Revues de presse

Voici un échantillon d’articles publiés par nos centres en 2020.

Maladies endocriniennes 

  • CRMR Hypo : Evaluation of an individualized education program in pituitary diseases: a pilot study by F Albarel F, I Pellegrini, H Rahabi, C Baccou, L Gonin, C Rochette, M Vermalle, T Cuny, F Castinetti and T Brue in Eur J Endocrinol. 2020. Lien PubMed


Maladies héréditaires du métabolisme​

  • COMMet : Health Status of French Young Patients with Inborn Errors of Metabolism with Lifelong Restricted Diet by Cano A, Resseguier N, Ouattara A, De Lonlay P, Arnoux JB, Brassier A, Schiff M, Pichard S, Fabre A, Hoebeke C, Guffon N, Fouilhoux A,  Broué P, Touati G, Dobbelaere D, Mention K, Labarthe F, Tardieu M, De Parscau L, Feillet F, Bonnemains C, Kuster A, Labrune P, Barth M,  Damaj L, Lamireau D, Berbis J, Chabrol B, Auquier P in J Pediatr. 2020. Etude comparativeLien PubMed
  • Transition from paediatric to adult care in adolescents with neurological diseases and handicap by Chabrol B, Milh M in Rev Neurol (Paris). 2020. ReviewLien PubMed 

     

​Maladies neuromusculaires

  • CRMR Maladies Neuromusculaires rares- PACA Réunion Rhône-Alpes : Guidance for the care of neuromuscular patients during the COVID-19 pandemic outbreak from the French Rare Health Care for Neuromuscular Diseases Network by Solé G, E Salort-Campana, Y Pereon, T Stojkovic, K Wahbi, P Cintas, D Adams, P Laforet, V Tiffreau, I Desguerre, LI Pisella, A Molon, S Attarian and FILNEMUS COVID-19 study group in Rev Neurol (Paris). 2020. Practice Guideline. Lien PubMed 
  • Impact of Coronavirus Disease 2019 in a French Cohort of Myasthenia Gravis by G Solé, S Mathis, D Friedman, E Salort-Campana, C Tard, F Bouhour, A Magot, D Annane, B Clair, G Le Masson, A Soulages, F Duval, L Carla, MH Violleau, T Saulnier, S Segovia-Kueny, L Kern, JC Antoine, G Beaudonnet, F Audic, L Kremer, JB Chanson, A Nadaj-Pakleza, T Stojkovic, P Cintas, M Spinazzi, A Foubert-Samier, S Attarian in Neurology. 2021. Lien PubMed
  • Management challenges for chronic dysimmune neuropathies during the COVID-19 pandemic by YA Rajabally, HS Goedee, S Attarian, HP Hartung in Muscle Nerve. 2020. Review. Lien PubMed 
  • CRMR Maladies mitochondriales de l’enfant à l’adulte : Single-fiber studies for assigning pathogenicity of eight mitochondrial DNA variants associated with mitochondrial diseases by Zereg E, Chaussenot A, Morel G, Bannwarth S, Sacconi S, Soriani MH, Attarian S, Cano A, Pouget J, Bellance R, Tranchant C, Lannes B, de Paula AM, Saadi Ait-El-Mkadem S, Chafino B, Berthet M, Fragaki K, Paquis-Flucklinger V, Rouzier C. in Hum Mutat. 2020. Lien PubMed 
  • Recurrent Liver Failure in an 11-Year-Old Boy by Neveu J, Hoebeke C, Lebigot E, Naïmi M in Clin Chem. 2020. Etude de cas. Lien PubMed 
  • CRMR SLA et autres maladies rares du neurone moteur : Combination of serum and CSF neurofilament-light and neuroinflammatory biomarkers to evaluate ALS by A Brodovitch, J Boucraut, E Delmont, A Parlanti, AM Grapperon, S Attarian, A Verschueren in Sci Rep. 2021. Lien PubMed 

Maladies neurologiques

  • ​CRMR Déficiences intellectuelles de cause rare et Polyhandicap : Clinical characteristics of COVID-19 infection in polyhandicapped persons in France by MC Rousseau, M Hully, M Milh, D Juzeau, B Pollez, S Peudenier, N Bahi Buisson, V Gautheron, French Polyhandicap (PLH), COVID Observatory Group by B Chabrol, T Billette de Villemeur in Arch Pediatr. Observational Study. 2021. Lien PubMed 
  • CCMR Leucodystrophies et leuco encéphalopathies rares (LEUKOFRANCE) : Comparison of the response to rituximab between MOG- and AQP4-antibody diseases by P Durozard, A Rico, C Boutiere, A Maarouf, R Lacroix, S Cointe, S Fritz, C Brunet, J Pelletier, R Marignier, B Audoin in Ann Neurol. 2020. Observational Study. Lien PubMed
  • CCMR Atrophie MultiSystématisée (AMS) : Prevalence and characterisation of vocal fold motion impairment (VFMI) in patients with Multiple system atrophy compared with Parkinson's disease by S Grimaldi, M Renaud, D Robert, A Lagier, H Somma, S Soulayrol, D Korchia, F Fluchère, O Lagha-Boukbiza, M Schaeffer, T Witjas, JP Azulay and A Eusebio in Revue Neurologique. 2020. Lien PubMed
  • CCMR Démences rares ou précoces : Clinical Phenotypes in Corticobasal Syndrome with or without Amyloidosis Biomarkers by A Benvenutto, E Guedj, O Felician, A Eusebio, JP Azulay, M Ceccaldi and L Koric in J Alzheimers Dis. 2020. Lien PubMed

