123 results on '"Mussini JM"'
Search Results
2. Neuropathie motrice multifocale avec blocs de conduction. Sept observations
- Author
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Boutoille, D, primary, Hamidou, M, additional, Mussini, JM, additional, Furie, I, additional, and Grolleau, JY, additional
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- 1998
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3. Émergence d'une nouvelle maladie: la myofasciite à macrophage
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Chérin, P, primary, Ghérardi, R, additional, Eymard, B, additional, Laforêt, P, additional, Coquet, M, additional, Colin, JY, additional, Authier, FJ, additional, Bélec, L, additional, Figarella-Branger, D, additional, Mussini, JM, additional, Pellissier, JF, additional, Pennaforte, JL, additional, Séréni, D, additional, Fardeau, M, additional, and Hersort, S, additional
- Published
- 1998
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4. Ciclosporine dans la fibrose pulmonaire du syndrome des antisynthétases
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Hamidou, M, primary, El Kouri, D, additional, Audouin, H, additional, Mussini, JM, additional, and Grolleau, JY, additional
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- 1998
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5. Lymphome intravasculaire : un tableau clinique trompeur au diagnostic difficile
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Magadur-Joly, G, primary, Moreau, A, additional, Horeau, D, additional, Le Tortorec, S, additional, Mussini, JM, additional, and Barrier, JH, additional
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- 1994
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6. Syndrome de Guillain-Barré au cours d'une maladie de Horton
- Author
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Tiab, M, primary, Raffi, F, additional, Hamidou, M, additional, Mussini, JM, additional, and Barrier, JH, additional
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- 1994
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7. Muscle biopsy in anti-neutrophil cytoplasmic antibody-associated vasculitis: diagnostic yield depends on anti-neutrophil cytoplasmic antibody type, sex and neutrophil count.
- Author
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Lacou M, Leroy M, Le Lan N, Toquet C, Espitia-Thibault A, Graveleau J, Masseau A, Agard C, Volteau C, Mussini JM, Hamidou M, and Néel A
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- Aged, Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis epidemiology, Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis immunology, Antibodies, Antineutrophil Cytoplasmic immunology, Female, France epidemiology, Humans, Incidence, Leukocyte Count, Male, Middle Aged, Muscle, Skeletal metabolism, Muscle, Skeletal pathology, Neutrophils immunology, Prognosis, Recurrence, Retrospective Studies, Sex Factors, Algorithms, Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis diagnosis, Biopsy methods, Muscle, Skeletal immunology, Neutrophils pathology
- Abstract
Objectives: This study aimed to examine the sensitivity of muscle biopsy (MB) in ANCA-associated vasculitis (AAV), identify factors predicting MB positivity and assess the prognostic value of a positive MB., Methods: We conducted a single-centre retrospective study of AAV with an MB performed at diagnosis. AAV classification [granulomatosis with polyangiitis (GPA), microscopic polyangiitis (MPA), eosinophilic granulomatosis with polyangiitis (EGPA)] followed the European Medicines Agency algorithm. A logistic regression model was used to identify the factors associated with MB positivity. Survival curves were generated using the Kaplan-Meier method., Results: Among 276 AAV patients (1995-2018), 101 had an MB. Seventy-eight patients were included: 33 with GPA, 25 with MPA and 20 with EGPA. MB samples were positive in 45 cases (58%): 17 GPA, 16 MPA and 12 EGPA. Univariate analysis focussed on GPA and MPA, revealed that the MB yield was higher in females [22/31 (71%) vs 11/27 (41%); P = 0.02] and in anti-MPO patients [25/37 (68%) vs 6/19 (32%) for anti-PR3; P = 0.01]. By multivariate analysis, three factors predicted MB positivity: anti-MPO ANCA [odds ratio (OR) 10.67 (CI 2.09, 81.68)], female sex [OR 5.3 (CI 1.16, 32.35)] and neutrophil count [OR 1.33 (CI 1.07, 1.8)]. MB positivity had no impact on relapse, death or end-stage renal disease-free survival., Conclusions: MB is a safe and efficient diagnostic tool for AAV. Predictors of MB yield include ANCA type, sex and neutrophil count. MB cannot substitute for kidney biopsy when indicated, but should be considered in other cases., (© The Author(s) 2020. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For permissions, please email: journals.permissions@oup.com.)
- Published
- 2021
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8. ARL6IP1 mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegia.
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Nizon M, Küry S, Péréon Y, Besnard T, Quinquis D, Boisseau P, Marsaud T, Magot A, Mussini JM, Mayrargue E, Barbarot S, Bézieau S, and Isidor B
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- Amino Acid Sequence, Base Sequence, Child, Preschool, Female, Homozygote, Humans, Male, Pedigree, Exome Sequencing methods, Adaptor Proteins, Signal Transducing genetics, Genetic Predisposition to Disease genetics, Hereditary Sensory and Autonomic Neuropathies genetics, Membrane Proteins genetics, Mutation, Pain Insensitivity, Congenital genetics, Paraplegia genetics
- Abstract
Hereditary sensory and autonomic neuropathies (HSAN) type II are characterized by autosomal recessive inheritance, onset at birth and self-mutilating behavior. Here, we described a new patient with congenital insensitivity to pain, sensory neuropathy, acromutilation, and spastic paraplegia. Whole-exome sequencing showed a homozygous frameshift variant c.[577_580del], p.(Lys193Phefs*37) in ARL6IP1. The protein harbors reticulon-like short hairpin transmembrane domains and has a role in endoplasmic reticulum shaping. The variant causes an additional C-terminus hydrophobic domain which could disrupt its function. ARL6IP1 interacts with atlastin-1 responsible for SPG3A and HSAN type ID. This report highlights the role of ARL6IP1 in the pathophysiology of insensitivity to pain and spastic paraplegia., (© 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
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- 2018
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9. Sjögren's syndrome-associated myositis with germinal centre-like structures.
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Espitia-Thibault A, Masseau A, Néel A, Espitia O, Toquet C, Mussini JM, and Hamidou M
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- Aged, Female, Humans, Male, Middle Aged, Germinal Center pathology, Myositis etiology, Sjogren's Syndrome complications
- Abstract
Objective: Muscular impairment is a rare systemic manifestation of SS that is rarely described in the literature and classically non-specific, both clinically and histologically. We reviewed the cases of 4 patients with primary SS presenting with myositis and a common histologic pattern on muscular biopsy with germinal centre-like structures resembling that which occurs in salivary glands., Methods: We analysed the data files of patients with SS who had muscular manifestations and underwent a muscular biopsy. Among 23 patients with SS who had muscle biopsies, 13 had non-specific myositis and 10 (4 primary and 6 secondary SS) had a common histologic pattern consisting of germinal centre-like structures. We analysed the data files of the 4 patients with primary SS presenting with myositis with muscular germinal-centre like structures., Results: The 4 patients had an unspecific clinical presentation, with myalgias, muscular weakness and normal or elevated values of CPK. In the four patients, SS-associated myositis had common histologic characteristics, with endomysial and perimysial inflammatory infiltrate. The cellular infiltrate was composed predominantly of CD4+ T lymphocytes and B lymphocytes. The B and T CD4+ cells infiltrates may gather into masses, even forming lymphoid follicles. Three patients were treated with corticosteroids and/or hydroxychloroquine with improvement of myositis and 1 patient was lost to follow-up., Conclusions: We describe four patients with a common histologic appearance of myositis with lymphoid follicles associated with primary SS. The clinical presentation was non-specific and non-severe, with favorable outcome with corticosteroids and/or hydroxycholoroquine. The discovery of this particular histologic appearance in a muscle biopsy independent of the final diagnosis should indicate the possibility of SS., (Copyright © 2016 Elsevier B.V. All rights reserved.)
- Published
- 2017
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10. Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy.
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Nizon M, Cogne B, Vallat JM, Joubert M, Liet JM, Simon L, Vincent M, Küry S, Boisseau P, Schmitt S, Mercier S, Bénéteau C, Larrose C, Coste M, Latypova X, Péréon Y, Mussini JM, Bézieau S, and Isidor B
- Subjects
- Arthrogryposis physiopathology, Foot Deformities physiopathology, Genetic Predisposition to Disease, Homozygote, Humans, Infant, Infant, Newborn, Male, Muscle Hypotonia physiopathology, Mutation, Missense, Myelin Sheath genetics, Siblings, Arthrogryposis genetics, Cell Adhesion Molecules, Neuronal genetics, Foot Deformities genetics, Muscle Hypotonia genetics
- Abstract
Homozygous frameshift variants in CNTNAP1 have recently been reported in patients with arthrogryposis and abnormal axon myelination. In two brothers with severe congenital hypotonia and foot deformities, we identified compound heterozygous variants in CNTNAP1, reporting the first causative missense variant, p.(Cys323Arg). Motor nerve conductions were markedly decreased. Nerve microscopical lesions confirmed a severe hypomyelinating process and showed loss of attachment sites of the myelin loops on the axons, which could be a characteristic of Caspr loss-of-function. We discuss the pathophysiology of the myelination process and we propose to consider this disorder as a congenital hypomyelinating neuropathy.
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- 2017
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11. [Persistent myalgia in a 58-year-old man].
