An X-Linked Ataxia Syndrome in a Family with Hearing Loss Associated with a Novel Variant in the BCAP31 Gene.

Objective: Pathogenic variants in B-cell receptor-associated protein (BCAP31) are associated with X-linked, deafness, dystonia and cerebral hypomyelination (DDCH) syndrome. DDCH is congenital and non-progressive, featuring severe intellectual disability (ID), variable dysmorphism, and sometimes associated with shortened survival. BCAP31 encodes one of the most abundant chaperones, with several functions including acting as a negative regulator of endoplasmic reticulum (ER) calcium ion (Ca) concentration.

Interactive 3D visualisation technique used in pulmonary rehabilitation in chronic obstructive pulmonary disease: A randomised controlled study evaluating quality of life, compliance and use of health care.

Introduction: A pulmonary rehabilitation (PR) programme, including exercise training, education, and behaviour change, is highly recommended in treatment guidelines for chronic obstructive pulmonary disease (COPD). A new PR educational material for PR using an interactive three-dimensional (3D) visualisation technique was developed. There is little known regarding using 3D in this setting.

Associations Between Delayed Sleep Phase Syndrome and Daytime Napping with the Metabolic Syndrome Among Adults: Results from the Ravansar Non-Communicable Disease (RaNCD) Cohort Study.

Objective: Adverse sleep and wake patterns are associated with physical health complaints, including metabolic disorders. The aim of this study was to evaluate the relationship between delayed sleep phase syndrome (DSPS) and napping during the day with metabolic syndrome (MetS).

Methods: This study was conducted on 10 065 participants aged 35-65 years using baseline data from the Ravansar Non-Communicable Disease (RaNCD) cohort study.

Measurement Invariance on the Nine-Item Avoidant/Restrictive Food Intake Disorder Screen (NIAS) by Age and Reporter Status: Comparing ARFID Symptoms Among Self-Reporting Adults and Adolescents and Parent Reports of Children and Adolescents.

Objective: Self-report measures of ARFID symptoms (e.g., Nine-Item Avoidant/Restrictive Food Intake Disorder Screen [NIAS]) are used to assess symptom differences between groups.

Coagulation and platelet function in cold-stored whole blood on missions in a helicopter emergency service.

Background: Haemorrhage is a leading cause of morbidity and mortality in trauma, and prehospital transfusion of blood products is often necessary. Whole blood has been proposed to be the best alternative, but it is unclear whether, and how, storage and transport of the blood in a helicopter affects the blood units. We investigated the coagulation capacity and platelet function in whole blood at different time points during helicopter missions.

Application of orthodontic force in autotransplanted teeth: a longitudinal study.

Objectives: To longitudinally follow up a cohort of patients with autotransplanted teeth, assessing how the timing of starting orthodontic treatment impacts root length.

Materials And Methods: Patients under 18 with at least one open-apex autotransplanted premolar (AP) replaced to a central incisor position were included. Root/crown ratio (RCR) was calculated on periapical radiographs taken at intervals of 3-6 months after transplantation.

Injurious Falls Before, During, and After Stroke Diagnosis: A Population-based Study.

Objectives: We aimed to examine changes in the incidence of injurious falls before, during, and after stroke, and to identify risk factors of injurious falls before and after stroke diagnosis.

Design: Prospective cohort study.

Setting And Participants: Within the Swedish Twin Registry, 4431 participants (aged 66.

Descriptives and genetic correlates of eating disorder diagnostic transitions and presumed remission in the Danish registry.

Objective: Eating disorders (EDs) are serious psychiatric disorders with an estimated 3.3 million healthy life-years lost worldwide yearly. Understanding the course of illness, diagnostic transitions and remission, and their associated genetic correlates could inform both ED etiology and treatment.

MAPPING THE CEREBROSPINAL FLUID PROTEOME IN BIPOLAR DISORDER.

Background: Bipolar disorder (BD) is a severe psychiatric condition with unclear etiology and no established biomarkers. Here, we aimed to characterize the cerebrospinal fluid (CSF) proteome in euthymic BD individuals to identify potential protein biomarkers.

Methods: We employed nano-flow liquid chromatography coupled to high-resolution mass spectrometry to quantify over 2,000 CSF proteins in 374 individuals from two independent clinical cohorts (n=164+89 and 66+55 cases and controls, respectively).

Schools' need for information from the healthcare system when balancing between educational demands and the requirements of the child diagnosed with cancer: A qualitative study.

Purpose: To improve patient care by describing teachers' and school leaders' experiences in teaching children diagnosed with cancer, to better understand which information would be beneficial for schools to receive from the healthcare system.

Methods: This qualitative study was based on semi-structured interviews with 15 teachers and six school leaders in primary, secondary, and high schools in Sweden (student ages 6-18). The data was analyzed with thematic analysis.

Appendicectomy versus antibiotics for acute uncomplicated appendicitis in children: an open-label, international, multicentre, randomised, non-inferiority trial.

Background: Support for the treatment of uncomplicated appendicitis with non-operative management rather than surgery has been increasing in the literature. We aimed to investigate whether treatment of uncomplicated appendicitis with antibiotics in children is inferior to appendicectomy by comparing failure rates for the two treatments.

Methods: In this pragmatic, multicentre, parallel-group, unmasked, randomised, non-inferiority trial, children aged 5-16 years with suspected non-perforated appendicitis (based on clinical diagnosis with or without radiological diagnosis) were recruited from 11 children's hospitals in Canada, the USA, Finland, Sweden, and Singapore.

Physical Color Calibration of Digital Pathology Scanners for Robust Artificial Intelligence Assisted Cancer Diagnosis.

