Incidence and risk factors of graft failure in allogeneic hematopoietic stem cell transplantation for mucopolysaccharidosis in a nationwide pediatric cohort. A study on behalf of the Francophone Society of Bone Marrow Transplantation and Cellular Therapy.

Context: Mucopolysaccharidosis (MPS) requires urgent treatment to prevent neurological damage. While gene therapy holds promise for effectively treating these diseases with minimal toxicity, access remains limited for most patients. Consequently, advancing allogeneic hematopoietic stem cell transplantation (HSCT) for young children is crucial.

Pilot study protocol evaluating the impact of telerobotics interactions with autistic children during a Denver intervention on communication skills using single-case experimental design.

Introduction: For several years, studies have been conducted on the contribution of social robots as an intervention tool for children with autism spectrum disorder (ASD). One of the early intervention models recommended by the French National Authority for Health is the Early Start Denver Model, an individualised, intensive programme based on play activities chosen by the child. While studies published in recent years suggest that robots provide benefits for autistic children in learning social interactions within a clinical setting, there is no scientific consensus on the widespread contribution and maintenance of their effects over time.

Impact of a bundle of care (intravenous iron, erythropoietin and transfusion metabolic adjustment) on post-operative transfusion incidence in cardiac surgery: a single-centre, randomised, open-label, parallel-group controlled pilot trial.

Background: Red blood cell (RBC) transfusions are frequent in patients after cardiac surgery. This study assessed whether a bundle of care including pre-operative and post-operative administration of erythropoietin (EPO) with intravenous iron supplementation, and restrictive transfusion adjusted for ScvO could result in reduced postoperative transfusions.

Methods: In this single-centre, randomised, open-label, parallel-group controlled pilot study, patients undergoing elective cardiac surgery with high risk of transfusion in a University Hospital were enrolled by the investigator and the randomisation procedure using a central internet-based system was made by the clinical research assistant.

An e-Learning Course to Train General Practitioners in Planetary Health: Pilot Intervention Study.

Background: According to the World Health Organization, climate and ecological emergencies are already major threats to human health. Unabated climate change will cause 3.4 million deaths per year by the end of the century, and health-related deaths in the population aged ≥65 years will increase by 1540%.

Infantile-onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!

We present the phenotype of an infant with the largest ATN1 CAG expansion reported to date (98 repeats). He presented at 4 months with developmental delay, poor eye contact, acquired microcephaly, failure to thrive. He progressively developed dystonia-parkinsonism with paroxysmal oromandibular and limbs dyskinesia and fatal outcome at 17 months.

Links between gender norms and the intergenerational transmission of health information in parents carrying BRCA1/2 pathogenic variants.

Understanding how gender norms affect parents' communication of genetic and cancer risk information to their children can enable healthcare professionals to better facilitate cascade genetic testing. We conducted a qualitative study with semi-structured interviews to determine social factors associated with parents carrying the BRCA1/2 pathogenic variants who communicated cancer prevention practices to their children. Thirty adult carriers (23 women, 7 men) participated in the interviews.

Evaluation of the Effectiveness of Therapy for Anxiety in Williams Beuren Syndrome Using a Smartphone App: Protocol for a Single-Case Experiment.

Background: Williams syndrome (WS-OMIM 194050, orphaned number: Orpha 904) is a rare condition mostly associated with intellectual disability. People with Williams syndrome are 8 times more likely to have anxiety disorders than the general population. Therapeutic solutions to treat the anxiety remain limited, particularly nonpharmacological therapy.

Impact of continuous hypertonic (NaCl 20%) saline solution on renal outcomes after traumatic brain injury (TBI): a post hoc analysis of the COBI trial.

Background: To evaluate if the increase in chloride intake during a continuous infusion of 20% hypertonic saline solution (HSS) is associated with an increase in the incidence of acute kidney injury (AKI) compared to standard of care in traumatic brain injury patients.

Methods: In this post hoc analysis of the COBI trial, 370 patients admitted for a moderate-to-severe TBI in the 9 participating ICUs were enrolled. The intervention consisted in a continuous infusion of HSS to maintain a blood sodium level between 150 and 155 mmol/L for at least 48 h.

Cost-Effectiveness Analysis of Sequential Treatment Strategies for Advanced Melanoma in Real Life in France.

