A group of HEREDITARY AUTOINFLAMMATION DISEASES, characterized by recurrent fever, abdominal pain, headache, rash, PLEURISY; and ARTHRITIS. ORCHITIS; benign MENINGITIS; and AMYLOIDOSIS may also occur. Homozygous or compound heterozygous mutations in marenostrin gene result in autosomal recessive transmission; simple heterozygous, autosomal dominant form of the disease.
An ancient country in western Asia, by the twentieth century divided among the former USSR, Turkey, and Iran. It was attacked at various times from before the 7th century B.C. to 69 B.C. by Assyrians, Medes, Persians, the Greeks under Alexander, and the Romans. It changed hands frequently in wars between Neo-Persian and Roman Empires from the 3d to 7th centuries and later under Arabs, Seljuks, Byzantines, and Mongols. In the 19th century Armenian nationalism arose but suffered during Russo-Turkish hostilities. It became part of the Soviet Republic in 1921, with part remaining under Turkey. (Webster's New Geographical Dictionary, 1988)
A major alkaloid from Colchicum autumnale L. and found also in other Colchicum species. Its primary therapeutic use is in the treatment of gout, but it has been used also in the therapy of familial Mediterranean fever (PERIODIC DISEASE).
Major constituent of the cytoskeleton found in the cytoplasm of eukaryotic cells. They form a flexible framework for the cell, provide attachment points for organelles and formed bodies, and make communication between parts of the cell possible.
Agents that increase uric acid excretion by the kidney (URICOSURIC AGENTS), decrease uric acid production (antihyperuricemics), or alleviate the pain and inflammation of acute attacks of gout.
A group of sporadic, familial and/or inherited, degenerative, and infectious disease processes, linked by the common theme of abnormal protein folding and deposition of AMYLOID. As the amyloid deposits enlarge they displace normal tissue structures, causing disruption of function. Various signs and symptoms depend on the location and size of the deposits.
An ethnic group with historical ties to the land of ISRAEL and the religion of JUDAISM.
Autosomal recessive disorder caused by mutations in the mevalonate kinase gene. Because of the mutations cholesterol biosynthesis is disrupted and MEVALONIC ACID accumulates. It is characterized by a range of symptoms, including dysmorphic FACIES, psychomotor retardation, CATARACT, hepatosplenomegaly, CEREBELLAR ATAXIA, elevated IMMUNOGLOBULIN D, and recurrent febrile crises with FEVER; LYMPHADENOPATHY; ARTHRALGIA; EDEMA; and rash.
Hereditary inflammation conditions, characterized by recurrent episodes of systemic inflammation. Common symptoms include recurrent fever, rash, arthritis, fatigue, and secondary AMYLOIDOSIS. Hereditary autoinflammatory diseases are associated with mutations in genes involved in regulation of normal inflammatory process and are not caused by AUTOANTIBODIES, or antigen specific T-LYMPHOCYTES.
The geographical area of Africa comprising ALGERIA; EGYPT; LIBYA; MOROCCO; and TUNISIA. It includes also the vast deserts and oases of the Sahara. It is often referred to as North Africa, French-speaking Africa, or the Maghreb. (From Webster's New Geographical Dictionary, 1988, p856)
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
Members of a Semitic people inhabiting the Arabian peninsula or other countries of the Middle East and North Africa. The term may be used with reference to ancient, medieval, or modern ethnic or cultural groups. (From Random House Unabridged Dictionary, 2d ed)
Sensation of discomfort, distress, or agony in the abdominal region.
An abnormal elevation of body temperature, usually as a result of a pathologic process.
Diseases in which there is a familial pattern of AMYLOIDOSIS.
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Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
Agents that interact with TUBULIN to inhibit or promote polymerization of MICROTUBULES.
An ACUTE PHASE REACTION protein present in low concentrations in normal sera, but found at higher concentrations in sera of older persons and in patients with AMYLOIDOSIS. It is the circulating precusor of amyloid A protein, which is found deposited in AA type AMYLOID FIBRILS.
An individual having different alleles at one or more loci regarding a specific character.
An individual in which both alleles at a given locus are identical.
A group of rare autosomal dominant diseases, commonly characterized by atypical URTICARIA (hives) with systemic symptoms that develop into end-organ damage. The atypical hives do not involve T-cell or autoantibody. Cryopyrin-associated periodic syndrome includes three previously distinct disorders: Familial cold autoinflammatory syndrome; Muckle-Wells Syndrome; and CINCA Syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 protein mutations.
Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.
Inflammation of the SACROILIAC JOINT. It is characterized by lower back pain, especially upon walking, fever, UVEITIS; PSORIASIS; and decreased range of motion. Many factors are associated with and cause sacroiliitis including infection; injury to spine, lower back, and pelvis; DEGENERATIVE ARTHRITIS; and pregnancy.
I'm sorry for any confusion, but "Israel" is a country in the Middle East and does not have a medical definition. If you have any medical questions or terms you would like me to define, I'd be happy to help!
An immunoglobulin which accounts for less than 1% of plasma immunoglobulin. It is found on the membrane of many circulating B LYMPHOCYTES.
Inflammation of the PERICARDIUM from various origins, such as infection, neoplasm, autoimmune process, injuries, or drug-induced. Pericarditis usually leads to PERICARDIAL EFFUSION, or CONSTRICTIVE PERICARDITIS.
Measurement of rate of settling of erythrocytes in anticoagulated blood.
The magnitude of INBREEDING in humans.
A ligand that binds to but fails to activate the INTERLEUKIN 1 RECEPTOR. It plays an inhibitory role in the regulation of INFLAMMATION and FEVER. Several isoforms of the protein exist due to multiple ALTERNATIVE SPLICING of its mRNA.
A long pro-domain caspase that has specificity for the precursor form of INTERLEUKIN-1BETA. It plays a role in INFLAMMATION by catalytically converting the inactive forms of CYTOKINES such as interleukin-1beta to their active, secreted form. Caspase 1 is referred as interleukin-1beta converting enzyme and is frequently abbreviated ICE.
Biochemical identification of mutational changes in a nucleotide sequence.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.
Inflammation of a serous membrane.
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)

Identification and characterization of a zinc finger gene (ZNF213) from 16p13.3. (1/339)

During our search for the familial Mediterranean fever (FMF) gene, we identified by cDNA selection a 1.2 kb cDNA fragment representing a novel human gene that is expressed in a wide variety of tissues. This gene spans approx. 8.0 kb genomic DNA and has seven exons. Its 3' untranslated region contains a long tandem repeat that gives rise to a polymorphism with two alleles of approx. 1.1 kb and 1.0 kb, with the 1.1 kb allele in strong linkage disequilibrium with FMF in patients of different ethnic backgrounds. However, both genetic and mutational analyses have excluded this gene as the one responsible for FMF. The predicted 424 amino acid protein, designated ZNF213, contains three C2H2 zinc fingers, a Kruppel associated A box and a leucine rich motif (LeR domain/SCAN box), strongly suggestive of a transcription factor.  (+info)

Pyrin/marenostrin mutations in familial Mediterranean fever. (2/339)

Familial Mediterranean fever (FMF) is an inherited inflammatory disease that is frequently complicated by reactive systemic (AA) amyloidosis. It is principally recognized in certain Mediterranean populations, and the diagnosis depends on clinical features. Four mutations strongly linked to FMF have lately been identified in a gene encoding a novel protein that has been named pyrin or marenostrin. We studied 27 consecutive patients of varied ethnic origin, including an English man, who had classical, probable or possible FMF. Pyrin/marenostrin genotypes were determined, and AA amyloidosis was sought using serum amyloid P component scintigraphy. Among the 23 patients with classical or probable FMF, 17 were homozygotes or compound heterozygotes for pyrin/marenostrin mutations, and in five, only single allele mutations were identified. Two new mutations, T6811 and delta M694, were discovered in addition to the four described previously. No mutations were identified in three of the four patients with possible FMF. Nine patients had AA amyloidosis, but this association was not restricted to any particular genotype. Most patients with FMF have mutations in both pyrin/marenostrin alleles, and genotyping at this locus is a valuable diagnostic test. Unidentified second mutations are likely to occur in FMF patients who have apparently solitary mutations, and therefore genotype results must be interpreted in conjunction with the clinical picture.  (+info)

Familial Mediterranean fever--renal involvement by diseases other than amyloid. (3/339)

