The risk of childhood asthma across diverse climates: growing up in Australia.

This study investigates the association between climate and childhood asthma in Australia. Data from the Longitudinal Study of Australian Children (LSAC) was used to analyse this association in children who were 6-15 years between 2004 and 2018. Asthma prevalence decreased from 16% at 6-7 years to 13% at 14-15 years.

Reviewing the Evidence Base for Topical Steroid Withdrawal Syndrome in the Research Literature and Social Media Platforms: An Evidence Gap Map.

Background: Within the dermatological community, topical steroid withdrawal syndrome (TSWS) is a medically contested condition with a limited research base. Published studies on TSWS indicate that it is a distinct adverse effect of prolonged use of topical corticosteroids, but there is a paucity of high-quality research evidence. Among the "patient community," awareness has been increasing, with rapid growth in social media posts on TSWS and the introduction of online communities such as the International Topical Steroid Awareness Network.

Propionic Acidemia diagnosed in Amish adults and pregnancy outcomes: A case series.

Background: Propionic acidemia (PA) is an inborn error of metabolism (IEM) that typically presents in the newborn. The Amish of North America have an increased prevalence of PA due to a founder variant in the gene. The Amish PA phenotype is variable, and some individuals remain asymptomatic and undiagnosed until adulthood.

GOLD Science Committee recommendations for the use of pre- and post-bronchodilator spirometry for the diagnosis of COPD.

The Global initiative for chronic Obstructive Lung Disease (GOLD) report states that the diagnosis of chronic obstructive pulmonary disease (COPD) should be considered in individuals with chronic respiratory symptoms and / or exposure to risk factors. Forced spirometry demonstrating airflow obstruction after bronchodilation is required to confirm the diagnosis using a threshold of forced expiratory volume in 1 s (FEV) / forced vital capacity (FVC) ratio<0.7.

Association of aging acceleration with serum neurofilament light chain levels: Implications for the roles of modifiable aging factors.

Introduction: Neurofilament light chain (NfL) is a specific biomarker of neuroaxonal damage and related neurodegenerative diseases. Aging acceleration, which reflects the impact of modifiable factors on the aging process, is increasingly recognized for its relevance. While normal aging is known to contribute substantially to neuroaxonal damage and many neurodegenerative diseases, the effects of aging acceleration warrant further investigation.

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.

Supporting Patients' Use of Digital Services in Primary Health Care in England: Synthesis of Evidence From a Mixed Methods Study of "Digital Facilitation".

Background: General medical practitioners and other staff at primary care medical practices have an important role in facilitating patient access to online services in the National Health Service in England. These services range from online ordering of repeat prescriptions to conducting online consultations with health care professionals. We have defined "digital facilitation" as that range of processes, procedures, and personnel that seeks to support patients in their uptake and use of online services.

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.

The effects of stress on surgical performance: a systematic review.

Introduction: Acute stress, the psychological response to short-term challenging stimuli, is frequently encountered in the high-pressure environment of the operating theatre. Surgeon stress is associated with deterioration in surgical performance, surgical team working and compromised patient safety. Given these concerns, the aim of this review was to understand the impact of acute stress on surgical performance in technical and non-technical domains as well as patient outcomes.

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.

Alzheimer's disease-specific transcriptomic and epigenomic changes in the tryptophan catabolic pathway.

Background: Neurodegenerative disorders, including Alzheimer's disease (AD), have been linked to alterations in tryptophan (TRP) metabolism. However, no studies to date have systematically explored changes in the TRP pathway at both transcriptional and epigenetic levels. This study aimed to investigate transcriptomic, DNA methylomic (5mC) and hydroxymethylomic (5hmC) changes within genes involved in the TRP and nicotinamide adenine dinucleotide (NAD) pathways in AD, using three independent cohorts.

Running Gait Complexity During an Overground, Mass-Participation Five-Kilometre Run.

Human locomotion contains innate variability which may provide health insights. Detrended fluctuation analysis (DFA) has been used to quantify the temporal structure of variability for treadmill running, although it has been less commonly applied to uncontrolled overground running. This study aimed to determine how running gait complexity changes in response to gradient and elapsed exercise duration during uncontrolled overground running.

The association between cancer risk assessment tool use and GP consultation duration: an observational study.

Background: England is short of General Practitioners (GPs). GP consultation rates, consultation duration, and workload are increasing. Electronic clinical decision support (eCDS) tools assist decision-making for screening, diagnosis, and risk-management.

EUNOS 2024: Conference Report Rotterdam, The Netherlands, 3rd-6th June 2024.

The 16th biennial European Neuro-ophthalmology Society (EUNOS) meeting took place in Rotterdam, Netherlands, from June 3-6, 2024. This landmark event attracted nearly 400 scientists and clinicians worldwide, featuring groundbreaking presentations, symposia, and posters. Notably, it hosted the world's first symposium on Artificial Intelligence (AI) in Neuro-ophthalmology and introduced the inaugural Young Investigators' platform session.

Supporting patients to use online services in general practice: focused ethnographic case study.

Background In England online services in general practice encompass a range of provision from ordering repeat medication to having a consultation. Some groups of individuals may find accessing and/or using such services difficult and may require 'digital facilitation', that is the range of processes, procedures, and personnel which seeks to support NHS patients in their uptake and use of online services. Aim To gain insight, from the perspective of general practice staff and patients/carers, into how and why digital facilitation might lead to benefits, and the key processes involved in supporting patients to use online services.

Illegitimate publishers in physiology: attracting citations and infiltration into legitimate databases.

An increase in scholarly publishing has been accompanied by a proliferation of potentially illegitimate publishers (PIPs), commonly known as "predatory publishers." These PIPs often engage in fraudulent practices and publish articles that are not subject to the same scrutiny as those published in journals from legitimate publishers (LPs). This places academics at risk, in particular students who utilize journal articles for learning and assignments.

Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease.

Pathogenic variants in either the mitochondrial or nuclear genomes are associated with a diverse group of human disorders characterized by impaired mitochondrial function. Within this group, an increasing number of families have been identified, where Mendelian genetic disorders implicate defective mitochondrial RNA biology. The PDE12 gene encodes the poly(A)-specific exoribonuclease, involved in the quality control of mitochondrial non-coding RNAs.

Clinical decision making and risk appraisal using electronic risk assessment tools (eRATs) for cancer diagnosis: A qualitative study of GP experiences.

Background: Electronic Risk Assessment Tools (eRATs) are intended to improve early primary care cancer diagnosis. eRATs which interrupt a consultation to suggest a possibility of a cancer diagnosis, could impact clinical appraisal and the experience of the consultation. This study explores this issue using data collected within the context of the ERICA trial.

Equality of opportunity for timely dementia diagnosis (EQUATED): a qualitative study of how people from minoritised ethnic groups experience the early symptoms of dementia and seek help.

Introduction: People from minoritised ethnic groups are diagnosed with dementia later in the disease. We explored pathways that may determine the timing of diagnoses in a UK ethnically diverse, urban area.

Methods: We conducted 61 semi-structured interviews: 10 community-dwelling older people from minoritised ethnic backgrounds with diagnosed and undiagnosed dementia (mean age = 72 years; males = 5/10), 30 family members (51; 10/30), 16 health or social care professionals (42; 3/15), 3 paid carers and 2 interpreters for people with dementia.