163 results match your criteria: "Raymond-Poincare University Hospital[Affiliation]"
Life-Saving Treatments for Spinal Muscular Atrophy: Global Access and Availability.
Neurol Clin Pract
February 2024
Department of Neurology (VDA, BR), Yale University School of Medicine, New Haven, CT; Department of Neurology (BTD), Boston Children's Hospital, MA; Department of Medicine (AAA), King Saud Bin Abdulaziz University for Health Sciences; Neuromuscular Integrated Practice Unit (AA), Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics (NB), University of Zagreb Medical School, Croatia; Genetics and Genomic Medicine Division (TB-O), Sidra Medicine and Hamad Medical Corporation, Doha, Qatar; Department of Pediatrics (GB), Klinik Favoriten, Vienna, Austria; Department of Pediatrics (CC), Clínica Meds, Santiago, Chile; Department of Medical Genetics and Pediatrics (Y-HC), National Taiwan University Hospital, Taipei; Department of Neurology (MAF), Sydney Children's Hospital Network, New South Wales, Australia; Department of Paediatrics and Child Health (GK), College of Health Sciences, University of Zimbabwe, Harare; Department of Neurology (SK), Bombay Hospital, India; Department of Pediatrics (JM), University of Calgary Cumming School of Medicine, Alberta, Canada; John Walton Muscular Dystrophy Research Centre (CM-B), Newcastle University, Newcastle Upon Tyne, United Kingdom; Department of Child (DO), Adolescent, and Developmental Neurology, Children's Hospital, University Medical Centre Ljubljana, Slovenia; Department of Medical Genetics (GP), University of Calgary Cumming School of Medicine, Alberta, Canada; Neurometabolic Unit (FBP), University of Sao Paulo, Brazil; Department of Pediatrics (IPC), Hospital Universitari i Politècnic La Fe, Valencia, Spain; Child Neurology and ICU Department (SQ-R), Raymond Poincaré University Hospital (UVSQ), Garche, France; Institute of Medical Genetics (KS), Tokyo Women's Medical University, Japan; Department of Neurology (J-HS), Pusan National University Yangsan Hospital, South Korea; Neuromuscular Unit (JFV-C), Hospital Universitario y Politécnico la Fe, Valencia, Spain; Friedrich-Baur-Institute (MCW), Department of Neurology, Ludwig-Maximilians-University of Munich, Germany; Department of Paediatrics (JW), University of Colombo, Sri Lanka; Department of Pediatrics (HX), Peking University First Hospital, China; and Department of Neurology (RCG), University of Rochester Medical Center, NY.
Article Synopsis
- Spinal muscular atrophy (SMA) is a serious neurodegenerative disorder that has seen significant treatment advancements, allowing many patients to lead normal lives, particularly with therapies like Nusinersen, risdiplam, and onasemnogene abeparvovec-xioi now approved.
- A qualitative study surveyed healthcare providers in 21 countries to explore the availability and implementation of SMA treatments, revealing inconsistencies in drug access, newborn screening, and significant economic barriers to care.
- The findings emphasize the global inequalities in SMA management and highlight the need for expanded newborn screening to ensure better treatment access and address future challenges in genetic disease therapies.
New Approaches to Manage Infections in Transplant Recipients: Report From the 2023 GTI (Infection and Transplantation Group) Annual Meeting.
Transpl Int
December 2023
Department of Nephrology, Transplantation, Dialysis and Apheresis, Bordeaux University Hospital, Bordeaux, France.
Long-term prognosis of fatty-acid oxidation disorders in adults: Optimism despite the limited effective therapies available.
Eur J Neurol
February 2024
Neurology Department, Raymond Poincaré University Hospital, Assitance Publique des Hopitaux de Paris, Garches, France.
Article Synopsis
- * The majority of the 44 patients experienced disease onset during childhood, with symptoms including muscle pain, weakness, and frequent episodes of rhabdomyolysis, often leading to significant complications; many patients took years to receive a diagnosis.
- * The study suggests the establishment of a standardized patient registry to better track and evaluate treatment effectiveness and patient outcomes over the long term.
