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Barth Syndrome
Barth syndrome (BTHS) is a rare but serious X-linked genetic disorder, caused by changes in phospholipid structure and metabolism. It may affect multiple body systems (though mainly characterized by pronounced pediatric-onset cardiomyopathy), and is potentially fatal. The syndrome is diagnosed almost exclusively in males. Presentation Though not always present, the cardinal characteristics of this multi-system disorder include: cardiomyopathy (dilated or hypertrophic, possibly with left ventricular noncompaction and/or endocardial fibroelastosis), neutropenia (chronic, cyclic, or intermittent), underdeveloped skeletal musculature and muscle weakness, growth delay, exercise intolerance, cardiolipin abnormalities, and 3-methylglutaconic aciduria. It can be associated with stillbirth. Barth Syndrome is manifested in a variety of ways at birth. A majority of patients are hypotonic at birth; show signs of cardiomyopathy within the first few months of life; and experience a decelerat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cardiolipin
Cardiolipin (IUPAC name 1,3-bis(''sn''-3’-phosphatidyl)-''sn''-glycerol) is an important component of the inner mitochondrial membrane, where it constitutes about 20% of the total lipid composition. It can also be found in the membranes of most bacteria. The name "cardiolipin" is derived from the fact that it was first found in animal hearts. It was first isolated from beef heart in the early 1940s by Mary C. Pangburn. In mammalian cells, but also in plant cells, cardiolipin (CL) is found almost exclusively in the inner mitochondrial membrane, where it is essential for the optimal function of numerous enzymes that are involved in mitochondrial energy metabolism. Structure Cardiolipin (CL) is a kind of diphosphatidylglycerol lipid. Two phosphatidic acid moieties connect with a glycerol backbone in the center to form a dimeric structure. So it has four alkyl groups and potentially carries two negative charges. As there are four distinct alkyl chains in cardiolipin, the potenti ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cardiolipin
Cardiolipin (IUPAC name 1,3-bis(''sn''-3’-phosphatidyl)-''sn''-glycerol) is an important component of the inner mitochondrial membrane, where it constitutes about 20% of the total lipid composition. It can also be found in the membranes of most bacteria. The name "cardiolipin" is derived from the fact that it was first found in animal hearts. It was first isolated from beef heart in the early 1940s by Mary C. Pangburn. In mammalian cells, but also in plant cells, cardiolipin (CL) is found almost exclusively in the inner mitochondrial membrane, where it is essential for the optimal function of numerous enzymes that are involved in mitochondrial energy metabolism. Structure Cardiolipin (CL) is a kind of diphosphatidylglycerol lipid. Two phosphatidic acid moieties connect with a glycerol backbone in the center to form a dimeric structure. So it has four alkyl groups and potentially carries two negative charges. As there are four distinct alkyl chains in cardiolipin, the potenti ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndromes Affecting The Heart
A syndrome is a set of medical signs and symptoms that are correlated with each other. A syndrome A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired ... can affect one or more of body systems. Different syndromes affect different groups of organs. This is a list of syndromes that may affect the heart. ''Syndromes affecting primarily the heart are written in bold letters. '' References External links What Is the Heart?– NIH {{Medicine ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phospholipid Metabolism Disorders
Phospholipids, are a class of lipids whose molecule has a hydrophile, hydrophilic "head" containing a phosphate group and two hydrophobic "tails" derived from fatty acids, joined by an Alcohol (chemistry), alcohol residue (usually a glycerol molecule). Marine phospholipids typically have omega-3 fatty acids Eicosapentaenoic acid, EPA and Docosahexaenoic acid, DHA integrated as part of the phospholipid molecule. The phosphate group can be modified with simple organic molecules such as choline, ethanolamine or serine. Phospholipids are a key component of all cell membranes. They can form lipid bilayers because of their amphiphilic characteristic. In eukaryotes, cell membranes also contain another class of lipid, sterol, interspersed among the phospholipids. The combination provides fluidity in two dimensions combined with mechanical strength against rupture. Purified phospholipids are produced commercially and have found applications in nanotechnology and materials science. The fi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Noncompaction Cardiomyopathy
Noncompaction cardiomyopathy (NCC) is a rare congenital disease of heart muscle that affects both children and adults. It results from abnormal prenatal development of heart muscle. During development, the majority of the heart muscle is a sponge-like meshwork of interwoven myocardial fibers. As normal development progresses, these trabeculated structures undergo significant compaction that transforms them from spongy to solid. This process is particularly apparent in the ventricles, and particularly so in the left ventricle. Noncompaction cardiomyopathy results when there is failure of this process of compaction. Because the consequence of non-compaction is particularly evident in the left ventricle, the condition is also called left ventricular noncompaction. Other hypotheses and models have been proposed, none of which is as widely accepted as the noncompaction model. Symptoms range greatly in severity. Most are a result of a poor pumping performance by the heart. The dise ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
3-Methylglutaconic Aciduria
3-Methylglutaconic aciduria (MGA) is any of at least five metabolic disorders that impair the body's ability to make energy in the mitochondria. As a result of this impairment, 3-methylglutaconic acid and 3-methylglutaric acid build up and can be detected in the urine. 3-Methylglutaconic acid is an organic acid. The double carboxylic acid functions are the principal cause of the strength of this acid. 3-methylglutaconic acid can be detected by the presence of the acid function and the double connection that involves reactivity with some specific substances. Genetics The inheritance patterns of 3-methylglutaconic aciduria differ depending on the gene involved. * Types I and III are inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder. * Type II is inherite ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pedigree Chart
