Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Purpose: ATM germline pathogenic variants (GPVs) are associated with a moderately increased risk of female breast cancer, pancreatic cancer, and prostate cancer. Resources for managing ATM heterozygotes in clinical practice are limited.

Methods: An international workgroup developed a clinical practice resource to guide management of ATM heterozygotes using peer-reviewed publications and expert opinion.

Public acceptability of proposals to manage new takeaway food outlets near schools: cross-sectional analysis of the 2021 International Food Policy Study.

Global trends indicate that takeaway food is commonly accessible in neighbourhood food environments. Local governments in England can use spatial planning to manage the opening of new takeaway outlets in 'takeaway management zones around schools' (known sometimes as 'exclusion zones'). We analysed data from the 2021 International Food Policy Study to investigate public acceptability of takeaway management zones around schools.

Development of clinical considerations for ankle-foot orthosis prescription and monitoring in young children with cerebral palsy: a Delphi study.

Purpose: To seek agreement on evidence-based, family-centered, clinical considerations for Ankle Foot Orthosis (AFO) prescription and monitoring for young, ambulatory children with cerebral palsy.

Materials And Methods: An online Delphi survey focusing on parent, clinician, and researcher perspectives on specific processes and outcomes concerning AFO prescription and monitoring practices was conducted over two rounds. Participants rated each survey item as critical, important but not critical, or less important.

Embracing Reablement as an Essential Support Approach for Dementia Care in the 21 Century: A Position Paper.

The World Health Organization (WHO) recognizes the right of individuals with dementia and their family caregivers to access interventions that enhance their participation in society. Reablement is an approach that enables older people to participate in meaningful daily and social activities. Over the past decade, a growing body of evidence has underscored reablement as a promising approach within dementia care, including positive outcomes for people with dementia and their family caregivers, and cost-effectiveness.

Protocol for a feasibility and acceptability study for UK general population paediatric type 1 diabetes screening-the EarLy Surveillance for Autoimmune diabetes (ELSA) study.

Aim: The EarLy Surveillance for Autoimmune (ELSA) study aims to explore the feasibility and acceptability of UK paediatric general population screening for type 1 diabetes.

Methods: We aim to screen 20,000 children aged 3-13 years for islet-specific autoantibodies through dried blood spot sample collection at home, hospital or community settings. Children with two or more autoantibodies are offered metabolic staging via oral glucose challenge testing.

Single nucleotide polymorphisms are associated with strain-specific virulence differences among clinical isolates of Cryptococcus neoformans.

Studies across various pathogens highlight the importance of pathogen genetic differences in disease manifestation. In the human fungal pathogen Cryptococcus neoformans, sequence type (ST) associates with patient outcome. We performed a meta-analysis of four genomic studies and identified overlapping gene regions associated with virulence, suggesting the importance of these gene regions in cryptococcal disease in diverse clinical isolates.

The background sodium leak channel NALCN is a major controlling factor in pituitary cell excitability.

The pituitary gland produces and secretes a variety of hormones that are essential to life, such as for the regulation of growth and development, metabolism, reproduction, and the stress response. This is achieved through an intricate signalling interplay between the brain and peripheral feedback signals that shape pituitary cell excitability by regulating the ion channel properties of these cells. In addition, endocrine anterior pituitary cells spontaneously fire action potentials to regulate the intracellular calcium ([Ca]) level, an essential signalling conduit for hormonal secretion.

Retailer Responses to Public Consultations on the Adoption of Takeaway Management Zones Around Schools: A Longitudinal Qualitative Analysis.

Background: Takeaway food is often high in calories and served in portion sizes that exceed public health recommendations for fat, salt and sugar. This food is widely accessible in the neighbourhood food environment. As of 2019, of all local authorities in England (n=325), 41 had adopted urban planning interventions that can allow them to manage the opening of new takeaway outlets in "takeaway management zones around schools" (known elsewhere as "exclusion zones").

Post-operative periprosthetic femoral fractures in England: Patient profiles and short-term outcomes.

Background And Objective: Post-operative periprosthetic femoral fractures (POPFF) present a growing challenge for healthcare services, but there are limited national data on patient profiles, short-term outcomes, and post-discharge follow-up. We aimed to fill these gaps.

Methods: Using Hospital Episode Statistics (HES), we identified POPFF discharges from hospitals in England for patients aged 18 and above between April 2016 and December 2022.

Consensus Statement on Brillouin Light Scattering Microscopy of Biological Materials.

