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Autoimmune Polyendocrine Syndrome
Autoimmune polyendocrine syndromes (APSs), also called polyglandular autoimmune syndromes (PGASs) or polyendocrine autoimmune syndromes (PASs), are a heterogeneous group of rare diseases characterized by autoimmune activity against more than one endocrine organ, although non-endocrine organs can be affected. There are three types of APS, and there are a number of other diseases which involve endocrine autoimmunity. Types * Autoimmune polyendocrine syndrome type 1, an autosomal recessive syndrome due to mutation of the ''AIRE'' gene resulting in hypoparathyroidism, adrenal insufficiency, hypogonadism, vitiligo, candidiasis and others. * Autoimmune polyendocrine syndrome type 2, an autosomal dominant syndrome due to multifactorial gene involvement resulting in adrenal insufficiency plus hypothyroidism and/or type 1 diabetes. * Immunodysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX syndrome) is X-linked recessive due to mutation of the ''FOXP3'' gene on the X chr ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autoimmune Regulator
The autoimmune regulator (AIRE) is a protein that in humans is encoded by the ''AIRE'' gene. It is a 13Kilo-base pair, kbp gene on chromosome 21q22.3 that encodes 545 amino acids. AIRE is a transcription factor expressed in the Thymus#Medulla, medulla (inner part) of the thymus. It is part of the Central tolerance, mechanism which eliminates self-reactive T cells that would cause autoimmune disease. It exposes T cells to normal, healthy proteins from all parts of the body, and T cells that react to those proteins are destroyed. Each T cell recognizes a specific antigen when it is presented in complex with a major histocompatibility complex (MHC) molecule by an Antigen-presenting cell, antigen presenting cell. This recognition is accomplished by the T-cell receptor, T cell receptors expressed on the cell surface. T cells receptors are generated by V(D)J recombination, randomly shuffled gene segments which results in a highly diverse population of T cells—each with a unique antig ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X-linked Recessive
''Main Article'': Sex linkage X-linked recessive inheritance is a mode of Mendelian inheritance, inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males (who are necessarily hemizygous for the gene mutation because they have one X and one Y chromosome) and in females who are homozygous for the gene mutation (see zygosity). Females with one copy of the mutated gene are carriers. X-linked inheritance means that the gene causing the trait or the disorder is located on the X chromosome. Females have two X chromosomes while males have one X and one Y chromosome. Carrier females who have only one copy of the mutation do not usually express the phenotype, although differences in X-chromosome inactivation (known as skewed X-inactivation) can lead to varying degrees of clinical expression in carrier females, since some cells will express one X allele and some will express the other. The current estimate of sequenced X-linked genes i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Endocrine Diseases
Endocrine diseases are disorders of the endocrine system. The branch of medicine associated with endocrine disorders is known as endocrinology. Types of disease Broadly speaking, endocrine disorders may be subdivided into three groups: # Endocrine gland hypofunction/hyposecretion (leading to hormone deficiency) # Endocrine gland hyperfunction/hypersecretion (leading to hormone excess) # Tumours (benign or malignant) of endocrine glands Endocrine disorders are often quite complex, involving a mixed picture of hyposecretion and hypersecretion because of the feedback mechanisms involved in the endocrine system. For example, most forms of hyperthyroidism are associated with an excess of thyroid hormone and a low level of thyroid stimulating hormone. List of diseases Glucose homeostasis disorders * Diabetes ** Type 1 Diabetes ** Type 2 Diabetes ** Gestational Diabetes ** Mature Onset Diabetes of the Young ** Diabetic myopathy * Hypoglycemia ** Idiopathic hypoglycemia ** In ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Immunosuppression
Immunosuppression is a reduction of the activation or efficacy of the immune system. Some portions of the immune system itself have immunosuppressive effects on other parts of the immune system, and immunosuppression may occur as an adverse reaction to treatment of other conditions. In general, deliberately induced immunosuppression is performed to prevent the body from rejecting an organ transplant. Additionally, it is used for treating graft-versus-host disease after a bone marrow transplant, or for the treatment of auto-immune diseases such as systemic lupus erythematosus, rheumatoid arthritis, Sjögren's syndrome, or Crohn's disease. This is typically done using medications, but may involve surgery (splenectomy), plasmapheresis, or radiation. A person who is undergoing immunosuppression, or whose immune system is weak for some other reasons (such as chemotherapy or HIV), is said to be ''immunocompromised''. Deliberately induced Administration of immunosuppressive medi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ketoconazole
Ketoconazole, sold under the brand name Nizoral, among others, is an antiandrogen, antifungal drug, antifungal, and antiglucocorticoid medication used to treat a number of fungal infections. Applied to the skin it is used for fungal skin infections such as tinea, cutaneous candidiasis, pityriasis versicolor, dandruff, and seborrhoeic dermatitis, seborrheic dermatitis. Taken oral administration, by mouth it is a less preferred option and recommended for only severe infections when other agents cannot be used. Other uses include treatment of hirsutism, excessive male-patterned hair growth in women and Cushing's syndrome. Common side effects when transdermal administration, applied to the skin include redness. Common side effects when taken by mouth include nausea, headache, and liver problems. Liver problems may result in death or the need for a liver transplantation. Other severe side effects when taken orally include QT prolongation, adrenocortical insufficiency, and anaphyl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X Linked Thrombocytopenia
