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.

Comparison of vehicle exhaust emissions from modified diesel fuels.

Three diesel fuels, one oil sand-derived (OSD) diesel serving as base fuel, one cetane-enhanced base fuel, and one oxygenate [diethylene glycol dimethyl ether (DEDM)]-blended base fuel, were tested for their emission characterizations in vehicle exhaust on a light-duty diesel truck that reflects the engine technology of the 1994 North American standard. Both the cetane-enhanced and the oxygenate-blended fuels were able to reduce regulated [CO, particulate matter (PM), total hydrocarbon (THC)] and nonregulated [polyaromatic hydrocarbons (PAHs), carbonyls, and other volatile organic chemicals] emissions, except for nitrogen oxides (NO(x)), compared with the base fuel. Although burning a fuel that contains oxygen could conceivably yield more oxygenated compounds in emissions, the oxygenate-blended diesel fuel resulted in reduced emissions of formaldehyde along with hydrocarbons such as benzene, 1,3-butadiene, and PAHs.

Binding of free bile acids by cells of yogurt starter culture bacteria.

Several strains of Lactobacillus delbrueckii ssp. bulgaricus and Streptococcus thermophilus, which produced exocellular polysaccharides (EPS), varied in the amount produced. The streptococci tended to produce the most EPS per milliliter of culture; however, when compared on the basis of amounts per 10(7) cfu, the lactobacilli produced the most.

Analysis of the G93E mutant allele of KpsM, the membrane component of an ABC transporter involved in polysialic acid translocation in Escherichia coli K1.

KpsM is an integral membrane protein involved in the translocation of the polysialic acid capsule of Escherichia coli K1. The kpsMG93E allele is a point mutation in the first cytoplasmic loop (Cl) of KpsM which partially disrupts translocation of the capsule. While producing polymer of wild-type length, strains harboring the G93E allele exhibit a decreased production of capsular polymer and a reduced rate of polymer translocation to the cell surface.

Topological and mutational analysis of KpsM, the hydrophobic component of the ABC-transporter involved in the export of polysialic acid in Escherichia coli K1.

The 17 kb kps gene cluster of Escherichia coli K1, which encodes the information required for synthesis, assembly and translocation of the polysialic acid capsule of E. coli K1, is divided into three functional regions. Region 3 contains two genes, kpsM and kpsT, essential for the transport of capsule polymer across the cytoplasmic membrane.

[Immediate effects of dimenhydrinate on uterine contraction and the fetal cardiac rhythm during labor].

The effects of intravenous administration of 100 mg of dimenhydrinate (Gravol) were studied in 20 patients during active spontaneous labour. The uterine activity and the fetal heart rate were monitored by an invasive technique. After administration of the medication the uterine activity increases significantly, and in 20% of the cases decelerations in the fetal heart rate of the hypoxic type occurred.