Brillouin Light Scattering (BLS) spectroscopy is a non-invasive, non-contact, label-free optical technique that can provide information on the mechanical properties of a material on the sub-micron scale. Over the last decade it has seen increased applications in the life sciences, driven by the observed significance of mechanical properties in biological processes, the realization of more sensitive BLS spectrometers and its extension to an imaging modality. As with other spectroscopic techniques, BLS measurements not only detect signals characteristic of the investigated sample, but also of the experimental apparatus, and can be significantly affected by measurement conditions.

Associations of Mild Behavioral Impairment Domains with Brain Volumes: Cross-sectional Analysis of Atherosclerosis Risk in Community (ARIC) Study.

Background: Mild behavioral impairment (MBI) has been associated with global brain atrophy, but the regional neural correlates of MBI symptoms are less clear, particularly among community-dwelling older individuals without dementia.

Objective: Our objective was to examine the associations of MBI domains with gray matter (GM) volumes in a large population-based sample of older adults without dementia.

Methods: We performed a cross-sectional study of 1445 community-dwelling older adults in the Atherosclerosis Risk in Communities Study who underwent detailed neurocognitive assessment and brain magnetic resonance imaging in 2011-2013.

Bone Mineral Density, Bone Biomarkers, and Joints in Acute, Post, and Long COVID-19: A Systematic Review.

SARS-CoV-2 is highly transmissible and affects the respiratory system. People with COVID-19 are at higher risk of physical and mental health conditions, which could impact bone health. The aim of this review was to explore the effects of COVID-19 on BMD, BTMs, and joints.

Survival outcomes fifteen years after minimally invasive esophagectomy.

Background And Objectives: Minimally invasive esophagectomy (MIO) offers a less traumatic resection for cancer patients resulting in improved quality of life. Concerns about the oncological efficacy of the procedure and potential impact on survival may have limited its wider adoption. This study reports survival outcomes fifteen years after patients underwent a total MIO for esophageal cancer.

Dry needling for orofacial pain: a systematic review and meta-analysis of randomized clinical trials.

Orofacial pain (OFP) is an ache in the front part of the head and typically has musculoskeletal, dental, neural, or sinogenic origin. Dry needling (DN) is the insertion of a solid sterile fine needle through the skin aimed at deactivating the myofascial trigger points has extensively been studied in randomized clinical trials (RCTs). This systematic review was aimed at evaluating the evidence base for the effectiveness of DN for OFP.

Examining the role of common variants in rare neurodevelopmental conditions.

Although rare neurodevelopmental conditions have a large Mendelian component, common genetic variants also contribute to risk. However, little is known about how this polygenic risk is distributed among patients with these conditions and their parents nor its interplay with rare variants. It is also unclear whether polygenic background affects risk directly through alleles transmitted from parents to children, or whether indirect genetic effects mediated through the family environment also play a role.

Enterovirus A71 and coxsackievirus A6 circulation in England, UK, 2006-2017: A mathematical modelling study using cross-sectional seroprevalence data.

Enterovirus A71 (EV-A71) and coxsackievirus A6 (CVA6) primarily cause hand, foot and mouth disease and have emerged to cause potential fatal neurological and systemic manifestations. However, limited surveillance data collected through passive surveillance systems hampers characterization of their epidemiological dynamics. We fit a series of catalytic models to age-stratified seroprevalence data for EV-A71 and CVA6 collected in England at three time points (2006, 2011 and 2017) to estimate the force of infection (FOI) over time and assess possible changes in transmission.

Health impacts of takeaway management zones around schools in six different local authorities across England: a public health modelling study using PRIMEtime.

Background: In England, the number of takeaway food outlets ('takeaways') has been increasing for over two decades. Takeaway management zones around schools are an effective way to restrict the growth of new takeaways but their impacts on population health have not been estimated.

Methods: To model the impact of takeaway management zones on health, we used estimates of change in and exposure to takeaways (across home, work, and commuting buffers) based on a previous evaluation suggesting that 50% of new outlets were prevented from opening because of management zones.

No differences between remote and laboratory-based testing of cardiac interoceptive accuracy using the phase adjustment task.

In recent years, there has been an increased interest in remote testing methods for quantifying individual differences in interoception, the perception of the body's internal state. Hampering the adoption of remote methods are concerns as to the quality of data obtained remotely. Using data from several studies, we sought to compare the performance of individuals who completed the Phase Adjustment Task-a new measure of cardiac interoceptive accuracy that can be administered via a smartphone application-supervised in a laboratory against those who completed the task remotely.