[1,3-Bis(2-ethoxy­phen­yl)triazenido]chloridomercury(II)

In the title compound, [Hg(C16H18N3O2)Cl], the HgII atom is four-coordinated in a tetra­hedral geometry by two N atoms from the 1,3-chelating and one O atom of a 1,3-bis­(2-ethoxy­phen­yl)triazenido ligand and one terminal chloride ion. The dihedral angle between the aromatic rings is 1.72 (14)°. In the crystal C—H⋯π stacking inter­actions occur

1,3-Bis(2-ethoxy­phen­yl)triazene

The title compound, C16H19N3O2, exhibits a trans geometry about the N=N double bond in the triazene unit in the solid state, and individual mol­ecules are close to planar with r.m.s. deviations from planarity of 0.065 Å and 0.242 Å for the two independent molecules in the asymmetric unit. Distinct inter­molecular N—H⋯N hydrogen bonds lead to the formation of dimers with an R 2 2(8) graph-set motif. The steric demands of the eth­oxy groups in the ortho position prevent a coplanar arrangement of the two mol­ecules in the dimers and these instead consist of two inter­locked mol­ecules that are related by a non-crystallographic pseudo-twofold rotation axis. Weak C—H⋯π inter­actions between the CH groups and the aromatic phenyl rings also occur

Evaluation of the Performance of AmpliSeq and SureSelect Exome Sequencing Libraries for Ion Proton

Library preparation for whole-exome sequencing is a critical step serving the enrichment of the regions of interest. For Ion Proton, there are only two exome library preparation methods available, AmpliSeq and SureSelect. Although of major interest, a comparison of the two methods is hitherto missing in the literature. Here, we systematically evaluate the performance of AmpliSeq and SureSelect and present an improved variant calling pipeline. We used 12 in-house DNA samples with genome-wide and exome microarray data and a commercially available reference DNA (NA12878) for evaluation. Both methods had a high concordance (>97%) with microarray genotypes and, when validating against NA12878, a sensitivity and positive predictive values of >93% and >80%, respectively. Application of our variant calling pipeline decreased the number of false positive variants dramatically by 90% and resulted in positive predictive value of 97%. This improvement is highly relevant in research as well as clinical setting

Isolation and Identification of Free Living Amoeba from Patients and Contact Lens Users in Iran

Background: Free-living amoebae (FLA) such as Acanthamoeba spp., are considered as opportunistic and pathogenic protozoans. Acanthamoeba granulomatous encephalitis (AGE) is a serious threat for immunodeficient patients and Acanthamoeba keratitis (AK) for contact lens users. We aimed to identify the presence of free living amoebae in nasal swabs of patients and contact lens users in Qazvin, Iran. Methods: During 2019, 251 nasal and oral swabs (including the pharynx and mouth) were collected from patients with diabetes, AIDS and those under periodic dialysis in Qazvin, Iran. In addition, 27 soft contact lenses were collected from the participants. Following DNA extraction, PCR and sequencing were conducted to identify the genotypes of the amoeba. Phylogenetic analysis of the identified sequences was performed using MEGA 7 software. Results: A strain of Acanthamoeba belonging to the T3 genotype was isolated from hemodialysis patients. Two specimens of Acanthamoeba with T3 genotype were isolated from keratitis patients. Conclusion: The clinicians should pay attention to the possible complication of this organism because this amoeba is potentially pathogenic for immunocompromised patients. Since the amoeba is present in environmental resources, the use of contact lenses should be accompanied by considering proper hygien

Genomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease

Perivascular space (PVS) burden is an emerging, poorly understood, magnetic resonance imaging marker of cerebral small vessel disease, a leading cause of stroke and dementia. Genome-wide association studies in up to 40,095 participants (18 population-based cohorts, 66.3 ± 8.6 yr, 96.9% European ancestry) revealed 24 genome-wide significant PVS risk loci, mainly in the white matter. These were associated with white matter PVS already in young adults (N = 1,748; 22.1 ± 2.3 yr) and were enriched in early-onset leukodystrophy genes and genes expressed in fetal brain endothelial cells, suggesting early-life mechanisms. In total, 53% of white matter PVS risk loci showed nominally significant associations (27% after multiple-testing correction) in a Japanese population-based cohort (N = 2,862; 68.3 ± 5.3 yr). Mendelian randomization supported causal associations of high blood pressure with basal ganglia and hippocampal PVS, and of basal ganglia PVS and hippocampal PVS with stroke, accounting for blood pressure. Our findings provide insight into the biology of PVS and cerebral small vessel disease, pointing to pathways involving extracellular matrix, membrane transport and developmental processes, and the potential for genetically informed prioritization of drug targets.Etude de cohorte sur la santé des étudiantsStopping cognitive decline and dementia by fighting covert cerebral small vessel diseaseStudy on Environmental and GenomeWide predictors of early structural brain Alterations in Young student

Exome chip analysis identifies low-frequency and rare variants in MRPL38 for white matter hyperintensities on brain MRI

International audienc

Genome-wide association study of 23,500 individuals identifies 7 loci associated with brain ventricular volume

The volume of the lateral ventricles (LV) increases with age and their abnormal enlargement is a key feature of several neurological and psychiatric diseases. Although lateral ventricular volume is heritable, a comprehensive investigation of its genetic determinants is lacking. In this meta-analysis of genome-wide association studies of 23,533 healthy middle-aged to elderly individuals from 26 population-based cohorts, we identify 7 genetic loci associated with LV volume. These loci map to chromosomes 3q28, 7p22.3, 10p12.31, 11q23.1, 12q23.3, 16q24.2, and 22q13.1 and implicate pathways related to tau pathology, S1P signaling, and cytoskeleton organization. We also report a significant genetic overlap between the thalamus and LV volumes (ρgenetic = -0.59, p-value = 3.14 × 10-6), suggesting that these brain structures may share a common biology. These genetic associations of LV volume provide insights into brain morphology