AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data.

Homozygosity mapping is a powerful method for identifying mutations in patients with recessive conditions, especially in consanguineous families or isolated populations. Historically, it has been used in conjunction with genotypes from highly polymorphic markers, such as DNA microsatellites or common SNPs. Traditional software performs rather poorly with data from Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS), which are now extensively used in medical genetics. We develop AutoMap, a tool that is both web-based or downloadable, to allow performing homozygosity mapping directly on VCF (Variant Call Format) calls from WES or WGS projects. Following a training step on WES data from 26 consanguineous families and a validation procedure on a matched cohort, our method shows higher overall performances when compared with eight existing tools. Most importantly, when tested on real cases with negative molecular diagnosis from an internal set, AutoMap detects three gene-disease and multiple variant-disease associations that were previously unrecognized, projecting clear benefits for both molecular diagnosis and research activities in medical genetics

The effect of buoyancy driven convection on the growth and dissolution of bubbles on electrodes

Enhancing the efficiency of water electrolysis, which can be severely impacted by the nucleation and growth of bubbles, is key in the energy transition. In this combined experimental and numerical study, in-situ bubble evolution and dissolution processes are imaged and compared to numerical simulations employing the immersed boundary method. We find that it is crucial to include solutal driven natural convection in order to represent the experimentally observed bubble behaviour even though such effects have commonly been neglected in modelling efforts so far. We reveal how the convective patterns depend on current densities and bubble spacings, leading to distinctively different bubble growth and shrinkage dynamics. Bubbles are seen to promote the convective instability if their spacing is large (≥ 4 mm for the present conditions), whereas the onset of convection is delayed if the inter-bubble distance is smaller. Our approach and our results can help devise efficient mass transfer solutions for gas evolving electrodes

CTA analysis and assessment of morphological factors related to rupture in 413 posterior communicating artery aneurysms

Posterior communicating artery (PcomA) aneurysms are frequently encountered, but there are few publications on their morphology. A growing number of aneurysms are incidental findings, which makes evaluation of rupture risk important. Our goal was to identify morphological features and anatomical variants associated with PComA aneurysms and to assess parameters related to rupture. We studied CT angiographies of 391 consecutive patients treated between 2000 and 2014 at a single institution. We determined clinically important morphological parameters and performed univariate and multivariate analysis. There were a total of 413 PComA aneurysms: 258 (62%) were ruptured and 155 (38%) unruptured. Ruptured PComA aneurysms had the potential to cause severe bleeding with IVH and/or temporal ICH (n = 170, 66% of ruptured). The main types of PComA origin were classified as follows: (1) separate (32%), (2) side by side (21%) and (3) a joint neck with the aneurysm (6%). After the multivariate logistic regression, the morphological parameters related to PComA aneurysm rupture were an irregular aneurysm dome, neck diameter, and aspect ratio > 1.5. The most marked morphological features of the PComA aneurysms were: saccular nature (99%), infero-posterior dome orientation (42%), infrequency of large or giant aneurysms (4%), narrow neck compared to the aneurysm size, PComA originating directly from the aneurysm neck or the dome (28%), and fetal or dominant PComA on the side of the aneurysm (35%). There were location-related parameters that were more strongly associated with PComA aneurysm rupture than aneurysm size: an irregular aneurysm dome, larger diameter of the aneurysm neck and aspect ratio > 1.5.Peer reviewe

Prevalence of reflux nephropathy in Iranian children with solitary kidney: results of a multi-center study

Background: Given the importance of the function of the remnant kidney in children with unilateral renal agenesis and the significance of timely diagnosis and treatment of reflux nephropathy to prevent further damage to the remaining kidney, we aimed to determine the prevalence of reflux nephropathy in this subgroup of pediatric patients. Methods: In general, 274 children referred to pediatric nephrologists in different parts of Iran were evaluated, of whom 199 had solitary kidney and were included in this cross-sectional study. The reasons for referral included urinary tract infection (UTI), abnormal renal ultrasonography, being symptomatic, and incidental screening. Demographic characteristics, including age and gender were recorded. History of UTI and presence of vesicoureteral reflux (VUR) were evaluated. Results: Of the 274 children evaluated in this study with the mean age (SD) of 4.71 (4.24) years, 199 (72.6) had solitary kidney. Among these, 118 (59.3) were male and 81 (60.7) were female, 21.1 had a history of UTI, and VUR was present in 23.1. The most common cause of referral was abnormal renal ultrasonography (40.2), followed by incidental screening (21.1), being symptomatic (14.1), and UTI (5.5). In 116 children (58.3), the right kidneys and in 83 (41.7) the left kidneys were absent. Besides, 14.6 of the participants had consanguineous parents and 3 had a family history of solitary kidney. Upon DMSA scan, the single kidney was scarred in 13.1, of which only 7.5 were associated with VUR. In addition, proteinuria and hematuria were observed in 6.5 and 1.5 of children, respectively. Conclusions: The prevalence of reflux nephropathy was 7.5 in children with solitary kidney with a male predominance. Given the relatively high prevalence of reflux nephropathy in these children, screening for VUR in the remnant kidney appears to be essential in this population. © 2022, The Author(s)