The potential of artificial intelligence (AI) in digital pathology is limited by technical inconsistencies in the production of whole slide images (WSIs). This causes degraded AI performance and poses a challenge for widespread clinical application, as fine-tuning algorithms for each site is impractical. Changes in the imaging workflow can also compromise diagnostic accuracy and patient safety.

A thermoplastic chip for 2D and 3D correlative assays combining screening and high-resolution imaging of immune cell responses.

We present an easy-to-use, disposable, thermoplastic microwell chip designed to support screening and high-resolution imaging of single-cell behavior in two- and three-dimensional (2D and 3D) cell cultures. We show that the chip has excellent optical properties and provide simple protocols for efficient long-term cell culture of suspension and adherent cells, the latter grown either as monolayers or as hundreds of single, uniformly sized spheroids. We then demonstrate the applicability of the system for single-cell analysis by correlating the dynamic cytotoxic response of single immune cells grown under different metabolic conditions to their intracellular cytolytic load at the end of the assay.

Early developmental trajectories of the impaired hand in infants with unilateral cerebral palsy.

Aim: To identify developmental trajectories of impaired hand function in infants aged 3 to 15 months with unilateral cerebral palsy (CP).

Method: Sixty-three infants (37 male; median gestational age 37 weeks [interquartile range 30-39.1 weeks]) recruited as part of a randomized trial with a confirmed diagnosis of unilateral CP were included.

Occupational exposure to diesel engine exhaust and first-time acute myocardial infarction - a nationwide register-based cohort study 1976- 2018.

Aims: Exposure to air pollution including diesel engine exhaust (DEE) is associated with increased risk of acute myocardial infarction (AMI). Few studies have investigated the risk of AMI according to occupational exposure to DEE. The aim of this study was to evaluate the association between occupational exposure to DEE and the risk of first-time AMI.

New onset refractory status epilepticus: Long-term outcomes beyond seizures.

We propose and prioritize important outcome domains that should be considered for future research investigating long-term outcomes (LTO) after new onset refractory status epilepticus (NORSE). The study was led by the international NORSE Institute LTO Working Group. First, literature describing the LTO of NORSE survivors was identified using a PubMed search and summarized to identify knowledge gaps.

Functional variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are associated with increased risk of colorectal cancer.

Background: Individuals with cystic fibrosis (CF; a recessive disorder) have an increased risk of colorectal cancer (CRC). Evidence suggests individuals with a single CFTR variant may also have increased CRC risk.

Methods: Using population-based studies (GECCO, CORECT, CCFR, and ARIC; 53 785 CRC cases and 58 010 controls), we tested for an association between the most common CFTR variant (Phe508del) and CRC risk.

Dietary carbohydrate intake and risk of type 2 diabetes: a 16-year prospective cohort study.

Despite considerable research underscoring the importance of carbohydrate intake in relation to the risk of type 2 diabetes (T2D), a comprehensive assessment of this relationship is currently lacking. We aimed to examine the associations of various types and food sources of dietary carbohydrate intake with the risk of T2D, to evaluate potential effect modification by other factors, including genetic susceptibility, and to explore the potential mediators for such associations. The present study included 161,872 participants of the UK Biobank who were free of prevalent cancer, cardiovascular disease, or diabetes, and had at least one validated 24-h dietary recall assessment.

Maternal exposure to nicotine causes oxidative stress and inflammatory changes in the ovaries of adult rats' offspring.

Nicotine is one of the most toxic substances found in cigarettes, but also found in chewing tobacco gum, patches and vaping products (electronic cigarettes). In addition to being a highly addictive chemical, it is capable of reducing fertility in men and women. In the ovaries, it can induce morphological changes and impair the formation of follicles, being a possible cause of changes in the reproductive cycle and anticipation of menopause in women whose mothers smoked during pregnancy.

Intentional weight reduction before surgery - A systematic review.

Introduction: Obesity may increase complexity of surgical procedures and increase the risk of perioperative complications. Weight reduction by the use of low energy diet (LED, ≤1200 kcal/day) or very low energy diet (VLED, ≤800 kcal/day) can reduce postoperative complications after bariatric surgery, but for most other types of surgery the evidence for its use remains uncertain. The aim of this systematic review was therefore to evaluate the scientific evidence in general for this routine.

COVID-19 Symptoms Only Minutely Influenced by Genes Among Children in a Nationwide Twin Cohort.

Background: The World Health Organization classified coronavirus disease (COVID-19) as a pandemic by March 11, 2020. Children had a milder disease than adults, and many were asymptomatic. The pandemic could be seen as a natural experiment with several changes, including time spent at home.

Polydopamine Nanohydrogel Decorated Adhesive and Responsive Hierarchical Microcarriers for Deafness Protection.

Cisplatin-induced ototoxicity is attributed to the aberrant accumulation of reactive oxygen species (ROS) within the inner ear. Antioxidants represented by α-lipoic acid (ALA) have been demonstrated to scavenge ROS in the cochlea, while effective delivery of these agents in vivo remains a major challenge. Here, a novel polydopamine (PDA) nanogel decorated adhesive and responsive hierarchical microcarriers for controllable is presented ALA delivery and deafness prevention.

Estimated pulse wave velocity associated with cognitive phenotypes in a rural older population in China: A cohort study.

Introduction: To examine the longitudinal association between estimated pulse wave velocity (ePWV) and cognitive phenotypes in a rural Chinese older population.

Methods: This population-based study included 1857 dementia-free participants (age ≥60 years) who were examined in 2014 and followed in 2018. ePWV was calculated using age and mean blood pressure (MBP).