Evaluating the factor structure of the Wechsler Adult Intelligence Scale, Fourth Edition (WAIS-IV) in adults with congenital heart disease.

: While it is generally assumed that common neurobehavioral assessments, such as the Wechsler Adult Intelligence Scale, Fourth Edition (WAIS-IV), function similarly in clinical and non-clinical populations, this has not been validated in adults with congenital heart disease (CHD). In this study, we examined the latent factor structure of the WAIS-IV in adults with d-transposition of the great arteries (d-TGA) who participated in the Boston Circulatory Arrest Study. : The WAIS-IV was administered as part of a larger assessment battery.

State Medicaid Policies Governing Access to Medications for Opioid Use Disorder (MOUD) and MOUD Treatment Use in a Large Sample of People Who Inject Drugs in 20 U.S. States.

Background: People who inject drugs (PWID) are especially vulnerable to harms from opioid use disorder (OUD). Medications for OUD (MOUD) effectively reduce overdose and infectious disease transmission risks.

Objective: We investigate whether state Medicaid coverage for methadone and buprenorphine is related to past-year MOUD use among PWID using cross-sectional, multilevel analyses with individual-level data on PWID from the Centers for Disease Control and Prevention's 2018 National HIV Behavioral Surveillance.

The system can change: a feasibility study of a doula-clinician collaborative at a large tertiary hospital in the United States.

Background: Doulas, non-clinical professionals who provide support throughout the perinatal period, can positively impact patient experiences and clinical outcomes during birth. Doulas often support hospital-based births without being employed by the hospital system, resulting in varied relationships with hospitals and clinicians. Systems-level changes are needed to maximize collaboration between hospitals and doulas to ensure facilitation of, and not barriers to, doula support.

Altered chromatin landscape and 3D interactions associated with primary constitutional MLH1 epimutations.

Background: Lynch syndrome (LS), characterised by an increased risk for cancer, is mainly caused by germline pathogenic variants affecting a mismatch repair gene (MLH1, MSH2, MSH6, PMS2). Occasionally, LS may be caused by constitutional MLH1 epimutation (CME) characterised by soma-wide methylation of one allele of the MLH1 promoter. Most of these are "primary" epimutations, arising de novo without any apparent underlying cis-genetic cause, and are reversible between generations.

Patient-derived response estimates from zero-passage organoids of luminal breast cancer.

Background: Primary luminal breast cancer cells lose their identity rapidly in standard tissue culture, which is problematic for testing hormone interventions and molecular pathways specific to the luminal subtype. Breast cancer organoids are thought to retain tumor characteristics better, but long-term viability of luminal-subtype cases is a persistent challenge. Our goal was to adapt short-term organoids of luminal breast cancer for parallel testing of genetic and pharmacologic perturbations.

Health checks for autistic adults: study protocol for a cluster randomised controlled trial.

Background: Autistic people commonly have physical and mental health conditions. They also frequently experience barriers to accessing healthcare, contributing to problems identifying and treating health conditions. These factors may lead to increased and earlier morbidity and lower average life expectancy for autistic people.

Reassessing the roles of oxidative DNA base lesion 8-oxoGua and repair enzyme OGG1 in tumorigenesis.

ROS cause multiple forms of DNA damage, and among them, 8-oxoguanine (8-oxoGua), an oxidized product of guanine, is one of the most abundant. If left unrepaired, 8-oxoGua may pair with A instead of C, leading to a mutation of G: C to T: A during DNA replication. 8-Oxoguanine DNA glycosylase 1 (OGG1) is a tailored repair enzyme that recognizes 8-oxoGua in DNA duplex and initiates the base excision repair (BER) pathway to remove the lesion and ensure the fidelity of the genome.

Association of continuous renal replacement therapy downtime with fluid balance gap and clinical outcomes: a retrospective cohort analysis utilizing EHR and machine data.

Background: Fluid balance gap (FBgap-prescribed vs. achieved) is associated with hospital mortality. Downtime is an important quality indicator for the delivery of continuous renal replacement therapy (CRRT).

A case of subcutaneous metastatic malignant melanoma of the left medial ankle: a case report and review of literature.

Background: Although rare, melanoma confined to the dermis or subcutaneous tissue without evidence of a primary cutaneous site should provoke consideration of melanoma of unknown primary. This diagnosis carries a favorable prognosis when compared with cutaneous metastatic melanoma. Several hypotheses have been proposed for how melanoma of unknown primary develops, two of which were considered in our patient case: (1) spontaneous regression of the primary tumor following metastasis or (2) the traumatic implantation of ectopic melanocytic cells in other tissues, such as the subcutaneous tissue.

Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.

Background: In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) developed standardized variant curation guidelines for Mendelian disorders. Although these guidelines have been widely adopted, they are not gene- or disease-specific. To mitigate classification discrepancies, the Clinical Genome Resource FBN1 variant curation expert panel (VCEP) was established in 2018 to develop adaptations to the ACMG/AMP criteria for FBN1 in association with Marfan syndrome.

Tackling the primary healthcare workforce crisis: time to talk about health systems and governance-a comparative assessment of nine countries in the WHO European region.

