1,716 results match your criteria: "Robert-Debre Hospital[Affiliation]"

Reference values for biochemical tests during pregnancy: analysis of the PRECAREbio Cohort and correlation with precarious status.

J Gynecol Obstet Hum Reprod

July 2024

Department of Obstetrics and Gynecology, Bichat-Beaujon Hospital, University Hospital Department (DHU) Risks in Pregnancy, Paris Diderot University, Paris, France. Electronic address:

Objective: To establish normal current values of various biochemical parameters during pregnancy in the northern area of Paris (France) in a subgroup from the PreCARE cohort and to study their changes according to the term of pregnancy, and to determine the influence of maternal precarity.

Design: The PreCAREbio cohort of pregnant women was defined in the PreCARE study, a multicenter cohort study.

Setting: Participants completed detailed questionnaires at enrolment and immediately postpartum.

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Accessibility and satisfaction's analysis of simulation-based training in surgery for residents and surgical fellows in France.

J Visc Surg

October 2024

Laboratoire d'anatomie fonctionnelle, faculté des sciences de la motricité, route de Lennik, 808, CP 619, 1070 Bruxelles, Belgium; Laboratoire d'anatomie, de biomécanique et d'organogenèse, faculté de médecine, route de Lennik, 808, CP 619, 1070 Bruxelles, Belgium. Electronic address:

Background: In surgery, simulated-based training improves the knowledge and interpersonal skills needed for surgeons to improve their performance and meet the "never the first time on a patient" imperative. The objective is to evaluate the effects of a 2017 reform on surgeon's accessibility to simulation-based training, five years after the implementation of the program, and to gauge surgeon satisfaction.

Methods: A 27-item national online survey was sent to all surgical residents and fellows in the 13 surgical specialties.

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Autism Spectrum Disorder (ASD) is defined by distinctive socio-cognitive behaviors that deviate from typical patterns. Notably, social imitation skills appear to be particularly impacted, manifesting early on in development. This paper compared the behavior and inter-brain dynamics of dyads made up of two typically developing (TD) participants with mixed dyads made up of ASD and TD participants during social imitation tasks.

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The impact of hydroxyurea (HU) on the ovarian reserve of female patients with sickle cell disease (SCD) remains poorly elucidated. Only direct histological analysis of ovarian follicle density can effectively evaluate HU's effect on ovarian reserve. By analyzing digitized slides of ovarian tissue from girls and young women with SCD who underwent ovarian tissue cryopreservation (OTC) before hematological stem cell transplantation, we meticulously counted follicles and categorized them based on their growth stage.

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A large proportion of prescriptions for extensively hydrolyzed cow's milk protein (CMP) in newborns are not based on any scientific data justifying the indication. Many of these prescriptions are old habits or are based on incomplete data. The aim of this article is to analyze these practices and propose recommendations.

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Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.

EBioMedicine

August 2024

Department of Epilepsy Genetics and Personalized Treatment, Danish Epilepsy Centre, Filadelfia (Member of the ERN EpiCARE), Dianalund, Denmark; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark. Electronic address:

Background: Variants in GABRB2, encoding the β2 subunit of the γ-aminobutyric acid type A (GABA) receptor, can result in a diverse range of conditions, ranging from febrile seizures to severe developmental and epileptic encephalopathies. However, the mechanisms underlying the risk of developing milder vs more severe forms of disorder remain unclear. In this study, we conducted a comprehensive genotype-phenotype correlation analysis in a cohort of individuals with GABRB2 variants.

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Article Synopsis
  • The study aimed to assess the long-term effects of using a hybrid closed loop (HCL) system on glucose levels and body mass index (BMI) in children with type 1 diabetes during puberty.* -
  • Over 30 months, data showed that improvements in HbA1c levels were maintained and BMI scores remained stable in participants, with no severe hypoglycemic events and only one unrelated ketoacidosis case.* -
  • Findings suggest that prolonged HCL usage can help manage glucose control during puberty without negatively affecting BMI in children with type 1 diabetes.*
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For most patients with childhood myelodysplastic syndrome (cMDS), allogeneic hematopoietic stem cell transplantation (allo-HSCT) remains the only curative option. In the case of increased blasts (cMDS-IB), the benefit of pretransplant cytoreductive therapy remains controversial. In this multicenter retrospective study, the outcomes of all French children who underwent allo-HSCT for cMDS reported in the SFGM-TC registry between 2000 and 2020 were analyzed ( = 84).

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Epidemiology of childhood interstitial lung disease in France: the RespiRare cohort.

