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  • 1
    ISSN: 1432-1459
    Keywords: Key words Multiple sclerosis ; Haemopoietic stem cell transplantation ; Consensus guidelines
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Recent reports suggest the possible beneficial effects of haemopoietic stem cell transplantation (HSCT) in autoimmune diseases such as multiple sclerosis (MS). The definition of the risk/benefit ratio for such a treatment is perceived as a major issue for the neurological community worldwide. The First Consensus Conference on Bone Marrow Transplantation in Patients with Multiple Sclerosis was held in Milan, Italy on 21 February 1998. Participants from 16 European, North American, and South American countries discussed the guidelines form performing HSCT in MS. This conference was organized in order to : (a) define criteria for patient selection; (b) define transplantation procedures to maximize efficacy of the treatment and minimize its toxicity; (c) standardize patient outcome evaluation; and (d) establish an international working group to evaluate the efficacy and safety of HSCT in MS and to study the immunological changes related to HSCT in MS patients. During the meeting in Milan agreement was reached on: (a) the preparation and distribution of a consensus report on HSCT in MS and (b) the design of an open trial for an initial assessment of the safety and efficacy of HSCT in MS. The consensus reached during the meeting and the design of the clinical trial are summarized in this contribution.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1459
    Keywords: Key words Troyer syndrome ; Motor neuron disease ; Thin corpus ; callosum
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Hereditary spastic paraplegia is a group of clinically and genetically heterogeneous disorders consisting of pure and complicated forms. A variant with the additional features of severe atrophy of the small hand muscles, dysarthria, mental retardation, and short stature has been termed Troyer syndrome (MIM#275900) after the name of Old Order Amish families suffering from these symptoms. We report here an Austrian family with two individuals who exhibit all the features of Troyer syndrome, and provide additional data on this disorder. Electrophysiological studies showed chronic denervation and reduced motor nerve conduction velocities but normal sensory potentials. Muscle biopsy revealed a neurogenic pattern while the sural nerve was normal on histological examination. Brain abnormalities on magnetic resonance imaging consisted of a thin corpus callosum with a poorly developed cingulate gyrus and mild periventricular signal hyperintensities. These findings characterize the Troyer syndrome as a disorder of the first and second motor neuron with additional damage in the brain. The morphological features observed in this family may contribute to the grouping and subsequent understanding of complicated forms of hereditary spastic paraplegia, together with similar observations in other, more recently reported families.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Der Nervenarzt 69 (1998), S. 361-365 
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Multiple Sklerose ; Behandlung ; Intravenöse Immunglobuline ; Key words Multiple sclerosis ; Treatment ; Intravenous immunoglobulin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Experimental studies and open clinical trials have suggested intravenous immunoglobulin (IVIg) as a potentially effective treatment of multiple sclerosis (MS). The Austrian Immunoglobulin in Multiple Sclerosis (AIMS) study tested this assumption by examining 148 patients with relapsing-remitting MS in a randomized, double-blind, placebo controlled fashion (75 IVIg, 73 placebo). Monthly administration of IVIg in a dosage of 0.15–0.20 g/kg over a period of 2 years slowed the progression of or even reversed disability as evident in a total of 24% of patients and almost halved the number of relapses in comparison to placebo treatment. Therapeutic efficacy was noted within the first 6 months of treatment and was not correlated to the severity of disability (mild neurological sins without disability to ambulatory with assistance) at study entry. Overall the magnitude of treatment effects of IVIg was comparable to that reported for beta-interferon and copolymer 1. Further ongoing studies will have to clarify the future role of IVIg in the treatment of MS, in particular in the progressive forms of the disease.
