Clinical and biochemical footprints of inherited metabolic diseases: XVII. Dysmorphisms.

Dysmorphisms, or physical abnormalities in appearance, can vary in frequency and severity among individuals with inherited metabolic disorders (IMD). The prevalence of dysmorphisms in these disorders can range from rare occurrences to more common features, depending on the specific disorder and its genetic characteristics. It is important to note that not all individuals with IMDs will exhibit dysmorphic features, and the presence of such features may vary widely among different types of metabolic disorders.

RORA-neurodevelopmental disorder: a unique triad of developmental disability, cerebellar anomalies, and myoclonic seizures.

Purpose: RORA encodes the RAR-related orphan receptor-α (RORα), playing a pivotal role in cerebellar maturation and function. Here, we report the largest series of individuals with RORA-related-neurodevelopmental disorder (RORA-NDD).

Methods: Forty individuals (30 unrelated; 10 siblings from 4 families) carrying RORA pathogenic/likely pathogenic variants were collected through an international collaboration.

Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).

The Houge type of X-linked syndromic intellectual developmental disorder (MRXSHG) encompasses a spectrum of neurodevelopmental disorders characterized by intellectual disability (ID), language/speech delay, attention issues, and epilepsy. These conditions arise from hemizygous or heterozygous deletions, along with point mutations, affecting CNKSR2, a gene located at Xp22.12.

Does the role of family meetings important at the end-of-life? A retrospective national study in Taiwan.

Background: Numerous studies have pointed out the benefits of family meetings, but it is unclear who uses family meetings and what the effects are on use of the end-of-life care.

Aim: The purposes of this study were to explore which characteristics are associated with the use of the family meeting and what effects the family meeting has on end-of-life care.

Design: A retrospective observational study using 2012-2017 data from Taiwan's National Health Insurance claims database, cancer registry, and death registry.

Opinion of Polish doctors on the use of futile therapy.

The discontinuation of futile therapy is increasingly discussed in Polish clinical practice. Given the need to ensure patient well-being, it is essential to consider whether all clinical options resulting from medical progress should be used for every patient and on what grounds decisions to limit therapy should be based. The aim of our study was to determine the opinions of Polish medical doctors on this topic.

Disparities in Diabetes Technology Uptake in Youth and Young Adults With Type 1 Diabetes: A Global Perspective.

Globally, nearly 9 million people are living with type 1 diabetes (T1D). Although the incidence of T1D is not affected by socioeconomic status, the development of complications and limited access to modern therapy is overrepresented in vulnerable populations. Diabetes technology, specifically continuous glucose monitoring and automated insulin delivery systems, are considered the gold standard for management of T1D, yet access to these technologies varies widely across countries and regions, and varies widely even within high-income countries.

Prevalence, management, health-care burden, and 90-day outcomes of prolonged mechanical ventilation in the paediatric intensive care unit (LongVentKids): an international, prospective, cross-sectional cohort study.

Background: The number of children requiring prolonged mechanical ventilation (PMV) has increased with the advancement of medical care. We aimed to estimate the prevalence of PMV worldwide, document demographic and clinical characteristics of children requiring PMV in paediatric intensive care units (PICUs), and to understand variation in clinical practice and health-care burden.

Methods: This international, multicentre, cross-sectional cohort study screened participating PICUs in 28 countries for children aged >37 postgestational weeks to 17 years who had been receiving mechanical ventilation (MV; invasive or non-invasive) for at least 14 consecutive days.

Subsequent Thyroid Carcinomas in Children and Adolescents Registered in the German MET Consortium (1997-2023).

Among childhood cancer survivors, the cumulative incidence rate of differentiated thyroid carcinomas (DTCs) is estimated to be 8-11%. Although the association of DTC with prior radiotherapy is well-studied, the association with chemotherapy remains less understood. Most studies focused on young adults, leaving a knowledge gap on subsequent DTC occurring in childhood and adolescence.

SGLT2-Inhibition in Patients With Alport Syndrome.

Introduction: Large-scale trials showed positive outcomes of sodium-glucose cotransporter-2 inhibitors (SGLT2i) in adults with chronic kidney disease (CKD). Whether the use of SGLT2i is safe and effective in patients with the common hereditary CKD Alport syndrome (AS) has not yet been investigated specifically in larger cohorts.

Methods: This observational, multicenter, international study (NCT02378805) assessed 112 patients with AS after start of SGLT2i.

The potential mechanisms underlying phthalate-induced hypospadias: a systematic review of rodent model studies.

Objectives: Maternal exposure to environmental endocrine disruptors, such as phthalates, during pregnancy is a significant risk factor for the development of hypospadias. By consolidating existing research on the mechanisms by which phthalates induce hypospadias in rodent models, this systematic review aims to organize and analyze the discovered mechanisms and their potential connections.

Methods: The study involved all articles that explored the mechanisms of phthalate-induced hypospadias using rodent models.

Pharmacometabolomics via real-time breath analysis captures metabotypes of asthmatic children associated with salbutamol responsiveness.

Asthma is a widespread respiratory disease affecting millions of children. Salbutamol is a well-established bronchodilator available to treat asthma. However, response to bronchodilators is very heterogeneous, particularly in children.

