a crucial role in the formation of spliceosomes, large ribonucleoprotein complexes that remove introns (non-coding sequences) from pre-mRNA and join exons (coding sequences) together to form mature mRNA. Each snRNP contains a specific snRNA molecule, such as U1, U2, U4, U5, or U6, which recognizes and binds to specific sequences within the pre-mRNA during splicing. The associated proteins help stabilize the snRNP structure and facilitate its interactions with other components of the spliceosome.

In addition to their role in splicing, some snRNPs are also involved in other cellular processes, such as transcription regulation, RNA export, and DNA damage response. Dysregulation or mutations in snRNP components have been implicated in various human diseases, including cancer, neurological disorders, and autoimmune diseases.

Ribonucleoproteins (RNPs) are complexes composed of ribonucleic acid (RNA) and proteins. They play crucial roles in various cellular processes, including gene expression, RNA processing, transport, stability, and degradation. Different types of RNPs exist, such as ribosomes, spliceosomes, and signal recognition particles, each having specific functions in the cell.

Ribosomes are large RNP complexes responsible for protein synthesis, where messenger RNA (mRNA) is translated into proteins. They consist of two subunits: a smaller subunit containing ribosomal RNA (rRNA) and proteins that recognize the start codon on mRNA, and a larger subunit with rRNA and proteins that facilitate peptide bond formation during translation.

Spliceosomes are dynamic RNP complexes involved in pre-messenger RNA (pre-mRNA) splicing, where introns (non-coding sequences) are removed, and exons (coding sequences) are joined together to form mature mRNA. Spliceosomes consist of five small nuclear ribonucleoproteins (snRNPs), each containing a specific small nuclear RNA (snRNA) and several proteins, as well as numerous additional proteins.

Other RNP complexes include signal recognition particles (SRPs), which are responsible for targeting secretory and membrane proteins to the endoplasmic reticulum during translation, and telomerase, an enzyme that maintains the length of telomeres (the protective ends of chromosomes) by adding repetitive DNA sequences using its built-in RNA component.

In summary, ribonucleoproteins are essential complexes in the cell that participate in various aspects of RNA metabolism and protein synthesis.

Vasculitis is a group of disorders characterized by inflammation of the blood vessels, which can cause changes in the vessel walls including thickening, narrowing, or weakening. These changes can restrict blood flow, leading to organ and tissue damage. The specific symptoms and severity of vasculitis depend on the size and location of the affected blood vessels and the extent of inflammation. Vasculitis can affect any organ system in the body, and its causes can vary, including infections, autoimmune disorders, or exposure to certain medications or chemicals.

In the context of medical terminology, "nails" primarily refer to the keratinous plates that are found at the tips of fingers and toes. These specialized structures are part of the outermost layer of the skin (epidermis) and are formed by a type of cells called keratinocytes. The nails serve to protect the delicate underlying tissues from trauma, and they also aid in tasks such as picking up small objects or scratching itches.

The medical term for fingernails and toenails is "unguis," which comes from Latin. Each nail consists of several parts:

1. Nail plate: The visible part of the nail that is hard and flat, made up of keratin.
2. Nail bed: The skin beneath the nail plate to which the nail plate is attached; it supplies blood to the nail.
3. Matrix: The area where new cells are produced for the growth of the nail plate; located under the cuticle and extends slightly onto the finger or toe.
4. Lunula: The crescent-shaped white area at the base of the nail plate, which is the visible portion of the matrix.
5. Cuticle: The thin layer of skin that overlaps the nail plate and protects the underlying tissue from infection.
6. Eponychium: The fold of skin that surrounds and covers the nail plate; also known as the "proximal nail fold."
7. Hyponychium: The area of skin between the free edge of the nail plate and the fingertip or toe tip.
8. Perionychiun: The skin surrounding the nail on all sides.

Understanding the anatomy and medical aspects of nails is essential for healthcare professionals, as various conditions can affect nail health, such as fungal infections, ingrown nails, or tumors.

Silicones are not a medical term, but they are commonly used in the medical field, particularly in medical devices and healthcare products. Silicones are synthetic polymers made up of repeating units of siloxane, which is a chain of alternating silicon and oxygen atoms. They can exist in various forms such as oils, gels, rubbers, and resins.

In the medical context, silicones are often used for their unique properties, including:

1. Biocompatibility - Silicones have a low risk of causing an adverse reaction when they come into contact with living tissue.
2. Inertness - They do not react chemically with other substances, making them suitable for use in medical devices that need to remain stable over time.
3. Temperature resistance - Silicones can maintain their flexibility and elasticity even under extreme temperature conditions.
4. Gas permeability - Some silicone materials allow gases like oxygen and water vapor to pass through, which is useful in applications where maintaining a moist environment is essential.
5. Durability - Silicones have excellent resistance to aging, weathering, and environmental factors, ensuring long-lasting performance.

Examples of medical applications for silicones include:

1. Breast implants
2. Contact lenses
3. Catheters
4. Artificial joints and tendons
5. Bandages and wound dressings
6. Drug delivery systems
7. Medical adhesives
8. Infant care products (nipples, pacifiers)

Idiopathic interstitial pneumonias (IIPs) are a group of rare lung diseases with no known cause, characterized by inflammation and scarring (fibrosis) of the lung tissue. The term "idiopathic" means that the cause is unknown, and "interstitial" refers to the spaces between the air sacs in the lungs where the inflammation and scarring occur.

IIPs are classified into several subtypes based on their clinical, radiological, and pathological features. These include:

1. Idiopathic Pulmonary Fibrosis (IPF): This is the most common and aggressive form of IIP, characterized by progressive scarring of the lung tissue, which leads to difficulty breathing and decreased lung function over time.
2. Nonspecific Interstitial Pneumonia (NSIP): This subtype is characterized by varying degrees of inflammation and fibrosis in the lung tissue. NSIP can be idiopathic or associated with connective tissue diseases.
3. Respiratory Bronchiolitis-Interstitial Lung Disease (RB-ILD): This subtype primarily affects smokers and is characterized by inflammation of the small airways and surrounding lung tissue.
4. Desquamative Interstitial Pneumonia (DIP): This subtype is also more common in smokers and is characterized by accumulation of pigmented macrophages in the lung tissue.
5. Cryptogenic Organizing Pneumonia (COP): This subtype is characterized by the formation of fibrous masses in the small airways and alveoli, leading to cough and shortness of breath.
6. Acute Interstitial Pneumonia (AIP)/Acute Respiratory Distress Syndrome (ARDS): This subtype is a severe form of IIP that can rapidly progress to respiratory failure and requires immediate medical attention.

The diagnosis of IIPs typically involves a combination of clinical evaluation, imaging studies, and lung biopsy. Treatment options may include corticosteroids, immunosuppressive medications, and oxygen therapy, depending on the severity and subtype of the disease.

Marfan syndrome is a genetic disorder that affects the body's connective tissue. Connective tissue helps to strengthen and support various structures in the body, including the skin, ligaments, blood vessels, and heart. In Marfan syndrome, the body produces an abnormal amount of a protein called fibrillin-1, which is a key component of connective tissue. This leads to problems with the formation and function of connective tissue throughout the body.

The most serious complications of Marfan syndrome typically involve the heart and blood vessels. The aorta, which is the large artery that carries blood away from the heart, can become weakened and stretched, leading to an increased risk of aortic dissection or rupture. Other common features of Marfan syndrome include long, thin fingers and toes; tall stature; a curved spine; and eye problems such as nearsightedness and lens dislocation.

Marfan syndrome is usually inherited in an autosomal dominant pattern, which means that a child has a 50% chance of inheriting the gene mutation from a parent who has the condition. However, about 25% of cases are the result of a new mutation and occur in people with no family history of the disorder. There is no cure for Marfan syndrome, but treatment can help to manage the symptoms and reduce the risk of complications.

Prednisolone is a synthetic glucocorticoid drug, which is a class of steroid hormones. It is commonly used in the treatment of various inflammatory and autoimmune conditions due to its potent anti-inflammatory and immunosuppressive effects. Prednisolone works by binding to specific receptors in cells, leading to changes in gene expression that reduce the production of substances involved in inflammation, such as cytokines and prostaglandins.

Prednisolone is available in various forms, including tablets, syrups, and injectable solutions. It can be used to treat a wide range of medical conditions, including asthma, rheumatoid arthritis, inflammatory bowel disease, allergies, skin conditions, and certain types of cancer.

Like other steroid medications, prednisolone can have significant side effects if used in high doses or for long periods of time. These may include weight gain, mood changes, increased risk of infections, osteoporosis, diabetes, and adrenal suppression. As a result, the use of prednisolone should be closely monitored by a healthcare professional to ensure that its benefits outweigh its risks.

Pulmonary fibrosis is a specific type of lung disease that results from the thickening and scarring of the lung tissues, particularly those in the alveoli (air sacs) and interstitium (the space around the air sacs). This scarring makes it harder for the lungs to properly expand and transfer oxygen into the bloodstream, leading to symptoms such as shortness of breath, coughing, fatigue, and eventually respiratory failure. The exact cause of pulmonary fibrosis can vary, with some cases being idiopathic (without a known cause) or related to environmental factors, medications, medical conditions, or genetic predisposition.

Microscopic angioscopy is not a widely recognized or established medical term. However, based on the individual terms, it can be interpreted as the use of a microscope with an angioscope (a type of endoscope used for visualizing the interior of blood vessels) to examine the microscopic structures of the inner walls of blood vessels. This technique would allow for detailed examination of the vasculature at a cellular level, potentially providing valuable information for research and diagnosis of various vascular diseases. However, as this is not a standard medical procedure or term, it's essential to consult the relevant literature or experts in the field for more precise information.

In medical terms, toes are the digits located at the end of the foot. Humans typically have five toes on each foot, consisting of the big toe (hallux), second toe, third toe, fourth toe, and little toe (fifth toe). The bones of the toes are called phalanges, with the exception of the big toe, which has a different bone structure and is composed of a proximal phalanx, distal phalanx, and sometimes a sesamoid bone.

Toes play an essential role in maintaining balance and assisting in locomotion by helping to push off the ground during walking or running. They also contribute to the overall stability and posture of the body. Various medical conditions can affect toes, such as ingrown toenails, bunions, hammertoes, and neuromas, which may require specific treatments or interventions to alleviate pain, restore function, or improve appearance.

Plastic surgery is a medical specialty that involves the restoration, reconstruction, or alteration of the human body. It can be divided into two main categories: reconstructive surgery and cosmetic surgery.

Reconstructive surgery is performed to correct functional impairments caused by burns, trauma, birth defects, or disease. The goal is to improve function, but may also involve improving appearance.

Cosmetic (or aesthetic) surgery is performed to reshape normal structures of the body in order to improve the patient's appearance and self-esteem. This includes procedures such as breast augmentation, rhinoplasty, facelifts, and tummy tucks.

Plastic surgeons use a variety of techniques, including skin grafts, tissue expansion, flap surgery, and fat grafting, to achieve their goals. They must have a thorough understanding of anatomy, as well as excellent surgical skills and aesthetic judgment.

Wegener Granulomatosis is a rare, chronic granulomatous vasculitis that affects small and medium-sized blood vessels. It is also known as granulomatosis with polyangiitis (GPA). The disease primarily involves the respiratory tract (nose, sinuses, trachea, and lungs) and kidneys but can affect other organs as well.

The characteristic features of Wegener Granulomatosis include necrotizing granulomas, vasculitis, and inflammation of the blood vessel walls. These abnormalities can lead to various symptoms such as cough, shortness of breath, nosebleeds, sinus congestion, skin lesions, joint pain, and kidney problems.

The exact cause of Wegener Granulomatosis is unknown, but it is believed to be an autoimmune disorder where the body's immune system mistakenly attacks its own tissues and organs. The diagnosis of Wegener Granulomatosis typically involves a combination of clinical symptoms, laboratory tests, imaging studies, and biopsy findings. Treatment usually includes immunosuppressive therapy to control the inflammation and prevent further damage to the affected organs.

