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.
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.
An idiopathic vascular disorder characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or CYANOSIS in response to cold exposure or stress.
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.
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.
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.
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.
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.
Antibodies that react with self-antigens (AUTOANTIGENS) of the organism that produced them.
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)
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.
Tissue that supports and binds other tissues. It consists of CONNECTIVE TISSUE CELLS embedded in a large amount of EXTRACELLULAR MATRIX.
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.
Disorders of connective tissue, especially the joints and related structures, characterized by inflammation, degeneration, or metabolic derangement.
Endogenous tissue constituents that have the ability to interact with AUTOANTIBODIES and cause an immune response.
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).
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.
Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue.
Complexes of RNA-binding proteins with ribonucleic acids (RNA).
Increased VASCULAR RESISTANCE in the PULMONARY CIRCULATION, usually secondary to HEART DISEASES or LUNG DISEASES.
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 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)
Disorders that are characterized by the production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides.
An HLA-DR antigen which is associated with HLA-DRB1 CHAINS encoded by DRB1*04 alleles.
A mixed mesenchymal tumor composed of two or more mesodermal cellular elements not commonly associated, not counting fibrous tissue as one of the elements. Mesenchymomas are widely distributed in the body and about 75% are malignant. (Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1866)
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 PREDNISOLONE derivative with similar anti-inflammatory action.
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.
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.
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 collective term for diseases of the skin and its appendages and of connective tissue.
The major immunoglobulin isotype class in normal human serum. There are several isotype subclasses of IgG, for example, IgG1, IgG2A, and IgG2B.
Disorder caused by an interruption of the mineralization of organic bone matrix leading to bone softening, bone pain, and weakness. It is the adult form of rickets resulting from disruption of VITAMIN D; PHOSPHORUS; or CALCIUM homeostasis.
Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)
A continuing periodic change in displacement with respect to a fixed reference. (McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed)
An occupational disorder resulting from prolonged exposure to vibration, affecting the fingers, hands, and forearms. It occurs in workers who regularly use vibrating tools such as jackhammers, power chain saws, riveters, etc. Symptoms include episodic finger blanching, NUMBNESS, tingling, and loss of nerve sensitivity.
Four or five slender jointed digits in humans and primates, attached to each HAND.
An institute of the CENTERS FOR DISEASE CONTROL AND PREVENTION which is responsible for assuring safe and healthful working conditions and for developing standards of safety and health. Research activities are carried out pertinent to these goals.
Accidentally acquired infection in laboratory workers.
Diseases caused by factors involved in one's employment.

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. (1/157)

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)

Long-term outcome in mixed connective tissue disease: longitudinal clinical and serologic findings. (2/157)

OBJECTIVE: To determine the long-term clinical and immunologic outcomes in a well-characterized cohort of 47 patients with mixed connective tissue disease (MCTD), including reactivity with U small nuclear RNP (snRNP) polypeptides. METHODS: Patients were followed up over a period of 3-29 years with immunogenetic and systematic clinical and serologic analysis. Sera were analyzed for reactivity with snRNP polypeptides U1-70 kd, A, C, B/B', and D, for anti-U1 RNA, and for anticardiolipin antibodies (aCL). RESULTS: The typical core clinical features of MCTD tended to develop over time; features of inflammation as well as Raynaud's phenomenon and esophageal hypomotility diminished, while pulmonary hypertension, pulmonary dysfunction, and central nervous system disease persisted, following treatment. A favorable outcome was observed in 62% of patients; 38% had continued active disease or had died, with death associated with pulmonary hypertension and aCL. All patients had autoantibodies to the U1-70 kd polypeptide of snRNP, and most were positive for anti-U1 RNA. An orderly progression of intramolecular spreading of autoantibody reactivity against snRNP polypeptides was observed, as was the novel finding of "epitope contraction" followed by disappearance of anti-snRNP autoantibodies during prolonged remission. CONCLUSION: These patients demonstrated the typical immunogenetic, clinical, and serologic findings of MCTD, and the condition rarely evolved into systemic lupus erythematosus or systemic sclerosis. The majority of patients had favorable outcomes, with pulmonary hypertension being the most frequent disease-associated cause of death. Intramolecular spreading of autoantibody reactivity against snRNP polypeptides was observed, followed by "epitope contraction" and ultimate disappearance of anti-snRNP autoantibodies during prolonged disease remission.  (+info)

Mixed connective tissue disease: a disease entity? (3/157)

OBJECTIVE: To explicate whether mixed connective tissue disease (MCTD) is a distinct disease and evaluate the reliability of three different diagnostic criteria proposed by Sharp, Alarcon-Segovia and Kasukawa respectively. METHODS: Clinical follow-up of 50 MCTD patients lasted 2-8 years (80% > 5 years). HLA-A, -B as well as -DR typing was performed by complemently dependent cytotocity assay. Autoantibody profile was detected by counterimmune electrophoresis (CIE). RESULTS: Thirteen (26.0%) of the 50 MCTD patients subsequently developed other connective tissue disease (OCTD), including 7 systemic lupus erythematosis (SLE), and 6 progressive systemic scleroderma (PSS). Among 23 of the MCTD patients fulfilling Sharp's criteria, 1 (4.3%) developed PSS, but among 23 of the patients fulfilling Kasukawa's, not Sharp's, 7 (30.4%) developed OCTD and among 27 of the patients fulfilling Alarcon-Segovia's, not Sharp's, 12 (44.4%) developed OCTD. In the frequencies of DR4 and DR5, there were significant differences between patients fulfilling Sharp's (60.9%, 56.5%) and controls (24.3%, P < 0.005, RR = 4.7 and 21.4%, P < 0.005, RR = 4.6%), but there were no significant differences between the patients not fulfilling Sharp's and normal control (P > 0.05). CONCLUSIONS: MCTD is a distict rheumatic disease. Sharp's criteria is the most reliable for diagnosis of MCTD.  (+info)

Autoantibodies to the extracellular matrix microfibrillar protein, fibrillin-1, in patients with scleroderma and other connective tissue diseases. (4/157)

A duplication in the fibrillin-1 gene has been implicated as the cause of the tight skin 1 (tsk1) phenotype, an animal model of scleroderma or systemic sclerosis (SSc). In addition to the production of abnormal fibrillin-1 protein, the tsk1 mouse also produces autoantibodies to fibrillin-1. Among a population of Choctaw Native Americans with the highest prevalence of SSc yet described, a chromosome 15q haplotype containing the fibrillin-1 gene has been strongly associated with SSc. With a recombinant human fibrillin-1 protein, autoantibodies to fibrillin-1 were detected in the sera of Native American SSc patients that correlated significantly with disease. Abs to fibrillin-1 also were detected in sera from Japanese, Caucasian, and African-American SSc patients. Compared with other ethnic groups, Japanese and Native American SSc patients had significantly higher frequencies of anti-fibrillin-1 Abs. Sera from patients with diffuse SSc, calcinosis, Raynaud's, esophageal dysmotility, sclerodactyly, and telangiectasias syndrome and mixed connective tissue disease also had significantly higher frequencies of anti-fibrillin-1 Abs than sera from controls or patients with other non-SSc connective tissue diseases (lupus, rheumatoid arthritis, and Sjogren's syndrome). Ab specificity for fibrillin-1 was demonstrated by the lack of binding to a panel of other purified autoantigens. The results presented demonstrate for the first time the presence of high levels of anti-fibrillin-1 Abs in a significant portion of patients with SSc.  (+info)

Mixed connective tissue disease. (5/157)

Mixed connective tissue disease deserves to be a distinct disease entity due to the persistent citation of this disease in the literature since the original description by Sharp in 1972, in spite of the presence of several criticisms against the independency of this disease. The characteristic features of mixed connective tissue disease are: 1) the presence of anti-U1snRNP antibody with high titers in sera, 2) an increased frequency of HLA-DR4 in the leukocytes, and 3) death due to pulmonary hypertension.  (+info)

A case of Graves' disease associated with autoimmune hepatitis and mixed connective tissue disease. (6/157)

