BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.

An increasing number of individuals with intellectual developmental disorder (IDD) and heterozygous variants in BCL11A are identified, yet our knowledge of manifestations and mutational spectrum is lacking. To address this, we performed detailed analysis of 42 individuals with BCL11A-related IDD (BCL11A-IDD, a.k.

Recognition of Hyperinsulinaemic Hypoglycaemia in Infants with Congenital Central Hypoventilation Syndrome.

Introduction: Congenital central hypoventilation syndrome (CCHS) is a rare autosomal dominant condition due to mutations in the transcription factor PHOX2B. It is characterized by alveolar hypoventilation with symptoms of autonomic nervous system dysfunction. Hyperinsulinaemic hypoglycaemia (HH) due to glucose dysregulation caused by anomalous insulin secretion has been reported as a feature of CCHS.

Response assessment in pediatric neurooncology (RAPNO) criteria revisited: a practical navigation guide for neuroradiologists.

The Response Assessment in Pediatric Neuro-Oncology (RAPNO) Working Group is an international, collaborative network of experts dedicated to pediatric central nervous system (CNS) tumors that was created in 2011. Since then, six RAPNO articles with imaging guidelines for response assessment in diverse pediatric tumor subgroups have been published, namely: 1) medulloblastomas and leptomeningeal seeding tumors (2018), 2) pediatric high-grade gliomas (2020), 3) pediatric low-grade gliomas (2020), 4) diffuse intrinsic pontine gliomas (2020), 5) pediatric intracranial ependymomas (2022) and 6) pediatric craniopharyngiomas (2023). The purpose of this article is to review all current available RAPNO criteria using a systematized and comparative approach centered on the role of neuroradiologists and supported by neuroimaging examples.

Integrating standard epilepsy protocol, ASL-perfusion, MP2RAGE/EDGE and the MELD-FCD classifier in the detection of subtle epileptogenic lesions: a 3 Tesla MRI pilot study.

Background: Malformations of cortical development (MCDs) in children with focal epilepsy pose significant diagnostic challenges, and a precise radiological diagnosis is crucial for surgical planning. New MRI sequences and the use of artificial intelligence (AI) algorithms are considered very promising in this regard, yet studies evaluating the relative contribution of each diagnostic technique are lacking.

Methods: The study was conducted using a dedicated "EPI-MCD MR protocol" with a 3 Tesla MRI scanner in patients with focal epilepsy and previously negative MRI.

International expert consensus statement on the diagnosis and management of congenital nephrogenic diabetes insipidus (arginine vasopressin resistance).

Congenital nephrogenic diabetes insipidus (NDI; also known as arginine vasopressin resistance) is a rare inherited disorder of water homeostasis, caused by insensitivity of the distal nephron to arginine vasopressin. Consequently, the kidney loses its ability to concentrate urine, which leads to polyuria, polydipsia and the risk of hypertonic dehydration. The diagnosis and management of NDI are very challenging and require an integrated, multidisciplinary approach.

Advanced three-dimensional X-ray imaging unravels structural development of the human thymus compartments.

Background: The thymus, responsible for T cell-mediated adaptive immune system, has a structural and functional complexity that is not yet fully understood. Until now, thymic anatomy has been studied using histological thin sections or confocal microscopy 3D reconstruction, necessarily for limited volumes.

Methods: We used Phase Contrast X-Ray Computed Tomography to address the lack of whole-organ volumetric information on the microarchitecture of its structural components.

Optimising Paediatric HIV Treatment: Recent Developments and Future Directions.

Treatment options for children living with HIV have historically been less effective, less practical and more difficult to implement compared with those for adults, as the research and development of new drugs for children has lagged behind. Significant progress has been achieved in response to the paediatric HIV epidemic over the last decade. Several optimised paediatric antiretroviral formulations are currently available or in development, including fixed-dose combination tablets containing a complete World Health Organization-recommended regimen.

Finding NEMO in the thymus.

Rosain et al. (https://doi.org/10.

Intrafamilial Disease Heterogeneity in Primary Hyperoxaluria Type 1.

Introduction: Primary hyperoxaluria type 1 (PH1) is known for its variable clinical course, even within families. However, the extent of this heterogeneity has not been well-studied. We aimed to analyze intrafamilial clinical heterogeneity and disease course among siblings in a large cohort of familial PH1 cases.

Effects of fMRI neurofeedback of right inferior frontal cortex on inhibitory brain activation in children with ADHD.

