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  • 1
    Electronic Resource
    Electronic Resource
    Multifactorial study of inflammatory myopathies. Report of 29 cases (1993)
    Springer
    Neurological sciences 14 (1993), S. 69-76 
    Details
    ISSN: 1590-3478
    Keywords: Inflammatory myopathies ; polymyositis ; dermatomyositis ; therapy ; immunohistochemistry ; MHC-molecules
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario È stata condotta una valutazione comparativa di tipo clinico, immunopatologico e terapeutico di 17 pazienti affetti da Polimiosite (PM) e 12 affetti da Dermatomiosite (DM), seguiti presso il nostro Centro. Nello studio di queste miopatie infiammatorie è stato utilizzato un criterio diagnostico multifattoriale clinico-bioumorale con diversi parametri immunologici ed immunoistopatologico sulla biopsia, valutando la risposta terapeutica durante un follow-up longitudinale con uno score clinico-funzionale composito. La DM può essere distinta dai segni clinici e dalle anomalie patologiche; si ritiene attualmente che essa sia il risultato di una vasculopatia. Sulle biopsie muscolari sono stati caratterizzati con anticorpi monoclonali, le sottopopolazioni di linfociti T (CD4, CD8), i macrofagi, IgG, IgM, le frazioni C1q, C3, C4 del Complemento, gli antigeni di istocompatibilità MHC-I ed MHC-II. Nelle PM l'immunità cellulo mediata era più pronunciata ed in alcuni casi, l'espressione di MHC-I ed MHC-II era osservabile anche sulla superficie ed all'interno di fibre muscolari. I pazienti sono stati trattati, con steroidi e nei casi non responsivi, con aggiunta di azatioprina, ciclofosfamide, plasmaferesi, alte dosi di immunoglobuline endovena ed irradiazione “total body”.
    Notes: Abstract We made a comparative clinical, immunopathological and therapeutic evaluation in 17 patients with polymyositis (PM) and 12 patients with dermatomyositis (DM), followed up at our Neuromuscular Center. DM can be distinguished by its clinical appearance and pathological changes. Current evidence suggests that it results from vasculopathy. For studying these inflammatory myopathies we used multifactorial diagnostic criteria, evaluating the therapeutic response by means of a composite clinical and functional score in a longitudinal study. In muscle biopsy specimens we characterized with monoclonal antibodies T lymphocyte subpopulations (CD4, CD8), macrophages, IgG, IgM, C1q, C3, C4 complement fractions, MHC-I, MHC-II. In PM the cell-mediated immunity was more pronounced and in sowithin muscle fibers. Our patients were treated with steroids; in resistant cases azathioprine, cyclophosphamide, plasmapheresis, high-dose intravenous immunoglobulins (ivIgG) and total body irradiation were added to the therapeutic schedule.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02339045
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  • 2
    Electronic Resource
    Electronic Resource
    Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q (1990)
    [s.l.] : Nature Publishing Group
    Nature 344 (1990), S. 767-768 
    Details
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/344767a0
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  • 3
    Electronic Resource
    Electronic Resource
    A multicentre follow-up study of 1152 patients with myasthenia gravis in Italy (1990)
    Springer
    Journal of neurology 237 (1990), S. 339-344 
    Details
    ISSN: 1432-1459
    Keywords: Myasthenia gravis ; Multicentre follow-up study
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A multicentre retrospective study was carried out on the characteristics and course of myasthenia gravis (MG) in Italy. Data from 1152 patients, fairly representative of the myasthenic population seeking medical advice, were analysed for diagnostic criteria, clinical aspects and therapeutic approaches. Mean follow-up was 4.9 years. The disease was correctly diagnosed within 2 years of the onset in 80% of cases. Onset of symptoms peaked in the second and third decade in females and fell between 20 and 59 years in males. At first observation 87% of the patients had generalized MG. Maximal worsening was observed within 3 years in 77% of patients. At the last follow-up, 35% of cases were symptom-free (pharmacological remission 24%, remission without treatment 11%). The more severe the disease at the first observation and at the maximal worsening of symptoms, the lower was the proportion of remissions. Steroids were given in 54% and immunosuppressants in 18%. Thymectomy was performed in 72%, mostly in women, younger than age 40, and with generalized MG. Thymectomy seemed to improve the course of the disease, mostly in patients operated on shortly after diagnosis and those with generalized mild-to-moderate disease and with a normally involuted thymus. MG was lethal in 4% of patients, principally men, older than 40, in grade 3 or worse at first observation, with a short history of disease, and with thymona.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00315656
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  • 4
    Electronic Resource
    Electronic Resource
    Cognitive and psychiatric evaluation of 40 patients with myotonic dystrophy (1992)
    Springer
    Neurological sciences 13 (1992), S. 53-58 
    Details
    ISSN: 1590-3478
    Keywords: Myotonic dystrophy ; cognitive function ; psychiatric diagnosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario Abbiamo valutato, in 40 pazienti affetti da forma severa di distrofia miotonica (MD), i disturbi cognitivi e i sintomi psichiatrici mediante test neuropsicologici (WAIS-R, MMSE) e mediante intervista semistrutturata e scala di autovalutazione (SADS, SRT). Come controllo abbiamo utilizzato 20 controlli sani. I pazienti con MD avevano punteggi significativamente più bassi di QI totale (p〈0.001), Verbale (p〈0.001) e non-Verbale (p〈0.001) del WAIS-R e al MMSE (p〈0.05) rispetto ai controlli. Il trentacinque per cento dei pazienti aveva una diagnosi psichica, di cui 17.5% avevano disturbi depressivi. I nostri dati confermano che i disturbi cognitivi e psichiatrici sono una manifestazione clinica importante nella distrofia miotonica.
    Notes: Abstract We evaluated 40 patients suffering from a severe form a myotonic dystrophy (MD) with neuropsychological (WAIS-R, MMSE) and psychiatric tests (SADS, SRT) for the assessment of cognitive and psychiatric symptoms. We tested 20 normal volunteers as control group. Patients with MD scored significantly, lower on WAIS Full Scale (p〈0.001), Verbal Scale (p〈0.001), and Performance Scale (p〈0.001) and on the MMSE (p〈0.05) than the controls. 35% of patients met the Research Diagnostic Criteria for a psychiatric diagnosis; 17.5% of them had a depressive disorder. The scores on SADS subscales and on the SRT scale of depression were also significantly higher in patients than in controls. Our data confirm that mental impairment and psychiatric disorders are important clinical manifestations of CNS dysfunction in the severe form on MD.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02222889
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    Paper (German National Licenses)
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