Search results for: P. Petiot

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article

Real‐life effectiveness 1 year after switching to avalglucosidase alfa in late‐onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study

Céline Tard, Françoise Bouhour, Maud Michaud, Stephane Beltran, more

European Journal of Neurology > 31 > 7 > n/a - n/a

Introduction Late‐onset Pompe disease (LOPD) is characterized by a progressive myopathy resulting from a deficiency of acid α‐glucosidase enzyme activity. Enzyme replacement therapy has been shown to be effective, but long‐term treatment results vary. Avalglucosidase alfa demonstrated non‐inferiority to alglucosidase alfa in a phase 3 study, allowing in France compassionate access for advanced LOPD...

article

Thymomes et maladies auto-immunes

Y. Jamilloux, H. Frih, C. Bernard, C. Broussolle, more

La Revue de M�decine Interne > 2018 > 39 > 1 > 17-26

The association between thymoma and autoimmunity is well known. Besides myasthenia gravis, which is found in 15 to 20% of patients with thymoma, other autoimmune diseases have been reported: erythroblastopenia, systemic lupus erythematosus, inflammatory myopathies, thyroid disorders, Isaac's syndrome or Good's syndrome. More anecdotally, Morvan's syndrome, limbic encephalitis, other autoimmune cytopenias,...

article

Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease

Constantinos Papadopoulos, David Orlikowski, Hélène Prigent, Arnaud Lacour, more

Molecular Genetics and Metabolism > 2017 > 122 > 1-2 > 80-85

The efficacy of enzyme replacement therapy (ERT) in patients at an advanced stage of Pompe disease has only been addressed in a few studies. Our objective was to assess the long term effects of ERT in a cohort of patients with severe Pompe disease.We identified patients from the French Pompe Registry with severe respiratory failure and permanent wheelchair use (assisted walk for a few meters was allowed)...

article

Focal myositis: A review

P. Devic, L. Gallay, N. Streichenberger, P. Petiot

Neuromuscular Disorders > 2016 > 26 > 11 > 725-733

Amongst the heterogeneous group of inflammatory myopathies, focal myositis stands as a rare and benign dysimmune disease. Although it can be associated with root and/or nerve lesions, traumatic muscle lesions and autoimmune diseases, its triggering factors remain poorly understood. Defined as an isolated inflammatory pseudotumour usually restricted to one skeletal muscle, clinical presentation of...

article

Effects of a potential D3/5-HT1A antipsychotic compound, F17464, in rat behavioural models of cognitive and negative symptoms of schizophrenia

A. Auclair, C. Barret-Grevoz, P. Petiot, S. Gatti-McArthur

European Neuropsychopharmacology > 2016 > 26 > S2 > S526

article

The wide POLG-related spectrum: An integrated view

M. Béreau, M. Anheim, A. Echaniz-Laguna, A. Magot, more

Journal of the Neurological Sciences > 2016 > 368 > C > 70-76

The aims of this study were to describe the spectrum of recessively inherited POLG-related disorders, to report new POLG mutations and to discuss genotype-phenotype correlations in order to propose a strategy for diagnosis. Twenty eight patients diagnosed with two POLG mutations at 12 tertiary European centers of adult neurology were studied. Exhaustive phenotypic data, brain MRI, muscle analysis,...

article

Myosite à inclusions et maladie cœliaque : une association pathologique ?

L. Gallay, L. Campean, F. Bouhour, P. Petiot, more

La Revue de M�decine Interne > 2016 > 37 > S1 > A147-A148

La myosite à inclusions (IBM pour Inclusion Body Myositis) est la myopathie inflammatoire la plus fréquente après 50ans. L’atteinte clinique, composée d’une atteinte proximale aux membres inférieurs et distale aux membres supérieurs, s’associe à un pattern histologique particulier avec la présence d’un infiltrat inflammatoire et de vacuoles bordées. La maladie cœliaque est une entéropathie immune...

article

Thymoma associated with autoimmune diseases: 85 cases and literature review

C. Bernard, H. Frih, F. Pasquet, S. Kerever, more

Autoimmunity Reviews > 2016 > 15 > 1 > 82-92

To describe the clinical features, treatment, and outcome of autoimmune diseases (AD) in a cohort of patients with thymoma.Pathological records from three university hospitals, between 2005 and 2011, were reviewed to identify patients with thymoma. Patients with thymoma and AD were compared with patients with thymoma without AD.47/85 (55%) cases of thymoma had AD, including myasthenia gravis (MG)...

article

Significant response to immune therapies in a case of subacute necrotizing myopathy and FKRP mutations

J. Svahn, N. Streichenberger, O. Benveniste, R. Menassa, more

Neuromuscular Disorders > 2015 > 25 > 11 > 865-868

Necrotizing myopathies can be encountered in various conditions as acquired myopathies (toxic or autoimmune) or muscular dystrophies. We report a twenty-year-old Caucasian woman who presented with clinical findings suggestive of an inflammatory myopathy: subacute onset of lower limb muscle weakness, myalgia, weight loss and absence of family history. The serum creatine kinase level was elevated at...

article

Somatosensory evoked potentials in the assessment of peripheral neuropathies: Commented results of a survey among French-speaking practitioners and recommendations for practice

R. Morizot-Koutlidis, N. André-Obadia, J.-C. Antoine, S. Attarian, more

Neurophysiologie Clinique / Clinical Neurophysiology > 2015 > 45 > 2 > 131-142

Somatosensory evoked potentials (SSEPs) are increasingly performed for the assessment of peripheral neuropathies, but no practical guidelines have yet been established in this specific application.To determine the relevant indication criteria and optimal technical parameters for SSEP recording in peripheral neuropathy investigation.A survey was conducted among the French-speaking practitioners with...

