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HLA-DQ4
HLA-DQ4 (DQ4) is a serotype subgroup within HLA-DQ(DQ) serotypes. The serotype is determined by the antibody recognition of β4 subset of DQ β-chains. The β-chain of DQ is encoded by HLA-DQB1 locus and DQ4 are encoded by the HLA-DQB1 allele group. This group currently contains 2 common alleles, DQB1 and DQB1. HLA-DQ4 and HLA-DQB1*04 are almost synonymous in meaning. DQ4 β-chains combine with α-chains, encoded by genetically linked HLA-DQA1 alleles, to form the cis-haplotype isoforms. These isoforms, nicknamed DQ4.3 and DQ4.4, are also encoded by the DQA1 and DQA1 genes, respectively. Serotype Alleles DQB1*0401 DQB1*0402 Haplotypes DQ4.3 DQA1*0303:DQB1*0401 is linked to DRB1*0405 and is common on the west Pacific rim, from Indonesia to Japan and inland areas of Eastern Asia. In Japan it confers susceptibility to juvenile diabetes likely via the DR4 gene. DQA1*0303:DQB1*0402 is primarily found in Northeastern Asia and the west Pacific rim. It is similar to DQA1*0 ...
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HLA-DQB1
Major histocompatibility complex, class II, DQ beta 1, also known as HLA-DQB1, is a human gene and also denotes the genetic locus that contains this gene. The protein encoded by this gene is one of two proteins that are required to form the DQ heterodimer, a cell surface receptor essential to the function of the immune system. Function HLA-DQB1 belongs to the HLA class II beta chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen-presenting cells (APC: B lymphocytes, dendritic cells, macrophages). Gene structure and polymorphisms The beta chain is approximately 26-28 kDa and it contains 6 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular protein domains, exon 4 encodes the transmembrane domain, and exon 5 ...
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HLA-DQ Haplotypes
HLA-DQ (DQ) is a cell surface receptor protein found on antigen-presenting cells. It is an αβ protein dimer, heterodimer of type MHC class II. The α and β peptide, chains are encoded by two locus (genetics), loci, HLA-DQA1 and HLA-DQB1, that are adjacent to each other on chromosome 6, chromosome band 6p21.3. Both α-chain and β-chain vary greatly. A person often produces two α-chain and two β-chain wikt:variant, variants and thus 4 wikt:isoform, isoforms of DQ. The DQ loci are in close genetic linkage to HLA-DR, and less closely linked to HLA-DP, HLA-A, HLA-B and HLA-C. Different isoforms of DQ can bind to and present different antigens to T-cells. In this process T-cells are stimulated to grow and can signal B-cells to produce antibodies. DQ functions in recognizing and presenting foreign antigens (proteins derived from potential wikt:pathogen, pathogens). But DQ is also involved in recognizing common autoantigen, self-antigens and presenting those antigens to the immune s ...
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HLA-DQA1
Major histocompatibility complex, class II, DQ alpha 1, also known as HLA-DQA1, is a human gene present on short arm of chromosome 6 (6p21.3) and also denotes the genetic locus which contains this gene. The protein encoded by this gene is one of two proteins that are required to form the DQ heterodimer, a cell surface receptor essential to the function of the immune system. Function HLA-DQA1 belongs to the HLA class II alpha chain paralogues. This class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen-presenting cells (APC: B lymphocytes, dendritic cells, macrophages). Gene structure and polymorphisms The alpha chain contains 5 exons. Exon one encodes the leader peptide, exons 2 and 3 encode the two extracellular protein domains, exon 4 encodes the transmembrane d ...
