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Cerebrotendinous Xanthomatosis
Cerebrotendinous xanthomatosis (CTX), also called cerebral cholesterosis, is a rare inborn bile acid metabolism disorder caused by autosomal-recessive mutations in the CYP27A1 gene. CTX is characterized by a wide range of symptoms, including neurological and non-neurological issues. The average age of symptom onset is 19 years, with central nervous system symptoms being the first indications. Neurological characteristics include Parkinsonism, epilepsy, dystonia, progressive ataxia, palatal myoclonus, intellectual disability, dementia, and psychiatric symptoms. CTX often results in cataracts during childhood. Adults with CTX often experience optic disk paleness and other ocular problems. Clinical symptoms include cardiovascular disease and premature atherosclerosis, with patients experiencing elevated levels of 27-hydroxycholesterol and decreased high-density lipoprotein cholesterol. CTX patients often experience osteoporosis and recurrent bone fractures, with gait abnormalities ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Heredity
Heredity, also called inheritance or biological inheritance, is the passing on of traits from parents to their offspring; either through asexual reproduction or sexual reproduction, the offspring cells or organisms acquire the genetic information of their parents. Through heredity, variations between individuals can accumulate and cause species to evolve by natural selection. The study of heredity in biology is genetics. Overview In humans, eye color is an example of an inherited characteristic: an individual might inherit the "brown-eye trait" from one of the parents. Inherited traits are controlled by genes and the complete set of genes within an organism's genome is called its genotype. The complete set of observable traits of the structure and behavior of an organism is called its phenotype. These traits arise from the interaction of the organism's genotype with the environment. As a result, many aspects of an organism's phenotype are not inherited. For example, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
High-density Lipoprotein
High-density lipoprotein (HDL) is one of the five major groups of lipoproteins. Lipoproteins are complex particles composed of multiple proteins which transport all fat molecules (lipids) around the body within the water outside cells. They are typically composed of 80–100 proteins per particle (organized by one, two or three ApoA). HDL particles enlarge while circulating in the blood, aggregating more fat molecules and transporting up to hundreds of fat molecules per particle. HDL particles are commonly referred to as "good cholesterol", because they transport fat molecules out of artery walls, reduce macrophage accumulation, and thus help prevent or even regress atherosclerosis. Overview Lipoproteins are divided into five subgroups, by density/size (an inverse relationship), which also correlates with function and incidence of cardiovascular events. Unlike the larger lipoprotein particles, which deliver fat molecules to cells, HDL particles remove fat molecules from cells. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Analysis
Genetic analysis is the overall process of studying and researching in fields of science that involve genetics and molecular biology. There are a number of applications that are developed from this research, and these are also considered parts of the process. The base system of analysis revolves around general genetics. Basic studies include identification of genes and inherited disorders. This research has been conducted for centuries on both a large-scale physical observation basis and on a more microscopic scale. Genetic analysis can be used generally to describe methods both used in and resulting from the sciences of genetics and molecular biology, or to applied research, applications resulting from this research. Genetic analysis may be done to identify genetic/inherited disorders and also to make a differential diagnosis in certain somatic diseases such as cancer. Genetic analyses of cancer include detection of mutations, fusion genes, and DNA copy number changes. Histor ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cholesterol
Cholesterol is the principal sterol of all higher animals, distributed in body Tissue (biology), tissues, especially the brain and spinal cord, and in Animal fat, animal fats and oils. Cholesterol is biosynthesis, biosynthesized by all animal Cell (biology)#Eukaryotic cells, cells and is an essential structural and cholesterol signaling, signaling component of animal cell membranes. In vertebrates, hepatocyte, hepatic cells typically produce the greatest amounts. In the brain, astrocytes produce cholesterol and transport it to neurons. It is absent among prokaryotes (bacteria and archaea), although there are some exceptions, such as ''Mycoplasma'', which require cholesterol for growth. Cholesterol also serves as a Precursor (chemistry), precursor for the biosynthesis of steroid hormones, bile acid and vitamin D. Elevated levels of cholesterol in the blood, especially when bound to low-density lipoprotein (LDL, often referred to as "bad cholesterol"), may increase the risk of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cholestanol
