A milder form of NSRP1-associated neurodevelopmental disorder, caused by a missense variant in the nuclear localization signal.

Nuclear Speckle Splicing Regulator Protein 1 (NSRP1) is a splice factor found in nuclear speckles, which are small membrane-free organelles implicated in epigenetic regulation, chromatin organization, DNA repair, and RNA modification. Bi-allelic loss-of-function variants in NSRP1 have recently been identified in patients suffering from a severe neurodevelopmental disorder, presenting with neurodevelopmental delay, epilepsy, microcephaly, hypotonia, and spastic cerebral palsy. Described patients acquired neither independent walking nor speech and often showed anomalies on cerebral MRI.

Helicobacter pylori infection found during upper endoscopy performed for the diagnosis of celiac, inflammatory bowel diseases, and eosinophilic esophagitis: A multicenter pediatric European study.

Background: Helicobacter pylori may be found during upper gastrointestinal endoscopy (UGE) performed to diagnose celiac disease (CeD), inflammatory bowel disease (IBD), and eosinophilic esophagitis (EoE). We aimed to describe the frequency of H. pylori in children undergoing UGE for CeD, IBD, and EoE and the number of children receiving eradication treatment.

Use of virtual reality in children in a broad range of medical settings: a systematic narrative review of recent meta-analyses.

Virtual reality (VR) is an emerging method that can be used in many scenarios involving children. VR has been increasingly studied as it has become cheaper, more widely available, and of better quality. In this review of current meta-analyses on the use of VR in children in the medical setting, we examined its role in 5 broad settings where it is used to alleviate pain and anxiety as well as in therapeutic scenarios.

SARS-CoV-2 Infection in Children Less Than Forty Days Hospitalized in Belgium Between 2020 and 2022.

Our study aimed to assess the severity of severe acute respiratory syndrome coronavirus 2 infection in hospitalized infants under 40 days old, across 21 Belgian hospitals between 2020 and 2022. Of the 365 infants studied, 14.2% needed respiratory support.

Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b.

Empagliflozin has been successfully repurposed for treating neutropenia and neutrophil dysfunction in patients with glycogen storage disease type 1b (GSD 1b), however, data in infants are missing. We report on efficacy and safety of empagliflozin in infants with GSD 1b. This is an international retrospective case series on 21 GSD 1b infants treated with empagliflozin (total treatment time 20.

STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179.

Thyrotropin (TSH) is the master regulator of thyroid gland growth and function. Resistance to TSH (RTSH) describes conditions with reduced sensitivity to TSH. Dominantly inherited RTSH has been linked to a locus on chromosome 15q, but its genetic basis has remained elusive.

The use of shear-wave elastography for the assessment of muscle spasticity in patients with cerebral palsy, a systematic review.

We explore the use of shear wave elastography (SWE) for assessing muscle stiffness and treatment response in cerebral palsy (CP) children by way of a systematic review. SWE offers real-time muscle stiffness measurements, showing significant differences between CP patients and controls. Studies suggest that SWE can be used to follow muscle stiffness post-botulinum toxin treatment, correlating with clinical improvement.

Assessing the Swallowing Function in Children with Spinal Muscular Atrophy: An Easily Accessible and Objective Multidimensional Approach.

Background: Spinal muscular atrophy (SMA), a genetic neuromuscular disease caused by lack of survival of motor neuron (SMN) protein, is characterized by muscular atrophy and respiratory and bulbar dysfunction. While swallowing disorders are common, they remain poorly studied.

Objectives: Our study aimed to explore 1) intraoral pressure measurements with the Iowa Oral Performance Instrument system and the reliability of a Swallowing Function Assessment Questionnaire (SFAQ) in healthy controls, and 2) evaluate their use as swallowing function biomarkers and the evolution of swallowing function over time in children with SMA.

Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.

Background: Based on a limited number of reported families, biallelic CA8 variants have currently been associated with a recessive neurological disorder named, cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 (CAMRQ-3).

Objectives: We aim to comprehensively investigate CA8-related disorders (CA8-RD) by reviewing existing literature and exploring neurological, neuroradiological, and molecular observations in a cohort of newly identified patients.

Methods: We analyzed the phenotype of 27 affected individuals from 14 families with biallelic CA8 variants (including data from 15 newly identified patients from eight families), ages 4 to 35 years.

Fertility and sexual activity in patients with Triple A syndrome.

Objective: Triple A syndrome, caused by autosomal recessively inherited mutations in the gene is characterized by alacrima, achalasia, adrenal insufficiency, and neurological impairment. To the best of our knowledge, no patients of both sexes have been reported to have offspring. Our aim was to assess the causes of infertility in male patients with this multisystemic syndrome, and to present a female patient that spontaneously conceived a child.

