Long-term effects of sirolimus treatment for slow-flow vascular malformations: Real-world evidence from the French observational multicentre SIROLO study.

Rationale: Sirolimus is a treatment for slow-flow vascular malformations (SFVMs). However, the long-term management remains challenging.

Objectives: The SIROLO study assessed the long-term effects and real-life management of oral sirolimus for SFVMs by investigating data from 15 French tertiary centres for vascular anomalies.

Robustness of radiomics features on 0.35 T magnetic resonance imaging for magnetic resonance-guided radiotherapy.

Background And Purpose: MR-guided radiotherapy adds the precision of magnetic resonance imaging (MRI) to the therapeutic benefits of a linear accelerator. Prior to each therapeutic session, an MRI generates a significant volume of imaging data ripe for analysis. Radiomics stands at the forefront of medical imaging and oncology research, dedicated to mining quantitative imaging attributes to forge predictive models.

Management of patients with diffusion-weighted imaging-negative acute ischemic stroke: Retrospective analysis of 47 consecutive patients.

Background: Few studies with a limited number of patients focused on the outcomes of patients with diffusion-weighted imaging (DWI)-negative acute ischemic stroke (AIS) after intravenous thrombolysis (IVT) and/or endovascular treatment (EVT).

Methods: This retrospective observational, single-center study included all consecutive patients admitted for AIS involving the anterior circulation and treated with IVT and/or EVT between January 1, 2015 and December 31, 2023. The collected data were used to identify the characteristics of patients with negative DWI and to compare outcomes in patients with negative and positive DWI.

Teriflunomide in pediatric patients with relapsing multiple sclerosis: Open-label extension of TERIKIDS.

Background: The double-blind TERIKIDS study demonstrated the efficacy and safety of teriflunomide.

Objective: To evaluate the efficacy, safety, and tolerability of continuous teriflunomide treatment in the TERIKIDS open-label extension.

Methods: In the double-blind period, children with relapsing MS were randomized to placebo or teriflunomide (14 mg adult-equivalent dose) for ⩽ 96 weeks.

Sweet ending: When genetics prevent a dramatic CDG diagnostic mistake.

Herein, we described the case of a newborn male, from consanguineous parents, who developed, at day 11 of life, an obstructive hydrocephalus resulting from bilateral cerebellar hemorrhage without evident cause. Then, at 1 month, he developed a fulminant hepatitis with hyperammonia, hyperlactatemia and metabolic acidosis. Infectious and first line metabolic explorations were normal.

Aspartame and Phenylketonuria: an analysis of the daily phenylalanine intake of aspartame-containing drugs marketed in France.

Background: Phenylketonuria (PKU) is a rare genetic metabolic disorder in which especially high phenylalanine (Phe) concentrations cause brain dysfunction. If untreated, this brain dysfunction results in severe microcephaly, intellectual disability, and behavioral problems. Dietary restriction of Phe is the mainstay of PKU treatment, with long-term successful outcomes.

Long-term follow-up of 64 children with classical infantile-onset Pompe disease since 2004: A French real-life observational study.

Background: Classical infantile-onset Pompe disease (IOPD) is the most severe form of Pompe disease. Enzyme replacement therapy (ERT) has significantly increased survival but only a few studies have reported long-term outcomes.

Methods: We retrospectively analyzed the outcomes of classical IOPD patients diagnosed in France between 2004 and 2020.

2022 French Report Card on Physical Activity and Sedentary Behaviors in Children and Youth: From Continuous Alarming Conclusions to Encouraging Initiatives.

Background: Scientific evidence and public health reports keep highlighting the continuous and alarming worldwide progression of physical inactivity and sedentary behaviors in children and adolescents. The present paper summarizes findings from the 2022 French Report Card (RC) on physical activity for children and youth and compares them to the 2016, 2018, and 2020 RCs.

Methods: The 2022 edition of the French RC follows the standardized methodology established by the Active Healthy Kids Global Matrix.

Lupus anticoagulant laboratory diagnosis by applying the 2020 ISTH-SSC guidelines.

Background: The ISTH-SSC guidelines for lupus anticoagulant (LA) testing recommend using in-house determined cut-off values, pooled normal plasma (PNP) for ratio normalization, and a ratio for the mixing test interpretation. They strongly support the mixing step role in the diagnostic process.

Objectives: To investigate and compare the LA testing results and interpretations obtained following the ISTH-SSC guidelines or the available alternatives.

Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France.

Primary Carnitine Deficiency (PCD) is a fatty acid oxidation disorder that will be included in the expansion of the French newborn screening (NBS) program at the beginning of 2023. This disease is of high complexity to screen, due to its pathophysiology and wide clinical spectrum. To date, few countries screen newborns for PCD and struggle with high false positive rates.

Plasma neurofilament light chain in children with relapsing MS receiving teriflunomide or placebo: A post hoc analysis of the randomized TERIKIDS trial.

Background: The phase 3 TERIKIDS study demonstrated efficacy and manageable safety for teriflunomide versus placebo in children with relapsing multiple sclerosis (RMS).

Objective: Evaluate plasma neurofilament light chain (pNfL) concentrations in TERIKIDS.

