5 results on '"Pellissier, Jean-François"'
Search Results
2. Non-lethal neonatal neuromuscular variant of glycogenosis type IV with novel GBE1 mutations.
- Author
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Fernandez C, Halbert C, De Paula AM, Lacroze V, Froissart R, Figarella-Branger D, Chabrol B, and Pellissier JF
- Subjects
- Biopsy, Female, Genotype, Glycogen Storage Disease Type IV diagnosis, Humans, Infant, Muscle, Skeletal pathology, Neuromuscular Diseases diagnosis, 1,4-alpha-Glucan Branching Enzyme genetics, Glycogen Storage Disease Type IV genetics, Mutation, Missense genetics, Neuromuscular Diseases genetics
- Abstract
We report a recent case of the severe congenital variant of glycogen storage disease type IV with prolonged survival. The patient was found to be a compound heterozygote for two novel mutations, a missense mutation in exon 5 (p.H188P, c.563A>C) and a severe mutation in intron 5 (c.691+2T>C). We propose that the genotype and the quality of medical care may account for the severe but non-lethal phenotype.
- Published
- 2010
- Full Text
- View/download PDF
3. Lewis-Sumner syndrome and multifocal motor neuropathy.
- Author
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Verschueren A, Azulay JP, Attarian S, Boucraut J, Pellissier JF, and Pouget J
- Subjects
- Action Potentials, Adult, Biopsy, Cerebrospinal Fluid Proteins metabolism, Demyelinating Diseases drug therapy, Diagnosis, Differential, Female, Humans, Immunosuppressive Agents administration & dosage, Male, Middle Aged, Motor Neuron Disease drug therapy, Motor Neurons pathology, Neurons, Afferent pathology, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating drug therapy, Retrospective Studies, Steroids administration & dosage, Demyelinating Diseases pathology, Demyelinating Diseases physiopathology, Motor Neuron Disease pathology, Motor Neuron Disease physiopathology, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating pathology, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating physiopathology
- Abstract
We compared the clinical, electrophysiological, laboratory, and pathological features of 13 patients with Lewis-Sumner syndrome (LSS) with those of 20 patients with multifocal motor neuropathy (MMN). LSS and MMN patients have several common clinical features: age at onset, weakness in the distribution of individual peripheral nerves, mild wasting, cramps and fasciculations, partial areflexia, and frequent stepwise disease course. Cerebrospinal fluid protein level was normal or slightly elevated, but always less than 100 mg/dl. Conduction blocks are the electrophysiological hallmarks of these two neuropathies, and no differences in distribution and number of blocks were found. Contrary to MMN, lower-limb involvement at onset was frequent in LSS but extension to the upper limbs was a frequent later feature of the disease. Cranial nerve involvement was noted in 4 LSS patients during relapses and absent in all MMN patients. The major distinguishing features were the clinical and electrophysiological sensory involvement in LSS, and the lack of anti-GM1 antibodies in LSS, whereas IgM anti-GM1 were found in 40% of MMN patients. Some LSS patients responded to steroid therapy, whereas this was ineffective in MMN. From these features, LSS can be considered an entity distinct from MMN, with its own clinical, laboratory, and electrophysiological characteristics, and as an intermediate link between chronic inflammatory demyelinating polyneuropathy and MMN.
- Published
- 2005
- Full Text
- View/download PDF
4. Focal myositis associated with S-1 radiculopathy: report of two cases.
- Author
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Streichenberger N, Meyronet D, Fiere V, Pellissier JF, and Petiot P
- Subjects
- Adult, Female, Humans, Hypertrophy physiopathology, Intervertebral Disc Displacement complications, Intervertebral Disc Displacement physiopathology, Intervertebral Disc Displacement surgery, Laminectomy, Magnetic Resonance Imaging, Male, Muscle Denervation adverse effects, Muscle, Skeletal innervation, Muscle, Skeletal physiopathology, Myositis pathology, Myositis physiopathology, Neural Conduction physiology, Radiculopathy physiopathology, Radiculopathy surgery, Sacrum, Spinal Nerves pathology, Spinal Nerves physiopathology, Spinal Nerves surgery, Tibial Nerve physiopathology, Hypertrophy etiology, Hypertrophy pathology, Muscle, Skeletal pathology, Myositis etiology, Radiculopathy complications
- Abstract
Two cases are described of pseudotumoral calf hypertrophy after laminectomy for a compressive S-1 radiculopathy. The serum creatine kinase (CK) level was normal or mildly elevated. T2-weighted magnetic resonance imaging (MRI) showed calf enlargement, with an increased signal of the medial head of the gastrocnemius muscle. Electromyography revealed fibrillation potentials and positive sharp waves, but no complex repetitive discharges in the affected gastrocnemius muscle, with motor unit potentials having mixed neurogenic and myopathic features. Muscle biopsy revealed a focal myositis associated with some features of denervation. A brief course of corticosteroids was followed by remission clinically and improvement in the MRI findings.
- Published
- 2004
- Full Text
- View/download PDF
5. Cytokines, chemokines, and cell adhesion molecules in inflammatory myopathies.
- Author
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Figarella-Branger D, Civatte M, Bartoli C, and Pellissier JF
- Subjects
- Humans, Immunohistochemistry, Muscle, Skeletal pathology, Myositis immunology, Cell Adhesion Molecules physiology, Chemokines physiology, Cytokines physiology, Myositis physiopathology
- Abstract
The inflammatory myopathies include dermatomyositis (DM), polymyositis (PM), and sporadic inclusion-body myositis (s-IBM). In DM, the main immune effector response appears to be humoral and directed against the microvasculature, whereas in both PM and s-IBM, cytotoxic CD8+ T cells and macrophages invade and eventually destroy nonnecrotic muscle fibers expressing major histocompatibility complex class I. The need for more specific and safer therapies in inflammatory myopathies has prompted researchers to better decipher the molecular events associated with inflammation and muscle fiber loss in these diseases. The complex specific migration of leukocyte subsets to target tissues requires a coordinated series of events, namely activation of leukocytes, adhesion to the vascular endothelium, and migration. Cell adhesion molecules (CAM) and chemokines play a major role in this multistep process. In addition, cytokines by stimulating CAM expression and orchestrating T-cell differentiation also influence the immune response. This review focuses on recent advances in defining the molecular events involved in leukocyte trafficking in inflammatory myopathies. Specific topics include a concise summary of clinical features, pathological findings and immunopathology observed in inflammatory myopathies, background information about cytokines, chemokines and cell adhesion molecules, and the expression of these molecules in inflammatory myopathies.
- Published
- 2003
- Full Text
- View/download PDF
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