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Hyperimmunoglobulinemia D With Recurrent Fever
Mevalonate kinase deficiency (MKD) is an autosomal recessive metabolic disorder that disrupts the biosynthesis of cholesterol and isoprenoids. It is a rare genetic disorder, but a high frequency is observed in Northern European regions. Mevalonate kinase (MVK) is an enzyme involved in biosynthesis isoprenoids and is necessary for the conversion of mevalonate to mevalonate-5-phosphate in the presence of . Downstream of this enzyme, mevalonate-5-phosphate is converted into non-sterol ( geranylgeranyl, farnesyl) or sterol isoprenoids ( cholesterol). MKD is due to a pathogenic variants in the gene that encodes mevalonate kinase which results in a reduced or deficient activity of this enzyme. Because of this deficiency, mevalonic acid can build up in the body, with high levels found in the urine. The severity of MKD depends on the level of this deficiency, with hyperimmunoglobulinemia D syndrome (first described as HIDS in 1984) being less severe but more common, and mevaloni ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Immunoglobulin D
Immunoglobulin D (IgD) is an antibody isotype that makes up about 1% of proteins in the plasma membranes of immature B-lymphocytes where it is usually co-expressed with another cell surface antibody called IgM. IgD is also produced in a secreted form that is found in very small amounts in blood serum, representing 0.25% of immunoglobulins in serum. The relative molecular mass and half-life of secreted IgD is 185 kDa and 2.8 days, respectively. Secreted IgD is produced as a monomeric antibody with two heavy chains of the delta (δ) class, and two Ig light chains. Function The function of IgD has been a puzzle in immunology since its discovery in 1964. IgD is present in species from cartilaginous fish to humans (with the possible exception of birds). This nearly ubiquitous appearance in species with an adaptive immune system demonstrates that IgD may be as ancient as IgM and suggests that IgD has important immunological functions. In B cells, the function of IgD is to ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fever Of Unknown Origin
Fever of unknown origin (FUO) refers to a condition in which the patient has an elevated temperature (fever) for which no cause can be found despite investigations by one or more qualified physicians. Mandell's Principles and Practices of Infection Diseases 6th Edition (2004) by Gerald L. Mandell MD, MACP, John E. Bennett MD, Raphael Dolin MD, · Hardback · 4016 Pages Churchill LivingstoneHarrison's Principles of Internal Medicine 16th Edition, The Companies, The Oxford Textbook ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Differential Diagnosis
In healthcare, a differential diagnosis (DDx) is a method of analysis that distinguishes a particular disease or condition from others that present with similar clinical features. Differential diagnostic procedures are used by clinicians to diagnose the specific disease in a patient, or, at least, to consider any imminently life-threatening conditions. Often, each possible disease is called a differential diagnosis (e.g., acute bronchitis could be a differential diagnosis in the evaluation of a cough, even if the final diagnosis is common cold). More generally, a differential diagnostic procedure is a systematic diagnostic method used to identify the presence of a disease entity where multiple alternatives are possible. This method may employ algorithms, akin to the process of elimination, or at least a process of obtaining information that decreases the "probabilities" of candidate conditions to negligible levels, by using evidence such as symptoms, patient history, and medi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
France
France, officially the French Republic, is a country located primarily in Western Europe. Overseas France, Its overseas regions and territories include French Guiana in South America, Saint Pierre and Miquelon in the Atlantic Ocean#North Atlantic, North Atlantic, the French West Indies, and List of islands of France, many islands in Oceania and the Indian Ocean, giving it Exclusive economic zone of France, one of the largest discontiguous exclusive economic zones in the world. Metropolitan France shares borders with Belgium and Luxembourg to the north; Germany to the northeast; Switzerland to the east; Italy and Monaco to the southeast; Andorra and Spain to the south; and a maritime border with the United Kingdom to the northwest. Its metropolitan area extends from the Rhine to the Atlantic Ocean and from the Mediterranean Sea to the English Channel and the North Sea. Its Regions of France, eighteen integral regions—five of which are overseas—span a combined area of and hav ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Netherlands
, Terminology of the Low Countries, informally Holland, is a country in Northwestern Europe, with Caribbean Netherlands, overseas territories in the Caribbean. It is the largest of the four constituent countries of the Kingdom of the Netherlands. The Netherlands consists of Provinces of the Netherlands, twelve provinces; it borders Germany to the east and Belgium to the south, with a North Sea coastline to the north and west. It shares Maritime boundary, maritime borders with the United Kingdom, Germany, and Belgium. The official language is Dutch language, Dutch, with West Frisian language, West Frisian as a secondary official language in the province of Friesland. Dutch, English_language, English, and Papiamento are official in the Caribbean Netherlands, Caribbean territories. The people who are from the Netherlands is often referred to as Dutch people, Dutch Ethnicity, Ethnicity group, not to be confused by the language. ''Netherlands'' literally means "lower countries" i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Erythrocyte Sedimentation Rate