Arthritis is a medical condition characterized by inflammation in one or more joints, leading to symptoms such as pain, stiffness, swelling, and reduced range of motion. There are many different types of arthritis, including osteoarthritis, rheumatoid arthritis, psoriatic arthritis, gout, and lupus, among others.

Osteoarthritis is the most common form of arthritis and is caused by wear and tear on the joints over time. Rheumatoid arthritis, on the other hand, is an autoimmune disorder in which the body's immune system mistakenly attacks the joint lining, causing inflammation and damage.

Arthritis can affect people of all ages, including children, although it is more common in older adults. Treatment for arthritis may include medications to manage pain and reduce inflammation, physical therapy, exercise, and in some cases, surgery.

"Small cytoplasmic RNAs" (scRNAs) are a heterogeneous group of non-coding RNA molecules that are typically 100-300 nucleotides in length and are located within the cytoplasm of cells. They play various roles in post-transcriptional regulation of gene expression, including serving as components of ribonucleoprotein complexes involved in mRNA splicing, stability, and translation.

Some specific types of scRNAs include small nuclear RNAs (snRNAs), which are involved in spliceosomal complexes that remove introns from pre-mRNA; small nucleolar RNAs (snoRNAs), which guide chemical modifications of other RNA molecules, such as ribosomal RNAs (rRNAs); and microRNAs (miRNAs), which bind to target mRNAs and inhibit their translation or promote their degradation.

It's worth noting that the term "small cytoplasmic RNA" is a broad category, and individual scRNAs can have distinct functions and characteristics.

An Enzyme-Linked Immunosorbent Assay (ELISA) is a type of analytical biochemistry assay used to detect and quantify the presence of a substance, typically a protein or peptide, in a liquid sample. It takes its name from the enzyme-linked antibodies used in the assay.

In an ELISA, the sample is added to a well containing a surface that has been treated to capture the target substance. If the target substance is present in the sample, it will bind to the surface. Next, an enzyme-linked antibody specific to the target substance is added. This antibody will bind to the captured target substance if it is present. After washing away any unbound material, a substrate for the enzyme is added. If the enzyme is present due to its linkage to the antibody, it will catalyze a reaction that produces a detectable signal, such as a color change or fluorescence. The intensity of this signal is proportional to the amount of target substance present in the sample, allowing for quantification.

ELISAs are widely used in research and clinical settings to detect and measure various substances, including hormones, viruses, and bacteria. They offer high sensitivity, specificity, and reproducibility, making them a reliable choice for many applications.

Hydroxychloroquine is an antimalarial and autoimmune disease medication. It's primarily used to prevent or treat malaria, a disease caused by parasites that enter the body through the bites of infected mosquitoes. It works by killing the malaria parasite in the red blood cells of the human body.

In addition, hydroxychloroquine is also used to treat autoimmune diseases such as rheumatoid arthritis and lupus. In these conditions, the body's immune system mistakenly attacks healthy tissues, causing inflammation and damage. Hydroxychloroquine helps to regulate the immune system and reduce inflammation.

It is important to note that while hydroxychloroquine has been studied as a potential treatment for COVID-19, current evidence does not support its use outside of a clinical trial setting due to lack of efficacy and potential for harm.

A Rheumatoid nodule is defined as a type of non-suppurative inflammatory lesion that occurs in the subcutaneous tissue, commonly associated with rheumatoid arthritis (RA). These nodules are firm, round to oval shaped, and usually range from 0.5 to 5 cm in size. They are typically found over bony prominences such as the elbow, heel, or fingers, but can occur in various locations throughout the body.

Histologically, rheumatoid nodules are characterized by a central area of fibrinoid necrosis surrounded by palisading histiocytes and fibroblasts, with an outer layer of chronic inflammatory cells, including lymphocytes and plasma cells. Rheumatoid nodules can be asymptomatic or cause pain and discomfort, depending on their size and location. They are more common in patients with severe RA and are associated with a poorer prognosis.

Pericardial effusion is an abnormal accumulation of fluid in the pericardial space, which is the potential space between the two layers of the pericardium - the fibrous and serous layers. The pericardium is a sac that surrounds the heart to provide protection and lubrication for the heart's movement during each heartbeat. Normally, there is only a small amount of fluid (5-15 mL) in this space to ensure smooth motion of the heart. However, when an excessive amount of fluid accumulates, it can cause increased pressure on the heart, leading to various complications such as decreased cardiac output and even cardiac tamponade, a life-threatening condition that requires immediate medical attention.

Pericardial effusion may result from several causes, including infections (viral, bacterial, or fungal), inflammatory conditions (such as rheumatoid arthritis, lupus, or cancer), trauma, heart surgery, kidney failure, or iatrogenic causes. The symptoms of pericardial effusion can vary depending on the rate and amount of fluid accumulation. Slowly developing effusions may not cause any symptoms, while rapid accumulations can lead to chest pain, shortness of breath, cough, palpitations, or even hypotension (low blood pressure). Diagnosis is usually confirmed through imaging techniques such as echocardiography, CT scan, or MRI. Treatment depends on the underlying cause and severity of the effusion, ranging from close monitoring to drainage procedures or medications to address the root cause.

Cranial nerve diseases refer to conditions that affect the cranial nerves, which are a set of 12 pairs of nerves that originate from the brainstem and control various functions in the head and neck. These functions include vision, hearing, taste, smell, movement of the eyes and face, and sensation in the face.

Diseases of the cranial nerves can result from a variety of causes, including injury, infection, inflammation, tumors, or degenerative conditions. The specific symptoms that a person experiences will depend on which cranial nerve is affected and how severely it is damaged.

For example, damage to the optic nerve (cranial nerve II) can cause vision loss or visual disturbances, while damage to the facial nerve (cranial nerve VII) can result in weakness or paralysis of the face. Other common symptoms of cranial nerve diseases include pain, numbness, tingling, and hearing loss.

Treatment for cranial nerve diseases varies depending on the underlying cause and severity of the condition. In some cases, medication or surgery may be necessary to treat the underlying cause and relieve symptoms. Physical therapy or rehabilitation may also be recommended to help individuals regain function and improve their quality of life.

Rheumatoid factor (RF) is an autoantibody, specifically an immunoglobulin M (IgM) antibody, that can be detected in the blood serum of some people with rheumatoid arthritis (RA), other inflammatory conditions, and infectious diseases. RF targets the Fc portion of IgG, leading to immune complex formation and subsequent inflammation, which contributes to the pathogenesis of RA. However, not all patients with RA test positive for RF, and its presence does not necessarily confirm a diagnosis of RA. Other conditions can also lead to elevated RF levels, such as infections, liver diseases, and certain malignancies. Therefore, the interpretation of RF results should be considered alongside other clinical, laboratory, and imaging findings for an accurate diagnosis and appropriate management.

Counterimmunoelectrophoresis (CIEP) is a laboratory technique used in the field of immunology and serology for the identification and detection of antigens or antibodies in a sample. It is a type of electrophoretic technique that involves the migration of antigens and antibodies in an electric field towards each other, resulting in the formation of a precipitin line at the point where they meet and react.

In CIEP, the antigen is placed in the gel matrix in a trough or well, while the antibody is placed in a separate trough located perpendicularly to the antigen trough. An electric current is then applied, causing both the antigens and antibodies to migrate towards each other through the gel matrix. When they meet, they form a precipitin line, which can be visualized as a white band or line in the gel.

CIEP is a rapid and sensitive technique that can be used to detect and identify specific antigens or antibodies in a sample. It is often used in the diagnosis of infectious diseases, autoimmune disorders, and other medical conditions where the presence of specific antigens or antibodies needs to be detected.

It's important to note that CIEP has been largely replaced by more modern techniques such as ELISA and Western blotting, which offer greater sensitivity and specificity. However, it is still used in some research and diagnostic settings due to its simplicity and cost-effectiveness.

Microscopic Polyangiitis (MPA) is a rare type of vasculitis, which is a group of disorders that cause inflammation in the blood vessels. In MPA, the small blood vessels in various organs become inflamed and damaged, leading to symptoms that can affect multiple organ systems.

The term "microscopic" refers to the fact that the diagnosis of this condition typically requires examination of tissue samples under a microscope to see the characteristic patterns of inflammation and damage in the small blood vessels.

MPA is an autoimmune disorder, which means that the body's immune system mistakenly attacks its own tissues and organs. In MPA, the immune system produces abnormal antibodies called ANCA (antineutrophil cytoplasmic antibodies) that target certain proteins in the white blood cells, leading to their activation and subsequent damage to the blood vessels.

The symptoms of MPA can vary widely depending on which organs are affected, but they may include fever, fatigue, weight loss, joint pain, skin rashes, cough, shortness of breath, and kidney problems such as proteinuria and hematuria. Treatment typically involves the use of immunosuppressive medications to suppress the overactive immune system and reduce inflammation in the blood vessels.

Immunoglobulin G (IgG) is a type of antibody, which is a protective protein produced by the immune system in response to foreign substances like bacteria or viruses. IgG is the most abundant type of antibody in human blood, making up about 75-80% of all antibodies. It is found in all body fluids and plays a crucial role in fighting infections caused by bacteria, viruses, and toxins.

IgG has several important functions:

1. Neutralization: IgG can bind to the surface of bacteria or viruses, preventing them from attaching to and infecting human cells.
2. Opsonization: IgG coats the surface of pathogens, making them more recognizable and easier for immune cells like neutrophils and macrophages to phagocytose (engulf and destroy) them.
3. Complement activation: IgG can activate the complement system, a group of proteins that work together to help eliminate pathogens from the body. Activation of the complement system leads to the formation of the membrane attack complex, which creates holes in the cell membranes of bacteria, leading to their lysis (destruction).
4. Antibody-dependent cellular cytotoxicity (ADCC): IgG can bind to immune cells like natural killer (NK) cells and trigger them to release substances that cause target cells (such as virus-infected or cancerous cells) to undergo apoptosis (programmed cell death).
5. Immune complex formation: IgG can form immune complexes with antigens, which can then be removed from the body through various mechanisms, such as phagocytosis by immune cells or excretion in urine.

IgG is a critical component of adaptive immunity and provides long-lasting protection against reinfection with many pathogens. It has four subclasses (IgG1, IgG2, IgG3, and IgG4) that differ in their structure, function, and distribution in the body.

The Fluorescent Antibody Technique (FAT) is a type of immunofluorescence assay used in laboratory medicine and pathology for the detection and localization of specific antigens or antibodies in tissues, cells, or microorganisms. In this technique, a fluorescein-labeled antibody is used to selectively bind to the target antigen or antibody, forming an immune complex. When excited by light of a specific wavelength, the fluorescein label emits light at a longer wavelength, typically visualized as green fluorescence under a fluorescence microscope.

The FAT is widely used in diagnostic microbiology for the identification and characterization of various bacteria, viruses, fungi, and parasites. It has also been applied in the diagnosis of autoimmune diseases and certain cancers by detecting specific antibodies or antigens in patient samples. The main advantage of FAT is its high sensitivity and specificity, allowing for accurate detection and differentiation of various pathogens and disease markers. However, it requires specialized equipment and trained personnel to perform and interpret the results.

Cryptogenic organizing pneumonia (COP) is a type of lung disorder that is characterized by the presence of inflammation and scarring in the lungs. The term "cryptogenic" means that the cause of the condition is unknown or unclear.

Organizing pneumonia is a specific pattern of injury to the lungs that can be caused by various factors, including infections, medications, and autoimmune disorders. However, in cases of COP, there is no clear underlying cause that can be identified.

The main symptoms of COP include cough, shortness of breath, fever, and fatigue. The condition can also cause crackles or wheezing sounds when listening to the lungs with a stethoscope. Diagnosis of COP typically involves a combination of imaging studies, such as chest X-rays or CT scans, and lung biopsy.

