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.

"I'm quite proud of how we've handled it": health professionals' experiences of returning additional findings from the 100,000 genomes project.

Participants in the 100,000 Genomes Project (100kGP) could consent to receive additional finding (AF) results, individual variants relating to genes associated with susceptibility to cancer and familial hypercholesterolemia (FH). In the study reported here, qualitative interviews were used to explore the experiences of National Health Service (NHS) professionals from across England who were tasked with returning over 80,000 "no AF" results and 700 positive AF results to 100kGP participants. Interviews were conducted with 45 professionals from a range of backgrounds, including Genetic Counsellors, Clinical Geneticists, FH Clinical Nurse Specialists and Clinical Scientists.

EASIX-guided risk stratification for complications and outcome after CAR T-cell therapy with ide-cel in relapsed/refractory multiple myeloma.

Background: Chimeric antigen receptor (CAR) T-cell therapy has demonstrated significant benefits in the treatment of relapsed/refractory multiple myeloma (RRMM). However, these outcomes can be compromised by severe complications, including cytokine release syndrome, immune effector cell-associated neurotoxicity syndrome (ICANS) and immune effector cell-associated hematotoxicity (ICAHT), predisposing for life-threatening infections.

Methods: This retrospective observational study examined a total of 129 patients with RRMM who had received idecabtagene vicleucel (ide-cel) at two major myeloma centers in Germany and one center in the USA to assess the Endothelial Activation and Stress Index (EASIX) as a risk marker for an unfavorable clinical course and outcome after CAR T-cell therapy.

IL-2 delivery to CD8 T cells during infection requires MRTF/SRF-dependent gene expression and cytoskeletal dynamics.

Paracrine IL-2 signalling drives the CD8 + T cell expansion and differentiation that allow protection against viral infections, but the underlying molecular events are incompletely understood. Here we show that the transcription factor SRF, a master regulator of cytoskeletal gene expression, is required for effective IL-2 signalling during L. monocytogenes infection.

Glia control experience-dependent plasticity in an olfactory critical period.

Sensory experience during developmental critical periods has lifelong consequences for circuit function and behavior, but the molecular and cellular mechanisms through which experience causes these changes are not well understood. The Drosophila antennal lobe houses synapses between olfactory sensory neurons (OSNs) and downstream projection neurons (PNs) in stereotyped glomeruli. Many glomeruli exhibit structural plasticity in response to early-life odor exposure, indicating a general sensitivity of the fly olfactory circuitry to early sensory experience.

WITHDRAWN: Mera: A scalable high throughput automated micro-physiological system.

The Publisher regrets that this article is an accidental duplication of an article previously published at http://dx.doi.org/10.

Mera: A scalable high throughput automated micro-physiological system.

There is an urgent need for scalable Microphysiological Systems (MPS's) that can better predict drug efficacy and toxicity at the preclinical screening stage. Here we present Mera, an automated, modular and scalable system for culturing and assaying microtissues with interconnected fluidics, inbuilt environmental control and automated image capture. The system presented has multiple possible fluidics modes.

The burden of selected vaccine-preventable diseases on the secondary care health system in England: Results from a five-year administrative healthcare dataset.

Objectives: This study examined healthcare resource use (HCRU) for selected vaccine-preventable diseases (VPD) in secondary care in England.

Methods: The hospital episode statistics (HES) dataset covering all secondary care interactions within the English National Health Service (NHS) from 2015 to 2021 was used to identify and track HCRU for patients with a primary or secondary diagnosis for pertussis and Haemophilus influenzae type b (Hib), or a primary diagnosis only for hepatitis B, diphtheria, poliomyelitis, or tetanus. The first documented diagnosis during the study period (01/04/2015-31/03/2021) was the index event.

Self-Assessments of Mentoring Skills in Healthcare Professions Applicable to Occupational Therapy: A Scoping Review.

Introduction: This scoping review explores the professional literature in allied healthcare to determine which self-assessments of mentor skills are the most valid and reliable for use in occupational therapy doctoral capstone programs. The aims of this scoping review include mapping evidence related to mentor assessments in healthcare, exploring implications for occupational therapy doctoral mentor training programs, and identifying common characteristics of mentor self-assessments for occupational therapy programs to consider when developing capstone mentoring resources.

Methods: Researchers applied and reported via PRISMA Extension for Scoping Reviews (PRISMA-ScR).

A Rare Case of Granular Cell Tumor in the Right Upper Lung of an Adolescent Patient.

Granular cell tumors (GCTs) are rare neoplasms of neuroectodermal origin characterized by large polygonal cells with abundant eosinophilic and granular cytoplasm. GCTs rarely affect the lungs, with only a few cases reported in the literature. The pathophysiology of this Schwann cell-derived condition is not well understood but is thought to be due to recurring genetic mutations.

A Rare Case of Sarcoidosis Involving Male Breast Tissue.

Sarcoidosis is a multisystem, inflammatory granulomatous disease that rarely involves breast tissue. The pathophysiology of this chronic granulomatous condition is not well understood but is thought to be multifactorial, involving environmental influences causing an amplified immune response. A key histomorphology feature in sarcoidosis is the presence of non-necrotizing granulomas.

