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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 Marinesco–Sjögren syndrome can be associated with mutations of the SIL1 gene. SIL1 gene is located on chromosome Chromosome 5, 5q31.2 Diagnosis Diagnosis of MSS is based on clinical symptoms, ... [...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 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 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 XYY, XXY, XXX, XXXX, XXXXX or XXYY, among other irregular combinations, are known to occur and usually cause developmental abnormalities. Autosomes still contain sexual determination genes even though they are not sex chromosomes. For example, the SRY gene on the Y chrom ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lowe Syndrome
Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia, intellectual disability, proximal tubular acidosis, aminoaciduria and low-molecular-weight proteinuria. Lowe syndrome can be considered a cause of Fanconi syndrome (bicarbonaturia, renal tubular acidosis, potassium loss and sodium loss). Signs and symptoms Boys with Lowe syndrome are born with cataracts in both eyes; glaucoma is present in about half of the individuals with Lowe syndrome, though usually not at birth. While not present at birth, kidney problems develop in many affected boys at about one year of age. Renal pathology is characterized by an abnormal loss of certain substances into the urine, including bicarbonate, sodium, potassium, amino acids, organic acids, albumin, calcium and L-carnitine. This problem is known as Fanconi-type renal tubular dysfunction. Genetics This syndrome is caused by mutations in the '' OCRL'' ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genodermatoses
Genodermatosis is a hereditary Skin condition, 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 D ... [...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 Human body, body and composed of Human skin, skin, hair, Nail (anatomy), 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 (skin), 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. Embryology, In the embryo, the epidermis, hair, and glands form from the ectod ... [...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 ... [...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. Biography 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 ... [...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 anato ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Alabama
Alabama ( ) is a U.S. state, state in the Southeastern United States, Southeastern and Deep South, Deep Southern regions of the United States. It borders Tennessee to the north, Georgia (U.S. state), Georgia to the east, Florida and the Gulf of Mexico to the south, and Mississippi to the west. Alabama is the List of U.S. states and territories by area, 30th largest by area, and the List of U.S. states and territories by population, 24th-most populous of the List of states and territories of the United States, 50 U.S. states. Alabama is nicknamed the ''Northern flicker, Yellowhammer State'', after the List of U.S. state birds, state bird. Alabama is also known as the "Heart of Dixie" and the "Cotton State". The state has diverse geography, with the north dominated by the mountainous Tennessee Valley and the south by Mobile Bay, a historically significant port. Alabama's capital is Montgomery, Alabama, Montgomery, and its largest city by population and area is Huntsville, Ala ... [...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 d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cataract
A cataract is a cloudy area in the lens (anatomy), lens of the eye that leads to a visual impairment, decrease in vision of the eye. Cataracts often develop slowly and can affect one or both eyes. Symptoms may include faded colours, blurry or double vision, halos around light, trouble with bright lights, and Nyctalopia, difficulty 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 (accident), falling and Depression (mood), depression. Cataracts cause 51% of all cases of blindness and 33% of visual impairment worldwide. Cataracts are most commonly due to senescence, aging but may also occur due to Trauma (medicine), trauma or radiation exposure, be congenital cataract, present from birth, or occur following eye surgery for other problems. Risk factors include diabetes mellitus, diabetes, longstanding use of corticosteroid medication, smoking tobacco, prolonged exposu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cerebellar Atrophy
The cerebellum (: cerebella or cerebellums; 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 it or even larger. In humans, the cerebellum plays an important role in motor control and 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 botto ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Intellectual Disabilities
Intellectual disability (ID), also known as general learning disability (in the United Kingdom), and formerly mental retardation (in the United States), Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010).Archive is a generalized neurodevelopmental disorder characterized by significant impairment in intellectual and adaptive functioning that is first apparent during childhood. Children with intellectual disabilities typically have an intelligence quotient (IQ) below 70 and deficits in at least two adaptive behaviors that affect everyday living. According to the DSM-5, intellectual functions include reasoning, problem solving, planning, abstract thinking, judgment, academic learning, and learning from experience. Deficits in these functions must be confirmed by clinical evaluation and individualized standard IQ testing. On the other hand, adaptive behaviors include the social, developmental, and practical skills people learn to perform tasks in their everyday lives. Deficits in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
