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Recessive splice site and nonsense mutations of PCDH15, encoding protocadherin 15, are known to cause deafness and retinitis pigmentosa in Usher syndrome type 1F (USH1F). Here we report that non-syndromic recessive hearing loss (DFNB23) is caused by missense mutations of PCDH15. This suggests a genotype-phenotype correlation in which hypomorphic alleles(More)
By using homozygosity mapping in a consanguineous Pakistani family, we detected linkage of nonsyndromic hearing loss to a 7.6 Mb region on chromosome 3q13.31-q21.1 within the previously reported DFNB42 locus. Subsequent candidate gene sequencing identified a homozygous nonsense mutation (c.1135G>T [p.Glu379X]) in ILDR1 as the cause of hearing impairment. By(More)
Nonalcoholic steatohepatitis (NASH) associated cirrhosis is an increasing indication for liver transplant (LT). The aim of this study was to determine outcome and poor predictive factors after LT for NASH cirrhosis. We analyzed patients undergoing LT from 1997 to 2008 at a single center. NASH was diagnosed on histopathology. LT recipients with hepatitis C,(More)
BACKGROUND Lung cancer is one of the most prevalent malignancies in the world and both incidence and mortality rates are continuing to rise in Pakistan. However, epidemiological studies to identify common lung cancer determinants in the Pakistani population have been limited. MATERIALS AND METHODS In this retrospective case-control study, 400 cases and(More)
BACKGROUND In 2006, a survey performed by Morrison et al analyzed the experience of aesthetic surgery training from the perspective of residents and their program directors in plastic surgery programs across the United States. OBJECTIVES The authors conducted a survey to follow-up on the Morrison results three years after publication, to assess the(More)
BACKGROUND Clinical experience with surgical decompression of specific peripheral nerves in the head and neck for the relief of migraine headache symptoms has proven to be effective in most patients. Some patients, however, continue to have residual symptoms after these procedures. In an effort to better understand potential etiologies for failure of(More)
Progressive myoclonus epilepsies (PMEs) are a group of rare, inherited disorders manifesting with action myoclonus, tonic-clonic seizures and ataxia. We sequenced the exomes of 84 unrelated individuals with PME of unknown cause and molecularly solved 26 cases (31%). Remarkably, a recurrent de novo mutation, c.959G>A (p.Arg320His), in KCNC1 was identified as(More)
Stuttering is a common and sometimes severe communication disorder, of unknown primary etiology, that exists in populations worldwide. Many types of evidence suggest a genetic contribution to stuttering; however, the complex inheritance of this disorder has hindered identification of these factors. We have employed highly inbred families to increase the(More)
BACKGROUND A major advantage of vertical scar reduction mammaplasty is the improved long-term projection of the breasts. In their experience with more than 1700 cases, the authors have observed the following important trends: Postoperatively, the nipple-areola complex is located higher than one would predict from the preoperative skin markings, and(More)