Dalbavancin plasma concentrations in 133 patients: a PK/PD observational study.
J Antimicrob Chemother
December 2023
Nantes Université, CHU Nantes, Service de Pharmacologie Clinique, 9 quai Moncousu 44093, F-44000 Nantes, France.
Objectives: Limited pharmacokinetics data support dalbavancin long-term use in off-label indications and the optimal dosing regimen is debated. We aimed to describe dalbavancin concentrations in an observational retrospective multicentre study.
Methods: Patients from 13 French hospitals, treated with 1500 mg doses of dalbavancin and for whom therapeutic drug monitoring was performed from June 2018 to March 2021 were included.
Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification.
Ann Clin Transl Neurol
November 2023
Department of Paediatrics, MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.
Article Synopsis
- The research aimed to create a structured method for classifying treatments aimed at modifying diseases related to survival motor neuron (SMA).
- The classification system categorizes treatments based on whether they are initial therapies or involve the continuation/discontinuation of further therapies, with specific treatment scenarios identified.
- By applying this classification to 443 patients in the RESTORE registry, the study examined patient demographics and established a framework for analyzing the safety and effectiveness of various treatment combinations in SMA.
Pregnant women with mild COVID-19 followed in community setting by telemedicine, and factors associated with unfavorable outcome.
PLoS One
August 2023
Covidom Regional Telemedicine Platform, APHP, Great Paris area, France.
Objectives: Few is known on pregnant women with mild COVID-19 managed in a community setting with a telemedicine solution, including their outcomes. The objective of this study is to evaluate the adverse fetal outcomes and hospitalization rates of pregnant COVID-19 outpatients who were monitored with the Covidom© telemedicine solution.
Methods: A nested study was conducted on pregnant outpatients with confirmed COVID-19, who were managed with Covidom© between March and November 2020.
Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation.
Orphanet J Rare Dis
July 2023
Neuromuscular Center Nijmegen, Department of Neurology, 910, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
Article Synopsis
- The EUROMAC registry was created to collect data on rare muscle glycogenosis, including GSD5, to aid research and improve understanding of these conditions across Europe and the US.
- A study involving 282 participants revealed that most of them are socially active, with many finding dietary changes helpful; however, they experience significant fatigue and physical limitations.
- Findings suggest that while disabled in some ways, participants maintain a good level of social engagement and that specific diets and regular exercise could help manage symptoms.*
Characteristics of Patients With Late-Onset Pompe Disease in France: Insights From the French Pompe Registry in 2022.
Neurology
August 2023
From the Neurology Department (C.L., N.T., P.L.), Raymond Poincaré University Hospital, Garches, APHP; Nord-Est-Ile-de-France Neuromuscular Reference Center (C.L., C.T., A.B., A.N.-P., M.M., H.P., N.T., A.A., P.L.), FHU PHENIX; Biostatistics Unit (DRCI) (M.D.A.), Clermont-Ferrand University Hospital; Service d'Electroneuromyographie et Pathologies Neuromusculaires (F.B.), Hospices Civils de Lyon; Inserm (C.T.), Lille University Hospital Center, U1172, Lille Neuroscience & Cognition, University of Lille; Centre de Référence des Maladies Neuromusculaires (E.S.-C., S.A.), Hôpital Timone Adultes, Assistance Publique Hôpitaux de Marseille; PACA Réunion Rhône Alpes Reference Center for Neuromuscular Diseases (E.S.-C., S.A.), FILNEMUS; Department of Neurology (E.L.), Grenoble University Hospital; APHP (A.B., A.A.), Service de Neuromyologie, Institut de Myologie, GH Pitié Salpêtrière, Paris; Neuromuscular Reference Center (G.S.), Bordeaux University Hospital (Pellegrin), University of Bordeaux; Neurology Department (J.-B.N.), Neuromuscular Center, CHRU Cavale Blanche, Brest; Peripheral Nervous System and Muscle Department (S.S.), Université Cote d'Azur, CHU de Nice; Centre de Référence des Maladies Neuromusculaires AOC (A.M.), CHU Hôtel Dieu, Nantes; Department of Neurology (A.N.-P.), University Hospital, Strasbourg; Centre de Référence des Maladies Neuromusculaires Rares Rhône-Alpes (A.L.), Hôpital Nord, CHU de Saint-Etienne; ALS Center (S.B.), Francois-Rabelais University, Tours, Centre-Val de Loire; Neuromuscular Reference Center (M.S.), Department of Neurology, University Hospital, Angers; Département de Neurologie (P.C.), Hôpital Purpan, CHU Toulouse; Department of Neurology (D.R.), CHU Nîmes, University of Montpellier, Nîmes; Department of Neurology (M.M.), Nancy University Hospital; Neuromuscular Reference Center (A.-L.B.-M.), Rouen University Hospital; Service de Physiologie et Explorations Fonctionnelles (H.P.), GH Paris Ile de France Ouest, Site Raymond Poincaré, APHP, Garches; U1179 INSERM (H.P., P.L.), Université Versailles Saint Quentin en Yvelines, Paris-Saclay; and Centre Hospitalo-Universitaire de Montpellier (D.H.), Hôpital Arnaud-de-Villeneuve, France.
