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.

Decreasing Hospital-acquired Pressure Injuries During the COVID-19 Pandemic: A 5-step Quality Improvement Approach.

Background: Hospital-acquired pressure injuries (HAPIs) are common adverse events with large burdens on patients and health systems. In 2020, during the initial waves of the COVID-19 pandemic, the incidence of admitted patients with HAPIs of stage II and above in our health system rose from 2.92% to 3.

The inequalities and challenges of prehabilitation before cancer surgery: a narrative review.

Introduction: Prehabilitation seeks to enhance functional capacity and preparedness before surgery with the aim of improving outcomes; it is generally based on exercise, diet and psychological interventions. While there is obvious appeal to this approach in terms of patient experience and resource use, the interventions are complex and the evidence base for prehabilitation before cancer surgery is heterogeneous. Prehabilitation requires patient understanding and motivation as well as commitment of resources.

Structure-Activity Relationships and Molecular Pharmacology of Positive Allosteric Modulators of the Mu-Opioid Receptor.

Positive allosteric modulation of the mu-opioid receptor is a promising strategy to address the ever-growing problem of acute and chronic pain management. Positive allosteric modulators (PAMs) of the mu-opioid receptor could be employed to enhance the efficacy of endogenous opioid peptides to a degree that provides pain relief without the need for traditional opioid drugs. Alternatively, PAMs might be used to enhance the action of opioid drugs and so provide an opioid-sparing effect, allowing for the use of lower doses of opioid agonists and potentially decreasing associated side effects.

Human placental cells are resistant to SARS-CoV-2 infection and replication.

Background: Infection during pregnancy with SARS-CoV-2 can have a serious impact on both maternal and foetal health. Clinical studies have shown that SARS-CoV-2 transmission from the mother to the foetus typically does not occur. However, there is evidence that SARS-CoV-2 can infect the placenta .

Menstrual Suppression in Gender-Diverse Youth: What's Most Important to Patients?

Study Objective: To explore reasons for menstrual suppression method choice among transgender and gender-diverse (TGD) youth at the time of method initiation DESIGN, SETTING, AND PARTICIPANTS: A cross-sectional analysis of baseline data from a prospective cohort study of menstruating TGD youth (N = 55), aged 12-17 years, initiating a hormonal method for menstrual suppression in a gender health specialty clinic at a single site, quaternary hospital in the Midwest INTERVENTIONS AND MAIN OUTCOME MEASURES: Participants completed a baseline survey that included identifying the most important reason, as well as other important reasons, for menstrual suppression method selection.

Results: The mean age was 14.9 (SD 1.

Expansion and evaluation of level II and III recovery residences for people taking medications for an opioid use disorder: project HOMES (Housing for MAR Expanded Services) study protocol.

Introduction: As the US continues to battle the opioid epidemic, recovery residences remain valuable services for people in recovery. While there is a growing body of literature describing positive outcomes experienced by people who live in recovery residences, little is known about the experience of people who live in these residences while taking medications for an opioid use disorder (MOUD) as part of their recovery. Thus, this study has three aims: (1) expand the availability of recovery residences that meet the National Alliance for Recovery Residences standards in Texas and serve individuals taking medications for an opioid use disorder as part of their recovery; (2) evaluate recovery residences for people taking MOUD as part of their recovery; and (3) compare the cost-effectiveness of recovery residences to treatment-as-usual.

SARS-CoV-2 anti-N antibodies among healthcare personnel without previous known COVID-19.

Objective: To measure SARS-CoV-2 anti-nucleocapsid (anti-N) antibody seropositivity among healthcare personnel (HCP) without a history of COVID-19 and to identify HCP characteristics associated with seropositivity.

Design: Prospective cohort study from September 22, 2020, to March 3, 2022.

Setting: A tertiary care academic medical center.

Zika viruses encode 5' upstream open reading frames affecting infection of human brain cells.

Zika virus (ZIKV), an emerging mosquito-borne flavivirus, is associated with congenital neurological complications. Here, we investigate potential pathological correlates of virus gene expression in representative ZIKV strains through RNA sequencing and ribosome profiling. In addition to the single long polyprotein found in all flaviviruses, we identify the translation of unrecognised upstream open reading frames (uORFs) in the genomic 5' region.

Ultra-Fast Multi-Organ Proteomics Unveils Tissue-Specific Mechanisms of Drug Efficacy and Toxicity.

Rapid and comprehensive analysis of complex proteomes across large sample sets is vital for unlocking the potential of systems biology. We present UFP-MS, an ultra-fast mass spectrometry (MS) proteomics method that integrates narrow-window data-independent acquisition (nDIA) with short-gradient micro-flow chromatography, enabling profiling of >240 samples per day. This optimized MS approach identifies 6,201 and 7,466 human proteins with 1- and 2-min gradients, respectively.

