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Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. ISBN 0-7216-2921-0 . ^ a b Sulisalo T, Makitie O, Sistonen P, Ridanpaa M, el Rifai W, Ruuskanen O, de la Chapelle A, Kaitila L (1997). ... Genomics . 6 (3): 540–544. doi : 10.1016/0888-7543(90)90483-b . PMID 2328993 . ^ Topper, J.
Cartilage-hair hypoplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities; fine, sparse hair (hypotrichosis ); and abnormal immune system function (immune deficiency) that can lead to recurrent infections. People with cartilage-hair hypoplasia have unusually short limbs and short stature from birth. They typically have malformations in the cartilage near the ends of the long bones in the arms and legs (metaphyseal chondrodysplasia), which then affects development of the bone itself. Most people with cartilage-hair hypoplasia are unusually flexible in some joints, but they may have difficulty extending their elbows fully. Affected individuals have hair that is lighter in color than that of other family members because the core of each hair, which contains some of the pigment that contributes the hair's color, is missing.
A number sign (#) is used with this entry because cartilage-hair hypoplasia (CHH) is caused by homozygous or compound heterozygous mutation in the RMRP gene (157660) on chromosome 9p13. Description Cartilage-hair hypoplasia (CHH) is an autosomal recessive metaphyseal chondrodysplasia characterized by short-limbed short stature and fine, sparse hair. Additional features include ligamentous laxity, defective immunity, hypoplastic anemia, and neuronal dysplasia of the intestine (summary by Ridanpaa et al., 2001). CHH was first recognized by McKusick et al. (1965) in the Old Order Amish, a religious isolate (see also McKusick, 1978), and was later recognized as exceptionally prevalent in the Finnish population (Makitie, 1992). Clinical Features McKusick et al. (1965) described cartilage-hair hypoplasia in several Amish families.
Cartilage-hair hypoplasia is a disorder of bone growth characterized by short stature ( dwarfism ) with other skeletal abnormalities; fine, sparse hair (hypotrichosis); and abnormal immune system function (immune deficiency) that can lead to recurrent infections. Signs and symptoms may vary among affected individuals. People with this condition are also at an increased risk of developing cancer, particularly blood, skin, and immune system cancers. Gastrointestinal problems are also common. Cartilage-hair hypoplasia is caused by mutations in the RMRP gene and is inherited in an autosomal recessive fashion.
Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth. Epidemiology Prevalence is unknown. Clinical description The disease is associated with fine, slow growing hair, and sometimes with immune deficiencies. Other symptoms include short hands and possibly short, deformed limbs (varus). X-ray reveals metaphyseal lesions, especially in the knees, and large, round epiphyses during childhood. Short stature is common and has very early onset but immune deficiency is not always present.
Ghosal hematodiaphyseal dysplasia is a rare inherited condition characterized by abnormally thick bones and a shortage of red blood cells (anemia ). Signs and symptoms of the condition become apparent in early childhood. In affected individuals, the long bones in the arms and legs are unusually dense and wide. The bone changes specifically affect the shafts of the long bones, called diaphyses, and areas near the ends of the bones called metaphyses. The bone abnormalities can lead to bowing of the legs and difficulty walking.
Ghosal hematodiaphyseal dysplasia syndrome (GHDD) is a rare disorder characterized by increased bone density (predominantly diaphyseal) and aregenerative corticosteroid-sensitive anemia. Epidemiology The exact prevalence is unknown. GHDD has been reported in unrelated families of Indian and Middle East origin. Etiology GHDD is associated with mutations in the TBXAS1 gene (which encodes thromboxane synthase). Genetic counseling GHDD is transmitted as an autosomal recessive trait.
A number sign (#) is used with this entry because of evidence that Ghosal heamtodiaphyseal dysplasia (GHDD) can be caused by homozygous mutation in the TBXAS1 gene (274180), which encodes thromboxane synthase (TXAS), on chromosome 7q34. Clinical Features Ghosal et al. (1988) presented 5 patients with a particular form of diaphyseal dysplasia and refractory anemia. In spite of certain similarities to Camurati-Engelmann disease (131300), major differences were noted. Most notably, in Camurati-Engelmann disease, only the diaphyses are involved, whereas in the disorder described by Ghosal et al. (1988), both diaphyses and metaphyses were affected. Gumruk et al. (1993) described an affected brother and sister, aged 8 and 4 years, respectively, with diaphyseal dysplasia, severe anemia, leukopenia, and thrombocytopenia.
Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. Epidemiology Prevalence of this disorder is not known. Clinical description The disease typically presents very early in life (<1 to 4 weeks), although rare later onset cases have been observed, with features including lethargy, failure to thrive, recurrent vomiting, dehydration, respiratory distress, muscle hypotonia, developmental delay, intellectual deficit, hepatomegaly and coma. Patients may show signs of anemia. They may also have potentially life-threatening ketoacidosis and/or hyperammonemia, renal and neurological complications, metabolic stroke and cardiomyopathy. Etiology The disease is caused by complete deficiency in the activity of the mitochondrial enzyme methylmalonyl-CoA mutase which is a result of mutations in the MUT gene (6p21). Genetic counseling It is transmitted as an autosomal recessive trait.
Matsui et al. (1983) collected detailed information on 45 patients with MMA: 15 with mut(0) type, 5 with mut(-), 14 with cblA, and 11 with cblB. ... Other common features included hepatomegaly, developmental delay, and coma. Mut(0) patients presented earlier in infancy than the 3 other groups. ... Most cblA and nearly half of cblB patients showed a decrease in urine and blood concentrations of methylmalonic acid in response to vitamin B12 supplementation, whereas none of the mut(0) or mut(-) responded. Most cblA, cblB, and mut(-) patients were still living at the time of the report; most mut(0) patients died during the first few months of life. Shevell et al. (1993) compared the clinical features in 11 mut(0) patients with those in 9 mut(-) patients. ... All the patients exhibited a severe mut(0) methylmalonic acidemia phenotype, and 3 of them were homozygous for the mutation.
Vitamin B12-unresponsive methylmalonic acidemia is an inborn error of vitamin B12 (cobalamin) metabolism characterized by recurrent ketoacidotic crises or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. There are two types of vitamin B12-unresponsive methylmalonic acidemia: mut0 and mut- (see these terms). Epidemiology Prevalence of 1/48,000-1/61,000 has been reported for methylmalonic aciduria of all causes in North America, and 1/26,000 in China, but only a subset of this is vitamin B12-unresponsive methylmalonic acidemia. Clinical description Patients with vitamin B12-unresponsive methylmalonic acidemia without homocystinuria typically present very early in life (<1 to 4 weeks) with features including lethargy, failure to thrive, recurrent vomiting, dehydration, respiratory distress, muscular hypotonia, hepatomegaly and coma. Later-onset manifestations may include developmental delay and intellectual deficit.
Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12. Epidemiology Prevalence of this form of the disorder is not known. More than 450 cases have been reported to date. Clinical description The disease typically presents very early in life (<1 to 4 weeks), although later onset cases have been observed, with features including lethargy, failure to thrive, recurrent vomiting, dehydration, respiratory distress, muscle hypotonia, developmental delay, intellectual deficit, hepatomegaly and coma. Patients may show signs of anemia. They may also have potentially life-threatening ketoacidosis and/or hyperammonemia, renal and neurological complications, metabolic stroke and cardiomyopathy. mut- is generally less severe than vitamin B12-unresponsive methylmalonic acidemia type mut0 (see this term) and may in some cases respond to vitamin B12 therapy. Long term complications include metabolic stroke and development of end stage renal failure.
A number sign (#) is used with this entry because pachyonychia congenita-4 (PC4) is caused by heterozygous mutation in the KRT6B gene (148042) on chromosome 12q13. Description Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). For a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita.
Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa. Epidemiology The prevalence is not known but approximately 1000 patients have been registered to date worldwide. Clinical description PC presents clinically as a spectrum of conditions. PC onset is variable with most cases manifesting soon after birth, others becoming clinically apparent only in late childhood and rarely in adulthood. The first signs of the disease usually are thickened nails or neonatal teeth.
Pachyonychia congenita (PC) is a rare inherited condition that primarily affects the nails and skin. The fingernails and toenails may be thickened and abnormally shaped . Affected people can also develop painful calluses and blisters on the soles of their feet and less frequently on the palms of their hands ( palmoplantar keratoderma ). Additional features include white patches on the tongue and inside of the mouth (leukokeratosis); bumps around the elbows, knees, and waistline (follicular hyperkeratosis); and cysts of various types including steatocystoma. Features may vary among affected people depending on their specific mutation.