Treatment for COP usually involves the use of corticosteroids, which can help to reduce inflammation and improve symptoms. In some cases, other medications may also be used to manage the condition. The prognosis for people with COP is generally good, with most individuals responding well to treatment and experiencing improvement in their symptoms over time. However, recurrence of the condition is possible, and long-term monitoring may be necessary.

Esophageal motility disorders are a group of conditions that affect the normal movement (motility) of the muscles in the esophagus, which is the tube that connects the throat to the stomach. The esophageal muscles normally contract and relax in a coordinated manner to help move food from the mouth to the stomach.

In esophageal motility disorders, this muscle movement is impaired, leading to difficulty swallowing (dysphagia), chest pain, heartburn, or regurgitation of food. Some common examples of esophageal motility disorders include:

1. Achalasia: a condition in which the lower esophageal sphincter muscle fails to relax properly, preventing food from passing into the stomach.
2. Diffuse esophageal spasm: a disorder characterized by uncoordinated contractions of the esophageal muscles, leading to difficulty swallowing and chest pain.
3. Nutcracker esophagus: a condition in which the esophageal muscles contract too forcefully, causing pain and difficulty swallowing.
4. Hypertensive lower esophageal sphincter: a disorder in which the lower esophageal sphincter muscle is too tight, making it difficult to swallow and leading to symptoms such as heartburn and regurgitation.
5. Ineffective esophageal motility: a condition in which the esophageal muscles have weak or disorganized contractions, leading to difficulty swallowing and other symptoms.

Esophageal motility disorders can be diagnosed through tests such as manometry, which measures the pressure and coordination of esophageal muscle contractions, or barium swallow studies, which use X-rays to visualize the movement of food through the esophagus. Treatment may include medications, lifestyle changes, or surgery, depending on the specific disorder and its severity.

In medical terms, fingers are not specifically defined as they are common anatomical structures. However, I can provide you with a general anatomy definition:

Fingers are the terminal parts of the upper limb in primates, including humans, consisting of four digits (thumb, index, middle, and ring fingers) and one opposable thumb. They contain bones called phalanges, connected by joints that allow for movement and flexibility. Each finger has a nail, nerve endings for sensation, and blood vessels to supply nutrients and oxygen. Fingers are crucial for various activities such as grasping, manipulating objects, and tactile exploration of the environment.

Scleritis is a serious, painful inflammatory condition that affects the sclera, which is the white, tough outer coating of the eye. It can lead to severe pain, light sensitivity, and potential loss of vision if not promptly treated. Scleritis may occur in isolation or be associated with various systemic diseases such as rheumatoid arthritis, lupus, or granulomatosis with polyangiitis (formerly known as Wegener's granulomatosis). Immediate medical attention is necessary for proper diagnosis and management.

A fatal outcome is a term used in medical context to describe a situation where a disease, injury, or illness results in the death of an individual. It is the most severe and unfortunate possible outcome of any medical condition, and is often used as a measure of the severity and prognosis of various diseases and injuries. In clinical trials and research, fatal outcome may be used as an endpoint to evaluate the effectiveness and safety of different treatments or interventions.

HLA-DR4 is a type of human leukocyte antigen (HLA) class II histocompatibility antigen, which is found on the surface of white blood cells. It is encoded by the HLA-DRA and HLA-DRB1 genes, located on chromosome 6. The HLA-DR4 antigen includes several subtypes, such as DRB1*04:01, DRB1*04:02, DRB1*04:03, DRB1*04:04, DRB1*04:05, DRB1*04:06, DRB1*04:07, DRB1*04:08, DRB1*04:09, DRB1*04:10, DRB1*04:11, and DRB1*04:12.

The HLA-DR4 antigen plays a crucial role in the immune system by presenting peptides to CD4+ T cells, which then stimulate an immune response. This antigen is associated with several autoimmune diseases, including rheumatoid arthritis, type 1 diabetes, and multiple sclerosis. However, it's important to note that having the HLA-DR4 antigen does not necessarily mean that a person will develop one of these conditions, as other genetic and environmental factors also contribute to their development.

Nucleoproteins are complexes formed by the association of proteins with nucleic acids (DNA or RNA). These complexes play crucial roles in various biological processes, such as packaging and protecting genetic material, regulating gene expression, and replication and repair of DNA. In these complexes, proteins interact with nucleic acids through electrostatic, hydrogen bonding, and other non-covalent interactions, leading to the formation of stable structures that help maintain the integrity and function of the genetic material. Some well-known examples of nucleoproteins include histones, which are involved in DNA packaging in eukaryotic cells, and reverse transcriptase, an enzyme found in retroviruses that transcribes RNA into DNA.

Antibody specificity refers to the ability of an antibody to bind to a specific epitope or antigenic determinant on an antigen. Each antibody has a unique structure that allows it to recognize and bind to a specific region of an antigen, typically a small portion of the antigen's surface made up of amino acids or sugar residues. This highly specific binding is mediated by the variable regions of the antibody's heavy and light chains, which form a pocket that recognizes and binds to the epitope.

The specificity of an antibody is determined by its unique complementarity-determining regions (CDRs), which are loops of amino acids located in the variable domains of both the heavy and light chains. The CDRs form a binding site that recognizes and interacts with the epitope on the antigen. The precise fit between the antibody's binding site and the epitope is critical for specificity, as even small changes in the structure of either can prevent binding.

Antibody specificity is important in immune responses because it allows the immune system to distinguish between self and non-self antigens. This helps to prevent autoimmune reactions where the immune system attacks the body's own cells and tissues. Antibody specificity also plays a crucial role in diagnostic tests, such as ELISA assays, where antibodies are used to detect the presence of specific antigens in biological samples.

Nuclear antigens are proteins or other molecules found in the nucleus of a cell that can stimulate an immune response and produce antibodies when they are recognized as foreign by the body's immune system. These antigens are normally located inside the cell and are not typically exposed to the immune system, but under certain circumstances, such as during cell death or damage, they may be released and become targets of the immune system.

Nuclear antigens can play a role in the development of some autoimmune diseases, such as systemic lupus erythematosus (SLE), where the body's immune system mistakenly attacks its own cells and tissues. In SLE, nuclear antigens such as double-stranded DNA and nucleoproteins are common targets of the abnormal immune response.

Testing for nuclear antigens is often used in the diagnosis and monitoring of autoimmune diseases. For example, a positive test for anti-double-stranded DNA antibodies is a specific indicator of SLE and can help confirm the diagnosis. However, it's important to note that not all people with SLE will have positive nuclear antigen tests, and other factors must also be considered in making a diagnosis.

A biological marker, often referred to as a biomarker, is a measurable indicator that reflects the presence or severity of a disease state, or a response to a therapeutic intervention. Biomarkers can be found in various materials such as blood, tissues, or bodily fluids, and they can take many forms, including molecular, histologic, radiographic, or physiological measurements.

In the context of medical research and clinical practice, biomarkers are used for a variety of purposes, such as:

1. Diagnosis: Biomarkers can help diagnose a disease by indicating the presence or absence of a particular condition. For example, prostate-specific antigen (PSA) is a biomarker used to detect prostate cancer.
2. Monitoring: Biomarkers can be used to monitor the progression or regression of a disease over time. For instance, hemoglobin A1c (HbA1c) levels are monitored in diabetes patients to assess long-term blood glucose control.
3. Predicting: Biomarkers can help predict the likelihood of developing a particular disease or the risk of a negative outcome. For example, the presence of certain genetic mutations can indicate an increased risk for breast cancer.
4. Response to treatment: Biomarkers can be used to evaluate the effectiveness of a specific treatment by measuring changes in the biomarker levels before and after the intervention. This is particularly useful in personalized medicine, where treatments are tailored to individual patients based on their unique biomarker profiles.

It's important to note that for a biomarker to be considered clinically valid and useful, it must undergo rigorous validation through well-designed studies, including demonstrating sensitivity, specificity, reproducibility, and clinical relevance.

In medical terms, the skin is the largest organ of the human body. It consists of two main layers: the epidermis (outer layer) and dermis (inner layer), as well as accessory structures like hair follicles, sweat glands, and oil glands. The skin plays a crucial role in protecting us from external factors such as bacteria, viruses, and environmental hazards, while also regulating body temperature and enabling the sense of touch.

Fibroblasts are specialized cells that play a critical role in the body's immune response and wound healing process. They are responsible for producing and maintaining the extracellular matrix (ECM), which is the non-cellular component present within all tissues and organs, providing structural support and biochemical signals for surrounding cells.

Fibroblasts produce various ECM proteins such as collagens, elastin, fibronectin, and laminins, forming a complex network of fibers that give tissues their strength and flexibility. They also help in the regulation of tissue homeostasis by controlling the turnover of ECM components through the process of remodeling.

In response to injury or infection, fibroblasts become activated and start to proliferate rapidly, migrating towards the site of damage. Here, they participate in the inflammatory response, releasing cytokines and chemokines that attract immune cells to the area. Additionally, they deposit new ECM components to help repair the damaged tissue and restore its functionality.

Dysregulation of fibroblast activity has been implicated in several pathological conditions, including fibrosis (excessive scarring), cancer (where they can contribute to tumor growth and progression), and autoimmune diseases (such as rheumatoid arthritis).

Respiratory Function Tests (RFTs) are a group of medical tests that measure how well your lungs take in and exhale air, and how well they transfer oxygen and carbon dioxide into and out of your blood. They can help diagnose certain lung disorders, measure the severity of lung disease, and monitor response to treatment.

RFTs include several types of tests, such as:

1. Spirometry: This test measures how much air you can exhale and how quickly you can do it. It's often used to diagnose and monitor conditions like asthma, chronic obstructive pulmonary disease (COPD), and other lung diseases.
2. Lung volume testing: This test measures the total amount of air in your lungs. It can help diagnose restrictive lung diseases, such as pulmonary fibrosis or sarcoidosis.
3. Diffusion capacity testing: This test measures how well oxygen moves from your lungs into your bloodstream. It's often used to diagnose and monitor conditions like pulmonary fibrosis, interstitial lung disease, and other lung diseases that affect the ability of the lungs to transfer oxygen to the blood.
4. Bronchoprovocation testing: This test involves inhaling a substance that can cause your airways to narrow, such as methacholine or histamine. It's often used to diagnose and monitor asthma.
5. Exercise stress testing: This test measures how well your lungs and heart work together during exercise. It's often used to diagnose lung or heart disease.

Overall, Respiratory Function Tests are an important tool for diagnosing and managing a wide range of lung conditions.

Immediate-early proteins (IEPs) are a class of regulatory proteins that play a crucial role in the early stages of gene expression in viral infection and cellular stress responses. These proteins are synthesized rapidly, without the need for new protein synthesis, after the induction of immediate-early genes (IEGs).

In the context of viral infection, IEPs are often the first proteins produced by the virus upon entry into the host cell. They function as transcription factors that bind to specific DNA sequences and regulate the expression of early and late viral genes required for replication and packaging of the viral genome.

IEPs can also be involved in modulating host cell signaling pathways, altering cell cycle progression, and inducing apoptosis (programmed cell death). Dysregulation of IEPs has been implicated in various diseases, including cancer and neurological disorders.

It is important to note that the term "immediate-early proteins" is primarily used in the context of viral infection, while in other contexts such as cellular stress responses or oncogene activation, these proteins may be referred to by different names, such as "early response genes" or "transcription factors."

Collagen is the most abundant protein in the human body, and it is a major component of connective tissues such as tendons, ligaments, skin, and bones. Collagen provides structure and strength to these tissues and helps them to withstand stretching and tension. It is made up of long chains of amino acids, primarily glycine, proline, and hydroxyproline, which are arranged in a triple helix structure. There are at least 16 different types of collagen found in the body, each with slightly different structures and functions. Collagen is important for maintaining the integrity and health of tissues throughout the body, and it has been studied for its potential therapeutic uses in various medical conditions.

