Oglethiesen6591

The genes MECP2, CDKL5, FOXG1, UBE3A, SLC9A6, and TCF4 present unique challenges for current ACMG/AMP variant interpretation guidelines. To address those challenges, the Rett and Angelman-like Disorders Variant Curation Expert Panel (Rett/AS VCEP) drafted gene-specific modifications. A pilot study was conducted to test the clarity and accuracy of using the customized variant interpretation criteria. Multiple curators obtained the same interpretation for 78 out of the 87 variants (~90%), indicating appropriate usage of the modified guidelines the majority of times by all the curators. The classification of 13 variants changed using these criteria specifications compared to when the variants were originally curated and as present in ClinVar. Many of these changes were due to internal data shared from laboratory members however some changes were because of changes in strength of criteria. There were no two-step classification changes and only 1 clinically relevant change (Likely pathogenic to VUS). The Rett/AS VCEP hopes that these gene-specific variant curation rules and the assertions provided help clinicians, clinical laboratories, and others interpret variants in these genes but also other fully penetrant, early-onset genes associated with rare disorders.

Electromagnetic interference (EMI) from left ventricular assist devices (LVADs) can cause implantable cardioverter-defibrillator (ICD) oversensing. We sought to assess the frequency of inappropriate shocks/oversensing due to LVAD-related EMI and prospectively compare integrated (IB) versus dedicated bipolar (DB) sensing in patients with LVADs.

Single-center study in LVAD patients with Medtronic or Abbott ICDs between September 2017 and March 2020. selleck kinase inhibitor We excluded patients that were pacemaker dependent. Measurements were obtained of IB and DB sensing and noise to calculate a signal-to-noise ratio (SNR). Device checks were reviewed to assess appropriate and inappropriate sensing events.

Forty patients (age 52 ± 14 years, 75% men, 38% ischemic cardiomyopathy) were included with the median time between LVAD implantation and enrollment of 6.7 months (2.3, 11.4 months). LVAD subtypes included HeartWare (n = 22, 55%), Heartmate II (n = 10, 25%), and Heartmate III (n = 8, 20%). Over a follow-up duration of 21.6 ± 12.9 months after LVAD implantation, 5% of patients (n = 2) had oversensing of EMI from the LVAD (both with HeartWare LVADs and Abbott ICDs) at 4 days and 10.8 months after LVAD implantation. Both patients underwent adjustment of ventricular sensing with resolution of oversensing and no further events over 5 and 15 months of further follow-up. The SNR was similar between IB and DB sensing (50 [29-67] and 57 [41-69], p = 0.89).

ICD oversensing of EMI from LVADs is infrequent and can be managed with reprogramming the sensitivity. There was no significant difference in the R-wave SNR with IB versus DB ICD leads.

ICD oversensing of EMI from LVADs is infrequent and can be managed with reprogramming the sensitivity. There was no significant difference in the R-wave SNR with IB versus DB ICD leads.The present study aimed to determine the prevalence of, and factors associated with excessive and severe daytime sleepiness in healthcare university students. A cross-sectional university-based study was conducted with 1,779 students from a university located in the Brazilian Midwest State of Goiás, Brazil, in 2018. Daytime sleepiness was assessed using the Epworth Sleepiness Scale (ESS) and classified as excessive daytime sleepiness (EDS; cut-off ESS score ≥10) and severe EDS (S-EDS; cut-off ESS score ≥16). Associated factors included sociodemographic, behavioural, academic, nutritional status, and sleep-related and perceived health characteristics. Poisson regression was used for the data analysis. The mean (SD) age of the sample was 22.5 (3.84) years. The prevalence of EDS was 54.4% (95% confidence interval [CI] 51.9-56.1) and S-EDS was 10.0% (95% CI 9.2-11.7). After adjustment, a higher probability of occurrence of EDS was found among women (prevalence ratio [PR] 1.37, 95% CI 1.24-1.53), younger students (PR 1.23, 95% CI 1.07-1.42), those who were studying medicine (PR 1.14, 95% CI 1.02-1.28), with poor sleep quality (PR 1.29, 95% CI 1.17-1.43), and among those who reported constant loss of sleep due to internet use (PR 1.14, 95% CI 1.02-1.27). After adjustment, the highest probability of occurrence of S-EDS was found among women (PR 1.72, 95% CI 1.22-2.43), among those with poor sleep quality (PR 2.17, 95% CI 1.54-3.08), and medical students (PR 1.39, 95% CI 1.01-1.90). In conclusion, there was a high prevalence of daytime sleepiness among healthcare university students, especially among medical students and women.Pathogenic variants of the nuclear receptor subfamily 2 group F member 1 gene (NR2F1) are responsible for Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), an autosomal dominant disorder characterized by optic atrophy associated with developmental delay and intellectual disability, but with a clinical presentation which appears to be multifaceted. We created the first public locus-specific database dedicated to NR2F1. All variants and clinical cases reported in the literature, as well as new unpublished cases, were integrated into the database using standard nomenclature to describe both molecular and phenotypic anomalies. We subsequently pursued a comprehensive approach based on computed representation and analysis suggesting a refinement of the BBSOAS clinical description with respect to neurological features and the inclusion of additional signs of hypotonia and feeding difficulties. This database is fully accessible for both clinician and molecular biologists and should prove useful in further refining the clinical synopsis of NR2F1 as new data is recorded.The genetic basis of bird migration has been the focus of several studies. Two willow warbler subspecies (Phylloscopus trochilus trochilus and Phylloscopus trochilus acredula) follow different migratory routes to wintering grounds in Africa. Their breeding populations overlap in contact areas or "migratory divides" located in central Scandinavia and in eastern Poland. Earlier analyses demonstrated that the genetic differences between these two migratory phenotypes are few and cluster on chromosomes 1 and 5. In addition, an amplified fragment length polymorphism-derived biallelic marker (known as WW2) presents steep clines across both migratory divides but failed to be mapped in the genome. Here, we characterize the WW2 marker and describe its two variants (WW2 ancestral and WW2 derived) as portions of long terminal repeat retrotransposons originating from an ancient infection by an endogenous retrovirus. We used quantitative polymerase chain reaction techniques to quantify copy numbers of the WW2 derived variant in the two subspecies and their hybrids. This, together with genome analyses revealed that WW2 derived variants are much more abundant in P. t. acredula and appear embedded in a large repeat-rich region (>12 Mbp), not associated with the divergent regions of chromosomes 1 or 5. However, it might interact with genetic elements controlling migration direction. Testing this hypothesis further will require knowing the exact location of this region, such as by obtaining more complete genome assemblies preferably in combination with techniques like fluorescence in situ hybridization applied to a willow warbler karyotype, and finally to investigate the copy number of this marker in hybrids with known migratory tracks.