For a phenotypic description and a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. Inheritance Chong-Hai and Rajagopalan (1977) suggested autosomal recessive inheritance of pachyonychia congenita in a 4-year-old Malaysian girl with first-cousin parents, although they recognized new dominant mutation as a possibility. See also Sivasundram et al. (1985). INHERITANCE - Autosomal recessive HEAD & NECK Mouth - No oral leukoplakia SKIN, NAILS, & HAIR Skin - Horny papules (face, leg, buttocks) - No palmoplantar hyperkeratosis - No hyperhidrosis Nails - Episodic inflammatory swelling of nail bed - Recurrent shedding of nails - Hard,thickened nails (pachyonychia) - Subungual hyperkeratosis MISCELLANEOUS - See also pachyonychia congenita, type 3 (PC1, 167200 ) ▲ Close
A number sign (#) is used with this entry because pachyonychia congenita-3 (PC3) is caused by heterozygous mutation in the keratin-6a gene (KRT6A; 148041) on chromosome 12q13. Description Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). For a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita.
A number sign (#) is used with this entry because of evidence that pachyonychia congenita-2 (PC2) is caused by heterozygous mutation in the KRT17 gene (148069) on chromosome 17q21. Description Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). For a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita.
A number sign (#) is used with this entry because pachyonychia congenita-1 (PC1) is caused by heterozygous mutation in the keratin-16 gene (KRT16; 148067) on chromosome 17q21. Description Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). Historical Classification of Pachyonychia Congenita Gorlin et al. (1976) suggested that 2 distinct syndromes are subsumed under the designation pachyonychia congenita. PC type 1, the Jadassohn-Lewandowsky type, shows oral leukokeratosis.
Characteristics [ edit ] Botellón usually begins around 11:00 p.m. and ends around 3:00 a.m. when many people move to a bar or club. ... Since botellón is usually a nighttime activity, Spain passed a law that prohibits stores to sell alcohol to the public after 10:00 p.m, hoping to persuade people to attend clubs or bars where alcohol must remain on site. [ citation needed ] However, the measure is a controversial one because people can still buy alcohol before the selling limit hour and consume it in public. ... One example of a macro-botellón was on 17 March 2006, "Half of Spain [met] on the net to organize a macro-botellón". [13] The macro-botellón was organized in cities around Spain, such as Madrid, Barcelona, Sevilla, Oviedo, Murcia, Vitoria, Málaga, Córdoba, Granada, and Jaén. [14] One of the purposes of the macro-botellón on 17 March 2006, near the Faro de Moncloa in Madrid, Spain, was to protest against the municipal restrictions on drinking alcohol in the streets. ... CS1 maint: archived copy as title ( link ) ^ "Media España se cita en la Red para celebrar un macrobotellón el 17 de marzo" . 2006-03-07. ^ http://www.20minutos.es/noticia/97295/0/macrobotellones/ciudades/espana/ | Literally translated from Spanish ^ "El Ayuntamiento "no consentirá" el macrobotellón que se prepara en Moncloa" . 2006-03-07.
In Dogger Bank itch, sensitivity is acquired after repeated handling of the sea chervils that become entangled in fishing nets. [ citation needed ] The specific toxin responsible for the rash was determined to be the sulfur -bearing salt (2-hydroxyethyl) dimethylsulfoxonium chloride. [3] This salt is also found in some sea sponges and has potent in vitro activity against leukemia cells. [4] Treatment [ edit ] A study of two cases in 2001 suggests that the rash responds to oral ciclosporin . ... The sea chervil, abundant in the area, frequently came up with the fishing nets and had to be thrown back into the water. ... Andrews' Diseases of the Skin: clinical Dermatology . Saunders Elsevier. ISBN 978-0-7216-2921-6 . ^ Bonnevie, P. (1948). ... Comparative Biochemistry and Physiology B . 128 (1): 27–30. doi : 10.1016/S1096-4959(00)00316-X . CS1 maint: multiple names: authors list ( link ) ^ a b Bowers PW, Julian CG., PW; Julian, CG (2001).
A rare glial tumor characterized by a highly cellular lesion that is diffusly infiltrating at the periphery and consists of evenly-spaced monomorphic cells with the oligodendroglial phenotype. It typically occurs in the supratentorial white matter. Histologically, the cells are uniformly round to oval with round nuclei, delicate chromatin and small nucleoli. Most patients present with seizures.