BACKGROUND: In patients with familial Mediterranean fever (FMF) renal involvement is usually in the form of AA amyloidosis. There is increasing evidence that renal involvement may be due to diseases other than amyloid as well. METHODS: Amongst 302 children with FMF we observed and followed 28 with typical clinical and laboratory features of vasculitis. The diagnosis of FMF was established according to the Tel Hashomer criteria. RESULTS: Polyarteritis nodosa, protracted febrile attacks and Henoch-Schonlein purpura were diagnosed in 4, 13, and 11 patients, respectively. The presentation was often difficult to distinguish from FMF attacks, but protracted febrile attacks lasting several weeks, hypertension, thrombocytosis, and dramatic responses to corticosteroid therapy that were observed in many cases were different from what is observed in classical FMF. CONCLUSIONS: We suggest that FMF, perhaps as a consequence of impaired control of inflammatory responses, predisposes to vasculitis with renal involvement.  (+info)

Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. (4/339)

Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever with serositis or synovitis. The FMF gene (MEFV) was cloned recently, and four missense mutations were identified. Here we present data from non-Ashkenazi Jewish and Arab patients in whom we had not originally found mutations and from a new, more ethnically diverse panel. Among 90 symptomatic mutation-positive individuals, 11 mutations accounted for 79% of carrier chromosomes. Of the two mutations that are novel, one alters the same residue (680) as a previously known mutation, and the other (P369S) is located in exon 3. Consistent with another recent report, the E148Q mutation was observed in patients of several ethnicities and on multiple microsatellite haplotypes, but haplotype data indicate an ancestral relationships between non-Jewish Italian and Ashkenazi Jewish patients with FMF and other affected populations. Among approximately 200 anonymous Ashkenazi Jewish DNA samples, the MEFV carrier frequency was 21%, with E148Q the most common mutation. Several lines of evidence indicate reduced penetrance among Ashkenazi Jews, especially for E148Q, P369S, and K695R. Nevertheless, E148Q helps account for recessive inheritance in an Ashkenazi family previously reported as an unusual case of dominantly inherited FMF. The presence of three frequent MEFV mutations in multiple Mediterranean populations strongly suggests a heterozygote advantage in this geographic region.  (+info)

Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. (5/339)

Autosomal dominant periodic fever syndromes are characterized by unexplained episodes of fever and severe localized inflammation. In seven affected families, we found six different missense mutations of the 55 kDa tumor necrosis factor receptor (TNFR1), five of which disrupt conserved extracellular disulfide bonds. Soluble plasma TNFR1 levels in patients were approximately half normal. Leukocytes bearing a C52F mutation showed increased membrane TNFR1 and reduced receptor cleavage following stimulation. We propose that the autoinflammatory phenotype results from impaired downregulation of membrane TNFR1 and diminished shedding of potentially antagonistic soluble receptor. TNFR1-associated periodic syndromes (TRAPS) establish an important class of mutations in TNF receptors. Detailed analysis of one such mutation suggests impaired cytokine receptor clearance as a novel mechanism of disease.  (+info)

Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis. (6/339)

Familial Mediterranean fever (FMF) is an autosomal recessive disease characterised by recurrent attacks of inflammation of serosal membranes. Amyloidosis is the most severe complication of the disease. The aim of this study was to investigate the genotype-phenotype correlation and specifically the association between amyloidosis and the four common mutations in exon 10 of the gene causing FMF (MEFV) in a total of 83 FMF families from three ethnic groups: North African Jews, Armenians and Turks. A significant association was found between amyloidosis and the specific mutation at the MEFV gene: Met694Val (RR = 1.41, P = 0.02). Amyloidosis was present in 18 out of 87 homozygous FMF patients (20.7%) and in only two out of the 41 compound heterozygous FMF patients (4.9%). No patients carrying other mutations had amyloidosis. There was no significant association between the various mutations and the type or severity of the FMF symptoms. This finding underscores the importance of performing molecular studies on all suspect FMF patients. In addition to providing accurate diagnosis, these tests allow identification of presymptomatic genetically affected individuals, detection of carriers and assessment of the risk for amyloidosis in later life.  (+info)

MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications. (7/339)

Familial Mediterranean fever (FMF) is a recessively inherited disorder that is common in patients of Armenian ancestry. To date, its diagnosis, which can be made only retrospectively, is one of exclusion, based entirely on nonspecific clinical signs that result from serosal inflammation and that may lead to unnecessary surgery. Renal amyloidosis, prevented by colchicine, is the most severe complication of FMF, a disorder associated with mutations in the MEFV gene. To evaluate the diagnostic and prognostic value of MEFV-gene analysis, we investigated 90 Armenian FMF patients from 77 unrelated families that were not selected through genetic-linkage analysis. Eight mutations, one of which (R408Q) is new, were found to account for 93% of the 163 independent FMF alleles, with both FMF alleles identified in 89% of the patients. In several instances, family studies provided molecular evidence for pseudodominant transmission and incomplete penetrance of the disease phenotype. The M694V homozygous genotype was found to be associated with a higher prevalence of renal amyloidosis and arthritis, compared with other genotypes (P=.0002 and P=.006, respectively). The demonstration of both the diagnostic and prognostic value of MEFV analysis and particular modes of inheritance should lead to new ways for management of FMF-including genetic counseling and therapeutic decisions in affected families.  (+info)

Familial Mediterranean fever in children: the expanded clinical profile. (8/339)

The clinical picture of familial Mediterranean fever (FMF) has been appreciably expanded in the last 10 years. Over 8 years, we studied the expanded clinical profile of FMF in 476 children. Of these, 81% had abdominal pain, 41% chest pain, 42% arthritis, 12% severe myalgia, 12% skin manifestations, 4% scrotal swelling, 3% recurrent episodic fever, and one child (0.2%) developed recurrent hyperbilirubinaemia. Two (0.4%) children developed renal complications which were reversed by colchicine; however of 19 probands, 36 family members suffered from chronic renal failure. Our study indicates a familial predisposition to nephropathy in certain families with FMF. This study is the first to report the expanded clinical profile of FMF in a large group of Arab children, giving an opportunity to compare the findings with those in children with FMF in other ethnic groups, and to help in the study of genotype-phenotype correlation.  (+info)

Familial Mediterranean Fever (FMF) is a hereditary inflammatory disorder that primarily affects people of Mediterranean ancestry, including populations from Turkey, Armenia, Arab countries, and Jewish communities from the Middle East. It is caused by mutations in the MEFV gene, which provides instructions for making a protein called pyrin or marenostrin.

The main features of FMF include recurrent episodes of fever, serositis (inflammation of the membranes lining the abdominal cavity, chest cavity, or heart), and polyserositis (inflammation affecting multiple serous membranes simultaneously). The attacks usually last between 12 and 72 hours and can be associated with severe abdominal pain, joint pain, and skin rashes.

The diagnosis of FMF is based on clinical criteria, family history, and genetic testing. Treatment typically involves the use of colchicine, an anti-inflammatory medication that helps prevent attacks and reduces the risk of long-term complications such as amyloidosis, a condition characterized by the buildup of abnormal protein deposits in various organs.

Early diagnosis and treatment of FMF are essential to prevent complications and improve quality of life for affected individuals.

I must clarify that "Armenia" is not a medical term or condition. It's the name of a country located in the South Caucasus region, situated at the crossroads of Western Asia and Eastern Europe. Armenia is known for its rich history, unique culture, and natural beauty.

If you have any questions related to medical conditions, diseases, or healthcare practices in Armenia, I would be happy to help answer those. However, it's important to note that providing a medical definition of a country isn't applicable.

Colchicine is a medication that is primarily used to treat gout, a type of arthritis characterized by sudden and severe attacks of pain, swelling, redness, and tenderness in the joints. It works by reducing inflammation and preventing the formation of uric acid crystals that cause gout symptoms.

Colchicine is also used to treat familial Mediterranean fever (FMF), a genetic disorder that causes recurrent fevers and inflammation in the abdomen, chest, and joints. It can help prevent FMF attacks and reduce their severity.

The medication comes in the form of tablets or capsules that are taken by mouth. Common side effects of colchicine include diarrhea, nausea, vomiting, and abdominal pain. In rare cases, it can cause more serious side effects such as muscle weakness, nerve damage, and bone marrow suppression.

It is important to follow the dosage instructions carefully when taking colchicine, as taking too much of the medication can be toxic. People with certain health conditions, such as liver or kidney disease, may need to take a lower dose or avoid using colchicine altogether.