Background: Primary healthcare has emerged as a powerful global concept, but little attention has been directed towards the pivotal role of the healthcare workforce and the diverse institutional setting in which they work. This study aims to bridge the gap between the primary healthcare policy and the ongoing healthcare workforce crisis debate by introducing a health system and governance approach to identify capacities that may help respond effectively to the HCWF crisis in health system contexts.

Methods: A qualitative comparative methodology was employed, and a rapid assessment of the primary healthcare workforce was conducted across nine countries: Denmark, Germany, Kazakhstan, Netherlands, Portugal, Romania, Serbia, Switzerland, and the United Kingdom/ England.

Research priorities for improving cognitive and neuropsychological outcomes in hydrocephalus.

Hydrocephalus is a neurological disorder that impacts approximately 85 per 100,000 individuals worldwide and is associated with motor and cognitive impairments. While many advances in surgical interventions have helped substantially improve the survival rates and quality of life of those affected, there continues to be significant gaps in our understanding of the etiology of this heterogeneous condition as well as its specific neuropsychological and functional challenges across different phases of life. To address these limitations, the Hydrocephalus Association and Rudi Schulte Research Institute organized a workshop titled, "Improving Cognitive and Psychological Outcomes in Hydrocephalus", composed of top academics in the fields of hydrocephalus, cognition, and neuropsychology, as well as individuals with hydrocephalus or their caregivers.

Supporting teams with designing for dissemination and sustainability: the design, development, and usability of a digital interactive platform.

Background: Designing for Dissemination and Sustainability (D4DS) principles and methods can support the development of research products (interventions, tools, findings) that match well with the needs and context of the intended audience and setting. D4DS principles and methods are not well-known or used during clinical and public health research; research teams would benefit from applying D4DS. This paper presents the development of a new digital platform for research teams to learn and apply a D4DS process to their work.

Identification of progressive pulmonary fibrosis: consensus findings from a modified Delphi study.

Background: We sought consensus among practising respiratory physicians on the prediction, identification and monitoring of progression in patients with fibrosing interstitial lung disease (ILD) using a modified Delphi process.

Methods: Following a literature review, statements on the prediction, identification and monitoring of progression of ILD were developed by a panel of physicians with specialist expertise. Practising respiratory physicians were sent a survey asking them to indicate their level of agreement with these statements on a binary scale or 7-point Likert scale (- 3 to 3), or to select answers from a list.

Deep learning enhanced transmembranous electromyography in the diagnosis of sleep apnea.

Obstructive sleep apnea (OSA) is widespread, under-recognized, and under-treated, impacting the health and quality of life for millions. The current gold standard for sleep apnea testing is based on the in-lab sleep study, which is costly, cumbersome, not readily available and represents a well-known roadblock to managing this huge societal burden. Assessment of neuromuscular function involved in the upper airway using electromyography (EMG) has shown potential to characterize and diagnose sleep apnea, while the development of transmembranous electromyography (tmEMG), a painless surface probe, has made this opportunity practical and highly feasible.

Outcomes of percutaneous endoscopic gastrostomy (PEG) in HIV patients.

Background: Percutaneous Endoscopic Gastrostomy (PEG) tube insertion, a routine procedure for long-term enteral nutrition, serves as a crucial intervention for patients who are incapable of tolerating oral intake or meeting adequate nutritional requirements. PEG tube placement carries complications like bleeding and infection. Impact of PEG tubes on the 30-day and long-term mortality in HIV patients is unknown.

Nanopore sequencing as a novel method of characterising anorexia nervosa risk loci.

Background: Anorexia nervosa (AN) is a polygenic, severe metabopsychiatric disorder with poorly understood aetiology. Eight significant loci have been identified by genome-wide association studies (GWAS) and single nucleotide polymorphism (SNP)-based heritability was estimated to be ~ 11-17, yet causal variants remain elusive. It is therefore important to define the full spectrum of genetic variants in the wider regions surrounding these significantly associated loci.

Automated differentiation of wide QRS complex tachycardia using QRS complex polarity.

Background: Wide QRS complex tachycardia (WCT) differentiation into ventricular tachycardia (VT) and supraventricular wide complex tachycardia (SWCT) remains challenging despite numerous 12-lead electrocardiogram (ECG) criteria and algorithms. Automated solutions leveraging computerized ECG interpretation (CEI) measurements and engineered features offer practical ways to improve diagnostic accuracy. We propose automated algorithms based on (i) WCT QRS polarity direction (WCT Polarity Code [WCT-PC]) and (ii) QRS polarity shifts between WCT and baseline ECGs (QRS Polarity Shift [QRS-PS]).

High altitudes, deeper insights: multicenter cardiovascular magnetic resonance study on hypertrophic cardiomyopathy.

Objectives: Altitude is a known factor in cardiovascular disease, but its impact on hypertrophic cardiomyopathy (HCM) patients remains unclear. This study aimed to determine whether living at high altitudes affects the extent of late gadolinium enhancement (LGE) and left ventricular (LV) strain in HCM patients.

Methods: This retrospective cross-sectional study was conducted across four hospitals located at different altitudes in China.