Skin diseases, also known as dermatological conditions, refer to any medical condition that affects the skin, which is the largest organ of the human body. These diseases can affect the skin's function, appearance, or overall health. They can be caused by various factors, including genetics, infections, allergies, environmental factors, and aging.

Skin diseases can present in many different forms, such as rashes, blisters, sores, discolorations, growths, or changes in texture. Some common examples of skin diseases include acne, eczema, psoriasis, dermatitis, fungal infections, viral infections, bacterial infections, and skin cancer.

The symptoms and severity of skin diseases can vary widely depending on the specific condition and individual factors. Some skin diseases are mild and can be treated with over-the-counter medications or topical creams, while others may require more intensive treatments such as prescription medications, light therapy, or even surgery.

It is important to seek medical attention if you experience any unusual or persistent changes in your skin, as some skin diseases can be serious or indicative of other underlying health conditions. A dermatologist is a medical doctor who specializes in the diagnosis and treatment of skin diseases.

Behçet syndrome is a rare inflammatory disease that can cause symptoms in various parts of the body. It's characterized by recurrent mouth sores (aphthous ulcers), genital sores, and inflammation of the eyes (uveitis). The condition may also cause skin lesions, joint pain and swelling, and inflammation of the digestive tract, brain, or spinal cord.

The exact cause of Behçet syndrome is not known, but it's thought to be an autoimmune disorder, in which the body's immune system mistakenly attacks its own healthy cells and tissues. The condition tends to affect men more often than women and typically develops during a person's 20s or 30s.

There is no cure for Behçet syndrome, but treatments can help manage symptoms and prevent complications. Treatment options may include medications such as corticosteroids, immunosuppressants, and biologics to reduce inflammation, as well as pain relievers and other supportive therapies.

Cardiac tamponade is a serious medical condition that occurs when there is excessive fluid or blood accumulation in the pericardial sac, which surrounds the heart. This accumulation puts pressure on the heart, preventing it from filling properly and reducing its ability to pump blood effectively. As a result, cardiac output decreases, leading to symptoms such as low blood pressure, shortness of breath, chest pain, and a rapid pulse. If left untreated, cardiac tamponade can be life-threatening, requiring emergency medical intervention to drain the fluid and relieve the pressure on the heart.

Immunosuppressive agents are medications that decrease the activity of the immune system. They are often used to prevent the rejection of transplanted organs and to treat autoimmune diseases, where the immune system mistakenly attacks the body's own tissues. These drugs work by interfering with the immune system's normal responses, which helps to reduce inflammation and damage to tissues. However, because they suppress the immune system, people who take immunosuppressive agents are at increased risk for infections and other complications. Examples of immunosuppressive agents include corticosteroids, azathioprine, cyclophosphamide, mycophenolate mofetil, tacrolimus, and sirolimus.

Intercellular signaling peptides and proteins are molecules that mediate communication and interaction between different cells in living organisms. They play crucial roles in various biological processes, including cell growth, differentiation, migration, and apoptosis (programmed cell death). These signals can be released into the extracellular space, where they bind to specific receptors on the target cell's surface, triggering intracellular signaling cascades that ultimately lead to a response.

Peptides are short chains of amino acids, while proteins are larger molecules made up of one or more polypeptide chains. Both can function as intercellular signaling molecules by acting as ligands for cell surface receptors or by being cleaved from larger precursor proteins and released into the extracellular space. Examples of intercellular signaling peptides and proteins include growth factors, cytokines, chemokines, hormones, neurotransmitters, and their respective receptors.

These molecules contribute to maintaining homeostasis within an organism by coordinating cellular activities across tissues and organs. Dysregulation of intercellular signaling pathways has been implicated in various diseases, such as cancer, autoimmune disorders, and neurodegenerative conditions. Therefore, understanding the mechanisms underlying intercellular signaling is essential for developing targeted therapies to treat these disorders.

Immunoblotting, also known as western blotting, is a laboratory technique used in molecular biology and immunogenetics to detect and quantify specific proteins in a complex mixture. This technique combines the electrophoretic separation of proteins by gel electrophoresis with their detection using antibodies that recognize specific epitopes (protein fragments) on the target protein.

The process involves several steps: first, the protein sample is separated based on size through sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE). Next, the separated proteins are transferred onto a nitrocellulose or polyvinylidene fluoride (PVDF) membrane using an electric field. The membrane is then blocked with a blocking agent to prevent non-specific binding of antibodies.

After blocking, the membrane is incubated with a primary antibody that specifically recognizes the target protein. Following this, the membrane is washed to remove unbound primary antibodies and then incubated with a secondary antibody conjugated to an enzyme such as horseradish peroxidase (HRP) or alkaline phosphatase (AP). The enzyme catalyzes a colorimetric or chemiluminescent reaction that allows for the detection of the target protein.

Immunoblotting is widely used in research and clinical settings to study protein expression, post-translational modifications, protein-protein interactions, and disease biomarkers. It provides high specificity and sensitivity, making it a valuable tool for identifying and quantifying proteins in various biological samples.

Methylprednisolone is a synthetic glucocorticoid drug, which is a class of hormones that naturally occur in the body and are produced by the adrenal gland. It is often used to treat various medical conditions such as inflammation, allergies, and autoimmune disorders. Methylprednisolone works by reducing the activity of the immune system, which helps to reduce symptoms such as swelling, pain, and redness.

Methylprednisolone is available in several forms, including tablets, oral suspension, and injectable solutions. It may be used for short-term or long-term treatment, depending on the condition being treated. Common side effects of methylprednisolone include increased appetite, weight gain, insomnia, mood changes, and increased susceptibility to infections. Long-term use of methylprednisolone can lead to more serious side effects such as osteoporosis, cataracts, and adrenal suppression.

It is important to note that methylprednisolone should be used under the close supervision of a healthcare provider, as it can cause serious side effects if not used properly. The dosage and duration of treatment will depend on various factors such as the patient's age, weight, medical history, and the condition being treated.

Retrospective studies, also known as retrospective research or looking back studies, are a type of observational study that examines data from the past to draw conclusions about possible causal relationships between risk factors and outcomes. In these studies, researchers analyze existing records, medical charts, or previously collected data to test a hypothesis or answer a specific research question.

Retrospective studies can be useful for generating hypotheses and identifying trends, but they have limitations compared to prospective studies, which follow participants forward in time from exposure to outcome. Retrospective studies are subject to biases such as recall bias, selection bias, and information bias, which can affect the validity of the results. Therefore, retrospective studies should be interpreted with caution and used primarily to generate hypotheses for further testing in prospective studies.