Cytoskeletal proteins are a type of structural proteins that form the cytoskeleton, which is the internal framework of cells. The cytoskeleton provides shape, support, and structure to the cell, and plays important roles in cell division, intracellular transport, and maintenance of cell shape and integrity.

There are three main types of cytoskeletal proteins: actin filaments, intermediate filaments, and microtubules. Actin filaments are thin, rod-like structures that are involved in muscle contraction, cell motility, and cell division. Intermediate filaments are thicker than actin filaments and provide structural support to the cell. Microtubules are hollow tubes that are involved in intracellular transport, cell division, and maintenance of cell shape.

Cytoskeletal proteins are composed of different subunits that polymerize to form filamentous structures. These proteins can be dynamically assembled and disassembled, allowing cells to change their shape and move. Mutations in cytoskeletal proteins have been linked to various human diseases, including cancer, neurological disorders, and muscular dystrophies.

Gout suppressants are a type of medication used to treat acute gout attacks and reduce the risk of future episodes. They work by decreasing the production of uric acid in the body or improving its elimination, thereby reducing the formation of uric acid crystals that cause inflammation and pain in the joints. Common examples of gout suppressants include:

1. Colchicine: This medication is often used to treat acute gout attacks by reducing inflammation and swelling in the affected joint. It should be taken as soon as possible after the onset of symptoms for best results.

2. Nonsteroidal anti-inflammatory drugs (NSAIDs): These medications, such as ibuprofen, naproxen, and celecoxib, can help alleviate pain and inflammation during an acute gout attack. They are usually more effective when taken at the first sign of an attack.

3. Corticosteroids: In some cases, corticosteroid medications like prednisone may be prescribed to treat severe gout attacks that do not respond to other treatments. These drugs can be administered orally or injected directly into the affected joint.

4. Allopurinol and febuxostat: These medications are called xanthine oxidase inhibitors, which reduce uric acid production in the body. They are typically used for chronic gout management to prevent future attacks and lower the risk of complications such as kidney stones and joint damage.

It is important to note that some gout suppressants may have side effects or interact with other medications, so it is crucial to discuss any concerns with a healthcare provider before starting treatment. Additionally, lifestyle changes such as maintaining a healthy weight, following a low-purine diet, and staying hydrated can help manage gout symptoms and lower the risk of future attacks.

Amyloidosis is a medical condition characterized by the abnormal accumulation of insoluble proteins called amyloid in various tissues and organs throughout the body. These misfolded protein deposits can disrupt the normal function of affected organs, leading to a range of symptoms depending on the location and extent of the amyloid deposition.

There are different types of amyloidosis, classified based on the specific proteins involved:

1. Primary (AL) Amyloidosis: This is the most common form, accounting for around 80% of cases. It results from the overproduction and misfolding of immunoglobulin light chains, typically by clonal plasma cells in the bone marrow. The amyloid deposits can affect various organs, including the heart, kidneys, liver, and nervous system.
2. Secondary (AA) Amyloidosis: This form is associated with chronic inflammatory diseases, such as rheumatoid arthritis, tuberculosis, or familial Mediterranean fever. The amyloid fibrils are composed of serum amyloid A protein (SAA), an acute-phase reactant produced during the inflammatory response. The kidneys are commonly affected in this type of amyloidosis.
3. Hereditary or Familial Amyloidosis: These forms are caused by genetic mutations that result in the production of abnormal proteins prone to misfolding and amyloid formation. Examples include transthyretin (TTR) amyloidosis, fibrinogen amyloidosis, and apolipoprotein AI amyloidosis. These forms can affect various organs, including the heart, nerves, and kidneys.
4. Dialysis-Related Amyloidosis: This form is seen in patients undergoing long-term dialysis for chronic kidney disease. The amyloid fibrils are composed of beta-2 microglobulin, a protein that accumulates due to impaired clearance during dialysis. The joints and bones are commonly affected in this type of amyloidosis.

The diagnosis of amyloidosis typically involves a combination of clinical evaluation, imaging studies, and tissue biopsy with the demonstration of amyloid deposition using special stains (e.g., Congo red). Treatment depends on the specific type and extent of organ involvement and may include supportive care, medications to target the underlying cause (e.g., chemotherapy, immunomodulatory agents), and organ transplantation in some cases.

I'm sorry for any confusion, but "Jews" is not a medical term. It is a term used to describe a group of people who share cultural, religious, and ethnic heritage. The Jewish people originated from the ancient kingdoms of Israel and Judah. They are bound together by their religion, Judaism, which is based on the Torah, or the five books of Moses.

If you have any medical questions or terms that you would like defined, I'd be happy to help!

Mevalonate kinase deficiency (MKD) is a rare autosomal recessive genetic disorder that affects the metabolism of cholesterol and other essential isoprenoids. It is caused by mutations in the MVK gene, which provides instructions for making the enzyme mevalonate kinase.

This enzyme plays a critical role in the production of isoprenoids, including cholesterol, coenzyme Q10, and dolichols, which are essential for various cellular functions such as membrane stability, protein prenylation, and glycosylation. In MKD, the deficiency of mevalonate kinase leads to an accumulation of its substrate, mevalonic acid, and a decrease in isoprenoid production.

MKD has two clinical manifestations: hyperimmunoglobulin D syndrome (HIDS) and mevalonic aciduria (MA). HIDS is the milder form of the disorder, characterized by recurrent fever episodes, gastrointestinal symptoms, rash, lymphadenopathy, and joint pain. MA is the severe form of MKD, which presents with developmental delay, neurological impairment, cataracts, failure to thrive, and recurrent infections. Both forms of MKD are associated with increased levels of mevalonic acid in body fluids, including urine and blood.

The diagnosis of MKD is based on clinical features, biochemical markers, and genetic testing. Treatment options for MKD include anti-inflammatory medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids, and biologic agents such as anakinra and canakinumab, which target the interleukin-1 (IL-1) pathway. In some cases, dietary modifications and supplementation with coenzyme Q10 may also be beneficial.

Hereditary autoinflammatory diseases (HAIDs) are a group of rare, inherited disorders characterized by recurrent episodes of inflammation in the body. These diseases are caused by mutations in genes that regulate the innate immune system, which is the body's first line of defense against infection.

In HAIDs, the immune system mistakenly attacks the body's own cells and tissues, leading to symptoms such as fever, rash, joint pain and swelling, abdominal pain, and inflammation of internal organs. The symptoms can vary in severity and frequency, and may be triggered by factors such as stress, infection, or physical exertion.

Examples of HAIDs include Familial Mediterranean Fever (FMF), Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS), Cryopyrin-Associated Periodic Syndromes (CAPS), and Blau syndrome/Early Onset Sarcoidosis.

The diagnosis of HAIDs is often challenging due to the rarity of these conditions and overlapping symptoms with other diseases. Genetic testing, medical history, physical examination, and laboratory tests are used to confirm the diagnosis and determine the specific type of HAID. Treatment typically involves medications that suppress the overactive immune system, such as biologic agents that target specific components of the immune system.

Northern Africa is a geographical region that broadly consists of the countries of the African Transverse, which are Algeria, Libya, Egypt, Tunisia, Morocco, and Western Sahara. Sometimes, it may also include Sudan, South Sudan, and Mauritania. This region is characterized by its proximity to the Mediterranean Sea and the Atlas Mountains, as well as its unique cultural and historical heritage. Northern Africa has a diverse climate, with a hot, dry desert climate in the interior and a milder, wetter climate along the coasts. The major languages spoken in this region include Arabic, Berber, and French.

Human chromosome pair 16 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure called a chromatin.

Chromosomes come in pairs, with one chromosome inherited from each parent. Chromosome pair 16 contains two homologous chromosomes, which are similar in size, shape, and genetic content but may have slight variations due to differences in the DNA sequences inherited from each parent.

Chromosome pair 16 is one of the 22 autosomal pairs, meaning it contains non-sex chromosomes that are present in both males and females. Chromosome 16 is a medium-sized chromosome, and it contains around 2,800 genes that provide instructions for making proteins and regulating various cellular processes.

Abnormalities in chromosome pair 16 can lead to genetic disorders such as chronic myeloid leukemia, some forms of mental retardation, and other developmental abnormalities.

The term "Arabs" is a cultural and linguistic designation, rather than a racial or genetic one. It refers to individuals who speak Arabic as their native language and share a common cultural and historical heritage that is rooted in the Arabian Peninsula. The Arabic language and culture have spread throughout North Africa, the Middle East, and other parts of the world through conquest, trade, and migration over many centuries.

