De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ~30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the core of the major spliceosome. Recently, recurrent variants in the U4 RNA, transcribed from the gene, and in at least two other genes were discovered to cause neurodevelopmental disorder.

Successful treatment of adult cherubism with a 60 mg denosumab 6-monthly regimen.

Cherubism is a rare autosomal dominant skeletal dysplasia, affecting the maxilla and/or mandible. The condition typically has childhood onset, followed by progression until puberty, with subsequent regression. Cherubism lesions share histological features with giant cell tumor of bone, where high-dose monthly denosumab is an effective medical treatment.

Circulating lipocalin-2 across the adult lifespan.

Lipocalin-2 (LCN2), a hormone produced by adipocytes, osteoblasts, and renal tubular cells, is implicated in age-related diseases, including cardio-metabolic disease. To understand the role LCN2 may play in pathological states, we first need to elucidate the relationship between circulating LCN2 with indices of cardio-metabolic health during "normal" aging. This study examined the relationship between serum levels of LCN2, age, and cardio-metabolic measures across the adult lifespan in males and females.

Children exposed to family and domestic violence perpetrated against their mother are at an increased risk of emergency department attendance in childhood.

Objective: To determine the association between family and domestic violence (FDV) exposure and ED attendance in Australian children.

Methods: The present study comprised a population-based retrospective cohort study using deidentified linked administrative data of children born 1987-2010, in Western Australia (n = 58 352). Multivariate Cox proportional hazards modelling was used to estimate the association of FDV exposure with ED attendance.

Is methamphetamine blood concentration in emergency department patients associated with the clinical picture?

Aims: This study aimed to describe clinical features and outcomes of patients presenting to the emergency department with analytically confirmed methamphetamine intoxication, to determine the blood concentration of methamphetamine and to test its association with clinical findings.

Design: The Western Australian Illicit Substance Evaluation (WISE) study is a prospective observational cohort study.

Setting: Royal Perth Hospital Emergency Department, Perth, Australia, between 2016 and 2018.

Fluoxetine and fractures after stroke: an individual patient data meta-analysis of three large randomised controlled trials of fluoxetine for stroke recovery.

Background: Observational studies have shown that selective serotonin reuptake inhibitors are associated with an increased risk of bone fractures, but the association can be confounded by indication and other sources of systematic bias that can be minimised in randomised controlled trials (RCTs).

Aim: Our aim was to report the rate, site, context, and predictors of fractures after stroke, and whether the fractures modified the effect of fluoxetine on modified Rankin score (mRS) at six months in an individual patient data meta-analysis of 5907 patients enrolled in three RCTs of fluoxetine (20mg for six months) for stroke recovery.

Methods: We classified fractures by treatment allocation, site (and thus likelihood of osteoporosis) and context, then performed multivariable analyses to explore independent predictors of fractures.

Methods for data extraction and data transformation in convergent integrated mixed methods systematic reviews.

Objective: The objective of this guidance paper is to describe data transformation involving qualitization, including when and how to undertake this process, and to clarify how it aligns with data extraction in order to expand on the current guidance for JBI convergent integrated mixed methods systematic reviews (MMSRs).

Introduction: The convergent integrated approach to MMSRs involves combining extracted data from both quantitative studies (including the quantitative components of mixed methods studies) and qualitative studies (including the qualitative components of mixed methods studies). This process requires data transformation, which can occur either by converting qualitative data into quantitative data (ie, quantitizing) or converting quantitative data into qualitative data (ie, qualitizing).

Enhancing Tolerance to Combined Heat and Drought Stress in Cool-Season Grain Legumes: Mechanisms, Genetic Insights, and Future Directions.

The increasing frequency of concurrent heat and drought stress poses a significant challenge to agricultural productivity, particularly for cool-season grain legumes, including broad bean (Vicia Faba L.), lupin (Lupinus spp.), lentil (Lens culinaris Medik), chickpea (Cicer arietinum L.

A preliminary hospital-based study of a hybrid placement incorporating traditional and non-traditional placement and supervisory model elements: Perspectives of undergraduate speech-language pathology.

Purpose: This preliminary study sought to explore speech-language pathology students' perspectives of a novel placement experience embedding traditional and non-traditional placement and supervisory model-elements in a hospital setting.

Method: A mixed-method sequential explanatory design was used, incorporating an online survey comprising of 26 questions and a focus group. Descriptive statistics were obtained and a reflexive thematic approach was used to analyse the transcripts.

Identifying High-Risk Patients for Paediatric Unplanned Readmissions: Insights From a Western Sydney Hospital.

Aim: To identify factors and diagnoses associated with unplanned readmission of paediatric patients to a Western Sydney metropolitan hospital.

Method: A retrospective cross-sectional study on paediatric patients admitted to a non-tertiary hospital in Western Sydney from January 2017 to December 2022. Multivariate modelling was used to determine demographic factors and diagnoses associated with unplanned readmission.

Clinical toxicity of nitazene detections in two Australian emergency department toxicosurveillance systems.

Introduction: Nitazenes are a group of potent synthetic opioids that have had increasing prominence as novel psychoactive drugs in the last 5 years. We describe emergency department nitazene-related presentations.