Burkitt lymphoma: interpreting FISH testing for gene rearrangements.

Burkitt lymphoma is a highly aggressive B cell non-Hodgkin's lymphoma characterised by translocation of gene on chromosome 8. This translocation is usually detected by fluorescent in-situ hybridisation (FISH) studies as part of routine diagnostic work-up and prognostication. FISH testing is commonly done with the break-apart probe (BAP).

Medication Changes and Diagnosis of New Chronic Illnesses in COVID-19 Intensive Care Unit Survivors.

Background: Currently, there is limited literature on the impact of the COVID-19 infection on medications and medical conditions in COVID-19 intensive care unit (ICU) survivors. Our study is, to our knowledge, the first multicenter study to describe the prevalence of new medical conditions and medication changes at hospital discharge in COVID-19 ICU survivors.

Objective: To determine the number of medical conditions and medications at hospital admission compared to at hospital discharge in COVID-19 ICU survivors.

Analysis of Transcriptomic Response to SO by Oenococcus oeni Growing in Continuous Culture.

To successfully complete malolactic fermentation (MLF), Oenococcus oeni must overcome wine stress conditions of low pH, high ethanol, and the presence of SO. Failure to complete MLF may result in detrimental effects to the quality and stability of the resulting wines. Research efforts to date have focused on elucidating the mechanisms and genetic features that confer the ability to withstand low pH and high ethanol concentrations on O.

Influenza vaccine uptake among at-risk adults (aged 16-64 years) in the UK: a retrospective database analysis.

Background: In the UK, annual influenza vaccination is currently recommended for adults aged 16-64 years who are in a clinical at-risk group. Despite recommendations, rates of vaccine uptake in the UK have historically been low and below national and international targets. This study aims to analyse vaccine uptake among adults in clinical at-risk groups from the 2015-2016 influenza season to the present.

Listening and spoken language outcomes after 5 years of cochlear implant use for children born preterm and at term.

Aim: To compare listening and spoken language outcomes after cochlear implantation for children born preterm and at term, and to examine patterns associated with additional disabilities or gestational age.

Method: Children were included if they underwent cochlear implantation in 2013 or 2014 and had complete 5-year follow-up data available. An analysis of assessment data recorded annually was conducted, including outcomes as measured by the Category of Auditory Performance (CAP), the Speech Intelligibility Rating, Second Edition (SIR 2) scale, and the British Picture Vocabulary Scales, Third Edition (BPVS-3).

Prospective Evaluation of the First Integrated Positron Emission Tomography/Dual-Energy Computed Tomography System in Patients With Lung Cancer.

Purpose: The aim of this pilot study was to prospectively evaluate the first integrated positron emission tomography (PET)/dual-energy computed tomography (DECT) system performance in patients with non-small cell lung cancer (NSCLC).

Materials And Methods: In this single-center, prospective trial, consecutive patients with NSCLC referred for a PET study between May 2017 and June 2018 were enrolled. All patients received contrast-enhanced imaging on a clinical PET/DECT system.

A quantitative comparison of towed-camera and diver-camera transects for monitoring coral reefs.

Novel tools and methods for monitoring marine environments can improve efficiency but must not compromise long-term data records. Quantitative comparisons between new and existing methods are therefore required to assess their compatibility for monitoring. Monitoring of shallow water coral reefs is typically conducted using diver-based collection of benthic images along transects.

Major publications in the critical care pharmacotherapy literature: 2019.

Purpose: To summarize selected meta-analyses and trials related to critical care pharmacotherapy published in 2019.

Materials And Methods: The Critical Care Pharmacotherapy Literature Update (CCPLU) Group screened 36 journals monthly for impactful articles and reviewed 113 articles during 2019 according to Grading of Recommendations, Assessment, Development, and Evaluations (GRADE) criteria.

Results: Articles with a 1A grade, including three clinical practice guidelines, six meta-analyses, and five original research trials are reviewed here from those included in the monthly CCPLU.

Preliminary optimisation of a simplified sample preparation method to permit direct detection of SARS-CoV-2 within saliva samples using reverse-transcription loop-mediated isothermal amplification (RT-LAMP).

We describe the optimisation of a simplified sample preparation method which permits rapid and direct detection of SARS-CoV-2 RNA within saliva, using reverse-transcription loop-mediated isothermal amplification (RT-LAMP). Treatment of saliva samples prior to RT-LAMP by dilution 1:1 in Mucolyse™, followed by dilution in 10 % (w/v) Chelex© 100 Resin and a 98 °C heat step for 2 min enabled detection of SARS-CoV-2 RNA in positive saliva samples. Using RT-LAMP, SARS-CoV-2 RNA was detected in as little as 05:43 min, with no amplification detected in 3097 real-time reverse transcription PCR (rRT-PCR) negative saliva samples from staff tested within a service evaluation study, or for other respiratory pathogens tested (n = 22).