Maladies hématologiques, immunitaires et vasculaires 

  • CRMR CRPP : RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology by M Canault and MC Alessi in Int J Mol Sci. 2020. Lien PubMed   
  • CRC Maladies Hémorragiques Constitutionnelles : Congenital factor XIII deficiency: comprehensive overview of the FranceCoag cohort by S Bouttefroy, S Meunier, V Milien, M Boucekine, P Chamouni, D Desprez, A Harroche, A Hochart, MF Thiercelin-Legrand, B Wibaut, H Chambost, L Rugeri and CoDeC study group in Br J Haematol. 2020. Lien PubMed
  • CRMR Syndromes Drépanocytaires Majeurs, Thalassémies et Autres pathologies rares du globule rouge et de l’Erythropoïèse : Mortality in children with sickle cell disease in mainland France from 2000 to 2015 by E Desselas, I Thuret, F Kaguelidou, M Benkerrou, M de Montalembert, MH Odièvre, E Lesprit, E Rumpler, A Fontanet, C Pondarre and V Brousse in Haematologica. 2020. Lien PubMed
  • CCMR CREAK : Angioedema associated with thrombolysis for ischemic stroke: analysis of a case-control study by C Vigneron, A Lécluse, T Ronzière, L Bouillet, I Boccon-Gibod, S Gayet et al. in J Intern Med. 2019. Lien PubMed
  • CCMR RAISE : Les immunosuppresseurs dans les uvéites pédiatriques sévères ou chroniques: revue de la littérature / Immunosuppressive therapy in severe or chronic pediatric uveitis: Review of the literature by Stolowy N, Zanin E, Comet A, Jurquet AL, Benso C, Matonti F, Retornaz K, Kaplanski G, Denis D.Stolowy N, et al. in J Fr Ophtalmol. 2021. Review. Lien Pubmed - Cet article fait suite au PNDS Uvéites Chroniques Non Infectieuses de l’enfant et de l’adulte- 2020
  • CCMR CREMAIA Enfants : French recommendations for the management of Behçet's disease by Kone-Paut I, Barete S, Bodaghi B, Deiva K, Desbois AC, Galeotti C, Gaudric J, Kaplanski G, Mahr A, Noel N, et al. in Orphanet J Rare Dis 2021. Review. Lien PubMed - Cet article fait suite au PNDS Maladie de BEHÇET- 2019 
  • CCMR CEREMAIA Adultes : Functional and genetic testing in adults with HLH reveals an inflammatory profile rather than a cytotoxicity defect by J Carvelli, C Piperoglou, C Farnarier, F Vely, K Mazodier, S Audonnet, P Nitschke, C Bole-Feysot, M Boucekine, A Cambon, M Hamidou, JR Harle, G de Saint Basile and G Kaplanski in Blood. 2020 Lien PubMed
  • CCMR : Lupus, syndrome des anticorps antiphospholipides et autres maladies autoimmunes rares : Hydroxychloroquine levels in patients with systemic lupus erythematosus: whole blood is preferable but serum levels also detect non-adherence by B Blanchet, M Jallouli, M Allard, P Ghillani-Dalbin, L Galicier, O Aumaître, F Chasset, V Le Guern, F Lioté, A Smail, N Limal, L Perard, H Desmurs-Clavel, D Le Thi Huong, B Asli, JE Kahn, L Sailler, F Ackermann, T Papo, K Sacré, O Fain, J Stirnemann, P Cacoub, G Leroux, J Cohen-Bittan, J Sellam, X Mariette, C Goulvestre, JS Hulot, Z Amoura, M Vidal, JC Piette; PLUS Group, N Jourde-Chiche and N Costedoat-Chalumeau in Arthritis Res Ther. 2020. Lien PubMed 
  • CCMR Maladies auto-immunes systémiques rares : Infliximab is an effective glucocorticoid-sparing treatment for Takayasu arteritis: Results of a multicenter open-label prospective study by P Mertz, JF Kleinmann, M Lambert, X Puéchal, A Bonnin, C Boulon, E Diot, E Hachulla, N Harid, JR Harle, G Helder, JE Kahn, I Kone-Paut, C Lavigne, N Magy-Bertrand, H Maillard, T Martin, F Maurier, V Poindron, N Schleinitz, J Sibilia and L Arnaud in Autoimmun Rev. 2020. Clinical Trial. Lien PubMed 

