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  • 1
    Electronic Resource
    Electronic Resource
    (CTG)"n Triplet Mutation and Phenotype Manifestations in Myotonic Dystrophy Patients
    Amsterdam : Elsevier
    Biochemical Medicine and Metabolic Biology 50 (1993), S. 85-92 
    Details
    ISSN: 0885-4505
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1006/bmmb.1993.1049
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  • 2
    Electronic Resource
    Electronic Resource
    A case of persistent thyrotoxic myopathy (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 623-624 
    Details
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01957924
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  • 3
    Electronic Resource
    Electronic Resource
    Acetylcholinesterase assay may predict cognitive response of Alzheimer patients to eptastigmine treatment (1998)
    Springer
    European journal of clinical pharmacology 54 (1998), S. 809-810 
    Details
    ISSN: 1432-1041
    Keywords: Key words Acetylcholinesterase ; Eptastigmine ; ADAS-Cog ; Cholinesterase inhibition
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s002280050556
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  • 4
    Electronic Resource
    Electronic Resource
    A case of persistent thyrotoxic myopathy (1996)
    Springer
    European journal of pediatrics 155 (1996), S. 623-624 
    Details
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01957924
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  • 5
    Electronic Resource
    Electronic Resource
    Heat shock protein 72 in cardiac and skeletal muscles during hypertension (1995)
    Springer
    Molecular and cellular biochemistry 146 (1995), S. 1-6 
    Details
    ISSN: 1573-4919
    Keywords: heat shock protein ; hypertension ; aging ; myocardium ; skeletal muscle
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Chemistry and Pharmacology , Medicine
    Notes: Abstract In order to elucidate the relationship between hypertension and hypertrophy in the production of heat shock proteins, we studied the induction of the HSP72 synthesis by the heart and gracilis muscles of normo (WKY) and hypertensive (SHR) rats subjected to hyperthermia (42°C±0.5 for 15 min). Two age groups were investigated in each strain: young (2 months, with developing cardiac hypertrophy) and old (18 months, with fully developed chronic cardiac hypertrophy). The gracilis muscle never developed hypertrophy, independently of hypertension or aging. 72 kDa inducible protein was determined by Western blot analysis using a specific monoclonal antibody. We also used a commercial standard, loaded on each blot, to quantitate densitometrically the signal. The heart of young SHR responds to heat shock more than their normotensive age-matched control (298.8±24.7% vs 88.3 ±8.5%, p〈0.001). This response is not maintained during aging as we did not find any significant difference between normo-and hypertensive old rats after exposure to hyperthermia (43.6±5.3% vs 65.3±10.4%). Unlike the heart, the gracilis muscle shows a basal spontaneous HSP72 synthesis in both the SHR (71.4±10.8%) and WKY (40.6±11.7%) animals. There was a significant increase in HSP72 synthesis in the gracilis muscle of young SHR with respect to their control (186.2±18.7% vs 115.8±9.9%, p〈0.02) which was maintained also during aging (171.9±17.3% vs 95.2±10.5%, p〈0.01). In conclusion, these data show that hypertension results in an increased synthesis of HSP72 both in cardiac and gracilis muscle in response to heat shock. This abnormal response is attenuated by aging in the heart but not in the gracilis muscle. Thus, the abnormality seems to be independent from hypertrophy and linked to genetic determination of the disease.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00926874
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  • 6
    Electronic Resource
    Electronic Resource
    Myopathy in long-term AZT therapy: Clinical, electrophysiological and biopsy study in 67 HIV+subjects (1993)
    Springer
    Neurological sciences 14 (1993), S. 369-374 
    Details
    ISSN: 1590-3478
    Keywords: HIV ; AZT ; mitochondrial myopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario Il manifestarsi di patologie muscolari in soggetti in terapia con AZT è stato valutato in una popolazione di 67 pazienti ambulatoriali sieropositivi (56 in trattamento con AZT ed 11 soggetti di controllo non in terapia) che partecipavano ad uno studio longitudinale di follow-up neurologico clinico e paraclinico. In ogni soggetto sono stati effettuati l'esame elettromiografico standard e l'elettrodiagnostico, nonché la determinazione degli enzimi muscolari, tutti ripetuti nel tempo ad intervalli fissi; in 11 pazienti è state inoltre eseguita una biopsia muscolare. Una miopatia correlata all'AZT è stata riscontrata in 8 casi sottoposti a biopsia muscolare; altri 9 pazienti sono stati considerati affetti da miopatia da AZT sulla base di criteri clinici, elettromiografici ed ex-iuvantibus). L'analisi statistica ha mostrato che la durata del trattamento appare avere un'importanza maggiore rispetto ai dosaggi nel determinare la comparsa della miopatia, benché in rari casi non si possa escludere una predisposizione individuale. Il rischio di sviluppare una miopatia tossica deve pertanto essere preso in considerazione quando si valutano gli effetti della terapia a lungo termine con AZT.
