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SHORT Syndrome
SHORT syndrome is a medical condition in which affected individuals have multiple birth defects in different organ systems. It was characterized in 1975. Presentation SHORT is an acronym for short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly and teething delay. Other characteristics common in SHORT syndrome are a triangular face, a prominent forehead, small chin with a dimple, a loss of fat under the skin (lipodystrophy), prominent ears (but no low implantation or posterior localisation), hearing loss and delayed speech. Facial lipodystrophy may be evident during birth and later on in the chest and higher extremities, but it usually won't affect buttocks and legs. Diabetes has been observed in ⅔ of the affected after they turn 15. Diagnosis Diagnosis is based on facial characteristics and molecular genetic testing that will show a mutation on gene ''PIK3R1'' (5q13.1), which codifies the regulating alpha subunit of phosphatidyl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Birth Defect
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 visi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Organ System
An organ system is a biological system consisting of a group of organs that work together to perform one or more functions. Each organ has a specialized role in a plant or animal body, and is made up of distinct tissues. Plants Plants have two major organ systems. Vascular plants have two distinct organ systems: a shoot system, and a root system. The shoot system consists stems, leaves, and the reproductive parts of the plant (flowers and fruits). The shoot system generally grows above ground, where it absorbs the light needed for photosynthesis. The root system, which supports the plants and absorbs water and minerals, is usually underground. Animals Other animals have similar organ systems to humans although simpler animals may have fewer organs in an organ system or even fewer organ systems. Humans There are 11 distinct organ systems in human beings, which form the basis of human anatomy and physiology. The 11 organ systems include the respiratory system, dige ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Acronym
An acronym is a word or name formed from the initial components of a longer name or phrase. Acronyms are usually formed from the initial letters of words, as in ''NATO'' (''North Atlantic Treaty Organization''), but sometimes use syllables, as in ''Benelux'' (short for ''Belgium, the Netherlands, and Luxembourg''). They can also be a mixture, as in ''radar'' (''Radio Detection And Ranging''). Acronyms can be pronounced as words, like ''NASA'' and ''UNESCO''; as individual letters, like ''FBI'', ''TNT'', and ''ATM''; or as both letters and words, like '' JPEG'' (pronounced ') and ''IUPAC''. Some are not universally pronounced one way or the other and it depends on the speaker's preference or the context in which it is being used, such as '' SQL'' (either "sequel" or "ess-cue-el"). The broader sense of ''acronym''—the meaning of which includes terms pronounced as letters—is sometimes criticized, but it is the term's original meaning and is in common use. Dictionary and st ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Short Stature
Short stature refers to a height of a human which is below typical. Whether a person is considered short depends on the context. Because of the lack of preciseness, there is often disagreement about the degree of shortness that should be called ''short''. Dwarfism is the condition of being very short, often caused by a medical condition. In a medical context, short stature is typically defined as an adult height that is more than two standard deviations below a population’s mean for age and gender, which corresponds to the shortest 2.3% of individuals in that population. The median or typical adult height in developed countries is about for men and for women. Causes Shortness in children and young adults nearly always results from below-average growth in childhood, while shortness in older adults usually results from loss of height due to kyphosis of the spine or collapsed vertebrae from osteoporosis. The most common causes of short stature in childhood are constitutional ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Joint
A joint or articulation (or articular surface) is the connection made between bones, ossicles, or other hard structures in the body which link an animal's skeletal system into a functional whole.Saladin, Ken. Anatomy & Physiology. 7th ed. McGraw-Hill Connect. Webp.274/ref> They are constructed to allow for different degrees and types of movement. Some joints, such as the knee, elbow, and shoulder, are self-lubricating, almost frictionless, and are able to withstand compression and maintain heavy loads while still executing smooth and precise movements. Other joints such as sutures between the bones of the skull permit very little movement (only during birth) in order to protect the brain and the sense organs. The connection between a tooth and the jawbone is also called a joint, and is described as a fibrous joint known as a gomphosis. Joints are classified both structurally and functionally. Classification The number of joints depends on if sesamoids are included, age of the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Inguinal Hernia
