Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.

Purpose: We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study.

Methods: Individuals in the Deciphering Developmental Disorders study who had a pathogenic/likely pathogenic genotype in the DECIPHER database were selected for inclusion ( = 5010). Clinical notes from regional clinical genetics services notes were reviewed to assess predefined clinical outcomes relating to interventions, prenatal choices, and information provision.

COVID Lessons Learned: From Response to Recovery.

The COVID-19 pandemic had a profound impact on all school staff. As a consequence of their role as frontline responders, school nurses experienced significant trauma and moral injury. The Washington State School Nurse Corps debriefed the pandemic response to plan for future disasters.

Risk of Atherosclerotic Cardiovascular Disease After Chronic Obstructive Pulmonary Disease Hospitalization among Primary and Secondary Prevention Older Adults.

Background: Meta-analyses have suggested that the risk of cardiovascular disease events is significantly higher after a chronic obstructive pulmonary disease (COPD) exacerbation, but the populations at highest risk have not been well characterized to date.

Methods And Results: The authors analyzed the risk of atherosclerotic cardiovascular disease (ASCVD) hospitalizations after COPD hospitalization compared with before COPD hospitalization and patient factors associated with ASCVD hospitalizations after COPD hospitalization among 2 high-risk patient cohorts. The primary outcome was risk of an ASCVD hospitalization composite outcome (myocardial infarction, coronary artery bypass graft, percutaneous coronary intervention, stroke, transient ischemic accident) after COPD hospitalization relative to before COPD hospitalization.

Complications Following Open Versus Minimally Invasive Resection of Gastric Adenocarcinoma.

Background And Objectives: Gastric adenocarcinoma (GA) is commonly treated with open or minimally invasive surgery (MIS). The preferred surgical approach remains unclear. This study sought to assess utilization over time, compare complication rates by surgical approach, and identify predictors of experiencing complications.

The Biomechanics of Fibrillin Microfibrils: Lessons from the Ciliary Zonule.

Marfan syndrome is an inherited connective tissue disorder that affects the cardiovascular, musculoskeletal, and ocular systems. It is caused by pathogenic variants in the fibrillin-1 gene (). Fibrillin is a primary component of microfibrils, which are found throughout the extracellular matrix (ECM) and provide elasticity and resilience to connective tissue.

Influence of referral type and sociodemographic factors on completion of bariatric surgery.

Background: The impact of referral type and socioeconomic status on completion of the bariatric surgery process is not well understood.

Objectives: This study aims to 1) describe how sociodemographic characteristics influence referral type and 2) identify predictors of completion of surgery.

Setting: Large multihospital health care system, including a large academic medical center.

A feasibility randomized controlled trial of an individually delivered, peer support intervention to reduce the impact of psychosis stigma and discrimination for people with psychosis: the let's talk study.

Background: Stigma of mental health conditions hinders recovery and well-being. The Honest, Open, Proud (HOP) program shows promise in reducing stigma but there is uncertainty about the feasibility of a randomized trial to evaluate a peer-delivered, individual adaptation of HOP for psychosis (Let's Talk).

Methods: A multi-site, Prospective Randomized Open Blinded Evaluation (PROBE) design, feasibility randomised controlled trial (RCT) comparing the peer-delivered intervention (Let's Talk) to treatment as usual (TAU).

Empagliflozin in acute myocardial infarction in patients with and without type 2 diabetes: A pre-specified analysis of the EMPACT-MI trial.

Aims: In the EMPACT-MI trial, empagliflozin reduced heart failure (HF) hospitalizations but not mortality in acute myocardial infarction (MI). Contemporary reports of clinical event rates with and without type 2 diabetes mellitus (T2DM) in acute MI trials are sparse. The treatment effect of empagliflozin in those with and without T2DM in acute MI is unknown.

Effectiveness of cholangioscopy guided biopsy versus ERCP guided brushings in diagnosing malignant biliary strictures.

