Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.

Intellectual disability (ID) is estimated to affect 1-3% of the general population and is a common reason for referrals to pediatric and adult geneticists, as well as neurologists. There are many genetic and non-genetic causes of ID; X-linked forms are identifiable through their characteristic inheritance pattern. Current testing methods have been able to identify over 100 genes on the X chromosome responsible for X-linked intellectual disability (XLID) syndromes.

Clinical and education workload measurements using personal digital assistant-based software.

Objective: There are no accepted and practical measures of the relative clinical and educational activities of pediatricians who work in an academic health science center. Such measures are necessary for justification of existing and future human resource plans and evaluation of the activities and performance of physicians. The limited literature on the measurement of physician workload usually focuses on a specific subspecialty group and does not account for such issues as indirect patient care, such as telephone calls or e-mail consultations; variables that affect the delivery of clinical care, including patient acuity and complexity; and the presence of students during the patient care activities.

The risk of hepatocellular carcinoma in cirrhotic patients with small liver nodules on MRI.

Background And Aim: The presence of hepatocellular carcinoma (HCC) has important implications for patients with cirrhosis. Studies have not compared the risk of cancer in cirrhotic patients with small liver nodules to cirrhotic patients without nodules. Our aim was to determine the risk of HCC in cirrhotic patients with small liver nodules on MRI compared to those without nodules.