Low implantation pregnancy is an important marker for the diagnosis of placenta accreta spectrum in the first trimester. Many grayscale and color Doppler markers have been well defined in the second and third trimesters of pregnancy but not well studied in the first trimester. The aim of this study was to determine if and which placenta accreta spectrum sonographic markers can be used in the first trimester to differentiate patients with low implantation pregnancy who end up developing placenta accreta from those who do not.

This was a retrospective case-control study of pregnancies who delivered at our institution from 2009-2019. Cases represented pregnancies with placenta accreta spectrum who delivered by cesarean hysterectomy and had a first trimester ultrasound with low implantation pregnancy. Controls represented pregnancies with persistent placenta previa without placenta accreta spectrum, who delivered by cesarean section without postpartum hemorrhage and had a first trimester ultrasound with low iion of PAS and in planning for the optimal management of these pregnancies. This article is protected by copyright. All rights reserved.

The structural integrity of hippocampal subfields has been investigated in many neurological disorders and was shown to be better associated with cognitive performance than whole hippocampus. In stroke, hippocampal atrophy is linked to cognitive impairment, but it is unknown whether the hippocampal subfields atrophy differently.

To evaluate longitudinal hippocampal subfield atrophy in first year poststroke, in comparison with atrophy in healthy individuals.

Cohort.

A total of 92 ischemic stroke (age 67 ± 12 years, 63 men) and 39 healthy participants (age 69 ± 7 years, 24 men).

A3 T/T1-MPRAGE, T2-SPACE, and T2-FLAIR.

FreeSurfer (6.0) was used to delineate 12 hippocampal subfields. Whole hippocampal volume was computed as sum of subfield volumes excluding hippocampal fissure volume. Separate assessments were completed for contralesional and ipsilesional hippocampi.

A mixed-effect regression model was used to compare subfield volumes cross-sectionally between healthy and stroke groups and longitudits and healthy controls in ROC curve analysis.

Greater stroke-induced effects were observed in the ipsilesional hippocampus anteriorly in CA1 and posteriorly in the hippocampal tail. Atrophy of CA1 and hippocampal tail may provide a better link to cognitive impairment than whole hippocampal atrophy.

2 TECHNICAL EFFICACY STAGE 3.

2 TECHNICAL EFFICACY STAGE 3.The study aimed to investigate the best-performing of three risk calculators (RCs) for the Turkish population in predicting cancer-free status and high-risk prostate cancer (PCa) in patients undergoing transrectal ultrasound-guided prostate biopsy. The electronic medical records of 527 patients who underwent prostate biopsy for the first time due to PSA of 0.3-50 ng/dl and/or cancer suspicion at digital rectal examination (DRE) between January 2017 and December 2020 were retrieved retrospectively. The predictive power of the RCs in the biopsy and the surgical cohort was calculated by two urologists using European Randomised Study of Screening for Prostate Cancer (ERSPC) RC, the North American Prostate Cancer Prevention Trial-RC (PCPT-RC), and the Prostate Biopsy Collaborative Group (PBCG)-RC. All three RCs were successful in predicting PCa and high-risk disease at ROC analysis (p less then 0.0001). Of these three nomograms, PBCG-RC outperformed PCPT-RC 2.0 and ERSPC-RH in predicting benign pathology outcomes at biopsy. A better performance of PBCG-RC was also observed in terms of prediction of high-risk disease at biopsy. Using any of the available RCs prior to biopsy is of greater assistance to prostate-specific antigen and DRE than examination alone. The study results show that PBCG-RC performed before biopsy has a higher predictive power than the other two RCs.