Detection of recurrent 4p16.3 microdeletion with 2p25.3 microduplication by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in a fetus from a family with Wolf–Hirschhorn syndrome

AbstractObjectiveWe present prenatal diagnosis, genetic counseling, and molecular cytogenetic features of familial recurrence of Wolf–Hirschhorn syndrome (WHS).Materials and methodsA 31-year-old woman was referred to a hospital at 24 weeks of gestation because of abnormal ultrasound findings in the fetus. Her first child was a boy who had growth retardation, mental defect, and a distinctive facial appearance. Based on the conventional cytogenetic analysis, the combined use of multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (aCGH) facilitated the prenatal diagnosis and genetic counseling in the fetus.Results of the standard G-banging karyotype analysis of the fetus, the parents, and the boy were normal.ResultsThe MLPA analysis revealed the same 4p microdeletion accompanied by 2p microduplication in the fetus and the boy. The aCGH analysis revealed a 3.57-Mb 4p16.3 microdeletion or arr [hg19] 4p16.3 (71,552–3,636,893) x1 in the fetus and a 3.29-Mb 4p16.3 microdeletion or arr [hg19] 4p16.3 (71,148–3,360,737) x1 in the boy. The 3.57-Mb 4p16.3 microdeletion encompassed 39 OMIM genes. The 3.29-Mb 4p16.3 microdeletion encompassed 36 OMIM genes. They both included LETM1 and WHSC1. The 2p25.3 microduplication was smaller than 666 kb and encompassed only one OMIM gene, ACP1.ConclusionThe combined use of MLPA and aCGH is an effective way to diagnose recurrent WHS. Although WHS is typically caused by a de novo deletion, prenatal diagnosis and genetic counseling are necessary in the next pregnancy in families that have suffered such cases

Spatiotemporal Variations of Reference Crop Evapotranspiration in Northern Xinjiang, China

To set up a reasonable crop irrigation system in the context of global climate change in Northern Xinjiang, China, reference crop evapotranspiration (ET 0 ) was analyzed by means of spatiotemporal variations. The ET 0 values from 1962 to 2010 were calculated by Penman-Monteith formula, based on meteorological data of 22 meteorological observation stations in the study area. The spatiotemporal variations of ET 0 were analyzed by Mann-Kendall test, Morlet wavelet analysis, and ArcGIS spatial analysis. The results showed that regional average ET 0 had a decreasing trend and there was an abrupt change around 1983. The trend of regional average ET 0 had a primary period about 28 years, in which there were five alternating stages (high-low-high-low-high). From the standpoint of spatial scale, ET 0 gradually increased from the northeast and southwest toward the middle; the southeast and west had slightly greater variation, with significant regional differences. From April to October, the ET 0 distribution significantly influenced the distribution characteristic of annual ET 0 . Among them sunshine hours and wind speed were two of principal climate factors affecting ET 0

SPC-P1: a pathogenicity-associated prophage of Salmonella paratyphi C

<p>Abstract</p> <p>Background</p> <p><it>Salmonella paratyphi </it>C is one of the few human-adapted pathogens along with <it>S. typhi, S. paratyphi </it>A and <it>S. paratyphi </it>B that cause typhoid, but it is not clear whether these bacteria cause the disease by the same or different pathogenic mechanisms. Notably, these typhoid agents have distinct sets of large genomic insertions, which may encode different pathogenicity factors. Previously we identified a novel prophage, SPC-P1, in <it>S. paratyphi </it>C RKS4594 and wondered whether it might be involved in pathogenicity of the bacteria.</p> <p>Results</p> <p>We analyzed the sequence of SPC-P1 and found that it is an inducible phage with an overall G+C content of 47.24%, similar to that of most <it>Salmonella </it>phages such as P22 and ST64T but significantly lower than the 52.16% average of the RKS4594 chromosome. Electron microscopy showed short-tailed phage particles very similar to the lambdoid phage CUS-3. To evaluate its roles in pathogenicity, we lysogenized <it>S. paratyphi </it>C strain CN13/87, which did not have this prophage, and infected mice with the lysogenized CN13/87. Compared to the phage-free wild type CN13/87, the lysogenized CN13/87 exhibited significantly increased virulence and caused multi-organ damages in mice at considerably lower infection doses.</p> <p>Conclusions</p> <p>SPC-P1 contributes pathogenicity to <it>S. paratyphi </it>C in animal infection models, so it is possible that this prophage is involved in typhoid pathogenesis in humans. Genetic and functional analyses of SPC-P1 may facilitate the study of pathogenic evolution of the extant typhoid agents, providing particular help in elucidating the pathogenic determinants of the typhoid agents.</p

Ultraquantum magnetoresistance in Kramers Weyl semimetal candidate β\beta-Ag2Se

The topological semimetal $\beta$-Ag2Se features a Kramers Weyl node at the origin in momentum space and a quadruplet of spinless Weyl nodes, which are annihilated by spin-orbit coupling. We show that single crystalline $\beta$-Ag2Se manifests giant Shubnikov-de Haas oscillations in the longitudinal magnetoresistance which stem from a small electron pocket that can be driven beyond the quantum limit by a field less than 9 T. This small electron pocket is a remainder of the spin-orbit annihilatedWeyl nodes and thus encloses a Berry-phase structure. Moreover, we observed a negative longitudinal magnetoresistance when the magnetic field is beyond the quantum limit. Our experimental findings are complemented by thorough theoretical band structure analyses of this Kramers Weyl semimetal candidate, including first-principle calculations and an effective k*p model.Comment: A new version based on arXiv:1502.0232

Inter-rater and Intra-rater Reliability of the Chinese Version of the Action Research Arm Test in People With Stroke

Purpose: To detect the inter-rater and intra-rater reliability of the Chinese version of the Action Research Arm Test (C-ARAT) in patients recovering from a first stroke.Methods: Fifty-five participants (45 men and 10 women) with a mean age of 58.67 ± 12.45 (range: 22–80) years and a mean post-stroke interval of 6.47 ± 12.00 (0.5–80) months were enrolled in this study. To determine the inter-rater reliability, the C-ARAT was administered to each participant by two raters (A and B) with varying levels of experience within 1 day. To determine intra-rater reliability, rater A re-administered the C-ARAT to 33 of the 55 participants on the second day. Intra-class correlation coefficients (ICCs) and Bland–Altman plots were used to analyse the inter-rater and intra-rater reliability.Results: Regarding inter-rater reliability, the total, grasping, gripping, pinching, and gross movement scores received respective ICCs of 0.998, 0.997, 0.995, 0.997, and 0.960 (all p &lt; 0.001), indicating excellent inter-rater reliability in stroke patients. Regarding intra-rater reliability, the corresponding ICCs were 0.987, 0.980, 0.975, 0.944, and 0.954 (all p &lt; 0.001), again indicating excellent intra-rater reliability. The Bland–Altman plots yielded a mean difference of 0.15 with 95% limits of agreement (95%LOA) ranging from −2.16 to 2.46 for the inter-rater measurements and a mean difference of −1.06 with 95%LOA ranging from −6.43 to 4.31 for the intra-rater measurement. The C-ARAT thus appeared to be a stable scoring method.Conclusions: The C-ARAT yielded excellent intra-rater and inter-rater reliability for evaluating the paretic upper extremities of stroke patients. Therefore, our results supported the use of the C-ARAT in this population