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  • 1
    Electronic Resource
    Electronic Resource
    Saethre-Chotzen syndrome: a clinical, EEG and neuroradiological study (1996)
    Springer
    Child's nervous system 12 (1996), S. 699-704 
    Details
    ISSN: 1433-0350
    Keywords: Saethre-Chotzen syndrome ; EEG ; Seizures ; CT scan ; MRI
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Saethre-Chotzen syndrome is a form of acrocephalosyndactyly with autosomal dominant inheritance, characterized by craniosynostosis, facial asymmetry, palpebral ptosis, deviated nasal septum, partial cutaneous syndactyly, and various skeletal abnormalities. We studied in detail the neurological, EEG, and neuroradiological features of a group of 11 (6 male, 5 female) patients with Saethre-Chotzen syndrome. Four subjects were affected by seizures; they had paroxysmal EEG abnormalities, and gross neuroimaging revealed destructive brain lesions or malformations. Our findings suggest that CNS involvement in Saethre-Chotzen syndrome might be more severe than previously reported and support the wider use of neurophysiological and neuroimaging techniques in the study of children with this syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00366154
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Seizures in Klinefelter's syndrome: A clinical and EEG study of five patients (1995)
    Springer
    Neurological sciences 16 (1995), S. 231-238 
    Details
    ISSN: 1590-3478
    Keywords: Klinefelter's syndrome ; epilepsy ; epileptiform EEG abnormalities ; genetics ; brain imaging
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario In questo studio sono riportati 5 pazienti con sindrome di Klinefelter e crisi epilettiche o anomalie parossistiche all'EEG. In 4 soggetti il cariotipo era 47,XXY mentre in uno esso era 47,XXY/46,XX. L'età dei pazienti era compresa tra 13 e 25 anni; tutti sono stati seguiti nel tempo da un punto di vista clinico ed EEGrafico. Due pazienti erano affetti da epilessia, uno aveva presentato una crisi generalizzata tonico-clonica isolata, uno aveva presentato convulsioni febbrili e uno mostrava solo anomalie parossistiche focali all'EEG senza aver mai apparentemente presentato crisi. In due pazienti è stato possibile classificare l'epilessia (epilessia dell'infanzia a parossismi occipitali ed epilessia generalizzata criptogenetica o sintomatica). Sebbene il pattern elettroclinico nei nostri pazienti sembri piuttosto eterogeneo, è possibile inferire una certa benignità del quadro epilettologico nella sindrome di Klinefelter.
    Notes: Abstract In this study, we report the cases of five unrelated patients with Klinefelter's syndrome and seizures or EEG epileptiform abnomalities; the karyotype was 47,XXY in four, and 47,XXY/46,XX in one. They were aged 13–25 years and followed up both clinically and by means of EEG. Two of the patients had epilepsy, one had only one isolated generalized tonic-clonic seizure, one had febrile convulsions and one presented focal epileptiform EEG abnormalities without seizures. In two of the patients, it was possible to classify the epilepsy (childhood epilepsy with occipital paroxysms and cryptogenic or symptomatic generalized epilepsy). Although the electroclinical patterns appeared to be rather heterogeneous in our patients, it is possible to infer the relative good evolution of seizures in Klinefelter's syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02282994
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Age, sex and mental retardation related changes of brainstem auditory evoked potentials in Down's syndrome (1995)
    Springer
    Neurological sciences 16 (1995), S. 377-383 
    Details
    ISSN: 1590-3478
    Keywords: brainstem auditory evoked potentials ; Down's syndrome ; age ; sex ; mental retardation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario I potenziali evocati auditivi tronco-encefalici (BAEP), registrati in 51 pazienti con sindrome di Down (SD), sono stati messi a confronto con quelli ottenuti in 38 soggetti normali di controllo. In seguito è stata valutata la correlazione tra i parametri dei BAEP con l'età, il sesso e il grado di ritardo mentale. I pazienti con SD mostravano una riduzione significativa della latenza e dell'ampiezza dell'onda V e della lunghezza dell'intervallo I–V, rispetto ai controlli. Una ulteriore riduzione età correlata dell'intervallo I–V è stata osservata nei pazienti con SD; questa è stata interpretata come il risultato di modificazioni dei meccanismi inibitori/eccitatori centrali. Le femmine con SD presentavano un intervallo I–V più breve di quello dei maschi in maniera più evidente che nella popolazione normale. Inoltre, i pazienti con ritardo mentale più grave mostravano un intervallo I–V significativamente più prolungato di quelli con ritardo mentale medio; questo potrebbe essere dovuto alla presenza di anomalie strutturali aggiuntive nei soggetti più compromessi.
    Notes: Abstract Brainstem auditory evoked potentials (BAEPs) were recorded in 51 Down's syndrome (DS) subjects and compared with those of 38 normal controls; the correlations between the BAEP measures and age, sex, and degree of mental retardation were then evaluated. The DS patients showed a significant reduction in wave V latency and amplitude and in I–III, III–V, and I–V interpeak intervals. An age-related shortening of the I–V interpeak interval found in DS patients was interpreted as being a result of changes in central inhibitory/excitatory mechanisms. In both groups, female subjects presented an I–V interval shorter than that of males but this difference was greater in the DS subjects than in the normal population. The DS patients with severe mental retardation showed significantly longer I–V interpeak intervals than those with moderate retardation; this could be due to the presence of additional central nervous system abnormalities.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02229173
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Sleep Apnea in a patient with Becker Muscular Dystrophy (1997)
    Springer
    Neurological sciences 18 (1997), S. 59-60 
    Details
    ISSN: 1590-3478
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02106234
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    Paper (German National Licenses)
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  • 5
    Electronic Resource
    Electronic Resource
    Westphal-Strümpell disease: A case report with a new method of urinary copper evaluation (1983)
    Springer
    Neurological sciences 4 (1983), S. 197-202 
    Details
    ISSN: 1590-3478
    Keywords: Westphal-Strümpell disease ; late-onset Wilson disease ; cupriuria values
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario Gli Autori riferiscono a proposito di un caso di malattia di Westphal-Strumpell. La diagnosi è stata fatta sulla base dei dati plasmatici (ceruloplasmina, cupremia) e della cupruria. L'efficacia del trattamento specifico è stata moniototrizzata con i valori della cupruria. Quest'ultima è stata misurata con un nuovo metodo chimico quantitativo, descritto in dettaglio.
    Notes: Abstract A case of Westphal-Strümpell disease diagnosed by classical serum and urinary investigations is described. The efficacy of specific treatment was monitored by the values of urinary copper excretion, determined by a new quantitative chemical method, which is described in detail.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02043905
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    Paper (German National Licenses)
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