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Marinesco–Sjögren Syndrome
Marinesco–Sjögren syndrome (MSS), sometimes spelled Marinescu–Sjögren syndrome, is a rare autosomal recessive disorder. Presentation The syndrome causes cerebellar ataxia (balance and coordination problems), intellectual disability, congenital cataracts in early childhood, muscle weakness, inability to chew food, thin brittle fingernails, and sparse hair.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. . Small stature, mild to severe intellectual disability and dysarthria (slow, imprecise speech) are usually present. Various skeletal abnormalities (e.g., curvature of the spine) and hypergonadotropic hypogonadism often occur. Muscle weakness is progressive, but life expectancy is near normal. Cause Diagnosis Diagnosis of MSS is based on clinical symptoms, magnetic resonance imaging (MRI) of the brain (cerebellar atrophy particularly involving the cerebellar vermis), and muscle biopsy. It ca ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosome, allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes is collectively known as atDNA or auDNA. For example, humans have a diploid human genome, genome that usually contains 22 pairs of autosomes and one allosome pair (46 chromosomes total). The autosome pairs are labeled with numbers (1–22 in humans) roughly in order of their sizes in base pairs, while allosomes are labelled with their letters. By contrast, the allosome pair consists of two X chromosomes in females or one X and one Y chromosome in males. Unusual combinations of XYY syndrome, XYY, Klinefelter syndrome, XXY, Triple X syndrome, XXX, XXXX syndrome, XXXX, XXXXX syndrome, XXXXX or XXYY syndrome, XXYY, among Aneuploidy, other Salome combinations, are known to occur and usually cause developmental abnormalities. Autosomes ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mitochondrial Disease
Mitochondrial disease is a group of disorders caused by mitochondrial dysfunction. Mitochondria are the organelles that generate energy for the cell and are found in every cell of the human body except red blood cells. They convert the energy of food molecules into the ATP that powers most cell functions. Mitochondrial diseases take on unique characteristics both because of the way the diseases are often inherited and because mitochondria are so critical to cell function. A subclass of these diseases that have neuromuscular symptoms are known as mitochondrial myopathies. Types Examples of mitochondrial diseases include: * Mitochondrial myopathy * Diabetes mellitus and deafness (DAD) ** this combination at an early age can be due to mitochondrial disease ** Diabetes mellitus and deafness can be found together for other reasons * Leber's hereditary optic neuropathy (LHON) ** visual loss beginning in young adulthood ** eye disorder characterized by progressive loss of central v ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genodermatoses
Genodermatosis is a hereditary skin disease with three inherited modes including single gene inheritance, multiple gene inheritance and chromosome inheritance. There are many different types of genodermatosis, the prevalence of genodermatosis ranges from 1 per 6000 people to 1 per 500,000 people.Fields, D. (2019, June). Types of Genodermatoses. Retrieved September 08, 2020, from https://www.news-medical.net/health/Types-of-Genodermatoses.aspx Genodermatosis has influence on the texture, color and structure of skin cuticle and connective tissue, specific lesion site and clinical manifestations on the body vary depending on the type. In the spite of the variety and complexity of genodermatosis, there are still some common methods that can help people diagnose. After diagnosis, different types of genodermatosis require different levels of therapy including interventions, nursing interventions and treatments.Fondation René Touraine. (n.d.). Genodermatoses & Rare Skin Disorders - a publ ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
List Of Cutaneous Conditions
Many skin conditions affect the human integumentary system—the organ system covering the entire surface of the body and composed of skin, hair, nails, and related muscle and glands. The major function of this system is as a barrier against the external environment. The skin weighs an average of four kilograms, covers an area of two square metres, and is made of three distinct layers: the epidermis, dermis, and subcutaneous tissue. The two main types of human skin are: glabrous skin, the hairless skin on the palms and soles (also referred to as the "palmoplantar" surfaces), and hair-bearing skin.Burns, Tony; ''et al''. (2006) ''Rook's Textbook of Dermatology CD-ROM''. Wiley-Blackwell. . Within the latter type, the hairs occur in structures called pilosebaceous units, each with hair follicle, sebaceous gland, and associated arrector pili muscle. In the embryo, the epidermis, hair, and glands form from the ectoderm, which is chemically influenced by the underlying mesoderm th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Skin Lesion
A skin condition, also known as cutaneous condition, is any medical condition that affects the integumentary system—the organ system that encloses the body and includes skin, nails, and related muscle and glands. The major function of this system is as a barrier against the external environment. Conditions of the human integumentary system constitute a broad spectrum of diseases, also known as dermatoses, as well as many nonpathologic states (like, in certain circumstances, melanonychia and racquet nails). While only a small number of skin diseases account for most visits to the physician, thousands of skin conditions have been described. Classification of these conditions often presents many nosological challenges, since underlying causes and pathogenetics are often not known. Therefore, most current textbooks present a classification based on location (for example, conditions of the mucous membrane), morphology ( chronic blistering conditions), cause (skin conditions resul ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Alabama