An analysis of the physicochemical properties of oral drugs from 2000 to 2022.

Calculable physicochemical descriptors are a useful guide to assist compound design in medicinal chemistry. It is well established that controlling size, lipophilicity, hydrogen bonding, flexibility and shape, guided by descriptors that approximate to these properties, can greatly increase the chances of successful drug discovery. Many therapeutic targets and new modalities are incompatible with the optimal ranges of these properties and thus there is much interest in approaches to find oral drug candidates outside of this space.

Disparities in outcomes by race and ethnicity in the Canadian cystic fibrosis population.

Background: Cystic Fibrosis has historically been described as a disease that affects people of European ancestry. Consequently, much of what we know about CF is based on evidence generated from data collected in white individuals. This may lead to systematic bias in how non-white people with CF are diagnosed and treated.

Estimating Ground Reaction Forces from Inertial Sensors.

Objective: Our aim is to determine if data collected with inertial measurement units (IMUs) during steady-state running could be used to estimate ground reaction forces (GRFs) and to derive biomechanical variables (e.g., contact time, impulse, change in velocity) using lightweight machine-learning approaches.

Atypical Hemolytic Uremic Syndrome Following Influenza B: A Case Report.

Background: Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy that presents with a triad of hemolytic anemia, thrombocytopenia, and acute kidney impairment. It can be attributed to mutations in an array of different complement proteins leading to the overactivation of the complement system, the most impacted being the alternative pathway. Though rare, influenza B has been documented as a potential trigger to the development of aHUS.

Transdermal carbon dioxide may accelerate hoof growth in healthy, sound horses in a short-term, randomized, controlled clinical trial.

Objective: Slow hoof growth poses a clinical challenge when hoof wear exceeds natural growth. Many treatment options have been reported without controlled prospective trials. The objective of this study was to evaluate the effect of transdermal CO2 on the rate of growth in treated hooves.

Fast and deep phosphoproteome analysis with the Orbitrap Astral mass spectrometer.

Owing to its roles in cellular signal transduction, protein phosphorylation plays critical roles in myriad cell processes. That said, detecting and quantifying protein phosphorylation has remained a challenge. We describe the use of a novel mass spectrometer (Orbitrap Astral) coupled with data-independent acquisition (DIA) to achieve rapid and deep analysis of human and mouse phosphoproteomes.

Submarine canyon development controlled by slope failure and oceanographic process interactions.

The southeastern Australian margin hosts a series of submarine canyons. Although the origin and evolution of canyons within the northwestern segment of the margin is relatively well studied, their quantitative morphology, interaction with longshore drift currents and slope failure remain poorly understood in the southeastern region. In this study, high-resolution bathymetry and 3D seismic reflection datasets revealed five main submarine canyons present in the central offshore Otway Basin.

A High Dynamic Range Ion Detector for Multireflection Time-of-Flight Analyzers.

Reflectron-based time-of-flight analyzers rely on subnanosecond detector time response to achieve acceptable resolving power for low-mid-mass, multiple-ion peaks. With the adoption of multireflection analyzers, order of magnitude longer folded ion paths relax restrictions on detector response time, allowing implementation of new technologies that greatly improve dynamic range, detector lifetime, and ion detection efficiency. A detection system is presented, integrated into a multireflection analyzer, that combines 10 keV postacceleration and focal plane correction with a unique BxE focusing, optically coupled detector, preamplification, and dual-channel digitization.

An Exploration of Contraceptive Choice Pathways in Adolescents and Young Adults.

Purpose: To visualize contraceptive choice pathways among adolescent and young adults (AYA) designated female at birth (DFAB) as a means of exploring the relationships between current contraceptive use, desired contraceptive, and ultimately, chosen contraceptive method.

Methods: A retrospective cross-sectional study was conducted of AYA DFAB (N = 2369), aged 14-24 years, presenting for initial visit at a contraceptive clinic with standardized efficacy-based counseling. Sankey diagrams were utilized to visualize patient flow through the contraceptive decision-making process.

A model of care for Aboriginal and Torres Strait Islander prisoner health and wellbeing in South Australia.

Purpose: Aboriginal and Torres Strait Islander (Aboriginal) people are overrepresented in Australian prisons, where they experience complex health needs. A model of care was designed to respond to the broad needs of the Aboriginal prisoner population within the nine adult prisons across South Australia. The purpose of this paper is to describe the methods and findings of the Model of Care for Aboriginal and Torres Strait Islander Prisoner Health and Wellbeing for South Australia.

"Nobody does checkups back there": A qualitative study of refugees' healthcare needs in the United States from stakeholders' perspectives.

The number of refugees globally grew to 35.3 million in 2022, and many refugees are exposed to various health risks along their migration journey. As a result, they may arrive in host communities with numerous health issues, including communicable diseases and chronic and mental health conditions.