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Perrin F, Néel A, Magot A, Darrieutort C, Agard C, Mussini JM, Hamidou M, and Ackermann F
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- Humans, Hypothyroidism complications, Male, Middle Aged, Hypothyroidism diagnosis, Muscular Diseases etiology, Myalgia etiology
- Published
- 2015
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12. Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.
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Mercier S, Küry S, Salort-Campana E, Magot A, Agbim U, Besnard T, Bodak N, Bou-Hanna C, Bréhéret F, Brunelle P, Caillon F, Chabrol B, Cormier-Daire V, David A, Eymard B, Faivre L, Figarella-Branger D, Fleurence E, Ganapathi M, Gherardi R, Goldenberg A, Hamel A, Igual J, Irvine AD, Israël-Biet D, Kannengiesser C, Laboisse C, Le Caignec C, Mahé JY, Mallet S, MacGowan S, McAleer MA, McLean I, Méni C, Munnich A, Mussini JM, Nagy PL, Odel J, O'Regan GM, Péréon Y, Perrier J, Piard J, Puzenat E, Sampson JB, Smith F, Soufir N, Tanji K, Thauvin C, Ulane C, Watson RM, Khumalo NP, Mayosi BM, Barbarot S, and Bézieau S
- Subjects
- Adolescent, Adult, Amino Acid Sequence, Child, Child, Preschool, Contracture complications, Contracture diagnosis, Female, Humans, Infant, Male, Middle Aged, Molecular Sequence Data, Muscular Diseases complications, Muscular Diseases diagnosis, Mutation genetics, Pulmonary Fibrosis complications, Pulmonary Fibrosis diagnosis, Sclerosis complications, Sclerosis diagnosis, Skin Abnormalities complications, Skin Abnormalities diagnosis, Skin Diseases, Genetic complications, Skin Diseases, Genetic diagnosis, Cell Cycle Proteins genetics, Contracture genetics, Muscular Diseases genetics, Pulmonary Fibrosis genetics, Sclerosis genetics, Skin Abnormalities genetics, Skin Diseases, Genetic genetics, Tendons pathology
- Abstract
Background: Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma. Previously by using whole exome sequencing in five families, we identified the causative gene, FAM111B (NM_198947.3), the function of which is still unknown. Our objective in this study was to better define the specific features of POIKTMP through a larger series of patients., Methods: Clinical and molecular data of two families and eight independent sporadic cases, including six new cases, were collected., Results: Key features consist of: (i) early-onset poikiloderma, hypotrichosis and hypohidrosis; (ii) multiple contractures, in particular triceps surae muscle contractures; (iii) diffuse progressive muscular weakness; (iv) pulmonary fibrosis in adulthood and (v) other features including exocrine pancreatic insufficiency, liver impairment and growth retardation. Muscle magnetic resonance imaging was informative and showed muscle atrophy and fatty infiltration. Histological examination of skeletal muscle revealed extensive fibroadipose tissue infiltration. Microscopy of the skin showed a scleroderma-like aspect with fibrosis and alterations of the elastic network. FAM111B gene analysis identified five different missense variants (two recurrent mutations were found respectively in three and four independent families). All the mutations were predicted to localize in the trypsin-like cysteine/serine peptidase domain of the protein. We suggest gain-of-function or dominant-negative mutations resulting in FAM111B enzymatic activity changes., Conclusions: HFP with tendon contractures, myopathy and pulmonary fibrosis, is a multisystemic disorder due to autosomal dominant FAM111B mutations. Future functional studies will help in understanding the specific pathological process of this fibrosing disorder.
- Published
- 2015
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13. Muscle magnetic resonance imaging abnormalities in X-linked myopathy with excessive autophagy.
- Author
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Mercier S, Magot A, Caillon F, Isidor B, David A, Ferrer X, Vital A, Coquet M, Penttilä S, Udd B, Mussini JM, and Pereon Y
- Subjects
- Adolescent, Adult, Biopsy, Humans, Magnetic Resonance Imaging, Male, Muscle, Skeletal ultrastructure, Mutation genetics, Myopathies, Structural, Congenital genetics, Vacuolar Proton-Translocating ATPases genetics, Autophagy, Muscle, Skeletal pathology, Myopathies, Structural, Congenital pathology
- Abstract
Introduction: X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive myopathy due to recently reported mutations in the VMA21 gene., Methods: Four men from 2 separate families were studied. The clinical presentation, genetic data, muscle biopsy, and muscle MRI were analyzed., Results: A known VMA21 mutation, c.163+4A>G, and a new mutation, c.163+3A>G, respectively, were found in the 2 families. The clinical course was characterized by onset in childhood and progressive muscle weakness with a limb-girdle pattern. Muscle biopsy revealed a mild myopathy with an increased number of giant autophagic vacuoles. Whole-body muscle MRI showed that pelvic girdle and proximal thighs were the most and earliest affected territories, with sparing of rectus femoris muscles. Muscle changes essentially consisted of degenerative fatty replacement., Conclusions: This study highlights a distinctive MRI pattern of muscle involvement, which can be helpful for diagnosis of XMEA, even before muscle biopsy or genetic analysis., (© 2015 Wiley Periodicals, Inc.)
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- 2015
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14. Atypical nuclear abnormalities in a patient with Brody disease.
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Mussini JM, Magot A, Hantaï D, Sternberg D, Chevessier F, and Péréon Y
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- Adult, Follow-Up Studies, Humans, Male, Muscle Tonus, Mutation, Myotonia Congenita genetics, Sarcoplasmic Reticulum Calcium-Transporting ATPases genetics, Cell Nucleus pathology, Muscle, Skeletal ultrastructure, Myotonia Congenita pathology
- Abstract
Brody disease was first described as a benign pseudo-myotonic disorder with muscular stiffness, which increased with exercise. Biochemical and genetic studies have pointed out its close relationship to a functional defect of the fast-twitch sarcoplasmic reticulum Ca(++) ATPase pump (SERCA1) encoded by the ATP2A1 gene located on chromosome 16. The histopathological features in this form of myopathy were generally described as non-specific, i.e. moderate degree of type 2 fibre atrophy and excess of internal nuclei. We here present the clinical and histopathological features of a patient with Brody disease over a 19-year follow-up period. This patient had two heterozygous ATP2A1 mutations and complained about muscle stiffness immediately after effort. He had suffered from this since early childhood and exhibited clinical symptoms mimicking myotonia. Histological, ultrastructural and cytogenetic analyses revealed morphologically abnormal nuclei with polyploidy. In this report, we discuss the possible links between the consequences of the genetic abnormality and the peculiar aspect of the nuclei., (Copyright © 2015 Elsevier B.V. All rights reserved.)
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- 2015
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15. Subversion of human intestinal mucosa innate immunity by a Crohn's disease-associated E. coli.
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Jarry A, Crémet L, Caroff N, Bou-Hanna C, Mussini JM, Reynaud A, Servin AL, Mosnier JF, Liévin-Le Moal V, and Laboisse CL
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- Caspase 1 genetics, Caspase 1 immunology, Crohn Disease genetics, Crohn Disease immunology, Crohn Disease pathology, Epithelial Cells microbiology, Gene Expression Regulation, Humans, I-kappa B Proteins genetics, I-kappa B Proteins immunology, Immunity, Mucosal, Inflammasomes immunology, Interleukin-18 genetics, Interleukin-18 immunology, Intestinal Mucosa microbiology, Macrophages microbiology, NF-KappaB Inhibitor alpha, Phosphorylation, Signal Transduction, Tissue Culture Techniques, Transcription Factor RelA genetics, Transcription Factor RelA immunology, Tumor Necrosis Factor-alpha genetics, Tumor Necrosis Factor-alpha immunology, Crohn Disease microbiology, Epithelial Cells immunology, Immune Evasion, Immunity, Innate, Intestinal Mucosa immunology, Macrophages immunology, Salmonella immunology
- Abstract
Adherent-invasive Escherichia coli (AIEC), associated with Crohn's disease, are likely candidate contributory factors in the disease. However, signaling pathways involved in human intestinal mucosa innate host response to AIEC remain unknown. Here we use a 3D model of human intestinal mucosa explant culture to explore the effects of the AIEC strain LF82 on two innate immunity platforms, i.e., the inflammasome through evaluation of caspase-1 status, and NFκB signaling. We showed that LF82 bacteria enter and survive within a few intestinal epithelial cells and macrophages, without altering the mucosa overall architecture. Although 4-h infection with a Salmonella strain caused crypt disorganization, caspase-1 activation, and mature IL-18 production, LF82 bacteria were unable to activate caspase-1 and induce IL-18 production. In parallel, LF82 bacteria activated NFκB signaling in epithelial cells through IκBα phosphorylation, NFκBp65 nuclear translocation, and TNFα secretion. In addition, NFκB activation was crucial for the maintenance of epithelial homeostasis upon LF82 infection. In conclusion, here we decipher at the whole-mucosa level the mechanisms of the LF82-induced subversion of innate immunity that, by maintaining host cell integrity, ensure intracellular bacteria survival.
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- 2015
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16. Livedo-like dermatitis and necrotic lesions after high-dose buprenorphine injections: a national French survey.