    Notes: Abstract The occurrence of muscular pathologies in AZT treated subjects has been evaluated in 67 HIV seropositive outpatients (56 AZT-treated and 11 untreated controls) in a neurological clinical and paraclinical follow-up study. Standard electromyographic and electrodiagnostic examinations, together with muscle enzyme determination, were performed in every subject, and periodically repeated at fixed intervals; in 11 patients a muscle biopsy sample was also obtained. An AZT-related myopathy was diagnosed in 8 biopsied cases; 9 more patients were considered to have AZT myopathy on clinical, EMG and ex juvantibus criteria. Statistical analysis showed that treatment duration was more relevant to the development of the myopathy than AZT dosage, though an individual predisposition could not be excluded, at least in a small number of cases. The risk of developing a toxic myopathy will therefore have to be considered when evaluating long-term effects of AZT therapy.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02340724
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  • 7
    Electronic Resource
    Electronic Resource
    Increased serum levels of ICAM-1, ELAM-1 and TNF-α in inflammatory disorders of the peripheral nervous system (1994)
    Springer
    Neurological sciences 15 (1994), S. 267-271 
    Details
    ISSN: 1590-3478
    Keywords: Guillain-Barré syndrome ; chronic inflammatory demyelinating polyradiculopathy ; cryoglobulinemic neuropathy ; ICAM-1 ; ELAM-1 ; TNF-α
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario L'infiltrazione leucocitaria nelle aree di infiammazione viene mediata dalle molecole di adesione ICAM-1 (intercellular adhesion molecule-1) ed ELAM-1 (E-selectin). In corso di disordini infiammatori del SNC vi è un marcato incremento sierico di ICAM-1. In questo studio abbiamo dosato i livelli sierici di ICAM-1, ELAM-1 e TNF-α (tumor necrosis factor-α) in pazienti con neuropatia crioglobulinemica (CGN) e poliradicolonevrite acuta (AIDP) e cronica (CIDP). Dosaggi immunoenzimatici hanno evidenziato un incremento di sICAM-1 in alcuni pazienti con tali patologie; inoltre in 2 pazienti con AIDP ed in 1 paziente con CGN sono stati rilevati elevati titoli di ELAM-1 e TNF-α. I nostri dati ampliano le osservazioni precedenti riguardo ai disordini infiammatori del SNP, dimostrando che ELAM-1, insieme a ICAM-1, può essere un utile marker di attivazione endoteliale e che entrambi possono servire come indicatori di meccanismi patogenetici specifici.
    Notes: Abstract Endothelial intercellular adhesion molecule-1 (ICAM-1) and glycoprotein E-selectin (ELAM-1) allow the homing of leukocytes to inflammation sites. A circulating form of ICAM-1 markedly increases in inflammatory CNS disorders. In the present study, the serum levels of ICAM-1, ELAM-1 and tumor necrosis factor-α (TNF-α) were measured in patients with acute (AIDP) and chronic (CIDP) inflammatory demyelinating polyneuropathies and cryoglobulinemic neuropathy (CGN). Immunoenzymometric assays revealed increased sICAM-1 levels in some of these patients; furthermore, high titres of ELAM-1 and TNF-α were detected in two patients with AIDP and one patient with CGN. Our data extend previous observations on inflammatory PNS disorders by showing that, in addition to ICAM-1, ELAM-1 also represents a useful marker of endothelial activation and that, taken together, the two molecules may serve as an indicator of specific pathogenetic mechanisms.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02339236
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  • 8
    Electronic Resource
    Electronic Resource
    AZT-induced mitochondrial myopathy (1992)
    Springer
    Neurological sciences 13 (1992), S. 723-728 
    Details
    ISSN: 1590-3478
    Keywords: AIDS ; AZT ; mitochondrial myopathy ; cytochrome c oxidase ; succinate cytochrome c reductase ; type 2 fiber atrophy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario Sono state esaminate le biipsie muscolari di 11 pazienti affetti da AIDS in trattamento con Zidovudina. Si è riscontrato una caratteristica associazione di anormalità strutturali delle fibre e di disfunzione mitocondriale. Un deficit focale di citocromo c ossidasi (COX) era presente nelle sezioni muscolari di nove pazienti, otto dei quali avevano subito un trattamento di lunga durata, mentre uno era stato trattato solo per un mese. La microscopia elettronica mostrava modificazioni della struttura, del numero e volume dei mitocrondri. Le indagini biochimiche hanno evidenziato un deficit parziale di COX e di succinato citocromo c reduttasi (SCR) di quattro pazienti, mentre in un paziente riduzione di attività della sola SCR. I nostri dati confermano che la terapia con AZT può causare una miopatia tossica con disfunzione dei mitocondri.
