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The Ashkenazi Jewish (AJ) population has an increased risk for a variety of recessive diseases due to historical founder effects and genetic drift. For some, the disease-causing founder mutations have been identified and well-characterized, but for others, further study is necessary. The purpose of this study is to assess the carrier frequencies of 85 pathogenic variants causative of 29 recessive conditions in the AJ population. Up to 3000 AJ individuals were genotyped by Luminex MagPlex®-TAG™ bead array or Agena Bioscience™ MassARRAY assays. We identified seven conditions with carrier frequencies higher than 1 in 100, nine between 1 in 100 and 1 in 200, and four between 1 in 200 and 1 in 500. Variants in nine conditions had a detected carrier rate of less than 1 in 500 or were not identified in approximately 2000 AJ individuals. We assessed the combined AJ carrier frequency for 18 relatively prevalent diseases to be 1 in 6, and the risk of AJ individuals to be a carrier couple for one of these 18 diseases as 1 in 441. We note additional recessive genetic conditions should be considered for AJ carrier screening panels.

We report a systematic investigation on the high-temperature thermoelectric response in a typical filling-control Mott transition system La1-xSrxVO3. In the vicinity of the Mott transition, incoherent charge transport appears with increasing temperature and the thermopower undergoes two essential crossovers, asymptotically approaching the limit values expected from the entropy consideration, as known as Heikes formula. By comparison with the results of the dynamical mean field theory, we show that the thermopower in the Mott critical state mainly measures the entropy per charge carrier that depends on electronic degrees of freedom available at the measurement temperature. Our findings verify that the Heikes formula is indeed applicable to the real correlated electron systems at practical temperatures (T>200K)., 6 pages, 6 figures. Accepted in Physical Review B

In July 2009, a pandemic influenza (H1N1) (pdm H1N1) virus epidemic emerged rapidly in Phitsanulok, Thailand. Adult cases of community-acquired pneumonia (CAP) were prospectively examined for pdm H1N1 virus infections by real-time PCR in a tertiary hospital in Phitsanulok from July to November 2009. Twenty-four cases of pdm H1N1 virus-associated CAP were confirmed, and their clinical features including bacterial infection, severity of disease, course of admission, treatment, and outcome were investigated. The median age of these cases was 39.5 years. Most cases appeared to be primary viral pneumonia, but only one case was positive for a urinary pneumococcal antigen. The median time from the onset of illness to admission was 4 days. All 24 patients received oseltamivir after admission. Twelve (50.0%) were defined as having severe CAP and 9 (37.5%) were diagnosed with acute respiratory distress syndrome (ARDS). During the study period, pdm H1N1 virus infections frequently caused severe CAP among young adults because of the delayed initiation of antiviral therapy. Of the 9 ARDS patients, 3 died of ventilator-associated pneumonia caused by multidrug-resistant Acinetobacter baumannii. Implementation of infection control targeting this pathogen is required in tertiary hospitals in Thailand.

We studied electrophysiological, oxygen metabolic, and histological variables in dogs to establish the reliability and safety of partial brachiocephalic perfusion (PBP) under hypothermic cardiopulmonary bypass (CPB) at 23 degrees-25 degrees C. Sixteen mongrel dogs were divided into two groups. Six (control group) underwent typical hypothermic CPB for 90 min, and 10 (PBP group) underwent PBP under hypothermic CPB for 90 min. During core cooling on the CPB, a progressive reduction in voltage and slowing of frequency of the electroencephalogram (EEG) was observed. At around 23 degrees C nasopharyngeal temperature the tracing became almost flat and remained so throughout the hypothermic CPB or the PBP under hypothermic CPB. Consistent recovery of the EEG was, however, observed during the period of rewarming on the CPB, and the voltage and frequency of the EEG recovered to control levels on weaning off CPB at 36 degrees C in both groups. In the PBP group, the cerebral arteriovenous oxygen (AVO2) difference was 12.4 +/- 4.0 vol% before beginning the CPB, and it was 5.6 +/- 2.7, 5.7 +/- 3.1, 5.4 +/- 3.3, and 4.9 +/- 2.9 vol% at 10, 30, 60, and 90 min respectively after commencement of the PBP under hypothermic CPB. The cerebral AVO2 difference measured 10 min after commencement of the PBP was significantly less than that in the control group (P less than 0.05), but otherwise there were no significant differences between cerebral AVO2 differences in the two groups. Concentration of serum creatine kinase-BB (CK-BB) gradually increased in proportion to the duration of CPB in both groups.(ABSTRACT TRUNCATED AT 250 WORDS)