INTRODUCTION Patients with lipodystrophy experience selective or generalized atrophy of adipose tissue. The disruption of lipid metabolism results in an increased risk for development of metabolic syndrome and coronary artery disease. Currently, the mutations responsible for approximately half of lipodystrophy patients are known, but new techniques and examination of different types of genetic ...

objective: hearing loss is the most frequent neurosensory defect in human. mutations in gjb2 and gjb6 are responsible for 50% of autosomal recessive non-syndromic hearing loss (arnshl) cases. here we report on the frequencies of gjb2 and gjb6 mutations and three large deletions spanning the gjb6 gene including del (gjb6-d13s1830), del (gjb6-d13s1854) and a >920 kb deletion in patients affected ...

A 29 days old Pakistani female infant was presented to our outpatient department with two weeks history of a rapidly progressing large size facial hemangioma involving most of the right cheek and right eyelids. The infant was unable to open the right eye. There was also a small hemangioma on the right second toe. Additionally, three similar lesions were found on the right side of the palate and...

BACKGROUND Noncompliance with bisphosphonate therapy among osteoporosis patients attenuates the reduction of fracture risk. The objective of this study was to assess physicians' prescribing considerations, preferences for osteoporosis treatments, and perceptions of patients' compliance with oral bisphosphonates. METHODS This was an online survey of US physicians identified in the HealthCore I...

Given the concept of reliability-based design (RBD) and the growing risk management trend in geotechnical engineering, proper understanding and quantification of uncertainties are very important. The complexity of methods and a large volume of calculations of probabilistic design methods are the most critical reasons for civil engineers not to be comfortable using these approaches. In this rese...