A5029437047- Cystic Fibrosis Research Advances
- Neonatal Respiratory Health Research
- Genetic and Kidney Cyst Diseases
- Tracheal and airway disorders
- Sinusitis and nasal conditions
- Head and Neck Surgical Oncology
- Protist diversity and phylogeny
- Asthma and respiratory diseases
- Pediatric health and respiratory diseases
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Inhalation and Respiratory Drug Delivery
- Pneumocystis jirovecii pneumonia detection and treatment
- Allergic Rhinitis and Sensitization
- Microtubule and mitosis dynamics
- Nasal Surgery and Airway Studies
- Respiratory viral infections research
- Prenatal Screening and Diagnostics
- Sperm and Testicular Function
- Fetal and Pediatric Neurological Disorders
- Reproductive Biology and Fertility
- Infectious Diseases and Mycology
- Genetics and Neurodevelopmental Disorders
- Protease and Inhibitor Mechanisms
- Epigenetics and DNA Methylation
- Neuroscience of respiration and sleep
Sorbonne Université
2015-2024
Hôpital Armand-Trousseau
2014-2024
Assistance Publique – Hôpitaux de Paris
2015-2024
Maladies génétiques d’expression pédiatrique
2015-2024
Inserm
2014-2024
Hôpital Intercommunal de Créteil
1990-2024
Hôpital d'Enfants
2018-2024
Expression Génétique Microbienne
2014-2021
Université Paris Cité
1990-2018
Sorbonne Paris Cité
2018
The diagnosis of primary ciliary dyskinesia is often confirmed with standard, albeit complex and expensive, tests. In many cases, however, the remains difficult despite array sophisticated diagnostic There no "gold standard" reference test. Hence, a Task Force supported by European Respiratory Society has developed this guideline to provide evidence-based recommendations on testing, especially in light new developments such tests, need for robust diagnoses patients who might enter randomised...
To establish the diagnosis of alveolar hemorrhage (AH) in cells recovered by bronchoalveolar lavage (BAL), Golde and colleagues created a score based on hemosiderin content macrophages stained with Prussian blue. We used an easier method, calculating percentage siderophages among total BAL. have retrospectively studied this method 240 BALs performed 194 immunocompromised patients. blue staining was each BAL sample, calculated for 47 samples chosen at random. The methods were compared...
Thioredoxins belong to a large family of enzymatic proteins that function as general protein disulfide reductases, therefore participating in several cellular processes via redox-mediated reactions. So far, none the 18 members this has been involved human pathology. Here we identified TXNDC3, which encodes thioredoxin-nucleoside diphosphate kinase, gene implicated primary ciliary dyskinesia (PCD), genetic condition characterized by chronic respiratory tract infections, left-right asymmetry...
Primary ciliary dyskinesia (PCD) is a rare, usually autosomal recessive, genetic disorder characterized by dysfunction, sino-pulmonary disease, and situs inversus. Disease-causing mutations have been reported in DNAI1 DNAH5 encoding outer dynein arm (ODA) proteins of cilia.We analyzed to identify disease-causing PCD determine if the previously IVS1+2_3insT (219+3insT) mutation represents "founder" or "hot spot" mutation.Patients with from 179 unrelated families were studied. Exclusion...
Transmission electron microscopy (TEM) analysis of ciliary ultrastructure is classically used for the diagnosis primary dyskinesia (PCD). We report our extensive experience TEM in a large series patients order to evaluate its feasibility and results. performed 1,149 with suspected PCD was retrospectively reviewed. Biopsies (1,450) were obtained from nasal (44%) or bronchial (56%) mucosa children (66.5%) adults (33.5%). feasible 71.4% showed main defect suggestive 29.9%. more than children,...