Anomalies du développement 

  • CCMR MAREP : Quality of life and neuropsychological development at school age in Hirschsprung’s disease by E Mille, A Dariel, C Borrione, T Merrot and C Gire in J Pediatr Surg. 2020. Lien PubMed 
  • Multicenter evaluation of the observance of Peristeen transanal irrigation system in children by P. Lallemant-Dudek, C Cretolle, F Hameury, JL Lemelle and C Louis-Borrione, V Forin in Ann Phys Rehabil Med. 2020. Observational Study. Lien PubMed 


Maladies cardiaques et vasculaires 

  • CCMR M3C : Berlin Heart EXCOR Paediatric Ventricular Assist Device: Does Weight Matter? by V Fouilloux, F El Louali, C Gran, R Henaine, F Roubertie, C Chenu, M Fiorini, S Le Bel, P Mauriat, J Neidecker, L Macé, B Kreitmann and C Ovaert in Heart Lung Circ. 2021. Observational Study. Lien PubMed


Maladies pulmonaires 

  • CRC Mucoviscidose et Affections liées  à une anomalie du CFRT : The global impact of SARS-CoV-2 in 181 people with cystic fibrosis by E McClenaghan, R Cosgriff, K Brownlee, S Ahern, PR Burgel, CA Byrnes, C Colombo, H Corvol, SY Cheng, G Daneau, A Elbert, A Faro, CH Goss, V Gulmans, H Gutierrez, I de Monestrol, A Jung, LN Justus, N Kashirskaya, BC Marshall, E McKone, PG Middleton, P Mondejar-Lopez, MD Pastor-Vivero, R Padoan, S Rizvi, R Ruseckaite, M Salvatore, AL Stephenson, Filho LVRDS, J Melo, M Zampoli, SB Carr; Global Registry Harmonization Group. in J Cyst Fibros. 2020. Lien PubMed
  • First Wave of COVID-19 in French Patients with Cystic Fibrosis by H Corvol, S de Miranda, L Lemonnier, A Kemgang, M Reynaud Gaubert, R Chiron, ML Dalphin, I Durieu, JC Dubus, V Houdouin, A Prevotat, S Ramel, M Revillion, L Weiss, L Guillot, PY Boelle, PR Burgel in J Clin Med. 2020. Lien PubMed 
  • Global Registry Harmonization Group. A multinational report to characterise SARS-CoV-2 infection in people with cystic fibrosis by R Cosgriff, S Ahern, SC Bell, K Brownlee, PR Burgel, C Byrnes, H Corvol, SY Cheng, A Elbert, A Faro, CH Goss, V Gulmans, BC Marshall, E McKone, PG Middleton, R Ruseckaite, AL Stephenson, SB Carr SB in J Cyst Fibros. 2020. Lien PubMed 
  • Real-Life Safety and Effectiveness of Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis by PR Burgel, A Munck, I Durieu, R Chiron, L Mely, A Prevotat, M Murris-Espin, M Porzio, M Abely, P Reix, C Marguet, J Macey, I Sermet-Gaudelus, H Corvol, S Bui, L Lemonnier, C Dehillotte, J Da Silva, JL Paillasseur, D Hubert and French Cystic Fibrosis Reference Network Study Group in Am J Respir Crit Care Med. 2020. Observational Study.  Lien PubMed 
  • The impact of chest computed tomography and chest radiography on clinical management of cystic fibrosis lung disease by CF Bortoluzzi, E Pontello, E Pintani, KM de Winter-de Groot, C D'Orazio, BM Assael, MGM Hunink, HAWM Tiddens, D Caudri; CF Clinics Study Group in J Cyst Fibros. 2020. Randomized Controlled Trial. Lien PubMed 
  • CCMR RespiRARe : Respiratory management of children with spinal muscular atrophy (SMA) by B Fauroux, L Griffon, A Amaddeo, N Stremler, J Mazenq, S Khirani, M Baravalle-Einaudi in Arch Pediatr. 2020. Lien PubMed 
  • Successful Treatment of Interstitial Lung Disease in STAT3 Gain-of-Function Using JAK Inhibitors by M Silva-Carmona, TP Vogel, S Marchal, M Guesmi, JC Dubus, S Leroy, A Fabre, V Barlogis, LR Forbes, L Giovannini-Chami in Am J Respir Crit Care Med. 2020. Case Reports. Lien PubMed

Maladies du calcium, du cartilage, de l’os et des dents

  • CCMR O-Rares : Inequalities in treatment planning for children with intellectual disabilities: A questionnaire study of dentists in Europe by A Camoin, C Tardieu, L Dany, B Saliba-Serre, D Faulks, P Le Coz in Spec Care Dentis. 2020. Lien PubMed

Maladies dermatologiques 

  • CCMR Neurofibromatose- Adules : Does NF2 status impact the results of combined surgery and adjunctive Gamma Knife surgery for large vestibular schwannomas? by L Troude, M Boucekine, M Montava, A Balossier, JP Lavieille, J Régis, PH Roche in Neurosurg Rev. 2020. Lien PubMed