GPR98 mutations cause Usher syndrome type 2 in males.

Mutations in the large GPR98 gene underlie Usher syndrome type 2C (USH2C), and all patients described to date have been female. It was speculated that GPR98 mutations cause a more severe, and eventually lethal, phenotype in males. We describe for the first time two male patients with USH2 with novel GPR98 mutations.

An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.

Congenital hearing loss affects approximately one child in 1000. About 10% of the deaf population have Usher syndrome (USH). In USH, hearing loss is complicated by retinal degeneration with onset in the first (USH1) or second (USH2) decade.

Transpedicular lumbar wedge resection osteotomy for fixed sagittal imbalance: surgical technique and early results.

Study Design: A retrospective consecutive case series, radiographic analysis, outcomes analysis, and report on complications.

Objectives: To evaluate the radiographic and functional outcomes of a reconstructive realignment procedure for fixed sagittal imbalance and discuss the complications.

Summary Of Background Data: We describe a modification of an existing technique permitting greater single-level correction for which no reports exist in the peer-reviewed literature.

Measurement of fine particles in diesel emissions using a real-time aerosol monitor.

A real-time monitoring methodology to determine diesel fine particles in diesel emissions has been evaluated. The range of particle size captured by the monitor was approximately 0.1 microm to 1 microm.

Not all spondylolisthesis grading instruments are reliable.

Spondylolisthesis is the slippage of one vertebral body on an adjacent level, and occurs commonly at the lumbosacral junction in children. Many radiographic measurement instruments have been described to predict progression and need for intervention. We evaluated the reliability of eight common grading instruments.