Mixed connective tissue disease - Mixed connective-tissue disease (MCTD) is a disorder in which features of various connective- ... A connective tissue disease (collagenosis) is any disease that has the connective tissues of the body as a target of pathology ... Undifferentiated connective tissue disease (UCTD) is a disease in which the body mistakenly attacks its own tissues. It is ... Merck Manual: Musculoskeletal and connective tissue disorders Merck Manual: Inherited connective tissue disorders Arthritis ...
"Mixed Connective Tissue Disease, MCTD". The Free Dictionary by Farlex. Nevares AM, Larner R. "Mixed Connective Tissue Disease ( ... "Mixed Connective Tissue Disease (MCTD)". MedicineNet.com. Nevares AM, Larner R. "Mixed Connective Tissue Disease (MCTD): ... Connective tissue diseases, Disorders of fascia, Systemic connective tissue disorders, Autoimmune diseases). ... Autoimmune Disorders of Connective Tissue". Merck Manual Home Health Handbook. "Mixed connective tissue disease - Symptoms and ...
710 Diffuse diseases of connective tissue 710.0 Systemic lupus erythematosus 710.2 Sjögren's syndrome 710.3 Dermatomyositis ... Diseases of the Musculoskeletal System and Connective Tissue. It covers ICD codes 710 to 739. The full chapter can be found on ... 710.4 Polymyositis 710.5 Eosinophilia myalgia syndrome 710.9 Connective tissue disease, unspec. 711 Arthropathy associated with ... 727.03 Trigger finger, acquired 727.04 de Quervain's disease 727.05 Tenosynovitis, hand/wrist 727.06 Tenosynovitis, foot/ankle ...
2013). "Connective Tissue Diseases". Rheumatology. London: Manson Publishing. p. 117. ISBN 978-1-84076-173-3. Smith CR, ... Rheumatoid arthritis Sjögren's syndrome Dermatomyositis Polymyositis Mixed connective tissue disease Cold agglutinin disease ... Secondary Raynaud's can occur due to a connective-tissue disorder such as scleroderma or lupus, injuries to the hands, ... Nail fold capillary examination or "capillaroscopy" is one of the most sensitive methods to diagnose RS with connective tissue ...
In addition to SLE, these antibodies are highly associated with mixed connective tissue disease. Anti-nRNP antibodies recognise ... They are highly associated with polymyositis and dermatomyositis, and are rarely found in other connective tissue diseases. ... A significant number of patients are diagnosed as systemic lupus erythematosus or undifferentiated connective tissue disease ... Venables PJ (2006). "Mixed connective tissue disease". Lupus. 15 (3): 132-7. doi:10.1191/0961203306lu2283rr. PMID 16634365. ...
"Mixed Connective Tissue Disease (MCTD) , Cleveland Clinic". my.clevelandclinic.org. Retrieved 2016-11-07. Ruigrok, Rob WH; ... Anti-RNP antibodies are autoantibodies associated with mixed connective tissue disease and are also detected in nearly 40% of ... "RNA-binding proteins in human genetic disease". Trends in Genetics. 24 (8): 416-425. doi:10.1016/j.tig.2008.05.004. ISSN 0168- ...
Autoimmune Mixed connective tissue disease Maddison PJ (December 1991). "Overlap syndromes and mixed connective tissue disease ... Examples of overlap syndromes in rheumatology include mixed connective tissue disease and scleromyositis. Diagnosis depends on ... "Overlap connective tissue disease syndromes". Autoimmunity Reviews. 12 (3): 363-73. doi:10.1016/j.autrev.2012.06.004. PMID ... Examples of overlap syndromes can be found in many medical specialties such as overlapping connective tissue disorders in ...
Hohenstein, B.; Bornstein, S.R.; Aringer, M. (2013). "Immunoadsorption for connective tissue disease". Atherosclerosis ... Immunoadsorption could be used in various autoimmune-mediated neurological diseases in order to remove autoimmune antibodies ... "Safety and Tolerability of Plasma Exchange and Immunoadsorption in Neuroinflammatory Diseases". Journal of Clinical Medicine. 9 ...
Neurological manifestations of connective tissue disease. Neurol Clinics 2002;20:151-178. "RR&D Brain Rehabilitation Research ... and neurological manifestations of vasculitis and connective tissue disease. He has been the medical director of two VA Office ...
Trozak D, Gould W (1984). "Cocaine abuse and connective tissue disease". J Am Acad Dermatol. 10 (3): 525. doi:10.1016/S0190- ... Moore PM, Richardson B (1998). "Neurology of the vasculitides and connective tissue diseases". J. Neurol. Neurosurg. Psychiatry ... and pathological restricting of lung tissue. Cocaine may also increase risk for autoimmune disease and damage nasal cartilage. ... Moderate coffee consumption may decrease the risk of cardiovascular disease, and it may somewhat reduce the risk of type 2 ...
Autoimmune diseases, Systemic connective tissue disorders). ... Systemic vasculitides are a group of heterogeneous diseases ... Some examples of this group include granulomatosis with polyangiitis, polyarteritis nodosa, Behçet's disease, and HSP. Gonzalez ...
Halper, J (2014). "Connective tissue disorders in domestic animals". Progress in Heritable Soft Connective Tissue Diseases. ... Congenital and hereditary diseases of skin". In Maxie, G (ed.). Jubb, Kennedy & Palmer's Pathology of Domestic Animals (6th ed ... v t e (All articles with unsourced statements, Articles with unsourced statements from August 2017, Mammal diseases, All stub ...
Connective tissue components of Peyronie's disease plaque. Abstract 748. Journal of Urology 163:169, 2000 7. Michael Shaw, Lev ... Peyronie's Disease and its Medical Management in Male Infertility and Sexual Dysfunction. Wayne J.G Hellstrom editor. Springer- ...
Bushby KM, Collins J, Hicks D (2014). "Collagen Type VI Myopathies". Progress in Heritable Soft Connective Tissue Diseases. ... and other diseases related to muscle and connective tissue. This gene encodes the alpha 3 chain, one of the three alpha chains ... Other disorders involving muscle and connective tissue include weakness, joint laxity and contractures, and abnormal skin. ... a beaded filament collagen found in most connective tissues. The alpha 3 chain of type VI collagen is much larger than the ...
Progress in Heritable Soft Connective Tissue Diseases. Advances in Experimental Medicine and Biology. Vol. 802. pp. 31-47. doi: ... Halper J, Kjaer M (2014). "Basic Components of Connective Tissues and Extracellular Matrix: Elastin, Fibrillin, Fibulins, ... Differences between rapid and slow progression of disease identified by serum markers of cartilage metabolism". The Journal of ... "Cartilage oligomeric matrix protein level in rheumatic diseases: potential use as a marker for measuring articular cartilage ...
Halper J (2014). "Proteoglycans and Diseases of Soft Tissues". Progress in Heritable Soft Connective Tissue Diseases. Advances ... and the non-disease-associated form bind differentially to C-reactive protein, fibromodulin, DNA, and necrotic cells". The ... Molecular Basis of Disease. 1406 (2): 203-13. doi:10.1016/S0925-4439(98)00005-2. PMID 9573366. Font B, Eichenberger D, ... so non-glycated forms of fibromodulin can accumulate in tissues such as cartilage. Fibromodulin is found in the epidermis of ...
Progress in Heritable Soft Connective Tissue Diseases. Advances in Experimental Medicine and Biology. Vol. 802. pp. 201-30. doi ... In menopausal endometrial tissue, the level of lumican expression decreases and is also low in pathological compared to normal ... Lumican is present in the extracellular matrix of uteral tissues in fertile women. There is an increase of lumican during the ... Lum knockout mice also have abnormal collagen in their heart tissue, with fewer and thicker fibrils. Mice deficient in both ...
Halper J (2014). "Connective Tissue Disorders in Domestic Animals". Progress in Heritable Soft Connective Tissue Diseases. ... Abnormalities of dermal fibrous and elastic tissue, Collagen disease, Congenital disorders, Connective tissue diseases, ... Collagen provides structure and strength to connective tissue. A defect in collagen can weaken connective tissue in the skin, ... However, as connective tissue is found throughout the body, EDS may result in an array of unexpected impacts with any degree of ...
AD is more common in those with a history of high blood pressure; a number of connective tissue diseases that affect blood ... Progress in Heritable Soft Connective Tissue Diseases. Advances in Experimental Medicine and Biology. Vol. 802. pp. 77-94. doi: ... Repair may be recommended when greater than 4.5 cm (1.8 in) in size if the person has one of the several connective-tissue ... Aortic dissection is associated with hypertension (high blood pressure) and many connective tissue disorders. Vasculitis ( ...
They may be associated with connective tissue diseases. The sign is named after the dermatologist Irwin M. Braverman. Patel, ... Skin signs of systemic disease. New York: Elsevier; 2008. ISBN 9780721637457 Patel LM, Lambert PJ, Gagna CE, Maghari A, Lambert ... Laju M.; Lambert, Phelps J.; Gagna, Claude E.; Maghari, Amin; Lambert, W. Clark (2011). "Cutaneous signs of systemic disease". ... WC (2011). "Cutaneous signs of systemic disease". Clin. Dermatol. 29 (5): 511-22. doi:10.1016/j.clindermatol.2011.01.019. PMID ...
Parish JG (1967). "Skeletal hand charts in inherited connective tissue disease". Journal of Medical Genetics. 4 (4): 227-38. ...
Marfan syndrome Connective tissue disease "How We Help". The Marfan Foundation. Retrieved 2014-09-14. "Celebrate National ... of saving lives and improving the quality of life for people affected by the condition which is a genetic connective tissue ... "Walk for Victory at TeWinkle Park to honor Rare Disease Day". Daily Pilot. 2020-02-29. Retrieved 2020-09-08. Official website ...
50mm and connective tissue disease Ascending aortic aneurysm > 50mm and risk factors and connective tissue disease The goal of ... Cusp tissue is resected where it is grossly abnormal. Using patch tissue, the cusps are enlarged so they reach the second (new ... Tissue of the aortic valve is removed or detached from the aorta in places where it is clearly abnormal. The location of a ... Tissue redundancy through stretching is corrected by sutures. The unicuspid aortic valve may not only result in relevant ...
... is a skin and connective tissue disease. It is a form of lower extremity panniculitis, an inflammation of ... Fibrotic tissue may predispose the tissue to ulceration. Recurrent ulceration and fat necrosis is associated with ... Sleisenger & Fordtran's Gastrointestinal and Liver Disease, 7th ed . In: . Diseases of the mesentery and omentum. Philadelphia ... Venous disease, such as venous incompetence, venous hypertension, and body mass (obesity) may be relevant to the underlying ...
August 1988). "An inherited connective tissue disease in the horse". Laboratory Investigation. 59 (2): 253-62. PMID 3404977. ... Managed breeding strategy is currently the only option for reducing the incidence of the disease. The disease is found ... is an inherited autosomal recessive connective tissue disorder. It develops from a homozygous recessive mutation that weakens ... The disease first was recognized in 1971. Research of affected animals indicated that 95% of the identified HERDA horses have ...
An inherited connective tissue disease in the horse. Kadash, Kathy "Poco Bueno: Preserving the Past for the Future" Western ... Poco Bueno is the stallion that is linked to the genetic disease Hereditary Equine Regional Dermal Asthenia (HERDA) in stock ...
"Mixed connective tissue disease presenting as trigeminal neuropathy". Postgrad Med J. 58 (678): 237-238. doi:10.1136/pgmj. ... Later in his career he became interested in the role of trace elements in the causation of neurological disease, delivering the ...
Common causes include autoimmune diseases and connective tissue diseases. Diagnosis of DAH is often given following observation ... Park, Moo Suk (April 2013). "Diffuse Alveolar Hemorrhage". Tuberculosis and Respiratory Diseases. 74 (4): 151-62. doi:10.4046/ ...
2008). "Vitamin D deficiency in undifferentiated connective tissue disease". Arthritis Res. Ther. 10 (5): R123. doi:10.1186/ ...
The term may sometimes also characterize connective tissue disease. A disseminated infection, for example, has extended beyond ... Disseminated disease refers to a diffuse disease-process, generally either infectious or neoplastic. ... Disseminated disease is often contrasted with localized disease. Summerbell, R.C.; Richardson, S.E.; Kane, J. (1988). "Fusarium ... v t e (Articles needing additional references from August 2023, All articles needing additional references, Diseases and ...
Mixed connective tissue disease - Mixed connective-tissue disease (MCTD) is a disorder in which features of various connective- ... A connective tissue disease (collagenosis) is any disease that has the connective tissues of the body as a target of pathology ... Undifferentiated connective tissue disease (UCTD) is a disease in which the body mistakenly attacks its own tissues. It is ... Merck Manual: Musculoskeletal and connective tissue disorders Merck Manual: Inherited connective tissue disorders Arthritis ...
The diversity of signs and symptoms frequently complicates the diagnosis of a rheumatic disease. ... Connective-tissue diseases (CTDs) manifest with a wide range of clinical findings and laboratory abnormalities. ... encoded search term (Undifferentiated Connective-Tissue Disease) and Undifferentiated Connective-Tissue Disease What to Read ... patients with undifferentiated connective tissue diseases compared with cohorts of well established connective tissue disease. ...
There are many types of connective tissue disease, each with different symptoms and treatments. Here are some of the most well ... Connective tissue diseases are a group of conditions that affect the connective tissue in the body. Connective tissue provides ... Diseases that affect the function or structure of connective tissue are known as connective tissue diseases. There are more ... Connective tissue diseases are diseases that affect the function or structure of connective tissue. ...
The meaning of MIXED CONNECTIVE TISSUE DISEASE is a syndrome characterized by symptoms of various rheumatic diseases (as ... Post the Definition of mixed connective tissue disease to Facebook Facebook Share the Definition of mixed connective tissue ... "Mixed connective tissue disease." Merriam-Webster.com Medical Dictionary, Merriam-Webster, https://www.merriam-webster.com/ ... a syndrome characterized by symptoms of various rheumatic diseases (as systemic lupus erythematosus, scleroderma, and ...