The patient was a woman of forty-eight. Liver dysfunction was pointed out at the age of forty-five. She was admitted to hospital because of her hyperthyroidism. Her palmar skin was wet and her fingers were swollen like sausages. She had a diffuse and elastic hard goiter with a rough surface. The serum levels of free T3 (9.6 pg/mL) and free T4 (3.76 ng/dL) were high and that of TSH (0.11 microU/mL) was low. The activity of TSH-binding inhibitory immunoglobulin (TBII) was 89%. The uptake rate of 123I to the thyroid was 55.1% and the uptake pattern was nearly diffuse. The goiter was proved to contain several nodules by ultrasonography, but aspiration cytology showed no malignant cells. She was diagnosed to have Graves' disease with adenomatous goiter. She also had high ALT (34 IU/L) and gamma-globulin (1.97 g/dL). She had positive antinuclear antibody (speckled type), positive anti-ribosomal nuclear protein antibody, and positive LE cell phenomenon. The liver biopsy revealed mononuclear cell infiltration with fibrosis in the portal area. These data indicated that she also had autoimmune hepatitis (AIH) and mixed connective tissue disease (MCTD). The analysis of human leukocyte antigen (HLA) showed positive A11 which had been reported to relate to Graves' disease, and positive DR4 which had been reported to relate to AIH and MCTD. These results suggested that HLA would determine susceptibility to three distinct autoimmune diseases in this case.  (+info)

Klinefelter's syndrome accompanied by mixed connective tissue disease and diabetes mellitus. (7/157)

We report a rare case of Klinefelter's syndrome (KS) with mixed connective tissue disease (MCTD), diabetes mellitus (DM) and several endocrine disorders. A 57-year-old man presented with polyarthritis and tapering fingers with Raynaud's phenomenon on admission. In addition to a karyotype of 47, XXY, a marked restrictive change in respiratory functional test, a myogenic pattern in electromyogram, the positive tests for anti-RNP antibody indicated that this was a case of KS complicated with MCTD. The patients also presented DM with insulin resistance, hyperprolactinemia, slight primary hypothyroidism and hypoadrenocorticism. The mechanism for these coincidences remains to be elucidated.  (+info)

Presence of antinucleosome autoantibodies in a restricted set of connective tissue diseases: antinucleosome antibodies of the IgG3 subclass are markers of renal pathogenicity in systemic lupus erythematosus. (8/157)

OBJECTIVE: To study the frequency and disease specificity of antinucleosome antibody reactivity in diverse connective tissue diseases (CTD), and to determine factors, such as antibody subclass, that may influence the pathogenicity of these antibodies in relation to disease activity. METHODS: IgG and IgM antinucleosome activities on nucleosome core particles from 496 patients with 13 different CTD and 100 patients with hepatitis C were measured by enzyme-linked immunosorbent assay (ELISA). Of the patients with CTD, 120 had systemic lupus erythematosus (SLE), 37 had scleroderma (systemic sclerosis; SSc), 20 had mixed connective tissue disease (MCTD), and 319 had other CTD, including Sjogren's syndrome, inflammatory myopathy, rheumatoid arthritis, primary antiphospholipid syndrome, Wegener's granulomatosis, Takayasu arteritis, giant cell arteritis, relapsing polychondritis, Behcet's syndrome, and sarcoidosis. Antinucleosome-positive sera were further analyzed, by isotype-specific ELISA, for antinucleosome and anti-double-stranded DNA (anti-dsDNA) IgG subclasses. RESULTS: SLE, SSc, and MCTD were the only 3 CTD in which antinucleosome IgG were detected (71.7%, 45.9%, and 45.0% of patients, respectively). Antinucleosomes of the IgG3 subclass were present at high levels in patients with active SLE and were virtually absent in those with SSc, MCTD, or inactive SLE, and their levels showed a positive correlation with SLE disease activity. Of note, an increase in levels of antinucleosome of the IgG3 isotype was observed during SLE flares, and this increase was found to be closely associated with active nephritis. Levels of antinucleosome of the IgG1 subclass showed a trend toward an inverse correlation with SLE disease activity. No significant fluctuation in the anti-dsDNA isotype profile was observed in relation to SLE severity or clinical signs. CONCLUSION: Our data suggest that IgG antinucleosome is a new marker that may help in the differential diagnosis of CTD; antinucleosome of the IgG3 isotype might constitute a selective biologic marker of active SLE, in particular, of lupus nephritis.  (+info)

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 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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

Neoplasms of connective tissue are abnormal growths or tumors that develop from the cells that form the body's supportive framework, including bones, cartilage, tendons, ligaments, and other connective tissues. These neoplasms can be benign (non-cancerous) or malignant (cancerous), and they can cause various symptoms depending on their location and size.

There are several types of connective tissue neoplasms, including:

1. Fibroma: A benign tumor that arises from fibrous connective tissue.
2. Fibrosarcoma: A malignant tumor that develops from fibrous connective tissue.
3. Lipoma: A benign tumor that arises from fat cells.
4. Liposarcoma: A malignant tumor that develops from fat cells.
5. Chondroma: A benign tumor that arises from cartilage.
6. Chondrosarcoma: A malignant tumor that develops from cartilage.
7. Osteoma: A benign tumor that arises from bone.
8. Osteosarcoma: A malignant tumor that develops from bone.
9. Giant cell tumors: Benign or malignant tumors that contain many giant cells, which are large, multinucleated cells.
10. Synovial sarcoma: A malignant tumor that arises from the synovial tissue that lines joints and tendons.

Connective tissue neoplasms can cause various symptoms depending on their location and size. For example, a benign lipoma may cause a painless lump under the skin, while a malignant osteosarcoma may cause bone pain, swelling, and fractures. Treatment options for connective tissue neoplasms include surgery, radiation therapy, chemotherapy, or a combination of these approaches.

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.

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.

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.

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.

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.

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.

Mesenchymoma is a very rare type of tumor that contains a mixture of different types of mesenchymal tissues, such as muscle, fat, bone, cartilage, or fibrous tissue. It typically occurs in children and young adults, and can be found in various parts of the body, including the head, neck, retroperitoneum (the area behind the abdominal cavity), and the limbs.

Mesenchymomas are usually slow-growing and may not cause any symptoms until they reach a large size. Treatment typically involves surgical removal of the tumor, but radiation therapy or chemotherapy may also be used in some cases. The prognosis for mesenchymoma depends on several factors, including the location and size of the tumor, the patient's age and overall health, and the specific types of tissue that are present in the tumor.

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.

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.

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.

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.

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.

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.

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.

Osteomalacia is a medical condition characterized by the softening of bones due to defective bone mineralization, resulting from inadequate vitamin D, phosphate, or calcium. It mainly affects adults and is different from rickets, which occurs in children. The primary symptom is bone pain, but muscle weakness can also occur. Prolonged osteomalacia may lead to skeletal deformities and an increased risk of fractures. Treatment typically involves supplementation with vitamin D, calcium, and sometimes phosphate.

An encyclopedia is a comprehensive reference work containing articles on various topics, usually arranged in alphabetical order. In the context of medicine, a medical encyclopedia is a collection of articles that provide information about a wide range of medical topics, including diseases and conditions, treatments, tests, procedures, and anatomy and physiology. Medical encyclopedias may be published in print or electronic formats and are often used as a starting point for researching medical topics. They can provide reliable and accurate information on medical subjects, making them useful resources for healthcare professionals, students, and patients alike. Some well-known examples of medical encyclopedias include the Merck Manual and the Stedman's Medical Dictionary.

In the context of medicine and physiology, vibration refers to the mechanical oscillation of a physical body or substance with a periodic back-and-forth motion around an equilibrium point. This motion can be produced by external forces or internal processes within the body.

Vibration is often measured in terms of frequency (the number of cycles per second) and amplitude (the maximum displacement from the equilibrium position). In clinical settings, vibration perception tests are used to assess peripheral nerve function and diagnose conditions such as neuropathy.

Prolonged exposure to whole-body vibration or hand-transmitted vibration in certain occupational settings can also have adverse health effects, including hearing loss, musculoskeletal disorders, and vascular damage.

Hand-arm vibration syndrome (HAVS) is a disorder that affects the nerves, blood vessels, muscles, and joints of the hands and arms. It's primarily caused by prolonged exposure to high levels of hand-transmitted vibration, such as from operating power tools or machinery that vibrate.

The symptoms of HAVS can include:

1. Numbness, tingling, or loss of sensation in the fingers.
2. Fingertip color changes (blanching) when exposed to cold.
3. Impaired blood flow, leading to finger blotchiness and skin color changes.
4. Reduced hand grip strength and coordination.
5. Pain and stiffness in the hands and arms.