It's important to note that there is significant genetic diversity within the Arab population, just as there is in any large and geographically dispersed group of people. Therefore, it would not be accurate or appropriate to use the term "Arabs" to make assumptions about an individual's genetic background or ancestry.

In medical contexts, it is more appropriate to use specific geographic or ethnic designations (such as "Saudi Arabian," "Lebanese," "North African," etc.) rather than the broad cultural label of "Arab." This can help ensure greater accuracy and precision in describing a patient's background and health risks.

Abdominal pain is defined as discomfort or painful sensation in the abdomen. The abdomen is the region of the body between the chest and the pelvis, and contains many important organs such as the stomach, small intestine, large intestine, liver, gallbladder, pancreas, and spleen. Abdominal pain can vary in intensity from mild to severe, and can be acute or chronic depending on the underlying cause.

Abdominal pain can have many different causes, ranging from benign conditions such as gastritis, indigestion, or constipation, to more serious conditions such as appendicitis, inflammatory bowel disease, or abdominal aortic aneurysm. The location, quality, and duration of the pain can provide important clues about its cause. For example, sharp, localized pain in the lower right quadrant of the abdomen may indicate appendicitis, while crampy, diffuse pain in the lower abdomen may suggest irritable bowel syndrome.

It is important to seek medical attention if you experience severe or persistent abdominal pain, especially if it is accompanied by other symptoms such as fever, vomiting, or bloody stools. A thorough physical examination, including a careful history and a focused abdominal exam, can help diagnose the underlying cause of the pain and guide appropriate treatment.

Fever, also known as pyrexia or febrile response, is a common medical sign characterized by an elevation in core body temperature above the normal range of 36.5-37.5°C (97.7-99.5°F) due to a dysregulation of the body's thermoregulatory system. It is often a response to an infection, inflammation, or other underlying medical conditions, and it serves as a part of the immune system's effort to combat the invading pathogens or to repair damaged tissues.

Fevers can be classified based on their magnitude:

* Low-grade fever: 37.5-38°C (99.5-100.4°F)
* Moderate fever: 38-39°C (100.4-102.2°F)
* High-grade or severe fever: above 39°C (102.2°F)

It is important to note that a single elevated temperature reading does not necessarily indicate the presence of a fever, as body temperature can fluctuate throughout the day and can be influenced by various factors such as physical activity, environmental conditions, and the menstrual cycle in females. The diagnosis of fever typically requires the confirmation of an elevated core body temperature on at least two occasions or a consistently high temperature over a period of time.

While fevers are generally considered beneficial in fighting off infections and promoting recovery, extremely high temperatures or prolonged febrile states may necessitate medical intervention to prevent potential complications such as dehydration, seizures, or damage to vital organs.

Familial amyloidosis is a genetic disorder characterized by the buildup of abnormal protein deposits called amyloid fibrils in various tissues and organs throughout the body. These abnormal protein deposits can cause damage to the affected organs, leading to a variety of symptoms.

There are several types of familial amyloidosis, but the most common type is transthyretin-related hereditary amyloidosis (TTR-HA). This form of the disorder is caused by mutations in the TTR gene, which provides instructions for making a protein called transthyretin. Transthyretin is a transport protein that helps move thyroid hormones and vitamin A around the body. In TTR-HA, mutations in the TTR gene cause the transthyretin protein to misfold and form amyloid fibrils.

Symptoms of familial amyloidosis can vary widely depending on which organs are affected. Commonly affected organs include the heart, kidneys, nerves, and gastrointestinal tract. Symptoms may include:

* Heart problems such as arrhythmias (irregular heartbeat), heart failure, or cardiac conduction abnormalities
* Kidney problems such as proteinuria (protein in the urine) or kidney failure
* Nerve damage leading to numbness, tingling, or pain in the hands and feet, or autonomic nervous system dysfunction affecting digestion, bladder function, or blood pressure regulation
* Gastrointestinal problems such as diarrhea, constipation, nausea, vomiting, or abdominal pain

Familial amyloidosis is typically inherited in an autosomal dominant manner, meaning that a child has a 50% chance of inheriting the mutated gene from a parent with the disorder. However, some cases may be due to new (de novo) mutations and occur in people without a family history of the disorder.

Diagnosis of familial amyloidosis typically involves a combination of clinical evaluation, genetic testing, and tissue biopsy to confirm the presence of amyloid fibrils. Treatment may involve medications to manage symptoms, as well as liver transplantation or other experimental therapies aimed at reducing the production of abnormal proteins that form amyloid fibrils.

I'm sorry for any confusion, but "Turkey" is not a medical term. It is a common name for the country located in Eastern Europe and Western Asia, as well as a type of large bird native to North America that is often eaten as a holiday meal. If you have any questions about medical terminology or health-related topics, I'd be happy to try and help answer them!

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

Tubulin modulators are a class of drugs that target and alter the function or structure of tubulin, which is a key component of microtubules in cells. These drugs can either stabilize or destabilize microtubules by interacting with tubulin, leading to various effects on cell division and other processes that rely on microtubule dynamics.

There are two main types of tubulin modulators:

1. Microtubule stabilizers: These drugs promote the assembly and stability of microtubules by binding to tubulin, preventing its disassembly. Examples include taxanes (e.g., paclitaxel) and vinca alkaloids (e.g., vinblastine). They are primarily used as anticancer agents because they interfere with the division of cancer cells.
2. Microtubule destabilizers: These drugs inhibit the formation and stability of microtubules by binding to tubulin, promoting its disassembly. Examples include colchicine, vinca alkaloids (e.g., vinorelbine), and combretastatins. They can also be used as anticancer agents because they disrupt the mitotic spindle during cell division, leading to cancer cell death.

Tubulin modulators have various other effects on cells beyond their impact on microtubules, such as interfering with intracellular transport and signaling pathways. These diverse actions contribute to their therapeutic potential in treating diseases like cancer, but they can also lead to side effects that limit their clinical use.

Serum Amyloid A (SAA) protein is an acute phase protein produced primarily in the liver, although it can also be produced by other cells in response to inflammation. It is a member of the apolipoprotein family and is found in high-density lipoproteins (HDL) in the blood. SAA protein levels increase rapidly during the acute phase response to infection, trauma, or tissue damage, making it a useful biomarker for inflammation.

In addition to its role as an acute phase protein, SAA has been implicated in several disease processes, including atherosclerosis and amyloidosis. In amyloidosis, SAA can form insoluble fibrils that deposit in various tissues, leading to organ dysfunction. There are four subtypes of SAA in humans (SAA1, SAA2, SAA3, and SAA4), with SAA1 and SAA2 being the most responsive to inflammatory stimuli.

A heterozygote is an individual who has inherited two different alleles (versions) of a particular gene, one from each parent. This means that the individual's genotype for that gene contains both a dominant and a recessive allele. The dominant allele will be expressed phenotypically (outwardly visible), while the recessive allele may or may not have any effect on the individual's observable traits, depending on the specific gene and its function. Heterozygotes are often represented as 'Aa', where 'A' is the dominant allele and 'a' is the recessive allele.

A homozygote is an individual who has inherited the same allele (version of a gene) from both parents and therefore possesses two identical copies of that allele at a specific genetic locus. This can result in either having two dominant alleles (homozygous dominant) or two recessive alleles (homozygous recessive). In contrast, a heterozygote has inherited different alleles from each parent for a particular gene.

The term "homozygote" is used in genetics to describe the genetic makeup of an individual at a specific locus on their chromosomes. Homozygosity can play a significant role in determining an individual's phenotype (observable traits), as having two identical alleles can strengthen the expression of certain characteristics compared to having just one dominant and one recessive allele.

Cryopyrin-Associated Periodic Syndromes (CAPS) are a group of rare, hereditary autoinflammatory disorders caused by mutations in the NLRP3 gene, which encodes the cryopyrin protein. The mutation leads to overactivation of the inflammasome, an intracellular complex that regulates the activation of inflammatory cytokines, resulting in uncontrolled inflammation.

CAPS include three clinical subtypes:

1. Familial Cold Autoinflammatory Syndrome (FCAS): This is the mildest form of CAPS and typically presents in infancy or early childhood with recurrent episodes of fever, urticaria-like rash, and joint pain triggered by cold exposure.
2. Muckle-Wells Syndrome (MWS): This subtype is characterized by more severe symptoms than FCAS, including recurrent fever, urticaria-like rash, joint pain, and progressive hearing loss. Patients with MWS are also at risk for developing amyloidosis, a serious complication that can lead to kidney failure.
3. Neonatal-Onset Multisystem Inflammatory Disease (NOMID): Also known as chronic infantile neurological cutaneous and articular syndrome (CINCA), this is the most severe form of CAPS. It presents at birth or in early infancy with fever, urticaria-like rash, joint inflammation, and central nervous system involvement, including chronic meningitis, developmental delay, and hearing loss.