It could be mixed connective tissue disease. Learn more about this rare autoimmune disease and how its treated. ... rarediseases.info.nih.gov/diseases/7051/mixed-connective-tissue-disease. *. Mixed connective tissue disease (MCTD). (2017).. ... 2020). Mixed connective tissue disease.. https://www.mayoclinic.org/diseases-conditions/mixed-connective-tissue-disease/ ... Mixed connective tissue disease (MCTD) is a rare autoimmune disorder. Its sometimes called an overlap disease because many of ...
Undifferentiated connective tissue disease (UCTD) and its causes and distribution among the population, especially in women. ... People of all races and ethnic backgrounds may develop undifferentiated connective tissue disease. It occurs more commonly in ... Although the cause of UCTD is not known, we do know that UCTD is an autoimmune disease. The abnormal immune response may lead ... For more than 100 years, National Jewish Health has been committed to finding new treatments and cures for diseases. Search our ...
... distinct pulmonary manifestation within the spectrum of CTD-associated lung diseases in smokers or former smokers, especially ... Objective: Connective tissue diseases (CTDs) are associated with several interstitial lung diseases. The aim of this study was ... Combined pulmonary fibrosis and emphysema syndrome in connective tissue disease Arthritis Rheum. 2011 Jan;63(1):295-304. doi: ... Connective Tissue Diseases / complications * Connective Tissue Diseases / diagnostic imaging * Connective Tissue Diseases / ...
... the clinical entity idiopathic NSIP is different from idiopathic pulmonary fibrosis and appears to be an autoimmune disease. ... Idiopathic nonspecific interstitial pneumonia: lung manifestation of undifferentiated connective tissue disease? Am J Respir ... Connective Tissue Diseases / complications * Connective Tissue Diseases / diagnosis* * Connective Tissue Diseases / diagnostic ... that idiopathic NSIP is an autoimmune disease and the lung manifestation of undifferentiated connective tissue disease (UCTD), ...
Collagen-vascular diseases (CVDs) are a heterogeneous group of autoimmune disorders characterized by the presence of ... Connective Tissue Disease-Associated Interstitial Lung Disease (CTD-ILD) * Sections Connective Tissue Disease-Associated ... encoded search term (Connective Tissue Disease-Associated Interstitial Lung Disease (CTD-ILD)) and Connective Tissue Disease- ... Drugs & Diseases , Pulmonology Connective Tissue Disease-Associated Interstitial Lung Disease (CTD-ILD) Guidelines. Updated: ...
... has further clarified the clinical manifestations of undifferentiated connective tissue disease (UCTD). ... New HSS study clarifies the clinical manifestations of undifferentiated connective tissue disease. *Download PDF Copy ... has further clarified the clinical manifestations of undifferentiated connective tissue disease (UCTD). The findings were ... very important to understand what features differentiate patients with UCTD from those with defined connective tissue diseases ...
... By Warren R. Heymann, MD. Nov. 2, 2017. ... connective tissue growth factor and interleukin-6 (IL-6). Interestingly, this inhibitory effect was not abrogated by selective ... Cannabinoids and autoimmune diseases: A systematic review. Autoimmun Rev 2016; 15: 513-28.. 3. Garcia-Gonzalez E, et al. Can ... Much remains to be learned regarding the potential use of cannabinoids for patients with collagen vascular diseases. Perhaps ...
Mutations in human and/or mouse homologs are associated with this disease. ... Disease Ontology Browser autoimmune disease of skin and connective tissue (DOID:0060039) Alliance: disease page Definition: An ... that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue. ... autoimmune disease that is the abnormal functioning of the immune system ...
Cite this page: Amita R. Connective tissue diseases. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/ ... Valvular disease associated with autoimmune diseases is most often clinically quiescent but a few patients develop rapid, ... Echocardiographic and autopsy studies show valvular abnormalities in up to 70% of patients with systemic autoimmune disease, ... Bacterial endocarditis prophylaxis should be considered for these patients with valvular heart disease following American Heart ...
Hear our PF experts explain what an autoimmune ILD is and what the differences are between this and other ILDs.
... under a standard hydrostatic pressure were measured in 20 normal female subjects and 44 female subjects with connective tissue ... A simple non-invasive method for studying microvascular filtration in the non-articular tissues of the forearm is described. ...
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Mixed connective tissue disease Articles Case Reports Symptoms Treatment, China. ...
Home > 2015 ICD-9-CM Diagnosis Codes > Diseases Of The Musculoskeletal System And Connective Tissue 710-739 > Arthropathies And ... Syndrome - see also Disease*. systemic*. fibrosclerosing 710.8. *. inflammatory response (SIRS) 995.90. *. due to*. infectious ... ICD-9-CM codes are used in medical billing and coding to describe diseases, injuries, symptoms and conditions. ICD-9-CM 710.8 ...
EmPHasis-10 health-related quality of life score predicts outcomes in patients with idiopathic and connective tissue disease- ... EmPHasis-10 health-related quality of life score predicts outcomes in patients with idiopathic and connective tissue disease- ... EmPHasis-10 health-related quality of life score predicts outcomes in patients with idiopathic and connective tissue disease- ... EmPHasis-10 health-related quality of life score predicts outcomes in patients with idiopathic and connective tissue disease- ...
Auto immune diseases 01 - Connective Tissue Diseases (ANA) [Autoimmunerkrankungen 01 - Kollagenosen (ANA)] ...
Connective tissue disease-associated interstitial lung disease: A call for clarification. Chest 2010;138:251-6. ... Mycophenolate Mofetil Improves Lung Function in Connective Tissue Disease-associated Interstitial Lung Disease. Aryeh Fischer, ... Mycophenolate Mofetil Improves Lung Function in Connective Tissue Disease-associated Interstitial Lung Disease ... Mycophenolate Mofetil Improves Lung Function in Connective Tissue Disease-associated Interstitial Lung Disease ...
The impact of COVID-19 on rare and complex connective tissue diseases: the experience of ERN ReCONNET. Nat. Rev. Rheumatol., 17 ... The impact of this health emergency is particularly relevant in the rare connective tissue diseases (rCTDs) communities, as ... The impact of COVID-19 on rare and complex connective tissue diseases: the experience of ERN ReCONNET ... article by the multi-stakeholder European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases ...
Kienböck Disease - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the MSD Manuals - Medical ... Kienböck Disease (Kienböcks Disease). By David R. Steinberg , MD, Perelman School of Medicine at the University of ... Symptoms and Signs of Kienböck Disease Symptoms of Kienböck disease generally start with insidious onset of wrist pain, ... Kienböck disease occurs most commonly in the dominant hand of men aged 20 to 45, usually in workers doing heavy manual labor. ...
Immunosuppressive therapy in connective tissue diseases-associated pulmonary arterial hypertension. Chest 2006; 130: 182-189. ... Connective tissue disease associated with pulmonary arterial hypertension: management of a patient with severe haemodynamic ... Long-term outcome in mixed connective tissue disease: longitudinal clinical and serologic findings. Arthritis Rheum 1999; 42: ... Connective tissue disease associated with pulmonary arterial hypertension: management of a patient with severe haemodynamic ...
Rituximab in autoimmune connective tissue disease-associated interstitial lung disease. In: Rheumatology. 2016 ; Vol. 55, No. 7 ... Rituximab in autoimmune connective tissue disease-associated interstitial lung disease. Rheumatology. 2016 Jul 1;55(7):1318- ... Rituximab in autoimmune connective tissue disease-associated interstitial lung disease. Charles Sharp, Melanie McCabe, Nick ... Rituximab in autoimmune connective tissue disease-associated interstitial lung disease. / Sharp, Charles; McCabe, Melanie; ...
Mixed Connective Tissue Disease - Mixed connective-tissue disease (MCTD) is a disorder in which features of various connective- ... A connective tissue disease is any disease that has the connective tissues of the body as a primary target of pathology. ... Many connective tissue diseases feature abnormal immune system activity with inflammation in tissues as a result of an immune ... Collagen vascular disease is a somewhat antiquated term used to describe diseases of the connective tissues that typically ...
What is mixed connective tissue disease?. Mixed connective tissue disease, as first described in 1972, is "classically" ... What diseases characteristically affect connective tissue?. Diseases of connective tissue that are strictly inheritable (due to ... Connective tissue diseases are disorders featuring abnormalities involving the collagen and elastin. Connective tissue diseases ... The precise cause of mixed connective tissue disease isnt known.. Mixed connective tissue disease is an autoimmune disorder. ...
Sharp and colleagues first proposed mixed connective tissue disease (MCTD) as a separate autoimmune disorder. The initial ... encoded search term (Pediatric Mixed Connective Tissue Disease) and Pediatric Mixed Connective Tissue Disease What to Read Next ... Classification and diagnostic criteria for mixed connective tissue disease. Kasukawa R, Sharp GC, eds. Mixed Connective Tissue ... Drugs & Diseases , Pediatrics: General Medicine Pediatric Mixed Connective Tissue Disease Differential Diagnoses. Updated: Jan ...
... When a rheumatologist encounters a Gardner-Diamond syndrome. Beyond Rheumatology 2020; 2 (3): e283 ...
Comprehensive DNA sequencing in Germany for the analysis of all genes associated with hereditary connective tissue diseases. ... Connective tissue is the sustaining tissue of all organs. For this reason, hereditary connective tissue diseases can manifest ... Rare Diseases. Exome Diagnostics. Blood Disorders. Cardiac Diseases. Ciliopathies. Connective Tissue Diseases. Epilepsy & Brain ... Since hereditary connective tissue diseases are often difficult to distinguish phenotypically, the gene set for connective ...
  • Ehlers-Danlos syndromes - a heterogeneous group of disorders characterized by connective tissue fragility. (wikipedia.org)
  • Due to modifications to the 2017 hEDS diagnostic criteria, joint hypermobility (and associated joint complications) without other signs of a hereditary connective tissue disorder now classifies for a diagnosis of one of the hypermobility spectrum disorders. (wikipedia.org)
  • There are more than 200 of these conditions, including genetic disorders such as Ehlers-Danlos syndrome, autoimmune disorders such as scleroderma , and cancers such as soft tissue sarcomas . (medicalnewstoday.com)
  • Microvascular filtration in subjects with connective tissue disorders. (bmj.com)
  • Rates of filtration under a standard hydrostatic pressure were measured in 20 normal female subjects and 44 female subjects with connective tissue disorders. (bmj.com)
  • The interstitial lung diseases (ILD) are a group of diffuse parenchymal lung disorders associated with substantial morbidity and mortality. (jrheum.org)
  • Overview and Evaluation of Hand Disorders Common hand disorders include a variety of deformities, ganglia, infections, Kienböck disease, nerve compression syndromes, noninfectious tenosynovitis, and osteoarthritis. (msdmanuals.com)
  • Some signs, such as red skin at the base of the nails, can signify connective tissue disorders. (wikidoc.org)
  • Connective tissue diseases are disorders featuring abnormalities involving the collagen and elastin. (orthopedicshealth.com)
  • These diseases are a group of disorders that affect the body's connective tissues, such as the joints, muscles, and skin. (premiumswitzerland.com)
  • A rheumatologist, a doctor who specializes in rheumatic and autoimmune diseases, is commonly considered the expert in these disorders and is likely to perform a complete physical examination, keeping an eye out for swollen hands and painful, swollen joints as well as carefully listening and noting other symptoms the patient may be experiencing. (understandingmyositis.org)
  • abstract = "Tissue-specific extracellular matrices (ECMs) are crucial for normal development and tissue function, and mutations in ECM genes result in a wide range of serious inherited connective tissue disorders. (manchester.ac.uk)
  • The NHLBI leads or sponsors studies for patients who have heart, lung, blood, or sleep related diseases or disorders. (nih.gov)
  • Some medical conditions, particularly fractures, lacerations, costoclavicular syndrome, connective tissue diseases, vascular disorders such as Buerger's disease, generalized atherosclerosis, or a long history of high blood pressure, may result in the same signs and symptoms as primary Raynaud's phenomenon. (cdc.gov)
  • At Spire Hartswood Hospital, I see patients with the full spectrum of rheumatic conditions including inflammatory arthritis such as rheumatoid, systemic rheumatic diseases such as lupus, metabolic bone diseases such as osteoporosis, non inflammatory conditions such as osteoarthritis, fibromyalgia and work related disorders. (spirehealthcare.com)
  • Mixed connective tissue disease (MCTD) is a rare autoimmune disorder. (healthline.com)
  • MCTD occurs when your immune system attacks the connective tissue that provides the framework for the organs of your body. (healthline.com)
  • MCTD is an autoimmune disease which occurs when a person's immune system decides to ramp up and fight against the enemy…YOU. (mctdfoundation.org)
  • Although MCTD is not listed as an heritable disease of connective tissue, there is an association of the histocompatibility complex called HLA (DR4 and DR2 for MCTD) to link family members to similar autoimmune diseases. (mctdfoundation.org)
  • If you are on Facebook, please join us at MCTD-Mixed Connective Tissue Disease (closed group) where you can ask any question in private and have any number of people around the world answering your questions at any hour of the day or night with their own personal experience. (mctdfoundation.org)
  • Evaluation of interstitial lung disease in mixed connective tissue disease (MCTD). (medscape.com)
  • Mixed Connective Tissue Disease (MCTD) is a rare autoimmune disease that affects multiple organs and tissues in the body. (sicknotdead.com)
