نتایج جستجو برای: pws

تعداد نتایج: 1049  

Journal: :Human molecular genetics 2014
Estela Cruvinel Tara Budinetz Noelle Germain Stormy Chamberlain Marc Lalande Kristen Martins-Taylor

Prader-Willi syndrome (PWS), a disorder of genomic imprinting, is characterized by neonatal hypotonia, hypogonadism, small hands and feet, hyperphagia and obesity in adulthood. PWS results from the loss of paternal copies of the cluster of SNORD116 C/D box snoRNAs and their host transcript, 116HG, on human chromosome 15q11-q13. We have investigated the mechanism of repression of the maternal SN...

2016
Chong Kun Cheon

The Prader-Willi syndrome (PWS) is a human imprinting disorder resulting from genomic alterations that inactivate imprinted, paternally expressed genes in human chromosome region 15q11-q13. This genetic condition appears to be a contiguous gene syndrome caused by the loss of at least 2 of a number of genes expressed exclusively from the paternal allele, including SNRPN, MKRN3, MAGEL2, NDN and s...

Journal: :European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery 2010
E Georgakarakos C V Ioannou Y Kamarianakis Y Papaharilaou T Kostas E Manousaki A N Katsamouris

OBJECTIVE To study the correlation between peak wall stress (PWS) and abdominal aorta aneurysm (AAA) geometric parameters in the presence of intraluminal thrombus (ILT). DESIGN Computational study using finite element analysis. MATERIAL AAA models were created by three-dimensional (3D) reconstruction of in vivo acquired computed tomography (CT) images from 19 patients. METHODS PWS was eva...

2010
Alan Y Ho Anastasia Dimitropoulos

Prader-Willi syndrome (PWS) is a complex neurodevelopmental disorder caused by an abnormality on the long arm of chromosome 15 (q11-q13) that results in a host of phenotypic characteristics, dominated primarily by hyperphagia and insatiable appetite. Characteristic behavioral disturbances in PWS include excessive interest in food, skin picking, difficulty with a change in routine, temper tantru...

2013
William F. Colmers Rachel Wevrick

Prader-Willi syndrome (PWS) is a rare (~1 in 12,000) genetic disorder that involves at least six genes on chromosome 15q11-q13. Children with PWS not only rapidly gain weight and become severely obese because of reduced voluntary activity and increased food intake, but also exhibit growth hormone deficiency, excessive daytime sleepiness, endocrine dysregulation and infertility. These phenotypes...

1996
Su-Hui Chiang Mary K. Vernon

This paper improves upon previous synthetic workload models and compares the performance of dynamic spatial equipartitioning (EQS) and the semi-static quantum-based FB-PWS processor allocation deened in 23], under synthetic workloads that have not previously been considered. These new workloads include realistic repartitioning overheads and job characteristics that are consistent with system me...

2015
Jennifer L. Miller Theresa V. Strong Janalee Heinemann

Prader-Willi syndrome (PWS) is a neurodevelopmental disorder caused by the absence of paternally expressed, imprinted genes on chromosome 15q11-13. Individuals with PWS characteristically have poor feeding and lack of appetite in infancy, followed by the development of weight gain and then uncontrolled appetite and lack of satiety, sometime after the age of two. The overwhelming drive to eat is...

Journal: :Journal of biomedical optics 2010
Shiyong Zhao Ying Gu Ping Xue Jin Guo Tingmei Shen Tianshi Wang Naiyan Huang Li Zhang Haixia Qiu Xin Yu Xunbin Wei

We develop a fiber optical coherence tomography (OCT) system in the clinical utility of imaging port wine stains (PWS). We use our OCT system on 41 patients with PWS to document the difference between PWS skin and contralateral normal skin. The system, which operates at 4 frames with axial and transverse resolutions of 10 and 9 mum, respectively, in the skin tissue, can clearly distinguish the ...

2013
Jung Nam Kim Ho Jun Song Bora Lim Young Kyu Kwon Byung Joo Kim

Pyungwi-san (PWS), a traditional herbal medicine, has been widely used for the treatment of gastrointestinal (GI) disorders such as inappetance, abdominal distension, borborygmus and diarrhea induced by gastric atony, gastric dilatation and GI catarrh [1, 2]. It is composed of Atractylodis Rhizoma (Atractylodes japonica), Citri Pericarpium (Citrus unshiu), Magnoliae Cortex (Machilus thunbergii)...

Journal: :American journal of medical genetics 2000
J E Ming N Blagowidow J H Knoll L Rollings P Fortina D M McDonald-McGinn N B Spinner E H Zackai

The Prader-Willi syndrome (PWS) critical region on 15q11-q13 is subject to imprinting. PWS becomes apparent when genes on the paternally inherited chromosome are not expressed. Familial PWS is rare. We report on a family in which a male and a female paternal first cousin both have PWS with cytogenetically normal karyotypes. Fluorescence in situ hybridization (FISH) analysis shows a submicroscop...

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