Identification of Copy Number Variants Defining Genomic Differences among Major Human Groups

BACKGROUND:Understanding the genetic contribution to phenotype variation of human groups is necessary to elucidate differences in disease predisposition and response to pharmaceutical treatments in different human populations. METHODOLOGY/PRINCIPAL FINDINGS:We have investigated the genome-wide profile of structural variation on pooled samples from the three populations studied in the HapMap project by comparative genome hybridization (CGH) in different array platforms. We have identified and experimentally validated 33 genomic loci that show significant copy number differences from one population to the other. Interestingly, we found an enrichment of genes related to environment adaptation (immune response, lipid metabolism and extracellular space) within these regions and the study of expression data revealed that more than half of the copy number variants (CNVs) translate into gene-expression differences among populations, suggesting that they could have functional consequences. In addition, the identification of single nucleotide polymorphisms (SNPs) that are in linkage disequilibrium with the copy number alleles allowed us to detect evidences of population differentiation and recent selection at the nucleotide variation level. CONCLUSIONS:Overall, our results provide a comprehensive view of relevant copy number changes that might play a role in phenotypic differences among major human populations, and generate a list of interesting candidates for future studies

A 1-Year Prospective French Nationwide Study of Emergency Hospital Admissions in Children and Adults with Primary Immunodeficiency.

PURPOSE: Patients with primary immunodeficiency (PID) are at risk of serious complications. However, data on the incidence and causes of emergency hospital admissions are scarce. The primary objective of the present study was to describe emergency hospital admissions among patients with PID, with a view to identifying "at-risk" patient profiles. METHODS: We performed a prospective observational 12-month multicenter study in France via the CEREDIH network of regional PID reference centers from November 2010 to October 2011. All patients with PIDs requiring emergency hospital admission were included. RESULTS: A total of 200 admissions concerned 137 patients (73 adults and 64 children, 53% of whom had antibody deficiencies). Thirty admissions were reported for 16 hematopoietic stem cell transplantation recipients. When considering the 170 admissions of non-transplant patients, 149 (85%) were related to acute infections (respiratory tract infections and gastrointestinal tract infections in 72 (36%) and 34 (17%) of cases, respectively). Seventy-seven percent of the admissions occurred during winter or spring (December to May). The in-hospital mortality rate was 8.8% (12 patients); death was related to a severe infection in 11 cases (8%) and Epstein-Barr virus-induced lymphoma in 1 case. Patients with a central venous catheter (n = 19, 13.9%) were significantly more hospitalized for an infection (94.7%) than for a non-infectious reason (5.3%) (p = 0.04). CONCLUSION: Our data showed that the annual incidence of emergency hospital admission among patients with PID is 3.4%. The leading cause of emergency hospital admission was an acute infection, and having a central venous catheter was associated with a significantly greater risk of admission for an infectious episode

A neutron diffraction study of BaCe

High resolution neutron diffraction patterns of BaCexZr1−xO3 (x = 0, 0.1, 0.4, 0.8) were obtained at various temperatures. The phase diagram that was deduced from Raman measurements has been confirmed. Structural transitions occur in a fixed order Pnma-Imma- R$\bar{3}$c-Pm3m as a function of temperature or composition. For BaCeO3, the large volume change that has been previously claimed at the Imma-R$\bar{3}$c transition has been revisited and found inconsistent. For a given composition, the cell volume increases when temperature increases, but the MO6 (M=Ce-Zr) octahedron volume decreases. It is shown that the ratio of the cell volume to the octahedron volume is a good indicator of the phase transitions. Transitions occur at fixed values (5.77, 5.80 and 6 for the Pnma-Imma, Imma-R$\bar{3}$c and R$\bar{3}$c-Pm3m transitions respectively) independently of composition

Current and past strategies for bacterial culture in clinical microbiology

A pure bacterial culture remains essential for the study of its virulence, its antibiotic susceptibility, and its genome sequence in order to facilitate the understanding and treatment of caused diseases. The first culture conditions empirically varied incubation time, nutrients, atmosphere, and temperature; culture was then gradually abandoned in favor of molecular methods. The rebirth of culture in clinical microbiology was prompted by microbiologists specializing in intracellular bacteria. The shell vial procedure allowed the culture of new species of Rickettsia. The design of axenic media for growing fastidious bacteria such as Tropheryma whipplei and Coxiella burnetii and the ability of amoebal coculture to discover new bacteria constituted major advances. Strong efforts associating optimized culture media, detection methods, and a microaerophilic atmosphere allowed a dramatic decrease of the time of Mycobacterium tuberculosis culture. The use of a new versatile medium allowed an extension of the repertoire of archaea. Finally, to optimize the culture of anaerobes in routine bacteriology laboratories, the addition of antioxidants in culture media under an aerobic atmosphere allowed the growth of strictly anaerobic species. Nevertheless, among usual bacterial pathogens, the development of axenic media for the culture of Treponema pallidum or Mycobacterium leprae remains an important challenge that the patience and innovations of cultivators will enable them to overcome

Surface chemistry of nanocrystalline SnO₂: effect of thermal treatment and additives

International audienceThe effect of thermal treatment and additives on surface chemistry and gas sensor properties of nanocrystalline tin oxide is analyzed. SnO2–Fe2O3 and SnO2–MoO3 nanocomposites were prepared by wet chemical synthesis. The composition and nanostructure of the powders have been previously investigated by EDX spectroscopy, XRD, TEM, Raman spectroscopy, BET measurements and Mössbauer spectroscopy. Acidic properties of the samples were characterized by NH3-TPD method. The raising of treatment temperature for undoped SnO2 changes the activation energy spectra of ammonia desorption. The concentration of acid centers on the surface of SnO2 increases with addition of acidic oxide MoO3 and decreases with addition of basic oxide Fe2O3. In the case of NH3 detection the sensor signal value increases with the density of acid centers for both SnO2–Fe2O3 and SnO2–MoO3 series. For ethanol detection the sensor signal mainly depends on the nature (Brønsted or Lewis type) of acid centers