Article Synopsis
- The French Pompe Disease Registry was established in 2004 to track the progress of the disease in patients and evaluate the long-term effects of enzyme replacement therapy (ERT) with alglucosidase-alfa.
- An update on 210 patients from the registry reveals that the median age of participants was almost 49, with many initially presenting symptoms like muscle weakness and respiratory issues, affecting their mobility significantly.
- The findings indicate that awareness among doctors has improved, leading to earlier diagnoses and a decrease in the severity of cases at the time of inclusion, highlighting the registry's role in understanding and managing Pompe disease effectively.
Real-life impact of respiratory panel PCR assay on antibiotic prescription in geriatric acute care in the pre-COVID-19 era.
Infect Dis Now
October 2023
Infectious Disease Department, Raymond-Poincaré University Hospital, AP-HP Paris Saclay University, Garches, France. Electronic address:
Objectives: In this era of bacterial resistance, avoiding inappropriate use of antibiotic treatments is of major importance. Respiratory tract infections are frequent among older patients, and differentiating viral from bacterial infections is a challenge. The aim of our study was to evaluate the impact of recently available respiratory PCR testing on antimicrobial prescription in geriatric acute care.
View Article and Find Full Text PDF253rd ENMC international workshop: Striated muscle laminopathies - natural history and clinical trial readiness. 24-26 June 2022, Hoofddorp, the Netherlands.
Neuromuscul Disord
June 2023
Sorbonne Université, INSERM, Institut de Myologie, Centre de Recherche en Myologie, Paris, France. Electronic address:
Effect of Intensity of Home Noninvasive Ventilation in Individuals With Neuromuscular and Chest Wall Disorders: A Systematic Review and Meta-Analysis of Individual Participant Data.
Arch Bronconeumol
August 2023
HP2 (Hypoxia and Physio-Pathologies) Laboratory, Inserm (French National Institute of Health and Medical Research), University Grenoble Alpes, Grenoble, France; Research and Development Department, AGIR à dom Association, Meylan, France. Electronic address:
Introduction: Home noninvasive ventilation (NIV), targeting a reduction of carbon dioxide with a combination of sufficient inspiratory support and backup-rate improves outcomes in patients with chronic obstructive pulmonary disease. The aim of this systematic review with individual participant data (IPD) meta-analysis was to evaluate the effects of intensity of home NIV on respiratory outcomes in individuals with slowly progressive neuromuscular (NMD) or chest-wall disorders (CWD).
Methods: Controlled, non-controlled and cohort studies indexed between January-2000 and December-2020 were sought from Medline, Embase and the Cochrane Central Register.
Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant.
Front Genet
March 2023
AnDDI-RARE Paris Referral Center for Birth Defects, Division of Medical Genetics, APHP Paris Saclay University, Paris, France.
Article Synopsis
- Sheldon-Hall syndrome (SHS), also known as distal arthrogryposis 2B (DA2B), is a rare condition marked by joint contractures and mild facial abnormalities, linked to mutations in specific muscle-related genes.