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Wainstein L, Bernier C, Gérardin M, Bouquié R, Espitia O, Mussini JM, Jolliet P, and Victorri-Vigneau C
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- Adult, Buprenorphine administration & dosage, Female, France, Humans, Injections, Male, Middle Aged, Narcotic Antagonists administration & dosage, Necrosis chemically induced, Opiate Substitution Treatment adverse effects, Opioid-Related Disorders rehabilitation, Prospective Studies, Young Adult, Buprenorphine adverse effects, Narcotic Antagonists adverse effects, Nicolau Syndrome etiology, Skin pathology
- Published
- 2015
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17. Crushed and injected buprenorphine tablets: characteristics of princeps and generic solutions.
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Bouquié R, Wainstein L, Pilet P, Mussini JM, Deslandes G, Clouet J, Dailly E, Jolliet P, and Victorri-Vigneau C
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- Analgesics, Opioid adverse effects, Buprenorphine adverse effects, Dermatitis etiology, Drugs, Generic chemistry, Flow Cytometry, Humans, Injections, Subcutaneous, Lasers, Microscopy, Electron, Scanning, Particle Size, Skin pathology, Solutions chemistry, Substance-Related Disorders pathology, Analgesics, Opioid chemistry, Buprenorphine chemistry, Tablets chemistry
- Abstract
Self-injection of high-dose buprenorphine is responsible for well-described complications. In 2011, we have been alerted by unusual but serious cutaneous complication among injection buprenorphine users. A prospective data collection identified 30 cases of necrotic cutaneous lesions after injection of filtered buprenorphine solution, among which 25 cases occurred following injection of buprenorphine generics. The main goal of our study was to put forward particularities that could explain the cutaneous complications, by qualitatively and quantitatively confronting particles present in Subutex and generics solutions. We used the same protocol that injected-buprenorphine users: generic or subutex tablets were crushed in sterile water and filtered through 2 filters commonly used (cotton-pad and sterifilt). Solutions were analyzed by laser granulometry, flow cytometry and scanning electron microscopy. We have highlighted the wide variation of the quantity and the size of the particles present in solution between the two drugs after cotton-pad filtration. The proportion of particles <10 µm is systematically higher in the generic solutions than with Subutex. All of the insoluble particles found in generic solutions contain silica, whereas non- organic element was to be identified in the insoluble particles of Subutex. One skin biopsy obtained from one patient who developed a necrotic lesion after intravenous injection of filtrated solution of buprenorphine generic, shows non-organic elements. Identification of particles in situ enables us to confirm the presence of silica in the biopsy. Actually the monitoring of patient receiving generic of buprenorphine must be strengthened.
- Published
- 2014
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18. Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
- Author
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Laquérriere A, Maluenda J, Camus A, Fontenas L, Dieterich K, Nolent F, Zhou J, Monnier N, Latour P, Gentil D, Héron D, Desguerres I, Landrieu P, Beneteau C, Delaporte B, Bellesme C, Baumann C, Capri Y, Goldenberg A, Lyonnet S, Bonneau D, Estournet B, Quijano-Roy S, Francannet C, Odent S, Saint-Frison MH, Sigaudy S, Figarella-Branger D, Gelot A, Mussini JM, Lacroix C, Drouin-Garraud V, Malinge MC, Attié-Bitach T, Bessieres B, Bonniere M, Encha-Razavi F, Beaufrère AM, Khung-Savatovsky S, Perez MJ, Vasiljevic A, Mercier S, Roume J, Trestard L, Saugier-Veber P, Cordier MP, Layet V, Legendre M, Vigouroux-Castera A, Lunardi J, Bayes M, Jouk PS, Rigonnot L, Granier M, Sternberg D, Warszawski J, Gut I, Gonzales M, Tawk M, and Melki J
- Subjects
- Axons pathology, Axons ultrastructure, Female, Genetic Predisposition to Disease, Humans, Male, Microscopy, Electron, Transmission, Mutation genetics, Myelin Sheath pathology, Peripheral Nervous System pathology, Peripheral Nervous System ultrastructure, Pregnancy, Schwann Cells metabolism, Adenylyl Cyclases genetics, Arthrogryposis genetics, Arthrogryposis pathology, Cell Adhesion Molecules, Neuronal genetics
- Abstract
Non-syndromic arthrogryposis multiplex congenita (AMC) is characterized by multiple congenital contractures resulting from reduced fetal mobility. Genetic mapping and whole exome sequencing (WES) were performed in 31 multiplex and/or consanguineous undiagnosed AMC families. Although this approach identified known AMC genes, we here report pathogenic mutations in two new genes. Homozygous frameshift mutations in CNTNAP1 were found in four unrelated families. Patients showed a marked reduction in motor nerve conduction velocity (<10 m/s) and transmission electron microscopy (TEM) of sciatic nerve in the index cases revealed severe abnormalities of both nodes of Ranvier width and myelinated axons. CNTNAP1 encodes CASPR, an essential component of node of Ranvier domains which underlies saltatory conduction of action potentials along the myelinated axons, an important process for neuronal function. A homozygous missense mutation in adenylate cyclase 6 gene (ADCY6) was found in another family characterized by a lack of myelin in the peripheral nervous system (PNS) as determined by TEM. Morpholino knockdown of the zebrafish orthologs led to severe and specific defects in peripheral myelin in spite of the presence of Schwann cells. ADCY6 encodes a protein that belongs to the adenylate cyclase family responsible for the synthesis of cAMP. Elevation of cAMP can mimic axonal contact in vitro and upregulates myelinating signals. Our data indicate an essential and so far unknown role of ADCY6 in PNS myelination likely through the cAMP pathway. Mutations of genes encoding proteins of Ranvier domains or involved in myelination of Schwann cells are responsible for novel and severe human axoglial diseases.
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- 2014
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19. The spectrum of renal involvement in patients with inflammatory myopathies.
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Couvrat-Desvergnes G, Masseau A, Benveniste O, Bruel A, Hervier B, Mussini JM, Buob D, Hachulla E, Rémy P, Azar R, Namara EM, MacGregor B, Daniel L, Lacraz A, Broucker T, Rouvier P, Carli P, Laville M, Dantan E, Hamidou M, Moreau A, and Fakhouri F
- Subjects
- Acute Kidney Injury epidemiology, Adult, Aged, Biopsy, Female, France epidemiology, Humans, Kidney pathology, Kidney Diseases epidemiology, Kidney Diseases pathology, Male, Middle Aged, Myositis epidemiology, Renal Insufficiency, Chronic epidemiology, Retrospective Studies, Acute Kidney Injury etiology, Myositis complications, Renal Insufficiency, Chronic etiology
- Abstract
Data regarding the incidence and outcome of renal involvement in patients with inflammatory myopathies (IM) remain scarce. We assessed the incidence and causes of acute kidney injury (AKI) and chronic kidney disease (CKD) in 150 patients with dermatomyositis, polymyositis, and antisynthetase syndrome followed in 3 French referral centers. Renal involvement occurred in 35 (23.3%) patients: AKI in 16 (10.7%), and CKD in 31 (20.7%) patients. The main cause of AKI was drug or myoglobinuria-induced acute tubular necrosis. Male sex, cardiovascular risk factors, cardiac involvement, and initial proteinuria >0.3 g/d were associated with the occurrence of AKI. The outcome of patients with AKI was poor: 13 (81%) progressed to CKD and 2 (12.5%) reached end-stage renal disease. In multivariate survival analysis, age at IM onset, male sex, a history of cardiovascular events, and a previous episode of AKI were associated with the risk of CKD. We also identified 14 IM patients who underwent a kidney biopsy in 10 nephrology centers. Renal pathology disclosed a wide range of renal disorders, mainly immune-complex glomerulonephritis. We identified in 5 patients a peculiar pattern of severe acute renal vascular damage consisting mainly of edematous thickening of the intima of arterioles. We found that AKI and CKD are frequent in patients with IM. Prevention of AKI is crucial in these patients, as AKI is a major contributor to their relatively high risk of CKD. A peculiar pattern of acute vascular damage is part of the spectrum of renal diseases associated with IM.
- Published
- 2014
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20. Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.
- Author
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Mercier S, Küry S, Shaboodien G, Houniet DT, Khumalo NP, Bou-Hanna C, Bodak N, Cormier-Daire V, David A, Faivre L, Figarella-Branger D, Gherardi RK, Glen E, Hamel A, Laboisse C, Le Caignec C, Lindenbaum P, Magot A, Munnich A, Mussini JM, Pillay K, Rahman T, Redon R, Salort-Campana E, Santibanez-Koref M, Thauvin C, Barbarot S, Keavney B, Bézieau S, and Mayosi BM
- Subjects
- Adolescent, Adult, Child, Child, Preschool, Female, Humans, Infant, Infant, Newborn, Male, Pedigree, Phenotype, Rothmund-Thomson Syndrome diagnosis, Young Adult, Cell Cycle Proteins genetics, Contracture physiopathology, Muscular Diseases complications, Mutation, Pulmonary Fibrosis complications, Rothmund-Thomson Syndrome complications, Rothmund-Thomson Syndrome genetics, Tendons physiopathology
- Abstract
Congenital poikiloderma is characterized by a combination of mottled pigmentation, telangiectasia, and epidermal atrophy in the first few months of life. We have previously described a South African European-descent family affected by a rare autosomal-dominant form of hereditary fibrosing poikiloderma accompanied by tendon contracture, myopathy, and pulmonary fibrosis. Here, we report the identification of causative mutations in FAM111B by whole-exome sequencing. In total, three FAM111B missense mutations were identified in five kindreds of different ethnic backgrounds. The mutation segregated with the disease in one large pedigree, and mutations were de novo in two other pedigrees. All three mutations were absent from public databases and were not observed on Sanger sequencing of 388 ethnically matched control subjects. The three single-nucleotide mutations code for amino acid changes that are clustered within a putative trypsin-like cysteine/serine peptidase domain of FAM111B. These findings provide evidence of the involvement of FAM111B in congenital poikiloderma and multisystem fibrosis., (Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)
- Published
- 2013
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21. Inflammatory myopathy presenting as head drop.
