Cortically Based Brain Tumors in Children: A Decision-Tree Approach in the Radiology Reading Room.

Cortically based brain tumors in children constitute a unique set of tumors with variably aggressive biologic behavior. Because radiologists play an integral role on the multidisciplinary medical team, a clinically useful and easy-to-follow flow chart for the differential diagnoses of these complex brain tumors is essential. This proposed algorithm tree provides the latest insights into the typical imaging characteristics and epidemiologic data that differentiate the tumor entities, taking into perspective the 2021 World Health Organization's classification and highlighting classic as well as newly identified pathologic subtypes by using current molecular understanding.

Experimental Induction of Complex Gastroschisis in the Fetal Lamb: Systematic Review.

We systematically reviewed experiments in the fetal lamb model of gastroschisis using PubMed, Embase, Web of Science, and Scopus, seeking for standardized surgical techniques to obtain complex gastroschisis. Eligible were studies where an abdominal wall defect was surgically induced and gross anatomical findings at birth were available. The primary outcome was complex gastroschisis, defined by the presence of bowel stenosis, atresia, volvulus, perforation, and/or necrosis.

Single-cell transcriptomics identifies aberrant glomerular angiogenic signalling in the early stages of WT1 kidney disease.

WT1 encodes a podocyte transcription factor whose variants can cause an untreatable glomerular disease in early childhood. Although WT1 regulates many podocyte genes, it is poorly understood which of them are initiators in disease and how they subsequently influence other cell-types in the glomerulus. We hypothesised that this could be resolved using single-cell RNA sequencing (scRNA-seq) and ligand-receptor analysis to profile glomerular cell-cell communication during the early stages of disease in mice harbouring an orthologous human mutation in WT1 (Wt1).

Epilepsies.

Recent advances in genetic diagnosis have revealed the underlying etiology of many epilepsies and have identified pathogenic, causative variants in numerous ion and ligand-gated channel genes. This chapter describes the clinical presentations of epilepsy associated with different channelopathies including classic electroclinical syndromes and emerging gene-specific phenotypes. Also discussed are the archetypal epilepsy channelopathy, SCN1A-Dravet syndrome, considering the expanding phenotype.

Examining change in the mental health of young people with epilepsy following a successful psychological intervention.

Objective: Evaluate the cognitive, behavioural and affective processes involved in therapeutic change for young people with epilepsy and mental health difficulties receiving an integrated mental health intervention.

Methods: As part of a mixed methods convergent design, qualitative data were gathered in parallel to quantitative data at two timepoints in a randomised controlled trial testing the Mental Health Intervention for Children with Epilepsy in addition to usual care. Twenty-five young people and/or their families were interviewed before and after the intervention about the young person's mental and physical health, and their experience of therapy.

Comparing physiological impacts of positive pressure ventilation versus self-breathing via a versatile cardiopulmonary model incorporating a novel alveoli opening mechanism.

Mathematical models can be used to generate high-fidelity simulations of the cardiopulmonary system. Such models, when applied to real patients, can provide valuable insights into underlying physiological processes that are hard for clinicians to observe directly. In this work, we propose a novel modelling strategy capable of generating scenario-specific cardiopulmonary simulations to replicate the vital physiological signals clinicians use to determine the state of a patient.

Daratumumab in pediatric relapsed/refractory acute lymphoblastic leukemia or lymphoblastic lymphoma: the DELPHINUS study.

Patients with relapsed/refractory acute lymphoblastic leukemia (ALL) or lymphoblastic lymphoma (LL) have poor outcomes compared with newly diagnosed, treatment-naïve patients. The phase 2, open-label DELPHINUS study evaluated daratumumab (16 mg/kg IV) plus backbone chemotherapy in children with relapsed/refractory B-cell ALL (n = 7) after ≥2 relapses, and children and young adults with T-cell ALL (children, n = 24; young adults, n = 5) or LL (n = 10) after first relapse. The primary end point was complete response (CR) in the B-cell ALL (end of cycle 2) and T-cell ALL (end of cycle 1) cohorts, after which patients could proceed off study to allogeneic hematopoietic stem cell transplant (HSCT).

The aortic root, do we see the 'hole' picture?

The aortic root is the segment of the aorta between the left ventricular outflow tract and the sinotubular junction of the ascending aorta, and, on one level, is merely a tube, with a valve at its base, dynamic structures below it, and notable for having the life-limiting coronary arteries originate within its sinuses. However, we propose that the perception of the aortic root has been historically grossly over-simplified by virtue of a bias towards its internal aspect, in terms of coronary ostia and subvalvar relationships through the fibrous skeleton and in so-doing a myocardial component on the external aspect has all but been ignored. This myocardial mass, a component of the left ventricular free wall, is sometimes termed the 'left ostial process' but appears to be rarely, if ever, considered by anatomists, cardiologists, and surgeons alike.

Nice to know 2: The impact of NICE guidelines on ketogenic diet services in the UK and Ireland - An update.

Background: Ketogenic diet therapy (KDT) has been recommended as a treatment for drug-resistant epilepsy in children and young people since 2012 in the National Institute for Health and Care Excellence Clinical Guidelines for Epilepsies. The Ketogenic Dietitians Research Network completed a survey in 2017 to assess the impact of these guidelines.