The symptoms can develop gradually over time and may not be immediately noticeable. Early recognition and limiting exposure to vibration sources are crucial for preventing further progression of HAVS.

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.

A Laboratory Infection, also known as a laboratory-acquired infection (LAI), is an infection that occurs in individuals who are exposed to pathogens or other harmful microorganisms while working in a laboratory setting. These infections can occur through various routes of exposure, including inhalation, skin contact, or ingestion of contaminated materials.

Laboratory infections pose significant risks to laboratory workers, researchers, and even visitors who may come into contact with infectious agents during their work or visit. To minimize these risks, laboratories follow strict biosafety protocols, including the use of personal protective equipment (PPE), proper handling and disposal of contaminated materials, and adherence to established safety guidelines.

Examples of laboratory infections include tuberculosis, salmonella, hepatitis B and C, and various other bacterial, viral, fungal, and parasitic infections. Prompt diagnosis, treatment, and implementation of appropriate infection control measures are crucial to prevent the spread of these infections within the laboratory setting and beyond.

Occupational diseases are health conditions or illnesses that occur as a result of exposure to hazards in the workplace. These hazards can include physical, chemical, and biological agents, as well as ergonomic factors and work-related psychosocial stressors. Examples of occupational diseases include respiratory illnesses caused by inhaling dust or fumes, hearing loss due to excessive noise exposure, and musculoskeletal disorders caused by repetitive movements or poor ergonomics. The development of an occupational disease is typically related to the nature of the work being performed and the conditions in which it is carried out. It's important to note that these diseases can be prevented or minimized through proper risk assessment, implementation of control measures, and adherence to safety regulations.