5β-Coprostanol (5β-cholestan-3β-ol) is a 27-carbon stanol formed from the net reductive metabolism of cholesterol (cholest-5en-3β-ol) in the gut of most higher animals and birds. This compound has frequently been used as a biomarker for the presence of human faecal matter in the environment. 5β-coprostanol is thought to be exclusively bacterial in origin. Chemical properties Solubility 5β-coprostanol has a low water solubility, and consequently a high octanol-water partition coefficient . In other words, 5β-coprostanol has an affinity nearly 1 billion times higher for octanol than for water. This means that in most environmental systems, 5β-coprostanol will be associated with the solid phase. Degradation In anaerobic sediments and soils, 5β-coprostanol is stable for many hundreds of years enabling it to be used as an indicator of past faecal discharges. As such, records of 5β-coprostanol from paleo-environmental archives have been used to further constrain ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cholic Acid
Cholic acid, also known as 3α,7α,12α-trihydroxy-5β-cholan-24-oic acid is a primary bile acid that is insoluble in water (soluble in alcohol and acetic acid), it is a white crystalline substance. Salts of cholic acid are called cholates. Cholic acid, along with chenodeoxycholic acid, is one of the two major bile acids produced by the liver, where it is synthesized from cholesterol. These two major bile acids are roughly equal in concentration in humans. Derivatives are made from cholyl-CoA, which exchanges its CoA with either glycine, or taurine, yielding glycocholic and taurocholic acid, respectively. Cholic acid downregulates cholesterol-7-α-hydroxylase (rate-limiting step in bile acid synthesis), and cholesterol does the opposite. This is why chenodeoxycholic acid, and not cholic acid, can be used to treat gallstones (because decreasing bile acid synthesis would supersaturate the stones even more). Cholic acid and chenodeoxycholic acid are the most important huma ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Chenodeoxycholic Acid
Chenodeoxycholic acid (CDCA; also known as chenodesoxycholic acid, chenocholic acid and 3α,7α-dihydroxy-5β-cholan-24-oic acid) is a bile acid. Salts of this carboxylic acid are called chenodeoxycholates. Chenodeoxycholic acid is one of the main bile acids. It was first isolated from the bile of the domestic goose, which gives it the "cheno" portion of its name (Greek: χήν = goose). Structure Chenodeoxycholic acid and cholic acid are the two primary bile acids in humans. Chenodeoxycholic acid has two hydroxyl groups and is modified with the addition of another hydroxyl group to produce cholic acid. Some other mammals have muricholic acid or deoxycholic acid rather than chenodeoxycholic acid. It occurs as a white crystalline substance insoluble in water but soluble in alcohol and acetic acid, with melting point at 165–167 °C. Biosynthesis and function Chenodeoxycholic acid is synthesized in the liver from cholesterol via several enzymatic steps. Like othe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Xanthoma
A xanthoma (pl. xanthomas or xanthomata) (condition: xanthomatosis) is a deposition of yellowish cholesterol-rich material that can appear anywhere in the body in various disease states. They are cutaneous manifestations of lipidosis in which lipids accumulate in large foam cells within the skin. They are associated with hyperlipidemias, both primary and secondary types. Tendon xanthomas are associated with type II hyperlipidemia, chronic Biliary tract#Pathology, biliary tract obstruction, primary biliary cirrhosis, sitosterolemia and the rare metabolic disease cerebrotendineous xanthomatosis. Palmar xanthomata and tuberoeruptive xanthomata (over knees and elbows) occur in type III hyperlipidemia. Etymology The term xanthoma stems from Greek ξανθός (xanthós) 'yellow', and -ωμα -oma, a suffix forming nouns indicating a mass or tumor. Types Xanthelasma A xanthelasma is a sharply demarcated yellowish collection of cholesterol underneath the skin, usually on or around ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cholestatic Jaundice
Jaundice, also known as icterus, is a yellowish or, less frequently, greenish pigmentation of the skin and sclera due to high bilirubin levels. Jaundice in adults is typically a sign indicating the presence of underlying diseases involving abnormal heme metabolism, liver dysfunction, or biliary-tract obstruction. The prevalence of jaundice in adults is rare, while jaundice in babies is common, with an estimated 80% affected during their first week of life. The most commonly associated symptoms of jaundice are itchiness, pale feces, and dark urine. Normal levels of bilirubin in blood are below 1.0 mg/ dl (17 μmol/ L), while levels over 2–3 mg/dl (34–51 μmol/L) typically result in jaundice. High blood bilirubin is divided into two types: unconjugated and conjugated bilirubin. Causes of jaundice vary from relatively benign to potentially fatal. High unconjugated bilirubin may be due to excess red blood cell breakdown, large bruises, genetic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gallstone
A gallstone is a stone formed within the gallbladder from precipitated bile components. The term cholelithiasis may refer to the presence of gallstones or to any disease caused by gallstones, and choledocholithiasis refers to the presence of migrated gallstones within bile ducts. Most people with gallstones (about 80%) are asymptomatic. However, when a gallstone obstructs the bile duct and causes acute cholestasis, a reflexive smooth muscle spasm often occurs, resulting in an intense cramp-like visceral pain in the right upper part of the abdomen known as a biliary colic (or "gallbladder attack"). This happens in 1–4% of those with gallstones each year. Complications from gallstones may include inflammation of the gallbladder (cholecystitis), inflammation of the pancreas (pancreatitis), obstructive jaundice, and infection in bile ducts ( cholangitis). Symptoms of these complications may include pain that lasts longer than five hours, fever, yellowish skin, vomiting, da ... [...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] |