  • Patients with MCTD typically experience features of each of these three diseases. (understandingmyositis.org)
  • Some people have a family history of connective tissue or other related autoimmune diseases, but any genes associated with MCTD have yet to be identified. (understandingmyositis.org)
  • But why is it called undifferentiated connective tissue disease? (no-carb-diet.com)
  • If a person has symptoms of more than one of these conditions, they may have mixed connective tissue disease. (medicalnewstoday.com)
  • The diversity of signs and symptoms frequently complicates the diagnosis of a rheumatic disease. (medscape.com)
  • Unclassifiable symptoms, physical examination findings, or serological results suggestive of a CTD frequently lead to diagnoses such as incomplete lupus, latent lupus, overlap syndrome, and undifferentiated connective-tissue disease (UCTD). (medscape.com)
  • ICD-9-CM codes are used in medical billing and coding to describe diseases, injuries, symptoms and conditions. (icd9data.com)
  • This implies that the characteristic features that are used to define the classic connective tissue disease are not present, but some symptoms or signs of connective disease exist. (orthopedicshealth.com)
  • What are the symptoms for connective tissue disease? (orthopedicshealth.com)
  • Two additional diseases, Rheumatoid Arthritis and Sjogren's Disease, may also contribute their symptoms to the overall clinical picture. (mctdfoundation.org)
  • Undifferentiated connective tissue diseases (UCTDs) are clinical entities characterised by signs and symptoms suggestive of a systemic autoimmune disease, which do not fulfil the diagnostic criteria for a defined connective tissue disease. (lookformedical.com)
  • How undifferentiated connective tissue disease (UCTD) is diagnosed through its symptoms, family history, physical examination, x-rays, and CT scans. (lookformedical.com)
  • What are signs and symptoms of mixed connective tissue disease? (digestivetracthealth.com)
  • The signs and symptoms of mixed connective tissue disease vary greatly from one individual affected to another. (digestivetracthealth.com)
  • The treatment options for connective tissue diseases vary depending on the specific disease and the severity of the symptoms. (premiumswitzerland.com)
  • In some cases, medication is used to manage the symptoms and slow the progression of the disease. (premiumswitzerland.com)
  • When a combination of symptoms of certain multiple autoimmune diseases occurs, it is referred to as a connective tissue disorder or "overlap disease. (understandingmyositis.org)
  • However, when it occurs in the context of connective tissue disease, particularly systemic lupus erythematosus (SLE), it is usually associated with a flare-up of the patient's symptoms, requiring treatment, and can lead to severe, potentially life-threatening sequelae. (springeropen.com)
  • In autoimmune connective tissue diseases, the immune system attacks healthy connective tissue, causing inflammation and damage. (medicalnewstoday.com)
  • Autoimmune connective tissue diseases, or ACTD, are a group of diseases having the common symptom of itching. (integrativetelemedicine.com)
  • The different types of autoimmune connective tissue diseases are discussed below. (integrativetelemedicine.com)
  • In our review of the literature, we found 55 cases of Kikuchi-Fujimoto disease occurring in the context of definite connective tissue disease, 50 of which were associated with SLE. (springeropen.com)
  • These are also referred to as systemic autoimmune diseases. (wikipedia.org)
  • The classic collagen vascular diseases include: Systemic lupus erythematosus (SLE) - An inflammation of the connective tissues, SLE can afflict every organ system. (wikipedia.org)
  • We studied 28 consecutive patients with idiopathic interstitial pneumonia (IIP) enrolled in the University of California, San Francisco Interstitial Lung Disease Center who met prespecified criteria for UCTD, as follows: at least one clinical manifestation of connective tissue disease, serologic evidence of systemic inflammation in the absence of clinical infection, and absence of sufficient American College of Rheumatology criteria for another connective tissue disease. (nih.gov)
  • Mixed connective tissue disease, as first described in 1972, is "classically" considered as an "overlap" of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis. (orthopedicshealth.com)
  • Neuropsychological assessment in mixed connective tissue disease: comparison with systemic lupus erythematosus. (medscape.com)
  • Association of systemic and thyroid autoimmune diseases. (medscape.com)
  • If systemic lupus erythematosus prevails, there may be chest pain with breathing, kidney disease, and/or arthritis of the joints. (digestivetracthealth.com)
  • Mixed connective tissue disease is classified and considered as an "overlap" of three diseases, Systemic Lupus Erythematosus, Scleroderma, and Polymyositis. (understandingmyositis.org)
  • 1989 ). An association between a Kikuchi-like lymphadenitis and autoimmune disease, particularly systemic lupus erythematosus (SLE), has been noted. (springeropen.com)
  • The impact of this health emergency is particularly relevant in the rare connective tissue diseases (rCTDs) communities, as discussed in this Perspective article by the multi-stakeholder European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases (ERN ReCONNET). (uni-koeln.de)
  • The added value of a European Reference Network on rare and complex connective tissue and musculoskeletal diseases: insights after the first 5 years of the ERN ReCONNET. (ox.ac.uk)
  • It's an autoimmune disorder , meaning it involves your immune system mistakenly attacking healthy tissue. (healthline.com)
  • Pruritus or autoimmune itching can have different amounts of severity and may occur despite not having an autoimmune connective tissue disorder. (integrativetelemedicine.com)
  • Marfan's syndrome is an inherited disorder involving the body's connective tissues. (carle.org)
  • Comorbidity refers to a long-term health condition or disorder that coexists with a primary disease (1), and multimorbidity refers to the presence of 2 long-term health conditions (2). (who.int)
  • Marfan syndrome - a genetic disease causing abnormal fibrillin. (wikipedia.org)
  • Genetic factors may create a predisposition towards developing these autoimmune diseases. (wikipedia.org)
  • Sometimes, a gene may change during or after pregnancy, resulting in a child having a sporadic genetic connective tissue disease when no family history of the condition exists. (medicalnewstoday.com)
  • Currently, patients with autoimmune disease are believed to have a genetic predisposition. (medscape.com)
  • According to the Genetic and Rare Diseases Information Center (GARD), women are three times more likely than men to develop the condition. (healthline.com)
  • Diseases of connective tissue that are strictly inheritable (due to genetic inheritance) include Marfan syndrome (can have tissue abnormalities in the heart, aorta, lungs, eyes, and skeleton) and Ehlers-Danlos syndrome (may have loose, fragile skin or loose [hyperextensible] joints). (orthopedicshealth.com)
  • The disease may be an autoimmune disease, in which the body defends itself against something, or it may be more of a genetic disease, in which the body has a genetic defect that leads to an autoimmune disease. (no-carb-diet.com)
  • It's found primarily in people with European ancestry, and it's considered a genetic disease. (no-carb-diet.com)
  • As with other autoimmune diseases, it is thought that there may be a genetic component which is triggered by an environmental event such as a virus, trauma, drugs, or a myriad of other possible causes. (understandingmyositis.org)
  • Infiltrative diseases such as sarcoidosis or amyloidosis, and rare genetic diseases such as Wilson disease, primary hemochromatosis, and alpha-1-antitrypsin deficiency, must be excluded. (cdc.gov)
  • In order to fulfill the criteria for UCTD, antinuclear antibodies must be present, along with a disease duration of at least 3 years. (medscape.com)
  • If the disease duration is less than 3 years, patients may be defined as having an early UCTD. (medscape.com)
  • Although the cause of UCTD is not known, we do know that UCTD is an autoimmune disease. (nationaljewish.org)
  • We hypothesized that idiopathic NSIP is an autoimmune disease and the lung manifestation of undifferentiated connective tissue disease (UCTD), a recently described, distinct entity. (nih.gov)
  • A new study by researchers at Hospital for Special Surgery (HSS) has further clarified the clinical manifestations of undifferentiated connective tissue disease (UCTD). (news-medical.net)
  • UCTD is inherently challenging to define, but it's very important to understand what features differentiate patients with UCTD from those with defined connective tissue diseases (CTD) such as lupus so that we can better manage patients with this condition and ultimately predict who may go on to develop more severe clinical manifestations. (news-medical.net)
  • The results reveal that even among patients diagnosed by their treating physician with UCTD, some may meet classification criteria for other rheumatic diseases. (news-medical.net)
  • These findings lend support to the claim that patients who have UCTD require separate study, and their disease manifestations warrant further understanding. (news-medical.net)
  • Update) Donna C: Undifferentiated Connective Tissue Disease (UCTD) For the most part I have still been doing very good. (lookformedical.com)
  • OBJECTIVE: The purpose of this study was to evaluate pregnancy outcome in a cohort of patients with newly diagnosed undifferentiated connective tissue disease (UCTD). (unipv.it)
  • Connective-tissue diseases (CTDs) manifest with a wide range of clinical findings and laboratory abnormalities. (medscape.com)
  • Connective tissue diseases (CTDs) are associated with several interstitial lung diseases. (nih.gov)
  • There are many different types of collagen protein in each of the body's tissues. (wikipedia.org)
  • I do a weekly connective tissue disease clinic in Basildon, in addition to combined rheumatology/ orthopaedics and paediatrics/rheumatology clinics. (spirehealthcare.com)
  • However, each of these diseases can evolve slowly or rapidly from very subtle abnormalities before demonstrating the classic features that help in the diagnosis. (wikipedia.org)
  • They may also order tests to look for the presence of antibodies more closely associated with other autoimmune diseases to ensure an accurate diagnosis and/or confirm an overlap syndrome. (healthline.com)
  • Diagnosis of mixed connective tissue disease is supported by detecting abnormal antibodies in the blood. (orthopedicshealth.com)
  • Ortega-Hernandez OD, Shoenfeld Y. Mixed connective tissue disease: An overview of clinical manifestations, diagnosis and treatment. (medscape.com)
  • Kikuchi-Fujimoto disease is a histopathological diagnosis, and although the classical form appears to represent a distinct entity, it is unclear whether it is always the same entity, regardless of the context in which it occurs, or whether it represents a histological pattern with a variety of possible causes. (springeropen.com)
  • However, she had an autoantibody profile which included a positive ANF with a speckled pattern, positive anti-La and positive RNP, and mixed connective tissue disease was eventually considered to be the most likely diagnosis. (springeropen.com)
  • These tissues form a framework, or matrix, for the body, and are composed of two major structural protein molecules: collagen and elastin. (wikipedia.org)
  • In patients with connective tissue disease, it is common for collagen and elastin to become injured by inflammation (ICT). (wikipedia.org)
  • Diseases in which inflammation or weakness of collagen tends to occur are also referred to as collagen diseases. (wikipedia.org)
  • Collagen vascular diseases can be (but are not necessarily) associated with collagen and blood vessel abnormalities that are autoimmune in nature. (wikipedia.org)
  • Most, but not all, are due to a defect in the synthesis of collagen (Type I or III) and cause progressive deterioration of collagen, with different EDS types affecting different sites in the body, such as joints, heart valves, organ walls, arterial walls (due to where the affected connective tissue component is found throughout the body). (wikipedia.org)
  • Osteogenesis imperfecta (brittle bone disease) - caused by poor quality collagen, or insufficient amounts of normal collagen (primarily type I), necessary for healthy, strong bones and certain other connective tissues. (wikipedia.org)
  • Alport syndrome - defects in collagen (type IV), found in the renal basement membrane, inner ear and eyes, leading to glomerulonephritis, hearing loss, and eye disease, respectively. (wikipedia.org)
  • The classic collagen vascular diseases have a "classic" presentation with typical findings that doctors can recognize during an examination. (wikipedia.org)
  • It consists of a variety of proteins, such as collagen and elastin, which give the tissue its strength and flexibility. (medicalnewstoday.com)
  • Are they of value in immunologically-mediated collagen vascular disease? (aad.org)
  • The incubation of DSS fibroblasts with a synthetic cannabinoid receptor agonist (WIN55, 212- 2) decreased their expression in a dose-dependent manner, together with a parallel reduction in collagen production and pro- fibrotic cytokines, including transforming growth factor-beta (TGF-beta), connective tissue growth factor and interleukin-6 (IL-6). (aad.org)
  • Collagen vascular disease is a somewhat antiquated term used to describe diseases of the connective tissues that typically include diseases which can be (but are not necessarily) associated with blood vessel abnormalities. (wikidoc.org)
  • Osteogenesis imperfecta (brittle bone disease) - caused by insufficient production of good quality collagen to produce healthy, strong bones. (wikidoc.org)
  • The connective tissues are composed of two major structural molecules, collagen and elastin. (orthopedicshealth.com)
  • There are many different collagen proteins that vary in amount in each tissue of the body. (orthopedicshealth.com)
  • Connective tissues comprise proteins like collagen and elastin and also contain some white blood cells or mast cells. (integrativetelemedicine.com)
