Evolution of Movement Disorders in Patients With CLN2-Batten Disease Treated With Enzyme Replacement Therapy.

Objectives: Neuronal ceroid lipofuscinosis type 2 (CLN2-disease) is an inherited childhood-onset neurodegenerative condition, with classical early features of speech delay, epilepsy, myoclonus, ataxia, and motor regression. This study aimed to better characterize the spectrum of movement disorders in CLN2-disease in a cohort of children receiving enzyme replacement therapy (ERT).

Methods: A cohort of 18 children attending a single center for treatment with cerliponase alfa ERT was systematically assessed using a standardized structured history and a double-scored, video-recorded examination using the Unified Batten Disease Rating Scale (UBDRS) and Abnormal Involuntary Movement Scale.

Paediatric antiretroviral therapy challenges with emerging integrase resistance.

Purpose Of Review: Universal antiretroviral (ART) coverage and virological suppression are fundamental to ending AIDS in children by 2030. Availability of new paediatric dolutegravir (DTG)-based ART formulations is a major breakthrough and will undoubtedly help achieve this goal, but treatment challenges still remain.

Recent Findings: Paediatric formulations remain limited compared to those for adults, especially for young children, those unable to tolerate DTG or with DTG-based first-line ART failure.

Mental health clinical pathways for children and young people with long-term health conditions: A systematic review.

Rationale: Clinical pathways (CPWs) are structured care plans that set out essential steps in the care of patients with a specific clinical problem. Amidst calls for the prioritisation of integrated mental and physical health care for young people, multidisciplinary CPWs have been proposed as a step towards closer integration. There is very limited evidence around CPWs for young people with mental and physical health needs, necessitating a review of the literature.

Health-related quality of life following aortopexy for tracheomalacia: a cross-sectional study.

Objectives: The objective was to measure health-related quality of life (HRQoL) of children following treatment of all-cause tracheomalacia with aortopexy.

Methods: Children ≥5 years and parents of children <18 years who had undergone aortopexy completed the Paediatric Quality of Life Inventory (PedsQL4.0).

Effects of ganaxolone on non-seizure outcomes in CDKL5 Deficiency Disorder: Double-blind placebo-controlled randomized trial.

CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy. Ganaxolone, a neuroactive steroid, reduces the frequency of major motor seizures in children with CDD. This analysis explored the effect of ganaxolone on non-seizure outcomes.

A one-step method for generating antimicrobial nanofibre meshes coaxial electrospinning.

Respiratory diseases, including influenza, infectious pneumonia, and severe acute respiratory syndrome (SARS), are a leading cause of morbidity and mortality worldwide. The recent COVID-19 pandemic claimed over 6.9 million lives globally.

Cardiotrophin-1 therapy reduces disease severity in a murine model of glomerular disease.

Cardiotrophin-1 (CT-1), a member of the interleukin (IL)-6 cytokine family, has renoprotective effects in mouse models of acute kidney disease and tubulointerstitial fibrosis, but its role in glomerular disease is unknown. To address this, we used the mouse model of nephrotoxic nephritis to test the hypothesis that CT-1 also has a protective role in immune-mediated glomerular disease. Using immunohistochemistry and analysis of single-cell RNA-sequencing data of isolated glomeruli, we demonstrate that CT-1 is expressed in the glomerulus in male mice, predominantly in parietal epithelial cells and is downregulated in mice with nephrotoxic nephritis.

Symptoms and management of cow's milk allergy: perception and evidence.

Introduction: The diagnosis and management of cow's milk allergy (CMA) is a topic of debate and controversy. Our aim was to compare the opinions of expert groups from the Middle East ( = 14) and the European Society of Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) ( = 13).

Methods: These Expert groups voted on statements that were developed by the ESPGHAN group and published in a recent position paper.

CIAO1 loss of function causes a neuromuscular disorder with compromise of nucleocytoplasmic Fe-S enzymes.

Cytoplasmic and nuclear iron-sulfur (Fe-S) enzymes that are essential for genome maintenance and replication depend on the cytoplasmic Fe-S assembly (CIA) machinery for cluster acquisition. The core of the CIA machinery consists of a complex of CIAO1, MMS19 and FAM96B. The physiological consequences of loss of function in the components of the CIA pathway have thus far remained uncharacterized.

Design and validation of a GMP stem cell manufacturing protocol for MPSII hematopoietic stem cell gene therapy.