    Notes: Zusammenfassung Auf Grund experimenteller Untersuchungen sowie offener Studien wird seit langem die Möglichkeit einer therapeutischen Wirksamkeit von intravenösem Immunglobulin (IVIg) in der Behandlung der Multiplen Sklerose (MS) diskutiert. Die Austrian Immunoglobulin in Multiple Sclerosis (AIMS) Studie überprüfte diese Annahme nun erstmals in Form einer randomisierten, doppelblinden, placebokontrollierten Untersuchung an 148 Patienten mit schubförmiger MS (75 IVIg, 73 Placebo). Monatliche Verabreichung von IVIg in einer Dosierung von 0,15–0,2 g/kg über einen Zeitraum von 2 Jahren führte zu einem signifikant besseren Verlauf der Behinderung, der sich bei insgesamt 24% der Patienten niederschlug, und Krankheitsschübe traten fast nur halb so häufig auf wie unter Placebo. Ein Wirkungseintritt der Behandlung war bereits nach 6 Monaten zu beobachten und vom Schweregrad der Behinderung bei Studienbeginn (geringe neurologische Zeichen ohne Behinderung bis zu gehfähg mit Hilfe) weitgehend unbeeinflußt. Die Größenordnung der beobachteten Therapieeffekte war vergleichbar mit jener, die für Beta-Interferon und Copolymer 1 beschrieben worden ist. Weitere Studien sind bereits angelaufen, um den zukünftigen therapeutischen Stellenwert von IVIg insbesondere auch bei anderen Verlaufsformen der MS abzusichern.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Intrazerebrale Blutung ; Magnetresonanztomographie ; Hämosiderin ; Key words Intracerebral hematome ; Magnetic resonance imaging ; Hemosiderin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Increased use of gradient echo T2*- weighted gradient echo sequences in magnetic resonance imaging (MRI) of patients suffering from primary ICH called attention to foci of signal loss which were suggested to represent remnants of cerebral microbleeds. In a post mortem correlative MR and histopathological study we provide support for this notion. We found areas of signal loss on gradient echo T2*-weighted sequences in 7 out of 11 brains of patients who had died of intracerebral hematoma. Histopathologically, these areas represented hemosiderin deposits indicating previous extravasation of blood. To provide data about the prevalence of these MRI findings in a healthy elderly population a subgroup of participants of the Austrian Stroke Prevention Study was analyzed. We detected foci of signal loss on gradient echo T2*-weighted sequences in 18 out of 280 volunteers (6,4%). MR-based evidence of previous microbleeds may indicate a potentially higher risk of suffering from intracerebral bleeding which could have therapeutic implications for the treatment of acute stroke and for secondary prevention. This hypothesis will have to be tested in future prospective trials.
    Notes: Zusammenfassung Vermehrte Anwendung T2*-gewichteter Gradienten-Echo-Sequenzen bei Magnetresonanztomographie- (MRT-) Untersuchungen von Patienten nach einem intrazerebralen Hämatom machte auf kleine, hypointense Areale aufmerksam, von denen bisher nur angenommen wurde, daß sie abgelaufene Mikroblutungen darstellen. In einer Post-mortem-Studie mit MRT und vergleichenden histopathologischen Untersuchungen zeigen wir Daten, die diese Hypothese stützen. Bei 7 von 11 Patienten, die an primärem intrazerebralem Hämatom verstorben waren, fanden sich hypointense Areale in T2*-Gradienten-Echo-Sequenzen. Histopathologisch zeigten diese Areale Hämosiderin-Ablagerungen, welche auf abgelaufene Blutungen hinweisen. Um Aussagen über die Prävalenz dieser MRT-Befunde in einem Kollektiv klinisch unauffälliger Probanden mittleren Alters machen zu können, wurden Teilnehmer derÖsterreichischen Schlaganfall-Vorsorge-Studie untersucht. Bei 18 von 280 Probanden (6,4%) fanden sich Signalhypointensitäten in T2*-Gradienten-Echo-Sequenzen. Der MR-tomographische Nachweis abgelaufener Mikroblutungen könnte ein Hinweis auf ein erhöhtes zerebrales Blutungsrisiko sein, was therapeutische Konsequenzen für die primäre Therapie und Sekundärprophylaxe beim Schlaganfall haben könnte. Hierzu sind noch weitere prospektive Studien notwendig.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Multiple Sklerose ; Aufklärung ; Subjektive Empfindungen ; Zeitpunkt ; Patientenbefragung ; Key words Multiple sclerosis ; Information about diagnosis ; Patient feelings ; Timing of information ; Patient questionnaire
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary The timing and extent of information which should be given to sufferers from multiple sclerosis (MS) are usually discussed without knowing the patients’ opinion. In a pilot study we therefore retrospectively asked 50 patients with relapsing MS (mean age 34±9 years) for their feelings before and after having been informed about suffering from this disease and in respect to the timing of this information by means of an anonymous questionnaire. The response rate was 86%. Patients reported a high rate of anxiety, depressed mood, uncertainty and concern even before having been told about suffering from MS. Information about the diagnosis caused a further slight increase of these negative feelings but initiated much stronger positive feelings such as courage for fighting the disease and clarity about their situation. Patients’ opinion regarding the timing of information was heterogenous but only 3 (7%) would have preferred to be informed later or not at all. Especially patients with moderate to severe disability had wanted earlier information. Our results document the request of MS patients for full but individually timed information.
