Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.

Pathogenic heterozygous variants in CHD4 cause Sifrim-Hitz-Weiss syndrome, a neurodevelopmental disorder associated with brain anomalies, heart defects, macrocephaly, hypogonadism, and additional features with variable expressivity. Most individuals have non-recurrent missense variants, complicating variant interpretation. A few were reported with truncating variants, and their role in disease is unclear.

A Rare Presentation of Disseminated Peritoneal Leiomyomatosis Following Laparoscopic Hysterectomy and Its Multidisciplinary Management.

Disseminated peritoneal leiomyomatosis (DPL) is a rare entity. It is a benign disease but can mimic disseminated malignancy with extensive disease at multiple sites within the abdominopelvic cavity. The primary contributing factor is postulated to be peritoneal spillage of benign leiomyoma, especially after laparoscopic intervention, although hormonal influences might also play a role.

Pediatric erythromelalgia from multidisciplinary perspectives: a scoping review.

Erythromelalgia is a rare, chronic pain disorder characterized by the triad of intense burning sensation, warmth, and redness, primarily involving the hands and feet, and usually alleviated by cold and worsened by heat. The objective of this scoping review was to: 1) map the existing literature on erythromelalgia in youth, 2) identify knowledge gaps, and 3) inform directions for future research in pediatric erythromelalgia. One hundred and sixty-seven studies reporting 411 cases of childhood-onset erythromelalgia were identified.

Assessment of antenatal care quality in Ethiopia: Facility-based study using service provision assessment data.

Background: Antenatal care (ANC) coverage in low- and middle-income countries has increased in the past few decades. However, merely increasing care coverage may not enhance maternal and newborn health unless the recommended service components are also provided. Our aim was to assess the quality of ANC and its associated factors in Ethiopia.

A systematic review of machine learning applications in predicting opioid associated adverse events.

Machine learning has increasingly been applied to predict opioid-related harms due to its ability to handle complex interactions and generating actionable predictions. This review evaluated the types and quality of ML methods in opioid safety research, identifying 44 studies using supervised ML through searches of Ovid MEDLINE, PubMed and SCOPUS databases. Commonly predicted outcomes included postoperative opioid use (n = 15, 34%) opioid overdose (n = 8, 18%), opioid use disorder (n = 8, 18%) and persistent opioid use (n = 5, 11%) with varying definitions.

Trauma, coping, and adjustment when parenting a child with Dravet syndrome.

Objectives: Dravet syndrome (DS) is a severe developmental and epileptic encephalopathy that requires significant caregiver input across the lifespan. This predominantly falls on parents, who are faced with considerable challenges including physical demands, financial burdens, and sustained pressure on mental wellbeing leading to mental health difficulties. We aimed to develop a grounded theory model for the process of coping and adjustment that occurs when caring for a child who has a diagnosis of DS.

Examining perioperative factors in latex-allergic reactions.

Despite the implementation of latex-free gloves, the issue of natural rubber latex hypersensitivity persists within medical practice, posing challenges for both patients and health care professionals. A comprehensive understanding of the demographic groups susceptible to this condition is essential, along with the establishment of robust perioperative assessment and management protocols aimed at minimising complications and enhancing safety. This article endeavours to delve into the intricacies of perioperative management concerning latex hypersensitivity among patients, while also elucidating its ramifications for health care practitioners.

Trends in Mortality Due to Cardiovascular Diseases Among Patients With Parkinson's Disease in the United States: A Retrospective Analysis.

Background: Parkinson disease (PD) and cardiovascular diseases (CVD) present significant health burdens, particularly among older adults. Patients with PD have an elevated risk of CVD-related mortality. Analyzing mortality trends in this population may help guide focused interventions.

The Outcome of Ongoing Adult Endocrine Engagement Following Transition From Paediatric Care.

Objective: Transition is important for continuity of care for patients with chronic health conditions. The aim of this service evaluation was to determine the effectiveness of a transition clinic at a tertiary hospital with long-term attendance in the adult endocrine service.

Design: Retrospective case notes review of patients seen by paediatric endocrinology at the Royal Hospital for Children, Glasgow, at the time of transition to adult services, between 2012 and 2022.

Assessment of healthcare facilities' readiness to provide antenatal care in Ethiopia: facility based study using service provision assessment data.

Background: Readiness of healthcare facilities is essential for delivering quality healthcare services. There is limited evidence on the antenatal care (ANC) readiness of healthcare facilities in Ethiopia. This study aimed to assess the readiness of ANC services and its influencing factors in Ethiopian healthcare facilities.

Consensus outcomes between health professionals and parents for oral corticosteroids in treating preschool wheeze: a multi-national survey and nominal group technique study.

Objective: To obtain priority consensus for outcome measures of oral corticosteroid treatment of preschool wheeze that represent stakeholder groups.

Design: (1) A systematic review to identify a set of outcome measures; (2) an international survey for healthcare professionals (HCPs) and a nominal group meeting with parents; (3) a final consensus nominal group meeting with key HCPs (trial investigators and paediatric emergency medicine clinicians) and the same parent group.

Main Outcome Measures: Consensus priority of treatment outcome measures, outcome minimal clinically important differences (MCIDs) and level of concerns about adverse effects.

Effectiveness and Safety of Adalimumab in Patients With Very Early-Onset Inflammatory Bowel Disease: A Retrospective Study on Behalf of the Porto Inflammatory Bowel Disease Working Group of European Society for Pediatric Gastroenterology Hepatology and Nutrition.

Background And Aims: Patients with very early-onset inflammatory bowel disease (VEO-IBD), with an age of onset < 6 years, can present with severe manifestations and may require biologic therapy. Infliximab and adalimumab are approved for induction and maintenance in pediatric IBD patients but are licensed only above the age of 6 years. Effectiveness and safety data on adalimumab in this patient population are lacking.