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Riaudel T, Khatchatourian L, Chevalet P, Pichierri S, Mussini JM, and Berrut G
- Subjects
- Adrenal Cortex Hormones therapeutic use, Aged, 80 and over, Autoimmune Diseases diagnosis, Female, Humans, Muscular Atrophy, Spinal drug therapy, Myositis drug therapy, Posture physiology, Muscular Atrophy, Spinal diagnosis, Myositis diagnosis
- Published
- 2013
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22. Skin patch, polyneuropathy, and paraproteinemia.
- Author
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Néel A, Hello M, Barbarot S, Jossic F, Masseau A, Espitia O, Mussini JM, Moreau P, Musset L, and Hamidou M
- Subjects
- Biopsy, Cell Proliferation, Edema etiology, Hepatomegaly etiology, Humans, Hyperpigmentation etiology, Immunoglobulin G blood, Lower Extremity, Male, Middle Aged, Mobility Limitation, Plasma Cells pathology, Ribs pathology, Skin pathology, Vascular Endothelial Growth Factor A blood, Hyperpigmentation pathology, Paraproteinemias diagnosis, Polyneuropathies diagnosis
- Published
- 2012
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23. [Progressive neuropathy in a 60-year-old man].
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Néel A, Hello M, Barbarot S, Mussini JM, Jossic F, Dupas B, Espitia O, Masseau A, Hamidou M, and Lazaro E
- Subjects
- Disease Progression, Humans, Male, Middle Aged, POEMS Syndrome diagnosis
- Published
- 2011
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24. [Longitudinal myelitis in systemic lupus erythematosus].
- Author
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Perrin F, Espitia O, Ponge T, Mussini JM, Hamidou M, and Agard C
- Subjects
- Adult, Cyclophosphamide therapeutic use, Female, Glucocorticoids therapeutic use, Humans, Immunosuppressive Agents therapeutic use, Magnetic Resonance Imaging, Myelitis diagnosis, Myelitis drug therapy, Myelitis immunology, Prognosis, Spinal Puncture, Treatment Outcome, Lupus Erythematosus, Systemic complications, Myelitis etiology, Quadriplegia etiology
- Abstract
Introduction: Myelitis occurs in less than 5% of the patients during the disease course of systemic lupus erythematosus (SLE). Longitudinal myelitis, characterized by inflammatory involvement of at least four medullar segments, is a particular form of myelitis., Case Report: We report a 31-year-old woman with SLE, admitted for paraparesia and delirium. Lumbar puncture and MRI led to the diagnosis of longitudinal myelitis. The patient rapidly improved after corticosteroid therapy., Conclusion: Transverse myelitis in SLE patients has been already commonly reported, but longitudinal myelitis is uncommon. Longitudinal myelitis has to be suspected in case of paraplegia or tetraplegia, with sensory defects and bladder dysfunction. MRI shows typically T2 medullar hypersignals. This may result in neurologic sequela. Cyclophosphamide has been used in patients where corticosteroids were inefficient., (Copyright © 2011 Société nationale française de médecine interne (SNFMI). Published by Elsevier SAS. All rights reserved.)
- Published
- 2011
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25. Use of muscle biopsies for diagnosis of systemic vasculitides.
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Hervier B, Durant C, Masseau A, Ponge T, Hamidou M, and Mussini JM
- Subjects
- Adult, Aged, Aged, 80 and over, Female, Humans, Male, Middle Aged, Predictive Value of Tests, Retrospective Studies, Biopsy, Muscle, Skeletal pathology, Muscle, Skeletal surgery, Systemic Vasculitis diagnosis, Systemic Vasculitis pathology, Systemic Vasculitis surgery
- Abstract
Objective: Few studies have investigated the use of muscle biopsies (MB) for the diagnosis of systemic vasculitides (SV). We aimed to evaluate the diagnostic use of MB in this condition., Methods: We reviewed 310 consecutive MB performed in our center between 2000 and 2008 and correlated them with clinical data from the corresponding patients. Thirty-one of the patients, representing a total of 33 MB, were diagnosed with active SV. MB were considered positive when they demonstrated either necrotizing vasculitis or nonnecrotizing vasculitis., Results: Twenty-two of the 33 MB were positive (sensitivity of 66.7%), with necrotizing vasculitis and nonnecrotizing vasculitis being equally frequent. The SV were antineutrophil cytoplasmic antibody (ANCA)-associated in 22 patients (71%), and ANCA-negative in 9 cases (29%). Neither the type nor the clinical spectrum of the SV was predictive of MB positivity. None of the muscle symptoms (myalgias or biological rhabdomyolysis) were correlated with MB positivity. All the biopsies were performed uneventfully., Conclusion: The feasibility and positive predictive value of MB make it a valuable tool for ruling out a diagnosis of SV. Since no clinical signs could predict its positivity, MB should be considered in all suspected cases of SV. Unlike other biopsies, including kidney biopsy, MB had no prognostic value.
- Published
- 2011
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26. A monoclonal antibody to O-acetyl-GD2 ganglioside and not to GD2 shows potent anti-tumor activity without peripheral nervous system cross-reactivity.
- Author
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Alvarez-Rueda N, Desselle A, Cochonneau D, Chaumette T, Clemenceau B, Leprieur S, Bougras G, Supiot S, Mussini JM, Barbet J, Saba J, Paris F, Aubry J, and Birklé S
- Subjects
- Apoptosis drug effects, Cell Line, Tumor, Cell Survival drug effects, Humans, In Vitro Techniques, Neuroblastoma metabolism, Peripheral Nervous System pathology, Antibodies, Monoclonal immunology, Antibodies, Monoclonal pharmacology, Gangliosides immunology, Peripheral Nervous System drug effects
- Abstract
Background: Monoclonal antibodies (mAb) against GD2 ganglioside have been shown to be effective for the treatment of neuroblastoma. Beneficial actions are, however, associated with generalized pain due to the binding of anti- GD2 mAbs to peripheral nerve fibers followed by complement activation. Neuroblastoma cells that express GD2 also express its O-acetyl derivative, O-acetyl- GD2 ganglioside (OAcGD2). Hence, we investigated the distribution of OAcGD2 in human tissues using mAb 8B6 to study the cross-reactivity of mAb 8B6 with human tissues., Methodology/principal Findings: The distribution of OAcGD2 was performed in normal and malignant tissues using an immunoperoxydase technique. Anti-tumor properties of mAb 8B6 were studied in vitro and in vivo in a transplanted tumor model in mice. We found that OAcGD2 is not expressed by peripheral nerve fibers. Furthermore, we demonstrated that mAb 8B6 was very effective in the in vitro and in vivo suppression of the growth of tumor cells. Importantly, mAb 8B6 anti-tumor efficacy was comparable to that of mAb 14G2a specific to GD2., Conclusion/significance: Development of therapeutic antibodies specific to OAcGD2 may offer treatment options with reduced adverse side effects, thereby allowing dose escalation of antibodies.
- Published
- 2011
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27. [Management of muscle and nerve biopsies: expert guidelines from two French professional societies, Société française de myologie et de l'Association française contre les myopathies].
- Author
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Uro-Soste E, Fernandez C, Authier FJ, Bassez G, Butori C, Chapon F, Delisle MB, Dubourg O, Feasson L, Gherardi R, Lacroix C, Laquerriere A, Letournel F, Magy L, Maisonobe T, Marcorelles P, Maurage CA, Mezin P, Mussini JM, Penisson-Besnier I, Romero NB, Streichenberger N, Vallat JM, Viennet G, Vital A, Voit T, Boucharef W, and Figarella-Branger D
- Subjects
- Biopsy methods, Fixatives, Glutaral, Humans, Immunohistochemistry, Paraffin Embedding, Biopsy standards, Muscle, Skeletal pathology, Peripheral Nerves pathology
- Published
- 2010
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- View/download PDF
28. Late-onset cervicoscapular muscle atrophy and weakness after radiotherapy for Hodgkin disease: a case series.
- Author
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Furby A, Béhin A, Lefaucheur JP, Beauvais K, Marcorelles P, Mussini JM, Bassez G, Créange A, Eymard B, and Pénisson-Besnier I
- Subjects
- Action Potentials physiology, Adult, Aged, Female, Humans, Male, Middle Aged, Muscle Weakness pathology, Muscle Weakness physiopathology, Muscular Atrophy pathology, Muscular Atrophy physiopathology, Neural Conduction physiology, Time Factors, Hodgkin Disease radiotherapy, Muscle Weakness etiology, Muscular Atrophy etiology, Neck Muscles pathology, Neck Muscles physiopathology, Neck Muscles radiation effects
- Abstract
Patients with cervical or mediastinal Hodgkin disease (HD) classically underwent chemotherapy plus extended-field radiation therapy. We report six patients who gradually developed severe atrophy and weakness of cervical paraspinal and shoulder girdle muscles 5-30 years after mantle irradiation for HD. Although clinical presentation was uniform, including a dropped head syndrome, electrophysiological and pathological findings were rather heterogeneous. Either neurogenic or myogenic processes may be involved and sometimes combined. We discuss the pathophysiological mechanisms underlying these cervicoscapular motor complications of mantle irradiation in HD.
