Maternal uniparental disomy of chromosome 14 (upd(14)mat) is responsible for a Prader-Willi-like syndrome with precocious puberty. Although upd(14) is often hypothesized to result from trisomy rescue mechanism, T14 cell lines are usually not found with postnatal cytogenetic investigations. We report the coexistence of both chromosomal abnormalities in a 15-year-old girl.

There is a high incidence of spinal deformity in children with the Prader-Willi syndrome. We have encountered major complications following spinal surgery in this condition. We report our experience and conclude that spinal surgery is a formidable undertaking and the risks should be appreciated by the surgeon and the parents.

Prader-Willi Syndrome (PWS) is a rare genetic disorder characterized by physical, psychological and physiological abnormalities. Obesity and related cardiovascular diseases are a common problem in adult patients with PWS. This report describes a case of adult PWS with heart failure associated with marked obesity and sleep-disordered breathing that was successfully treated with oxygen therapy, a...

With the advancement of medical care, the survival of most patients with syndromal genetic disease is greatly improved. In this case report, we have reported an adult Prader-Willi syndrome patient who is being diagnosed at the age of 33. The clinical features and their associated complications during adulthood have been reviewed.

Prader-Willi syndrome (PWS) is an unusual, rare complex autosomal neurodevelopmental disease resulting from genomic imprinting and uniparental disomy of maternal chromosome 15 with a simultaneous functional loss of the parental part 15q11.2-q13. This article briefly elucidates the phenomenon of genomic imprinting, focuses on the diverse clinical features of PWS and concludes with the management...

by Jagadeesh Gokhale, Benjamin R. Page, and John R. Sturrock Jagadeesh Gokhale is an economic advisor at the Federal Reserve Bank of Cleveland, and Benjamin R. Page and John R. Sturrock are economic analysts at the Congressional Budget Office. The authors thank Robert Kilpatrick and Laurence Kotlikoff for helpful discussions. This article is reprinted, with additions, from Generational Accounts...

Corresponding author: Kwang Rae Cho, M.D., Department of Anesthesiology and Pain Medicine, Busan Paik Hospital, College of Medicine, Inje University, Gaegeum 2-dong, Busanjin-gu, Busan 614-735, Korea. Tel: 82-51-890-6520, Fax: 82-51-898-4216, E-mail: [email protected] This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http:// c...

Juvenility was previously defined as a distinct clinical life history stage, characterized by adrenarche, decelerating growth and accelerating adiposity. This review presents the theory of evolutionary predictive adaptive strategies for premature juvenility in response to (mostly) energy supply, but also to other environmental cues. In the absence of longitudinal adrenal androgen levels, premat...