We aimed to replicate previous effects of functional magnetic resonance imaging neurofeedback (fMRI-NF) in right inferior frontal cortex (rIFC) on IFC activation during a Stop Task in a larger group of boys with attention-deficit/hyperactivity disorder (ADHD). The present double-blind, randomized controlled trial tested the effects of 15 runs of active versus sham fMRI-NF of rIFC on performance and activation associated with successful and failed inhibition versus Go trials during a tracking Stop task in 88 boys with ADHD (44 active; 44 sham), controlling for age and medication status. No significant group-by-time interaction effects were observed for performance or brain activation during the successful stop trials, and post hoc analysis showed very low numbers of active fMRI-NF learners.

Promoting the advancement of otology and audiology: a history of the Thomas Wickham-Jones (TWJ) Foundation.

Objectives: For 50 years, the Thomas Wickham-Jones (TWJ) Foundation has promoted the advancement of otology and audiology in the UK and Republic of Ireland through a series of overseas Fellowships and other grants.

Methods: The paper examines the history of the Foundation since its establishment in 1974, drawing upon the Foundation's archives and personal recollections. The analysis is located within a framework concerning the factors that shape the success or failure of a foundation including vision, strategy, information, leadership and finance.

Trends in Pediatric Hospital Admissions Caused or Contributed by SARS-CoV-2 Infection in England.

Objective: To investigate the changing characteristics of SARS-CoV-2-related pediatric hospital admissions over time.

Study Design: This was a national, observational cohort study from July 1, 2020, to August 31, 2023, using English population-linked electronic health records. We identified 45 203 children younger than 18 years old in whom SARS-CoV-2 either caused or contributed to hospitalization, excluding those admitted with "incidental" infection.

The expanding field of genetic developmental and epileptic encephalopathies: current understanding and future perspectives.

Recent advances in genetic testing technologies have revolutionised the identification of genetic abnormalities in early onset developmental and epileptic encephalopathies (DEEs). In this Review, we provide an update on the expanding landscape of genetic factors contributing to DEEs, encompassing over 800 reported genes. We focus on the cellular and molecular mechanisms driving epileptogenesis, with an emphasis on emerging therapeutic strategies and effective treatment options.

Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature.

Background And Objectives: Developmental and epileptic encephalopathy 56 (DEE-56) is caused by pathogenic variants in YWHAG and is characterized by early-onset epilepsy and neurodevelopmental delay. This study reports on a cohort of DEE-56 individuals, correlating antiseizure medication usage and comorbidities, to aid in understanding disease evolution.

Methods: We analyzed data from thirty-nine individuals aged 3-40 years with YWHAG variants, including 12 previously unreported individuals (2 of these with recurrent distal 7q11.

Ultrasound for infantile midgut malrotation: Techniques, pearls, and pitfalls.

Midgut malrotation with volvulus is a surgical emergency with potentially devastating outcomes which include short gut syndrome necessitating long-term parenteral nutrition, overwhelming sepsis, and death. The clinical presentation is most frequently with bilious vomiting in the first days-weeks of life, which is non-specific and common. Timely imaging investigation is therefore crucial to prevent delays to diagnosis and treatment and avoid unnecessary surgical exploration in infants with non-surgical bilious vomiting.

Hope pluralism in antenatal palliative care.

When parents face the distressing news during pregnancy that their baby is affected by a serious medical condition that will likely lead to the baby's death before or soon after birth, they experience a range of complex emotions. Perhaps paradoxically, one common response is that of hope. Navigating such hope in antenatal interactions with parents can be difficult for healthcare professionals.

Advances in magnetic resonance imaging for the assessment of paediatric focal epilepsy: a narrative review.

Background And Objective: Epilepsy affects approximately 50 million people worldwide, with 30-40% of patients not responding to medication, necessitating alternative therapies such as surgical intervention. However, the accurate localization of epileptogenic lesions, particularly in pediatric magnetic resonance imaging (MRI)-negative drug-resistant epilepsy, remains a challenge. This paper reviews advanced neuroimaging techniques aimed at improving the detection of such lesions to enhance surgical outcomes.

The IBEX Knowledge-Base: Achieving more together with open science.

Iterative Bleaching Extends multipleXity (IBEX) is a versatile method for highly multiplexed imaging of diverse tissues. Based on open science principles, we created the IBEX Knowledge-Base, a resource for reagents, protocols and more, to empower innovation.