"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): ... Autoimmune Disorders of Connective Tissue". Merck Manual Home Health Handbook. "Mixed connective tissue disease - Symptoms and ... Connective tissue diseases, Disorders of fascia, Systemic connective tissue disorders, Autoimmune diseases). ...
Mixed connective tissue disease - a disease of the autoimmune system, also undifferentiated connective tissue disease. Systemic ... Connective tissue can be broadly classified into connective tissue proper, and special connective tissue. Connective tissue ... Other kinds of connective tissues include fibrous, elastic, and lymphoid connective tissues. Fibroareolar tissue is a mix of ... Connective tissue is one of the four primary types of animal tissue, along with epithelial tissue, muscle tissue, and nervous ...
Venables PJ (2006). "Mixed connective tissue disease". Lupus. 15 (3): 132-7. doi:10.1191/0961203306lu2283rr. PMID 16634365. ... In addition to SLE, these antibodies are highly associated with mixed connective tissue disease. Anti-nRNP antibodies recognise ... mixed connective tissue disease, polymyositis, dermatomyositis, autoimmune hepatitis and drug-induced lupus. The ANA test ... "Long-term outcome in mixed connective tissue disease: Longitudinal clinical and serologic findings". Arthritis & Rheumatism. 42 ...
"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- ... "Spontaneous self-segregation of Rad51 and Dmc1 DNA recombinases within mixed recombinase filaments". J. Biol. Chem. 293 (11): ...
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 ...
"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 ...
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 ...
Dhanawat, Aditya; Gupta, Partisha; Padhan, Prasanta (2020). "Mixed Connective Tissue Disease with Retroperitoneal Fibrosis: A ... Other associations include: connective tissue disease Riedel's thyroiditis sclerosing cholangitis[citation needed] membranous ... Retroperitoneal fibrosis or Ormond's disease is a disease featuring the proliferation of fibrous tissue in the retroperitoneum ... Many of these previously idiopathic cases can now be attributed to IgG4-related disease, an autoimmune disorder proposed in ...
Antibodies towards snRNP70 are associated with mixed connective tissue disease. GRCh38: Ensembl release 89: ENSG00000104852 - ... are associated with central neuropsychiatric manifestations in systemic lupus erythematosus and mixed connective tissue disease ... U1-70K co-localizes with Tau in neurofibrillary tangles in Alzheimer's disease. snRNP70 has been shown to interact with ASF/SF2 ... aggregate in Alzheimer's disease due to autosomal dominant genetic mutations and trisomy 21". Molecular Neurodegeneration. 9: ...
... antibodies can be elevated in mixed connective tissue disease. snRNP70 Migliorini P, Baldini C, Rocchi V, Bombardieri ...
She was diagnosed with mixed connective tissue disease when she was fifteen years old. "Chantal Molenkamp Posts Paralympic ...
"Isolated pulmonary capillaritis and diffuse alveolar hemorrhage in rheumatoid arthritis and mixed connective tissue disease". ... v t e (Articles with short description, Short description is different from Wikidata, Vascular diseases, All stub articles, ...
It is generally associated with systemic scleroderma and mixed connective tissue disease, and auto-immune disorders. ... and may involve connective tissue below the skin, as well as muscle and other tissues. Sclerodactyly is often preceded by ... early treatment while the disease is in the inflammatory stage is much more likely to be successful than on established lesions ... Localized treatment won't halt systemic disease, but can restore function and cosmetic aspects of the affected digits. The mild ...
It is described in some connective tissue diseases but never in association with mixed connective tissue disease. Skin lesion ... 2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6. Hyaluronic Acid v t e ( ... Mucinoses are a group of cutaneous diseases caused by fibroblasts producing abnormally large amounts of acid ...
Mixed connective tissue disease Notable case: A young female with a history of mixed connective tissue disease presented with ... associated with secondary pulmonary arterial hypertension in a patient with mixed connective tissue disease". Modern ... Cardiac disease: Left atrial enlargement due to valvular heart disease Notable case: A middle-aged male had ongoing cough, ... Pulmonary disease: Pathophysiology: Due to vascular congestion in the lung, the pulmonary artery (Figure 3) becomes dilated and ...
... systemic lupus erythematosus and mixed connective tissue disease. When referred to as an autoantigen, hnRNPA2B1 is also known ... HnRNPA2B1 is an autoantigen in autoimmune diseases such as rheumatoid arthritis, ... Paget's disease of bone, and ALS. Mutations in hnRNPA2B1 and hnRNPA1 cause of amyotrophic lateral sclerosis and multisystem ... "Differential distribution of heterogeneous nuclear ribonucleoproteins in rat tissues". Biochem. Biophys. Res. Commun. 217 (2): ...
"Scurfy Mice Develop Features of Connective Tissue Disease Overlap Syndrome and Mixed Connective Tissue Disease in the Absence ... Autoimmune diseases, Transcription factor deficiencies, Diseases of immune dysregulation, Syndromes affecting immunity, Rare ... Early detection of the disease is crucial because IPEX has a high mortality level if left untreated. IPEX is usually diagnosed ... Then, autoreactive CD4+T cells and inflammatory cells cause tissue damage. Scurfy mice have an enlarged spleen and lymph nodes ...
... mixed connective tissue disease, poststreptococcal glomerulonephritis, rheumatoid arthritis, and systemic sclerosis. Less ... Respiratory disease stubs, Disease stubs, Genitourinary system stubs). ... Pulmonary-renal syndromes are most commonly caused by an underlying autoimmune disease. PRS is most commonly due to ANCA- ... associated vasculitides (e.g., granulomatosis with polyangiitis) or due to anti-basement membrane diseases (e.g., Goodpasture's ...
Other differential diagnostic considerations include interstitial lung disease related to mixed connective tissue disease, ... IPF was the most common diagnosis (28%) followed by connective tissue disease-related ILD (14%), hypersensitivity pneumonitis ( ... The tissue in the lungs becomes thick and stiff, which affects the tissue that surrounds the air sacs in the lungs. Symptoms ... However, it is the belief of some researchers that the disease is a multi-mechanistic one, wherein the trigger for the disease ...
... the mixed connective-tissue disease, polymyalgia rheumatica, back pain, and the Behçet's disease also received benoxaprofen. A ... In female rats, after oral dose of 20 mg/kg, the tissue concentration of benoxaprofen was the highest in liver, kidney, lungs, ... Doube A (July 1990). "Hepatitis and non-steroidal anti-inflammatory drugs". Annals of the Rheumatic Diseases. 49 (7): 489-490. ... The photochemical character of the compound can cause inflammation and severe tissue damage. In animals, peroxisomal ...
Miura syndrome Mixed connective tissue disease Mixed Müllerian tumor Mixed receptive-expressive language disorder Mixed ... This is a list of diseases starting with the letter "M". Diseases Alphabetical list 0-9 A B C D E F G H I J K L M N O P Q R S T ... Mitochondrial diseases of nuclear origin Mitochondrial diseases, clinically undefinite Mitochondrial disease Mitochondrial ... disease Marchiafava-Micheli disease Marcus Gunn phenomenon Marden-Walker-like syndrome Marden-Walker syndrome Marek disease ...
... such as mixed connective tissue disease (MCTD) may be more likely if a single autoantibody, ribonucleic protein (RNP), is the ... 2007). "IgA anti-actin antibodies ELISA in coeliac disease: A multicentre study". Digestive and Liver Disease. 39 (9): 818-23. ... Note: the sensitivity and specificity of various autoantibodies for a particular disease is different for different diseases. ... Many autoimmune diseases (notably lupus erythematosus) are associated with such antibodies. Antibodies are produced by B cells ...
... which also appears in systemic sclerosis and mixed connective tissue disease), SS-A (or anti-Ro) and SS-B (or anti-La; both of ... ANA screening yields positive results in many connective tissue disorders and other autoimmune diseases, and may occur in ... Laboratory tests can also help distinguish between closely related connective tissue diseases. A multianalyte panel (MAP) of ... specificity in differentiating diagnosed SLE from other autoimmune connective tissue diseases. The MAP approach has been ...
Behçet's disease, Sjögren's syndrome, systemic lupus erythematosus or mixed connective tissue disease Evidence of optic ... Evidence of connective tissue disease, e.g. sarcoidosis, ... and the types of Borrelia that cause Lyme disease. Lyme disease ... Infections may cause TM through direct tissue damage or by immune-mediated infection-triggered tissue damage. The lesions ... Ford's theory of an allergic response being at the root of the disease was later shown to be only partially correct, as some ...
Multiple sclerosis (neurologic pain interpreted as muscular) Myositis Mixed connective tissue disease Lupus erythematosus ... Mixed connective tissue disease Systemic lupus erythematosus Polymyalgia rheumatica Polymyositis Dermatomyositis Multiple ... Lyme disease, malaria, trichinosis or poliomyelitis; autoimmune diseases, such as celiac disease, systemic lupus erythematosus ... Muscle pain is also a common symptom in a variety of diseases, including infectious diseases, such as influenza, muscle ...
... mixed connective tissue disease, and pyrophosphate deposition disease. It is distinct from bone erosion which is commonly ... There have also been cases of non-rheumatic JA associated with Lyme disease, HIV-infection and a number of other conditions. ... Evidence of muscle (soft tissue) atrophy also may be present. The focus of treatment is toward alleviating pain and maintaining ...
... and Mixed connective tissue disease). However, the role of these autoantibodies was not studied comprehensively. Also, some ... The disease seems to affect both males and females equally. The survival rate is heavily affected by the associated diseases, ... any autoimmune disease, and the high risk ones where mothers are known to have a specific autoimmune disease and / or are ... CHB can be isolated, where the fetus does not suffer from any other problems, or it can be a result of other diseases either in ...