Treatment for CAPS typically involves targeted therapies that block the overactive inflammasome, such as IL-1 inhibitors. Early diagnosis and treatment can help prevent long-term complications and improve quality of life for patients with these disorders.

Proteins are complex, large molecules that play critical roles in the body's functions. They are made up of amino acids, which are organic compounds that are the building blocks of proteins. Proteins are required for the structure, function, and regulation of the body's tissues and organs. They are essential for the growth, repair, and maintenance of body tissues, and they play a crucial role in many biological processes, including metabolism, immune response, and cellular signaling. Proteins can be classified into different types based on their structure and function, such as enzymes, hormones, antibodies, and structural proteins. They are found in various foods, especially animal-derived products like meat, dairy, and eggs, as well as plant-based sources like beans, nuts, and grains.

Sacroiliitis is a medical condition characterized by inflammation of one or both of the sacroiliac joints, which connect the spine's sacrum to the hip bones (ilium). This inflammation can cause pain in the lower back, hips, and legs, and may be accompanied by stiffness and difficulty walking. Sacroiliitis can be caused by various factors, including mechanical stress, trauma, infectious diseases, or underlying inflammatory conditions such as ankylosing spondylitis. The diagnosis of sacroiliitis typically involves a combination of physical examination, medical history, imaging studies, and laboratory tests to determine the underlying cause and appropriate treatment.

I'm sorry for any confusion, but "Israel" is not a medical term. It is a country located in the Middle East. If you have any medical questions or terms you would like defined, I would be happy to help!

Immunoglobulin D (IgD) is a type of antibody that is present in the blood and other bodily fluids. It is one of the five classes of immunoglobulins (IgA, IgD, IgE, IgG, and IgM) found in humans and plays a role in the immune response.

IgD is produced by B cells, a type of white blood cell that is responsible for producing antibodies. It is primarily found on the surface of mature B cells, where it functions as a receptor for antigens (foreign substances that trigger an immune response). When an antigen binds to IgD on the surface of a B cell, it activates the B cell and stimulates it to produce and secrete antibodies specific to that antigen.

IgD is found in relatively low concentrations in the blood compared to other immunoglobulins, and its precise functions are not fully understood. However, it is thought to play a role in the regulation of B cell activation and the immune response. Additionally, some research suggests that IgD may have a direct role in protecting against certain types of infections.

It's worth noting that genetic deficiencies in IgD are not typically associated with any significant immunological abnormalities or increased susceptibility to infection.

Pericarditis is a medical condition characterized by inflammation of the pericardium, which is the thin sac-like membrane that surrounds the heart and contains serous fluid to reduce friction during heartbeats. The inflammation can cause symptoms such as chest pain, shortness of breath, and sometimes fever.

The pericardium has two layers: the visceral pericardium, which is tightly adhered to the heart's surface, and the parietal pericardium, which lines the inner surface of the chest cavity. Normally, there is a small amount of fluid between these two layers, allowing for smooth movement of the heart within the chest cavity.

In pericarditis, the inflammation causes the pericardial layers to become irritated and swollen, leading to an accumulation of excess fluid in the pericardial space. This can result in a condition called pericardial effusion, which can further complicate the situation by putting pressure on the heart and impairing its function.

Pericarditis may be caused by various factors, including viral or bacterial infections, autoimmune disorders, heart attacks, trauma, or cancer. Treatment typically involves addressing the underlying cause, managing symptoms, and reducing inflammation with medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), colchicine, or corticosteroids. In severe cases, pericardiocentesis (removal of excess fluid from the pericardial space) or surgical intervention may be necessary.

Blood sedimentation, also known as erythrocyte sedimentation rate (ESR), is a medical test that measures the rate at which red blood cells settle at the bottom of a tube of unclotted blood over a specific period of time. The test is used to detect and monitor inflammation in the body.

During an acute inflammatory response, certain proteins in the blood, such as fibrinogen, increase in concentration. These proteins cause red blood cells to stick together and form rouleaux (stacks of disc-shaped cells). As a result, the red blood cells settle more quickly, leading to a higher ESR.

The ESR test is a non-specific test, meaning that it does not identify the specific cause of inflammation. However, it can be used as an indicator of underlying conditions such as infections, autoimmune diseases, and cancer. The test is also used to monitor the effectiveness of treatment for these conditions.

The ESR test is usually performed by drawing a sample of blood into a special tube and allowing it to sit undisturbed for one hour. The distance that the red blood cells have settled is then measured and recorded as the ESR. Normal values for ESR vary depending on age and gender, with higher values indicating greater inflammation.

Consanguinity is a medical and genetic term that refers to the degree of genetic relationship between two individuals who share common ancestors. Consanguineous relationships exist when people are related by blood, through a common ancestor or siblings who have children together. The closer the relationship between the two individuals, the higher the degree of consanguinity.

The degree of consanguinity is typically expressed as a percentage or fraction, with higher values indicating a closer genetic relationship. For example, first-degree relatives, such as parents and children or full siblings, share approximately 50% of their genes and have a consanguinity coefficient of 0.25 (or 25%).

Consanguinity can increase the risk of certain genetic disorders and birth defects in offspring due to the increased likelihood of sharing harmful recessive genes. The risks depend on the degree of consanguinity, with closer relationships carrying higher risks. It is important for individuals who are planning to have children and have a history of consanguinity to consider genetic counseling and testing to assess their risk of passing on genetic disorders.

Interleukin-1 Receptor Antagonist Protein (IL-1Ra) is a naturally occurring protein that acts as a competitive inhibitor of the interleukin-1 (IL-1) receptor. IL-1 is a pro-inflammatory cytokine involved in various physiological processes, including the immune response and inflammation. The binding of IL-1 to its receptor triggers a signaling cascade that leads to the activation of inflammatory genes and cellular responses.

IL-1Ra shares structural similarities with IL-1 but does not initiate the downstream signaling pathway. Instead, it binds to the same receptor site as IL-1, preventing IL-1 from interacting with its receptor and thus inhibiting the inflammatory response.

Increased levels of IL-1Ra have been found in various inflammatory conditions, such as rheumatoid arthritis, inflammatory bowel disease, and sepsis, where it acts to counterbalance the pro-inflammatory effects of IL-1. Recombinant IL-1Ra (Anakinra) is used clinically as a therapeutic agent for the treatment of rheumatoid arthritis and other inflammatory diseases.

Caspase-1 is a type of protease enzyme that plays a crucial role in the inflammatory response and programmed cell death, also known as apoptosis. It is produced as an inactive precursor protein, which is then cleaved into its active form by other proteases or through self-cleavage.

Once activated, caspase-1 helps to process and activate several pro-inflammatory cytokines, such as interleukin (IL)-1β and IL-18, which are involved in the recruitment of immune cells to sites of infection or tissue damage. Caspase-1 also contributes to programmed cell death by cleaving and activating other caspases, leading to the controlled destruction of the cell.

Dysregulation of caspase-1 has been implicated in various inflammatory diseases, such as autoimmune disorders and neurodegenerative conditions. Therefore, understanding the mechanisms that regulate caspase-1 activity is an important area of research for developing new therapeutic strategies to treat these diseases.

DNA Mutational Analysis is a laboratory test used to identify genetic variations or changes (mutations) in the DNA sequence of a gene. This type of analysis can be used to diagnose genetic disorders, predict the risk of developing certain diseases, determine the most effective treatment for cancer, or assess the likelihood of passing on an inherited condition to offspring.

The test involves extracting DNA from a patient's sample (such as blood, saliva, or tissue), amplifying specific regions of interest using polymerase chain reaction (PCR), and then sequencing those regions to determine the precise order of nucleotide bases in the DNA molecule. The resulting sequence is then compared to reference sequences to identify any variations or mutations that may be present.

DNA Mutational Analysis can detect a wide range of genetic changes, including single-nucleotide polymorphisms (SNPs), insertions, deletions, duplications, and rearrangements. The test is often used in conjunction with other diagnostic tests and clinical evaluations to provide a comprehensive assessment of a patient's genetic profile.