(We dare defend our rights) , anthem = "Alabama (state song), Alabama" , image_map = Alabama in United States.svg , seat = Montgomery, Alabama, Montgomery , LargestCity = Huntsville, Alabama, Huntsville , LargestCounty = Baldwin County, Alabama, Baldwin County , LargestMetro = Birmingham metropolitan area, Alabama, Greater Birmingham , area_total_km2 = 135,765 , area_total_sq_mi = 52,419 , area_land_km2 = 131,426 , area_land_sq_mi = 50,744 , area_water_km2 = 4,338 , area_water_sq_mi = 1,675 , area_water_percent = 3.2 , area_rank = 30th , length_km = 531 , length_mi = 330 , width_km = 305 , width_mi = 190 , Latitude = 30°11' N to 35° N , Longitude = 84°53' W to 88°28' W , elevation_m = 150 , elevation_ft = 500 , elevation_max_m = 735.5 , elevation_max_ft = 2,413 , elevation_max_point = Mount Cheaha , elevation_min_m = 0 , elevation_min_ft = 0 , elevation_min_point = Gulf of Mexico , OfficialLang = English language, English , Languages = * English ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
MOWA Band Of Choctaw Indians
The MOWA Band of Choctaw Indians is a state-recognized tribe, located in southwest Alabama, with a population largely based in southern Washington County and some membership in northern Mobile County. The term ''MOWA'' is a portmanteau of Mobile and Washington Counties. They were formerly named the Mobile-Washington County Band of Choctaw Indians of South Alabama. The MOWA Band of Choctaw claims to descend from Choctaw people who evaded Indian Removal in the 1830s and remained in Alabama. The Cherokee Nation includes the MOWA Band of Choctaw on its list of fraudulent tribes. Petition for federal recognition The MOWA Band of Choctaw Indians sent a letter of intent for federal recognition in 1983. They completed their petition for federal acknowledgment in 1988. Kevin Gover (Pawnee), then Assistant Secretary for Indian Affairs, and the US Department of the Interior denied their petition in 1997 and again in 1999. The final determination stated that "the Alabama group did no ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Torsten Sjögren
Karl Gustaf Torsten Sjögren ( , ; 30 January 1896 – 27 July 1974) was a Swedish psychiatrist and geneticist. He was born in Södertälje and died in Gothenburg. In Stockholm, he graduated as a licentiate of medicine in 1925, and in 1931 he became doctor of medicine and a docent of psychiatry at Lund university. Torsten Sjögren was the chairman of the International Federation of Eugenic Organizations in the late 1930s. According to Stefan Kühl in ''For the Betterment of the Race'' (originally ''Die Internationale der Rassiten'' 1997), Sjögren was submissive to the Nazi party with their increasingly controversial views on eugenics, which contributed to the disintegration of the organization in the latter half of the 1930s. Torsten Sjögren was professor of psychiatry at the Karolinska Institute from 1945 to 1961. He was elected a member of the Royal Swedish Academy of Sciences in 1951. Sjögren–Larsson syndrome is named after him (along with Tage Larsson) as well as Ma ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gheorghe Marinescu
Gheorghe Marinescu (; 28 February 1863 – 15 May 1938) was a Romanian neurologist, founder of the Romanian School of Neurology. History After attending the Faculty of Medicine of the University of Bucharest, Marinescu received most of his medical education as preparator at the laboratory of histology at the Brâncoveanu Hospital and as assistant at the Bacteriological Institute under Victor Babeș, who had already published several works on myelitis transversa, hysterical muteness, and dilatation of the pupil in pneumonia. Career After qualification, and on the recommendation of Babeş, the government awarded Marinescu a grant to undertake postgraduate training in neurology under Jean-Martin Charcot at the Salpêtrière Hospital in Paris, where he met Pierre Marie, Joseph Babinski, and Fulgence Raymond. Later, he worked with Carl Weigert in Frankfurt and then with Emil du Bois-Reymond in Berlin. On the assignment of Pierre Marie, he lectured on the pathological anatomy of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cataract
A cataract is a cloudy area in the lens of the eye that leads to a decrease in vision. Cataracts often develop slowly and can affect one or both eyes. Symptoms may include faded colors, blurry or double vision, halos around light, trouble with bright lights, and trouble seeing at night. This may result in trouble driving, reading, or recognizing faces. Poor vision caused by cataracts may also result in an increased risk of falling and depression. Cataracts cause 51% of all cases of blindness and 33% of visual impairment worldwide. Cataracts are most commonly due to aging but may also occur due to trauma or radiation exposure, be present from birth, or occur following eye surgery for other problems. Risk factors include diabetes, longstanding use of corticosteroid medication, smoking tobacco, prolonged exposure to sunlight, and alcohol. The underlying mechanism involves accumulation of clumps of protein or yellow-brown pigment in the lens that reduces transmission of li ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cerebellar Atrophy
The cerebellum (Latin for "little brain") is a major feature of the hindbrain of all vertebrates. Although usually smaller than the cerebrum, in some animals such as the mormyrid fishes it may be as large as or even larger. In humans, the cerebellum plays an important role in motor control. It may also be involved in some cognitive functions such as attention and language as well as emotional control such as regulating fear and pleasure responses, but its movement-related functions are the most solidly established. The human cerebellum does not initiate movement, but contributes to coordination, precision, and accurate timing: it receives input from sensory systems of the spinal cord and from other parts of the brain, and integrates these inputs to fine-tune motor activity. Cerebellar damage produces disorders in fine movement, equilibrium, posture, and motor learning in humans. Anatomically, the human cerebellum has the appearance of a separate structure attached to the bottom ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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