Oligodendrogliomas are cerebral tumors that are differentiated from other gliomas on the basis of their unique genetic characteristics and better response to chemotherapy. These tumors are classified according to their grade (low grade oligodendrogliomas: grade II of the WHO classification and anaplastic oligodendrogliomas: grade III of the WHO classification) and according to their pure or mixed histology (oligoastrocytomas). Epidemiology Until now, the incidence of these tumors has been largely underestimated. Oligodendrogliomas may represent up to 30% of all adult gliomas. Annual incidence can therefore be estimated at around one new case per 100,000 individuals per year. Prevalence is estimated at 1/300,000. Clinical description Low grade tumors are usually diagnosed after a prolonged history of seizures and headaches.
Oligodendrogliomas are brain tumors arising from oligodendrocytes, a type of cell that makes up the supportive (glial) tissue of the brain. They can be low-grade (grade II) or high-grade (grade III, also called anaplastic). While they can be found anywhere within the cerebral hemisphere, they are most common in the frontal and temporal lobes. They are generally soft, grayish-pink tumors that often contain mineral deposits (calcifications), areas of hemorrhage, and/or cysts. They tend to grow slowly and may be present for many years before they are diagnosed.
Amelogenesis imperfecta (AI) (amelogenesis - enamel formation; imperfecta - imperfect) is a disorder that affects the structure and appearance of the enamel of the teeth . This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage with early tooth decay and loss. These dental problems, which vary among affected individuals, can affect both primary (baby) teeth and permanent teeth. People with this disease my also have problems involving the tissues surrounding teeth (periodontal tissues) such as gums, cementum, ligaments, and alveolar bones in which the tooth root rests. Teeth are also sensitive to either hot or cold exposures, and sometimes both.
A number sign (#) is used with this entry because of evidence that amelogenesis imperfecta type IF (AI1F) is caused by homozygous mutation in the ameloblastin gene (AMBN; 601259) on chromosome 4q13. Description Amelogenesis imperfecta type IF is characterized by hypoplastic enamel of the primary and secondary dentition. The teeth may appear rough and discolored, and the tooth enamel may be absent, pitted, or of varying thickness (Poulter et al. (2014)). Clinical Features Poulter et al. (2014) described a consanguineous Costa Rican family with generalized hypoplastic amelogenesis imperfecta involving the primary and secondary dentitions. Clinical examination of the 3 affected sisters revealed enamel that was hard, but discolored and rough.
A number sign (#) is used with this entry because of evidence that amelogenesis imperfecta type IH (AI1H) is caused by homozygous or compound heterozygous mutation in the integrin beta-6 gene (ITGB6; 147558) on chromosome 2q24. Description Amelogenesis imperfecta type IH is characterized by hypoplastic and hypomineralized tooth enamel that may be rough, pitted, and/or discolored (Wang et al., 2014 and Poulter et al., 2014). Clinical Features Wang et al. (2014) reported 2 Hispanic families segregating amelogenesis imperfecta. In Family 1, a 7-year-old girl had enamel malformations in the absence of other symptoms. She had mixed dentition that was yellow, with anterior open bite and class III malocclusion.
A number sign (#) is used with this entry because of evidence that hypocalcified amelogenesis imperfecta type IIIA (AI3A) is caused by heterozygous mutation in the FAM83H gene (611927) on chromosome 8q24. Description Hypocalcified amelogenesis imperfecta is characterized by enamel of normal thickness on newly erupted and unerupted and unresolved teeth. The enamel is soft and may be lost soon after eruption leaving the crown composed only of dentin. The enamel has a cheesy consistency and can be scraped from the dentin. An anterior open bite has been recorded in over 60% of the cases observed.
For a description of hypoplastic/hypomaturation amelogenesis imperfecta, see 301200. Mapping See 301200 for description of findings in a family suggesting that one form of amelogenesis imperfecta is determined by a mutation in a gene in the Xq22-q28 region (Aldred et al., 1992). This gene may be another reflection of homeology of portions of the 2 arms of the X chromosome resulting from an ancient duplication. INHERITANCE - X-linked HEAD & NECK Teeth - Amelogenesis imperfecta, hypoplastic ▲ Close
A number sign (#) is used with this entry because of evidence that amelogenesis imperfecta type IA (AI1A) is caused by heterozygous mutation in the beta-3 laminin gene (LAMB3; 150310) on chromosome 1q32. Description Hypoplastic amelogenesis imperfecta IA is characterized by enamel that may not develop to normal thickness. The enamel may have pits on the labial or buccal surfaces that are often arranged in rows and columns (see Witkop, 1989). Clinical Features Kim et al. (2013) described 2 unrelated families of Turkish and Iranian descent, respectively, with autosomal dominant hypoplastic amelogenesis imperfecta. The proband in Family 1 was a 6.5-year-old girl who presented with sensitive teeth.