Rheumatoid arthritis Sjögren's syndrome Dermatomyositis Polymyositis Mixed connective tissue disease Cold agglutinin disease ... 2013). "Connective Tissue Diseases". Rheumatology. London: Manson Publishing. p. 117. ISBN 978-1-84076-173-3. Smith CR, ... 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 ...
... mixed connective tissue disease, chondrocalcinosis and arthropathy due to amyloidosis. RS3PE has been documented in patients ... The disease mechanism (pathophysiology) of RS3PE remains unknown. One study suggested a possible role for vascular endothelial ... a distinct syndrome or a clinical feature of different inflammatory rheumatic diseases?". J. Rheumatol. 24 (2): 249-52. PMID ...
Dermatomyositis Polymyalgia rheumatica Mixed connective tissue disease Relapsing polychondritis Adult-onset Still's disease ... They treat soft tissue problems related to the musculoskeletal system, and sports related soft tissue disorders. Diseases ... Rheumatology covers more than 100 different complex diseases, collectively known as rheumatic diseases, which includes many ... Temporal arteritis Takayasu's arteritis Behçet's disease Kawasaki disease (mucocutaneous lymph node syndrome) Thromboangiitis ...
"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): ... Autoimmune Disorders of Connective Tissue". Merck Manual Home Health Handbook. "Mixed connective tissue disease - Symptoms and ... Connective tissue diseases, Disorders of fascia, Systemic connective tissue disorders, Autoimmune diseases). ...
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 ...
Sharp and colleagues first proposed mixed connective tissue disease (MCTD) as a separate autoimmune disorder. The initial ... Mixed connective tissue disease remains a controversial diagnosis. Some rheumatologists view mixed connective tissue disease as ... encoded search term (Pediatric Mixed Connective Tissue Disease) and Pediatric Mixed Connective Tissue Disease What to Read Next ... is noted in mixed connective tissue disease. Three published series on pediatric mixed connective tissue disease report 89 of ...
Mixed connective tissue disease Articles Case Reports Symptoms Treatment, China. ...
Patients who could benefit from this immunosuppressive therapy could be those who have less severe disease at baseline. For ... patients with more severe disease, pulmonary vasodilators should be s … ... Mixed Connective Tissue Disease / complications * Mixed Connective Tissue Disease / drug therapy* * Mixed Connective Tissue ... Immunosuppressive therapy in lupus- and mixed connective tissue disease-associated pulmonary arterial hypertension: a ...
Definition and epidemiology Clinical picture Treatment Definition and epidemiology Mixed connective tissue disease (MCTD) is a ... Mixed connective tissue disease (MCTD) is a rare disorder, that shows features of rheumatoid arthritis, SLE, polymyositis and ... Mixed connective tissue disease (MCTD). Reading time: 1 minute *Definition and epidemiology ...
... com/professional/musculoskeletal-and-connective-tissue-disorders/autoimmune-rheumatic-disorders/mixed-connective-tissue-disease ... and-muscle-disorders/autoimmune-disorders-of-connective-tissue/mixed-connective-tissue-disease-mctd ... About Mixed Connective Tissue Disease. MCTD is an autoimmune disease which occurs when a persons immune system decides to ramp ... What is Connective Tissue?. Connective tissue is the fibrous tissue that makes up the framework of your body. As the immune ...
"Mixed Connective Tissue Disease" by people in this website by year, and whether "Mixed Connective Tissue Disease" was a major ... Mixed Connective Tissue Disease*Mixed Connective Tissue Disease. *Connective Tissue Disease, Mixed ... Skin and Connective Tissue Diseases [C17]. *Connective Tissue Diseases [C17.300]. *Mixed Connective Tissue Disease [C17.300.540 ... "Mixed Connective Tissue Disease" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ...
All posts tagged "mixed connective tissue disease" Friday, January 22, 2021 comment 0 ...
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 ...
Mixed Connective Tissue Disease (MCTD). Epidemiology. *Defined by presence of features of SLE, polydermatomyositis, and ... Long-term outcome in mixed connective tissue disease: longitudinal clinical and serologic findings. Arthritis Rheum 1999; 42: ... Immunosuppressive therapy in lupus- and mixed connective tissue disease-associated pulmonary arterial hypertension: a ... Diffuse Alveolar Damage: Uncommon Manifestation of Pulmonary Involvement in Patients With Connective Tissue Diseases. Chest ...
... and 1000s of other diseases, symptoms, drugs, doctors, specialists, and clinics ... Search information on Mixed Connective Tissue Disease (MCTD) (15085) ... How is mixed connective tissue disease treated?. The treatment of mixed connective tissue disease is based on which features ... How is mixed connective tissue disease treated?. The treatment of mixed connective tissue disease is based on which features ...
24 Apr: What is Mixed Connective Tissue Disease?. Mixed Connective Tissue Disease (MCTD) is a rare autoimmune disease that ...
Collagen-vascular diseases (CVDs) are a heterogeneous group of autoimmune disorders characterized by the presence of ... Interstitial lung disease in mixed connective tissue disease]. Orv Hetil. 2005 Nov 27. 146(48):2435-43. [QxMD MEDLINE Link]. ... 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- ...
Mixed connective tissue disease is classified and considered as an ... Mixed Connective Tissue Disease (MCTD). Home. Types of Myositis. Mixed Connective Tissue Disease (MCTD) ... Treatment for Mixed Connective Tissue Disease. The treatment of mixed connective tissue disease is typically based on which ... Mixed connective tissue disease is an "overlap" combination of connective tissue diseases. ...
Mixed Connective Tissue Disease; Not so Mixed .embed-container { position: relative; padding-bottom: 56.25%; height: 0; ... Mixed Connective Tissue Disease; Not so Mixed ... Mixed Connective Tissue Disease; Not so Mixed - Virginia Steen ...
Mixed Connective Tissue Disease (MCTD) - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the MSD Manuals ... Mixed connective tissue disease (MCTD) occurs worldwide and in all races, with a peak incidence in adolescence and the 20s. ... Mixed connective tissue disease is an uncommon, specifically defined syndrome characterized by clinical features of systemic ... Many patients appear to have an undifferentiated connective tissue disease initially. The disease manifestations may progress ...
Peer Review History: Overview on Mixed Connective-Tissue Disease (MCTD). Editor(s): ...
Home My story Rheumatoid arthritis or ankylosing spondylitis or mixed connective tissue disease or just... ... Rheumatoid Arthritis, Lupus and Mixed Connective Tissue Disease (MCTD). Tags. actemra Adrenal insufficiency arthritic chick ... Rheumatoid arthritis or ankylosing spondylitis or mixed connective tissue disease or just plain over it. By ... So, if a person has just osteo, does it not affect as many joints? It seems like if I truly had rheumatoid disease, I would be ...
Liver Transplant Mitochondrial Disease Mixed Connective Tissue Disease Muscular Dystrophy Myopathies Neuromuscular Diseases ... Congenital Adrenal Hyperplasia Craniofacial Differences Crohns Disease Ulcerative Colitis Cystic Fibrosis Dermatomyositis ... Intestinal Pseudo Obstruction Juvenile Arthritis Kabuki Syndrome Kidney Transplant Limb Loss and Deficiencies Liver Disease ( ... Noonan Syndrome Paraplegia/Hemiplegia Peritoneal Dialysis (PD) PKU (Phenylketonuria) Primary Immunodeficiency Disease Pulmonary ...
Home My story Rheumatoid arthritis or ankylosing spondylitis or mixed connective tissue disease or just... ... Rheumatoid Arthritis, Lupus and Mixed Connective Tissue Disease (MCTD). Tags. actemra Adrenal insufficiency arthritic chick ... Rheumatoid arthritis or ankylosing spondylitis or mixed connective tissue disease or just plain over it. By ... So, if a person has just osteo, does it not affect as many joints? It seems like if I truly had rheumatoid disease, I would be ...
f. Mixed Connective Tissue Disease. 2. Trauma. Direct to Extremities. a. Following injury, fracture or operation. b. Vibrating ... Raynauds Disease. Secondary:. 1. Connective Tissue Disease. a. Scleroderma. b. Systemic Lupus Erythematosus. c. Rheumatoid ... connective tissue diseases, vascular disorders such as Buergers disease, generalized atherosclerosis, or a long history of ... Adapted from Vibration White Finger Disease in U.S. Workers [7]. Workers with medical conditions that might produce signs and ...
... the bodys immune system attacks its own tissues. Some of these diseases are similar to each other. They may involve arthritis ... the bodys immune system attacks its own tissues. Some of these diseases are similar to each other. They may involve arthritis ... In a class of diseases known as autoimmune disorders, ... In a class of diseases known as autoimmune disorders, ... Mixed connective tissue disease. *Relapsing polychondritis. *Vasculitis. When a specific disease cannot be diagnosed, more ...
Preliminary diagnostic criteria for classification of mixed connective tissue disease. In: Kasukawa R, Sharp GC, editors. Mixed ... Capillaroscopy is a dynamic process in mixed connective tissue disease. Lupus 2007;16:254-8. ... Pulmonary manifestations of Sjogren syndrome, systemic lupus erythematosus, and mixed connective tissue disease. Rheum Dis Clin ... Nailfold capillary microscopy in mixed connective tissue disease. Comparison with systemic sclerosis and systemic lupus ...
Kawasaki disease; mixed connective tissue disease; polyangiitis; polyarteritis nodosa; polymyalgia rheumatica, temporal ... diseases involving urea cycle); storage diseases (eg, Fabry disease, Tay-Sachs disease, glycogen storage disease, ... storage diseases, glycogen phosphorylase deficiency, Zellweger syndrome). Abnormal Processes: Health and Health Maintenance, ... parasitic: schistosomiasis (Schistosoma); leishmaniasis (Leishmania spp), visceral (kala- azar); trypanosomiasis/Chagas disease ...
Mixed connective-tissue disease. 5 (3%) of 180. Piette et al [21] ... 43] The more common type begins with the oral and genital ulcers of Behçet disease. The second, less common, type is the ... Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease. N Engl J Med. 2020 Dec 31. 383 (27):2628-2638. [QxMD ... Survival and predictive role of early disease manifestations. Ann Intern Med. 1986 Jan. 104(1):74-8. [QxMD MEDLINE Link]. ...
