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Ethylmalonic Encephalopathy
Ethylmalonic encephalopathy (EE) is a rare autosomal recessive inborn error of metabolism. Patients affected with EE are typically identified shortly after birth, with symptoms including diarrhea, petechiae and seizures. The genetic defect in EE is thought to involve an impairment in the degradation of sulfide intermediates in the body. Hydrogen sulfide then builds up to toxic levels. EE was initially described in 1994. Most cases of EE have been described in individuals of Mediterranean or Arabic origin. Signs and symptoms Neurologic signs and symptoms include progressively delayed development, weak muscle tone (hypotonia), seizures, and abnormal movements. The body's network of blood vessels is also affected. Children with this disorder may experience rashes of tiny red spots (petechiae) caused by bleeding under the skin and blue discoloration in the hands and feet due to reduced oxygen in the blood (acrocyanosis). Chronic diarrhea is another common feature of ethylmalonic e ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Inheritance
Inheritance is the practice of receiving private property, titles, debts, entitlements, privileges, rights, and obligations upon the death of an individual. The rules of inheritance differ among societies and have changed over time. Officially bequeathing private property and/or debts can be performed by a testator via will, as attested by a notary or by other lawful means. Terminology In law, an ''heir'' is a person who is entitled to receive a share of the deceased's (the person who died) property, subject to the rules of inheritance in the jurisdiction of which the deceased was a citizen or where the deceased (decedent) died or owned property at the time of death. The inheritance may be either under the terms of a will or by intestate laws if the deceased had no will. However, the will must comply with the laws of the jurisdiction at the time it was created or it will be declared invalid (for example, some states do not recognise handwritten wills as valid, or on ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Johns Hopkins University
Johns Hopkins University (Johns Hopkins, Hopkins, or JHU) is a private research university in Baltimore, Maryland. Founded in 1876, Johns Hopkins is the oldest research university in the United States and in the western hemisphere. It consistently ranks among the most prestigious universities in the United States and the world. The university was named for its first benefactor, the American entrepreneur and Quaker philanthropist Johns Hopkins. Hopkins' $7 million bequest to establish the university was the largest philanthropic gift in U.S. history up to that time. Daniel Coit Gilman, who was inaugurated as Johns Hopkins's first president on February 22, 1876, led the university to revolutionize higher education in the U.S. by integrating teaching and research. In 1900, Johns Hopkins became a founding member of the American Association of Universities. The university has led all U.S. universities in annual research expenditures over the past three decades. Johns Hopkins is ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mitochondria
A mitochondrion (; ) is an organelle found in the cells of most Eukaryotes, such as animals, plants and fungi. Mitochondria have a double membrane structure and use aerobic respiration to generate adenosine triphosphate (ATP), which is used throughout the cell as a source of chemical energy. They were discovered by Albert von Kölliker in 1857 in the voluntary muscles of insects. The term ''mitochondrion'' was coined by Carl Benda in 1898. The mitochondrion is popularly nicknamed the "powerhouse of the cell", a phrase coined by Philip Siekevitz in a 1957 article of the same name. Some cells in some multicellular organisms lack mitochondria (for example, mature mammalian red blood cells). A large number of unicellular organisms, such as microsporidia, parabasalids and diplomonads, have reduced or transformed their mitochondria into other structures. One eukaryote, '' Monocercomonoides'', is known to have completely lost its mitochondria, and one multicellular orga ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ETHE1
Protein ETHE1, mitochondrial, also known as "ethylmalonic encephalopathy 1 protein" and "per sulfide dioxygenase", is a protein that in humans is encoded by the ''ETHE1'' gene located on chromosome 19. Structure The human ETHE1 gene consists of 7 exons and encodes for a protein that is approximately 27 kDa in size. Function This gene encodes a protein that is expressed mainly in the gastrointestinal tract, but also in several other tissues such as the liver and the thyroid. The ETHE1 protein is thought to localize primarily to the mitochondrial matrix and functions as a sulfur dioxygenase. Sulfur deoxygenates are proteins that function in sulfur metabolism. The ETHE1 protein is thought to catalyze the following reaction: : sulfur + O2 + H2O \rightleftharpoons sulfite + 2 H+ (overall reaction) : (1a) glutathione + sulfur \rightleftharpoons S-sulfanylglutathione (glutathione persulfide, spontaneous reaction) : (1b) S-sulfanylglutathione + O2 + H2O \rightleftharpoons g ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Phenotype
In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology or physical form and structure, its developmental processes, its biochemical and physiological properties, its behavior, and the products of behavior. An organism's phenotype results from two basic factors: the expression of an organism's genetic code, or its genotype, and the influence of environmental factors. Both factors may interact, further affecting phenotype. When two or more clearly different phenotypes exist in the same population of a species, the species is called polymorphic. A well-documented example of polymorphism is Labrador Retriever coloring; while the coat color depends on many genes, it is clearly seen in the environment as yellow, black, and brown. Richard Dawkins in 1978 and then again in his 1982 book '' The Extended Phenotype'' suggested that one can regard bird nests and other built structures such as ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Thiosulphate