Abstract By moving essential body fluids and molecules, motile cilia flagella govern respiratory mucociliary clearance, laterality determination the transport of gametes cerebrospinal fluid. Primary ciliary dyskinesia (PCD) is an autosomal recessive disorder frequently caused by non-assembly dynein arm motors into axonemes. Before their import flagella, multi-subunit axonemal arms are thought to be stabilized pre-assembled in cytoplasm through a DNAAF2–DNAAF4–HSP90 complex akin HSP90...
Primary ciliary dyskinesia (PCD) is a heterogeneous genetic condition. European and North American diagnostic guidelines recommend transmission electron microscopy (TEM) as one of combination tests to confirm diagnosis. However, there no definition what constitutes defect or consensus on reporting terminology. The aim this project was provide an internationally agreed ultrastructural classification for PCD diagnosis by TEM. A guideline developed experts representing 18 centres in 14...
Motile cilia and sperm flagella share an extremely conserved microtubule-based cytoskeleton, called the axoneme, which sustains beating motility of both organelles. Ultra-structural and/or functional defects this axoneme are well-known to cause primary ciliary dyskinesia (PCD), a disorder characterized by recurrent respiratory tract infections, chronic otitis media, situs inversus, male infertility in most severe cases, hydrocephalus. Only recently, mutations genes encoding axonemal proteins...
Primary ciliary dyskinesia (PCD) is a heterogeneous inherited disorder caused by mutations in approximately 50 cilia-related genes. PCD genotype-phenotype relationships have mostly arisen from small case series because existing statistical approaches to investigating been unsuitable for rare diseases.We applied topological data analysis (TDA) approach investigate PCD. Data separate training and validation cohorts included 396 genetically defined individuals carrying pathogenic variants To...
Tubulin, one of the most abundant cytoskeletal building blocks, has numerous isotypes in metazoans encoded by different conserved genes. Whether these distinct form cell type– and context-specific microtubule structures is poorly understood. Based on a cohort 12 patients with primary ciliary dyskinesia as well mouse mutants, we identified characterized variants TUBB4B isotype that specifically perturbed centriole cilium biogenesis. Distinct differentially affected dynamics cilia formation...
Although respiratory changes induced by tobacco smoke have been extensively described, no study has focused on ciliary abnormalities associated with chronic smoking. Ciliary ultrastructure was studied in 37 adults sputum production (CSP) consisting of 13 current smokers (Group 1), 5 ex-smokers 2), and 19 nonsmokers 3). Five healthy constituted the control group 4). Clinical radiologic data function tests were recorded. Acute infection diagnosed culture tracheobronchial secretions obtained...
We report here our experience of secondary pulmonary alveolar proteinosis (PAP) in patients with hematologic malignancies. The diagnosis PAP was made by bronchoalveolar lavage (BAL) and based on the identification periodic acid-Schiff-positive proteinaceous material characteristic ultrastructural pattern. Ten leukemia are described. Three had received bone marrow transplants. Data obtained from sequential BAL have shown that at least four them--all them achieving complete remission or...
To evaluate the safety and efficacy of radiofrequency for reduction inferior turbinate volume.Prospective before-and-after trial.Fourteen patients complaining chronic nasal obstruction failing to respond medical treatment were prospectively enrolled. All presented with hypertrophy no septal deformity. Radiofrequency tissue three punctures in each (mean energy/puncture: 342 +/- 36 J, mean duration: 69 17 s, plateau temperature: 75 6.4 degrees C). Patients evaluated before on days 3, 7, 60...
<h3>Objectives</h3> To analyze otologic features in patients with primary ciliary dyskinesia (PCD) aged 0 to 18 years and evaluate the correlation between ultrastructural defects severity of features. <h3>Design</h3> Retrospective study. <h3>Setting</h3> Pediatric referral center. <h3>Patients</h3> Fifty-eight PCD were evaluated following 4 age intervals: group 1, preschool (≤5 [n = 47]); 2, school (6-11 50]); 3, teenagers (12-17 34]); 4, young adults (≥18 years; 27 for oldest 10])....