mixed connective tissue disease/undifferienated connective tissue disease). He told me then that in a month I would be feeling ... One cause is connective tissue disease, like RP. This causes the heart to enlarge and not pump the blood properly and usually ... Diseases List. What are Autoimmune Diseases?. Our Stories. ACES Message Board. Coping Information. Poetry. Easy Cooking. ... No illness or disease is a deficiency of any drug. I believe the only way for me to get well is by researching what I am ...
... of-mixed-connective-tissue-disease-using-immunophenotyping-data-from-patients-with-related-autoimmune-diseases/. Accessed . ... of-mixed-connective-tissue-disease-using-immunophenotyping-data-from-patients-with-related-autoimmune-diseases/ ... Background/Purpose: Mixed connective tissue disease (MCTD) is a heterogenous autoimmune disorder with overlapping clinical ... Machine Learning-Based Stratification of Mixed Connective Tissue Disease Using Immunophenotyping Data from Patients with ...
Could you recognize the cutaneous manifestations of 10 relatively rare systemic diseases? ... Mixed Connective Tissue Disease. The above image demonstrates Raynaud phenomenon in mixed connective tissue disease (MCTD). ... Mixed connective tissue disease with multiple organ damage: successful treatment with plasmapheresis. Intern Med. 2000 Dec;39( ... Clinical course, prognosis, and causes of death in mixed connective tissue disease. J Rheumatol. 2013 Jul;40(7):1134-42. PMID: ...
  • Mixed connective tissue disease, commonly abbreviated as MCTD, is an autoimmune disease characterized by the presence of elevated blood levels of a specific autoantibody, now called anti-U1 ribonucleoprotein (RNP) together with a mix of symptoms of systemic lupus erythematosus (SLE), scleroderma, and polymyositis. (wikipedia.org)
  • MCTD was characterized as an individual disease in 1972 by Sharp et al. (wikipedia.org)
  • It is sometimes said to be the same as undifferentiated connective tissue disease, but other experts specifically reject this idea because undifferentiated connective tissue disease is not necessarily associated with serum antibodies directed against the U1-RNP, and MCTD is associated with a more clearly defined set of signs/symptoms. (wikipedia.org)
  • citation needed] Renal disease: The absence of severe renal disease is a marker of MCTD. (wikipedia.org)
  • As MCTD can present with comorbid connective tissue diseases there must be a genetic link, however it has not yet been discovered. (wikipedia.org)
  • DNA methylation may affect the as yet unknown genetic risks of this disease as patients with MCTD have decreased DNA methylation levels in opposition to their healthy counterparts. (wikipedia.org)
  • 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)
  • Sharp et al first proposed mixed connective tissue disease (MCTD) as a separate autoimmune disorder. (medscape.com)
  • To describe the response to first-line immunosuppressive therapy with or without pulmonary vasodilators in pulmonary arterial hypertension (PAH) associated with systemic lupus erythematosus (SLE) or mixed connective tissue disease (MCTD). (nih.gov)
  • Mixed connective tissue disease (MCTD) is a rare disorder, that shows features of rheumatoid arthritis, SLE, polymyositis and sy. (dentalmammoth.com)
  • Evaluation of interstitial lung disease in mixed connective tissue disease (MCTD). (medscape.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)
  • 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)
  • Mixed connective tissue disease (MCTD) occurs worldwide and in all races, with a peak incidence in adolescence and the 20s. (msdmanuals.com)
  • However, in systemic lupus erythematosus (SLE), primary Sjögren syndrome (pSS), mixed CTD (MCTD), and rheumatoid arthritis (RA), NCM patterns and their value for these patients have been less well established. (jrheum.org)
  • Interstitial lung disease (ILD) is the most common type of pulmonary involvement in SSc, pSS, MCTD, and RA 17 , 18 . (jrheum.org)
  • Mixed connective tissue disease (MCTD) is a heterogenous autoimmune disorder with overlapping clinical features of systemic lupus erythematosus (SLE), polymyositis/dermatomyositis, and systemic sclerosis (SSc). (acrabstracts.org)
  • We enrolled a total of 215 patients with autoimmune diseases, consisting of 22 MCTD, 78 SLE, 63 IIM, and 52 SSc patients, and collected the data of immunophenotyping, bulk RNA-sequence on peripheral mononuclear blood cells, and clinical characteristics. (acrabstracts.org)
  • Mixed connective tissue disease (MCTD) er en blandet bindevevssykdom med kliniske karakteristika fra bÃ¥de SLE og SS. (legeforeningen.no)
  • The idea behind the "mixed" disease is that this specific autoantibody is also present in other autoimmune diseases such as systemic lupus erythematosus, polymyositis, scleroderma, etc. (wikipedia.org)
  • others classify the disorder as an undifferentiated connective tissue disease or overlap syndrome, which may have features of lupus , progressive systemic sclerosis, rheumatoid arthritis , and myositis but should not have its own separate name. (medscape.com)
  • Neuropsychological assessment in mixed connective tissue disease: comparison with systemic lupus erythematosus. (medscape.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)
  • Mixed connective tissue disease, as first described in 1972, is "classically" considered as an "overlap" of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis. (digestivetracthealth.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)
  • Mixed connective tissue disease is an uncommon, specifically defined syndrome characterized by clinical features of systemic lupus erythematosus, systemic sclerosis, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen. (msdmanuals.com)
  • Less common autoimmune diseases include systemic lupus erythematosus (SLE), also known as lupus, and vasculitis disorders (inflammation of blood vessels). (allergy.org.au)
  • The British, American, and Canadian rheumatology societies' Choosing Wisely guidelines all recommend that you do not order an ANA level just for fatigue or malaise unless you have suspicion for lupus or connective tissue disease. (medscape.com)
  • The way to go is to think about the illness scripts, because five conditions can result in a positive ANA: mixed connective tissue disease (a mix of other conditions), scleroderma, lupus, idiopathic inflammatory myopathy and Sjogren syndrome. (medscape.com)
  • A homogenous pattern can mean any autoimmune disease but more specifically, lupus or Sjögren's syndrome. (healingwell.com)
  • A speckled pattern may indicate various diseases, including lupus and Sjögren's syndrome. (healingwell.com)
  • Anti-SSA(Ro)/SSB(La) antibodies are detected in some patients with Sjögren syndrome , systemic lupus erythematosus (SLE), subacute cutaneous lupus erythematosus (SCLE), rheumatoid arthritis , or other connective tissue disorders. (dermnetnz.org)
  • Autoimmune disease overlap - Dermatomyositis can occur in conjunction with systemic lupus erythematosus (SLE), mixed-connective tissue disease, Sjögren syndrome, scleroderma, and rheumatoid arthritis. (medpagetoday.com)
  • They quickly diagnosed that I had a mixed connective tissue disease with overlapping lupus and scleroderma. (medlineplus.gov)
  • Identifying differences in risk factors for depression and anxiety in pediatric chronic disease: A matched cross-sectional study of youth with lupus/mixed connective tissue disease and their peers with diabetes. (bvsalud.org)
  • Connective tissue diseases are disorders featuring abnormalities involving the collagen and elastin. (digestivetracthealth.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)
  • 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)
  • In a class of diseases known as autoimmune disorders , the body's immune system attacks its own tissues. (medlineplus.gov)
  • People who developed these disorders were previously said to have "connective tissue" or "collagen vascular" disease. (medlineplus.gov)
  • Autoimmune diseases are a broad range of more than eighty related disorders, ranging from common to very rare. (allergy.org.au)
  • They can be broadly classified into rheumatological disease and vasculitis disorders. (allergy.org.au)
  • Rheumatic and autoimmune diseases are disorders which can affect any part of the body including the joints, muscles, connective tissues, and soft tissues around the joints and bones. (clevelandclinic.org)
  • Immune system disorders may result in recurrent and unusual infections, or inflammation and dysfunction of the body's own tissues. (ssa.gov)
  • 2. Autoimmune disorders (14.00D) . Autoimmune disorders are caused by dysfunctional immune responses directed against the body's own tissues, resulting in chronic, multisystem impairments that differ in clinical manifestations, course, and outcome. (ssa.gov)
  • They are sometimes referred to as rheumatic diseases, connective tissue disorders, or collagen vascular disorders. (ssa.gov)
  • 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)
  • Classification criteria for most of the rheumatic disorders have been proposed and validated 1- 6 to establish the combination of disease features most useful for a definite diagnosis and to provide a uniform language for scientific communication. (bmj.com)
  • Interstitial lung disease (ILD) is a broad category of lung diseases that includes more than 130 disorders characterized by scarring (i.e. 'fibrosis') and / or inflammation of the lungs. (nationaljewish.org)
  • The subject has a history of, or active, peptic ulceration, esophagitis, gastritis, gastrointestinal bleeding or perforation, any gastrointestinal disorders or chronic inflammatory disease (e.g. ulcerative colitis, crohn's disease). (who.int)
  • Cemento-osseous dysplasia is a group of disorders known to originate from periodontal ligament tissues. (bvsalud.org)
  • citation needed] Gastrointestinal disease: The most common change is the alteration of esophageal motility like that observed in scleroderma. (wikipedia.org)
  • Nintedanib is indicated to slow the rate of decline in pulmonary function in patients who have interstitial lung disease (ILD) associated with scleroderma. (medscape.com)
  • Scleroderma and related diseases clinical outcomes, therapeutic interventions and disease pathogenesis. (pennmedicine.org)