Methods: This is a prospective series of patients with analytically confirmed nitazene presentations identified by the Emerging Drugs Network of Australia and Emerging Drugs Network of Australia Victoria.

A multi-modal computational fluid dynamics model of left atrial fibrillation haemodynamics validated with 4D flow MRI.

Atrial fibrillation (AF) is characterized by rapid and irregular contraction of the left atrium (LA). Impacting LA haemodynamics, this increases the risk of thrombi development and stroke. Flow conditions preceding stroke in these patients are not well defined, partly due the limited resolution of 4D flow magnetic resonance imaging (MRI).

'PHACE' on the 'face'.

Infantile haemangiomas are a common presentation in infants within the first few months of life. The majority of haemangiomas are benign; however, large haemangiomas (≥5 cm), especially those involving the face, may indicate a more serious underlying neurocutaneous disorder known as PHACE (Posterior fossa malformations, Haemangioma, Arterial anomalies, Coarctation of the aorta/Cardiac defects and Eye abnormalities) syndrome. The authors report an unusual case of possible PHACE syndrome in a young male toddler with a large facial haemangioma.

Quantum food and nutrition: Subatomic approaches to nourishment for health and well-being.

Nutrition science has been represented as biomedical, environmental, societal and economic field, but quantum biology is sidestepped, thereby obscuring cognate problems and solutions. We are generally nourished for health, optimal well-being, longevity and personal security through sustainable livelihoods. Our nourish-ments include not only food and energy but also light from the sun, the firmament and the earth itself, along with information transmitted in subatomic particles and electromagnetic wave forms.

Effect of a physical activity and healthy eating lifestyle intervention in pregnancy on fetal growth trajectories: The DALI randomised controlled trial.

Background: Obesity during pregnancy is related to fetal overgrowth. Effective interventions that can mitigate this risk are needed.

Objectives: This study aimed to investigate the effect of a lifestyle intervention for pregnant women with obesity on fetal growth trajectories.

L-histidine makes Ni 'visible' for plant signalling systems: Shading the light on Ni-induced Ca and redox signalling in plants.

Nickel is both an important nutrient and an ecotoxicant for plants. Organic ligands, such as L-histidine (His), play a key role in Ni detoxification. Here, we show that His (added together with 0.

Aboveground-belowground linkages across vegetation degradation gradients differ among native eucalypt communities.

Native vegetation degradation impacts soil communities and their functions. However, these impacts are often studied by comparing soil biotic attributes across qualitatively defined, discrete degradation levels within a single plant community at a specific location. Direct quantification of the relationships between vegetation and soil attributes across continuous degradation gradients and at larger scales is rare but holds greater potential to reveal robust patterns in aboveground-belowground linkages that may apply across different plant communities.

Primary Antibody Deficiencies: Curation Of Gene-Disease Relationships Using A ClinGen Validation Framework.

Background: The Clinical Genome Resource (ClinGen) is an international collaborative effort between scientists and clinicians, diagnostic and research laboratories as well as the patient community. Using a standardized framework, ClinGen has established guidelines to classify gene-disease relationships as Definitive, Strong, Moderate, and Limited based on available scientific and clinical evidence. When the genetic and functional evidence for a gene-disease relationship has conflicting interpretations or contradictory evidence, they can be Disputed or Refuted.

Transcriptional regulation of Rankl by Txnip-Ecd in aging and diabetic related osteoporosis.

Introduction: Bone homeostasis between osteoclast bone resorption and osteoblastic bone formation is tightly regulated by a series of factors such as the receptor activator of nuclear factor-κB ligand (RANKL). Denosumab that neutralizes RANKL is effective and widely applied in the treatment of postmenopausal osteoporosis. However, factors that participated in the RANKL-related bone remodeling process in primary and secondary osteoporosis are less known.

Interrelated issues within the Water-Energy-Food nexus with a focus on environmental pollution for sustainable development: A review.

Pollution within the Water-Energy-Food (WEF) nexus has a profound impact on environmental health, human well-being, and the sustainability of essential resource systems. This study seeks to highlight the crucial link between pollution and the WEF nexus, aiming to inform authorities and policymakers to foster the development of sustainable policies. The research employed a comprehensive systematic review methodology, utilizing the Scopus database to identify 2524 relevant peer-reviewed articles published between 2015 and 2023.

Population genomics reveals strong impacts of genetic drift without purging and guides conservation of bull and giant kelp.

Kelp forests are declining in many parts of the northeast Pacific. In small populations, genetic drift can reduce adaptive variation and increase fixation of recessive deleterious alleles, but natural selection may purge harmful variants. To understand evolutionary dynamics and inform restoration strategies, we investigated genetic structure and the outcomes of genetic drift and purging by sequencing the genomes of 429 bull kelp (Nereocystis luetkeana) and 211 giant kelp (Macrocystis sp.

Resistance Training and the Risk of Breast Cancer: A Population-Based Case-Control Study.

Background: Convincing evidence supports that moderate to vigorous intensity physical activity decreases the risk of breast cancer. However, less is known about the role specific domains of physical activity play in breast cancer prevention, such as resistance training (RT). This case-control study investigated the association between RT and breast cancer risk.