Hip displacement in children with cerebral palsy: surveillance to surgery - a current concepts review.

This review brings together a multidisciplinary, multinational team of experts to discuss the current state of knowledge in the detection and treatment of hip displacement in cerebral palsy (CP), a global public health problem with a high disease burden. Though common themes are pervasive, different views are also represented, reflecting the confluence of traditional thinking regarding the aetiology and treatment of hip displacement in CP with emerging research that challenges these tried-and-true principles. The development of hip displacement is most closely related to gross motor function, with radiographic surveillance programs based on the Gross Motor Function Classification System (GMFCS), the goal being early detection and timely treatment.

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).

Association of paediatric autoimmune cytopenia and inflammatory bowel disease suggests a common genetic origin.

The association of autoimmune cytopenia (AIC) and inflammatory bowel disease (IBD) has been reported in small series, but the incidence of and risk factors for IBD in children with AIC are not known. One thousand six hundred nine children with chronic immune thrombocytopenic purpura, autoimmune haemolytic anaemia or Evans syndrome from the prospective OBS'CEREVANCE cohort are included in this study. Overall, 15 children were diagnosed with IBD, including 14 who developed IBD after AIC diagnosis (median delay: 21 months).

Intravenous lidocaine for postoperative analgesia management in paediatrics: A systematic review with meta-analysis of published studies.

Background: The administration of intravenous lidocaine during the peri-operative period may improve pain management after paediatric surgery.

Objective: To explore the decrease in postoperative pain intensity and opioid consumption associated with peri-operative lidocaine administration in the paediatric population.

Design: A systematic review with meta-analysis of randomised controlled trials and a Grading of Recommendations Assessment, Development and Evaluation (GRADE) analysis.

A tool for Dravet syndrome-associated neuropsychiatric comorbidities evaluation (DANCE).

Background: Dravet syndrome (DS) is a rare and severe form of epilepsy that begins in infancy, which is primarily caused by pathogenic variants in the SCN1A gene. DS is characterized by prolonged and frequent drug-resistant seizures, as well as developmental delays and behavioral problems. The identification of these comorbidities is based on clinical interview and relies on healthcare professionals (HCPs) experience.

The Etiology of Neuromuscular Hip Dysplasia and Implications for Management: A Narrative Review.

This study summarizes the current knowledge of the etiology of hip dysplasia in children with neuromuscular disease and the implications for management. This article is based on a review of development of the hip joint from embryology through childhood growth. This knowledge is then applied to selective case reviews to show how the understanding of these developmental principles can be used to plan specific treatments.

WONOEP appraisal: Modeling early onset epilepsies.

Epilepsy has a peak incidence during the neonatal to early childhood period. These early onset epilepsies may be severe conditions frequently associated with comorbidities such as developmental deficits and intellectual disability and, in a significant percentage of patients, may be medication-resistant. The use of adult rodent models in the exploration of mechanisms and treatments for early life epilepsies is challenging, as it ignores significant age-specific developmental differences.

Evaluation of the transition program at the University Hospital of Reims from 2015 to 2020.

The transition of young type 1 diabetic (T1D) patients from pediatric to adult healthcare is a high-risk period of loss to follow-up. Since 2015, we have implemented a transition program, involving both pediatric and adult clinicians. The main objective was to evaluate the number of patients who had succeeded this transition program at 1 year.

Hydroxyurea in Sickle Cell Disease and Invasive Bacterial Infections: A Case-Control Study.

Hydroxyurea decreases painful events among children with sickle cell disease (SCD) but could increase the risk of infections in treated patients through leucopenia. We performed a case-control study, comparing hydroxyurea treatment for SCD in cases with an invasive bacterial infection and in controls without infection. No difference was found.

Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe).

In biomedical research, particularly for rare diseases (RDs), there is a critical need for model organisms to unravel the mechanistic basis of diseases, perform biomarker studies and develop potential therapeutic interventions. Within Solve-RD, an EU-funded research project with the aim of solving large numbers of previously unsolved RDs, the European Rare Disease Models & Mechanisms Network (RDMM-Europe) has been established.