  • They also found I had pulmonary arterial hypertension and interstitial lung disease which resulted from the scleroderma. (medlineplus.gov)
  • Two additional diseases, Rheumatoid Arthritis and Sjogren's Disease, may also contribute their symptoms to the overall clinical picture. (mctdfoundation.org)
  • Rheumatoid Arthritis (RA) Rheumatoid arthritis is a chronic systemic autoimmune disease that primarily involves the joints. (msdmanuals.com)
  • Home My story Rheumatoid arthritis or ankylosing spondylitis or mixed connective tissue disease or just. (arthriticchick.com)
  • Common autoimmune diseases include thyroiditis, rheumatoid arthritis and diabetes. (allergy.org.au)
  • Ingegnoli F, Zeni S, Gerloni V, Fantini F. Capillaroscopic observations in childhood rheumatic diseases and healthy controls. (medscape.com)
  • Despite its unique clinical characteristics, some patients may develop other rheumatic diseases during a follow-up period [1]. (acrabstracts.org)
  • Most of the rheumatic diseases lack a single distinguishing feature, however, and each disease is usually identified by the presence of a combination of clinical and laboratory manifestations. (bmj.com)
  • This standard should consequently be used as the end point when calculating the sensitivity and specificity of the classification criteria for rheumatic diseases. (bmj.com)
  • Drugs used to manage connective tissue disease (CTD) associated with interstitial lung disease (ILD) (CTD-ILD) include nintedanib, corticosteroids, and antineoplastic agents. (medscape.com)
  • The National Jewish Health Interstitial Lung Disease Center for Patient Care, Education, Discovery and Innovation is one of the largest interstitial lung disease (ILD) centers in the country. (nationaljewish.org)
  • Interstitial Lung Disease can take on many forms. (nationaljewish.org)
  • Dermatomyositis is a multisystem autoimmune connective tissue disease that is most often characterized by a symmetric proximal extensor inflammatory myopathy, a characteristic violaceous cutaneous eruption, and pathogenic circulating autoantibodies. (medpagetoday.com)
  • Dermatomyositis and Degos disease are, rarely, associated. (medpagetoday.com)
  • However, the authors redefine mixed connective tissue disease as "a core of minor symptoms (ie, Raynaud phenomenon , puffy fingers, mild myositis, and arthritis) associated significantly with anti-U1-68kD antibody, defining an undifferentiated connective tissue (UCTD) disease that may ultimately overlap with features of major connective tissue disease. (medscape.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. (digestivetracthealth.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)
  • 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)
  • The main aims of treatments for autoimmune diseases are to relieve symptoms, minimise organ and tissue damage and preserve organ function. (allergy.org.au)
  • Continue reading to learn more about the different types of connective tissue diseases and their symptoms. (medicalnewstoday.com)
  • If a person has symptoms of more than one of these conditions, they may have mixed connective tissue disease. (medicalnewstoday.com)
  • This is rather unusual at the beginning of the disease, when the typical signs and symptoms are often lacking or are not entirely expressed. (bmj.com)
  • Hypersensitivity pneumonitis, also known as extrinsic allergic alveolitis, is an uncommon non-immunoglobulin E (IgE), T-helper cell type 1 (Th1)-mediated inflam- matory pulmonary disease with systemic symptoms resulting from repeated inhalation and subsequent sensitization to a large variety of aerosolized antigenic organic dust particles. (cdc.gov)
  • A 2016 epidemiological population based study found 3.6 years to be the average amount of time from the first manifestations of the disease until all the criteria for diagnosis were met. (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)
  • [ 2 , 3 ] A comparison of the sensitivity and specificity of the above 3 sets of criteria along with a fourth set of criteria developed by Kahn et al demonstrated that the Kahn and Alarcon-Segovia criteria are the most sensitive and specific for disease diagnosis. (medscape.com)
  • Mixed connective tissue disease remains a controversial diagnosis. (medscape.com)
  • Ortega-Hernandez OD, Shoenfeld Y. Mixed connective tissue disease: An overview of clinical manifestations, diagnosis and treatment. (medscape.com)
  • Diagnosis of mixed connective tissue disease is supported by detecting abnormal antibodies in the blood. (digestivetracthealth.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. (digestivetracthealth.com)
  • Diagnosis is by the combination of clinical features, antibodies to ribonucleoprotein, and absence of antibodies specific for other autoimmune diseases. (msdmanuals.com)
  • Sometimes a biopsy of affected tissues may be required for diagnosis. (allergy.org.au)
  • The Center for Pediatric Rheumatology provides comprehensive diagnosis, treatment, and follow-up care for children and adolescents who are living with juvenile arthritis and a wide range of autoimmune and rheumatologic diseases. (clevelandclinic.org)
  • However, classification criteria for disease syndromes can be used to ensure the standardisation of the diagnosis in patients taking part in clinical studies, and to facilitate the analysis of results and the comparison of patients between institutions. (bmj.com)
  • Unclassifiable ILDs, autoimmune ILDs, chronic hypersensitivity pneumonitis, sarcoidosis, myositis, Sjögren syndrome, coal worker pneumoconiosis, and idiopathic forms of interstitial pneumonias (eg, idiopathic nonspecific interstitial pneumonia [NSIP]) are among the diseases that may develop a progressive form of chronic fibrosing ILD. (medscape.com)
  • Systemic Sclerosis Systemic sclerosis is a rare chronic disease of unknown cause characterized by diffuse fibrosis and vascular abnormalities in the skin, joints, and internal organs (especially the esophagus. (msdmanuals.com)
  • The overall NSF disease course is chronic and progressive, with minimal chance for recovery in the absence of improved renal function. (medscape.com)
  • Neonatal-onset multisystem inflammatory disease (NOMID) or Chronic Inflammatory Neonatal Arthritis (CINCA). (clevelandclinic.org)
  • It most often occurs in patients with underlying thrombotic diathesis, including in those who are pregnant or who have a tumor, a chronic inflammatory disease, a clotting disorder, an infection, or a myeloproliferative disorder , such as polycythemia vera or paroxysmal nocturnal hemoglobinuria . (medscape.com)
  • This chronic inflammation can increase our lifetime risk for obesity , type 2 diabetes , heart disease, and some forms of cancer as well as other autoimmune diseases. (medscape.com)
  • A chronic multi-system disorder of CONNECTIVE TISSUE. (bvsalud.org)
  • It's an autoimmune disorder , meaning it involves your immune system mistakenly attacking healthy tissue. (healthline.com)
  • This disorder may evolve into one of several major connective tissue diseases or to an overlap syndrome of the major connective tissue diseases. (medscape.com)
  • An autoimmune disorder caused when antibodies-immune system cells that fight off bacteria and viruses-mistakenly attack healthy body tissues and organs. (lupus.org)
  • Generally, we need your medical history, a report(s) of a physical examination, a report(s) of laboratory findings, and in some instances, appropriate medically acceptable imaging or tissue biopsy reports to show that you have an immune system disorder. (ssa.gov)
  • The cumulative risk of incident connective tissue disorder in patients with myositis was significantly increased. (bmj.com)
  • The specific signs to suspect this disease is the presence of positive antinuclear antibodies (ANA), specifically anti-RNP, associated with Raynaud's phenomenon. (wikipedia.org)
  • Mairesse N, Kahn MF, Appelboom T. Antibodies to the constitutive 73-kd heat shock protein: a new marker of mixed connective tissue disease? (medscape.com)
  • 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. (rush.edu)
  • 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)
  • In autoimmune diseases the immune system produces antibodies that attack the body's own cells, tissues and organs, resulting in inflammation and damage. (allergy.org.au)
  • 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)
  • Anti-U1RNP antibodies are characteristic of mixed connective tissue disease . (dermnetnz.org)
  • Noninvasive investigation of the gastrointestinal tract in collagen-vascular disease. (rush.edu)
  • The connective tissues are composed of two major structural molecules, collagen and elastin. (digestivetracthealth.com)
  • There are many different collagen proteins that vary in amount in each tissue of the body. (digestivetracthealth.com)
  • It consists of a variety of proteins, such as collagen and elastin, which give the tissue its strength and flexibility. (medicalnewstoday.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)
  • We are a regional, national, and international referral center for families seeking initial evaluation or second opinion services for pediatric rheumatologic conditions, including juvenile arthritis, vasculitis and childhood autoinflammatory diseases. (clevelandclinic.org)
  • It is now known that overlap syndromes can occur that involve any combination of the connective tissue diseases. (digestivetracthealth.com)
  • These are called undifferentiated systemic rheumatic (connective tissue) diseases or overlap syndromes. (medlineplus.gov)
  • Connective tissue is the fibrous tissue that makes up the framework of your body. (mctdfoundation.org)
  • For patients with more severe disease, pulmonary vasodilators should be started, possibly in combination with immunosuppressants. (nih.gov)
  • Prednisone therapy is best prescribed in consultation with a pulmonary disease specialist. (medscape.com)
  • Although these data need validation in a prospective setting, they underline the importance of NCM in RP and putative value to stratify the risk of pulmonary involvement in early stages of disease. (jrheum.org)
  • Disease-related death occurred in at least 10% of the patients, mainly because of associated cancer and pulmonary complications. (bmj.com)
  • On the list of nonrheumatologic conditions that can produce a positive ANA are multiple sclerosis, autoimmune hepatitis, autoimmune thyroid disease, idiopathic pulmonary hypertension, and primary biliary cirrhosis. (medscape.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)
