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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 59 (1981), S. 1319-1320 
    ISSN: 1432-1440
    Keywords: McArdle's disease ; Glycogenosis V ; Ammonia ; Lactate ; Ischemic work test ; McArdle-Syndrom ; Glycogenose V ; Ammoniak ; Laktat ; Ischämietest
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Es wird ein Patient mit einem typischen “late onset” McArdle-Syndrom beschrieben. Während ischämischer Arbeit fand sich bei dem Patienten ein exzessiver Anstieg des Ammoniaks im Plasma. Dies dürfte auf einer Aktivierung der Myokinase/Myoadenylat-Deaminase-Reaktionen beruhen. Neben dem charakteristischerweise fehlenden Laktatanstieg unter ischämischer Arbeit scheint eine vermehrte Ammoniak-Freisetzung für das McArdle-Syndrom typisch zu sein.
    Notes: Summary A patient with typical features of late onset McArdle's disease is described. During forearm ischemic work test the patient exhibited an exaggerated increase in ammonia release, largely exceeding normal values. It is suggested, that this is due to an activation of the myokinase/myoadenylate deaminase pathway. Besides lack of lactate release increased ammonia release during ischemia may be a typical feature of McArdle's disease.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Tremor ; Elektromyographie ; Ablenkmanöver ; Key words Tremor ; Electromyography ; Distraction maneuvers
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary In a total of 30 tremor patients (14 with Parkinson’s disease, 6 with cerebellar tremor, 4 with essential tremor, 4 with psychogenic tremor, 2 with enhanced physiological tremor), tremor was electromyographically recorded before, during and after contralateral distraction tasks (tapping with the index finger or the tip of the foot, sequential flexion of the 2nd to 5th finger towards the thumb, „keyboarding”, and sensory discrimination). 22 of 26 patients with organic tremors spontaneously choose a volitional tapping frequency independent from their tremor frequency. In 4 patients with psychogenic tremor, frequencies of tremor and tapping were locked (n=3), or tremor disappeared abruptly (n=1) when contralateral tapping was started. Contralateral „keyboarding” and sensory discrimination revealed no clear differences between organic and psychogenic tremors. Contralateral tapping in further 23 patients (22 with organic tremors and 1 with psychogenic tremor) confirmed these findings. Contralateral tapping appears as the most valid distraction task and may help to differentiate psychogenic from organic tremors.
    Notes: Zusammenfassung Bei insgesamt 30 Patienten mit Tremor (14 mit Parkinson-Tremor, 6 mit zerebellärem Tremor, 4 mit essentiellem Tremor, 4 mit psychogenem Tremor, 2 mit aktiviertem physiologischen Tremor) wurde die Tremoraktivität vor, während und nach folgenden kontralateralen Ablenkungsmanövern elektromyographisch abgeleitet: Taktschlagen mit dem Zeigefinger oder der Fußspitze, sequentielle Beugung des 2. bis 5. Fingers auf den Daumen („Klavierspielen”) und Zahlendiskrimination. 22 von 26 Patienten mit organischem Tremor wählten spontan eine von der Tremorfrequenz abweichende willkürliche Taktfrequenz. Bei 4 Patienten mit psychogenem Tremor dagegen standen Tremor- und Taktfrequenz entweder in einer ganzzahligen Beziehung (n=3) oder der Tremor brach abrupt mit Taktbeginn ab (n=1). Während kontralateralem „Klavierspielen” und kontralateraler Zahlendiskrimination fanden sich dagegen keine klaren Unterschiede zwischen organischen und psychogenen Tremores. Die Befunde beim kontralateralen Taktschlagen wurden bei weiteren 23 Patienten (22 mit organischem Tremor und 1 mit psychogenem Tremor) bestätigt. Kontralaterales Taktschlagen erscheint danach als valider klinischer Test für die Abgrenzung psychogener von organischen Tremores.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Der Unfallchirurg 103 (2000), S. 220-226 
    ISSN: 1433-044X
    Keywords: Schlüsselwörter Dystonie ; Bewegunsstörung ; Peripheres Trauma ; Psychogen ; Key words Dystonia ; Movement disorder ; Peripheral trauma ; Psychogenic
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Abstract Dystonia is a rare neurological complication after peripheral trauma. Incidence and pathophysiology of post-traumatic dystonia are not known. Predisposing factors are sympathetic reflex dystrophia, pre-existing movement disorders or a family history of movement disorders. The main diagnostic goal is to exclude other causes of secondary dystonia. Objective criteria for posttraumatic dystonia are not established, and therefore differentiation from psychogenic dystonia frequently remains difficult. Careful psychiatric examination is obligatory. Clinical criteria are consistency of the symptoms over time and the presence of symptoms compatible with organic dystonia. Polygraphic EMG examinations provide objective correlates of the movement disorder, but exact EMG criteria for the diagnosis of dystonia have yet to be established.