Genito-urinary Reconstruction in Female Children With Congenital Adrenal Hyperplasia: Favorable Surgical Outcomes can be Achieved by Contemporary Techniques and a Dedicated Multidisciplinary Management.

Introduction: Congenital adrenal hyperplasia (CAH) is the most common cause of genital atypia in females. A dedicated multidisciplinary team (MDT) should be included for an optimal management. Here, we aimed to review our surgical experience and to assess long-term urinary, gynecological and endocrine outcomes after primary genitoplasty in this specific cohort.

Salvage strategy for long-term central venous catheter-associated Staphylococcus aureus infections in children: a multi-centre retrospective study in France.

Objectives: Catheter removal is recommended in adults with Staphylococcus aureus central-line-associated bloodstream infection (CLABSI) but is controversial in children with long-term central venous catheters (LTCVC). We evaluated the occurrence of catheter salvage strategy (CSS) in children with S. aureus LTCVC-associated CLABSI and assessed determinants of CSS failure.

Compliance with antibiotic therapy guidelines in french paediatric intensive care units: a multicentre observational study.

Background: Bacterial infections (BIs) are widespread in ICUs. The aims of this study were to assess compliance with antibiotic recommendations and factors associated with non-compliance.

Methods: We conducted an observational study in eight French Paediatric and Neonatal ICUs with an antimicrobial stewardship programme (ASP) organised once a week for the most part.

The expanding clinical and genetic spectrum of DYNC1H1-related disorders.

Intracellular trafficking involves an intricate machinery of motor complexes including the dynein complex to shuttle cargo for autophagolysosomal degradation. Deficiency in dynein axonemal chains as well as cytoplasmic light and intermediate chains have been linked with ciliary dyskinesia and skeletal dysplasia. The cytoplasmic dynein 1 heavy chain protein (DYNC1H1) serves as a core complex for retrograde trafficking in neuronal axons.

WONOEP 2022: Neurotechnology for the diagnosis of epilepsy.

Epilepsy's myriad causes and clinical presentations ensure that accurate diagnoses and targeted treatments remain a challenge. Advanced neurotechnologies are needed to better characterize individual patients across multiple modalities and analytical techniques. At the XVIth Workshop on Neurobiology of Epilepsy: Early Onset Epilepsies: Neurobiology and Novel Therapeutic Strategies (WONOEP 2022), the session on "advanced tools" highlighted a range of approaches, from molecular phenotyping of genetic epilepsy models and resected tissue samples to imaging-guided localization of epileptogenic tissue for surgical resection of focal malformations.

Transfontanellar shear wave elastography of the neonatal brain for quantitative evaluation of white matter damage.

Cerebral white matter damage (WMD) is the most frequent brain lesion observed in infants surviving premature birth. Qualitative B-mode cranial ultrasound (cUS) is widely used to assess brain integrity at bedside. Its limitations include lower discriminatory power to predict long-term outcomes compared to magnetic resonance imaging (MRI).

Unravelling the clinical heterogeneity of undefined recurrent fever over time in the European registries on Autoinflammation.

Background: Systemic autoinflammatory disorders (SAIDs) represent a growing spectrum of diseases characterized by dysregulation of the innate immune system. The most common pediatric autoinflammatory fever syndrome, Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis (PFAPA), has well defined clinical diagnostic criteria, but there is a subset of patients who do not meet these criteria and are classified as undefined autoinflammatory diseases (uAID). This project, endorsed by PRES, supported by the EMERGE fellowship program, aimed to analyze the evolution of symptoms in recurrent fevers without molecular diagnosis in the context of undifferentiated AIDs, focusing on PFAPA and syndrome of undifferentiated recurrent fever (SURF), using data from European AID registries.

The double burden of severe mental illness and cancer: a population-based study on colorectal cancer care pathways from screening to end-of-life care.

Aims: Cancer is one of the main causes of death in persons with severe mental illness (SMI). Although their cancer incidence is similar, or sometimes even potentially lower compared to the general population, their cancer mortality remains higher. The role of healthcare provision and care equity in this mortality is increasingly being addressed in research, but available studies are limited in their scope.