Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD.

Purpose3-Methylcrotonyl-CoA carboxylase deficiency (MCCD) is an autosomal recessive disorder of leucine catabolism that has a highly variable clinical phenotype, ranging from acute metabolic acidosis to nonspecific symptoms such as developmental delay, failure to thrive, hemiparesis, muscular hypotonia, and multiple sclerosis. Implementation of newborn screening for MCCD has resulted in broadening the range of phenotypic expression to include asymptomatic adults. The purpose of this study was to identify factors underlying the varying phenotypes of MCCD.MethodsWe performed exome sequencing on DNA from 33 cases and 108 healthy controls. We examined these data for associations between either MCC mutational status, genetic ancestry, or consanguinity and the absence or presence/specificity of clinical symptoms in MCCD cases.ResultsWe determined that individuals with nonspecific clinical phenotypes are highly inbred compared with cases that are asymptomatic and healthy controls. For 5 of these 10 individuals, we discovered a homozygous damaging mutation in a disease gene that is likely to underlie their nonspecific clinical phenotypes previously attributed to MCCD.ConclusionOur study shows that nonspecific phenotypes attributed to MCCD are associated with consanguinity and are likely not due to mutations in the MCC enzyme but result from rare homozygous mutations in other disease genes.Genet Med 17 8, 660-667

Heat Conduction and Entropy Production in a One-Dimensional Hard-Particle Gas

We present large scale simulations for a one-dimensional chain of hard-point particles with alternating masses. We correct several claims in the recent literature based on much smaller simulations. Both for boundary conditions with two heat baths at different temperatures at both ends and from heat current autocorrelations in equilibrium we find heat conductivities kappa to diverge with the number N of particles. These depended very strongly on the mass ratios, and extrapolation to N -> infty resp. t -> infty is difficult due to very large finite-size and finite-time corrections. Nevertheless, our data seem compatible with a universal power law kappa ~ N^alpha with alpha approx 0.33. This suggests a relation to the Kardar-Parisi-Zhang model. We finally show that the hard-point gas with periodic boundary conditions is not chaotic in the usual sense and discuss why the system, when kept out of equilibrium, leads nevertheless to energy dissipation and entropy production.Comment: 4 pages (incl. 5 figures), RevTe

Combined density-functional and dynamical cluster quantum Monte Carlo calculations for three-band Hubbard models for hole-doped cuprate superconductors

Using a combined local density functional theory (LDA-DFT) and quantum Monte Carlo (QMC) dynamic cluster approximation approach, the parameter dependence of the superconducting transition temperature Tc of several single-layer hole-doped cuprate superconductors with experimentally very different Tcmax is investigated. The parameters of two different three-band Hubbard models are obtained using the LDA and the downfolding Nth-order muffin-tin orbital technique with N=0 and 1 respectively. QMC calculations on 4-site clusters show that the d-wave transition temperature Tc depends sensitively on the parameters. While the N=1 MTO basis set which reproduces all three $pd\sigma$ bands leads to a d-wave transition, the N=0 set which merely reproduces the LDA Fermi surface and velocities does not

The Structure of Barium in the hcp Phase Under High Pressure

Recent experimental results on two hcp phases of barium under high pressure show interesting variation of the lattice parameters. They are here interpreted in terms of electronic structure calculation by using the LMTO method and generalized pseudopotential theory (GPT) with a NFE-TBB approach. In phase II the dramatic drop in c/a is an instability analogous to that in the group II metals but with the transfer of s to d electrons playing a crucial role in Ba. Meanwhile in phase V, the instability decrease a lot due to the core repulsion at very high pressure. PACS numbers: 62.50+p, 61.66Bi, 71.15.Ap, 71.15Hx, 71.15LaComment: 29 pages, 8 figure

Zoledronate treatment has different effects in mouse strains with contrasting baseline bone mechanical phenotypes

Aref, M. W., McNerny, E. M. B., Brown, D., Jepsen, K. J., & Allen, M. R. (2016). Zoledronate treatment has different effects in mouse strains with contrasting baseline bone mechanical phenotypes. Osteoporosis International : A Journal Established as Result of Cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA, 27(12), 3637–3643. https://doi.org/10.1007/s00198-016-3701-

Electromagnetic force density in dissipative isotropic media

We derive an expression for the macroscopic force density that a narrow-band electromagnetic field imposes on a dissipative isotropic medium. The result is obtained by averaging the microscopic form for Lorentz force density. The derived expression allows us to calculate realistic electromagnetic forces in a wide range of materials that are described by complex-valued electric permittivity and magnetic permeability. The three-dimensional energy-momentum tensor in our expression reduces for lossless media to the so-called Helmholtz tensor that has not been contradicted in any experiment so far. The momentum density of the field does not coincide with any well-known expression, but for non-magnetic materials it matches the Abraham expression

The Prevalence of Latent Mycobacterium Tuberculosis Infection Based on an Interferon-γ Release Assay: A Cross-Sectional Survey Among Urban Adults in Mwanza, Tanzania.

One third of the world's population is estimated to be latently infected with Mycobacterium tuberculosis (LTBI). Surveys of LTBI are rarely performed in resource poor TB high endemic countries like Tanzania although low-income countries harbor the largest burden of the worlds LTBI. The primary objective was to estimate the prevalence of LTBI in household contacts of pulmonary TB cases and a group of apparently healthy neighborhood controls in an urban setting of such a country. Secondly we assessed potential impact of LTBI on inflammation by quantitating circulating levels of an acute phase reactant: alpha-1-acid glycoprotein (AGP) in neighborhood controls. The study was nested within the framework of two nutrition studies among TB patients in Mwanza, Tanzania. Household contacts- and neighborhood controls were invited to participate. The study involved a questionnaire, BMI determination and blood samples to measure AGP, HIV testing and a Quantiferon Gold In tube (QFN-IT) test to detect signs of LTBI. 245 household contacts and 192 neighborhood controls had available QFN-IT data. Among household contacts, the proportion of QFT-IT positive was 59% compared to 41% in the neighborhood controls (p = 0.001). In a linear regression model adjusted for sex, age, CD4 and HIV, a QFT-IT positive test was associated with a 10% higher level of alpha-1-acid glycoprotein(AGP) (10(B) 1.10, 95% CI 1.01; 1.20, p = 0.03), compared to individuals with a QFT-IT negative test. LTBI is highly prevalent among apparently healthy urban Tanzanians even without known exposure to TB in the household. LTBI was found to be associated with elevated levels of AGP. The implications of this observation merit further studies