A pedigree chart is a diagram that shows the occurrence and appearance of phenotypes of a particular gene or organism and its ancestors from one generation to the next, most commonly humans, show dogs, and race horses. Definition The word pedigree is a corruption of the Anglo-Norman French ''pé de grue'' or "crane's foot", either because the typical lines and split lines (each split leading to different offspring of the one parent line) resemble the thin leg and foot of a crane or because such a mark was used to denote succession in pedigree charts. A pedigree results in the presentation of family information in the form of an easily readable chart. It can be simply called as a "family tree". Pedigrees use a standardized set of symbols, squares represent males and circles represent females. Pedigree construction is a family history, and details about an earlier generation may be uncertain as memories fade. If the sex of the person is unknown a diamond is used. Someone with the ph ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Prevalence
In epidemiology, prevalence is the proportion of a particular population found to be affected by a medical condition (typically a disease or a risk factor such as smoking or seatbelt use) at a specific time. It is derived by comparing the number of people found to have the condition with the total number of people studied and is usually expressed as a fraction, a percentage, or the number of cases per 10,000 or 100,000 people. Prevalence is most often used in questionnaire studies. Difference between prevalence and incidence Prevalence is the number of disease cases ''present ''in a particular population at a given time, whereas incidence is the number of new cases that ''develop '' during a specified time period. Prevalence answers "How many people have this disease right now?" or "How many people have had this disease during this time period?". Incidence answers "How many people acquired the disease uring a specified time period". However, mathematically, prevalence is propor ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Incidence (epidemiology)
In epidemiology, incidence is a measure of the probability of occurrence of a given medical condition in a population within a specified period of time. Although sometimes loosely expressed simply as the number of new cases during some time period, it is better expressed as a proportion or a rate with a denominator. Incidence proportion Incidence proportion (IP), also known as cumulative incidence, is defined as the probability that a particular event, such as occurrence of a particular disease, has occurred before a given time. It is calculated dividing the number of new cases during a given period by the number of subjects at risk in the population initially at risk at the beginning of the study. Where the period of time considered is an entire lifetime, the incidence proportion is called lifetime risk. For example, if a population initially contains 1,000 persons and 28 develop a condition since the disease first occurred until two years later, the cumulative incidence prop ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
University Of Florida
The University of Florida (Florida or UF) is a public land-grant research university in Gainesville, Florida. It is a senior member of the State University System of Florida, traces its origins to 1853, and has operated continuously on its Gainesville campus since September 1906. After the Florida state legislature's creation of performance standards in 2013, the Florida Board of Governors designated the University of Florida as a "preeminent university". For 2022, '' U.S. News & World Report'' ranked Florida as the fifth (tied) best public university and 28th (tied) best university in the United States. The University of Florida is the only member of the Association of American Universities in Florida and is classified among "R1: Doctoral Universities – Very high research activity". The university is accredited by the Southern Association of Colleges and Schools (SACS). It is the third largest Florida university by student population,Nathan Crabbe, UF is no longer la ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Urinalysis
Urinalysis, a portmanteau of the words ''urine'' and ''analysis'', is a panel of medical tests that includes physical (macroscopic) examination of the urine, chemical evaluation using urine test strips, and microscopic examination. Macroscopic examination targets parameters such as color, clarity, odor, and specific gravity; urine test strips measure chemical properties such as pH, glucose concentration, and protein levels; and microscopy is performed to identify elements such as cells, urinary casts, crystals, and organisms. Background Urine is produced by the filtration of blood in the kidneys. The formation of urine takes place in microscopic structures called nephrons, about one million of which are found in a normal human kidney. Blood enters the kidney though the renal artery and flows through the kidney's vasculature into the Glomerulus (kidney), glomerulus, a tangled knot of capillaries surrounded by Bowman's capsule. The glomerulus and Bowman's capsule together form t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
IPLA2-VIA
85 kDa calcium-independent phospholipase A2, also known as 85/88 kDa calcium-independent phospholipase A2, Group VI phospholipase A2, Intracellular membrane-associated calcium-independent phospholipase A2 beta, or Patatin-like phospholipase domain-containing protein 9 is an enzyme that in humans is encoded by the ''PLA2G6'' gene. Structure The ''PLA2G6'' gene is located on the p arm of chromosome 22 at position 13.1 and it spans 80,605 base pairs. The ''PLA2G6'' gene produces an 18.6 kDa protein composed of 166 amino acids. The resulting protein's structure has been shown to contain a lipase motif and 8 ankyrin repeats. Different from rodent PLA2G6, which is known to share 90% overall amino acid sequence identity with that of the humans, the human PLA2G6 protein contains a 54-residue insertion which codes for a proline-rich region. This insertion has been shown to disrupt the last putative ankyrin repeat, as well as function as a linker region that segregates the N-terminal prot ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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