  • Cutaneous manifestations of systemic disease may be the initial complaint that causes patients to seek out a healthcare provider. (medscape.com)
  • SSc is a systemic connective tissue disease characterized by vasomotor instability, fibrosis, and immunologic disturbances, as well as by atrophy of the skin, subcutaneous tissue, muscles, and internal organs. (medscape.com)
  • Connective tissue provides the framework and support for tissues throughout the body, including bones, muscles, blood vessels, and organs. (medicalnewstoday.com)
  • These diseases can affect the joints, muscles, bones and connective tissues causing pain, swelling and stiffness. (geisinger.org)
  • The most important tools in the treatment of pediatric mixed connective tissue disease include tailoring the medical regimen, promptly attending to disease flares, and performing careful and frequent clinical and laboratory evaluations to test for new disease manifestations. (medscape.com)
  • Fifteen-year experience of pediatric-onset mixed connective tissue disease. (medscape.com)
  • Nephrology: nephritis, nephritic proteinuria associated with systemic autoimmune disease. (clevelandclinic.org)
  • 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)
  • 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). (digestivetracthealth.com)
  • Florid cemento-osseous dysplasia clearly appears to be a form of bone and/or cementoid tissues restricted to jaw bones. (bvsalud.org)
  • 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)
  • Arthritis associated with inflammatory bowel disease . (clevelandclinic.org)
  • Gastrointestinal : inflammatory bowel disease (Crohn's disease and ulcerative colitis). (clevelandclinic.org)
  • The phytochemicals in this diet have key anticarcinogenic and anti-cardiovascular disease properties, promote important antioxidants (eg, polyphenols, flavonoids), and are high in oleic acid and polyunsaturated fatty acids and low in monounsaturated fatty acids, which promote the anti-inflammatory, antithrombotic prostaglandin pathway. (medscape.com)
  • Centers for Disease Control and Prevention. (cdc.gov)
  • Saving Lives, Protecting People Centers for Disease Control and Prevention. (cdc.gov)
  • Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. (cdc.gov)
  • The Centers for Disease Control and Prevention (CDC) cannot attest to the accuracy of a non-federal website. (cdc.gov)
  • Raynaud phenomenon (RP) can be primary (idiopathic), or secondary to an underlying connective tissue disease (CTD), most commonly systemic sclerosis (SSc). (jrheum.org)
  • Manifestations include: Skin: Raynaud's phenomenon is universal and almost always is present at the beginning of the disease course. (wikipedia.org)
  • The disease manifestations may progress and become widespread, and the clinical pattern changes over time. (msdmanuals.com)
  • The word 'florid' was introduced to describe the widespread, extensive manifestations of the disease in the jaws 1 . (bvsalud.org)
  • In autoimmune connective tissue diseases, the immune system attacks healthy connective tissue, causing inflammation and damage. (medicalnewstoday.com)
  • Connective tissue diseases are often characterized by a variety of immune abnormalities that are common for each particular type of illness. (digestivetracthealth.com)
  • Each of these diseases has a characteristic presentation with typical clinical findings that doctors can recognize during an examination. (digestivetracthealth.com)
  • Autoimmune diseases are usually diagnosed using a combination of clinical history, blood tests (autoantibodies, inflammation, organ function) and other investigations such as x-rays. (allergy.org.au)
  • These diseases are often managed by clinical immunology/allergy specialists and/or rheumatologists. (allergy.org.au)
  • We determined mortality, clinical outcome (muscle strength, disability, persistent use of drugs and quality of life) and disease course and analysed prognostic outcome factors. (bmj.com)
  • Systemic autoimmune diseases can affect many body organs and tissues at the same time. (allergy.org.au)
  • Steroid medications, such as prednisone , can treat inflammation and help stop your immune system from attacking healthy tissues. (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)
  • Treatment of mixed connective tissue disease is directed at suppressing immune-related inflammation of tissues. (digestivetracthealth.com)
  • Perhaps the best way to consider mixed connective tissue disease is as an undifferentiated connective tissue disease represented mostly by Raynaud phenomenon and anti-RNP antibody. (medscape.com)
  • Mixed connective tissue disease--an apparently distinct rheumatic disease syndrome associated with a specific antibody to an extractable nuclear antigen (ENA). (medscape.com)
  • when the IgM antibody deposits in kidney tissue. (nih.gov)
  • Asbestosis is a diffuse interstitial fibrosis of lung tissue resulting from inhalation of asbestos fibers. (cdc.gov)
  • Asbestos fibers inhaled deep into the lung become lodged in the tissue, eventually resulting in diffuse alveolar and interstitial fibrosis. (cdc.gov)
  • Relapsing polychondritis is an autoimmune disease that affects the cartilage in the body. (tripod.com)
  • They noted that, after a few episodes of inflammation, the cartilage was replaced by fibrous connective tissue. (medscape.com)
  • 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)
  • citation needed] Cardiac disease: Pericarditis is the most common cardiac manifestation, observed in 10-30% of patients. (wikipedia.org)
  • Adding support to the concept of mixed connective tissue disease as a distinct entity, in 1993, Mairesse et al described an autoantibody to the constitutive 73-kD heat shock protein found at high levels exclusively in patients with mixed connective tissue disease. (medscape.com)
  • Patients who could benefit from this immunosuppressive therapy could be those who have less severe disease at baseline. (nih.gov)
  • Patients with this pattern illness have features of each of these three diseases. (digestivetracthealth.com)
  • Many patients appear to have an undifferentiated connective tissue disease initially. (msdmanuals.com)
  • SSc pattern on NCM is common in patients with RP, and in those with connective tissue diseases other than SSc. (jrheum.org)
  • NSF is a fibrotic disease of the skin and internal organs that develops in patients with renal insufficiency after exposure to gadolinium-based contrast agents (GBCAs). (medscape.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)
  • Disease is often detectable on muscle MRI, and many of these patients go on to develop muscle weakness as the disease progresses. (medpagetoday.com)
  • With proper therapy, 75% of patients can be disease free within 3 years. (medpagetoday.com)
  • This study aimed to evaluate the image quality for depicting the aorta and main branches and the diagnostic performance of whole-body PET angiography in patients with vascular disease. (bvsalud.org)
  • Aux États-Unis, lorsque le séjour en unité des soins intensifs est prolongé, les patients peuvent être transférés vers un CHSLD. (who.int)
  • Dans la pratique, les patients qui ont besoin de soins de longue durée en Turquie sont hospitalisés en unités de soins intensifs. (who.int)
  • Une proportion importante des lits réservés aux unités de soins intensifs en Turquie sont utilisés pour les soins de longue durée aux patients atteints de problèmes complexes. (who.int)
  • According to the Genetic and Rare Diseases Information Center (GARD), women are three times more likely than men to develop the condition. (healthline.com)
  • 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)
  • Histopathological analysis of lung sections showed that while granulomatous inflammation was similarly induced in both exposures, CNTs caused type II pneumocyte (T2P) hyperplasia, while asbestos caused mixed-cell bronchoalveolar hyperplasia. (cdc.gov)
  • Co-staining for proSPC and IL-1beta showed that while both exposures increased IL-beta+ cells in lung tissue, CNTinduced IL-1beta increases were largely specific to T2Ps. (cdc.gov)
  • Asbestosis is characterized by the following radiographic changes: fine, irregular opacities in both lung fields (especially in the bases) and septal lines that progress to honeycombing and sometimes, in more severe disease, obscuration of the heart border and hemi-diaphragm - the so-called shaggy heart sign [Khan et al. (cdc.gov)
  • Hypersensitivity pneumonitis was originally described in 1713 as an occupational lung disease in grain workers and later, in 1932, in farmers inhaling moldy hay contam- inated with thermophilic actinomyces, hence the term farmer's lung.1 With this recog- nition, modernization of farming methods has resulted in the reduction in farmer's lung prevalence estimated at 0.5% to 3% of exposed farmers in studies spanning from 1980 to 2003. (cdc.gov)
  • 12 Historically, feather bloom and droppings from pigeons or indoor pet birds have been implicated in triggering pigeon breeder's lung or bird fancier's disease. (cdc.gov)
  • Treatment varies with disease severity and organ involvement but usually includes corticosteroids and additional immunosuppressants. (msdmanuals.com)
  • These diseases are often managed by organ-specific medical specialists, such as endocrinologists, gastroenterologists, neurologists or rheumatologists. (allergy.org.au)
  • Radiographs may show calcifications of the soft tissue. (medscape.com)
  • The most frequent presentation of mixed connective tissue disease is a child with polyarthritis, general malaise, and Raynaud phenomenon. (medscape.com)
  • Systemisk sklerose (SSc) er en multiorgansykdom karakterisert av økt fibrosedannelse og vaskulopati, klinisk med Raynaud fenomen, sÃ¥rdannelse fingre og fortykket hud. (legeforeningen.no)
  • A quality control worker in a feed factory developed acute disease after taking samples of cattle feed treated with phytase, a fungal-derived enzyme used to treat cattle feed to strengthen bone. (cdc.gov)
  • Keep in mind that of all the people diagnosed with this disease, 13% may develop severe complications in 6-12 years. (mctdfoundation.org)
  • There is no cure for EDS, so treatment aims to prevent disease progression and complications. (medicalnewstoday.com)
  • 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)