Folinic acid as a treatment for autism in children: A within-subjects open-label study on safety and efficacy.

The folate cycle has been implicated in the pathophysiology of autism due to its role in the glutathione oxidative stress pathway, amino acid and DNA methylation reactions, and neurotransmitter synthesis pathway. Previous research on folinic acid supplementation in autistic children has suggested potential benefits. The primary aim of this pilot study was to determine the safety, feasibility and efficacy of oral folinic acid in improving communication and behaviour in autistic children.

Prevalence, management, health-care burden, and 90-day outcomes of prolonged mechanical ventilation in the paediatric intensive care unit (LongVentKids): an international, prospective, cross-sectional cohort study.

Background: The number of children requiring prolonged mechanical ventilation (PMV) has increased with the advancement of medical care. We aimed to estimate the prevalence of PMV worldwide, document demographic and clinical characteristics of children requiring PMV in paediatric intensive care units (PICUs), and to understand variation in clinical practice and health-care burden.

Methods: This international, multicentre, cross-sectional cohort study screened participating PICUs in 28 countries for children aged >37 postgestational weeks to 17 years who had been receiving mechanical ventilation (MV; invasive or non-invasive) for at least 14 consecutive days.

Fibromatosis-Like Metaplastic Carcinoma of the Breast: A Challenging Diagnosis With Potential Pitfalls.

Fibromatosis-like metaplastic carcinoma (FLMC) is a rare subtype of metaplastic carcinoma of the breast. Diagnosing this entity poses significant challenges, particularly in core biopsies due to limited sampling and overlap with benign spindle cell lesions such as nodular fasciitis and fibromatosis. We present an example of FLMC in an asymptomatic middle-aged woman.

Coinheritance of Hypertrophic and Arrhythmogenic Cardiomyopathy Variants in a Patient With Hypertrophic Cardiomyopathy.

Hypertrophic cardiomyopathy (HCM) and arrhythmogenic right ventricular cardiomyopathy (ARVC) are phenotypically distinct inherited cardiac diseases. This case report presents a woman aged 51 years with coinheritance of pathogenic/likely pathogenic variants of the β-myosin heavy chain ( p.Glu924Lys) and plakophilin 2 ( p.

Contextual factors influencing bubble continuous positive airway pressure implementation for paediatric respiratory distress in low-income and middle-income countries: a realist review.

Background: Bubble continuous positive airway pressure (bCPAP) is a low-cost, non-invasive respiratory support therapy for children with respiratory distress, but its effectiveness is dependent on the context. We aimed to understand contextual factors influencing bCPAP implementation for children aged 1-59 months in low-income and middle-income countries (LMICs) and to develop a theory explaining how these factors influence implementation outcomes.

Methods: In this realist review, we generated an initial programme theory comprising candidate context-mechanism-outcome configurations (CMOCs) via review of key references and team discussion.

Advancing precision medicine through the integration of clinical cardiovascular genetics - An Asian perspective.

Purpose: The integration of cardiovascular genetic (CVG) testing into clinical practice is gaining recognition, but its implementation in the Asian setting has not been widely reported. We present our experience developing a clinical CVG service and analyze its impact on patient care at our center.

Methods: In 2020, the National Heart Centre Singapore collaborated with SingHealth Duke-NUS Genomic Medicine Centre, to establish a comprehensive clinical CVG service.

Role of Hysteroscopy in the Management of Uterine Vascular Malformations with a Focus on Enhanced Myometrial Vascularity - A Review of Diagnosis and Treatment with the Suggested Algorithm.

Postpregnancy bleeding is common after failed pregnancy, termination of pregnancy, and postnatally after both vaginal and cesarean delivery. Pelvic ultrasound (US) is usually the initial imaging modality of choice to ascertain the cause when the bleeding is heavy or prolonged. When used in combination with Doppler studies, US can help differentiate retained products of conception (RPOC) from rarer uterine vascular malformations (UVM), including true arterial vascular malformations and areas of enhanced endometrial vascularity (EMV), which may themselves be associated with any RPOC present.

Machine learning approach to predict postoperative pain after spinal morphine administration during caesarean delivery.

Background: A major barrier to optimal pain management is the difficulty in predicting and assessing patients at high risk for significant pain across multiple locations within the institution in a timely manner. This is compounded by the fragmented display of clinical information on enterprise clinical platform, which further hinders delay the reviews and hence the increased risk of untreated pain. We evaluated and compared the predictive performance of six modelling techniques in predicting significant pain, defined as the maximum pain score of 3 or more on movement at the 13th to 24th hour after spinal morphine administration during caesarean delivery.

Lower limb nodules with angioinvasive Phaeoacremonium spp. fungus in an immunocompetent host.

Phaeohyphomycosis has been described to cause a variety of cutaneous manifestations in both immunocompetent and immunocompromised hosts. We report an unexpected case where an immunocompetent elderly female developed a rare angioinvasive fungal cutaneous infection. She had no known history of inoculation, and her lesions resolved without treatment.

Profile and healthcare utilisation patterns of adolescent frequent attenders in Singapore primary care: a retrospective study.

Objectives: Frequent attenders (FAs) visit healthcare settings at higher rates compared with the general population and use disproportionate amounts of healthcare resources. Frequent attendance (FA) has also been associated with greater morbidity and adverse socioeconomic circumstances. Our study aimed to describe the sociodemographic profile, clinical presentation, and healthcare utilisation patterns of adolescent FAs at polyclinics in Singapore and to determine the factors associated with adolescent FA.

The Renewing Intimacy and SExuality Intervention for Female Cancer Survivors: A Feasibility Study.

Purpose: This study examined the feasibility and acceptability of a three-session, psychological-based intervention to improve intimacy and sexuality outcomes among women with breast and gynaecologic cancer in Singapore.

Method: Patients from outpatient oncology clinics completed screeners for marital and sexual distress. Those who endorsed either marital or sexual distress were invited into the study, and were randomized to receive the intervention immediately or be waitlisted.

Accuracy of radiologists and radiology residents in detection of paediatric appendicular fractures with and without artificial intelligence.

Objectives: We aim to evaluate the accuracy of radiologists and radiology residents in the detection of paediatric appendicular fractures with and without the help of a commercially available fracture detection artificial intelligence (AI) solution in the hopes of showing potential clinical benefits in a general hospital setting.

Methods: This was a retrospective study involving three associate consultants (AC) and three senior residents (SR) in radiology, who acted as readers. One reader from each human group interpreted the radiographs with the aid of AI.

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships.

Purpose: The Clinical Genome Resource (ClinGen) Gene Curation Expert Panels (GCEPs) have historically focused on specific organ systems or phenotypes; thus, the ClinGen Syndromic Disorders GCEP (SD-GCEP) was formed to address an unmet need.

Methods: The SD-GCEP applied ClinGen's framework to evaluate the clinical validity of genes associated with rare syndromic disorders. 111 Gene-Disease Relationships (GDRs) associated with 100 genes spanning the clinical spectrum of syndromic disorders were curated.