It is important to note that not all mutations are pathogenic or associated with disease, and the interpretation of DNA Mutational Analysis results requires careful consideration of the patient's medical history, family history, and other relevant factors.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

The "age of onset" is a medical term that refers to the age at which an individual first develops or displays symptoms of a particular disease, disorder, or condition. It can be used to describe various medical conditions, including both physical and mental health disorders. The age of onset can have implications for prognosis, treatment approaches, and potential causes of the condition. In some cases, early onset may indicate a more severe or progressive course of the disease, while late-onset symptoms might be associated with different underlying factors or etiologies. It is essential to provide accurate and precise information regarding the age of onset when discussing a patient's medical history and treatment plan.

Serositis is a medical term that refers to inflammation of the serous membranes, which are thin layers of tissue that line the inner surfaces of body cavities and surround organs such as the heart, lungs, and abdomen. The serous membranes produce a lubricating fluid called serous fluid that helps reduce friction between internal organs and enables them to move smoothly against each other.

Inflammation of these membranes can result in excessive production of serous fluid, leading to the accumulation of fluid in the surrounding body cavities. This accumulation can cause symptoms such as chest pain, coughing, difficulty breathing, or abdominal swelling and discomfort.

Serositis is often associated with various medical conditions, including autoimmune diseases like rheumatoid arthritis, lupus, and Sjogren's syndrome. Infections, cancers, and certain medications may also cause serositis. Treatment typically involves addressing the underlying condition causing the inflammation and managing symptoms with medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids, or immunosuppressive agents.

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.

