Loss of DOT1L function disrupts neuronal transcription, animal behavior, and leads to a novel neurodevelopmental disorder.

Individuals with monoallelic pathogenic variants in the histone lysine methyltransferase DOT1L display global developmental delay and varying congenital anomalies. However, the impact of monoallelic loss of remains unclear. Here, we present a largely female cohort of 11 individuals with variants with developmental delays and dysmorphic facial features.

The Saint-Leonard Urban Glaciotectonic Cave Harbors Rich and Diverse Planktonic and Sedimentary Microbial Communities.

The terrestrial subsurface harbors unique microbial communities that play important biogeochemical roles and allow for studying a yet unknown fraction of the Earth's biodiversity. The Saint-Leonard cave in Montreal City (Canada) is of glaciotectonic origin. Its speleogenesis traces back to the withdrawal of the Laurentide Ice Sheet 13,000 years ago, during which the moving glacier dislocated the sedimentary rock layers.

Prenatal Ultrasonographic Features Associated With ARSL and X-Linked Chondrodysplasia Punctata 1 (CDPX1): Literature Review and Case Series.

Background: Chondrodysplasia punctata 1 (CDPX1) is an X-linked recessive disorder of cartilage and bone development characterized by stippling on the cartilage and bone, flattened nasal bridge, and brachydactyly, or short fingers. CDPX1 has been associated with variants in the ARSL gene and is known to manifest prenatally, however, there has been no systematic literature review on this evidence.

Aims: Here, we reviewed the current literature on prenatal manifestations of CDPX1, and additionally introduce previously unpublished cases.

Promoting medication safety for older adults upon hospital discharge: Guiding principles for a medication discharge plan.

Older adults are at risk of adverse drug events during transition of care from hospital to community, thus optimal communication about medications at discharge is essential. Standardization of medication discharge plan (MDP) is lacking. This study aimed to (1) create a standardized MDP for older adults using consensus-based principles, (2) create a short-version MDP and (3) generate a practical guide.

Ethical issues in residency education related to the COVID-19 pandemic: a narrative inquiry study.

Background: The COVID-19 pandemic introduced new challenges to provide care and educate junior doctors (resident physicians). We sought to understand the positive and negative experiences of first-year resident physicians and describe potential ethical issues from their stories.

Method: We used narrative inquiry (NI) methodology and applied a semistructured interview guide with questions pertaining to ethical principles and both positive and negative aspects of the pandemic.

Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies.

Congenital myopathies are a genetically heterogeneous group of neuromuscular disorders that commonly present with congenital hypotonia and weakness but can also present broadly. The most severe presentation is neonatal with arthrogryposis and, rarely, fetal akinesia and pterygia, features also seen in lethal multiple pterygium syndrome (LMPS). We describe two fetuses with similar phenotype, including hydrops fetalis, large cystic hygromas, bilateral talipes, and fetal akinesia in the second trimester.

Evaluation of scale-up effect on cold-active enzyme production and biodegradation tests using pilot-scale bioreactors and a 3D soil tank.

Despite recent attention being paid to the biodegradation of petroleum hydrocarbons in cold environments, scale-up studies of biodegradation are lacking. Herein, the effect of scale-up on the enzymatic biodegradation of highly contaminated soil at low temperatures was studied. A novel cold-adapted bacteria (Arthrobacter sp.

Deconvoluting complex correlates of COVID-19 severity with a multi-omic pandemic tracking strategy.

The SARS-CoV-2 pandemic has differentially impacted populations across race and ethnicity. A multi-omic approach represents a powerful tool to examine risk across multi-ancestry genomes. We leverage a pandemic tracking strategy in which we sequence viral and host genomes and transcriptomes from nasopharyngeal swabs of 1049 individuals (736 SARS-CoV-2 positive and 313 SARS-CoV-2 negative) and integrate them with digital phenotypes from electronic health records from a diverse catchment area in Northern California.

Protocol for a living systematic review for the management of concussion in adults.

Introduction: Concussion/mild traumatic brain injury (mTBI) often presents initially with disabling symptoms that resolve, but for an unfortunate minority some of these symptoms may become prolonged. Although research into diagnosis and interventions for concussion is increasing, study quality overall remains low. A living systematic review that is updated as evidence becomes available is the ideal research activity to inform a living guideline targeting clinicians and patients.

ODAS: Open embeddeD Audition System.

Artificial audition aims at providing hearing capabilities to machines, computers and robots. Existing frameworks in robot audition offer interesting sound source localization, tracking and separation performance, although involve a significant amount of computations that limit their use on robots with embedded computing capabilities. This paper presents ODAS, the Open embeddeD Audition System framework, which includes strategies to reduce the computational load and perform robot audition tasks on low-cost embedded computing systems.

