Erythrokeratodermia variabilis et progressiva 3
A form of erythrokeratodermia variabilis et progressiva, a genodermatosis characterized by the coexistence of two independent skin lesions: transient erythema and hyperkeratosis that is usually localized but occasionally occurs in its generalized form. Clinical presentation varies significantly within a family and from one family to another. Palmoplantar keratoderma is present in around 50% of cases ...
Erythrokeratodermia variabilis (erythrokeratodermia figurate Variabilis, erythrokeratoderma congenitals progressiva symmetrica,...
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List of variants studied for Deafness, autosomal recessive 1A; Deafness, autosomal dominant 2b; Erythrokeratodermia variabilis...
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Development: zebrafish used in identifying a novel neurocutaneous syndrome | Disease Models & Mechanisms
Erythrokeratodermia variabilis (EKV) is an autosomal dominant disease that causes skin lesions and thickening. In 2005, a novel mutation was identified in a small group of families with an atypical form of EKV. In addition to erythematous lesions and hyper-keratosis, affected individuals from these families have severe psychomotor retardation, peripheral neuropathy, sensorineural hearing loss and severe diarrhea. In a new study, a team of Canadian researchers report that the atypical form of EKV caused by this mutation is in fact a novel neurocu-taneous syndrome, which they have named MEDNIK (mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis and keratodermia). The mutation found in MEDNIK patients creates a premature stop codon in the AP1S1 gene, which encodes a subunit of an adaptor protein complex involved in protein trafficking within cells. The researchers show that knocking down Ap1s1 expression in zebrafish resulted in a phenotype reminiscent of the human ...
Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia | Haematologica
Sphingolipids are fundamental to membrane trafficking, apoptosis and cell differentiation and proliferation. KDSR or 3-keto-dihydrosphingosine reductase is an essential enzyme for de novo sphingolipid synthesis, and pathogenic mutations in KDSR result in the severe skin disorder erythrokeratodermia variabilis et progressiva-4. Four of the eight reported cases also had thrombocytopenia but the underlying mechanism has remained unexplored. Here we expand upon the phenotypic spectrum of KDSR deficiency with studies in two siblings with novel compound heterozygous variants associated with thrombocytopenia, anemia and minimal skin involvement. We report a novel phenotype of progressive juvenile myelofibrosis in the propositus, with spontaneous recovery of anemia and thrombocytopenia in the first decade of life. Examination of bone marrow biopsies showed megakaryocyte hyperproliferation and dysplasia. Megakaryocytes obtained by culture of CD34+ stem cells confirmed hyperproliferation and showed ...
STRIVE Baltimore | The Abell Foundation - Working To Enhance The Quality Of Life In Baltimore And In Maryland.
In the spring of 1997, the Abell Foundation awarded Baltimore City Healthy Start a $250,000 grant to replicate in Baltimore the highly successful East Harlem job placement program called STRIVE. The East Harlem program has been in operation since 1985 and now has affiliate programs in ten other cities, including Baltimore.
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Psithyrus variabilis, abdomen, UGCA195894 image
Discover Lifes page about the biology,
natural history, ecology, identification and distribution of Psithyrus variabilis, abdomen, UGCA195894 image
Medicaid dental clinics targeted, accused of overtreatment - Houston Chronicle
For three months, Courissa Hall essentially lived in a Houston rehabilitation hospital providing care for her 4-year-old daughter, who suffered brain damage during a routine appointment at a local dental clinic that specialized in treating Medicaid patients. The victim of apparent overmedication at the clinic, Nevaeh lies in bed, a feeding tube providing her nutrition, her limbs contracting involuntarily from neurological damage. On April 8, Hall took the big step of seeking criminal charges at the Harris County District Attorneys Office against her daughters dentist, Dr. Bethaniel Jefferson, alleging reckless endangerment of a child. Lawyers, dentists and pediatric patients parentshavealleged the clinics, often propped up by corporate entities, overbill Medicaid and put at great risk the most vulnerable patients - children. In formal complaints, lawsuits and public writings, critics allege the clinics rush children through dental treatment by heavy use of sedative drugs and with straitjacket
I type, You read..: 07/01/2012 - 08/01/2012
sekarang zaman praktikal.. duduk rumah sewa katenye.. baru tahu susah senang kan.. kene bangun sahur..! kalau tak cukup air, kompem kat sekolah tekak kau kering nak mampui.. sebab kat sekolah ni 24jam cakap none stop dengan bebudak.. sighhh. pastu tak larat lah nak beli memanjang.. fulus weh fulus.. duet minyak kereta lagi..sewa rumah lagi.. fotostate macam-macam lagi.. hadiah untuk student lagi.. ohoiiii... jadi nak tak nak aku perlu berlatih memasak.. tapi, ada sorang hauzmate aku yang rajen or senang cerita die suka masak-masak.. lega ceq..! tapi manusia kan, mesti ada penatnya.. so bila dia tak larat nak masak, aku lah yang amek turn masak tu.. soalannya, mampukah aku masak??? ye taw, kat umah pon kekadang aku masak.. ekskiusmi....!!! KADANG-KADANG okey... bila terpaksa dan dipaksa sahaja... wahahhaa..! eceli aku suke buat dessert like puding, cake, kuih dll berbanding masak-masak benda berat. sebab macam kiut je bila pandai buat benda-benda remeh macam dessert tu.. gituu ...
Lampranthus variabilis (Haw.) N. E. Br. - Encyclopedia of Life
Definition: This organism produces this material or substance, either during its life or after death. A produces B if some process that occurs in A has output B ...
Legal History Blog: Yeazell on the Emergence of Civil Litigation as a Political Issue
During the last four decades the United States has witnessed first the emergence and then the disappearance of civil litigation as a topic of partisan debate in national politics. Following two centuries in which neither party thought the topic worth mention, in the last decades of the twentieth and first of the twenty-first century, both parties made it part of their agendas. Republican candidates and presidents denounced litigation as a blight; Democratic candidates and presidents embraced it as a panacea. This Essay traces the emergence of this issue, the apparent oddness of the two parties stances toward civil litigation, and the ways in which both parties chose to ignore salient characteristics of modern civil litigation - the unspoken truths of my title. Finally, Ill tentatively suggest some reasons for the disappearance of this issue - at least temporarily - from the political scene ...
Cataloguing Cullaloe: The accidental dipterist
In additon to the great finds of this and the Conops yesterday I also keyed out Platycheirus scutatus (s.l - it was a female) from the same day. That takes me to 41 species for the year, with another Cheilosia which is of the variabilis group and therefore also new. If not this year, then next year my target will certainly be 50, as well as trying to record more good data on host etc ...
Specialized Centers :: Geneskin
Outpatient clinic for Genodermatoses or rare diseases (for Bullous congenital ichthyosiform erythroderma, Erythrokeratodermia variabilis, Harlequin type ichthyosis congenita, KID syndrome, pachyonychia congenita type 2, Mutilating Vohwinkel palmo-plantar keratoderma with deafness, Mutilating Vohwinkel palmo-plantar keratoderma without deafness, Lamellar ichthyosis/Non-bullous congenital ichthyosiform erythroderma and Sjogren-Larsson syndrome ). Genetic Skin Disease ...
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