Thorax

August 2024

Paediatric Pulmonology Department and Reference Center for Rare Lung Diseases, RespiRare, Sorbonne University, AP-HP, Armand Trousseau Hospital, Paris, France

Article Synopsis
  • A study examined the prevalence and incidence of interstitial lung disease in children (chILD) in France, finding it affects 44 children per million in 2022 and has an incidence of 4.4 per million.
  • The research included data from 790 patients across 42 centers, noting that the median age for diagnosis was 3 months, with a significant portion having familial forms.
  • Management typically involved oxygen therapy and corticosteroids, with survival rates being 57.3% for children diagnosed before 2 years and 86% for those diagnosed between 2 and 18 years; the study highlights the need for improved international data collection and standardized practices.
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Objectives: The COHQoL is a set of questionnaires used to evaluate the impact of oral health on children's quality of life. Although the CPQ8-10 and the P-CPQ have been translated and validated in French, the CPQ11-14 14 has not yet been validated. The aim was to develop a French version of the CPQ11-14 16-items.

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During SARS-CoV-2 pandemic, the assessment of immune protection of people at risk of severe infection was an important goal. The appearance of VOCs (Variant of Concern) highlighted the limits of evaluating immune protection through the humoral response. While the humoral response partly loses its neutralizing activity, the anti-SARS-CoV-2 memory T cell response strongly cross protects against VOCs becoming an indispensable tool to assess immune protection.

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Article Synopsis
  • Dysmorphologists face challenges due to the diverse phenotypic variability of human faces, particularly when using Next-Generation Phenotyping (NGP) tools, which are often trained on limited data.
  • To address this, the GestaltMatcher Database (GMDB) was created, compiling over 10,980 facial images from various global populations, significantly improving the representation of underrepresented ancestries, especially African and Asian patients.
  • The study found that incorporating data from non-European patients enhanced NGP accuracy by over 11% without compromising performance for European patients, highlighting the importance of diverse datasets in identifying genetic disorders.
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Diagnosis of Post-Hematopoietic Stem Cell Transplantation Bronchiolitis Obliterans Syndrome in Children: Time for a Rethink?

Transplant Cell Ther

August 2024

Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota; Division of Pulmonary Medicine, Masonic Children's Hospital, Minneapolis, Minnesota.

Hematopoietic stem cell transplantation (HSCT) is undertaken in children with the aim of curing a range of malignant and nonmalignant conditions. Unfortunately, pulmonary complications, especially bronchiolitis obliterans syndrome (BOS), are significant sources of morbidity and mortality post-HSCT. Currently, criteria developed by a National Institutes of Health (NIH) working group are used to diagnose BOS in children post-HSCT.

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Cognitive impairment in children and adults with cerebrotendinous xanthomatosis: A French cohort study.

J Inherit Metab Dis

September 2024

Neurology Department, Reference Center for Neurological Metabolic and Lysosomal Diseases, Pitié-Salpêtrière University Hospital, AP-HP Sorbonne University, Paris, France.

Cerebrotendinous xanthomatosis is a rare and treatable metabolic disorder related to the accumulation of cholestanol. This disorder is primarily associated with motor and cognitive impairments, although the latter has not been extensively characterized. The objectives of this work were to define the cognitive profile found in cerebrotendinous xanthomatosis patients, investigate the progression of cognitive impairment over time, and search for radio-clinical correlations.

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Article Synopsis
  • The study refines the prediction of outcomes in T-cell acute lymphoblastic leukemia (T-ALL) using next-generation sequencing (NGS) to identify genetic mutations associated with risk levels.
  • A classifier developed through whole-exome sequencing categorized patients into low-risk and high-risk groups based on specific mutations, revealing significant differences in their 5-year cumulative incidence of relapse (CIR).
  • Integrating this genetic stratification with clinical factors like white blood cell counts and minimal residual disease enhances prognosis and identifies potential patients for targeted therapies.
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Background: Relatives of ADHD probands are known to be at increased risk of schizophrenia and bipolar disorder, suggesting shared genetic factors. In this study, we aim to identify shared common risk variants (i.e.

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Article Synopsis
  • Autism is a common condition influenced by both single gene issues and multiple genes, and many autistic people need better healthcare that genomics can help provide.
  • The European Autism GEnomics Registry (EAGER) aims to collect info about autistic people who have had their entire DNA sequenced to help with future research and trials.
  • EAGER will involve 1,500 participants from 13 places in 8 countries who will share genetic samples and fill out surveys to help researchers understand the link between genetics and health.
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Article Synopsis
  • Donor-derived cell-free DNA (dd-cfDNA) is an innovative noninvasive biomarker being studied for its ability to detect kidney allograft injuries, such as rejection.
  • In a study involving 2,882 kidney transplant recipients, high levels of dd-cfDNA were strongly linked to various types of allograft rejection, and it significantly improved prediction models beyond what's typically used in patient monitoring.
  • The study, which included diverse cohorts, reinforced that measuring dd-cfDNA could enhance the detection of even subtle rejection in stable patients, providing valuable insights for better transplant management.
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Pediatric intensive care unit follow-up: Thinking before acting.