The erythrocyte sedimentation rate (ESR or sed rate) is the rate at which red blood cells in anticoagulated whole blood descend in a standardized tube over a period of one hour. It is a common hematology test, and is a non-specific measure of inflammation. To perform the test, anticoagulated blood is traditionally placed in an upright tube, known as a Westergren tube, and the distance which the red blood cells fall is measured and reported in millimetres at the end of one hour. Since the introduction of automated analyzers into the clinical laboratory, the ESR test has been automatically performed. The ESR is influenced by the aggregation of red blood cells: blood plasma proteins, mainly fibrinogen, promote the formation of red cell clusters called '' rouleaux'' or larger structures (interconnected rouleaux, irregular clusters). As according to Stokes' law the sedimentation velocity varies like the square of the object's diameter, larger aggregates settle faster. While aggrega ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
C-reactive Protein
C-reactive protein (CRP) is an annular (ring-shaped) pentameric protein found in blood plasma, whose circulating concentrations rise in response to inflammation. It is an acute-phase protein of hepatic origin that increases following interleukin-6 secretion by macrophages and T cells. Its physiological role is to bind to lysophosphatidylcholine expressed on the surface of dead or dying cells (and some types of bacteria) in order to activate the complement system via C1q. CRP is synthesized by the liver in response to factors released by macrophages, T cells and fat cells (adipocytes). It is a member of the pentraxin family of proteins. It is not related to C-peptide (insulin) or protein C (blood coagulation). C-reactive protein was the first pattern recognition receptor (PRR) to be identified. History and etymology Discovered by William S. Tillett, Tillett and Francis in 1930, it was initially thought that CRP might be a pathogenic secretion since it was elevated in a variety ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Acute Phase Response
Acute-phase proteins (APPs) are a class of proteins whose concentrations in blood plasma either increase (positive acute-phase proteins) or decrease (negative acute-phase proteins) in response to inflammation. This response is called the ''acute-phase reaction'' (also called ''acute-phase response''). The acute-phase reaction characteristically involves fever, acceleration of peripheral leukocytes, circulating neutrophils and their precursors. The terms ''acute-phase protein'' and ''acute-phase reactant'' (APR) are often used synonymously, although some APRs are (strictly speaking) polypeptides rather than proteins. In response to injury, local inflammatory cells (neutrophil granulocytes and macrophages) secrete a number of cytokines into the bloodstream, most notable of which are the interleukins IL1, and IL6, and TNF-α. The liver responds by producing many acute-phase reactants. At the same time, the production of a number of other proteins is reduced; these proteins are, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Diarrhea
Diarrhea (American English), also spelled diarrhoea or diarrhœa (British English), is the condition of having at least three loose, liquid, or watery bowel movements in a day. It often lasts for a few days and can result in dehydration due to fluid loss. Signs of dehydration often begin with loss of the normal stretchiness of the skin and irritable behaviour. This can progress to decreased urination, loss of skin color, a fast heart rate, and a decrease in responsiveness as it becomes more severe. Loose but non-watery stools in babies who are exclusively breastfed, however, are normal. What is diarrhea? How is it caused, treated and prevented? (see also script)The most common cause is an infection of the intestines due to a virus, bacterium, or parasite—a condition also known as gastroenteritis. These infections are often acquired from food or water that has been contaminated by feces, or directly from another person who is infected. The three types of diarrhea ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cyclical Mouth Ulcers
Aphthous stomatitis, or recurrent aphthous stomatitis (RAS), commonly referred to as a canker sore or salt blister, is a common condition characterized by the repeated formation of benign and non- contagious mouth ulcers (aphthae) in otherwise healthy individuals. The cause is not completely understood but involves a T cell-mediated immune response triggered by a variety of factors which may include nutritional deficiencies, local trauma, stress, hormonal influences, allergies, genetic predisposition, certain foods, dehydration, some food additives, or some hygienic chemical additives like SDS (common in toothpaste). These ulcers occur periodically and heal completely between attacks. In the majority of cases, the individual ulcers last about 7–10 days, and ulceration episodes occur 3–6 times per year. Most appear on the non-keratinizing epithelial surfaces in the mouth – i.e. anywhere except the attached gingiva, the hard palate, and the dorsum of the tongue &n ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Skin Disease
A skin condition, also known as cutaneous condition, is any medical condition that affects the integumentary system—the organ system that encloses the body and includes skin, Nail (anatomy), nails, and related muscle and glands. The major function of this system is as a barrier against the external environment. Conditions of the human integumentary system constitute a broad spectrum of diseases, also known as dermatoses, as well as many nonpathologic states (like, in certain circumstances, melanonychia and racquet nails). While only a small number of skin diseases account for most visits to the physician, thousands of skin conditions have been described. Classification of these conditions often presents many nosological challenges, since underlying causes and pathogenetics are often not known. Therefore, most current textbooks present a classification based on location (for example, List of cutaneous conditions#Conditions of the mucous membranes, conditions of the mucous membran ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