Reappraisal of prognostic factors used in the European Pediatric Soft Tissue Sarcoma Study Group RMS 2005 study for localized rhabdomyosarcoma to optimize risk stratification and generate a prognostic nomogram.

Background: The objective of this study was to investigate the role of clinical factors together with FOXO1 fusion status in patients with nonmetastatic rhabdomyosarcoma (RMS) to develop a predictive model for event-free survival and provide a rationale for risk stratification in future trials.

Methods: The authors used data from patients enrolled in the European Pediatric Soft Tissue Sarcoma Study Group (EpSSG) RMS 2005 study (EpSSG RMS 2005; EudraCT number 2005-000217-35). The following baseline variables were considered for the multivariable model: age at diagnosis, sex, histology, primary tumor site, Intergroup Rhabdomyosarcoma Studies group, tumor size, nodal status, and FOXO1 fusion status.

The sternoclavicular ganglion cyst, a rare pediatric diagnosis.

We briefly describe the case of a 4-year-old girl, referred for imaging of a small, firm, round, skin-colored, subcutaneous nodule that suddenly appeared at her right sternoclavicular junction. A plain radiograph was non-contributory, but ultrasonography revealed a small cystic structure, leading to the diagnosis of a sternoclavicular ganglion cyst. Sternoclavicular ganglion cysts are a rare diagnosis, with only seven reported pediatric cases.

van Neck-Odelberg disease: a common but poorly known and often misdiagnosed condition.

van Neck-Odelberg disease, a condition involving the ischiopubic synchondrosis in children, is a commonly encountered but poorly known ailment, which is now considered a normal variant. Symptoms can include pain, discomfort, and fever, leading to van Neck-Odelberg disease often being discovered in the context of patients presenting with non-specific clinical manifestations. In this essay, we describe what is currently known about van Neck-Odelberg disease and illustrate the condition using images acquired from multiple patients, with some using multiple imaging techniques from the same patients.

Pilot study on the use of basophil activation tests and skin tests for the prevention of allergic transfusion reactions.

Background And Objectives: Management of severe allergic transfusion reactions (ATR) is challenging. In this study, we investigate the usefulness of skin tests and basophil activation tests (BAT) in chronically transfused patients for the prevention of future ATR.

Materials And Methods: BAT and skin tests were carried with the supernatant of red blood cell (RBC) units for a sickle-cell disease patient under chronic exchange transfusion who has presented a severe ATR, in order to prevent potential future ATR.

Intravenous maintenance fluid therapy in acutely and critically ill children: state of the evidence.

Intravenous maintenance fluid therapy (IV-MFT) is one of the most prescribed, yet one of the least studied, interventions in paediatric acute and critical care settings. IV-MFT is not typically treated in the same way as drugs with specific indications, contraindications, compositions, and associated adverse effects. In the last decade, societies in both paediatric and adult medicine have issued evidence-based practice guidelines for the use of intravenous fluids in clinical practice.

Neonatal Limb Compartment Syndrome: A Comprehensive Review.

Purpose: Neonatal limb compartment syndrome (NLCS) is a rare and potentially limb-threatening condition defined as an increased pressure within a confined limb compartment. Clinicians may fail to distinguish NLCS from other mimicking conditions. Misdiagnosis is possible due to a low index of suspicion for this condition, which may delay appropriate and urgent treatment.

Eradication Rate Using Stool Antigen Test in Vietnamese Children: A Prospective Multicenter Study.

Objectives: This study assessed the diagnostic value of a monoclonal immunoassay stool antigen test (HpSA) for ) infection and the eradication outcomes.

Methods: Children undergoing digestive endoscopy at 2 Children's Hospitals in Ho Chi Minh City were recruited. Treatment was offered to -infected children.

HLA haplotype frequencies and diversity in patients with hemoglobinopathies.

The genetic diversity of the human leukocyte antigen (HLA) system was shaped by evolutionary constraints exerted by environmental factors. Analyzing HLA diversity may allow understanding of the underlying pathways and offer useful tools in transplant setting. The aim of this study was to investigate the HLA haplotype diversity in patients with sickle cell disease (SCD,  = 282) or β-thalassemia (β-Thal,  = 60), who received hematopoietic cell transplantation (HCT) reported to Eurocord and the Société Francophone de Greffe de Moelle et de Thérapie Cellulaire (SFGM-TC).

Another Way to Perform a Pediatric MRI Avoiding Sedation After Hours When Anesthesia Is Less Accessible: The Skin-to-Skin Technique.

This innovative system for conducting pediatric MRI describes a method of calming children by allowing them to rest on their accompanying adult's abdomen during the examination. This approach reduces their agitation, enabling the acquisition of diagnostic images when anesthesia is either unavailable or not advisable.