A number sign (#) is used with this entry because amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism can be caused by mutation in the DLX3 gene (600525). Clinical Features Congleton and Burkes (1979) and Crawford et al. (1988) described amelogenesis imperfecta of the hypomaturation-hypoplasia type with taurodontism. The dental findings were apparently identical to those of trichodentoosseous syndrome (TDO; 190320), from which it differed only by the lack of changes in the hair and bones. Crawford and Aldred (1990) reviewed all reported cases of these disorders, obtaining additional information from the original authors. They concluded that 'if the teeth are affected in the absence of hair or bone changes, either in the individual or within the family, then the diagnosis should be deemed to be AI H-H T.'
A rare genetic odontal or periodontal disorder that represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body. Epidemiology The prevalence varies from 1:700 to 1:14,000, according to the populations studied. Clinical description The enamel may be hypoplastic, hypomineralised or both, and affected teeth may be discoloured, sensitive or prone to disintegration. Amelogenesis imperfecta (AI) exists in isolation or associated with other abnormalities as part of a syndrome. Etiology In families with an X-linked form, it has been shown that the disorder may result from mutations in the amelogenin gene, AMELX .
A number sign (#) is used with this entry because amelogenesis imperfecta type IB (AI1B) is caused by heterozygous mutation in the enamelin gene (ENAM; 606585) on chromosome 4q13. Clinical Features Weinmann et al. (1945) made the useful division of enamel defects into 2 classes: (1) hereditary enamel hypoplasia, in which the enamel is hard but deficient in quantity, and (2) hereditary enamel hypocalcification, in which the enamel is soft and undercalcified but normal in quantity and histology (see 130900). In autosomal dominant local hypoplastic amelogenesis imperfecta, the hypoplastic defect is a horizontal row of pits, linear depressions, or one large hypoplastic area in the enamel with hypocalcification of the enamel adjacent to and below the hypoplastic area. These defects appear most prominent on the buccal surfaces of the teeth involving the middle third of the enamel. The incisal edge or occlusal surface is usually not involved (Witkop, 1957; Witkop and Sauk, 1976).
A number sign (#) is used with this entry because autosomal recessive local hypoplastic amelogenesis imperfecta (AI1C) is caused by homozygous mutation in the enamelin gene (ENAM; 606585) on chromosome 4q13. Clinical Features In the course of an extensive survey, Chosack et al. (1979) found several families with autosomal recessive local hypoplastic amelogenesis imperfecta. Characteristics included horizontal pitting and grooving more pronounced in the middle third of the crowns of most teeth of both dentitions. In a study of 50 patients with amelogenesis imperfecta, Rowley et al. (1982) found that anterior open-bite malocclusion occurred in 24%, and was always associated with a severe discrepancy in the vertical relationship of the jaws. Vertical dysgnathia also occurred in a further 20% of the patients who did not have anterior open-bite malocclusion.
Waterhouse et al. [3] recommend: Time zones Local time to avoid light at destination Local time to seek light at destination East 6h 03:00–09:00 11:00–17:00 East 7h 04:00–10:00 12:00–18:00 East 8h 05:00–11:00 13:00–19:00 East 9h 06:00–12:00 14:00–20:00 Travelling east by 10 hours or more is usually best managed by assuming it is a 14-hour westward transition and delaying the body clock. [3] A customised jet lag program can be obtained from an online jet lag calculator.
. ^ "Deaths in the district of Inveresk and Musselburgh in the County of Edinburgh" . Statutory Deaths 689/00 0032 . ScotlandsPeople . Retrieved 11 April 2015 . External links [ edit ] Classification D ICD-O : 8011/0, 8011/3 Wikimedia Commons has media related to Epithelioma .
