A5101495915- Muscle Physiology and Disorders
- Cardiomyopathy and Myosin Studies
- Neurogenetic and Muscular Disorders Research
- Genetic Neurodegenerative Diseases
- Nuclear Structure and Function
- Connective tissue disorders research
- Respiratory Support and Mechanisms
- Myasthenia Gravis and Thymoma
- Spine and Intervertebral Disc Pathology
- Dermatological and Skeletal Disorders
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Hereditary Neurological Disorders
- Congenital heart defects research
- Cardiac Structural Anomalies and Repair
- RNA modifications and cancer
- Mitochondrial Function and Pathology
- Spinal Fractures and Fixation Techniques
- RNA Research and Splicing
- Scoliosis diagnosis and treatment
- Congenital Diaphragmatic Hernia Studies
- Congenital Anomalies and Fetal Surgery
- Dupuytren's Contracture and Treatments
- Inflammatory Myopathies and Dermatomyositis
- Thermal Regulation in Medicine
- Genomics and Rare Diseases
Université de Versailles Saint-Quentin-en-Yvelines
2015-2025
Hôpital Raymond-Poincaré
2014-2025
Inserm
2015-2025
Université Paris-Saclay
2020-2024
Assistance Publique – Hôpitaux de Paris
2009-2024
Hôpitaux Universitaires Paris-Ouest
2012-2023
Hôpital Ambroise-Paré
2022-2023
CHU Ambroise Paré
2020-2021
Distal arthrogryposis (DA) is a heterogeneous subgroup of multiplex congenita (AMC), large family disorders characterized by multiple congenital joint limitations due to reduced fetal movements. DA mainly contractures afflicting especially the distal extremities without overt muscular or neurological signs. Although limited number genes mostly implicated in contractile apparatus have been identified DA, most patients failed show mutations currently known genes. Using pangenomic approach, we...
The aim of this study was to delineate the spectrum muscle involvement in patients with a myopathy due mutations SEPN1 (SEPN1-RM).Whole-body magnetic resonance imaging (WBMRI) used 9 using T1-weighted turbo spin-echo (T1-TSE) sequences and short tau inversion recovery (STIR) 5 patients.Analysis signal volume abnormalities by T1-TSE 109 muscles showed homogeneous pattern characterized recognizable combination atrophy selected neck, trunk, pelvic girdle, lower limbs. Severe wasting...
Background and objective Oculopharyngeal muscular dystrophy (OPMD) is a genetic disorder caused by an abnormal expansion of GCN triplets within the PABPN1 gene. Previous descriptions have focused on lower limb muscles in small cohorts patients with OPMD, but larger imaging studies not been performed. too to be able correlate findings clinical data. Methods We present cross-sectional, T1-weighted muscle MRI CT-scan data from 168 genetically confirmed OPMD. analysed pattern involvement disease...
Skeletal muscle stem cells, called satellite cells and defined by the transcription factor PAX7, are responsible for postnatal growth, homeostasis regeneration. Attempts to utilize regenerative potential of therapeutic purposes so far failed. We previously established existence human PAX7-positive cell colonies with high potential. now identified PAX7-negative muscle-derived also positive myogenic markers desmin MYF5. These include from a patient homozygous PAX7 c.86-1G > A mutation...
Abstract Introduction Nusinersen is associated with an improvement in motor function children spinal muscular atrophy (SMA) but data on respiratory muscles strength are scarce. Respiratory performance and lung were evaluated SMA 1c 2 after six injections of nusinersen (M14). Results from patients SMA2 compared age‐matched historical controls. Motor tests (MFM HINE‐2) assessed at baseline M14 the treated patients. Sixteen (2 Type 14 2), mean age 9.4 ± 2.3 years, included. The controls (mean...
Background In patients with neuromuscular disorders, assessment of respiratory function relies on forced vital capacity (FVC) measurements. Providing complementary outcomes may be useful for clinical trials. Diaphragm sniff ultrasound (US) is a noninvasive technique that can assess diaphragm affected in disorders. Purpose We aimed to provide normal values ultrasound, the relationship between US, (VC) and nasal pressure. Additionally, we evaluate diagnostic accuracy US predicting restrictive...