X, or x, is the twenty-fourth letter of the Latin alphabet, used in the modern English alphabet, the alphabets of other western European languages and others worldwide. Its name in English is ''ex'' (pronounced ), plural ''exes''."X", ''Oxford English Dictionary'', 2nd edition (1989); ''Merriam-Webster's Third New International Dictionary of the English Language, Unabridged'' (1993); "ex", ''op. cit''. History The letter , representing , was inherited from the Etruscan alphabet. It perhaps originated in the of the Euboean alphabet or another Western Greek alphabet, which also represented . Its relationship with the of the Eastern Greek alphabets, which represented , is uncertain. The pronunciation of in the Romance languages underwent sound changes, with various outcomes: * French: (e.g. ''laisser'' from ''laxare'') * Italian: (e.g. ''asse'' from ''axem'') and, in some cases, (e.g. ''lasciare'' from ''laxare'') * Portuguese: (e.g. ''eixo'' from ''axem'') * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Severe Combined Immunodeficiency
Severe combined immunodeficiency (SCID), also known as Swiss-type agammaglobulinemia, is a rare genetic disorder characterized by the disturbed development of functional T cells and B cells caused by numerous genetic mutations that result in differing clinical presentations. SCID involves defective antibody response due to either direct involvement with B lymphocytes or through improper B lymphocyte activation due to non-functional T-helper cells. Consequently, both "arms" (B cells and T cells) of the adaptive immune system are impaired due to a defect in one of several possible genes. SCID is the most severe form of primary immunodeficiencies, and there are now at least seven different known genes in which mutations lead to a form of SCID. It is also known as the bubble boy disease and bubble baby disease because its victims are extremely vulnerable to infectious diseases and some of them, such as David Vetter, have become famous for living in a sterile environment. SCID is t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
STAT5B
Signal transducer and activator of transcription 5B is a protein that in humans is encoded by the ''STAT5B'' gene. ''STAT5B'' orthologs have been identified in most placentals for which complete genome data are available. Function The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein mediates the signal transduction triggered by various cell ligands, such as IL2, IL4, CSF1, and different growth hormones. It has been shown to be involved in diverse biological processes, such as TCR signaling, apoptosis, adult mammary gland development, and sexual dimorphism of liver gene expression. This gene was found to fuse to retinoic acid receptor-alpha (''RARA'') gene in a small subset of acute promyelocy ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CD25
The interleukin-2 receptor alpha chain (also called Tac antigen, P55, and mainly CD25) is a protein involved in the assembly of the high-affinity interleukin-2 receptor, consisting of alpha (''IL2RA''), beta ('' IL2RB'') and the common gamma chain (''IL2RG''). As the name indicates, this receptor interacts with interleukin-2, a pleiotropic cytokine which plays an important role in immune homeostasis. Genetics The human protein interleukin-2 receptor subunit alpha is encoded by a gene called ''IL2RA'' with a length around 51,6 kb. Alternative names for this protein coding gene are ''IL2R'', ''IDDM10'' and ''TCGFR''. Location of ''IL2RA'' in human genome is on the short arm of 10th chromosome (10p15.1). Several frequent point mutations, single nucleotide polymorphism (SNP), have been identified in or in close proximity to ''IL2RA'' gene in the population. These SNPs have been linked mainly to susceptibility to immune dysregulation disorders, with majority found in research on ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CT Scan
A computed tomography scan (CT scan), formerly called computed axial tomography scan (CAT scan), is a medical imaging technique used to obtain detailed internal images of the body. The personnel that perform CT scans are called radiographers or radiology technologists. CT scanners use a rotating X-ray tube and a row of detectors placed in a gantry (medical), gantry to measure X-ray Attenuation#Radiography, attenuations by different tissues inside the body. The multiple X-ray measurements taken from different angles are then processed on a computer using tomographic reconstruction algorithms to produce Tomography, tomographic (cross-sectional) images (virtual "slices") of a body. CT scans can be used in patients with metallic implants or pacemakers, for whom magnetic resonance imaging (MRI) is Contraindication, contraindicated. Since its development in the 1970s, CT scanning has proven to be a versatile imaging technique. While CT is most prominently used in medical diagnosis, i ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Endoscopic
An endoscopy is a procedure used in medicine to look inside the body. The endoscopy procedure uses an endoscope to examine the interior of a hollow organ or cavity of the body. Unlike many other medical imaging techniques, endoscopes are inserted directly into the organ. There are many types of endoscopies. Depending on the site in the body and type of procedure, an endoscopy may be performed by a doctor or a surgeon. During the procedure, a patient may be fully conscious or anaesthetised. Most often, the term ''endoscopy'' is used to refer to an examination of the upper part of the gastrointestinal tract, known as an esophagogastroduodenoscopy. Similar instruments are called borescopes for nonmedical use. History Adolf Kussmaul was fascinated by sword swallowers who would insert a sword down their throat without gagging. This drew inspiration to insert a hollow tube for observation; the next problem to solve was how to shine light through the tube, as they were still rel ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
