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Tricho-hepato-enteric Syndrome
Tricho-hepato-enteric syndrome (THE), also known as syndromic or phenotypic diarrhea, is an extremely rare congenital disease, congenital bowel disorder which manifests itself as intractable diarrhea in infants with intrauterine growth retardation, hair disease, hair and Dysmorphic feature, facial abnormalities. Many also have liver disease and abnormalities of the immune system. The associated malabsorption leads to malnutrition and failure to thrive. It is thought to be a genetic disorder with an autosomal recessive inheritance pattern, although responsible genes have not been found and the exact cause remains idiopathic, unknown. Prognosis is poor; many patients die before the age of 5 (mainly from infections or cirrhosis), although most patients nowadays survive with intravenous feeding (parenteral nutrition). Symptoms Tricho-hepato-enteric syndrome is one particular form of intractable diarrhea of infancy, presenting typically in the first month of life. These babies were usua ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Congenital Disease
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth defects are divided into two main types: structural disorders in which problems are seen with the shape of a body part and functional disorders in which problems exist with how a body part works. Functional disorders include metabolic and degenerative disorders. Some birth defects include both structural and functional disorders. Birth defects may result from genetic or chromosomal disorders, exposure to certain medications or chemicals, or certain infections during pregnancy. Risk factors include folate deficiency, drinking alcohol or smoking during pregnancy, poorly controlled diabetes, and a mother over the age of 35 years old. Many are believed to involve multiple factors. Birth defects may be visib ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Intractable Diarrhea Of Infancy
Intractable may refer to: * Intractable conflict, a form of complex, severe, and enduring conflict * Intractable pain Intractable pain (also known as intractable pain disease/IPD) is a severe, constant, relentless and debilitating pain that is not curable by any known means and which causes a house-bound or bed-bound state and early death if not adequately treate ..., pain which cannot be controlled/cured by any known treatment * Intractable problem, in computational complexity theory {{disambiguation ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Blood
Blood is a body fluid in the circulatory system of humans and other vertebrates that delivers necessary substances such as nutrients and oxygen to the cells, and transports metabolic waste products away from those same cells. Blood in the circulatory system is also known as ''peripheral blood'', and the blood cells it carries, ''peripheral blood cells''. Blood is composed of blood cells suspended in blood plasma. Plasma, which constitutes 55% of blood fluid, is mostly water (92% by volume), and contains proteins, glucose, mineral ions, hormones, carbon dioxide (plasma being the main medium for excretory product transportation), and blood cells themselves. Albumin is the main protein in plasma, and it functions to regulate the colloidal osmotic pressure of blood. The blood cells are mainly red blood cells (also called RBCs or erythrocytes), white blood cells (also called WBCs or leukocytes) and platelets (also called thrombocytes). The most abundant cells in vertebrate blo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bladder
The urinary bladder, or simply bladder, is a hollow organ in humans and other vertebrates that stores urine from the kidneys before disposal by urination. In humans the bladder is a distensible organ that sits on the pelvic floor. Urine enters the bladder via the ureters and exits via the urethra. The typical adult human bladder will hold between 300 and (10.14 and ) before the urge to empty occurs, but can hold considerably more. The Latin phrase for "urinary bladder" is ''vesica urinaria'', and the term ''vesical'' or prefix ''vesico -'' appear in connection with associated structures such as vesical veins. The modern Latin word for "bladder" – ''cystis'' – appears in associated terms such as cystitis (inflammation of the bladder). Structure In humans, the bladder is a hollow muscular organ situated at the base of the pelvis. In gross anatomy, the bladder can be divided into a broad , a body, an apex, and a neck. The apex (also called the vertex) is directed forward ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Amniotic Fluid
The amniotic fluid is the protective liquid contained by the amniotic sac of a gravid amniote. This fluid serves as a cushion for the growing fetus, but also serves to facilitate the exchange of nutrients, water, and biochemical products between mother and fetus. For humans, the amniotic fluid is commonly called water or waters (Latin liquor amnii). Development Amniotic fluid is present from the formation of the gestational sac. Amniotic fluid is in the amniotic sac. It is generated from maternal plasma, and passes through the fetal membranes by osmotic and hydrostatic forces. When fetal kidneys begin to function around week 16, fetal urine also contributes to the fluid. In earlier times, it was believed that the amniotic fluid was composed entirely of fetal urine. The fluid is absorbed through the fetal tissue and skin. After 22 to 25 week of pregnancy, keratinization of an embryo's skin occurs. When this process completes around the 25th week, the fluid is primarily absor ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Adrenal Gland