article

Antibodies to clustered acetylcholine receptor: expanding the phenotype

P. Devic, P. Petiot, T. Simonet, T. Stojkovic, more

European Journal of Neurology > 21 > 1 > 130 - 134

Background and purposeTo provide a detailed phenotypical description of seronegative patients with generalized myasthenia gravis and antibodies to clustered acetylcholine receptors (AChRs) and to assess their frequency amongst a French seronegative generalized myasthenia gravis (SNMG) population. MethodsA French SNMG database was created and the sera from the 37 patients included in it were analysed...

article

Dramatic improvement after rituximab in a patient with paraneoplastic treatment‐refractory Morvan syndrome associated with anti‐CASPR2 antibodies

E. Ong, A. Viaccoz, F. Ducray, M. Pérol, more

European Journal of Neurology > 20 > 7 > e96 - e97

article

Current French Pompe Prevalence Study (French PoPS)

S. Sacconi, M. Piraud, A. Echaniz-Laguna, C. Tranchant, more

Clinical Therapeutics > 2011 > 33 > 6 Supplement > S21

article

Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7

A. Ben Ammar, F. Petit, N. Alexandri, K. Gaudon, more

Journal of Neurology > 2010 > 257 > 5 > 754-766

Congenital myasthenic syndromes (CMSs) are a heterogeneous group of diseases caused by genetic defects affecting neuromuscular transmission. Mutations of DOK7 have recently been described in recessive forms of CMS. Dok-7 is a cytoplasmic post-synaptic protein co-activator of the muscle-specific receptor-tyrosine kinase (MuSK) involved in neuromuscular synaptogenesis and maintenance. We report clinical,...

article

G.P.11.11 Phenotypes of Pompe disease siblings

D. de Castro, K. Laloui, S. Sacconi, V. Doppler, more

Neuromuscular Disorders > 2008 > 18 > 9-10 > 803

article

M.P.2.07 Dilatative arteriopathy and basilar artery aneurysm complicating late-onset Pompe disease

P. Laforêt, P. Petiot, D. Orlikowski, T. Petitjean, more

Neuromuscular Disorders > 2007 > 17 > 9-10 > 794-795

article

Efficacité du Rituximab au cours d'un syndrome de Goujerot-Sjögren avec manifestations neurologiques

P. Sève, E. Lanier-Gachon, L. Bourdillon, M. Trancard, more

La Revue de medecine interne > 2006 > 27 > Supplement 3 > S342

article

CMS Solenoid Assembly

B. Levesy, P. Bredy, D. Campi, P. Fabbricatore, more

IEEE Transactions on Applied Superconductivity > 2006 > 16 > 2 > 517 - 520

CMS (Compact Muon Solenoid) is a general-purpose detector designed to run at the highest luminosity at the CERN Large Hadron Collider (LHC). Its distinctive features include a 4 T superconducting solenoid with a 6 m diameter by 12.5 m long free bore, enclosed inside a 10,000-ton return yoke. The assembly of the solenoid on CERN site starts with the building up, the electrical and hydraulic connection...

article

Possibly Linezolid-Induced Peripheral and Central Neurotoxicity: Report of Four Cases

T. Ferry, B. Ponceau, M. Simon, B. Issartel, more

Infection > 2005 > 33 > 3 > 151-154

Background: Linezolid is the first member of the new synthetic class of antibacterial agents that prevent the formation of the 70S ribosomal subunit. It represents an attractive choice in the therapeutic arsenal because it is effective against methicillin-resistant strains of Staphylococcus spp. Adverse hematological events have been reported. They are rapidly reversible after discontinuation...

article

B-05 Polynévrites et traitement prolongé par linezolide

T. Ferry, M. Simon, B. Ponceau, B. Issartel, more

Medecine et Maladies Infectieuses > 2004 > 34 > Supplement 1 > S139

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INFONA - science communication portal

Search results for: P. Petiot

Real‐life effectiveness 1 year after switching to avalglucosidase alfa in late‐onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study

Thymomes et maladies auto-immunes

Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme®) in 12 patients with advanced late-onset Pompe disease

Focal myositis: A review

Effects of a potential D3/5-HT1A antipsychotic compound, F17464, in rat behavioural models of cognitive and negative symptoms of schizophrenia

The wide POLG-related spectrum: An integrated view

Myosite à inclusions et maladie cœliaque : une association pathologique ?

Thymoma associated with autoimmune diseases: 85 cases and literature review

Significant response to immune therapies in a case of subacute necrotizing myopathy and FKRP mutations

Somatosensory evoked potentials in the assessment of peripheral neuropathies: Commented results of a survey among French-speaking practitioners and recommendations for practice

Antibodies to clustered acetylcholine receptor: expanding the phenotype

Dramatic improvement after rituximab in a patient with paraneoplastic treatment‐refractory Morvan syndrome associated with anti‐CASPR2 antibodies

Current French Pompe Prevalence Study (French PoPS)

Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7

G.P.11.11 Phenotypes of Pompe disease siblings

M.P.2.07 Dilatative arteriopathy and basilar artery aneurysm complicating late-onset Pompe disease

Efficacité du Rituximab au cours d'un syndrome de Goujerot-Sjögren avec manifestations neurologiques

CMS Solenoid Assembly

Possibly Linezolid-Induced Peripheral and Central Neurotoxicity: Report of Four Cases

B-05 Polynévrites et traitement prolongé par linezolide

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