The variable relationship between the National Early Warning Score on admission to hospital, the primary discharge diagnosis, and in-hospital mortality.

Background: Patients with an elevated admission National Early Warning Score (NEWS) are more likely to die while in hospital. However, it is not known if this increased mortality risk is the same for all diagnoses. The aim of this study was to determine and compare the increased risk of in-hospital mortality associated with an elevated NEWS and different primary discharge diagnoses in unselected emergency admissions to a UK university teaching hospital.

Baseline Drug Clearance Predicts Outcomes in Children With Inflammatory Bowel Disease Treated With Vedolizumab: Results From the VedoKids Prospective Multicentre Study.

Background: The pharmacokinetics of biologic agents can differ between children and adults with inflammatory bowel disease (IBD), often necessitating modified paediatric dosing strategies.

Aims: To define the exposure-response relationship of vedolizumab in the paediatric IBD VedoKids cohort including the effect of baseline clearance on deep biochemical remission (normal C-reactive protein [CRP]/erythrocyte sedimentation rate [ESR] and steroid-free remission) at 30 weeks, and to use population pharmacokinetic models to find the best matches between adult and paediatric pharmacokinetic profiles.

Methods: We sought a pharmacokinetic model on 312 serum vedolizumab concentrations from 129 children, assisted by a published adult model as a Bayesian prior.

Iron management and exercise training in individuals with chronic kidney disease: lived experiences.

Background: Non-anaemic iron deficiency is highly prevalent in people living with chronic kidney disease (CKD) but is underdiagnosed and undertreated, especially in earlier stages of CKD. A multicentre trial assessing the effect of intravenous iron supplementation in iron-deficiency but not anaemic people with CKD included a qualitative sub-study that aimed to explore the patient experience and psychosocial impact of living with CKD and iron deficiency, and the experience of the therapeutic intervention (intravenous iron and exercise).

Methods: Semi-structured interviews were conducted with 23 trial participants blinded to treatment.

Small molecules in idiopathic inflammatory myopathies: a systematic review and a multicenter case series about Janus kinase inhibitors and apremilast.

Objective: Idiopathic inflammatory myopathies (IIM) are rare autoimmune diseases that primarily affect striated muscles; skin, joints, and lungs may be involved with different degrees of severity. Traditional treatment relies on high-dose glucocorticoids and conventional synthetic disease-modifying antirheumatic drugs.

Methods: A growing amount of evidence is demonstrating the potential role of novel treatments in the management of IIM.

Reflecting on the impact of the COVID pandemic on patient management and its subsequent influence on long-term outcomes: a case-control study in the field of esophago-gastric cancer.

Background: The delivery of cancer services changed significantly during the COVID-19 pandemic. This study aimed to describe changes in presentations, assess the change in recommendations by the MDT during the pandemic, and describe the subsequent long-term impact of these changes on survival rates in patients with EG cancer.

Methods: A retrospective cohort study was designed comparing three patient groups of those referred to EG MDT in the same 6-month period pre-pandemic (PP;2019) during the initial phase of the pandemic (P1;2020) and the year after the initial phase (P2;2021).

Wearable textile sensors for continuous glucose monitoring.

Diabetes and cardiovascular disease are interlinked chronic conditions that necessitate continuous and precise monitoring of physiological and environmental parameters to prevent complications. Non-invasive monitoring technologies have garnered significant interest due to their potential to alleviate the current burden of diabetes and cardiovascular disease management. However, these technologies face limitations in accuracy and reliability due to interferences from physiological and environmental factors.

Neurodevelopmental Outcomes after Multiple General Anesthetic Exposures before 5 Years of Age: A Cohort Study.

Background: The general anaesthesia or awake-regional anaesthesia in infancy (GAS) trial demonstrated evidence that most neurodevelopmental outcomes at 2 and 5 yr of age in infants who received a single general anesthetic for elective inguinal herniorrhaphy were clinically equivalent when compared to infants who did not receive general anesthesia. More than 20% of the children in the trial had at least one subsequent anesthetic exposure after their initial surgery. Using the GAS database, this study aimed to address whether multiple (two or more) general anesthetic exposures compared to one or no general anesthetic exposure in early childhood were associated with worse neurodevelopmental outcomes at 5 yr.

Meta-analysis of longitudinal comparison of transcatheter versus surgical aortic valve replacement in patients at low to intermediate surgical risk.

Background: Surgical aortic valve replacement (SAVR) is the commonly used approach for aortic valve replacement (AVR) in patients with aortic stenosis at low or intermediate surgical risk. However, transcatheter aortic valve replacement (TAVR) has emerged as an alternative to SAVR for AVR. This meta-analysis aims to assess the comparative efficacy and safety of TAVR versus SAVR in low-to-intermediate surgical risk patients by analyzing temporal trends in the outcomes of TAVR and SAVR at various follow-up intervals, providing a more detailed understanding.

Comparing achievability and reproducibility of pulsed wave doppler and tissue doppler myocardial performance index and spatiotemporal image correlation annular plane systolic excursion in the cardiac function assessment of normal pregnancies.

Objectives: Multiple techniques have been proposed for functional fetal cardiology, including pulsed-wave (PW) and tissue Doppler imaging (TDI), Myocardial Performance Index (MPI), annular plane systolic excursion (TAPSE/MAPSE) and spatiotemporal image correlation (STIC). We aimed to compare these techniques' achievability and reproducibility to determine their clinical utility for each cardiac side.

Methods: Uncomplicated pregnancies from 22 to 39 weeks were recruited and images and volumes stored for offline analysis.