The adrenal glands (also known as suprarenal glands) are endocrine glands that produce a variety of hormones including adrenaline and the steroids aldosterone and cortisol. They are found above the kidneys. Each gland has an outer cortex which produces steroid hormones and an inner medulla. The adrenal cortex itself is divided into three main zones: the zona glomerulosa, the zona fasciculata and the zona reticularis. The adrenal cortex produces three main types of steroid hormones: mineralocorticoids, glucocorticoids, and androgens. Mineralocorticoids (such as aldosterone) produced in the zona glomerulosa help in the regulation of blood pressure and electrolyte balance. The glucocorticoids cortisol and cortisone are synthesized in the zona fasciculata; their functions include the regulation of metabolism and immune system suppression. The innermost layer of the cortex, the zona reticularis, produces androgens that are converted to fully functional sex hormones in the gonads ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tetratricopeptide Repeat Domain 37
TTC37 (Tetratricopeptide repeat domain 37) is a protein which in humans is encoded by gene ''TTC37'', located on chromosome 5. Structure The length of the polypeptide chain is 1,564 amino acids, and the molecular weight is 175,486 Da. TTC37 contains six tetratricopeptide repeat domains. Function TTC37 is a component of the Ski complex which is involved in exosome mediated RNA decay. Subcellular distribution It is localized in the cytoplasmatic space and the cell nucleus. Clinical significance Mutation in the TTC37 gene are associated with tricho-hepato-enteric syndrome Tricho-hepato-enteric syndrome (THE), also known as syndromic or phenotypic diarrhea, is an extremely rare congenital disease, congenital bowel disorder which manifests itself as intractable diarrhea in infants with intrauterine growth retardation, .... References {{portal, Biology Genes on human chromosome 5 Human proteins ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Intelligence
Intelligence has been defined in many ways: the capacity for abstraction, logic, understanding, self-awareness, learning, emotional knowledge, reasoning, planning, creativity, critical thinking, and problem-solving. More generally, it can be described as the ability to perceive or infer information, and to retain it as knowledge to be applied towards adaptive behaviors within an environment or context. Intelligence is most often studied in humans but has also been observed in both non-human animals and in plants despite controversy as to whether some of these forms of life exhibit intelligence. Intelligence in computers or other machines is called artificial intelligence. Etymology The word ''intelligence'' derives from the Latin nouns '' intelligentia'' or '' intellēctus'', which in turn stem from the verb '' intelligere'', to comprehend or perceive. In the Middle Ages, the word ''intellectus'' became the scholarly technical term for understanding, and a translation f ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hemochromatosis
Iron overload or hemochromatosis (also spelled ''haemochromatosis'' in British English) indicates increased total accumulation of iron in the body from any cause and resulting organ damage. The most important causes are hereditary haemochromatosis (HH or HHC), a genetic disorder, and transfusional iron overload, which can result from repeated blood transfusions. Signs and symptoms Organs most commonly affected by hemochromatosis include the liver, heart, and endocrine glands. Hemochromatosis may present with the following clinical syndromes: * liver: chronic liver disease and cirrhosis of the liver. * heart: heart failure, cardiac arrhythmia. * hormones: diabetes (see below) and hypogonadism (insufficiency of the sex hormone producing glands) which leads to low sex drive and/or loss of fertility in men and loss of menstrual cycle in women. * metabolism: diabetes in people with iron overload occurs as a result of selective iron deposition in islet beta cells in the pancreas lead ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hepatocyte
A hepatocyte is a cell of the main parenchymal tissue of the liver. Hepatocytes make up 80% of the liver's mass. These cells are involved in: * Protein synthesis * Protein storage * Transformation of carbohydrates * Synthesis of cholesterol, bile salts and phospholipids * Detoxification, modification, and excretion of exogenous and endogenous substances * Initiation of formation and secretion of bile Structure The typical hepatocyte is cubical with sides of 20-30 μm, (in comparison, a human hair has a diameter of 17 to 180 μm).The diameter of human hair ranges from 17 to 181 μm. The typical volume of a hepatocyte is 3.4 x 10−9 cm3. Smooth endoplasmic reticulum is abundant in hepatocytes, in contrast to most other cell types. Microanatomy Hepatocytes display an eosinophilic cytoplasm, reflecting numerous mitochondria, and basophilic stippling due to large amounts of smooth endoplasmic reticulum and free ribosomes. Brown lipofuscin granules are also observed ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fibrosis
Fibrosis, also known as fibrotic scarring, is a pathological wound healing in which connective tissue replaces normal parenchymal tissue to the extent that it goes unchecked, leading to considerable tissue remodelling and the formation of permanent scar tissue. Repeated injuries, chronic inflammation and repair are susceptible to fibrosis where an accidental excessive accumulation of extracellular matrix components, such as the collagen is produced by fibroblasts, leading to the formation of a permanent fibrotic scar. In response to injury, this is called scarring, and if fibrosis arises from a single cell line, this is called a fibroma. Physiologically, fibrosis acts to deposit connective tissue, which can interfere with or totally inhibit the normal architecture and function of the underlying organ or tissue. Fibrosis can be used to describe the pathological state of excess deposition of fibrous tissue, as well as the process of connective tissue deposition in healing. Define ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