Characteristics, opportunities, and challenges of osteopathy (COCO) in the perceptions of osteopaths in Germany, Austria, and Switzerland: a metasynthesis.

Background: The practice of osteopathy in Europe is not uniformly regulated. Even despite the topographical and cultural proximity, the regulation of the osteopathic profession also differs in the German-speaking countries. In contrast to Germany and Austria, both without any recognized osteopathic profession, Switzerland has already created legal regulations for the practice of osteopathy.

An unusual case of type I hyperlipidemia - infant with acute encephalopathy, bulging fontanel, vomiting and pink blood: a case report.

Background: Familial chylomicronemia syndrome (FCS) is a rare genetic disorder with heterogeneous presentation, where acute encephalopathy is rarely described in literature. Therefore, initial neurologic symptoms could make the diagnosis and treatment challenging.

Case Presentation: A four-month-old male infant presented with acute encephalopathy, vomiting, bulging fontanel, decreased appetite and failure to thrive.

Pain, dietary habits and physical activity of children with developmental disabilities in Croatia, North Macedonia and Serbia: a cross-sectional study.

Background: Multiple studies have shown that children with developmental disabilities (CDD) often live with unrecognized and untreated pain, consume inadequate diet and have inadequate levels of physical activity. This study aimed to analyze pain, dietary habits and physical activity of CDD in Croatia, North Macedonia and Serbia.

Methods: A cross-sectional study was conducted in Croatia, North Macedonia and Serbia in March-April 2023 within the Erasmus+ SynergyEd project.

Targeted memory reactivation during sleep improves emotional memory modulation following imagery rescripting.

Targeted Memory Reactivation (TMR) during sleep benefits memory integration and consolidation. In this pre-registered study, we investigated the effects of TMR applied during non-rapid eye movement (NREM) sleep following modulation and updating of aversive autobiographical memories using imagery rescripting (ImR). During 2-5 nights postImR, 80 healthy participants were repeatedly presented with either idiosyncratic words from an ImR updated memory during sleep (experimental group) or with no or neutral words (control groups) using a wearable EEG device (Mobile Health Systems Lab-Sleepband, MHSL-SB) [1] implementing a close-loop cueing procedure.

Demography in Swiss paediatric uveitis: a retrospective cohort study.

Introduction: Paediatric uveitis is a rare disease. It can affect any segment and have various etiologies, including infectious, autoimmune, and masquerade diseases. The pupose of this study is to analyse and present the demographic data in paediatric uveitis in a Swiss cohort.

Sticky Polyelectrolyte Shield for Enhancing Biological Half-Life of Growth Factors.

Delivery of secretomes, which includes growth factors, cytokines, and mRNA, is critical in regenerative medicine for cell-to-cell communication. However, the harsh in vivo environment presents significant challenges for secretome delivery. Proteolytic enzymes shorten secretomes' half-lives, and secretomes tend to rapidly diffuse at defect sites.

Recommendations for Transitioning Young People with Primary Immunodeficiency Disorders and Autoinflammatory Diseases to Adult Care.

Purpose: Significant improvements in the prognosis for young patients with Primary Immunodeficiency Diseases (PID) and Autoinflammatory Disorders (AID), which together make up the majority of Inborn Errors of Immunity (IEI), have resulted in the need for optimisation of transition and transfer of care to adult services. Effective transition is crucial to improve health outcomes and treatment compliance among patients. Evaluations of existing transition programmes in European health centres identified the absence of disease-specific transition guidelines for PID and AID, as a challenge to the transition process.

Maintenance therapy with trofosfamide, idarubicin and etoposide in patients with rhabdomyosarcoma and other high-risk soft tissue sarcomas (CWS-2007-HR): a multicentre, open-label, randomised controlled phase 3 trial.

Background: Rhabdomyosarcoma and other soft tissue sarcomas (STS) with high-risk features are still associated with an unsatisfactory outcome. We evaluated the efficacy of oral maintenance therapy added at the end of standard therapy in patients with high-risk rhabdomyosarcoma and STS.

Methods: CWS-2007-HR was a multicentre, open-label, randomised controlled, phase 3 trial done at 87 centers in 5 countries.

Association of blood inflammatory phenotypes and asthma burden in children with moderate-to-severe asthma.

Background: Underlying immunological mechanisms in children with moderate-to-severe asthma are complex and unclear. We aimed to investigate the association between blood inflammatory parameters and asthma burden in children with moderate-to-severe asthma.

Methods: Blood inflammatory parameters (eosinophil and neutrophil counts and inflammatory mediators using multiplex immunoassay technology) were measured in children (6-17 years) with moderate-to-severe asthma from the SysPharmPediA cohort across four European countries.

Biological Markers of Myeloproliferative Neoplasms in Children, Adolescents and Young Adults.

Myeloproliferative neoplasms (MPNs) are clonal hematopoietic cancers characterized by hyperproliferation of the myeloid lineages. These clonal marrow disorders are extremely rare in pediatric patients. MPN is reported to occur 100 times more frequently in adults, and thus research is primarily focused on this patient group.