Background: Evaluation of lesions of the biliary tract are essential to diagnose given the dismal outcomes of cholangiocarcinoma. Historically, these diagnoses were made using brush biopsies obtained under Endoscopic Retrograde Cholangiopancreatography (ERCP). To increase the accuracy of biliary biopsies, SpyGlassTM Discover cholangioscopy guided biopsy has been developed, providing greater tissue yield and direct visualization of the biliary epithelium.

Women's perspectives of molecular breast imaging: a qualitative study.

Background: Mammography has poor sensitivity in dense breast tissue. Retrospective studies suggest that Molecular Breast Imaging (MBI), has superior diagnostic accuracy to mammography in women with very dense breast tissue. Women's perspectives of MBI are unknown, but are crucial to understanding the feasibility of, and routes to, adoption into practice.

Understanding modifiable barriers to human milk donation in the United Kingdom.

Background: When premature infants cannot receive their own mother's milk, donor human milk (DHM) is the first-line recommended option, with growing demand for DHM use outside of neonatal units. To meet the potential need, we need to consider whether DHM supply can increase. This study aimed to explore the reasons that prevent women who wish to donate their milk in the United Kingdom from doing so to understand which barriers may be modifiable.

The gut microbiota of three avian species living in sympatry.

Background: Evolutionary divergence and genetic variation are often linked to differences in microbial community structure and diversity. While environmental factors and diet heavily influence gut microbial communities, host species contributions are harder to quantify. Closely related species living in sympatry provide a unique opportunity to investigate species differences without the confounding effects of habitat and dietary variation.

Efficient Dehydration of 1-Phenylethanol to Styrene by Copper(II) and Zinc(II) Fused-Bisoxazolidine Catalysts.

The air-stable copper(II) catalyst [Cu(FOX-L1)(MeCN)][OTf] () is prepared from a fused meso-dipyridylbisoxazolidine (FOX-L1) and CuBr, followed by treatment with AgOTf. The compound is a catalyst for the dehydration of 1-phenylethanol to styrene (+HO) in over 95% yield at 1 mol % catalyst loading. Other alcohols (benzylic, tertiary, or allylic) are also efficiently dehydrated by this catalyst.

Effect of Sarcobesity Index and Body Adipose Tissue Variables on Cardiopulmonary Exercise Testing Performance in Colorectal Surgery Setting: A Retrospective Cohort Study.

The prognostic significance of body composition variables has become a popular area of research over the recent years. This study aimed to determine whether adipose tissue variables and sarcobesity index measured by computed tomography (CT) could predict cardiopulmonary exercise testing (CPET) performance and long-term mortality in patients undergoing major colorectal surgery. The Strengthening the Reporting of Cohort Studies in Surgery (STROCSS) statement standards were followed to conduct a retrospective cohort study of consecutive patients who had CPET prior to major colorectal surgery between January 2011 and January 2017.

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.

An increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of manifestations and mutational spectrum is lacking. To address this, we performed detailed analysis of 42 individuals with BCL11A-related IDD (BCL11A-IDD, a.k.

Recognition of Hyperinsulinaemic Hypoglycaemia in Infants with Congenital Central Hypoventilation Syndrome.

Introduction: Congenital central hypoventilation syndrome (CCHS) is a rare autosomal dominant condition due to mutations in the transcription factor PHOX2B. It is characterized by alveolar hypoventilation with symptoms of autonomic nervous system dysfunction. Hyperinsulinaemic hypoglycaemia (HH) due to glucose dysregulation caused by anomalous insulin secretion has been reported as a feature of CCHS.

Location and timing of infection drives a sex-bias in prevalence in a hole-nesting bird.

Sex biases in prevalence of disease are often attributed to intrinsic factors, such as physiological differences while a proximate role of extrinsic factors such as behavioural or ecological differences may be more difficult to establish. We combined large-scale screening for the presence and lineage identity of avian malaria (haemosporidian) parasites, in 1234 collared flycatchers () with life-history information from each bird to establish the location and timing of infection. We found an overall infection rate of 36.