Scurvy incidence trend among children hospitalised in France, 2015-2023: a population-based interrupted time-series analysis.

Background: Scurvy, historically rare in-high income countries, has re-emerged as an indicator of socioeconomic and dietary disparities. Limited data exist on scurvy trends among European children, particularly following socioeconomic changes since the COVID-19 pandemic. This study analysed scurvy incidence trends among French children over a nine-year period, examining potential post-pandemic increases.

Impact of the Acti-Pair programme on physical activity in patients with prostate cancer: protocol of the Acti-Pair 2 stepped-wedge cluster randomised trial.

Regular physical activity (PA) reduces morbidity and mortality in prostate cancer. Prescribing PA in cancer is a necessary awareness but is a real challenge in the case of prostate cancer. Motivational peer support seems to be an innovative strategy for lifestyle change.

Supporting the continuous development and use of a patient partnership framework in European rare disease networks (ERNs): a scoping review of frameworks in the scientific literature.

The European Reference Networks (ERNs) for rare and complex diseases offer significant potential for building, maintaining and evaluating patient partnership, for which the recently developed ERN Patient Partnership Framework may serve as guidance. This scoping review aims to identify and describe relevant frameworks published in scientific literature, capturing key learning points to inform future updates of the ERN Patient Partnership Framework and promote its use in practice. MEDLINE, Embase, and the Web of Science Core Collection were searched to identify recently published frameworks (2013-2023) focused on patient partnership and aligned with at least one core ERN activity.

Refining management strategies for Lennox-Gastaut syndrome: Updated algorithms and practical approaches.

Lennox-Gastaut syndrome (LGS) is a severe developmental and epileptic encephalopathy (DEE) characterized by multiple types of drug-resistant seizures (which must include tonic seizures) with classical onset before 8 years (although some cases with later onset have also been described), abnormal electroencephalographic features, and cognitive and behavioral impairments. Management and treatment of LGS are challenging, due to associated comorbidities and the treatment resistance of seizures. A panel of five epileptologists reconvened to provide updated guidance and treatment algorithms for LGS, incorporating recent advancements in antiseizure medications (ASMs) and understanding of DEEs.

Unravelling Education Needs for Clinical Practice Guideline Development: A Survey Performed in the Netherlands.

Objective: The development of clinical practice guidelines (CPG) has evolved into a rigorous and complex process. There is a need for training of CPG developers including methodologists, panel members and patient representatives. This study explored the educational needs and experiences of CPG developers, with specific attention to the patient perspective and economic considerations.

Selective internal radiation therapy across Barcelona Clinic Liver Cancer (BCLC) stages of hepatocellular carcinoma: literature review.

Background And Objective: Selective internal radiation therapy (SIRT) represents an endovascular treatment option for patients with hepatocellular carcinoma (HCC). Its use is widely recognized in the intermediate and advanced HCC, but it has become more prevalent in recent years in different Barcelona Clinic Liver Cancer (BCLC) stages. The aim of this review is to summarize the role of SIRT and its clinical implications through different stages of HCC.

Management of the supposed elbow dislocation in newborns.

Background: The newborn transphyseal fracture of the distal humerus is frequently misdiagnosed with an elbow dislocation due to the absence of the lateral condyle ossification node. No consensus has been reported either for the diagnosis or the management of these rare fractures. This study aimed to analyze a series of newborns with transphyseal distal humerus fractures.

Haematopoietic gene therapy of non-conditioned patients with Fanconi anaemia-A: results from open-label phase 1/2 (FANCOLEN-1) and long-term clinical trials.

Background: Allogeneic haematopoietic stem-cell transplantation is the standard treatment for bone marrow failure (BMF) in patients with Fanconi anaemia, but transplantation-associated complications such as an increased incidence of subsequent cancer are frequent. The aim of this study was to evaluate the safety and efficacy of the infusion of autologous gene-corrected haematopoietic stem cells as an alternative therapy for these patients.

Methods: This was an open-label, investigator-initiated phase 1/2 clinical trial (FANCOLEN-1) and long-term follow-up trial (up to 7 years post-treatment) in Spain.

Contribution of simulation in paediatric laparoscopic surgery: improving suturing skills before performing a laparoscopic procedure in children.

Introduction: Mastering paediatric laparoscopic surgery competency (PLSC) is technically challenging. The present study aimed to determine whether the inter-academic PLSC degree (IAD_PLSC) practical training program enables trainees to improve their skills.

Methods: This retrospective study included trainees enrolled in the IAD_PLSC program in 2021 and 2022 which included two separate 12 h-sessions.

Patients' psychosocial attributes and aggressiveness of cancer treatments near the end of life.

Background: While the use of chemotherapy near the end of life (EOL) has been identified as a relevant criterion for assessing quality of cancer care and has been estimated as non-beneficial, a trend of aggressiveness in cancer care during the last period of life remains. Both patients' sociodemographic characteristics and physicians' practice setting are associated with this use. The role of patients' psychosocial characteristics has however been understudied.