    Notes: Abstract Histochemical, electron microscopy and biochemical studies were performed on muscle biopsy specimens from 11 AIDS patients treated with zidovudine. A peculiar association of structural abnormalities and mitochondrial dysfunction was found. Focal cytochrome c oxidase (COX) deficiency was evident in muscle sections from 9 patients, 8 of whom had received long-term treatment while one had been treated for 1 month only. Electron microscopy showed changes in number, size and structure of mitochondria. Biochemical studies proved partial COX and succinate cytochrome c reductase (SCR) deficiency in 4 patients; one patient had only reduced SCR activity. Our data confirm that AZT therapy can cause toxic myopathy with mitochondrial dysfunction.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02229156
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  • 9
    Electronic Resource
    Electronic Resource
    Congenital muscular dystrophy and cerebellar vermis agenesis in two brothers (1988)
    Springer
    Neurological sciences 9 (1988), S. 485-489 
    Details
    ISSN: 1590-3478
    Keywords: Congenital muscular dystrophy ; cerebellar vermis agenesis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario Vengono riportati due fratelli con un ritardo motorio sin dai primi mesi di vita, andatura anserino-atassica, lordosi lombare, limitazioni articolari, debolezza muscolare diffusa, prove cerebellari alterate e parola scandita. La creatinchinasi, l'elettomiografia e la biopsia muscolare hanno evidenziato un coinvolgimento muscolare, mentre la tomografia computerizzata e la risonanza magnetica nucleare hanno mostrato una agenesia vermiana del cervelletto. Sulla base di questi dati abbiamo attribuito questa sintomatologia alla presenza simultanea di agenesia vermiana e di distrofia muscolare congenita.
    Notes: Abstract Two brothers with motor retardation since the first months of life presented waddling ataxic-gait with lumbar lordosis, joint contractures and generalized muscle weakness. Both presented altered cerebellar tests and scanning speech. Creatine kinase, electromyography (EMG) and muscle biopsy pointed to muscular disease while CT scanning and NMR imaging showed cerebellar vermis agenesis. On this evidence we diagnosed the unusual association of vermian agenesis and congenital muscular dystrophy.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02337167
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  • 10
    Electronic Resource
    Electronic Resource
    Anatomical and clinical study of a case of subacute encephalomyelitis with hyperekplexia syndrome (1988)
    Springer
    Neurological sciences 9 (1988), S. 505-508 
    Details
    ISSN: 1590-3478
    Keywords: Hyperekplexia ; viral encephalomyelitis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario Si riportano le osservazioni clinico-patologiche in un caso di encefalomielite subacuta con sindrome tipo Hyperekplexia, caratterizzata sul piano istopatologico da marcati infiltrati linfomonocitari, noduli di microglia, aspetti di neuronofagia. Tali reperti sono suggestivi di infezione virale. L'elettiva localizzazione delle lesioni a carico della sostanza grigia del midollo spinale, del tegmento bulbo-pontino e di alcuni nuclei del sistema extrapiramidale fornisce il substrato fisiopatologico delle peculiari caratteristiche cliniche di tale encefalomielite.
    Notes: Abstract This case of subacute encephalomyelitis with a hyperekplexia type syndrome was characterized histologically by marked lymphomonocytic infiltrates, nodules of microglia, evidence of neuronophagia These findings suggested a viral infection. The clinical peculiarities of this encephalomyelitis are explained by the elective site of the lesions in the grey substance of the spinal cord, of the tegmentum of the medulla oblongata and pons and of some nuclei of the extrapyramidal system.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02337170
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