... (FMF) is a hereditary inflammatory disorder.: 149 FMF is an autoinflammatory disease caused by ... Note that "periodic fever" can also refer to any of the periodic fever syndromes. There are seven types of attacks. Ninety ... mutations in Mediterranean fever gene, which encodes a 781-amino acid protein called pyrin. While all ethnic groups are ... Most attacks involve fever. Abdominal attacks, featuring abdominal pain, affect the whole abdomen with all signs of peritonitis ...
Lachmannn HJ (2015-03-19). "Long-Term Complications of Familial Mediterranean Fever". Familial Mediterranean Fever. Springer. ... Chronic infections Tuberculosis Bronchiectasis Chronic osteomyelitis Autoinflammatory diseases Familial Mediterranean fever ( ...
Familial Mediterranean Fever. For some patients with FMF, episodes of knee or joint inflammation may be the only presenting ... specific association with the Mediterranean fever gene, MEFV, has been proposed. So, with some individuals carrying gene ... Fever is rare. There no signs of local inflammation or lymphatic involvement. Laboratory tests are generally normal or within ...
Fever and inflammation in the abdomen, chest, joints, or skin are signs of familial Mediterranean fever. Pyrin forms an ... More than 80 MEFV mutations that cause familial Mediterranean fever have been identified. A few mutations delete small amounts ... Telatar M, Grody WW (2000). "Molecular genetic testing for familial Mediterranean fever". Molecular Genetics and Metabolism. 71 ... Bakkaloglu A (Sep 2003). "Familial Mediterranean fever". Pediatric Nephrology. 18 (9): 853-9. doi:10.1007/s00467-003-1185-2. ...
French Fmf, Consortium (Oct 1997). "A candidate gene for familial Mediterranean fever". Nat Genet. 17 (1): 25-31. doi:10.1038/ ...
In Familial Mediterranean fever (FMF), a mutation in the pyrin (or marenostrin) gene, which is expressed mainly in neutrophil ... Ozen S (July 2003). "Familial mediterranean fever: revisiting an ancient disease". European Journal of Pediatrics. 162 (7-8): ... ANC is the gold standard for determining severity of neutropenia, and thus neutropenic fever. Any ANC < 1500 cells / mm3 is ... granulocytes, leads to a constitutively active acute-phase response and causes attacks of fever, arthralgia, peritonitis, and ...
"A candidate gene for familial Mediterranean fever". Nature Genetics. 17 (1): 25-31. doi:10.1038/ng0997-25. ISSN 1546-1718. PMID ... pathophysiology and therapeutic response of Familial Mediterranean fever (FMF) and Behçet's disease (BD) and other ... "Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes". New England Journal of Medicine. 378 (20): 1908- ...
"Clinical disease among patients heterozygous for familial Mediterranean fever". Arthritis and Rheumatism. 60 (6): 1862-6. doi: ... Type III is familial dysautonomia or Riley-Day syndrome. It is multisystemic and affects mainly Ashkenazi Jews. Shugart YY, ... Familial dysautonomia (Riley-Day syndrome), which causes vomiting, speech problems, an inability to cry, and false sensory ... "Ashkenazi Disorders: Mendelian - Familial dysautonomia". The Chicago Center for Jewish Genetic Disorders. about one in 30 ...
It is similar to familial Mediterranean fever in humans. The cause is unknown, but it is thought to be inherited. Shar Pei ... Shar Pei fever (also called familial Shar Pei fever or FSF) is a condition seen in Shar Pei characterized by recurring fever ... The symptoms of Shar Pei fever include fever, swelling, and pain in the hocks that usually resolves within two days. The ... Prevention of amyloidosis is sometimes used in dogs with recurring episodes of Shar Pei fever. Colchicine and dimethyl ...
Khachadurian AK, Armenian HK: The Management of Familial Paroxysmal Polyserositis (Familial Mediterranean Fever). Experience ... Prevention of Amyloidosis in Familial Mediterranean Fever with Colchicine. A Case-Control Study in Armenia. Medical Principles ... Triggers for Attacks in Familial Mediterranean Fever: application of the Case-Crossover Design. American Journal of ... Familial aggregation of fainting in a case-control study of neurally mediated hypotension patients who present with unexplained ...
"Learning About Familial Mediterranean Fever", National Human Genome Research Institute". Genome.gov. November 17, 2011. ... such as sarcoidosis or familial Mediterranean fever. Academic medical centers have noted that neither of those diseases is ...
It is also used in the treatment of familial Mediterranean fever, in which it reduces attacks and the long-term risk of ... URL Pharma also received seven years of market exclusivity for Colcrys in the treatment of familial Mediterranean fever, under ... Other uses for colchicine include the management of pericarditis and familial Mediterranean fever. Colchicine is taken by mouth ... familial Mediterranean fever, acute gout flares, and for the prophylaxis of gout flares), and gave URL Pharma a three-year ...
Defects in this gene have also been linked to familial Mediterranean fever. In addition, the NLRP3 inflammasome has a role in ... This includes familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), chronic infantile neurological ... "Identification of a locus on chromosome 1q44 for familial cold urticaria". American Journal of Human Genetics. 66 (5): 1693-8. ...
... the familial Mediterranean fever gene product". Biochem. Biophys. Res. Commun. 302 (3): 575-80. doi:10.1016/S0006-291X(03)00221 ...
... the familial Mediterranean fever gene product". Biochemical and Biophysical Research Communications. 302 (3): 575-580. doi: ...
... the familial Mediterranean fever gene product". Biochem. Biophys. Res. Commun. 302 (3): 575-80. doi:10.1016/S0006-291X(03)00221 ...
2000). "The familial mediterranean fever protein interacts and colocalizes with a putative Golgi transporter". Proc. Soc. Exp. ...
... or etiocholanolone fever), a condiditon similar to familial mediterranean fever (FMF). Etiocholanolone (like pregnanolone) ... April 2013). "The factors considered as trigger for the attacks in patients with familial Mediterranean fever". Rheumatology ... "The relations between attacks and menstrual periods and pregnancies of familial Mediterranean fever patients". Rheumatology ... It causes fever, immunostimulation, and leukocytosis, and is used to evaluate adrenal cortex function, bone marrow performance ...
Their son suffers from Familial Mediterranean fever since birth, and is waiting[as of?] for an intestinal transplant. They had ...
Colchicine is approved in many countries for the treatment of gout and familial Mediterranean fever. Colchicine is also used in ...
... genotypes in patients with familial Mediterranean fever". Genetic Testing and Molecular Biomarkers. 13 (1): 91-5. doi:10.1089/ ...
The mutation of the MEFV gene is the cause of the disease known as Familial Mediterranean Fever. The domain is encoded in 23 ...
700-kb Transcript Map Around the Familial Mediterranean Fever Locus on Human Chromosome 16p13.3". Genome Res. 8 (11): 1172-91. ...
Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same ... protein is part of an inflammatory pathway associated with other autoinflammatory diseases such as familial Mediterranean fever ... and familial cold urticaria. Clinical features along with the familial tendency may be enough to make a diagnosis. Genetic ... Localization of a gene for familial recurrent arthritis. Arthritis Rheum. 2000 Sep; 43(9):2041-5. Wise CA, Gillum JD, Seidman ...
... defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway". Proc. Natl. Acad. Sci. U.S.A. 100 ( ...
A SCS may also be used for other chronic pain conditions such as chronic pancreatitis and familial Mediterranean fever. Other ...
Much rarer non-infectious causes may include familial Mediterranean fever, TNF receptor associated periodic syndrome, porphyria ... Symptoms may include severe pain, swelling of the abdomen, fever, or weight loss. One part or the entire abdomen may be tender ... Diffuse abdominal rigidity (abdominal guarding) is often present, especially in generalized peritonitis Fever Sinus tachycardia ...
Koshy R, Sivadas A, Scaria V (January 2018). "Genetic epidemiology of familial Mediterranean fever through integrative analysis ... including Familial Mediterranean Fever. His lab also created one of the largest and comprehensive allele frequency resource for ...
... and familial Mediterranean fever. People undergoing long-term hemodialysis (14-15 years) can develop amyloidosis from ... It may be either age related in wild-type ATTR (ATTRv) or familial transthyretin-associated amyloidosis, is suspected in people ... Cochrane Neuromuscular Group) (April 2020). "Pharmacological treatment for familial amyloid polyneuropathy". The Cochrane ... familial, and localized amyloidosis. The modern era of amyloidosis classification began in the late 1960s with the development ...
"The M694V variant of the familial Mediterranean fever gene is associated with sporadic early-onset Alzheimer's disease in an ...
Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder.: 149 FMF is an autoinflammatory disease caused by ... Note that "periodic fever" can also refer to any of the periodic fever syndromes. There are seven types of attacks. Ninety ... mutations in Mediterranean fever gene, which encodes a 781-amino acid protein called pyrin. While all ethnic groups are ... Most attacks involve fever. Abdominal attacks, featuring abdominal pain, affect the whole abdomen with all signs of peritonitis ...
It involves repeated fevers and inflammation that often affects the lining of the abdomen, chest, or joints. ... Familial Mediterranean fever (FMF) is a rare disorder passed down through families (inherited). ... Familial Mediterranean fever (FMF) is a rare disorder passed down through families (inherited). It involves repeated fevers and ... Shohat M. Familial Mediterranean fever. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, eds. ...
Familial Mediterranean fever (FMF) is also called recurrent polyserositis. The salient features of FMF include brief recurrent ... episodes of peritonitis, pleuritis, and arthritis, usually with accompanying fever. ... encoded search term (Familial Mediterranean Fever) and Familial Mediterranean Fever What to Read Next on Medscape ... Not easy-peasy to diagnose: familial Mediterranean fever unaccompanied by fever. Eur J Pediatr. 2023 Jun 29. 251:109630. [QxMD ...
Full Papers; Authors: Eldad Ben-Chetrit
... characterized by severe crippling myalgia and high fever. We describe a 14-year-old boy who presented with fever, abdominal ... The diagnosis of PFM was considered based on the presence of fever, paralyzing myalgia with normal CPK, elevated CRP and ESR. ... is a rare form of vasculitic disease which is an uncommon dramatic manifestation of familial Mediterranean fever (FMF), ... Protracted Febrile Myalgia in a Child as the Presenting Sign of Familial Mediterranean Fever: Case Report and Review of the ...
Familial mediterranean fever epidemiology and demographics ‎ (← links). *Familial mediterranean fever risk factors ‎ (← links) ... Familial Mediterranean fever history and symptoms ‎ (← links). *Familial Mediterranean fever diagnostic study of choice ‎ (← ... Familial mediterranean fever future or investigational therapies ‎ (← links). *Familial mediterranean fever case study one ‎ ( ... Familial mediterranean fever laboratory Findings ‎ (← links). *Familial mediterranean fever diagnostic study of choice ‎ (← ...
Familial Mediterranean Fever Market: Epidemiology, Industry Trends, Share, Size, Growth, Opportunity, and Forecast 2023-2033. ... The familial Mediterranean fever market has been comprehensively analyzed in IMARCs new report titled ... Familial Mediterranean Fever Market: Epidemiology, Industry Trends, Share, Size, Growth, Opportunity, and Forecast 2024-2034 ...
Brought to you by Merck & Co, Inc., Rahway, NJ, USA (known as MSD outside the US and Canada)-dedicated to using leading-edge science to save and improve lives around the world. Learn more about the MSD Manuals and our commitment to Global Medical Knowledge.. ...
Familial Mediterranean Fever (FMF) is the most common monogenic auto-inflammatory disease [1]. Patients display attacks ... Identification of factors for persistence of AA amyloidosis in patients with Familial Mediterranean Fever. ... associating recurrent fever, arthritis, serositis and skin manifestations [1]. The discovery of the MEFV gene associated with ...