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HLA-DQ
HLA-DQ (DQ) is a cell surface receptor protein found on antigen-presenting cells. It is an αβ heterodimer of type MHC class II. The α and β chains are encoded by two loci, HLA-DQA1 and HLA-DQB1, that are adjacent to each other on chromosome band 6p21.3. Both α-chain and β-chain vary greatly. A person often produces two α-chain and two β-chain variants and thus 4 isoforms of DQ. The DQ loci are in close genetic linkage to HLA-DR, and less closely linked to HLA-DP, HLA-A, HLA-B and HLA-C. Different isoforms of DQ can bind to and present different antigens to T-cells. In this process T-cells are stimulated to grow and can signal B-cells to produce antibodies. DQ functions in recognizing and presenting foreign antigens (proteins derived from potential pathogens). But DQ is also involved in recognizing common self-antigens and presenting those antigens to the immune system in order to develop tolerance from a very young age. When tolerance to self protein ...
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Botswana
Botswana, officially the Republic of Botswana, is a landlocked country in Southern Africa. Botswana is topographically flat, with approximately 70 percent of its territory part of the Kalahari Desert. It is bordered by South Africa to the south and southeast, Namibia to the west and north, Zambia to the north, and Zimbabwe to the northeast. With a population of slightly over 2.4 million people and a comparable land area to France, Botswana is one of the List of countries and dependencies by population density, most sparsely populated countries in the world. It is essentially the nation-state of the Tswana people, who constitute nearly 80 percent of the population. The Tswana ethnic group are descended mainly from Bantu peoples, Bantu-speaking peoples who Bantu expansion, migrated into southern Africa, including modern Botswana, in several waves before AD 600. In 1885, the British Empire, British colonised the area and declared a protectorate named Bechuanaland. As part of the ...
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Ryukyu Islands
The , also known as the or the , are a chain of Japanese islands that stretch southwest from Kyushu to Geography of Taiwan, Taiwan: the Ryukyu Islands are divided into the Satsunan Islands (Ōsumi Islands, Ōsumi, Tokara Islands, Tokara and Amami Islands, Amami) and Okinawa Prefecture (Daitō Islands, Daitō, Miyako Islands, Miyako, Yaeyama Islands, Yaeyama, Senkaku Islands, Senkaku, Okinawa Islands, Okinawa, Sakishima Islands (further divided into the Miyako Islands, Miyako and Yaeyama Islands), and Yonaguni as the westernmost). The larger ones are mostly volcanic islands and the smaller mostly coral island, coral. The largest is Okinawa Island. The climate of the islands ranges from humid subtropical climate (Köppen climate classification ''Cfa'') in the north to tropical rainforest climate (Köppen climate classification ''Af'') in the south. Precipitation is very high and is affected by the rainy season and typhoons. Except the outlying Daitō Islands, the island chain ha ...
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Haemophilia A
Haemophilia A (or hemophilia A) is a blood clotting disorder caused by a genetic deficiency in clotting factor VIII, thereby resulting in significant susceptibility to bleeding, both internally and externally. This condition occurs almost exclusively in males born to carrier mothers due to X-linked recessive inheritance. Nevertheless, rare isolated cases do emerge from de novo (spontaneous) mutations. The medical management of individuals with hemophilia A frequently entails the administration of factor VIII medication through slow intravenous injection. This intervention aims to address and preempt additional bleeding episodes in affected individuals. Signs and symptoms Haemophilia A's phenotype has a quite wide range of symptoms encompassing both internal and external bleeding episodes. Individuals with more severe haemophilia tend to experience more intense and frequent bleeding, whereas those with mild haemophilia typically exhibit milder symptoms unless subjected to sur ...
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Vogt–Koyanagi–Harada Disease
Vogt–Koyanagi–Harada disease (VKH) is a multisystem disease of presumed autoimmune disease, autoimmune cause that affects melanin-pigmented tissues. The most significant manifestation is bilateral, diffuse uveitis, which affects the eyes. VKH may variably also involve the inner ear, with effects on hearing, the skin, and the meninges of the central nervous system. Signs and symptoms Overview The disease is characterised by bilateral diffuse uveitis, with pain, redness and vision loss, blurring of vision. The eye symptoms may be accompanied by a varying constellation of systemic symptoms, such as auditory (tinnitus, vertigo, and hypoacusis), neurological (meningismus, with malaise, fever, headache, nausea, abdominal pain, stiffness of the neck and back, or a combination of these factors; meningitis, Cerebrospinal fluid, CSF pleocytosis, cranial nerve palsy, palsies, hemiparesis, transverse myelitis and ciliary ganglionitis), and cutaneous manifestations, including poli ...
