Lipodystrophies are a group of disorders characterized by absence or loss of adipose tissue and abnormal fat distribution, commonly accompanied by metabolic dysregulation. Although considered rare disorders, their prevalence in the general population is not well understood. We aimed to evaluate the clinical and genetic prevalence of lipodystrophy disorders in a large clinical care cohort. We interrogated the electronic health record (EHR) information of >1.3 million adults from the Geisinger Health System for lipodystrophy diagnostic codes. We estimate a clinical prevalence of disease of 1 in 20,000 individuals. We performed genetic analyses in individuals with available genomic data to identify variants associated with inherited lipodystrophies and examined their EHR for comorbidities associated with lipodystrophy. We identified 16 individuals carrying the p.R482Q pathogenic variant in LMNA associated with Dunnigan familial partial lipodystrophy. Four had a clinical diagnosis of lipodystrophy, whereas the remaining had no documented clinical diagnosis despite having accompanying metabolic abnormalities. We observed a lipodystrophy-associated variant carrier frequency of 1 in 3,082 individuals in our cohort with substantial burden of metabolic dysregulation. We estimate a genetic prevalence of disease of ~1 in 7,000 in the general population. Partial lipodystrophy is an underdiagnosed condition. and its prevalence, as defined molecularly, is higher than previously reported. Genetically guided stratification of patients with common metabolic disorders, like diabetes and dyslipidemia, is an important step toward precision medicine.

Vani P. Sanon
Oct 1, 2016; 34:181-186
Feature Articles

Mother's Day may be tomorrow, but you can still grab a great deal on Apple hardware with prices starting at just $95. Take advantage of the return of the popular $100 discount on Apple Watch Series 5 styles, plus a new $375 markdown on 16-inch MacBook Pros and flash deals on iPod touch models.

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Title: Small Study Shows Lipodissolve Works
Category: Health News
Created: 4/28/2010 9:24:00 AM
Last Editorial Review: 4/28/2010 9:24:32 AM

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Dewey Library - PS3602.A5842 A57 2018

Apple announced that iOS 9 will be available on September 16 as a free update for iPhone, iPad, and iPod touch users. iOS 9 makes iOS devices more intelligent and proactive with powerful search and improved Siri features, all while protecting users’ privacy. The way you interact with iPad gets even better with iOS 9, thanks to new multitasking features that let users view and interact with two apps at once, side by side. “iOS 9 is packed with intelligence that makes every experience with iPhone and iPad even more powerful — Siri can do more than ever and new proactive assistance helps you get more done before you ask, all while protecting users’ privacy,” said Craig Federighi, Apple’s senior vice president of Software Engineering.