Methods: Patients received placebo or teriflunomide (14 mg adult equivalent) for up to 96 weeks in the double-blind (DB) period.

Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients.

Mucopolysaccharidosis type I-H (MPS I-H) is a rare lysosomal storage disorder caused by α-L-Iduronidase deficiency. Early haematopoietic stem cell transplantation (HSCT) is the sole available therapeutic option to preserve neurocognitive functions. We report long-term follow-up (median 9 years, interquartile range 8-16.

Is off-label thrombolysis safe and effective in a real-life primary stroke center? A retrospective analysis of data from a 5-year prospective database.

Background: Intravenous thrombolysis (IVT) use for acute ischemic stroke (AIS) varies among countries, partly due to guidelines and product labeling changes. The study aim was to identify the characteristics of patients with AIS treated with off-label IVT and to determine its safety when performed in a primary stroke center (PSC).

Methods: This observational, single-center study included all consecutive patients admitted to Perpignan PSC for AIS and treated with IVT and patients transferred for EVT, between January 1, 2015 and December 31, 2019.

Individual and Family Determinants for Quality of Life in Parents of Children with Inborn Errors of Metabolism Requiring a Restricted Diet: A Multilevel Analysis Approach.

Objective: The objective of this study was to compare the quality of life (QoL) for parents of children with inborn errors of metabolism (IEMs) requiring a restricted diet with French population norms and investigate parental QoL determinants.

Study Design: This cross-sectional study included mothers and/or fathers of children < 18 years of age affected by IEMs requiring a restricted diet (except phenylketonuria) from January 2015 to December 2017. Parents' QoL was assessed using the World Health Organization Quality of Life BREF questionnaire and compared with age- and sex-matched reference values from the French general population.

Recommended respiratory tests are not routinely performed for mucopolysaccharidosis patients.

https://bit.ly/3G4qp8U.

Assessing Histology Structures by MR Microscopy and Exploring the Link Between MRM-Derived Radiomic Features and Histopathology in Ovarian Cancer.

The value of MR radiomic features at a microscopic scale has not been explored in ovarian cancer. The objective of this study was to probe the associations of MR microscopy (MRM) images and MRM-derived radiomic maps with histopathology in high-grade serous ovarian cancer (HGSOC). Nine peritoneal implants from 9 patients with HGSOC were imaged with MRM using a 9.

Magnetic resonance elastography with guided pressure waves.

Magnetic resonance elastography aims to non-invasively and remotely characterize the mechanical properties of living tissues. To quantitatively and regionally map the shear viscoelastic moduli in vivo, the technique must achieve proper mechanical excitation throughout the targeted tissues. Although it is straightforward, ante manibus, in close organs such as the liver or the breast, which practitioners clinically palpate already, it is somewhat fortunately highly challenging to trick the natural protective barriers of remote organs such as the brain.

Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium.

Background: Enzyme replacement therapy (ERT) with alglucosidase alfa has been found to improve outcomes in patients with classic infantile Pompe disease, who without treatment typically die before the age of 1 year. Variable responses to the standard recommended dosage have led to alternative dosing strategies. We aimed to assess the effect of real-world ERT regimens on survival and walking ability in these patients.

Safety and efficacy of teriflunomide in paediatric multiple sclerosis (TERIKIDS): a multicentre, double-blind, phase 3, randomised, placebo-controlled trial.

Background: Therapeutic options for children with multiple sclerosis are scarce. Teriflunomide is approved in more than 80 countries for the treatment of adults with relapsing multiple sclerosis. The TERIKIDS study examined the safety and efficacy of teriflunomide in children with relapsing multiple sclerosis.

Determinants of Quality of Life in Children with Inborn Errors of Metabolism Receiving a Restricted Diet.

Objective: To investigate the determinants of quality of life (QoL) in children with inborn errors of metabolism with restricted diet (IEMRDs) using a single theory-based multidimensional model.

Study Design: In this multicenter cross-sectional study, data from children aged 8-17 years with IEMRDs (except phenylketonuria) and their parents were collected from January 2015 to December 2017. Measurements included a child's self-reported QoL, self-rated behavioral problems and anxiety, and parental anxiety.

Endovascular treatment for acute ischemic stroke at a primary stroke center: First results of the Perpignan center.

Introduction: Converting a high-volume primary stroke center (PSC) into a stroke center that can perform emergency endovascular treatment (EVT) could reduce the time to thrombectomy. We report the first results of a newly established EVT facility at the Perpignan PSC and their comparison with the targets defined by the established guidelines.

Patients And Method: For this comprehensive observational study, data of patients with acute ischemic stroke (AIS) due to proximal large vessel occlusion (LVO) and treated by EVT at the Perpignan PSC from December 5, 2019 to September 15, 2020 were extracted from an ongoing prospective database.

Impact of the COVID-19 confinement on movement behaviors among French young children: the ONAPS national survey.

Background: The present study examines the effects of the COVID-19 confinement on health-related behaviors (physical activity, sedentary behaviors) of young French children.

Methods: Parents of 348 French children under 6 years of age completed an online survey launched during the first days of the initial COVID-19-related confinement. They were asked to indicate whether their kids increased, decreased or maintained their physical activity level, time spent in sedentary behaviors, and sleep time.