Heterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).

Multisystem inflammatory syndrome in children (MIS-C) is a rare condition following SARS-CoV-2 infection associated with intestinal manifestations. Genetic predisposition, including inborn errors of the OAS-RNAseL pathway, has been reported. We sequenced 154 MIS-C patients and utilized a novel statistical framework of gene burden analysis, "burdenMC," which identified an enrichment for rare predicted-deleterious variants in BTNL8 (OR = 4.

Tumour mimics in paediatric neuroimaging.

Distinguishing tumours from other conditions is a primary challenge in paediatric neuro-radiology. This paper aims to describe mimics, which are non-neoplastic conditions that have features similar to a neoplastic process caused by a non-neoplastic entity, and chameleons, which are uncommon presentations of brain tumours that are mistaken for other diagnoses. By doing so, we aim to raise awareness of these conditions and prevent inappropriate investigations or treatment in children.

Implementation of a National Prenatal Exome Sequencing Service in England: Cost-Effectiveness Analysis.

Objective: Prenatal exome sequencing (pES) for diagnosing fetal structural anomalies commenced in the English National Health Service (NHS) in 2020. We evaluated cost-effectiveness to the healthcare system, and costs to families, of pES in addition to standard testing, compared to standard testing alone.

Design: A cost-effectiveness analysis combining costs, outcomes, parent and professional interview and professional survey data.

Early Outcomes for Management of Atrioventricular Septal Defect-Tetralogy of Fallot in the Last Decade: A Congenital Heart Surgeons' Society Study.

Background: We sought to determine the management and early outcomes of complete atrioventricular septal defect-tetralogy of Fallot (AVSD-TOF) for a contemporary multicenter cohort.

Methods: Of 739 participants in the Congenital Heart Surgeons' Society AVSD cohort (January 2012-May 2021), 40 had AVSD-TOF. We first compared survival differences for patients with AVSD-TOF versus those with isolated AVSD using propensity matching.

Providing personalised care for people with tuberculosis: an evaluation of enhanced case management in a UK TB Network 2013 to 2021.

Objectives: Evaluating the outcomes of enhanced case management (ECM) for patients with tuberculosis (TB) in the North Central London TB Service (NCLTBS).

Design: Retrospective cohort study.

Setting: The NCLTBS provides care for persons diagnosed with TB across north and central London.

A spatial human thymus cell atlas mapped to a continuous tissue axis.

T cells develop from circulating precursor cells, which enter the thymus and migrate through specialized subcompartments that support their maturation and selection. In humans, this process starts in early fetal development and is highly active until thymic involution in adolescence. To map the microanatomical underpinnings of this process in pre- and early postnatal stages, we established a quantitative morphological framework for the thymus-the Cortico-Medullary Axis-and used it to perform a spatially resolved analysis.

Recognising uncertainty: an integrated framework for palliative care in perinatal medicine.

In perinatal medicine, the number of babies with life-limiting or life-threatening conditions is increasing and the benefits of providing palliative care with a holistic, interdisciplinary approach are well documented. It can be particularly challenging, however, to integrate palliative care into routine care where there exists uncertainty about a baby's diagnosis or potential outcome.This framework, developed collaboratively by the British Association of Perinatal Medicine (BAPM) and the Association of Paediatric Palliative Medicine (APPM), offers supportive guidance for all healthcare professionals working in perinatal medicine across antenatal and neonatal services.

Quantified small bowel motility assessment on magnetic resonance enterography in paediatric inflammatory bowel disease - does it reflect clinical response?

Background: Quantified small bowel motility assessment using cine magnetic resonance enterography (MRE) has shown promise as a biomarker in adult inflammatory bowel disease. Whether quantified motility corresponds to treatment response in paediatric inflammatory bowel disease is unknown.

Objective: To test whether changes in motility reflect response.

Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency.