Hematopoietic stem cell gene therapy (HSCGT) is a promising therapeutic strategy for the treatment of neurodegenerative, metabolic disorders. The approach involves the introduction of a missing gene into patients' own stem cells via lentiviral-mediated transduction (TD). Once transplanted back into a fully conditioned patient, these genetically modified HSCs can repopulate the blood system and produce the functional protein, previously absent or non-functional in the patient, which can then cross-correct other affected cells in somatic organs and the central nervous system.

Parental verbal communication and modeling behavior during mealtimes shape offspring eating behavior - A systematic review with a focus on clinical implications for eating disorders.

Objective: The aim of this review is to provide an overview of parental communication patterns during mealtimes, with a special emphasis being placed on the differences between families with and without a history of eating disorders.

Methods: The systematic review was conducted according to the PRISMA statement. A systematic literature search was carried out in PubMed, PubPsych and PsycINFO and the results were assessed for eligibility by two independent raters using the PICOS criteria.

Artificial intelligence (AI) implementation within the National Health Service (NHS): the South West London AI Working Group experience.

In the rapidly evolving field of artificial intelligence (AI) for radiology, with a plethora of vendor options and use-cases and evidence claims to sift through, the pressing question is how to effectively implement the right tool for enhanced patient care? This article presents a structured approach to AI deployment, drawing from a comprehensive case study in South West London. We underscore the necessity of forming a dedicated AI team with a clear vision and assertive leadership to navigate such complexities. Central to our discussion is the significance of crafting an AI implementation plan, with an overarching aim to augment patient care, promote operational efficiency, and lay down standardized protocols for seamless AI adoption.

Changes in abilities over the initial 12 months of nusinersen treatment for type II SMA.

Several studies have shown the efficacy of new disease-modifying therapies in slowing down type II SMA progression using the Hammersmith Functional Motor Scale Expanded (HFMSE). This research aims to enhance understanding of activity changes across age groups post-nusinersen treatment using shift analysis, compared with untreated individuals. Retrospective data from the, international SMA consortium (iSMAc) dataset were analyzed, assessing individual item changes over 12 months.

Isolated cerebellar stroke in a paediatric patient with typical haemolytic uraemic syndrome: a case report and literature review.

Haemolytic Uraemic Syndrome (HUS) is a rare medical condition characterised by microangiopathic haemolytic anaemia, thrombocytopenia, and acute kidney injury. Neurological complications are documented but rarely involve the cerebellum. We present a unique case of a 23-month-old male with HUS triggered by Escherichia coli-O157 (E.

The pharmacokinetic differences between 10- and 15-μg daily vitamin D doses.

Aims: The reference nutrient intake for vitamin D in people aged ≥4 years is 10 μg/day (400 IU/day) in the UK, but the recommended daily allowance is 15 μg/day (600 IU/day) for people aged 1-70 years in the USA. Here, we aim to compare the 25-hydroxyvitamin D (25(OH)D) serum concentration profiles between the 2 doses.

Methods: With world-wide trial data of adults aged ≥18 years, 45-93 kg, we constructed a minimal physiologically based pharmacokinetics model of serum concentrations of vitamin D and 25(OH)D using nonlinear mixed effects modelling.

Training and supervision of physical health professionals to implement mental health care in paediatric epilepsy clinics.

Background: Children and young people with epilepsy are more likely to experience multiple mental health problems than those without chronic physical health conditions, yet they often do not receive evidence-based (or indeed any) psychological interventions. Integrated healthcare is recommended as a solution to address these inequalities, but remains limited in the United Kingdom. This is partly due to the lack of training and availability of ongoing supervision for clinicians to ensure the safe and effective delivery of treatments.

Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiences.

Introduction: In October 2020, rapid prenatal exome sequencing (pES) was introduced into routine National Health Service (NHS) care in England, requiring the coordination of care from specialist genetics, fetal medicine (FM) and laboratory services. This mixed methods study explored the experiences of professionals involved in delivering the pES service during the first 2 years of its delivery in the NHS.

Methods: A survey ( = 159) and semi-structured interviews ( = 63) with healthcare professionals, including clinical geneticists, FM specialists, and clinical scientists (interviews only) were used to address: 1) Views on the pES service; 2) Capacity and resources involved in offering pES; 3) Awareness, knowledge, and educational needs; and 4) Ambitions and goals for the future.

Using diffusion MRI to understand white matter damage and the link between brain microstructure and cognitive deficits in paediatric medulloblastoma patients.

Purpose: Survivors of medulloblastoma face a range of challenges after treatment, involving behavioural, cognitive, language and motor skills. Post-treatment outcomes are associated with structural changes within the brain resulting from both the tumour and the treatment. Diffusion magnetic resonance imaging (MRI) has been used to investigate the microstructure of the brain.