- Published
- 2010
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29. Long-term efficacy of mycophenolate mofetil in a case of refractory antisynthetase syndrome.
- Author
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Hervier B, Masseau A, Mussini JM, Audrain M, and Hamidou MA
- Subjects
- Adult, C-Reactive Protein metabolism, Cyclosporine therapeutic use, Diabetes Mellitus, Type 1 complications, Humans, Immunoglobulins, Intravenous therapeutic use, Male, Methotrexate therapeutic use, Mycophenolic Acid therapeutic use, Raynaud Disease complications, Immunosuppressive Agents therapeutic use, Mycophenolic Acid analogs & derivatives, Protoporphyria, Erythropoietic drug therapy
- Published
- 2009
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- View/download PDF
30. A new MPZ mutation associated with a mild CMT1 phenotype presenting with recurrent nerve compression.
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Magot A, Latour P, Mussini JM, Mourtada R, Guiheneuc P, and Pereon Y
- Subjects
- Adult, Charcot-Marie-Tooth Disease complications, Codon, Terminator genetics, DNA Mutational Analysis methods, Exons, Family Health, Female, Follow-Up Studies, Humans, Male, Middle Aged, Nerve Compression Syndromes etiology, Neural Conduction physiology, Tyrosine genetics, Charcot-Marie-Tooth Disease genetics, Mutation, Myelin P0 Protein genetics, Nerve Compression Syndromes genetics, Phenotype
- Abstract
P0 is a transmembrane protein of the immunoglobulin superfamily that plays a role in myelin structure and function. Myelin protein zero gene (MPZ) mutations usually cause a demyelinating variant of Charcot-Marie-Tooth disease type 1B (CMT1B), but there is a wide spectrum of phenotypic manifestation of these mutations. We describe three patients from one family and one separate patient who presented with a demyelinating neuropathy. Some had recurrent lesions at compression sites mimicking hereditary neuropathy with liability to pressure palsies (HNPP). A heterozygous nonsense mutation (Tyr145Stop) corresponding to a T-to-A transition at nucleotide position 435 in exon 3 of the MPZ gene was identified in all patients. This mutation leads to an extracellular truncated protein, which may explain the mild phenotype. Therefore, such MPZ gene mutations should be searched for in cases of demyelinating neuropathy with acute nerve compression as well as in cases of the HNPP phenotype associated with normal the PMP22 gene.
- Published
- 2008
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31. Distal inflammatory myopathy: unusual presentation of polymyositis or new entity?
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Dimitri D, Dubourg O, Maisonobe T, Fournier E, Ranque B, Laforêt P, Mussini JM, Pagnoux C, Béhin A, Papo T, Benveniste O, Eymard B, and Herson S
- Subjects
- Antigens, CD metabolism, Electromyography methods, Female, Humans, Male, Middle Aged, Muscle, Skeletal pathology, Muscle, Skeletal physiopathology, Myositis pathology, Polymyositis pathology, Retrospective Studies, Myositis complications, Polymyositis etiology
- Abstract
New classification of idiopathic inflammatory myopathy (IIM) defined three major entities, polymyositis (PM), dermatomyositis (DM) and sporadic inclusion body myositis (s-IBM). We report the clinical, electrophysiological and pathological characteristics of three patients with a rare form of IIM not fulfilling the diagnostic criteria for any of these three major entities. The three patients presented with a subacute, distal asymmetrical weakness in upper limbs. Muscle biopsy showed an active myositis, with necrosis and regeneration, T cell infiltrates with invasion of non-necrotic fibers, without rimmed vacuoles, and diffuse major histocompatibility complex-I (MHC-I) immunostaining in muscle fibers. All patients responded to immunosuppressive agents. Seven others cases were identified in the literature. It is important to recognize this atypical presentation as it seems to respond to immunosuppressive agents.
- Published
- 2008
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32. The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.
- Author
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Fischer J, Lefèvre C, Morava E, Mussini JM, Laforêt P, Negre-Salvayre A, Lathrop M, and Salvayre R
- Subjects
- Cells, Cultured, DNA Mutational Analysis, Female, Humans, Lipase, Mutation, Phospholipases A chemistry, Phospholipases A metabolism, RNA Interference, Transfection, Lipidoses genetics, Muscular Diseases genetics, Phospholipases A genetics
- Abstract
Neutral lipid storage disease comprises a heterogeneous group of autosomal recessive disorders characterized by systemic accumulation of triglycerides in cytoplasmic droplets. Here we report a neutral lipid storage disease subgroup characterized by mild myopathy, absence of ichthyosis and mutations in both alleles of adipose triglyceride lipase (PNPLA2, also known as ATGL). Three of these mutations are predicted to lead to a truncated ATGL protein with an intact patatin domain containing the active site, but with defects in the hydrophobic domain. The block in triglyceride degradation was mimicked by short interfering RNA directed against ATGL. NLSDM is distinct from Chanarin-Dorfman syndrome, which is characterized by neutral lipid storage disease with ichthyosis, mild myopathy and hepatomegaly due to mutations in ABHD5 (also known as CGI-58).
- Published
- 2007
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33. [Deafness, diabetes and cancer: chance association or etiological link?].
- Author
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Ciubotaru V, Poinsignon Y, Bellané-Chantelot C, Saout L, Mussini JM, and Klein V
- Subjects
- Colonic Pseudo-Obstruction, Female, Humans, Magnetic Resonance Imaging, Middle Aged, Mitochondrial Myopathies, Deafness etiology, Diabetes Mellitus, Type 2 complications, Neoplasms complications
- Published
- 2006
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- View/download PDF
34. Intravenous cyclophosphamide in refractory polyneuropathy associated with IgM monoclonal gammopathy: an uncontrolled open trial.
- Author
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Hamidou MA, Belizna C, Wiertlewsky S, Audrain M, Biron C, Grolleau JY, and Mussini JM
- Subjects
- Female, Humans, Injections, Intravenous, Male, Middle Aged, Prospective Studies, Pulse Therapy, Drug, Treatment Outcome, Cyclophosphamide administration & dosage, Immunoglobulin M immunology, Paraproteinemias complications, Polyneuropathies drug therapy
- Published
- 2005
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- View/download PDF
35. [Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations].
- Author
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Ben Yaou R, Bécane HM, Demay L, Laforet P, Hannequin D, Bohu PA, Drouin-Garraud V, Ferrer X, Mussini JM, Ollagnon E, Petiot P, Penisson-Besnier I, Streichenberger N, Toutain A, Richard P, Eymard B, and Bonne G
- Subjects
- Adolescent, Adult, Aged, Arrhythmias, Cardiac etiology, Arrhythmias, Cardiac physiopathology, Biomarkers, Creatine Kinase blood, Echocardiography, Electrocardiography, Female, Heart Conduction System physiopathology, Heart Diseases diagnostic imaging, Heart Diseases etiology, Heart Diseases genetics, Humans, Lamin Type A, Male, Middle Aged, Muscle, Skeletal diagnostic imaging, Muscle, Skeletal pathology, Muscular Dystrophies, Limb-Girdle complications, Mutation genetics, Mutation physiology, Pedigree, Phenotype, Tomography, X-Ray Computed, Lamins genetics, Muscular Dystrophies, Limb-Girdle genetics, Muscular Dystrophies, Limb-Girdle physiopathology, Neural Conduction physiology
- Abstract
Introduction: Limb girdle muscular dystrophy type 1b (LGMD1B), due to LMNA gene mutations, is a relatively rare form of LGMD characterized by proximal muscle involvement associated with heart involvement comprising atrio-ventricular conduction blocks and dilated cardiomyopathy. Its clinical and genetic diagnosis is crucial for cardiac management and genetic counselling. Seven LMNA mutations have been previously reported to be responsible for LGMD1B., Patients and Methods: We describe the neurological and cardiologic features of 14 patients belonging to 8 families in whom we identified 6 different LMNA mutations, 4 of them having never been reported. Results. Eleven patients had an LGMD1B phenotype with scapulohumeral and pelvic-femoral involvement. Thirteen patients had cardiac disease associating conduction defects (12 patients) or arrhythmias (9 patients). Seven patients needed cardiac device (pacemaker or implantable cardiac defibrillator) and two had heart transplantation., Conclusion: This study allowed us to specify the clinical characteristics of this entity and to outline the first phenotype/genotype relations resulting from these observations.
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- 2005
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36. [Antisynthetase syndrome. Three cases and a review of the literature].