    Notes: Zusammenfassung Zeitpunkt und Umfang der Aufklärung über das Vorliegen multipler Sklerose (MS) werden gewöhnlich ohne Wissen um die Patientenmeinung diskutiert. In einer Pilotstudie haben wir deshalb 50 Patienten mit schubförmiger MS (mittleres Lebensalter 34±9 Jahre) mittels anonymisierten Fragebogens zu ihren Empfindungen vor und nach Krankheitsaufklärung sowie zum Zeitpunkt der Aufklärung retrospektiv befragt. Die Antwortrate betrug 86%. Bereits vor dem Wissen um das Vorliegen einer MS bestanden ein hohes Maß an Angst, Niedergeschlagenheit, Unsicherheit und Sorge. Die Aufklärung verursachte ein weiteres geringes Ansteigen dieser Gefühle, löste aber insbesondere sehr stark positive Gefühle wie Kampfgeist und Klarheit über den eigenen Zustand aus. Bezüglich des Aufklärungszeitpunktes waren die Meinungen unterschiedlich, allerdings wären nur 3 (7%) Patienten gerne später oder gar nicht aufgeklärt worden. Frühere Aufklärung hätten insbesondere Patienten mit mäßiger bis schwerer Behinderung gewünscht. Die Ergebnisse dokumentieren den grundsätzlichen Wunsch der MS-Patienten nach voller Information, wobei der richtige Zeitpunkt der Aufklärung individuell abgestimmt werden muß.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Parkinson-Syndrom ; Vaskulär ; Zerebrovaskuläre Risikofaktoren ; Key words Parkinson’s disease ; Vascular etiology ; Cerebrovascular risk factors
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary A vascular etiology of Parkinson’s disease (PD) has been long debated. In order to search for an ischemic basis of PD we assessed the clinical symptomatology of a consecutive group of 60 PD patients and compaired their frequency of cerebrovascular risk factors, carotid atherosclerosis and ischemic brain lesions with age-matched groups of stroke patients and normals. There were 16 (27%) subjects with PD who also had symptoms of cerebrovascular disease. The frequencies of carotid stenoses, ischemic brain lesions and most of cerebrovascular risk factors seen in the latter group was comparable with those of stroke patients and significantly higher than in the investigational subsets of patients with ”pure” PD and normals. Only one (1.6%) individual with PD presented signs suggestive of an ischemic etiology of parkinsonism. These findings suggest that cerebrovascular disease occurs in approximately one fourth of patients with PD, but seldomly is causally related.
    Notes: Zusammenfassung Eine mögliche vaskuläre Genese des Morbus Parkinson steht immer wieder zur Diskussion. Ziel der vorliegenden Arbeit war die Erhebung einer möglichen vaskulären Ätiologie der Parkinson-Symptomatik bei einer konsekutiven Gruppe von 60 Parkinson-Patienten unter Einbeziehung der klinischen Symptomatik, Verteilung zerebrovaskulärer Risikofaktoren, Präsenz computertomographisch erfaßbarer morphologischer Hirnveränderungen und sonographisch darstellbarer Hirnarterienveränderungen und Vergleich der Ergebnisse mit denen einer altersvergleichbaren Insult- und Normalgruppe. 16 (27%) Parkinson-Patienten wiesen anamnestisch oder klinisch zusätzlich Zeichen einer zerebrovaskulären Insuffizienz auf. Die Frequenz der meisten zerebrovaskulären Risikofaktoren, zerebraler Infarkte und Karotisstenosen in dieser Patientengruppe war vergleichbar mit jener der Insultpatienten und signifikant höher als bei Parkinson-Patienten ohne Zeichen einer zerebrovaskulären Insuffizienz und Normalpersonen. Eine mögliche vaskuläre Ätiologie der Parkinson-Symptomatik konnte nur in einem Fall (1,6%) diskutiert werden. Zusammenfassend fand sich im Rahmen der vorliegenden Studie bei ungefähr einem Viertel der Parkinson-Patienten eine additive zerebrovaskuläre Erkrankung, ein kausaler Zusammenhang mit der Parkinsonsymptomatik kann jedoch als selten angesehen werden.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Charcot-Marie-Tooth-Syndrom ; Hereditäre motorisch-sensible Neuropathien ; CMT ; HMSN ; Key words Charcot-Marie-Tooth syndrome ; Hereditary motor and sensory neuropathies
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Charcot-Marie-Tooth (CMT) disease is the most common inherited disorder of the peripheral nervous system with an incidence of 40:100,000. Clinically, it is characterized by distal muscle weakness and wasting, primarily of the legs and later of the arms, foot deformity, diminished or absent tendon reflexes, and mild-to-moderate sensory loss. Molecular genetic studies over the past 2 decades have revealed the genetic heterogeneity of this disorder and the identification of different genes or gene loci, respectively. Therefore, a current CMT classification though constantly changing due to ongoing detection of further genetic defects must take into consideration both phenotypic and genotypic criteria. Since certain clinical features appear to be associated with specific genetic subtypes, we provide a detailed description of characteristic phenotypic variants to facilitate differential diagnosis and allow more precise referral to subsequent genetic investigations.