Methods: An online survey was circulated to ketogenic dietitians across the UK and Ireland.

Gut microbiota and intestinal rehabilitation: a prospective childhood cohort longitudinal study of short bowel syndrome (the MIRACLS study): study protocol.

Introduction: Short bowel syndrome (SBS) is the predominant cause of paediatric intestinal failure. Although life-saving, parenteral nutrition (PN) is linked to complications and may impact quality of life (QoL). Most children will experience intestinal rehabilitation (IR), but the mechanisms underpinning this remain to be understood.

Individuals and Families Affected by RYR1-Related Diseases: The Patient/Caregiver Perspective.

Background And Objective: Pathogenic variants of RYR1, the gene encoding the principal sarcoplasmic reticulum calcium release channel (RyR1) with a crucial role in excitation-contraction coupling, are among the most common genetic causes of non-dystrophic neuromuscular disorders. We recently conducted a questionnaire study focusing on functional impairments, fatigue, and quality of life (QoL) in patients with RYR1-related diseases (RYR1-RD) throughout the recognized disease spectrum. In this previous questionnaire study the medical perspective was taken, reflective of a study protocol designed by neurologists and psychologists.

International consensus statement on the diagnosis and management of phaeochromocytoma and paraganglioma in children and adolescents.

Phaeochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumours that arise not only in adulthood but also in childhood and adolescence. Up to 70-80% of childhood PPGL are hereditary, accounting for a higher incidence of metastatic and/or multifocal PPGL in paediatric patients than in adult patients. Key differences in the tumour biology and management, together with rare disease incidence and therapeutic challenges in paediatric compared with adult patients, mandate close expert cross-disciplinary teamwork.

Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical Development.

Background And Purpose: Sotos syndrome is a rare autosomal dominant condition caused by pathogenic mutations in the gene that presents with craniofacial dysmorphism, overgrowth, seizures, and neurodevelopmental delay. Macrocephaly, ventriculomegaly, and corpus callosal dysmorphism are typical neuroimaging features that have been described in the medical literature. The purpose of this study was to expand on the neuroimaging phenotype by detailed analysis of a large cohort of patients with genetically proved Sotos syndrome.

Causes of sudden unexpected death in infants with and without pre-existing conditions: a retrospective autopsy study.

Objective: We investigated sudden unexpected death in infancy (SUDI) autopsy data from 1996 to 2015 inclusive, comparing findings from infants with and without pre-existing medical conditions.

Design: Large, retrospective single-centre autopsy series.

Setting: Tertiary paediatric hospital, London, UK.

Ambient lighting alters pattern electroretinogram P50 peak time and spatial sensitivity.

Purpose: Our aim was to explore the effect of ambient lighting on the pattern ERG (PERG).

Methods: We compared PERGs recorded in two conditions; room lights on and room lights off. PERGs from 21 adult participants were recorded from each eye to high contrast checks of 50' side width, reversing 3rps in a large (30°) and then standard (15°) field.

Rasmussen's encephalitis: structural, functional, and clinical correlates of contralesional epileptiform activity.

Progressive inflammation of one hemisphere characterises Rasmussen's encephalitis (RE), but contralesional epileptiform activity has been repeatedly reported. We aimed to quantify contralesional epileptiform activity in RE and uncover its functional and structural underpinnings. We retrospectively ascertained people with RE treated between 2000 and 2018 at a tertiary centre (Centre 1) and reviewed all available EEG datasets.

Evaluation of adapted parent training for challenging behaviour in pre-school children with moderate to severe intellectual developmental disabilities: A randomised controlled trial.

Objectives: There is limited evidence on the effectiveness of parenting interventions to improve disruptive behaviour in children with intellectual developmental disabilities. This clinical trial evaluated whether an adapted group parenting intervention for preschool children with intellectual developmental disabilities who display challenging behaviour is superior to treatment as usual in England.

Study Design: 261 children aged 30-59 months with moderate to severe intellectual developmental disabilities and challenging behaviour were randomised to either the intervention (Stepping Stones Triple P) and treatment as usual or treatment as usual alone.

Recurrent adamantinomatous craniopharyngiomas show MAPK pathway activation, clonal evolution and rare TP53-loss-mediated malignant progression.

The two types of craniopharyngioma, adamantinomatous (ACP) and papillary (PCP), are clinically relevant tumours in children and adults. Although the biology of primary craniopharyngioma is starting to be unravelled, little is known about the biology of recurrence. To fill this gap in knowledge, we have analysed through methylation array, RNA sequencing and pERK1/2 immunohistochemistry a cohort of paired primary and recurrent samples (32 samples from 14 cases of ACP and 4 cases of PCP).

Patient, Parental, and Health Professional Perspectives on Growth in Children With CKD.

Rationale & Objective: Growth failure is a common problem among children with chronic kidney disease (CKD). Reduced height is associated with psychosocial burden, social stigma, and impaired quality of life. This study describes the aspects of growth impairment that are most impactful from the perspectives of children with CKD, their parents, and health professionals.