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MODY 5
Renal cysts and diabetes syndrome (RCAD), also known as MODY 5 or HNF1B-MODY, is a form of maturity onset diabetes of the young. Presentation HNF1β-related MODY is one of the less common forms of MODY, with some distinctive clinical features, including atrophy of the pancreas and several forms of renal disease. HNF1β, also known as transcription factor 2 (TCF2), is involved in early stages of embryonic development of several organs, including the pancreas, where it contributes to differentiation of pancreatic endocrine Ngn3+ cell progenitors from non-endocrine embryonic duct cells. The gene is on chromosome 17q. The degree of insulin deficiency is variable. Diabetes can develop from infancy through middle adult life, and some family members who carry the gene remain free of diabetes into later adult life. Most of those who develop diabetes show atrophy of the entire pancreas, with mild or subclinical deficiency of exocrine as well as endocrine function. The non-pancreatic m ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Maturity Onset Diabetes Of The Young
Maturity or immaturity may refer to: * Adulthood or age of majority * Maturity model ** Capability Maturity Model, in software engineering, a model representing the degree of formality and optimization of processes in an organization * Developmental age, the age of an embryo as measured from the point of fertilization * Mature technology, a technology has been in use and development for long enough that most of its initial problems have been overcome * Maturity (finance), indicating the final date for payment of principal and interest * Maturity (geology), rock, source rock, and hydrocarbon generation * Maturity (psychological), the attainment of one's final level of psychological functioning and the integration of their personality into an organized whole * Maturity (sedimentology), the proximity of a sedimentary deposit from its source * Sexual maturity, the stage when an organism can reproduce, though this is distinct from adulthood See also * Evolution Evolution is t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Liver Enzyme
Liver function tests (LFTs or LFs), also referred to as a hepatic panel or liver panel, are groups of blood tests that provide information about the state of a patient's liver. These tests include prothrombin time (PT/INR), activated partial thromboplastin time (aPTT), albumin, bilirubin (direct and indirect), and others. The liver transaminases aspartate transaminase (AST or SGOT) and alanine transaminase (ALT or SGPT) are useful biomarkers of liver injury in a patient with some degree of intact liver function. Most liver diseases cause only mild symptoms initially, but these diseases must be detected early. Hepatic (liver) involvement in some diseases can be of crucial importance. This testing is performed on a patient's blood sample. Some tests are associated with functionality (e.g., albumin), some with cellular integrity (e.g., transaminase), and some with conditions linked to the biliary tract ( gamma-glutamyl transferase and alkaline phosphatase). Because some of thes ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pancreatic Enzymes (medication)
Pancreatic enzymes, also known as pancreases, pancrelipases or pancreatins are commercial mixtures of amylase, lipase, protease and lactase obtained from pigs. The components are digestive enzymes similar to those normally produced by the human pancreas. They help in the digestion of fats, starches, and proteins. They are used to treat malabsorption syndrome due to certain pancreatic insufficiencies. These pancreatic problems may be due to cystic fibrosis, surgical removal of the pancreas, long-term pancreatitis, pancreatic cancer, or MODY 5, among others. The preparation is taken by mouth. The treatment is also known as pancreatic enzyme replacement therapy or PERT. Common side effects include vomiting, abdominal pain, constipation, and diarrhea. Other side effects include perianal irritation and high blood uric acid. Use is believed to be safe during pregnancy. Pancreatic enzymes have been used as medications since at least the 1800s. They are on the World Health ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
17q12 Microdeletion Syndrome
17q12 microdeletion syndrome, also known as 17q12 deletion syndrome, is a rare chromosomal anomaly caused by the deletion of a small amount of material from a region in the long arm of chromosome 17. It is typified by deletion of the HNF1B gene, resulting in kidney abnormalities and renal cysts and diabetes syndrome. It also has neurocognitive effects, and has been implicated as a genetic factor for autism and schizophrenia. 17q12 microdeletion syndrome is not to be confused with 17q12 microduplication syndrome, caused by the addition of genetic material in the same region from which it is removed in the microdeletion, or 17q21.31 microdeletion syndrome, another name for Koolen–De Vries syndrome. Presentation 17q12 microdeletions have a variable phenotype, ranging from few or no symptoms to severe disability. The condition is thought to be underdiagnosed, and cases with milder phenotypes may not reach clinical attention unless they have an affected child themselves. The m ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Intragenic (other) is derived
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Intragenic may refer to: *Intragenic, a proposed designation for genetic modifications which originate in a common genome *Intragenic region, a term from which intron An intron is any nucleotide sequence within a gene that is not expressed or operative in the final RNA product. The word ''intron'' is derived from the term ''intragenic region'', i.e., a region inside a gene."The notion of the cistron .e., gen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
HNF1B
HNF1 homeobox B (hepatocyte nuclear factor 1 homeobox B), also known as HNF1B or transcription factor 2 (TCF2), is a human gene. Function HNF1B encodes hepatocyte nuclear factor 1-beta, a protein of the homeobox-containing basic helix-turn-helix family. The HNF1B protein is believed to form heterodimers with another member of this transcription factor family, HNF1A; depending on the HNF1B isoform, the result may be to activate or inhibit transcription of target genes. Deficiency of HNF1B cause abnormal maternal-Zygote transition and early embryogenesis failure. Mutation of HNF1B that disrupts normal function has been identified as the cause of MODY 5 ( Maturity-Onset of Diabetes, Type 5). A third human transcript variant is believed to exist based on such a variant in the rat: however, to date such an mRNA species has not been isolated. See also * Hepatocyte nuclear factors Hepatocyte nuclear factors (HNFs) are a group of phylogenetically unrelated transcription factors that ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gout
