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.

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.

"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). ...
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Mixed connective-tissue disease (MCTD) was first recognized by Sharp and colleagues (1972) in a group of patients with ... encoded search term (Mixed Connective-Tissue Disease (MCTD)) and Mixed Connective-Tissue Disease (MCTD) What to Read Next on ... Classification and diagnostic criteria for mixed connective tissue disease. Kasukawa R, Sharp GC, eds. Mixed Connective Tissue ... of mixed connective tissue disease differ distinctly from the profiles of clinically related connective tissue diseases. ...
... mixed connective tissue disease (MCTD) is sometimes called an overlap disease.. In mixed connective tissue disease, the ... Theres no cure for mixed connective tissue disease. Treatment depends on how severe the disease is and the organs involved. ... of people with mixed connective tissue disease have iron deficiency anemia.. *Tissue death. People with severe Raynauds ... Early indications of mixed connective tissue disease can include:. *General feeling of being unwell. This can include increased ...
Undifferentiated connective tissue disease, mixed connective tissue disease, and overlap syndromes in rheumatology. Mo Med. ... Association study between immune-related miRNAs and mixed connective tissue disease Barbara Stypińska 1 , Aleksandra ... Association study between immune-related miRNAs and mixed connective tissue disease Barbara Stypińska et al. Arthritis Res Ther ... Background: Mixed connective tissue disease (MCTD) is a rare condition that is distinguished by the presence of specific U1-RNP ...
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Adult-onset CMV disease may occur as a result of primary infection, reinfection, or activation of a latent infection. Although ... and was diagnosed with cold agglutinin disease, a type of autoimmune hemolytic anemia (AIHA). Autoimmune workup revealed MCTD ... Mixed connective tissue disease (MCTD) is an overlap syndrome characterized by features of systemic lupus erythematosus, ...
... such as in the idiopathic inflammatory myopathies and mixed connective tissue disease, as well as being studied as a serial ... before moving on to discuss the various established and emerging applications as relevant to the connective tissue diseases. In ... pulmonary hypertension and interstitial lung disease, and even mortality. It is emerging as a useful investigation in other ... NFC has been shown to predict disease activity, many organ-specific complications such as digital ulcers, ...
Asthma, Interstitial lung disease and mixed connective tissue disease. Posted by jmb73 @jmb73, May 25, 2020 ... I just got the results of the HRCT and everything is normal- no abnormalities and no sign of lung disease. I am afraid to be ...
Learn how you can qualify for disability benefits with mixed connective tissue disorder or undifferentiated connective tissue ... What Is Mixed Connective Tissue Disease?. Mixed connective tissue disease (MCTD) is a rare autoimmune disorder thats often ... What Causes Undifferentiated or Mixed Connective Tissue Disease?. Undifferentiated and mixed connective tissue diseases are ... mixed connective tissue disease occurs at 1/20th the rate of lupus. Mixed connective tissue disease can occur in people at any ...
There are over 200 disorders that affect connective tissues. Examples include cellulitis, scars, and osteogenesis imperfecta. ... Connective Tissue Diseases (National Institutes of Health) * ClinicalTrials.gov: Mixed Connective Tissue Disease (National ... Mixed Connective Tissue Disease (Mayo Foundation for Medical Education and Research) Also in Spanish ... Cartilage and fat are types of connective tissue.. Over 200 disorders that impact connective tissue. There are different types: ...
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U1-ribonucleoprotein (RNP) antibodies are a specific marker of the disease. ... Mixed connective-tissue disease (MCTD) is a disorder with features of systemic sclerosis (SSc), lupus erythematosus, and ... Mixed connective-tissue disease (MCTD) is uncommon worldwide. The incidence of adult-onset mixed connective-tissue disease ( ... Dermatologic Manifestations of Mixed Connective Tissue Disease) and Dermatologic Manifestations of Mixed Connective Tissue ...
SLE and Mixed Connective Tissue Disease In patients with systemic lupus erythematosus (SLE) and mixed connective tissue disease ... and mixed connective tissue disease, see ). PRECAUTIONS ... Patients with known CV disease or risk factors for CV disease ... Patients with cardiovascular disease or risk factors for cardiovascular disease may be at greater risk. (See .) WARNINGS ... Advanced Renal Disease No information is available from controlled clinical studies regarding the use of sulindac in patients ...
SLE and Mixed Connective Tissue Disease. In patients with systemic lupus erythematosus (SLE) and mixed connective tissue ... and mixed connective tissue disease, see PRECAUTIONS).. Special Senses. Blurred vision; visual disturbances; decreased hearing ... Patients with known CV disease or risk factors for CV disease may be at greater risk. To minimize the potential risk for an ... Patients with cardiovascular disease or risk factors for cardiovascular disease may be at greater risk. (See WARNINGS.) ...
The term mixed connective tissue disease (MCTD) has been applied to a particular subset of patients with overlapping clinical ... Mixed connective tissue disease: a case with scleroderma renal crisis following abortion ... a high risk of fetal loss and of disease exacerbation or no influence on fetus or mother. In MCTD, simultaneous pulmonary and ...
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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 ...
Autoimmune hepatitis and myositis as presenting manifestation of mixed connective tissue disease - A case report ... Sharp GC, Irvin WS, Tan EM, Gould RG, Holman HR. Mixed connective tissue disease--an apparently distinct rheumatic disease ... Mixed connective tissue disease (MCTD) is a rare systemic autoimmune disease. It was first described in 1972 by Sharp et al.,[1 ... Hoffman RW, Greidinger EL. Mixed connective tissue disease. Curr Opin Rheumatol. 2000;12:386-90. [CrossRef] [PubMed] [Google ...
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1998) Mixed connective tissue disease: to be or not to be? Arthritis Rheum 41:768-777, . ... connective tissue disease. A characteristic feature of patients with connective tissue diseases (CTDs) is detection of high ... 1996) Blotting patterns of IgG anti-(U1)RNP antibodies in mixed connective tissue disease. Rheumatol Int 16:145-150, . ... 1990) Clinical significance of antibodies to a 68kD U1RNP polypeptide in connective tissue disease. J Rheumatol 17:1320-1328, . ...
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"Mixed connective tissue diseases". Mixed Connective Tissue Disease (MCTD) and Undifferentiated Connective Tissue Disease (UCTD) ... Mixed Connective Tissue Disease, a Roundabout to Rheumatic Diseases?. Journal: Current Rheumatology Reviews. Volume: 5 Issue: 2 ... Mixed Connective Tissue Disease (MCTD) â A Coming of Age. Journal: Current Rheumatology Reviews. Volume: 8 Issue: 1 Year: 2012 ... Imaging Patterns of Cardiovascular Involvement in Mixed Connective Tissue Disease Evaluated by Cardiovascular Magnetic ...
For patients with PAH-CTD, the underlying CTD could be specified as SSc, SLE or mixed connective tissue disease (MCTD). At ... Connective tissue disease (CTD) encompasses a heterogeneous group of diseases including systemic sclerosis (SSc) and systemic ... Connective tissue disease-associated pulmonary arterial hypertension in the modern treatment era. Am J Respir Crit Care Med ... Selexipag for the treatment of connective tissue disease-associated pulmonary arterial hypertension. Sean Gaine, Kelly Chin, ...

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