An inguinal hernia is a hernia (protrusion) of abdominal-cavity contents through the inguinal canal. Symptoms, which may include pain or discomfort especially with or following coughing, exercise, or bowel movements, are absent in about a third of patients. Symptoms often get worse throughout the day and improve when lying down. A bulging area may occur that becomes larger when bearing down. Inguinal hernias occur more often on the right than left side. The main concern is strangulation, where the blood supply to part of the intestine is blocked. This usually produces severe pain and tenderness of the area. Risk factors for the development of a hernia include: smoking, chronic obstructive pulmonary disease, obesity, pregnancy, peritoneal dialysis, collagen vascular disease, and previous open appendectomy, among others. Predisposition to hernias is Genetic predisposition, genetic and they occur more often in certain families. Deleterious mutations causing predisposition to he ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rieger Anomaly
Rieger and de Reiger are surnames. Notable people with the surname include: *August Rieger *Bernhard Rieger, German Prelate of the Roman Catholic Church * Durhane Wong-Rieger, Canadian physician *Erich Rieger, German astrophysicist * František Ladislav Rieger, Czech politician and leader of nationalist movement *Fritz Rieger, German conductor *Gottfried Rieger (1764–1855), Austrian composer * James E. Rieger, American lawyer and US Army officer * Janusz Rieger, Polish linguist *Joerg Rieger (born 1963), American professor *Jürgen Rieger, German lawyer and Holocaust denier * Ladislav Svante Rieger, Czech mathematician *Max Rieger (born 1946), German alpine skier * Nicole Rieger, German pole-vaulter *Sabine Günther née Rieger, East German athlete * Silvia Rieger, German athlete See also * De Reiger, a smock mill in Nijetrijne, Friesland, Netherlands * De Dans van de Reiger, a 1966 Dutch film * Rieger Orgelbau, Austrian organ-building firm * Rieger–Kloss Rieger–Kloss is a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lipodystrophy
Lipodystrophy syndromes are a group of genetic or acquired disorders in which the body is unable to produce and maintain healthy fat tissue. The medical condition is characterized by abnormal or degenerative conditions of the body's adipose tissue. A more specific term, ''lipoatrophy ("lipo" is Greek for "fat", and "dystrophy" is Greek for "abnormal or degenerative condition")'', is used when describing the loss of fat from one area (usually the face). This condition is also characterized by a lack of circulating leptin which may lead to osteosclerosis. The absence of fat tissue is associated with insulin resistance, hypertriglyceridemia, non-alcoholic fatty liver disease (NAFLD) and metabolic syndrome. Types Lipodystrophy can be divided into the following types: *Congenital lipodystrophy syndromes **Congenital generalized lipodystrophy (Berardinelli-Seip syndrome) **Familial partial lipodystrophy **Marfanoid–progeroid–lipodystrophy syndrome ** Chronic atypical neutrophilic d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication (translesion synthesis). Mutations may also result from insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce detectable changes in the observable characteristics (phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. Mutation is the ultimate source o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cell Growth
Cell growth refers to an increase in the total mass of a cell, including both cytoplasmic, nuclear and organelle volume. Cell growth occurs when the overall rate of cellular biosynthesis (production of biomolecules or anabolism) is greater than the overall rate of cellular degradation (the destruction of biomolecules via the proteasome, lysosome or autophagy, or catabolism). Cell growth is not to be confused with cell division or the cell cycle, which are distinct processes that can occur alongside cell growth during the process of cell proliferation, where a cell, known as the mother cell, grows and divides to produce two daughter cells. Importantly, cell growth and cell division can also occur independently of one another. During early embryonic development ( cleavage of the zygote to form a morula and blastoderm), cell divisions occur repeatedly without cell growth. Conversely, some cells can grow without cell division or without any progression of the cell cycle, such as g ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cell Proliferation
Cell proliferation is the process by which ''a cell grows and divides to produce two daughter cells''. Cell proliferation leads to an exponential increase in cell number and is therefore a rapid mechanism of tissue growth. Cell proliferation requires both cell growth and cell division to occur at the same time, such that the average size of cells remains constant in the population. Cell division can occur without cell growth, producing many progressively smaller cells (as in cleavage of the zygote), while cell growth can occur without cell division to produce a single larger cell (as in growth of neurons). Thus, cell proliferation is not synonymous with either cell growth or cell division, despite the fact that these terms are sometimes used interchangeably. Stem cells undergo cell proliferation to produce proliferating "transit amplifying" daughter cells that later differentiate to construct tissues during normal development and tissue growth, during tissue regeneration aft ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