De novo variants in the PABP domain of PABPC1 lead to developmental delay.

Purpose: The study aimed to investigate the role of PABPC1 in developmental delay (DD).

Methods: Children were examined by geneticists and pediatricians. Variants were identified using exome sequencing and standard downstream bioinformatics pipelines.

Pilot-scale production and in-situ application of petroleum-degrading enzyme cocktail from Alcanivorax borkumensis.

Petroleum degrading enzymes can be used as an alternative way to improve petroleum bioremediation approaches. Alcanivorax borkumensis is an alkane-degrading bacteria that can produce petroleum degrading enzymes such as alkane hydroxylase and lipase. In this study, pilot-scale Alcanivorax borkumensis fermentation was developed for producing large volumes of petroleum degrading enzymes cocktail (∼900 L).

Feasibility of an Interactive Coaching App to Enhance Post-concussion Outpatient Care.

To determine the feasibility of patients to use a web-based health app for management of post-concussion (mTBI) symptoms in an out-patient setting. Seven (7) patients who were referred to an outpatient specialist clinic (physiatry) with persisting symptoms following a concussion. Participants had to be 18 years of age or older and more than 3 months post injury.

Mainstreaming Genetic Testing for Adult Patients With Autosomal Dominant Polycystic Kidney Disease.

Purpose: Genetic testing results are currently obtained approximately 1 year after referral to a medical genetics team for autosomal dominant polycystic kidney disease (ADPKD). We evaluated a mainstream genetic testing (MGT) pathway whereby the nephrology team provided pre-test counseling and selection of patients with suspected ADPKD for genetic testing prior to direct patient interaction by a medical geneticist.

Sources Of Information: A multidisciplinary team of nephrologists, genetic counselors, and medical geneticists developed an MGT pathway for ADPKD using current testing criteria for adult patient with suspected ADPKD and literature from MGT in oncology.

Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists.

Purpose And Scope: The aim of this position statement is to provide recommendations for Canadian healthcare professionals regarding the use of genome-wide sequencing (GWS) in the context of diagnostic testing of the fetus during pregnancy. This statement was developed to facilitate clinical translation of GWS as a prenatal diagnostic test and the development of best practices in Canada, but the applicability of this document is broader and aims to help professionals in other healthcare systems.

Methods Of Statement Development: A multidisciplinary group was assembled to review existing literature on fetal GWS for genetic diagnosis in the context of suspected monogenic diseases and to make recommendations relevant to the Canadian context.

Column tests for evaluation of the enzymatic biodegradation capacity of hydrocarbons (C-C) contaminated soil.

Though many studies pertaining to soil bioremediation have been performed to study the microbial kinetics in shake flasks, the process efficiency in column tests is seldom. In the present study, soil columns tests were carried out to study the biodegradation of soil contaminated with a high concentration of diesel (≈19.5 g/kg) petroleum hydrocarbons expressed as C-C.

Comparison of a Miniaturized Cassette PCR System with a Commercially Available Platform for Detecting in Beef Carcass Swabs.

Detection sensitivity of cassette PCR was compared with a commercial BAX PCR system for detection of and genes in from 806 beef carcass swabs. Cassette PCR detects multiple genetic markers on multiple samples using PCR and melt curve analysis. Conventional PCR served as a gold standard.

Prevalence, Impact, and Treatment of Co-Occurring Osteoarthritis in Patients With Stroke Undergoing Rehabilitation: A Review.

Background And Purpose: Early, frequent rehabilitation is an important factor for optimizing stroke recovery outcomes. Medical comorbidities, such as osteoarthritis, that affect the ability to participate in rehabilitation could therefore have a detrimental impact on such outcomes. Both stroke and osteoarthritis are becoming more common in developed nations as the population ages.

Clinical presentation, genetic etiology and outcome associated with fetal cardiomyopathy: comparison of two eras.

Objective: To assess the rate and type of genetic diagnosis and clinical outcome of cases of fetal cardiomyopathy (CM) during two eras, in order to examine the impact of advanced genetic testing and improved perinatal management strategies.

Methods: All diagnoses of fetal CM in Alberta, Canada, encountered between 2003 and 2019, were reviewed retrospectively. Genetic, cardiac and non-cardiac diagnoses and clinical outcome were documented.

Incidence and predictors of splanchnic vein thrombosis and mortality following hepatobiliary and pancreatic surgery.

Background: Intraabdominal surgery is a known risk factor for splanchnic vein thrombosis (SVT). SVT incidence, management, and prognosis after hepatopancreatobiliary surgery are unknown.

Objectives: To determine the incidence and prognosis of SVT following hepatopancreatobiliary surgery and describe current practices in anticoagulation for postoperative SVT.