2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency.

Purpose: CTLA4 deficiency is an inborn error of immunity (IEI) due to heterozygosity for germline loss-of-function variants of the CTLA4 gene located on chromosome 2q33.2. CTLA4 deficiency underlies pleiotropic immune and lymphoproliferation-mediated features with incomplete penetrance.

Development and Validation of a Sexual Quality of Life Score for Youths with Inflammatory Bowel Disease.

Background And Aims: Inflammatory Bowel Disease (IBD) are known to impact patients 'sexual lives. The aim of this study is to create and validate a sexual QoL designed for youth with IBD.

Methods: This study was conducted in two phases: development of the score and validation of the items.

Loss of DOT1L function disrupts neuronal transcription, animal behavior, and leads to a novel neurodevelopmental disorder.

Individuals with monoallelic pathogenic variants in the histone lysine methyltransferase DOT1L display global developmental delay and varying congenital anomalies. However, the impact of monoallelic loss of remains unclear. Here, we present a largely female cohort of 11 individuals with variants with developmental delays and dysmorphic facial features.

WONOEP appraisal: Targeted therapy development for early onset epilepsies.

The early onset epilepsies encompass a heterogeneous group of disorders, some of which result in drug-resistant seizures, developmental delay, psychiatric comorbidities, and sudden death. Advancement in the widespread use of targeted gene panels as well as genome and exome sequencing has facilitated the identification of different causative genes in a subset of these patients. The ability to recognize the genetic basis of early onset epilepsies continues to improve, with de novo coding variants accounting for most of the genetic etiologies identified.

Early-onset anorexia nervosa: a scoping review and management guidelines.

Background: Anorexia nervosa (AN) is a serious multifactorial eating disorder characterized by insufficient nutritional intake to maintain a minimum normal weight for one's age and height, a fear of gaining weight and a distorted body image. It affects mainly adolescents, but a decreased age at diagnosis has been reported, leading to the definition of a rare form of AN called early-onset or prepubertal anorexia nervosa (EOAN; ORPHA 525738), with reported epidemiological and clinical specificity. Current knowledge and specific treatments for this particular condition remain scarce.

Longitudinal exposure to antiseizure medications shape gut-derived microbiome, resistome, and metabolome landscape.

The influence of chronically administered host-targeted drugs on the gut microbiome remains less understood compared to antibiotics. We investigated repetitive exposure effects of three common antiseizure medications [carbamazepine (CBZ), valproic acid, and levetiracetam] on the gut microbial composition, resistome, and metabolome using microcosms constructed from feces of young children. Microcosms were established by cultivating feces for 24 h (C0).

Use of 3D Exoscope for Free Flaps Microanastomosis in Head and Neck Reconstruction.

Background: The use of the 3D exoscope in cervicofacial reconstruction has demonstrated its effectiveness, yet few studies have compared its utility to that of the microscope.

Objective: To compare the reliability of microanastomoses performed with both tools, along with postoperative outcomes and user experience.

Patients And Methods: This was a retrospective single-center study that included all cases of microanastomosed forearm or fibula free flap reconstructions performed between June 2019 and June 2022.

A second RUBCN variant associated with epileptic encephalopathy and neurodevelopmental delay.

The RUBCN gene encodes a widely expressed protein called Rubicon, the main function of which is to negatively regulate macroautophagy. A single homozygous pathogenic variant of the RUBCN gene has been reported to date in two unrelated consanguineous Saudi families with spinocerebellar ataxia autosomal recessive 15 (OMIM#613516). This variant is responsible for the deletion of the highly conserved Rubicon Homology (RH) domain, which is important for the colocalization of Rubicon with Rab7 in the late endosome.

Pharmacotherapeutic strategies for drug-resistant epilepsy in children.

Drug resistance is defined as the failure of adequate trials of two tolerated and appropriately chosen antiseizure medications to achieve sustained seizure freedom. In case of uncontrolled seizures, pseudo-drug-resistance (poor compliance, a worsening effect of an antiseizure medication, a diagnosis of psychogenic non-epileptic seizure) should be first ruled out in case of pediatric epilepsies. This paper discusses the process of choosing antiseizure medication and the concepts of rationale polytherapy and precision medicine.

Pediatric Hospitalizations and Emergency Department Visits Related to Mental Health Conditions and Self-Harm.

Importance: Mental disorders among the pediatric population are a major area of public health concern. Little is known regarding changes in pediatric hospital resource use related to mental health (MH) long after the onset of the COVID-19 pandemic in March 2020.

Objective: To assess rates and trends of hospitalizations and emergency department (ED) visits related to MH and self-harm (SH) among children before and during the 3 years following the pandemic onset.