  • The evidence for an autoimmune etiology includes pathological findings of infiltrating T cells, the presence of antigen-antibody complexes in affected cartilage, cellular and humoral responses against collagen type II and other collagen antigens, and the observation that immunosuppressive regimens most often suppress the disease. (medscape.com)
  • The autoimmune disease that leads to the inflammation of the membranes of the joints is known as Rheumatoid arthritis. (integrativetelemedicine.com)
  • Sjogren's Syndrome is a chronic disease of the connective tissues that occurs in 31% of people with rheumatoid arthritis. (integrativetelemedicine.com)
  • Connective tissue is any type of biological tissue with an extensive extracellular matrix that supports, binds together, and protects organs. (wikipedia.org)
  • Scleroderma - an activation of immune cells that produces scar tissue in the skin, internal organs, and small blood vessels. (wikipedia.org)
  • Connective tissue provides the framework and support for tissues throughout the body, including bones, muscles, blood vessels, and organs. (medicalnewstoday.com)
  • Since this disease can affect various organs such as skin, muscle, the digestive system and lungs, as well as your joints, treatment is targeted to manage the major areas of involvement. (healthline.com)
  • As the immune system attacks these tissues, they become inflamed causing soreness, pain and in some instances damage to the organs. (mctdfoundation.org)
  • Vasculitis does not only damage the skin but can also affect organs like the kidneys or the heart when the disease gets serious. (integrativetelemedicine.com)
  • Kienböck disease occurs most commonly in the dominant hand of men aged 20 to 45, usually in workers doing heavy manual labor. (msdmanuals.com)
  • Release of damaged cells and tissue debris occurs upon injury. (medscape.com)
  • The disease occurs in tropical and subtropical environments characterized by short rainy seasons and prolonged dry seasons that favour the growth of thorny bushes. (who.int)
  • Given its slow progression, painless nature, ignorance about the disease and its causes, and scarcity of medical and health facilities in the areas where it occurs, many patients present late with advanced disease, when amputation may be the only available treatment. (who.int)
  • A connective tissue disease (collagenosis) is any disease that has the connective tissues of the body as a target of pathology. (wikipedia.org)
  • A connective tissue disease is any disease that has the connective tissues of the body as a primary target of pathology. (wikidoc.org)
  • There is no cure for EDS, so treatment aims to prevent disease progression and complications. (medicalnewstoday.com)
  • Keep in mind that of all the people diagnosed with this disease, 13% may develop severe complications in 6-12 years. (mctdfoundation.org)
  • Since connective tissues are in all parts of the body, the disease can have many complications, however, the most prevalent, and of utmost concern, is the potential for lung disease. (understandingmyositis.org)
  • Interstitial lung disease (ILD) is one of the most serious lung complications of connective tissue disease (CTD). (bvsalud.org)
  • Sometimes, a person's immune system attacks their healthy cells and tissues. (medicalnewstoday.com)
  • In this autoimmune disease, the immune system attacks fluid-producing areas of the body, such as the tear ducts, and salivary glands. (integrativetelemedicine.com)
  • Connective tissue is the fibrous tissue that makes up the framework of your body. (mctdfoundation.org)
  • This type of connective tissue is used for blood vessels, nerves, lymphatic system, and so on. (no-carb-diet.com)
  • Scleroderma is a group of diseases in which the skin hardens and causes issues in the blood vessels or digestive tract. (integrativetelemedicine.com)
  • Vasculitis is an autoimmune disease of the connective tissues, and inflammation of the blood vessels characterizes the disease. (integrativetelemedicine.com)
  • Itching is medically known as pruritus, and autoimmune itching due to connective tissue disease is painful and can have a massive impact on a patient's life. (integrativetelemedicine.com)
  • Ingegnoli F, Zeni S, Gerloni V, Fantini F. Capillaroscopic observations in childhood rheumatic diseases and healthy controls. (medscape.com)
  • CPFE warrants inclusion as a novel, distinct pulmonary manifestation within the spectrum of CTD-associated lung diseases in smokers or former smokers, especially in patients with RA or SSc. (nih.gov)
  • Idiopathic nonspecific interstitial pneumonia: lung manifestation of undifferentiated connective tissue disease? (nih.gov)
  • ILD may arise as a result of a specific occupational or environmental exposure or as a manifestation of underlying connective tissue disease (CTD). (jrheum.org)
  • From BioPortfolio: Interstitial lung disease (ILD) is a major pulmonary manifestation of connective tissue disease (CTD), leading to significant morbidity and mortality. (lookformedical.com)
  • Connective tissues are the framework of the cells of the body. (orthopedicshealth.com)
  • These tissues form a framework or matrix for the body. (orthopedicshealth.com)
  • For this reason, ERNs were established as concrete European infrastructures, and this is particularly crucial in the framework of rare and complex diseases in which no country alone has the whole knowledge and capacity to treat all types of patients.It has been five years since their kick-off launch in Vilnius in 2017. (ox.ac.uk)
  • Marfan syndrome arises from a change in a gene that codes for the protein fibrillin, which is a key component of connective tissue. (medicalnewstoday.com)
  • Sjögren's syndrome - also called Sjögren's disease, is a chronic, slowly progressing inability to secrete saliva and tears. (wikidoc.org)
  • Mixed connective tissue disease--an apparently distinct rheumatic disease syndrome associated with a specific antibody to an extractable nuclear antigen (ENA). (medscape.com)
  • Here, we report and compare two cases of unclassifiable connective tissue disease who developed a Kikuchi-like lymphadenitis and sepsis-like clinical syndrome, including disseminated intravascular coagulation, which proved rapidly fatal. (springeropen.com)
  • In any case, the possibility of auto-immune sequelae in patients with known autoimmune disease should always be considered if these patients present with a sepsis-like clinical syndrome and no infective source is identified. (springeropen.com)
  • Elastin is the major component of ligaments (tissues that attach bone to bone) and skin. (wikipedia.org)
  • Kienböck disease is avascular necrosis of the lunate bone. (msdmanuals.com)
  • Treatment references Kienböck disease is avascular necrosis of the lunate bone. (msdmanuals.com)
  • Long-term clinical and radiological outcomes of radial shortening osteotomy and vascularized bone graft in Kienböck disease. (msdmanuals.com)
  • These changes can lead to severe bone disease in persons suffering from renal failure, because bone calcium is depleted and the calcium stores are not adequately replenished. (britannica.com)
  • Mycetoma is a chronic, progressively destructive inflammatory disease of the skin, subcutaneous and connective tissue, muscle and bone. (who.int)
  • Furthermore, these results show that the clinical entity idiopathic NSIP is different from idiopathic pulmonary fibrosis and appears to be an autoimmune disease. (nih.gov)
  • 1745 patients with idiopathic PAH (IPAH), drug-induced PAH (DPAH), heritable PAH (HPAH) (collectively "(I/D/H)PAH"), or connective tissue disease-associated PAH (CTD-PAH), who had completed emPHasis-10 questionnaires at one of six UK referral centres between 2014 and 2017, were identified. (ersjournals.com)
  • 143 disease terms (MeSH) has been reported with CBS gene. (cdc.gov)
  • Genes tell the body how to make proteins, including the ones that make up connective tissue. (medicalnewstoday.com)
  • This study aims to learn more about the impact of changes in connective tissue genes on an individual's overall health. (nih.gov)
  • Proteomics: Potential techniques for discovering the pathogenesis of connective tissue diseases-interstitial lung disease. (bvsalud.org)
  • The specificity of autoimmune injury to cartilaginous tissues has led investigators to test the hypothesis that a cartilage-specific autoantibody is central to the pathogenesis of relapsing polychondritis. (medscape.com)
  • Centers for Disease Control and Prevention. (cdc.gov)
  • The Centers for Disease Control and Prevention (CDC) cannot attest to the accuracy of a non-federal website. (cdc.gov)
  • Centers for Disease Control and Prevention, U.S. Department of Health and Human Services, Atlanta, GA, 2009: 49pp. (cdc.gov)
  • The findings and conclusions in this report are those of the authors and do not necessarily represent the official position of the Centers for Disease Control and Prevention. (cdc.gov)
  • These exposure levels put workers, particularly sand mover operators and T-belt operators who had the highest levels, at risk of silicosis and the other silica-related conditions of lung cancer, end-stage renal disease, chronic obstructive pulmonary disease, tuberculosis, and connective tissue disease. (cdc.gov)
  • Perform serologic testing to exclude connective-tissue disease. (medscape.com)
  • Some of these disease criteria overlap, further complicating the diagnostic workup in patients with a potential CTD. (medscape.com)
  • First-line agents such as nonsteroidal anti-inflammatory agents can be used initially, but some patients may require more advanced treatment with the antimalarial drug hydroxychloroquine ( Plaquenil ) or other disease-modifying agents and biologics. (healthline.com)
  • Despite the availability of specific therapies targeting multiple pathways involved in the development and progression of pulmonary arterial hypertension (PAH), and the improved survival observed in PAH patients in recent years, it remains a progressive, devastating disease [ 1 ]. (ersjournals.com)
  • Some encouraging evidence regarding the use of upfront triple-combination therapy in the management of patients with advanced disease has been previously reported [ 2 ]. (ersjournals.com)
  • It provides key insights into the management of patients presenting with severe disease, with particular focus on their treatment with multiple PAH-specific therapies. (ersjournals.com)
  • Some disease subgroups may respond better than others, however, more work is needed to define its role in managing these patients. (bris.ac.uk)
  • Patients with this pattern illness have features of each of these three diseases. (orthopedicshealth.com)
  • Depression and anxiety and their association with healthcare utilization in pediatric lupus and mixed connective tissue disease patients: a cross-sectional study. (medscape.com)
  • Clinicians that care for these patients will benefit from a deeper understanding of CTD and the ILD aspects of this diverse spectrum of disease. (lookformedical.com)
  • Overall, Swiss clinics offer world-class care for patients with connective tissue diseases. (premiumswitzerland.com)
  • With their multidisciplinary approach, advanced technology, and supportive services, patients can receive the comprehensive care they need to manage their disease and live a fulfilling life. (premiumswitzerland.com)
  • True mixed connective tissue disease is diagnosed when patients demonstrate the clinical features (exam findings) of overlap illnesses and have high amounts of the antibodies ANA and anti-RNP in their blood. (understandingmyositis.org)
  • Here, we compare and contrast two cases of patients with longstanding connective tissue disease which proved hard to classify, both of whom developed a fatal Kikuchi-like lymphadenitis. (springeropen.com)
  • Comorbidity is common among older cancer patients, and 4 out of 10 cancer patients have at least one comorbid disease and 15% have multimorbidity (3). (who.int)
  • The antifetal cartilage antibodies were found in 6 of 9 patients and only 4 (1.5%) of 260 patients with RA, exclusively in long-standing disease. (medscape.com)
  • Comparison of Characteristics of Connective Tissue Disease-Associated Interstitial Lung Diseases, Undifferentiated Connective. (lookformedical.com)
  • Some connective tissue diseases such as lupus erythematosus are associated with a specific type of hepatitis. (cdc.gov)
  • In 1980, LeRoy et al proposed the concept of undifferentiated connective-tissue syndromes (UCTS) to characterize mixed or overlapping syndromes. (medscape.com)
  • It is now known that overlap syndromes can occur that involve any combination of the connective tissue diseases. (orthopedicshealth.com)
  • Kikuchi-Fujimoto disease, is usually a benign self-limiting disease which typically affects young females under the age of 30 years and resolves without treatment within six months. (springeropen.com)
  • The disease commonly affects young adults, particularly men aged between 20 and 40 years.2 Infection is thought to be acquired by traumatic inoculation of fungi or bacteria into the subcutaneous tissue following minor trauma or a penetrating injury, commonly thorn pricks. (who.int)
  • Some of the most common connective tissue diseases include Lupus, Polymyalgia rheumatica, Sarcoidosis, and Vasculitis. (premiumswitzerland.com)
  • Inherited connective tissue diseases occur as a result of genetics. (medicalnewstoday.com)
  • These connective tissue diseases occur for unknown reasons. (orthopedicshealth.com)
  • These may occur due to genetics, environmental factors, or be an autoimmune disease, in which antibodies that usually protect the body against infection, attack themselves. (integrativetelemedicine.com)
  • Although the disease course is normally self-limiting, fatal cases are known to occur, with a reported fatality rate of 2.1% (Kucukardali et al. (springeropen.com)
  • If a person inherits a gene that tells their body to make these proteins in an atypical way, the person may have a connective tissue disease from birth. (medicalnewstoday.com)
  • Because undifferentiated connective tissue disease is so common, people can often get it by eating foods (including some grains) with gluten and other proteins. (no-carb-diet.com)
  • The disease is commonly known as "Madura foot" after the description of a case reported in the mid-19th century in the Indian town of Madura. (who.int)
  • They noted that, after a few episodes of inflammation, the cartilage was replaced by fibrous connective tissue. (medscape.com)