Defects in MEFV are the cause of familial mediterranean fever. Familial mediterranean fever is an autosomal recessive inherited ... Familial mediterranean fever primarily affects ethnic groups living around the mediterranean basin north-african jews, ... IDR factfile for Hyperimmunoglobulinemia D with periodic fever syndrome. IDR factfile for Tumor necrosis factor receptor- ... disorder characterized by recurrent episodic fever, serosal inflammation and pain in the abdomen, chest or joints. It is ...
... a 501(c)(3) public charity. The contents of this website may not be copied or ...
Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and ... Familial Mediterranean fever. Synonyms: Benign paroxysmal peritonitis , Benign recurrent polyserositis , FMF , Familial ... Familial Mediterranean fever?. Our RARE Concierge Services Guides are available to assist you by providing information, ... Familial Mediterranean fever. Get in touch with RARE Concierge.. Contact RARE Concierge ...
Familial Mediterranean Fever - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the MSD Manuals - Medical ... for the Diagnosis of Familial Mediterranean Fever Tel HaShomer Criteria for the Diagnosis of Familial Mediterranean Fever* ; 1 ... Familial Mediterranean fever is an autosomal recessive disorder characterized by recurrent bouts of fever and peritonitis ... Familial Mediterranean fever (FMF) is a disease of people with genetic origins in the Mediterranean basin, predominantly ...
Specific changes in faecal microbiota are associated with familial mediterranean fever. [2019] [Annals of the Rheumatic ... www.metabiom.org/disease/333/familial-mediterranean-fever. Keywords: Microbiome, Dysbiosis, Chronic ...
Familial Mediterranean Fever Foundation. a 501(c)(3) public charity. The contents of this website may not be copied or ...
One such association, the co-existence of Familial Mediterranean Fever (FMF) and axial spondyloarthritis (axSpA), remains rare ... An educational site for Physicians and Patients with Stills disease (systemic juvenile idiopathic arthritis), periodic fever ...
Access to Familial Mediterranean Fever (MEFV) Gene Mutation Analysis is restricted. Sign up now. ... Access to Familial Mediterranean Fever (MEFV) Gene Mutation Analysis is restricted. Sign up now. ... Access to Familial Mediterranean Fever (MEFV) Gene Mutation Analysis is restricted. Sign up now. ... Access to Familial Mediterranean Fever (MEFV) Gene Mutation Analysis is restricted. Sign up now. ...
Familial Mediterranean Fever (FMF) is an autoinflammatory disease characterized by recurrent attacks of fever and serositis. ... The Predominant Attack Type and Associated Clinical-Laboratory Conditions in Patients with Familial Mediterranean Fever. ...
1.2 Familial Mediterranean Fever (FMF) 2 DOSAGE AND ADMINISTRATION 2.1 Gout Flares 2.2 FMF 2.3 Recommended Pediatric Dosage 2.4 ... 1.2 Familial Mediterranean Fever (FMF). Colchicine tablets are indicated in adults and children four years or older for ... Familial Mediterranean fever (FMF) in adults and children 4 years or older (1.2). ... treat familial Mediterranean fever (FMF) in adults and children age 4 or older ...
Leukocyte chemotaxis in recurrent polyserositis (familial Mediterranean fever). / Bar-Eli, M.; Ehrenfeld, M.; Levy, M. et al. ... Leukocyte chemotaxis in recurrent polyserositis (familial Mediterranean fever). M. Bar-Eli, M. Ehrenfeld, M. Levy, R. Gallily, ... Leukocyte chemotaxis in recurrent polyserositis (familial Mediterranean fever). In: Unknown Journal. 1981 ; Vol. 281, No. 1. pp ... Dive into the research topics of Leukocyte chemotaxis in recurrent polyserositis (familial Mediterranean fever). Together ...
Although colchicines are the only effective treatment of familial Mediterranean fever (FMF), resistance to colchicines (CR) ... Keywords: Colchicines, vitamin D, familial Mediterranean fever, resistance to colchicines, FMF, AMYLOIDOSIS ...
... familial Mediterranean fever, late ventricular potentials, signal averaged ECG, electrocardiography, colchicine ... Keywords : AA Amyloidosis, familial Mediterranean fever, late ventricular potentials, signal averaged ECG, electrocardiography ... Objective: Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by episodic and chronic ... Cite this article as: Nussinovitch U, Livneh A. Late ventricular potentials in familial Mediterranean fever with and without AA ...
Gidron Y, Berkovitch M, Press J. Psychosocial correlates of incidence of attacks in children with Familial Mediterranean Fever ... keywords = "Children, Familial Mediterranean Fever, Hostility, Psychosocial correlates",. author = "Yori Gidron and Matityahu ... Psychosocial correlates of incidence of attacks in children with Familial Mediterranean Fever. / Gidron, Yori; Berkovitch, ... Psychosocial correlates of incidence of attacks in children with Familial Mediterranean Fever. In: Journal of Behavioral ...
The factors considered as trigger for the attacks in patients with familial Mediterranean fever ... Although the inflammatory cascade of familial Mediterranean fever (FMF) is partially understood, triggering factors of those ...
  • The disorder has been given various names, including familial paroxysmal polyserositis, periodic peritonitis, recurrent polyserositis, benign paroxysmal peritonitis, periodic disease or periodic fever, Reimann periodic disease or Reimann syndrome, Siegal-Cattan-Mamou disease, and Wolff periodic disease. (wikipedia.org)
  • Familial Mediterranean fever (FMF), also known as recurrent polyserositis, is an autosomal recessive autoinflammatory disorder characterized mainly by brief recurrent episodes of peritonitis, pleuritis, and arthritis, usually with accompanying fever. (medscape.com)
  • Nonsense or missense mutations in the MEFV (Mediterranean fever) gene appear to cause the disease in many cases. (medscape.com)
  • Defects in MEFV are the cause of familial mediterranean fever. (lu.se)
  • Access to Familial Mediterranean Fever (MEFV) Gene Mutation Analysis is restricted. (medicaldatabase.com)
  • MEditerranean FeVer (MEFV) gene frequency and the prevalence of heterozygous carriers of one of MEFV mutation in Armenian population are rather high: 0.21 (1:5). (pdfslide.net)
  • Typical clinical manifestations are self -limiting attacks of recurrent fever , abdominal pain , arthralgia , and chest pain due to aseptic polyserositis. (bvsalud.org)
  • in familial Mediterranean fever (FMF) colchicine remains the first choice. (nih.gov)
  • Colchicine to treat gout or familial Mediterranean fever. (who.int)
  • Etiology references Familial Mediterranean fever is an autosomal recessive disorder characterized by recurrent bouts of fever and peritonitis, sometimes with pleuritis, skin lesions, arthritis, and, rarely, pericarditis. (msdmanuals.com)
  • Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder. (wikipedia.org)
  • Familial Mediterranean Fever (FMF) is the most common monogenic auto-inflammatory disease [1]. (efim.org)
  • Although the inflammatory cascade of familial Mediterranean fever (FMF) is partially understood, triggering factors of those attacks has not been studied well. (gazi.edu.tr)
  • Objectives Familial Mediterranean fever (FMF) and systemic juvenile idiopathic arthritis (sJIA) are chronic inflammatory diseases and anti-inflammatory agents are used in their treatment. (ogu.edu.tr)
  • Familial mediterranean fever is an autosomal recessive inherited disorder characterized by recurrent episodic fever, serosal inflammation and pain in the abdomen, chest or joints. (lu.se)
  • Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen chest joints and muscles. (globalgenes.org)
  • Background/Purpose: Familial Mediterranean Fever (FMF) is an autoinflammatory disease characterized by recurrent attacks of fever and serositis. (acrabstracts.org)
  • Familial Mediterranean Fever (FMF), also inherited with autosomal recessive trait, is characterized by recurrent episodes of fever, arthritis, and serositis. (balkanmedicaljournal.org)
  • Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by episodic and chronic inflammation that may lead to both accelerated coronary atherosclerosis and cardiac AA amyloidosis. (eurjrheumatol.org)
  • Familial Mediterranean fever (FMF) is an autosomal recessive disorder. (bvsalud.org)
  • Congenital Byler Syndrome (Progressive Familial Intrahepatic Cholestasis) inherited with autosomal recessive trait and characterized by defective secretion of bile acids. (balkanmedicaljournal.org)
  • 149 FMF is an autoinflammatory disease caused by mutations in Mediterranean fever gene, which encodes a 781-amino acid protein called pyrin. (wikipedia.org)
  • Familial Mediterranean fever (FMF) is a disease of people with genetic origins in the Mediterranean basin, predominantly Sephardic Jews, North African Arabs, Armenians, Turks, Greeks, and Italians. (msdmanuals.com)
  • Familial Mediterranean fever (FMF) is a rare disorder passed down through families (inherited). (medlineplus.gov)
  • Hereditary periodic fever syndromes and other systemic autoinflammatory diseases. (medlineplus.gov)
  • Some of these disorders present without fever but with the associated systemic manifestations. (nih.gov)
  • Most attacks involve fever. (wikipedia.org)
  • Patients display attacks associating recurrent fever, arthritis, serositis and skin manifestations [1]. (efim.org)
  • This study tested the relationship between psychosocial factors and incidence of Familial Mediterranean Fever (FMF) attacks. (haifa.ac.il)
  • Consensus treatment plans for periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome (PFAPA): a framework to evaluate treatment responses from the childhood arthritis and rheumatology research alliance (CARRA) PFAPA work group. (nih.gov)
  • the protein is also called marenostrin (derived from the phrase "our sea," because of the Mediterranean heritage of most patients). (medscape.com)
  • Although colchicines are the only effective treatment of familial Mediterranean fever (FMF), resistance to colchicines (CR) which is observed in up to 30% of the patients is still a problem. (omu.edu.tr)
  • There is a paucity of knowledge regarding the autonomic nervous system function in patients with familial Mediterranean fever (FMF). (tau.ac.il)
  • It involves repeated fevers and inflammation that often affects the lining of the abdomen, chest, or joints. (medlineplus.gov)
  • Inflammation in the lining of the abdominal cavity, chest cavity, skin, or joints occurs along with high fevers that usually peak in 12 to 24 hours. (medlineplus.gov)
  • Note that "periodic fever" can also refer to any of the periodic fever syndromes. (wikipedia.org)
  • Hereditary periodic fever syndromes, also called autoinflammatory syndromes, are characterized by relapsing fever and additional manifestations such as skin rashes, mucosal manifestations, or arthralgias. (nih.gov)
  • The prevalence of Familial Mediterranean. (comu.edu.tr)
  • Familial mediterranean fever primarily affects ethnic groups living around the mediterranean basin north-african jews, armenians, arabs and turks. (lu.se)
  • People with genetic origins in the Mediterranean basin are more frequently affected than other ethnic groups. (msdmanuals.com)
  • Familial Mediterranean fever, children, abdominal and digestive system manifestations, clinical and genetic characteristics. (pdfslide.net)
  • In some cases, a wait-and-see approach is often used for short-term fevers that aren't accompanied by any red flag symptoms. (healthline.com)
  • Familial Mediterranean fever (FMF) in adults and children 4 years or older ( 1.2 ). (nih.gov)
  • Shear wave elastography evaluation of kidneys in children with familial mediterranean fever. (bvsalud.org)
  • Fevers occur commonly in children of all ages, particularly infants and toddlers. (healthline.com)
  • In people with HIV-associated fevers, treatment focuses on treating HIV with antiviral drugs. (healthline.com)
  • Even when a doctor can't determine the cause of the fever at first, a diagnosis is a step toward treating it. (healthline.com)
  • As the name indicates, FMF occurs within families and is most common in individuals of Mediterranean descent. (medscape.com)
  • A fever of unknown origin (FUO) is a fever of at least 101°F (38.3°C) that lasts for more than three weeks or occurs frequently without explanation. (healthline.com)
  • HIV also makes a person susceptible to infections that may cause fevers. (healthline.com)