The Lancet . 156 (4011): 89–95. doi : 10.1016/S0140-6736(00)65681-7 . ^ a b c d Weisse, ME (31 December 2000). ... The Lancet . 357 (9252): 299–301. doi : 10.1016/S0140-6736(00)03623-0 . PMID 11214144 . S2CID 35896288 . ^ Dukes-Filatov disease at Who Named It?
The Lancet . 156 (4011): 89–95. doi : 10.1016/S0140-6736(00)65681-7 . ^ Weisse, Martin E (31 December 2000). ... The Lancet . 357 (9252): 299–301. doi : 10.1016/S0140-6736(00)03623-0 . PMID 11214144 . S2CID 35896288 . ^ Powell, KR (January 1979). ... The Journal of Pediatrics . 78 (6): 958–67. doi : 10.1016/S0022-3476(71)80425-0 . PMID 4252715 . ^ Morens, David M; Katz, Alan R; Melish, Marian E (31 May 2001). ... The Lancet . 357 (9273): 2059. doi : 10.1016/S0140-6736(00)05151-5 . PMID 11441870 . S2CID 35925579 .
A rare staphylococcal toxemia caused by epidermolytic toxins of Staphylococcus aureus and characterized by the appearance of widespread erythematous patches, on which large blisters develop. Upon rupture of these blisters, the skin appears reddish and scalded. The lesions typically begin in the face and rapidly expand to other parts of the body. The disease may be complicated by pneumonia and sepsis. It most commonly affects newborns and infants.
Clinical Features Lisch et al. (1992) described 5 family members and 3 unrelated patients (4 males, 4 females), aged 23 to 71 years, with bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns. Retroillumination showed that the opacities consisted of intraepithelial, densely crowded, clear microcysts. Light and electron microscopy disclosed diffuse vacuolization of the cytoplasm of epithelial cells in the affected area. Visual acuity was so reduced in 3 patients that abrasion of the corneal epithelium was performed. The corneal abnormalities recurred within months, with the same reduction in visual acuity as before.
Lisch epithelial corneal dystrophy (LECD) is a very rare form of superficial corneal dystrophy characterized by feather-shaped opacities and microcysts in the corneal epithelium arranged in a band-shaped and sometimes whorled pattern, occasionally with impaired vision. Epidemiology Exact prevalence of this form of corneal dystrophy is not known but very few cases have been reported to date. LECD has been documented in one German family and in rare sporadic cases in Germany and the USA. Clinical description Lesions generally develop in childhood. Epithelial opacities are slowly progressive and painless blurred vision sometimes occurs after 60 years of age. Etiology The exact cause is unknown but appears to be genetic. The gene related to Lisch epithelial corneal dystrophy has been mapped to the short arm of the X chromosome (Xp22.3).
Elsevier Health Sciences . p. 1599. ISBN 978-0-323-09161-9 . ^ Lardenoije C, Aardenburg R, Mertens H (2009-05-26). ... Elsevier Health Sciences. ISBN 978-0-323-09161-9 . ^ a b c Heinonen PK (March 2006). ... European Journal of Endocrinology . 176 (4): R167–R181. doi : 10.1530/eje-16-0888 . PMID 28115464 . ^ a b c d e f g Lensen EJ, Withagen MI, Kluivers KB, Milani AL, Vierhout ME (October 2013).
The chalky grayish-white particles within the tumor mass correspond to foci of cartilage on histology; the semi-translucent membrane covering the lens in some tumors corresponds to spreading neoplastic cells. [4] [6] Tumor cells form a characteristic diktyomatous pattern, with folded cords and sheets resembling a fisherman's net. [3] In early development of the retina, the medullary epithelial cells acquire polarity, such that a basement membrane associated with the vitreous forms the internal limiting membrane on one side, while terminal bars form the outer limiting membrane on the other side. ... American Journal of Ophthalmology . 130 (3): 364–366. doi : 10.1016/S0002-9394(00)00542-0 . ^ a b c d e Vajaranant, Thasarat S.; Mafee, Mahmood F.; Kapur, Rashmi; Rapoport, Mark; Edward, Deepak P. ... American Journal of Ophthalmology . 133 (6): 841–843. doi : 10.1016/S0002-9394(02)01432-0 . ^ Janss, Anna J.; Yachnis, Anthony T.; Silber, Jeffrey H.; Trojanowski, John Q.; Lee, Virginia M.