Anaesth Crit Care Pain Med

August 2024

Pediatric Intensive Care Unit, Robert-Debré Hospital, Assistance Publique - Hôpitaux de Paris, Paris, France; Université Paris Cité, Paris, France. Electronic address:

Objective: It is now well established that post-intensive care syndrome is frequent in critically ill children after discharge from the pediatric intensive care unit (PICU). Nevertheless, post-intensive care follow-up is highly heterogenous worldwide and is not considered routine care in many countries. The purpose of this viewpoint was to report the reflections of the French PICU society working group on how to implement post-PICU follow-up.

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Autoantibodies Targeting Nephrin in Podocytopathies.

N Engl J Med

August 2024

From the III. Department of Medicine (F.E.H., S.D., M.L., G.Z., L.S., A.S., O.K., F.G., R.L., L.M.M., E.H., M.M.R., N.M.T., T.B.H.) and the Departments of Medical Biometry and Epidemiology (H.O.P.), Pathology (T.Z., T.W.), Pediatric Nephrology (J.O.), and Obstetrics and Fetal Medicine (A.D.), Hamburg Center for Kidney Health (F.E.H., S.D., M.L., G.Z., L.S., A.S., O.K., F.G., R.L., L.M.M., J.O., E.H., M.M.R., N.M.T., T.B.H.), and the Hamburg Center for Translational Immunology (N.M.T., T.B.H.), University Medical Center Hamburg-Eppendorf, Hamburg, and the Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg (F.S.) - all in Germany; the Department of Biomedicine, Aarhus University, Aarhus, Denmark (F.D., A.M.B., M.M.R.); the Department of Precision and Regenerative Medicine and Ionian Area, Nephrology, Dialysis, and Transplantation Unit, University of Bari Aldo Moro, Bari (A.M., P.P., L.G.), and the Division of Nephrology, Bambino Gesù Children's Hospital, IRCCS, Rome (M.C., F.E., M.V.) - both in Italy; INSERM, Unité Mixte de Recherche S 1155, Sorbonne Université (H.D., P.R.), and the Pediatric Nephrology Department, Robert Debré Hospital, Assistance Publique-Hôpitaux de Paris (C.D., J.H.), Paris, and the Division of Nephrology, Centre Hospitalier du Mans, Le Mans (P.R.) - all in France; the Center for Clinical and Translational Research, Abigail Wexner Research Institute at Nationwide Children's Hospital, and the Department of Pediatrics, Ohio State University College of Medicine - both in Columbus (W.E.S.); the Department of Pathology, Brigham and Women's Hospital, and Harvard Medical School - both in Boston (A.W.); and the Department of Medicine, Johns Hopkins University School of Medicine, Baltimore (N.A.).

Background: Minimal change disease and primary focal segmental glomerulosclerosis in adults, along with idiopathic nephrotic syndrome in children, are immune-mediated podocytopathies that lead to nephrotic syndrome. Autoantibodies targeting nephrin have been found in patients with minimal change disease, but their clinical and pathophysiological roles are unclear.

Methods: We conducted a multicenter study to analyze antinephrin autoantibodies in adults with glomerular diseases, including minimal change disease, focal segmental glomerulosclerosis, membranous nephropathy, IgA nephropathy, antineutrophil cytoplasmic antibody-associated glomerulonephritis, and lupus nephritis, as well as in children with idiopathic nephrotic syndrome and in controls.

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Chung-Jansen syndrome is a neurodevelopmental disorder characterized by intellectual disability, behavioral problems, obesity and dysmorphic features. It is caused by pathogenic variants in the PHIP gene that encodes for the Pleckstrin homology domain-interacting protein, which is part of an epigenetic modifier protein complex. Therefore, we hypothesized that PHIP haploinsufficiency may impact genome-wide DNA methylation (DNAm).

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A new step toward non-genotoxic conditioning prior to hematopoietic stem cell transplantation.

Mol Ther

June 2024

Université Paris Cité, Paris, France; Department of Paediatric Immunology and Haematology, Robert Debré Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France; Institut de Recherche Saint-Louis, INSERM U976, Paris, France.

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Global Sensory Features are Linked to Executive and Attentional Impairments in Autism Spectrum Disorders.

J Autism Dev Disord

May 2024

Department of Child and Adolescent Psychiatry, Robert Debré Hospital, APHP, Paris-Cité University, Paris, France.

Sensory features, executive and attentional impairments are frequently reported in individuals with autism spectrum disorders (ASD). However, little is known about their complex relationships. In this study, we aim to examine the executive and attentional difficulties related to distinct sensory profiles.

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