- Author
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Imbert-Masseau A, Hamidou M, Agard C, Halloun A, Delangle MH, Audrain M, Grolleau JY, and Mussini JM
- Subjects
- Adult, Aged, Female, Humans, Male, Middle Aged, Syndrome, Antibodies, Antinuclear, Arthritis, Ligases immunology, Lung Diseases, Interstitial, Myositis, Raynaud Disease
- Abstract
Antisynthetase syndrome belongs to the idiopathic myositis group which includes pulmonary interstitial disease, arthritis, Raynaud's phenomenon, and mechanic's hands , associated with the anti-Jo1 antibody. We report three cases of antisynthetase syndrome, and review the clinical characteristics, and prognosis factors dominated by interstitial pneumonia.
- Published
- 2003
37. In situ immunophenotype of the inflammatory infiltrate in eosinophilic fasciitis.
- Author
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Toquet C, Hamidou MA, Renaudin K, Jarry A, Foulc P, Barbarot S, Laboisse C, and Mussini JM
- Subjects
- CD4-CD8 Ratio, CD8-Positive T-Lymphocytes immunology, CD8-Positive T-Lymphocytes metabolism, Granzymes, Humans, Macrophages immunology, Muscle Fibers, Skeletal immunology, Muscle Fibers, Skeletal pathology, Serine Endopeptidases metabolism, Eosinophils immunology, Fasciitis immunology, Fasciitis pathology, Immunophenotyping methods
- Abstract
Objective: Eosinophilic fasciitis (EF) is histologically characterized by a fibrous and inflammatory thickening of subcutaneous septal-fascial-perimysial collagenous scaffold. This study aims to define the immunophenotype of inflammatory cells of fascia and muscle underlying the in situ immune response in EF., Methods: In 11 cases of EF, we determined the phenotype of inflammatory cells, expression of MHC class I and class II antigens, and C5b9 membranolytic attack complex (MAC) deposits by immunohistochemistry analysis of fascia tissue. Muscle biopsies from 9 patients with active dermatomyositis and 5 with active polymyositis were used as controls. Results. In all patients but one, the inflammatory infiltrate was mainly composed of macrophages associated with CD8+ T lymphocytes (CD4/CD8 ratio < 1) and few eosinophils. Cytotoxic properties were found in 14% of CD8+ T lymphocytes, as shown by granzyme B expression. MHC Class I antigens were overexpressed (5/7) by muscle fibers, with a paratrabecular reinforcement in 4 cases. MHC class II antigens were not expressed by muscle fibers except in one case. C5b9 MAC deposits were not detected., Conclusion: Our in situ characterization of inflammatory infiltrate demonstrates the predominancy of macrophages and CD8+ T lymphocytes. Some of these CD8+ lymphocytes contain granzyme B, thus suggesting a cytotoxic cellular immune response in EF, which could be triggered by infectious or environmental agents.
- Published
- 2003
38. Neurophysiological investigation of neurological complication after regional anaesthesia.
- Author
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Péréon Y, Nguyen The Tich S, Mussini JM, Charles F, and Malinovsky JM
- Subjects
- Adult, Electromyography, Evoked Potentials, Female, Humans, Pregnancy, Anesthesia, Conduction adverse effects, Anesthesia, Obstetrical adverse effects, Spinal Nerves injuries
- Published
- 2002
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- View/download PDF
39. Extracorporeal photochemotherapy for secondary chronic progressive multiple sclerosis: a pilot study.
- Author
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Besnier DP, Chabannes D, Mussini JM, Dupas B, and Esnault VL
- Subjects
- Adult, Chronic Disease, Disease Progression, Female, Humans, Male, Middle Aged, Pilot Projects, Multiple Sclerosis drug therapy, Photopheresis
- Abstract
Background/purpose: Extracorporeal photochemotherapy (ECP) has been proposed for the treatment of various auto- and allo-immune reactions. However, a standard ECP regimen did not significantly alter the course of chronic progressive multiple sclerosis (MS). We tested whether an intensive ECP treatment can affect the course of secondary chronic progressive form of MS., Methods: Five patients free of immunosuppression were included. Soluble 8-MOP was added ex vivo to a mononuclear cell suspension obtained in a cell separator. This cellular suspension was then irradiated using an UVA irradiator and re-infused into the patient. ECP was performed once a week for 6 weeks and then, depending on clinical evaluation, for a maximum of 6 months, with 2-year follow-up after treatment discontinuation. Scoring was performed with the Kurzke scale and EDSS by a single independent neurologist., Results: One patient was excluded because of recurrent attacks at the very beginning of treatment. Four patients completed the study: one exhibited clinical improvement and three remained stable during the first 6 months of treatment. However, all experienced relapse or worsening of the disease after discontinuation of ECP treatment., Conclusion: Our intensive ECP treatment only transiently alters the course of the severe secondary chronic progressive form of MS, with rebound after treatment discontinuation.
- Published
- 2002
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40. [Macrophagic myofasciitis. Study and Research Group on Acquired and Dysimmunity-related muscular diseases (GERMMAD)].
- Author
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Chérin P, Laforêt P, Ghérardi RK, Authier FJ, Maisonobe T, Coquet M, Mussini JM, Pellissier JF, Eymard B, and Herson S
- Subjects
- Adult, Aged, Biopsy, Clinical Enzyme Tests, Creatine Kinase blood, Diagnosis, Differential, Female, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Muscle Weakness etiology, Muscle, Skeletal pathology, Muscular Diseases etiology, Muscular Diseases pathology, Pain etiology, Fasciitis diagnosis, Fasciitis etiology, Fasciitis pathology, Macrophages, Muscular Diseases diagnosis
- Abstract
Unlabelled: MACROPHAGIC MYOFASCIITIS: A most unusual inflammatory myopathy, first described by Germmad had been reported with increasing frequency since 1993 in the leading French myopathology centers. We present our experience with this new disease: macrophagic myofasciitis., Clinical Features: By November 1999, 70 cases of macrophagic myofasciitis had been recorded since our first description. The first 22 patients (sex ratio M/F = 1:3) referred with the presumptive diagnosis of polymyositis (n = 11), polymyalgia rheumatica (n = 5), mitochondrial cytopathy (n = 4), and congenital myopathy or muscle dystrophy (n = 1 each). Symptoms included myalgia (91%), anthralgia (68%), marked asthenia (55%), muscle weakness (45%), and fever (32%)., Laboratory Findings: Abnormal laboratory findings included elevated CK levels (50%), markedly increased erythrocyte sedimentation rate (37%), and myopathic EMG (35%). Muscle biopsy showed a unique myopathological pattern characterized by: i) centripetal infiltration of epimysium, perimysium and perifascicular endomysium by sheets of large cells of the monocyte/macrophage lineage (CD68+, CD1a-, S100-, with a PAS-positive content; ii) absence of necrosis, of both epithelioid and giant cells, and of mitotic figures; iii) presence of occasional CD8+ T-cells; iv) inconspicuous muscle fiber damage. The picture was easily distinguishable from sarcoid myopathy and fasciitis-panniculitis syndromes. The infectious diseases know to be associated with reactive histiocytes, including Whippleís disease, Mycobacterium avium intracellulare infection and malakoplakia, could not be documented. Patients improved under corticosteroid therapy and/or immunomodulatory therapeutic, Conclusion: A new inflammatory muscle disorder, characterized by a distinctive pathological pattern of macrophagic myofasciitis is emerging in France.
- Published
- 2000
41. Marked systemic amyloid angiopathy in patients with val 107 transthyretin mutation.
- Author
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Authier FJ, Lechapt-Zalcman E, Mussini JM, Plante-Bordeneuve V, Eizenbaum JF, Jacobson DR, and Gherardi RK
- Abstract
We report three non-inbred patients with Val 107 transthyretin (TTR) amyloidosis. Clinical features were remarkable by the combination of peripheral polyneuropathy, carpal tunnel syndrome, cardiomyopathy, and epilepsy. Pathologic examination disclosed unusual striking systemic amyloid angiopathy in all studied tissues including nerve, muscle, gut, lung, salivary glands, and synovial membrane. It appears that the rare TTR Val 107 variant causes a peculiar familial amyloid syndrome characterized by both widespread systemic TTR amyloidosis and central nervous system deposition sufficient to cause seizures, pointing out the extent of TTR amyloidosis phenotypic heterogeneity.
- Published
- 1999
- Full Text
- View/download PDF
42. Chester-Erdheim disease: a neoplastic disorder.
- Author
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Chetritt J, Paradis V, Dargere D, Adle-Biassette H, Maurage CA, Mussini JM, Vital A, Wechsler J, and Bedossa P
- Subjects
- Adult, Clone Cells, DNA analysis, Female, Humans, Middle Aged, Receptors, Androgen genetics, Bone Diseases genetics, Bone Diseases pathology, Histiocytosis, Non-Langerhans-Cell genetics, Histiocytosis, Non-Langerhans-Cell pathology
- Abstract
Chester-Erdheim disease is a rare non-langerhans cell histiocytosis characterized by a xanthomatous infiltration of foamy macrophages. The cause and pathogenesis remain unclear. The aim of the present study was to determine whether Chester-Erdheim disease is a polyclonal reactive disease or a clonal neoplastic disorder. The clonal status of samples obtained from five patients with Chester-Erdheim disease was studied. DNA was extracted from fixed and paraffin-embedded sections after microdissection and clonal status was studied using the Xchromosome inactivation pattern of the human androgen receptor gene (HUMARA assay). One patient was homozygous for the HUMARA gene and noninformative. Three other cases were monoclonal. One was polyclonal, and this case showed a dense reactive infiltrate in association with spumous macrophages. This study suggests strongly that Chester-Erdheim disease is a monoclonal lesion consistent with neoplastic disorder. Thus, Chester-Erdheim disease may be considered as the "macrophage" counterpart of Langerhan's cell histiocytosis in the histiocytosis spectrum. Further studies are needed to establish the origin of this clonal proliferation.