- A 16-year-old boy with severe kyphoscoliosis and respiratory issues, along with family members exhibiting milder symptoms, underwent a thorough diagnostic process that included physical exams, MRI, and genetic testing.
- Findings revealed a significant TNNT3 gene mutation in the boy, marking the first reported instance of neurogenic features in a DA2B patient, prompting questions about how developmental issues in fetal life might influence these symptoms and the role of genetic factors in SHS.
Perioperative complications after posterior spinal fusion versus minimally invasive fusionless surgery in neuromuscular scoliosis: a comparative study.
Arch Orthop Trauma Surg
August 2023
Pediatric Intensive Care, Raymond Poincaré University Hospital, APHP, Garches, France.
Article Synopsis
- * A study compared 140 patients who underwent either PSF or MIFS from 2012 to 2017, analyzing factors such as age, preoperative preparation, postoperative complications, and recovery period.
- * Results showed that while both techniques achieved similar spinal corrections, the PSF group experienced significantly more complications, including higher rates of infection and blood transfusion needs compared to the MIFS group.
Comment on: Dalbavancin in Gram-positive periprosthetic joint infections.
J Antimicrob Chemother
February 2023
Université Côte d'Azur, CHU Nice,, Infectious Diseases unit, 151 Route de St Antoine, 06200 Nice, France.
Gene therapy review: Duchenne muscular dystrophy case study.
Rev Neurol (Paris)
February 2023
Université Paris Cité, Inserm UMR1163, Imagine Institute, Clinical Bioinformatics laboratory, 75015 Paris, France; Genethon, Evry, France.
Gene therapy, i.e., any therapeutic approach involving the use of genetic material as a drug and more largely altering the transcription or translation of one or more genes, covers a wide range of innovative methods for treating diseases, including neurological disorders.
View Article and Find Full Text PDFSystemic light chain amyloidosis myopathy responsive to daratumumab monotherapy.
Eur J Neurol
March 2023
Neurology Department, Raymond Poincaré University Hospital, APHP, Garches, France.
Background And Purpose: Amyloid myopathy is a rare and severe manifestation of systemic light chain (AL) amyloidosis. Early diagnosis and staging are mandatory for optimal therapy, given the rapid progression of muscle weakness. Despite the efficacy of bortezomib-based treatment regimens, there is a lack of therapeutic alternatives in non-responsive patients.
View Article and Find Full Text PDFElevation of brain ADC (apparent diffusion coefficient) in HIV-associated neurocognitive disorders and evolution after treatment: A pilot study.
J Neurol Sci
November 2022
Radiology Department, DMU Smart Imaging, Raymond Poincaré University Hospital, APHP, Garches, France; APHP-Université Paris-Saclay, Garches, France.
Background: Thirty to 50% of HIV-infected patients develop HIV-Associated Neurocognitive Disorders (HAND) despite virological control. The previously published Neuro+3 study showed their neurocognitive status can be improved by intensifying antiviral therapy. Our study is a part of the Neuro3+ study and aims to study apparent diffusion coefficient (ADC) as a biomarker for neurological improvement.
View Article and Find Full Text PDFCardiac Outcomes in Adults With Mitochondrial Diseases.
J Am Coll Cardiol
October 2022
AP-HP, Pitié-Salpêtrière Hospital, Reference Center for Muscle Diseases Paris-Est, Myology Institute, Paris, France; AP-HP, Cochin Hospital, Cardiology Department, Paris Cedex, France; Université de Paris, Paris, France; Paris Cardiovascular Research Center (PARCC), INSERM Unit 970, Paris, France. Electronic address:
Article Synopsis
- Patients with mitochondrial diseases are at a higher risk for heart failure (HF) and serious heart-related events, prompting the creation of prediction models to estimate these risks.
- In a study involving 600 adult patients, over 6.67 years, 4.9% developed HF, and 5.1% experienced arrhythmic major adverse cardiac events (MACE).
- Key predictors for these heart issues included specific genetic variants, heart structure changes, and reduced heart function as indicated by low ejection fractions.*
Goal-Setting in Multiple Sclerosis-Related Spasticity Treated with Botulinum Toxin: The GASEPTOX Study.