Thiosulfate ( IUPAC-recommended spelling; sometimes thiosulphate in British English) is an oxyanion of sulfur with the chemical formula . Thiosulfate also refers to the compounds containing this anion, which are the salts of thiosulfuric acid, e.g. sodium thiosulfate . Thiosulfate also refers to the esters of thiosulfuric acid, e.g. ''O'',''S''-dimethyl thiosulfate . The prefix thio- indicates that the thiosulfate is a sulfate with one oxygen replaced by sulfur. Thiosulfate is tetrahedral at the central S atom. Thiosulfate salts occur naturally. Thiosulfate ion has C3v symmetry, and is produced by certain biochemical processes. It rapidly dechlorinates water and is notable for its use to halt bleaching in the paper-making industry. Thiosulfate salts are mainly used in dying in textiles and the bleaching of natural substances. Sodium thiosulfate, commonly called ''hypo'' (from "hyposulfite"), was widely used in photography to fix black and white negatives and prints after the dev ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Acrocyanosis
Acrocyanosis is persistent blue or cyanotic discoloration of the extremities, most commonly occurring in the hands, although it also occurs in the feet and distal parts of face.Kurklinsky AK, Miller VM, Rooke TW. "Acrocyanosis: The Flying Dutchman." ''Vascular Medicine'' 2011 Aug;16(4):288-301Olin, J.W. (2004). Other peripheral arterial diseases. In L. Goldman & D. Ausiello (Eds.), ''Cecil Textbook of Medicine, 22nd Edition''. (Vol 1, pp. 475). Philadelphia: WB Saunders Creager, M.A. & Dzau, V.J. (2005). Vascular diseases of the extremities. In D.L. Kasper, A.S. Fauci, D.L. Longo, E. Braunwald, S.L. Hauser, & J.L Jameson (Eds.), ''Harrison's Prins of Internal Medicine'' (16th ed., pp. 1490). New York: McGraw-Hill (2006). Peripheral vascular disorders. In R.S. Porter, T.V. Jones, & M.H. Beer (Eds.), ''Merck Manual of Diagnosis and Therapy'' (18th ed., ch. 212). New York: Wiley, John & Sons Although described over 100 years ago and not uncommon in practice, the nature of this phenom ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypotonia
Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength. Hypotonia is a lack of resistance to passive movement, whereas muscle weakness results in impaired active movement. Central hypotonia originates from the central nervous system, while peripheral hypotonia is related to problems within the spinal cord, peripheral nerves and/or skeletal muscles. Severe hypotonia in infancy is commonly known as floppy baby syndrome. Recognizing hypotonia, even in early infancy, is usually relatively straightforward, but diagnosing the underlying cause can be difficult and often unsuccessful. The long-term effects of hypotonia on a child's development and later life depend primarily on the severity of the muscle weakness and the n ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hydrogen Sulfide
Hydrogen sulfide is a chemical compound with the formula . It is a colorless chalcogen-hydride gas, and is poisonous, corrosive, and flammable, with trace amounts in ambient atmosphere having a characteristic foul odor of rotten eggs. The underground mine gas term for foul-smelling hydrogen sulfide-rich gas mixtures is ''stinkdamp''. Swedish chemist Carl Wilhelm Scheele is credited with having discovered the chemical composition of purified hydrogen sulfide in 1777. The British English spelling of this compound is hydrogen sulphide, a spelling no longer recommended by the Royal Society of Chemistry or the International Union of Pure and Applied Chemistry. Hydrogen sulfide is toxic to humans and most other animals by inhibiting cellular respiration in a manner similar to hydrogen cyanide. When it is inhaled or it or its salts are ingested in high amounts, damage to organs occurs rapidly with symptoms ranging from breathing difficulties to convulsions and death. Despite this, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Medical Genetics
Medical genetics is the branch tics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics. In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). ''Genetic medicine'' is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine. Scope Medical genetics encompasses many different areas, including clinical practice o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Seizure
An epileptic seizure, informally known as a seizure, is a period of symptoms due to abnormally excessive or synchronous neuronal activity in the brain. Outward effects vary from uncontrolled shaking movements involving much of the body with loss of consciousness ( tonic-clonic seizure), to shaking movements involving only part of the body with variable levels of consciousness ( focal seizure), to a subtle momentary loss of awareness ( absence seizure). Most of the time these episodes last less than two minutes and it takes some time to return to normal. Loss of bladder control may occur. Seizures may be provoked and unprovoked. Provoked seizures are due to a temporary event such as low blood sugar, alcohol withdrawal, abusing alcohol together with prescription medication, low blood sodium, fever, brain infection, or concussion. Unprovoked seizures occur without a known or fixable cause such that ongoing seizures are likely. Unprovoked seizures may be exacerbated by stre ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Petechiae
A petechia () is a small red or purple spot (≤4 mm in diameter) that can appear on the skin, conjunctiva, retina, and mucous membranes which is caused by haemorrhage of capillaries. The word is derived from Italian , 'freckle,' of obscure origin. It refers to one of the three descriptive types of hematoma differentiated by size, the other two being ecchymosis (>1cm in diameter) and purpura (4-10mm in diameter). The term is always used in the plural (petechiae), since a single petechia is seldom noticed or significant. Causes Physical trauma The most common cause of petechiae is through physical trauma such as a hard bout of coughing, holding breath, vomiting, or crying, which can result in facial petechiae, especially around the eyes. Such instances are harmless and usually disappear within a few days. * Constriction, asphyxiation – petechiae, especially in the eyes, may also occur when excessive pressure is applied to tissue (e.g., when a tourniquet is applied to an extrem ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