Nine drugs have been marketed for 10 years for the treatment of advanced melanoma (AM). With half of patients reaching a second line, the optimal sequence of treatments remains unclear. To inform policy-makers about their efficiency, we performed a cost-effectiveness analysis of sequential strategies in clinical practice in France, for BRAF-mutated and wild-type patients.

Assessment of the hypervascularized fraction of glioblastomas using a volume analysis of dynamic susceptibility contrast-enhanced MRI may help to identify pseudoprogression.

Purpose: Although perfusion magnetic resonance imaging (MRI) is widely used to identify pseudoprogression, this advanced technique lacks clinical reliability. Our aim was to develop a parameter assessing the hypervascularized fraction of glioblastomas based on volume analysis of dynamic susceptibility contrast-enhanced MRI and evaluate its performance in the diagnosis of pseudoprogression.

Methods: Patients with primary glioblastoma showing lesion progression on the first follow-up MRI after chemoradiotherapy were enrolled retrospectively.

RFC1 nonsense and frameshift variants cause CANVAS: clues for an unsolved pathophysiology.

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is an inherited late-onset neurological disease caused by bi-allelic AAGGG pentanucleotide expansions within intron 2 of RFC1. Despite extensive studies, the pathophysiological mechanism of these intronic expansions remains elusive. We screened by clinical exome sequencing two unrelated patients presenting with late-onset ataxia.

Oral Kaposi Sarcoma in two patients living with HIV despite sustained viral suppression: New clues.

Kaposi sarcoma (KS) etiologically linked to Kaposi sarcoma-associated herpesvirus (KSHV) is the most common HIV associated cancer despite the generalization of antiretroviral therapy. Head, neck, and especially oral cavity are common and specific sites for lesions. Those oral lesions contain a high viral load of KSHV virus and are one of the signs of disease severity.

An international survey to explore outcome measures in chronic oedema and lymphoedema.

There is a lack of agreement on treatment outcomes for chronic oedema and lymphoedema. The International Lymphoedema Framework (ILF) is undertaking a project to understand this. An international survey using a range of methods was developed and deployed through SurveyMonkey and social media.

An international study to explore the challenges faced by the medical device industry in the development of compression products and reimbursement.

Lack of agreement over the international classification for compression therapy contributes to confusion over what measures are required to capture patient-reported and cost-effective outcomes of compression therapy for the heterogenous patient population. The medical device industry that manufactures compression products has important insights into these iissues, which have not been previously explored. This knowledge could provide clarity for improving the development of compression products and use of outcome measures internationally, which could improve access and uptake of compression.

Medical check-up of newly arrived unaccompanied minors: A dedicated pediatric consultation service in a hospital.

Background And Aims: Healthcare for the increasing number of migrants in Europe, and particularly of unaccompanied minors (UMs) seeking asylum, has become a major challenge. We aimed to describe the health issues of UMs managed in a dedicated pediatric consultation service in a care center in Paris.

Methods: All UMs attending a dedicated migrant medical consultation service in Robert Debré Hospital, Paris, France, were included in a single-center retrospective observational study from September 1, 2017, to September 30, 2018.

Gut-derived acetate promotes B10 cells with antiinflammatory effects.

Autoimmune diseases are characterized by a breakdown of immune tolerance partly due to environmental factors. The short-chain fatty acid acetate, derived mostly from gut microbial fermentation of dietary fiber, promotes antiinflammatory Tregs and protects mice from type 1 diabetes, colitis, and allergies. Here, we show that the effects of acetate extend to another important immune subset involved in tolerance, the IL-10-producing regulatory B cells (B10 cells).

Conditional Probability of Survival and Prognostic Factors in Long-Term Survivors of High-Grade Serous Ovarian Cancer.

High-grade serous ovarian cancers (HGSOC) are heterogeneous, often diagnosed at an advanced stage, and associated with poor overall survival (OS, 39% at five years). There are few data about the prognostic factors of late relapses in HGSOC patients who survived ≥five years, long-term survivors (LTS). The aim of our study is to assess the probability of survival according to the already survived time from diagnosis.

Melanocortin-1 receptor (MC1R) genotypes do not correlate with size in two cohorts of medium-to-giant congenital melanocytic nevi.

Congenital melanocytic nevi (CMN) are cutaneous malformations whose prevalence is inversely correlated with projected adult size. CMN are caused by somatic mutations, but epidemiological studies suggest that germline genetic factors may influence CMN development. In CMN patients from the U.