The importance of calcium (Ca2+) as a second messenger in T cell signaling is exemplified by genetic deficiencies of STIM1 and ORAI1, which abolish store-operated Ca2+ entry (SOCE) resulting in combined immunodeficiency (CID). We report five unrelated patients with de novo missense variants in ITPR3, encoding a subunit of the inositol 1,4,5-trisphosphate receptor (IP3R), which forms a Ca2+ channel in the endoplasmic reticulum (ER) membrane responsible for the release of ER Ca2+ required to trigger SOCE, and for Ca2+ transfer to other organelles. The patients presented with CID, abnormal T cell Ca2+ homeostasis, incompletely penetrant ectodermal dysplasia, and multisystem disease.

Pediatric to Adult Transition in Solid Organ Transplant Recipients: A Systematic Review of Existing Transition Programs.

Background: Pediatric organ transplantation is the primary treatment for end-organ failure. Improving medication adherence and healthcare compliance can decrease healthcare burdens, graft rejection, morbidity, and mortality. Adolescents commonly struggle with non-adherence, necessitating a smooth transition to adult care.

Mental healthcare in paediatric epilepsy clinics: implementation by non-mental health professionals.

Objectives: Research has shown that children with epilepsy often experience mental health disorders but face barriers to effective care. One solution is to train healthcare professionals within paediatric epilepsy services to deliver psychological interventions. The aim of this paper was to examine aspects of treatment integrity of the 'Mental Health Interventions for Children with Epilepsy' (MICE) treatment, a modular cognitive behavioural therapy intervention for anxiety, depression and behavioural difficulties in childhood epilepsy.

Neonatal Seizures: New Evidence, Classification, and Guidelines.

Neonates are susceptible to seizures due to their unique physiology and combination of risks associated with gestation, delivery, and the immediate postnatal period. Advances in neonatal care have improved outcomes for some of our most fragile patients, but there are persistent challenges for epileptologists in identifying neonatal seizures, diagnosing etiologies, and providing the most appropriate care, with an ultimate goal to maximize patient outcomes. In just the last few years, there have been critical advances in the state of the science, as well as new evidence-based guidelines for diagnosis, classification, and treatment of neonatal seizures.

: an underestimated pathogen in brain infection?

is an oral commensal organism belonging to the group (SAG). causes periodontitis as well as invasive, pyogenic infection of the central nervous system, pleural space or liver. Compared with other SAG organisms, has a higher mortality as well as a predilection for intracranial infection, suggesting it is likely to possess virulence factors that mediate specific interactions with the host resulting in bacteria reaching the brain.

Hypothalamic obesity: from basic mechanisms to clinical perspectives.

Despite the diverse nature of obesity, there is compelling genetic, clinical, and experimental evidence that endorses the important contribution of brain circuits to this condition. The hypothalamus contains major regulatory circuits for bodyweight homoeostasis, the deregulation of which can lead to obesity. Although functional perturbation of hypothalamic pathways could lie at the basis of common forms of obesity, the term hypothalamic obesity has been created to define those rare forms of severe obesity where a clear hypothalamic substrate can be identified, either of genetic or acquired origin.

Outcomes of X-Linked Agammaglobulinaemia Patients.

Background: X-linked agammaglobulinaemia (XLA), caused by mutations in BTK, is characterised by low or absent peripheral CD19 + B lymphocytes and agammaglobulinaemia. The mainstay of treatment consists of immunoglobulin replacement therapy (IgRT). As this cannot fully compensate for the immune defects in XLA, patients may therefore continue to be at risk of complications.

The experiences of visually impaired military veterans with Charles Bonnet syndrome.

Background: Charles Bonnet syndrome (CBS) refers to the experience of visual hallucinations occurring secondary to sight loss. Although there is an increasing amount of research on this phenomenon, CBS remains a lesser-known outcome of visual impairment, with limited research into the impact on the patient.

Objectives: To explore the experiences and opinions of visually impaired military veterans with CBS regarding the impact of visual hallucinations.