- Published
- 1999
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- View/download PDF
43. [Macrophagic myofasciitis: description and etiopathogenic hypotheses. Study and Research Group on Acquired and Dysimmunity-related Muscular Diseases (GERMMAD) of the French Association against Myopathies (AFM)].
- Author
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Chérin P, Laforet P, Ghérardi RK, Authier FJ, Coquet M, Maisonobe T, Mussini JM, Pellissier JF, and Herson S
- Subjects
- Adult, Aged, Biopsy, Clinical Enzyme Tests, Creatine Kinase analysis, Diagnosis, Differential, Electromyography, Fascia pathology, Fasciitis etiology, Fasciitis pathology, Female, Fructose-Bisphosphate Aldolase analysis, Histiocytosis diagnosis, Humans, Magnetic Resonance Imaging, Male, Microscopy, Electron, Middle Aged, Muscles enzymology, Muscles pathology, Myositis etiology, Myositis pathology, Fasciitis diagnosis, Macrophages ultrastructure, Myositis diagnosis
- Abstract
Purpose: A new type of inflammatory myopathy of unknown etiology has recently been described in France. The myopathy, called macrophagic myofasciitis, had never been described in the literature., Methods: In December 1998, 35 cases of macrophagic myofasciitis were reported, showing an increase in its incidence since the description of the first case in 1993. The first 22 cases are described., Results: The 22 patients were each referred with a presumptive diagnosis of either polymyositis (11 patients), polymyalgia rheumatica (5 patients), mitochondrial cytopathy (4 patients), or congenital myopathy or muscle dystrophy (1 patient for each). Clinical symptoms included myalgias (91%), arthralgias (68%), marked asthenia (55%), muscle weakness (45%), and fever (32%). Laboratory findings included elevated CK levels (50%) and a marked increased in the erythrocyte sedimentation rate (37%). Electromyographic recordings showed the existence of myopathy (35%). Muscle biopsy showed a unique pattern characterized by: (i) centripetal infiltration of the epimysium, perimysium and perifascicular endomysium by non epitheloid, cells of the monocyte/macrophage lineage (CD68+, CD1a-, S100-) with both large cytoplasm and PAS-positive content; (ii) absence of necrosis, of both epithelioid and giant cells, and of mitotic figures; (iii) occasional CD8+ T-cells; and, (iiii) minimal myocyte suffering. The disease symptoms were easily distinguishable from those of sarcoid myopathy and fasciitis-panniculitis syndromes. Infectious diseases known to be associated with reactive histiocytosis, including Whipple's disease, Mycobacterium avium intracellulare infection and malakoplakia, could not be documented. Patients' condition improved under corticosteroid therapy, associated or not with non-specific antibiotic therapy., Conclusion: A new inflammatory muscle disorder of unknown etiology, characterized by a distinctive pathological pattern of macrophagic myofasciitis, is emerging in France. Diagnosis is based on muscular biopsy. Numerous clinical, epidemiological and etiopathologic studies initiated by the GERMMAD (Groupe d'études et de recherche sur les maladies musculaires acquises) are in progress.
- Published
- 1999
- Full Text
- View/download PDF
44. Macrophagic myofasciitis: an emerging entity. Groupe d'Etudes et Recherche sur les Maladies Musculaires Acquises et Dysimmunitaires (GERMMAD) de l'Association Française contre les Myopathies (AFM).
- Author
-
Gherardi RK, Coquet M, Chérin P, Authier FJ, Laforêt P, Bélec L, Figarella-Branger D, Mussini JM, Pellissier JF, and Fardeau M
- Subjects
- Adult, Aged, Arthralgia diagnosis, Asthenia diagnosis, Biopsy, Blood Sedimentation, CD8-Positive T-Lymphocytes pathology, Connective Tissue pathology, Creatine Kinase blood, Diagnosis, Differential, Electromyography, Fasciitis pathology, Female, Fever diagnosis, France, Histiocytes pathology, Humans, Male, Middle Aged, Muscle Fibers, Skeletal pathology, Muscle Weakness diagnosis, Myofibrils pathology, Myositis pathology, Pain diagnosis, Periodic Acid-Schiff Reaction, Polymyalgia Rheumatica diagnosis, Polymyositis diagnosis, Retrospective Studies, Fasciitis diagnosis, Macrophages pathology, Myositis diagnosis
- Abstract
Background: An unusual inflammatory myopathy characterised by an infiltration of non-epithelioid histiocytic cells has been recorded with increasing frequency in the past 5 years in France. We reassessed some of these cases., Methods: We did a retrospective analysis of 18 such cases seen in five myopathology centres between May, 1993, and December, 1997. The myopathological changes were reassessed at a clinopathology seminar., Findings: Detailed clinical information was available for 14 patients. The main presumptive diagnoses were polymyositis and polymyalgia rheumatica. Symptoms included myalgias in 12 patients, arthralgias in nine, muscle weakness in six, pronounced asthenia in five, and fever in four. Abnormal laboratory findings were occasionally observed, and included raised creatine kinase concentrations, increased erythrocyte sedimentation rate, and myopathic electromyography. Muscle biopsy showed infiltration of the subcutaneous tissue, epimysium, perimysium, and perifascicular endomysium by sheets of large macrophages, with a finely granular PAS-positive content. Also present were occasional CD8 T cells, and inconspicuous muscle-fibre damage. Epithelioid and giant cells, necrosis, and mitotic figures were not seen. The images were easily distinguishable from sarcoid myopathy and fasciitis-panniculitis syndromes. Whipple's disease, Mycobacterium avium intracellulare infection, and malakoplakia could not be confirmed. Ten patients were treated with various combinations of steroids and antibiotics; symptoms improved in eight patients, and stabilised in two., Interpretation: A new inflammatory muscle disorder of unknown cause, characterised by a distinctive pathological pattern of macrophagic myofasciitis, is emerging in France.
- Published
- 1998
- Full Text
- View/download PDF
45. Neurotoxicological assessment after intracisternal injection of liposomal bupivacaine in rabbits.
- Author
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Malinovsky JM, Benhamou D, Alafandy M, Mussini JM, Coussaert C, Couarraze G, Pinaud M, and Legros FJ
- Subjects
- Anesthetics, Local administration & dosage, Animals, Blood-Brain Barrier drug effects, Bupivacaine administration & dosage, Drug Carriers, Injections, Spinal, Liposomes, Necrosis, Rabbits, Spinal Cord pathology, Anesthetics, Local toxicity, Bupivacaine toxicity, Spinal Cord drug effects
- Abstract
Unlabelled: Experiments were performed on rabbits randomly assigned to intracisternally receive 0.3 mL of plain bupivacaine 5 mg/mL, liposomal bupivacaine 5 mg/mL, bupivacaine-free liposomes, or isotonic phosphate-buffered saline. Mechanical ventilation was initiated or intravenous dopamine was infused when respiratory depression or hypotension occurred. Seven days after the injection, the whole spinal cord was removed and histopathologic characteristics were studied on transverse sections. All preparations were devoid of phosphatidylcholine hydrolysis or oxidation compounds. Solutions without bupivacaine produced transient irritative signs that required sedation in most rabbits. Despite the similar duration of respiratory depression in groups receiving liposomal or plain bupivacaine, liposomes produced significantly prolonged motor blockade (126 vs 70 min). Correction of hypotension after plain bupivacaine required a longer dopamine infusion and larger doses than after liposomal bupivacaine (28 vs 18 min and 74 vs 47 mg). Necrosis was observed in the cervical area of two rabbits (one in the liposomal bupivacaine group and another in the phosphate buffer group). No demyelinated areas were noted in spinal cord examinations. We conclude that liposomal bupivacaine leads to a less severe sympathetic block and to a prolonged motor block, whereas histologic changes are not significantly different among groups., Implications: Multilamellar liposomes containing bupivacaine administered intracisternally to rabbits produce spinal cord histopathologic changes not significantly different from those observed with plain bupivacaine. Sustained release of bupivacaine from liposomes is suggested by the prolonged motor blockade and the reduced severity of arterial hypotension. Use of these liposomes could prolong the local anesthetic effects of bupivacaine.
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- 1997
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46. Pathology of the central nervous system in Chester-Erdheim disease: report of three cases.
