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Sjögren–Larsson Syndrome
Sjögren–Larsson syndrome is a rare autosomal recessive form of ichthyosis with neurological symptoms.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. .James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Diseases of the Skin: Clinical Dermatology''. (10th ed.). Saunders. . It can be identified by a triad of medical disorders. The first is ichthyosis, which is a buildup of skin to form a scale-like covering that causes Xerosis, dry skin and other problems. The second identifier is paraplegia which is characterized by leg spasms. The final identifier is Cognitive deficit, intellectual delay. SLS is caused by a mutation in the fatty aldehyde dehydrogenase gene found on chromosome 17. In order for a child to receive SLS both parents must be carriers of the SLS gene. If they are carriers their child has a chance of getting the disease. In 1957 Torsten Sjögren, Sjögren and Larsson proposed that the Swedes with the dise ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fatty-acid Metabolism Disorders
In chemistry, particularly in biochemistry, a fatty acid is a carboxylic acid with an aliphatic chain, which is either saturated or unsaturated. Most naturally occurring fatty acids have an unbranched chain of an even number of carbon atoms, from 4 to 28. Fatty acids are a major component of the lipids (up to 70% by weight) in some species such as microalgae but in some other organisms are not found in their standalone form, but instead exist as three main classes of esters: triglycerides, phospholipids, and cholesteryl esters. In any of these forms, fatty acids are both important dietary sources of fuel for animals and important structural components for cells. History The concept of fatty acid (''acide gras'') was introduced in 1813 by Michel Eugène Chevreul, though he initially used some variant terms: ''graisse acide'' and ''acide huileux'' ("acid fat" and "oily acid"). Types of fatty acids Fatty acids are classified in many ways: by length, by saturation vs unsatur ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Syndromes Affecting The Skin
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 with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, a synd ... [...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] |
CDC/BPA
The British Pediatric Association Classification of Diseases is a system of diagnostic codes used for pediatrics. An extension to ICD-9 was published in 1979. An extension to ICD-10 has also been published. It is the basis for the U.S. Centers for Disease Control and Prevention The Centers for Disease Control and Prevention (CDC) is the national public health agency of the United States. It is a United States federal agency, under the Department of Health and Human Services, and is headquartered in Atlanta, Georgi ...'s six digit codes for reportable congenital conditions. These are also known as the "CDC/BPA codes". This system is in turn is the basis for the Texas Disease Index. References Diagnosis classification {{UK-med-org-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ILDS
The International League of Dermatological Societies (ILDS) is a non-governmental organization that works closely with the World Health Organization. It was founded in 1935, but because of World War II no congresses were held until 1952. It is governed by the International Committee of Dermatology. The ILDS is the parent organization of the International Foundation for Dermatology, founded in 1987. After the publication of ICD-10, the ILDS produced a series of compatible extensions for use in dermatology Dermatology is the branch of medicine dealing with the skin.''Random House Webster's Unabridged Dictionary.'' Random House, Inc. 2001. Page 537. . It is a speciality with both medical and surgical aspects. A dermatologist is a specialist medical .... References External links Official site HistoryInternational Foundation for DermatologyApplication to Dermatology of International Classification of Disease (ICD-11) Organizations established in 1935 Dermatology organi ... [...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] |
Shabbir Syndrome
Laryngo-onycho-cutaneous syndrome (also known as Shabbir syndrome) is a rare epithelial disorder inherited in an autosomal recessive fashion. It is characterized by abnormalities in the larynx, nails (" onycho-"), and skin ("cutaneous"). The disorder is only found in Punjabi Muslims and only a few cases have been reported. It was characterized by Pakistani dermatologist Syed Ghulam Shabbir (1923–2002) in 1986. It may be associated with ''LAMA3''. See also * Watson syndrome * List of cutaneous conditions References External links Laryngo-onycho-cutaneous syndromeon MedlinePlus MedlinePlus is an online information service produced by the United States National Library of Medicine. The service provides curated consumer health information in English and Spanish with select content in additional languages. The site brings t ... Genodermatoses Syndromes affecting the skin {{Dermatology-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Henrik Sjögren
Henrik Samuel Conrad Sjögren (, , ; 23 July 1899, Köping, Sweden, Köping – 17 September 1986, Lund) was a Sweden, Swedish ophthalmologist best known for describing the eponymous condition Sjögren syndrome. Sjögren received his medical degree in Stockholm 1927. His first experience with the syndrome was an encounter with a 49-year-old woman with arthritis and extreme dryness of the eyes and the mouth. He worked with his wife, Maria to describe a total of 19 cases and presented these cases for his doctoral theses in 1933, which was published as his doctoral thesis at the Karolinska Institute titled "On knowledge of keratoconjunctivitis"Sjogren H. On knowledge of kerataconjunctivitis sicca. Keratitis filiformis due to lacrimal gland hypofunction. Acts Opthslmol 1933; Suppl 2:1-151 that eventually served as the basis of identifying and naming of Sjögren's syndrome. He had one child born in 1934 named Gunvor. References [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tage Konrad Leopold Larsson
Tage is a masculine given name with Danish origins. People with the name include: * Tage Åsén (born 1943), Swedish artist * Tage Aurell (1895–1976), Swedish journalist and novelist * Tage Brauer (1894–1988), Swedish athlete * Tage Danielsson (1928–1985), Swedish writer and comedian * Tage Frid (1915–2004), Danish-born woodworker and teacher * Tage Ekfeldt (1926–2005), Swedish sprinter * Tage Erlander (1901–1985), 25th Prime Minister of Sweden * Tage Flisberg (1917–1989), Swedish table tennis player * Tage Fahlborg (1912–2005), Swedish canoeist * Tage Grøndahl (1931–2014), Danish rower * Tage Grönwall (1903–1988), Swedish diplomat * Tage Henriksen (1925–2016), Danish rower * Tage Holmberg (1913–1989), Swedish film editor * Tage Johnson (1878–1950), Swedish rower * Tage Jönsson (1920–2001), Swedish racewalker * Tage Jørgensen (1918–1999), Danish fencer * Tage Lindbom (1909–2001), Swedish political writer * Tage Lundin (1933–2019), Swedish ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Anti-convulsant
Anticonvulsants (also known as antiepileptic drugs or recently as antiseizure drugs) are a diverse group of pharmacological agents used in the treatment of epileptic seizures. Anticonvulsants are also increasingly being used in the treatment of bipolar disorder and borderline personality disorder, since many seem to act as mood stabilizers, and for the treatment of neuropathic pain. Anticonvulsants suppress the excessive rapid firing of neurons during seizures. Anticonvulsants also prevent the spread of the seizure within the brain. Conventional antiepileptic drugs may block sodium channels or enhance γ-aminobutyric acid ( GABA) function. Several antiepileptic drugs have multiple or uncertain mechanisms of action. Next to the voltage-gated sodium channels and components of the GABA system, their targets include GABAA receptors, the GAT-1 GABA transporter, and GABA transaminase. Additional targets include voltage-gated calcium channels, SV2A, and α2δ. By blocking sodium or calc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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