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  • 1
    Electronic Resource
    Electronic Resource
    A kindred affected by cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) (1998)
    Springer
    Journal of neurology 245 (1998), S. 217-222 
    Details
    ISSN: 1432-1459
    Keywords: Key words Vascular dementia ; Dominant inheritance ; Cognition ; Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) ; Magnetic resonance imaging
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report a 2-year prospective neuropsychological study of five asymptomatic subjects with magnetic resonance imaging (MRI) abnormalities from an Italian kindred affected by cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). These subjects completed tests for attention capacities, processing speed, abstract thinking, short-term memory, learning and constructional praxis. Seven normal subjects matched for age and education, belonging to the same pedigree and not having MRI hyperintensities were examined as controls. The results did not show significant differences between asymptomatic subjects and normal controls. Cognitive performance of asymptomatic subjects did not deteriorate during a 2-year follow-up. Our findings suggest that, at this stage of the disease process, the presence of diffuse leukoencephalopathy does not imply subtle cognitive defects.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004150050208
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Why do some Friedreich’s ataxia patients retain tendon reflexes? (1999)
    Springer
    Journal of neurology 246 (1999), S. 353-357 
    Details
    ISSN: 1432-1459
    Keywords: Key words Friedreich’s ataxia ; Retained tendon reflexes ; GAA ; expansion ; Sensory action potentials ; Somatosensory evoked potentials
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Among 101 patients homozygous for GAA expansion within the X25 gene, 11 from 8 families had Friedreich’s ataxia with retained reflexes in the lower limbs (FARR). These patients had a lower occurrence of decreased vibration sense, pes cavus, and echocardiographic signs of left ventricular hypertrophy than the 90 FA patients with areflexia. The mean age at onset was significantly later (26.6 ± 11.4 vs. 14.2 ± 6.9 years), and the mean size of the smaller allele was significantly less (408 ± 252 vs. 719 ± 184 GAA triplets) in FARR patients. The neurophysiological findings were consistent with milder peripheral neuropathy and milder impairment of the somatosensory pathways in FARR patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004150050362
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    Paper (German National Licenses)
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  • 3
    Electronic Resource
    Electronic Resource
    Patients compliance in an early detection program for upper aero-digestive tract tumours in North-Eastern Italy (1990)
    Springer
    Sozial- und Präventivmedizin 35 (1990), S. 159-163 
    Details
    ISSN: 1420-911X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Résumé Une étude pilote de dépistage a été conduite dans la région Friuli-Venezia Giulia, dans le Nord-Est d'Italie, depuis décembre 1988 jusqu'en mars 1989 concernant les cancers de l'appareil respiratoire et digestif supérieur. Ces régions montrent un taux très élevé de mortalité par les cancers. 671 patients à haut risque (fumeurs et/ou buveurs) ont été adressés aux spécialistes ORL pour une consultation gratuite de dépistage.
    Abstract: Zusammenfassung Von Dezember 1988 bis Mai 1989 wurde in der Region Friaul-Venedig-Giulia in Nordost-Italien eine Pilotstudie zur Früherkennung von Tumoren des oberen Respirations- und Verdauungstraktes durchgeführt. Die Region ist gekennzeichnet durch sehr hohe Karzinom-Mortalitätsziffern dieser Lokalisationen. 671 Hochrisikopatienten (d h regelmässige Raucher und/oder Trinker) wurden von 16 Allgemeinpraktikern an Hals-Nasen-Ohren-Spezialisten zur kostenlosen Vorsorgeuntersuchung überwiesen. Bei den 436 Patienten, welche an der Untersuchung teilnahmen, wurden 55 präkanzeröse Läsionen und acht Epitheltumoren entdeckt. Die Pilotstudie scheint das Ziel erreicht zu haben, die Beziehung zwischen Allgemeinpraktikern und Hals-Nasen-Ohren-Spezialisten zu verbessern, frühe kanzeröse und präkanzeröse Veränderungen zu entdecken und die Hochrisikopatienten über die gesundheitlichen Risiken von Rauchen und Trinken aufzuklären.
    Notes: Summary An early detection program for tumours of the upper respiratory and digestive tract has been conducted from December, 1988 to May, 1989 in the Friuli Venezia-Giulia region, Northeastern Italy. This region shows very high mortality rates for cancers in these sites. Six hundred seventy-one high risk patients (i e habitual smokers and/or drinkers) were referred to Ear, Nose and Throat (ENT) specialists from 16 General Practitioners (GPs) for a free examination as part of the screening program. Four hundred thirty-six patients underwent the visit (65%) with fifty-five precancerous lesions and eight epithelial tumours detected-among them. This program appears to have accomplished its aims of establishing a closer relationship between GPs and ENT specialists, discovering early cancerous and precancerous lesions, and targeting high risk patients with an educational message against smoking and heavy drinking.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01359480
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    Paper (German National Licenses)
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  • 4
    Electronic Resource
    Electronic Resource
    Correlations between clinical, electrophysiological and histological findings in patients with different diseases of the peripheral nervous system (1983)
    Springer
    Neurological sciences 4 (1983), S. 511-511 
    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/BF02125636
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    Paper (German National Licenses)
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