- Author
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Adle-Biassette H, Chetritt J, Bergemer-Fouquet AM, Wechsler J, Mussini JM, and Gray F
- Subjects
- Adult, Bone and Bones diagnostic imaging, Female, Histiocytosis, Non-Langerhans-Cell diagnosis, Humans, Magnetic Resonance Imaging, Middle Aged, Radiography, Brain pathology, Histiocytosis, Non-Langerhans-Cell pathology
- Abstract
Chester-Erdheim disease is a rare form of non-Langerhans cell histiocytosis consisting of disseminated xanthogranulomatous infiltration and fibrosis that primarily involves the bones, visceral organs and systemic fatty spaces. Involvement of the central nervous system is variable, and neuropathological features have seldom been documented. We report the neuropathological findings in 3 autopsy cases. One patient had radiological and pathological bone changes characteristic of Chester-Erdheim disease. Neuropathology revealed multiple characteristic xanthogranulomas disseminated in the cerebral hemispheres, hypothalamus, cerebellum, and brainstem. The second patient presented first with cutaneous lesions characteristic of Langerhans cell histiocytosis. She subsequently developed bone abnormalities suggestive of Chester-Erdheim disease, which was confirmed by autopsy, raising the possibility of a common spectrum of histiocytosis including both diseases. Gross examination of the brain was normal, however, microscopy showed infiltration of the brain by characteristic non-Langerhans cell xanthogranulomas. The third patient presented with systemic features characteristic of Chester-Erdheim disease. Neurological signs included gait disturbance, seizures and confusion. Examination of the brain did not show any histiocytic infiltration, but did show changes suggestive of Hallervorden-Spatz syndrome. Association of Chester-Erdheim disease and Hallervorden-Spatz syndrome has not been previously reported. The relationship between both conditions is unclear.
- Published
- 1997
- Full Text
- View/download PDF
47. Treatment of graft-versus-host disease by extracorporeal photochemotherapy: a pilot study.
- Author
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Besnier DP, Chabannes D, Mahé B, Mussini JM, Baranger TA, Muller JY, Milpied N, and Esnault VL
- Subjects
- Acute Disease, Adolescent, Adult, Child, Chronic Disease, Cytapheresis standards, Evaluation Studies as Topic, Female, Humans, Male, PUVA Therapy methods, Pilot Projects, Cytapheresis methods, Graft vs Host Disease drug therapy
- Abstract
Background: Graft-versus-host disease (GVHD) is a major complication after bone marrow transplantation, which may be refractory to immunosuppressive drugs. As preliminary case reports suggested that extracorporeal photochemotherapy (ECP) using a Therakos device might be beneficial, we conducted a pilot study to assess the efficacy and safety of a new ECP method that does not require administration of 8-methoxypsoralen (8-MOP) to the patient., Methods: ECP was performed three times a week for 3 weeks and then tapered according to the patient's course. Soluble 8-MOP was added ex vivo to an enriched mononuclear cell suspension obtained by a cell separator. This cellular suspension was then ultraviolet A irradiated and reinfused into the patient. Evaluation was performed using specific objective tests depending on clinical conditions., Results: The two patients in the study with acute GVHD and severe liver dysfunction resistant to steroid pulse showed no improvement with ECP treatment. The five patients with chronic GVHD (c-GVHD) had the following clinical features: three patients had myositis and two patients had severe cutaneous c-GVHD, including one patient with sclerodermoid lesions, one with bronchiolitis obliterans, one with bronchitis, and one with liver involvement. Immunosuppressive drugs were either prohibited or ineffective. The number of procedures for each patient ranged from 13 to 30. Cytapheresis required the use of a double-lumen catheter (4/5) or an arteriovenous fistula (1/5). No side effects were related to 8-MOP or ultraviolet A irradiation. Four of five patients improved after ECP; one patient with bronchiolitis obliterans, a fibrotic condition, remained stable., Conclusions: ECP treatment may be helpful for the treatment of severe c-GVHD and the avoidance of increased immunosuppression.
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- 1997
- Full Text
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48. Enalapril-induced vasculitis resembling rheumatoid arthritis, lupus, sicca syndrome, and giant cell arteritis.
- Author
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Berthelot JM, Moreau A, Glémarec J, Mussini JM, Maugars Y, and Prost A
- Subjects
- Aged, Diagnosis, Differential, Female, Follow-Up Studies, Giant Cell Arteritis chemically induced, Giant Cell Arteritis diagnosis, Hand, Humans, Lupus Vulgaris diagnosis, Sjogren's Syndrome diagnosis, Vasculitis chemically induced, Antihypertensive Agents adverse effects, Arthritis, Rheumatoid diagnosis, Enalapril adverse effects, Vasculitis diagnosis
- Abstract
We report a case of vasculitis in a 67-year-old woman who successively developed over a four-month period clinical manifestations suggestive of rheumatoid arthritis, lupus, sicca, syndrome and finally giant cell arteritis. All her symptoms resolved promptly upon discontinuation of enalapril and none recurred over the five-year follow-up period. The only residual manifestation is Jaccoud's arthropathy of the hands.
- Published
- 1997
49. A prospective study of criteria for the diagnosis of toxoplasmic encephalitis in 186 AIDS patients. The BIOTOXO Study Group.
- Author
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Raffi F, Aboulker JP, Michelet C, Reliquet V, Pelloux H, Huart A, Poizot-Martin I, Morlat P, Dupas B, Mussini JM, and Leport C
- Subjects
- Adult, Diagnosis, Differential, Encephalitis complications, Female, Humans, Male, Multivariate Analysis, Prospective Studies, Toxoplasmosis complications, AIDS-Related Opportunistic Infections diagnosis, Encephalitis diagnosis, Toxoplasmosis diagnosis
- Abstract
Objective: To define the factors associated with diagnosis of toxoplasmic encephalitis (TE) in AIDS patients; and to establish a rational procedure for the clinician faced with a decision concerning empiric antitoxoplasma therapy., Design: A 15-month prospective multicentre cohort study in France., Methods: One hundred and eighty-six consecutive HIV-positive inpatients undergoing empiric antitoxoplasma therapy for a first episode of presumed TE were monitored. The clinician's initial estimation of the probability of response to antitoxoplasma therapy was recorded. In addition, a validation committee classified cases as TE or non-TE., Results: Among the 186 patients, the following variables were significantly more frequent in TE (n = 113) than non-TE (n = 73) patients: fever (59% versus 40%). headache (55% versus 33%), seizures (22% versus 11%), suggestive lesions on the brain scan (98% versus 76%), positive Toxoplasma serology (97% versus 71%). Median CD4+ lymphocyte count was significantly higher in TE than in non-TE (27 x 10(6)/l versus 11 x 10(6)/l). The rate of TE in patients on systemic antiprotozoal prophylaxis at entry was 43% as compared with 75% in patients without previous prophylaxis. Pre-therapy estimation of response to empiric therapy was highly correlated with final diagnosis. Multivariate logistic regression analysis showed that the following variables contributed independently to the diagnosis of TE: clinician's estimation of response to treatment at entry > 75%; absence of systemic antiprotozoal prophylaxis; seizures; headache; suggestive lesions on CT or MRI brain scan; and positive Toxoplasma serology., Conclusions: A linear logistic model is proposed which uses significant variables, which are readily available. This model gives good accuracy to classify suspected cases of TE.
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- 1997
- Full Text
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50. Long-term prognosis of 69 patients with dermatomyositis or polymyositis.
- Author
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Maugars YM, Berthelot JM, Abbas AA, Mussini JM, Nguyen JM, and Prost AM
- Subjects
- Adolescent, Adult, Aged, Aged, 80 and over, Cause of Death trends, Child, Dermatomyositis complications, Dermatomyositis therapy, Disease Progression, Female, Follow-Up Studies, Humans, Male, Middle Aged, Polymyositis complications, Polymyositis therapy, Prognosis, Proportional Hazards Models, Retrospective Studies, Risk Factors, Survival Analysis, Survival Rate, Dermatomyositis mortality, Polymyositis mortality
- Abstract
Objectives: To assess the long-term prognosis of dermatomyositis and pol myositis., Methods: 69 patients with dermatomyositis or polymyositis were selected according to the diagnostic criteria of Bohan and Peter and were followed up for a minimum of 6.3 years (for surviving patients) (mean 11.6 years). Clinical and biological features, and pulmonary and muscle parameters were considered as prognostic factors for death. Functional disability was assessed using a 4-stage grading system., Results: 30 deaths (43.5%) occurred mainly due to cardiovascular (8), pulmonary (8), carcinomatous (5) and iatrogenic complications (5). Survival rates were 82.6% at 1 year, 73.9% at 2.66, 7% at 5 and 55.4% at 9. Significant prognostic factors for death (Cox model with time-dependent covariates) were old age (p < 0.0001), dysphonia (p < 0.001), pulmonary interstitial fibrosis (p < 0.02), absence of dysphagia (p < 0.02) and asthenia-anorexia (p < 0.05). Dermatomyositis and polymyositis subgroups had slightly different significant prognostic factors for death: old age, cancer, pulmonary interstitial fibrosis and asthenia-anorexia for dermatomyositis; old age, failure to improve muscle strength in response to treatment after one month, and the absence of myalgia as presenting symptom for polymyositis. At the end of the follow-up, 33/39 surviving patients (84.6%) had no or insignificant muscular disability, whereas 3 children were bedridden due to generalized calcinosis., Conclusions: High mortality occurred in the first year, and the survival rate decreased continually up to 9 years. The main prognostic factor for death is old age, but dermatomyositis and polymyositis must be considered separately. General features (pulmonary fibrosis, cancer, asthenia-anorexia) are involved in dermatomyositis, whereas muscular symptoms are the most significant in polymyositis. The long-term functional prognosis was fairly good, except for generalized calcinosis, which tended to occur in childhood dermatomyositis.
- Published
- 1996
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