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High-altitude Pulmonary Edema
High-altitude pulmonary edema (HAPE) is a life-threatening form of non-cardiogenic pulmonary edema that occurs in otherwise healthy people at altitudes typically above . HAPE is a severe presentation of altitude sickness. Cases have also been reported between in people who are at a higher risk or are more vulnerable to the effects of high altitude. Classically, HAPE occurs in persons normally living at low altitude who travel to an altitude above . Re-entry HAPE is also an entity that has been described in persons who normally live at high altitude but who develop pulmonary edema after returning from a stay at low altitude. If HAPE is not treated, there is a 50% risk of mortality. Symptoms include crackling sounds when breathing, dyspnea (at rest), and cyanosis. There are many factors that can make a person more susceptible to developing HAPE, including genetic factors. The understanding of the risk factors and how to prevent HAPE is not clear. HAPE remains the major cause of ...
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Diabetes Mellitus Type 1
Type 1 diabetes (T1D), formerly known as juvenile diabetes, is an autoimmune disease that occurs when the body's immune system destroys pancreatic cells (beta cells). In healthy persons, beta cells produce insulin. Insulin is a hormone required by the body to store and convert blood sugar into energy. T1D results in hyperglycemia, high blood sugar levels in the body prior to treatment. Common symptoms include polyuria, frequent urination, polydipsia, increased thirst, polyphagia, increased hunger, weight loss, and other complications. Additional symptoms may include blurry vision, fatigue (medical), tiredness, and slow wound healing (owing to impaired blood flow). While some cases take longer, symptoms usually appear within weeks or a few months. The cause of type 1 diabetes is not completely understood, but it is believed to involve a combination of genetic and environmental factors. The underlying mechanism involves an autoimmune destruction of the insulin-producing beta cells ...
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Chlamydia Infection
Chlamydia, or more specifically a chlamydia infection, is a sexually transmitted infection caused by the bacterium ''Chlamydia trachomatis''. Most people who are infected have no symptoms. When symptoms do appear, they may occur only several weeks after infection; the incubation period between exposure and being able to infect others is thought to be on the order of two to six weeks. Symptoms in women may include vaginal discharge or burning with urination. Symptoms in men may include discharge from the penis, burning with urination, or pain and swelling of one or both testicles. The infection can spread to the upper genital tract in women, causing pelvic inflammatory disease, which may result in future infertility or ectopic pregnancy. Chlamydia infections can occur in other areas besides the genitals, including the anus, eyes, throat, and lymph nodes. Repeated chlamydia infections of the eyes that go without treatment can result in trachoma, a common cause of blindness ...
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Juvenile Idiopathic Arthritis
Juvenile idiopathic arthritis (JIA), formerly known as juvenile rheumatoid arthritis (JRA), is the most common chronic rheumatic disease of childhood, affecting approximately 3.8 to 400 out of 100,000 children. ''Juvenile'', in this context, refers to disease onset before 16 years of age, while ''idiopathic'' refers to a condition with no defined cause, and ''arthritis'' is inflammation within the joint. JIA is an autoimmune, noninfective, inflammatory joint disease, the cause of which remains poorly understood. It is characterised by chronic joint inflammation. JIA is a subset of childhood arthritis, but unlike other, more transient forms of childhood arthritis, JIA persists for at least six weeks, and in some children is a lifelong condition. It differs significantly from forms of arthritis commonly seen in adults (osteoarthritis, rheumatoid arthritis), in terms of cause, disease associations, and prognosis. The prognosis for children with JIA has improved dramatically over re ...
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