ABSTRACT This report highlights that severe manifestations of intestinal fragility can occur in kyphoscoliotic EDS, as already described vascular EDS.
To evaluate the brain magnetic resonance (MR) imaging findings in patients with "classic" form of congenital muscular dystrophy (patients normal intelligence) relation to absence merosin, a recently identified molecular component basement membrane muscle fiber.Brain MR images 15 (13 children, two adults) were reviewed and correlated patient's merosin status. Merosin was evaluated by means immunocytochemical study specimens from biopsy.Nine had deficiency. All diffuse white matter alterations...
Recent reports have suggested an increased risk of pulmonary embolism (PE) related to COVID-19. The aim this cohort study is compare the incidence PE during a 3-year period and assess characteristics in We studied consecutive patients presenting with (January 2017-April 2020). Clinical presentation, computed tomography (CT) biological markers were systematically assessed. recorded global number hospitalizations COVID-19 pandemic same 2018-2019. included 347 patients: 326 without 21 Patients...
Background. We assessed the usefulness of a longitudinal strain adjusted to regional thickness in hypertrophic cardiomyopathy (HCM). Indeed, with conventional software, width region interest (ROI) is same over entire myocardial wall, wherein software analyzes only partially left ventricular (LV) segments. Methods. included 110 patients: 55 patients HCM (HCM group) and healthy subjects (age- sex-matched control group). The global (GLS) for each 17 segments was calculated standard (for two...
Background: Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic muscle disorder. Respiratory function classically affected in this disease. Ultrasound recently emerged as a non-invasive tool to assess diaphragm function. However, there are only few studies using ultrasound (US) DMD. Purpose: We aimed patterns DMD, their relationship with age and association home mechanical ventilation (HMV). Methods: included DMD patients followed at Raymond Poincaré Hospital who benefited...
Abstract Rare pathogenic variants in TOR1AIP1 (OMIM 614512), coding the inner nuclear membrane protein lamin‐associated 1 (LAP1), have been associated with a spectrum of disorders including limb girdle muscular dystrophy cardiac involvement and severe multisystem phenotype. Recently, Cossins et al reported two siblings impaired transmission neuromuscular synapse, demonstrating that defective LAP1 may lead to congenital myasthenic syndrome. Herein, we describe association deficiency syndrome...
Background We report two cases of RASA1 -related capillary malformation-arteriovenous malformation (CM-AVM1) syndrome mimicking hereditary haemorrhagic telangiectasia (HHT). Methods and results A 28-year-old man, previously embolised for cerebral arteriovenous malformations (AVMs), presented with epistaxis typical nasal telangiectasias HHT. CT scan revealed a large portocaval shunt. The second patient was 9-year-old girl presenting cyanosis several mucocutaneous telangiectasias, similar to...
Abstract Kyphoscoliotic Ehlers–Danlos syndrome (kEDS) is a rare genetic disorder combining congenital hypotonia, congenital/early onset and progressive kyphoscoliosis, generalized joint hypermobility. Vascular fragility another characteristic of the disease rarely described. We report severe case kEDS‐PLOD1 with several vascular complications leading to difficulties in management.
Background Myosin heavy chain 7 ( MYH7 )-related myopathies -RMs) are a group of muscle disorders linked to pathogenic variants in the gene, encoding slow/beta-cardiac myosin chain, which is highly expressed skeletal and heart. The phenotype heterogeneous including distal, predominantly axial or scapuloperoneal with variable cardiac involvement. Methods We retrospectively analysed clinical, MRI, genetic myopathological features 57 patients. Patients received thorough neurological (n=57,...
Abstract COL1 ‐related overlap disorder is a condition, which not yet considered as part of the 2017 EDS classification. However, it should be investigated an alternative diagnosis for any patient with hypermobile EDS. This could allow providing appropriate genetic counseling.