Medulloepithelioma of the central nervous system is a rare, primitive neuroectodermal tumor characterized by papillary, tubular and trabecular arrangements of neoplastic neuroepithelium, mimicking the embryonic neural tube, most commonly found in the periventricular region within the cerebral hemispheres, but has also been reported in brainstem and cerebellum. It usually presents in childhood with headache, nausea, vomiting, facial nerve paresis, and/or cerebellar ataxia, and typically has a progressive course, highly malignant behavior and poor prognosis. Hearing and visual loss have also been observed.
Medulloepithelioma Histopathology of medulloepithelioma showing characteristic neural tube like strands. Specialty Neurosurgery , oncology Medulloepithelioma is a rare, primitive, fast-growing brain tumour thought to stem from cells of the embryonic medullary cavity . [1] Tumours originating in the ciliary body of the eye are referred to as embryonal medulloepitheliomas, [1] or diktyomas . [2] A highly malignant undifferentiated primitive neuroepithelial tumour of children, medulloepithelioma may contain bone , cartilage , skeletal muscle , and tends to metastasize extracranially. [2] Contents 1 Signs and symptoms 2 Diagnosis 2.1 Classification 3 Treatment 4 Prognosis 5 Epidemiology 6 References 7 External links Signs and symptoms [ edit ] Medulloepithelioma have been reported to occur in the cerebral hemispheres , brainstem , cerebellum , and peripheral sites . [3] [4] [5] [6] Due to rapid growth of the tumour, patients typically present with increased intracranial pressure , seizures , and focal neurologic signs . [7] Diagnosis [ edit ] Neuronal differentiation, ranging from neuroblasts to ganglion cells, is seen in some medulloepitheliomas. Imaging studies such as Computerized Tomography (CT) and Magnetic Resonance Imaging (MRI) can aid diagnosis . Medulloepithelioma appears isodense or hypodense with variable heterogeneity and calcification on non-contrast CT scan, and enhances with contrast. [3] This radiographical finding is consistent with a primitive neuroectodermal tumour, especially in children. [6] Blood studies and imaging studies of the abdomen may be used to detect metastases. [6] Needle aspiration biopsy can be used to aid diagnosis. [6] Definitive diagnosis requires histopathological examination of surgically excised tumour tissues. Histologically, medulloepithelioma resemble a primitive neural tube and with neuronal, glial and mesenchymal elements. [8] [9] Flexner-Wintersteiner rosettes may also be observed. [10] Immunohistochemically , neural tube-like structures are vimentin positive in the majority of medulloepitheliomas. [11] Poorly differentiated medulloepitheliomas are vimentin negative.
It is important to time the blood collection with the known periodicity of the microfilariae (between 10:00 a.m. and 2:00 p.m.). [8] The blood sample can be a thick smear, stained with Giemsa or haematoxylin and eosin (see staining ). ... A study of Peace Corps volunteers in the highly Loa—endemic Gabon, for example, had the following results: 6 of 20 individuals in a placebo group contracted the disease, compared to 0 of 16 in the DEC-treated group. Seropositivity for antifilarial IgG antibody was also much higher in the placebo group. ... Because the vector is day-biting, mosquito (bed) nets do not increase protection against loiasis. [ citation needed ] Vector elimination strategies are an interesting consideration. ... Andrews' Diseases of the Skin: clinical Dermatology . Saunders Elsevier. ISBN 978-0-7216-2921-6 . ^ Osuntokun O, Olurin O (March 1975). ... Lancet . 356 (9235): 1077–78. doi : 10.1016/S0140-6736(00)02733-1 . PMID 11009145 . S2CID 11743223 . ^ Chippaux JP, Bouchité B, Demanou M, Morlais I, Le Goff G (September 2000).
Loiasis is a form of filariasis (see this term), caused by the parasitic worm Loa loa , endemic to the forest and savannah regions of Central and Western Africa. Loiasis may either be asymptomatic or manifest as a large, transient area of localized, non-erythematous subcutaneous edema (Calabar swellings), adult worm migration through the sub-conjunctiva (''African eye worm'') and pruritus. Generalized itching, hives, muscle pains, arthralgias, fatigue, and adult worms visibly migrating under the surface of the skin may be observed. Severe complications such as encephalopathy have been reported in highly infected individuals receiving ivermectin during mass drug administration programs for the control of onchocerciasis and lymphatic filariasis (see these terms).
