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cutis laxa/kutapika

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NakalaMajaribio ya klinikiHati miliki
6 matokeo

ALDH18A1-related cutis laxa syndrome with cyclic vomiting.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
Cutis laxa (CL) syndromes are connective tissue disorders characterized by redundant, sagging, inelastic and wrinkled skin, with organ involvement. Here, we describe a patient with ALDH18A1-related CL who developed cyclic vomiting. The patient was a 12-year-old boy who presented with poor postnatal

Osmotic demyelination syndrome in a patient with Noonan syndrome and anterior hypopituitarism

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
Summary: Severe hyponatremia and osmotic demyelination syndrome (ODS) are opposite ends of a spectrum of emergency disorders related to sodium concentrations. Management of severe hyponatremia is challenging because of the difficulty in

NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
We report two unrelated patients with a multisystem disease involving liver, eye, immune system, connective tissue, and bone, caused by biallelic mutations in the neuroblastoma amplified sequence (NBAS) gene. Both presented as infants with recurrent episodes triggered by fever with vomiting,

Improving community coverage of oral cholera mass vaccination campaigns: lessons learned in Zanzibar.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
BACKGROUND Recent research in two cholera-endemic communities of Zanzibar has shown that a majority (∼94%) of the adult population was willing to receive free oral cholera vaccines (OCVs). Since OCV uptake in the 2009 campaign reached only ∼50% in these communities, an evaluation of social and

Bariatric surgery: a primer.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
OBJECTIVE To review the management of bariatric surgical patients. METHODS MEDLINE, EMBASE, and Cochrane Library databases were searched, as well as PubMed US National Library, from January 1950 to December 2009. Evidence was levels I, II, and III. RESULTS Bariatric surgery should be considered for

Apoptosis induction is involved in UVA-induced autolysis in sea cucumber Stichopus japonicus.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala
Ingia / Ingia
Autolysis easily happens to sea cucumber (Stichopus japonicus, S. japonicus) for external stimulus like UV exposure causing heavy economic losses. Therefore, it is meaningful to reveal the mechanism of S. japonicas autolysis. In the present study, to examine the involvement of apoptosis induction in
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