Toxins (Basel)
August 2022
Department of Physical Medicine and Rehabilitation, Raymond-Poincaré University Hospital, AP-HP, 104 Blvd Raymond Poincaré, 92380 Garches, France.
Spasticity is one of the most disabling symptoms in multiple sclerosis (MS). Botulinum toxin injection (BTI) is a first-line treatment for focal spasticity. There is a lack of evidence of a functional improvement following BTI in MS-related spasticity.
View Article and Find Full Text PDFAssociation between COVID-19 infection and work exposure assessed by the Mat-O-Covid job exposure matrix in the CONSTANCES cohort.
Occup Environ Med
September 2022
Univ Angers, CHU Angers, Univ Rennes, Inserm, EHESP, Irset (Institut de recherche en santé, environnement et travail) - UMR_S 1085, Ester Unit, SFR ICAT, CAPTV CDC, Angers, France
Objectives: The COVID-19 pandemic has brought to light a new occupational health threat. We aimed to evaluate the association between COVID-19 infection and work exposure to SARS-CoV-2 assessed by a job-exposure matrix (JEM), in a large population cohort. We also estimated the population-attributable fraction among exposed subjects.
View Article and Find Full Text PDFHyaluronic Acid and Chondroitin Sulphate Treatment for Recurrent Severe Urinary Tract Infections due to Multidrug-Resistant Gram-Negative Bacilli in a Patient With Multiple Sclerosis: Case Report and Literature Review.
Open Forum Infect Dis
July 2022
Urology Department, Pitié-Salpétrière University Hospital, Paris Sorbonne University, Assistance Publique-Hôpitaux de Paris, Paris, France.
Urinary tract infections (UTIs) are the most common bacterial infections in patients with neurogenic lower urinary tract dysfunction. Antibiotic options for prophylaxis or curative treatment in case of recurrent UTIs, especially due to multidrug-resistant organisms (MDRO), are scarce. We present the case of a 72-year-old man with neurogenic lower urinary tract dysfunction and history of frequent recurrent UTIs due to multiple MDROs who was successfully treated with hyaluronic acid (HA) and chondroitin sulfate (CS) bladder instillations.
View Article and Find Full Text PDFRisk factors for unplanned surgery among patients hospitalized for non-purulent cellulitis.
Infect Dis Now
August 2022
Dermatology unit, Ambroise-Paré University Hospital, AP-HP Paris Saclay University, Boulogne-Billancourt, France.
Intracavernosal OnabotulinumtoxinA Exerts a Synergistic Pro-Erectile Effect When Combined With Sildenafil in Spontaneously Hypertensive Rats.
J Sex Med
June 2022
Pelvipharm SAS, Montigny le Bretonneux, France.
Background: Botulinum toxin A (BTX-A) has a variety of uses in medicine. Some evidence suggests that intracavernosal (ic) BTX-A injection administered in addition to phosphodiesterase type 5 inhibitors (PDE5-Is) could effectively treat erectile dysfunction (ED) in insufficient responders to PDE5-Is.
Aim: To provide experimental pharmacological evidence for the use of onabotulinumtoxinA ic alone or in combination with PDE5-Is for difficult-to-treat ED.
Infectious diseases and primary care telemedicine in France.
Infect Dis Now
June 2022
Infectious diseases department, Raymond-Poincaré University Hospital, AP-HP, Paris Saclay University, 104, boulevard R. Poincaré, 92380 Garches, France. Electronic address:
Macroglossia: A potentially severe complication of late-onset Pompe disease.
Eur J Neurol
July 2022
Neurology Department, APHP, Raymond Poincaré University Hospital, Garches, France.
Background: Pompe disease is a rare neuromuscular disorder caused by a deficiency of a lysosomal enzyme, acid α-glucosidase. Macroglossia is a classic clinical sign of several inherited myopathies and has also been reported to occur progressively in late-onset Pompe disease (LOPD).
Methods: We describe patients with LOPD and macroglossia included in the French national Pompe disease registry.