    Notes: Zusammenfassung Das Charcot-Marie-Tooth-(CMT-)Syndrom ist mit einer Prävalenz von 40:100000 die häufigste vererbte Erkrankung des peripheren Nervensystems. Hauptmerkmale sind peroneale Muskelschwäche und -atrophie, Fußdeformität, abgeschwächte oder fehlende Reflexe, geringe bis mäßig ausgeprägte Sensibilitätsstörungen und später auch distale Muskelatrophie und -schwäche der oberen Extremitäten. Molekulargenetische Untersuchungen der letzten zwei Jahrzehnte haben gezeigt, daß diese Erkrankung sehr heterogen ist. Der Nachweis einzelner Gendefekte innerhalb vieler Familien hat zu einer Unterteilung in zahlreiche Subtypen des CMT-Syndroms geführt. Die derzeitige Klassifikation der hereditären Neuropathien kann somit nunmehr auf Genotyp und Phänotyp aufbauen. Sie ist allerdings in einem ständigen Wandel begriffen, da weiterhin neue genetische Defekte erkannt und beschrieben werden. Trotz der genetischen Vielfalt erlauben phänomenologische Besonderheiten der Subtypen dennoch häufig eine gewisse Zuordnung zu bestimmten Gendefekten. Diese vorliegende Übersicht charakteristischer Merkmale soll die entsprechende Differenzierung bereits auf klinischer Basis erleichtern und ermöglichen, beim einzelnen Patienten bzw. innerhalb einer Familie eine gezielte genetische Untersuchung zu veranlassen.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    European archives of psychiatry and clinical neuroscience 246 (1996), S. 317-319 
    ISSN: 1433-8491
    Keywords: Dementia screening ; Predictors ; Concurrent validity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The Mini Mental State Examination (MMSE) and the Mattis Dementia Rating Scale (MDRS) are among the most commonly used screening tests for dementia. The goals of our study were, firstly, to identify sociode-mographic factors which may explain the variance of test results in a community sample and, secondly, to investigate the interrelationship of these two dementia screening tests in order to evaluate the concurrent validity. A total of 1947 subjects were investigated in the setting of the Austrian Stroke Prevention Study (ASPS). Our study confirms most previous results demonstrating a relationship of higher dementia test scores with both younger age and higher educational level. Interestingly, the results we obtained suggest only a weak relationship and poor concurrent validity of the two tests. The total scores of the two tests show poor joint variance. This could lead to the conclusion that these tests evaluate different cognitive domains.
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Journal of neurology 241 (1994), S. 181-189 
    ISSN: 1432-1459
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    Journal of neurology 247 (2000), S. 81-87 
    ISSN: 1432-1459
    Keywords: Key words Dementia ; Vascular ¶dementia ; Alzheimer’s disease ; Risk factors, stroke ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract This review describes differing profiles of vascular risk factors in different types of dementia. Although vascular risk factors are related to various types of strokes, their independent effect on the occurrence of poststroke dementia appears to be small. Various risk factors have been identified for microangiopathy-related cerebral abnormalities, such as white matter changes and lacunae, which are the core lesions for the development of a vascular dementia syndrome without stroke symptoms. Most consistently, arterial hypertension and diabetes mellitus have been found to be associated with such brain abnormalities. Diastolic blood pressure seems to be of particular importance as recent investigations demonstrate that this factor is related to the course of multiple lacunar strokes and the progression of white matter disease. Epidemiological studies report that various vascular risk factors including arterial hypertension, diabetes mellitus, and atrial fibrillation may also be associated with Alzheimer’s disease. There is also evidence of a direct relationship between Alzheimer’s disease and general atherosclerosis. Further investigations are needed to determine whether these associations are due to the weakness of diagnostic criteria, or whether vascular risk factors indeed modulate the clinical expression of primary degenerative dementia. Common susceptibility genes leading to shared risk factors may be one of the reasons for a higher coincidence of Alzheimer’s disease and vascular dementia than can be expected by chance. A modulatory effect of vascular risk factors in the development of primary degenerative dementia may extend treatment options.
    Type of Medium: Electronic Resource
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