Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants.

Congenital diaphragmatic hernia (CDH) is a severe congenital anomaly often accompanied by other structural anomalies and/or neurobehavioral manifestations. Rare de novo protein-coding variants and copy-number variations contribute to CDH in the population. However, most individuals with CDH remain genetically undiagnosed.

Small Bowel Obstruction Following Congenital Diaphragmatic Hernia Repair-Incidence and Risk Factors.

Background: Small bowel obstruction (SBO) is a known complication following congenital diaphragmatic hernia (CDH) repair, resulting in significant morbidity and potential mortality. Our study aims to evaluate the incidence and risk factors for SBO following CDH repair.

Methods: A single-institution retrospective review evaluated all CDH births between January 2010 and September 2022 (n = 120).

Functional Constipation: Pathophysiology, evaluation, and management.

Background: Functional constipation (FC), a disorder of the gut-brain interaction of multifactorial pathophysiology that is prevalent in paediatrics. It is associated with bothersome symptoms, increased healthcare costs, disgruntled caregivers and impaired health-related quality of life. Paediatric FC is a clinical diagnosis based on the Rome IV criteria and is characterised by decreased bowel movement frequency and/or hard, painful stools and can be complicated by retentive faecal incontinence.