The human chromosomal 15q11-15q13 region is subject to both maternal and paternal genomic imprinting. Absence of paternal gene expression from this region results in Prader-Willi syndrome (PWS), while absence of maternal gene expression leads to Angelman syndrome. Transcription of paternally expressed genes in the region depends upon an imprinting center termed the PWS-IC. Imprinting defects in...

OBJECTIVE Compare behavioral and emotional problems of children and adolescents with Prader-Willi Syndrome (PWS) and clients consulting mental health centers (MHC) and related behavioral and emotional problems to the children's personality in the PWS group. METHODS Participants were 39 children with PWS and 585 matched MHC clients. Child Behavior Checklist (CBCL) syndromes were related to the...

PURPOSE Although prior research has investigated teachers' beliefs about people who stutter (PWS), this work has not indicated how these beliefs compare with those of the general public or taken into account key demographic variables that may be related to these beliefs. The main purpose of this study was to evaluate whether beliefs about PWS in teachers are different from those in the general ...

Prader-Willi syndrome (PWS), a neurodevelopmental disorder caused by loss of paternal gene expression from 15q11-q13, is characterised by growth retardation, hyperphagia and obesity. However, as single gene mutation mouse models for this condition display an incomplete spectrum of the PWS phenotype, we have characterised the metabolic impairment in a mouse model for 'full' PWS, in which deletio...

Radiological diagnosis of acetabular retroversion is based on the presence of the cross-over sign (COS), the posterior wall sign (PWS), and prominence of the ischial spine (PRISS). The primary purpose of the study was to correlate the quantitative cross-over sign with the presence or absence of the PRISS and PWS signs. The hypothesis was that both, PRISS and PWS are associated with a higher cro...

Port wine stain (PWS) is a congenital, progressive vascular malformation. Many patients with PWS develop hypertrophy and discrete nodularity during their adult life, but the mechanism(s) remain incompletely understood. In this study, we attempted to investigate activation status of PKCα, PI3K, PDPK1 and PLC-γ and protein levels of PP2A and DAG to explore their potential roles in the formation o...

We have designed a photoacoustic probe for port-wine stain (PWS) depth measurements consisting of optical fibers for laser light delivery and a piezoelectric element for acoustic detection. We characterized the capabilities and limitations of the probe for profiling PWS skin. The probe induced and measured photoacoustic waves in acrylamide tissue phantoms and PWS skin in vivo. The optical prope...

Prader-Willi syndrome (PWS) is the most common form of syndromic obesity associated with hyperphagia. Because ghrelin stimulates gastric motility in rodents, and PWS patients have 3- to 4-fold higher fasting plasma ghrelin concentrations than normal subjects, we hypothesized that hyperphagia associated with PWS may be partly explained by rapid gastric emptying due to the increased gastric motil...