Atypical patterns of segregation of familial enlargement of the vestibular aqueduct.

Objectives/hypothesis: Hearing loss and enlarged vestibular aqueduct (EVA) can be inherited as an autosomal recessive trait caused by mutant alleles of the SLC26A4 gene. In some other families, EVA does not segregate in a typical autosomal recessive pattern. The goal of this study was to characterize the SLC26A4 genotypes and phenotypes of extended families with atypical segregation of EVA.

Effect of fasting on the size of lymphangioleiomyomas in patients with lymphangioleiomyomatosis.

Background: Lymphangioleiomyomas occur in 38% of patients with sporadic lymphangioleiomyomatosis (LAM) and may cause pain and increased abdominal girth, mimicking the presence of a malignancy. Lymphatic involvement in LAM is closely associated with elevated serum levels of vascular endothelium growth factor-D (VEGF-D). Because lymphangioleiomyomas undergo diurnal variation in volume, we hypothesized that daytime ingestion of food, by increasing chyle formation and lymphatic flow, is the cause of an increase in lymphangioleiomyoma volume.

Sexual dimorphisms in the associations of BMI and body fat with indices of pubertal development in girls and boys.

Context: The effect of obesity and concomitant insulin resistance on pubertal development is incompletely elucidated.

Objective: To determine how measures of adiposity and insulin resistance are associated with pubertal maturation in boys and girls.

Setting And Design: Breast and pubic hair Tanner stage and testicular volume by orchidometry were determined by physical examination in 1066 children.

Cabozantinib-induced thyroid dysfunction: a review of two ongoing trials for metastatic bladder cancer and sarcoma.

Background: Thyroid dysfunction is a common adverse event associated with tyrosine kinase inhibitors (TKI), but its underlying pathophysiology is unclear. Cabozantinib is a novel TKI currently Food and Drug Administration approved for advanced medullary thyroid cancer and tested in clinical trials on solid tumors including prostate, liver, bladder, breast, and ovarian cancer.

Methods: We analyzed the thyroid function of patients enrolled in two phase 2 clinical trials using cabozantinib at the National Institutes of Health Clinical Center.

mutation testing for hearing loss associated with enlargement of the vestibular aqueduct.

Pendred syndrome (PS) is characterized by autosomal recessive inheritance of goiter associated with a defect of iodide organification, hearing loss, enlargement of the vestibular aqueduct (EVA), and mutations of the gene. However, not all EVA patients have PS or mutations. Two mutant alleles of are detected in ¼ of North American or European EVA populations, one mutant allele is detected in another ¼ of patient populations, and no mutations are detected in the other ½.