نتایج جستجو برای: pws

تعداد نتایج: 1049  

Journal: :Current opinion in pediatrics 2002
D Fintini E Inzaghi M Colajacomo S Bocchini G Grugni C Brufani M Cappa V Nobili S Cianfarani A Crinò

We tested the hypothesis that patients with Prader-Willi syndrome (PWS) may be at lower risk of developing non-alcoholic fatty liver disease (NAFLD) because of a higher insulin sensitivity. Twenty-one PWS patients and 42 control subjects closely similar for age, gender, pubertal stage and body mass index (CNT), were studied. Metabolic profile and body composition were assessed. NAFLD was establ...

2017
Helen Crabbe Tony Fletcher Rebecca Close Michael J Watts E Louise Ander Pauline L Smedley Neville Q Verlander Martin Gregory Daniel R S Middleton David A Polya Mike Studden Giovanni S Leonardi

Approximately one million people in the UK are served by private water supplies (PWS) where main municipal water supply system connection is not practical or where PWS is the preferred option. Chronic exposure to contaminants in PWS may have adverse effects on health. South West England is an area with elevated arsenic concentrations in groundwater and over 9000 domestic dwellings here are supp...

Journal: :Journal of intellectual disability research : JIDR 2006
E C Hinton A J Holland M S N Gellatly S Soni A M Owen

BACKGROUND Research into the excessive eating behaviour associated with Prader-Willi syndrome (PWS) to date has focused on homeostatic and behavioural investigations. The aim of this study was to examine the role of the reward system in such eating behaviour, in terms of both the pattern of food preferences and the neural substrates of incentive in the amygdala and orbitofrontal cortex (OFC). ...

Journal: :Journal of medical genetics 1998
K A Chotai S J Payne

Approximately 98% of Prader-Willi syndrome (PWS) and 80% of Angelman syndrome (AS) cases have deletions at a common region in chromosome 15q11-13, uniparental disomy for chromosomes 15 (UPD15), or mutations affecting gene expression in this region. The resulting clinical phenotype (PWS or AS) in each class of mutation depends upon the parent of origin. Both disorders are characterised at the mo...

2016
Emily S. Gillett Iris A. Perez

Prader-Willi syndrome (PWS) is an imprinted genetic disorder conferred by loss of paternal gene expression from chromosome 15q11.2-q13. Individuals with PWS have impairments in ventilatory control and are predisposed toward sleep disordered breathing due to a combination of characteristic craniofacial features, obesity, hypotonia, and hypothalamic dysfunction. Children with PWS progress from fa...

2007
Kyung Hoon Paik Dong-Kyu Jin Kyung Han Lee Lee Armstrong Ji Eun Lee Yoo Joung Oh Seonwoo Kim Eun Kyung Kwon Yon Ho Choe

Prader-Willi syndrome (PWS) is a contiguous gene syndrome characterized by uncontrollable eating or hyperphagia. Several studies have confirmed that plasma ghrelin levels are markedly elevated in PWS adults and children. The study of anorexigenic hormones is of interest because of their regulation of appetite by negative signals. To study the pattern and response of the anorexigenic hormones su...

Journal: :Chang Gung medical journal 2010
Chien-Min Chen Chia-Ling Chen Jia-Woei Hou Hung-Chih Hsu Chia-Ying Chung Shih-Wei Chou Chu-Hsu Lin Kai-Hua Chen

BACKGROUND A majority of the children with Prader-Willi syndrome (PWS) have global developmental delay and mental delay. The aim of this study was to investigate the developmental profiles and mental assessments among preschool children with PWS. METHODS Ten children with PWS between the ages of 15 months to 6 years, and 11 children with typical development were enrolled. Developmental profil...

Journal: :Hormone research 2007
Urs Eiholzer Jürgen Grieser Michael Schlumpf Dagmar l'Allemand

BACKGROUND In boys with Prader-Labhart-Willi syndrome (PWS), hypogonadism causes pubertal arrest and reduces pubertal muscle growth. Formerly, it was assumed that therapy with gonadal hormones accentuates behaviour abnormalities in PWS. Our aim was to assess the clinical effects of human chorionic gonadotropin (hCG) therapy on pubertal development, muscle mass and behaviour in adolescents with ...

Journal: :Lasers in surgery and medicine 2010
Philipp Babilas Stephan Schreml Tatiana Eames Ulrich Hohenleutner Rolf-Markus Szeimies Michael Landthaler

BACKGROUND So far, pulsed dye lasers have been regarded as the gold standard in the treatment of port-wine stains (PWS). Recently, intense pulsed light (IPL) has been reported to achieve more pronounced fading in some patients. OBJECTIVES To evaluate the efficacy and the side effects of IPL treatment of PWS in a direct comparison to the short-pulsed dye laser (SPDL) and the long-pulsed dye la...

Journal: :Journal of fluency disorders 2011
Mitchell Trichon John Tetnowski

UNLABELLED Self-help activities for people who stutter (PWS) have been gaining in popularity; however, there is a scarcity of evidence to support their utility in stuttering management. The purpose of this investigation was to understand the lived experience of individuals who attended a self-help conference(s) for PWS from the perspective of a PWS to learn its potential utility in stuttering m...

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