Gout ( ) is a form of inflammatory arthritis characterized by recurrent attacks of pain in a red, tender, hot, and Joint effusion, swollen joint, caused by the deposition of needle-like crystals of uric acid known as monosodium urate crystals. Pain typically comes on rapidly, reaching maximal intensity in less than 12 hours. The Metatarsophalangeal joint, joint at the base of the Hallux, big toe is affected (''Podagra'') in about half of cases. It may also result in Tophus, tophi, kidney stones, or Urate nephropathy, kidney damage. Gout is due to persistently elevated levels of uric acid (urate) in the blood (hyperuricemia). This occurs from a combination of diet, other health problems, and genetic factors. At high levels, uric acid crystallizes and the crystals deposit in joints, tendons, and surrounding tissues, resulting in an attack of gout. Gout occurs more commonly in those who regularly drink beer or sugar-sweetened beverages; eat foods that are high in purines such ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hyperuricaemia
Hyperuricaemia or hyperuricemia is an abnormally high level of uric acid in the blood. In the pH conditions of body fluid, uric acid exists largely as urate, the ion form. Serum uric acid concentrations greater than 6 mg/dL for females, 7 mg/dL for males, and 5.5 mg/dL for youth (under 18 years old) are defined as hyperuricemia. The amount of urate in the body depends on the balance between the amount of purines eaten in food, the amount of urate synthesised within the body (e.g., through cell turnover), and the amount of urate that is excreted in urine or through the gastrointestinal tract. Hyperuricemia may be the result of increased production of uric acid, decreased excretion of uric acid, or both increased production and reduced excretion. Signs and symptoms Unless high blood levels of uric acid are determined in a clinical laboratory, hyperuricemia may not cause noticeable symptoms in most people. Development of gout which is a painful, short-term dis ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Liver
The liver is a major metabolic organ (anatomy), organ exclusively found in vertebrates, which performs many essential biological Function (biology), functions such as detoxification of the organism, and the Protein biosynthesis, synthesis of various proteins and various other Biochemistry, biochemicals necessary for digestion and growth. In humans, it is located in the quadrants and regions of abdomen, right upper quadrant of the abdomen, below the thoracic diaphragm, diaphragm and mostly shielded by the lower right rib cage. Its other metabolic roles include carbohydrate metabolism, the production of a number of hormones, conversion and storage of nutrients such as glucose and glycogen, and the decomposition of red blood cells. Anatomical and medical terminology often use the prefix List of medical roots, suffixes and prefixes#H, ''hepat-'' from ἡπατο-, from the Greek language, Greek word for liver, such as hepatology, and hepatitis The liver is also an accessory digestive ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Spermatozoa
A spermatozoon (; also spelled spermatozoön; : spermatozoa; ) is a motile sperm cell (biology), cell produced by male animals relying on internal fertilization. A spermatozoon is a moving form of the ploidy, haploid cell (biology), cell that is the male gamete that Fertilization, joins with an ovum to form a zygote. (A zygote is a single cell, with a complete set of chromosomes, that normally develops into an embryo.) Sperm cells contribute approximately half of the nuclear gene, genetic information to the diploid offspring (excluding, in most cases, mitochondrial DNA). In mammals, the sex of the offspring is determined by the sperm cell: a spermatozoon bearing an X chromosome will lead to a female (XX) offspring, while one bearing a Y chromosome will lead to a male (XY) offspring. Sperm cells were first observed in Antonie van Leeuwenhoek's laboratory in 1677. Mammalian spermatozoa Humans The sperm cell of ''Homo sapiens'' is the small Gamete, reproductive cell produced by m ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Kidney
In humans, the kidneys are two reddish-brown bean-shaped blood-filtering organ (anatomy), organs that are a multilobar, multipapillary form of mammalian kidneys, usually without signs of external lobulation. They are located on the left and right in the retroperitoneal space, and in adult humans are about in length. They receive blood from the paired renal artery, renal arteries; blood exits into the paired renal veins. Each kidney is attached to a ureter, a tube that carries excreted urine to the urinary bladder, bladder. The kidney participates in the control of the volume of various body fluids, fluid osmolality, Acid-base homeostasis, acid-base balance, various electrolyte concentrations, and removal of toxins. Filtration occurs in the glomerulus (kidney), glomerulus: one-fifth of the blood volume that enters the kidneys is filtered. Examples of substances reabsorbed are solute-free water, sodium, bicarbonate, glucose, and amino acids. Examples of substances secreted are hy ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Infertility
In biology, infertility is the inability of a male and female organism to Sexual reproduction, reproduce. It is usually not the natural state of a healthy organism that has reached sexual maturity, so children who have not undergone puberty, which is the body's start of fertility, reproductive capacity, are excluded. It is also a normal state in women after menopause. In humans, ''infertility'' is defined as the inability to become pregnant after at least one year of unprotected and regular sexual intercourse involving a male and female partner. There are many causes of infertility, including some that Assisted reproductive technology, medical intervention can treat. Estimates from 1997 suggest that worldwide about five percent of all heterosexual couples have an unresolved problem with infertility. Many more couples, however, experience involuntary childlessness for at least one year, with estimates ranging from 12% to 28%. Male infertility is responsible for 20–30% of infert ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
