Refinement of the critical region for MCKD1 by detection of transcontinental haplotype sharing

Refinement of the critical region for MCKD1 by detection of transcontinental haplotype sharing.BackgroundAutosomal-dominant medullary cystic kidney disease type 1 (MCKD1) [OMIM 174000] is a hereditary nephropathy that leads to renal salt wasting and end-stage renal failure at a median age of 62 years. In a Welsh MCKD1 kindred we have recently demonstrated linkage to the MCKD1 locus on chromosome 1q23.1 and refined the critical MCKD1 region to <3.3Mb.MethodsIn order to refine the candidate gene region for MCKD1, high-resolution haplotype analysis in three large kindreds with MCKD1 was performed.ResultsWe report here on high-resolution haplotype analysis in this Welsh kindred, as well as in the Arizona kindred, which was used for the first definition of MCKD as a disease entity, and in a kindred from the Dutch/German border. We detected extensive haplotype sharing among all affected individuals of all three kindreds. Scrutinization of the genealogy of the Arizona kindred revealed an origin from Germany in the 17th century, thereby providing historical data for haplotype sharing by descent at the MCKD1 locus.ConclusionUnder the hypothesis of haplotype sharing by descent, we refined the critical genetic interval to <650kb, thus enabling candidate gene analysis

Spin relaxation in (110) and (001) InAs/GaSb superlattices

We report an enhancement of the electron spin relaxation time (T1) in a (110) InAs/GaSb superlattice by more than an order of magnitude (25 times) relative to the corresponding (001) structure. The spin dynamics were measured using polarization sensitive pump probe techniques and a mid-infrared, subpicosecond PPLN OPO. Longer T1 times in (110) superlattices are attributed to the suppression of the native interface asymmetry and bulk inversion asymmetry contributions to the precessional D'yakonov Perel spin relaxation process. Calculations using a nonperturbative 14-band nanostructure model give good agreement with experiment and indicate that possible structural inversion asymmetry contributions to T1 associated with compositional mixing at the superlattice interfaces may limit the observed spin lifetime in (110) superlattices. Our findings have implications for potential spintronics applications using InAs/GaSb heterostructures.Comment: 4 pages, 2 figure

Isotope Effect for the Penetration Depth in Superconductors

We show that various factors can lead to an isotopic dependence of the penetration depth $\delta$. Non-adiabaticity (Jahn-Teller crossing) leads to the isotope effect of the charge carrier concentration $n$ and, consequently, of $\delta$ in doped superconductors such as the cuprates. A general equation relating the isotope coefficients of $T_c$ and of $\delta$ is presented for London superconductors. We further show that the presence of magnetic impurities or a proximity contact also lead to an isotopic dependence of $\delta$; the isotope coefficient turns out to be temperature dependent, $\beta(T)$, in these cases. The existence of the isotope effect for the penetration depth is predicted for conventional as well as for high-temperature superconductors. Various experiments are proposed and/or discussed.Comment: 11 pages, 8 figures, accepted for publication in Phys. Rev.

High neurofilament levels are associated with clinically definite multiple sclerosis in children and adults with clinically isolated syndrome

__Background:__ A promising biomarker for axonal damage early in the disease course of multiple sclerosis (MS) is neurofilament light chain (NfL). It is unknown whether NfL has the same predictive value for MS diagnosis in children as in adults. __Objective:__ To explore the predictive value of NfL levels in cerebrospinal fluid (CSF) for MS diagnosis in paediatric and adult clinically isolated syndrome (CIS) patients. Methods: A total of 88 adult and 65 paediatric patients with a first attack of demyelination were included and followed (mean follow up-time in adults: 62.8 months (standard deviation (SD) ±38.7 months) and 43.8 months (SD ±27.1 months) in children). Thirty control patients were also included. Lumbar puncture was done within 6 months after onset of symptoms. NfL was determined in CSF using enzyme-linked immunosorbent assay (ELISA). COX regression analyses were used to calculate hazard ratios (HR) for clinically definite multiple sclerosis (CDMS) diagnosis. __Results:__ After adjustments for age, oligoclonal bands (OCB), and asymptomatic T2 lesions on baseline magnetic resonance imaging (MRI), increased NfL levels in both paediatric and adult CIS patients were associated with a sh

First cosmology results using type Ia supernovae from the Dark Energy Survey: constraints on cosmological parameters

We present the first cosmological parameter constraints using measurements of type Ia supernovae (SNe Ia) from the Dark Energy Survey Supernova Program (DES-SN). The analysis uses a subsample of 207 spectroscopically confirmed SNe Ia from the first three years of DES-SN, combined with a low-redshift sample of 122 SNe from the literature. Our "DES-SN3YR" result from these 329 SNe Ia is based on a series of companion analyses and improvements covering SN Ia discovery, spectroscopic selection, photometry, calibration, distance bias corrections, and evaluation of systematic uncertainties. For a flat LCDM model we find a matter density Omega_m = 0.331 +_ 0.038. For a flat wCDM model, and combining our SN Ia constraints with those from the cosmic microwave background (CMB), we find a dark energy equation of state w = -0.978 +_ 0.059, and Omega_m = 0.321 +_ 0.018. For a flat w0waCDM model, and combining probes from SN Ia, CMB and baryon acoustic oscillations, we find w0 = -0.885 +_ 0.114 and wa = -0.387 +_ 0.430. These results are in agreement with a cosmological constant and with previous constraints using SNe Ia (Pantheon, JLA)

Search for jet extinction in the inclusive jet-pT spectrum from proton-proton collisions at s=8 TeV

Published by the American Physical Society under the terms of the Creative Commons Attribution 3.0 License. Further distribution of this work must maintain attribution to the author(s) and the published articles title, journal citation, and DOI.The first search at the LHC for the extinction of QCD jet production is presented, using data collected with the CMS detector corresponding to an integrated luminosity of 10.7  fb−1 of proton-proton collisions at a center-of-mass energy of 8 TeV. The extinction model studied in this analysis is motivated by the search for signatures of strong gravity at the TeV scale (terascale gravity) and assumes the existence of string couplings in the strong-coupling limit. In this limit, the string model predicts the suppression of all high-transverse-momentum standard model processes, including jet production, beyond a certain energy scale. To test this prediction, the measured transverse-momentum spectrum is compared to the theoretical prediction of the standard model. No significant deficit of events is found at high transverse momentum. A 95% confidence level lower limit of 3.3 TeV is set on the extinction mass scale