    Notes: Zusammenfassung Eine posttraumatische Dystonie kann sich nicht nur nach Hirnverletzungen, sondern in seltenen Fällen auch nach peripheren Traumen entwickeln. Die Pathogenese ist nicht bekannt. Präsdisponierende Faktoren sind vor allem Sympathische Reflexdystrophie, vorbestehende extrapyramidale Bewegungsstörungen oder positive Familienanamnese. Diagnostisch müssen zunächst andere Ursachen einer Dystonie ausgeschlossen werden. Da der kausale Zusammenhang zwischen Trauma und nachfolgender Bewegungsstörung bisher nicht beweisbar ist, ist die Abgrenzung von einer psychogenen Störung oft schwierig. Diese Unterscheidung ist aber für die Einleitung einer adäquaten Therapie und Beantwortung gutachterlicher Fragestellungen von grosser Bedeutung. Eine ausführliche neurologische und psychosomatisch/psychiatrische Untersuchung ist obligat. Die EMG-Polymyographie kann wertvolle Hinweise geben; die Diagnose muß aber, da objektive Kriterien bislang nicht etabliert sind, anhand klinischer Kriterien gestellt werden.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Der Nervenarzt 70 (1999), S. 920-923 
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Bandscheibenprolaps ; Chemonukleolyse ; Komplikationen ; Myelopathie ; Key words Disc prolapse ; Chemonucleolysis ; Complications ; Myelopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Chemonucleolysis is a debated therapeutic method for herniated lumbar disc. We report a patient who suffered a sequence of characteristic sequels cumulating in late-onset myelopathy with persistent spastic paraplegia, sensory loss below T8 and bladder incontinence. Complications of chemonucleolysis are less frequent as compared to herniated disc surgery, but may cause severe impediment. Serious complications are anaphylactic shock, intracranial or spinal hemorrhage and transverse myelitis. This has to be taken into account for indication and patient information.
    Notes: Zusammenfassung Die Chemonukleolyse ist eine kontrovers beurteilte Behandlungsmethode des lumbalen Bandscheibenprolaps. Wir berichten über eine Patientin, die eine Reihe typischer Komplikationen erlitt, darunter eine subakute Spätmyelopathie. Statistisch treten nach Chemonukleolyse zwar seltener Komplikationen auf als bei operativen Therapieverfahren des lumbalen Bandscheibenprolaps, sie führen jedoch z.T. zu erheblichen Beeinträchtigungen. Zu den schwersten Komplikationen zählen allergische Reaktionen, zerebrale und spinale Blutungen und transverse Myelitiden. Dies muß bei Indikationsstellung der Chemonukleolyse und bei der Aufklärung der Patienten berücksichtigt werden.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-0428
    Keywords: Keywords Glutamate decarboxylase, autoantibodies, epitope-specificity, Type I diabetes, polyendocrine autoimmune syndrome, stiff-man syndrome, prediabetes.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Aims/hypothesis. The aim of this study was to analyse the conformational and linear epitope profiles of glutamic acid decarboxylase antibody (GAD65-ab)-positive sera to find disease-specific epitope profiles and to study, whether GAD65-ab epitope recognition changes or spreads during the prediabetic period and, thus, can provide markers to differentiate early from later stages of progression to diabetes.¶Methods. Sera from subjects before (n = 21), at onset (n = 44), or at increased risk of Type I (insulin-dependent) diabetes mellitus (n = 20) and from patients with stiff-man syndrome (SMS, n = 18) or polyendocrine autoimmune syndrome (PAS, n = 21) were analysed for conformational and linear GAD65 epitope recognition by an immunohistochemical blocking test based on human monoclonal GAD65-ab (MICA 1–10) and western blotting of a GAD65 epitope-cDNA-library.¶Results. A redundant reactivity of many GAD65-ab positive sera to three major conformational (EP-1, EP-2, EP-3) and two dominant linear epitope clusters (amino acid 1–124 and 535–585) was observed in diabetes, polyendocrine autoimmune syndrome and stiff-man syndrome and no disease-specific epitopes or epitope-profiles were detected. Epitope recognition broadened with higher titres and with the vulnerability of patients to acquire additional autoimmune diseases apart from diabetes. Low GAD65-ab serum titres ( 〈 1200 arbitrary units) and EP-1 recognition in the absence of EP-2 binding characterised the early immune response. Changing epitope profiles combined stable recognition of EP-1 with gain or loss of reactivity to C-terminal epitopes during follow-up.¶Conclusion/interpretation. A maturing autoantibody response, which could spread from EP-1-recognition to other regions of GAD65, resulted in titre-related rather than disease-specific epitope profiles which were not sufficient to predict whether GAD65-ab positive subjects will progress to Type I diabetes, autoimmune polyendocrine syndrome or stiff-man syndrome. [Diabetologia (2000) 43: 210–217]
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Experimental brain research 59 (1985), S. 470-477 
    ISSN: 1432-1106
    Keywords: Three-burst pattern ; Rapid goal-directed movements ; Speed control ; Braking process
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary In rapid goal-directed elbow flexion movements the influence of both movement amplitude and inertial load on the three-burst pattern and the consequences on movement time were studied. Subjects performed visually guided, self-paced movements as rapidly and as accurately as possible. An increase of both the movement amplitude and the inertial load were found to be interacting factors for the modulation of the three-burst-pattern and movement time. The first biceps burst progressively increased in duration and amplitude for larger movements, resulting in prolonged movement times. Surplus inertial loads further prolonged the agonist burst for large, but not for small movement amplitudes. The activity of the antagonist burst, in contrast, was largest in small movements and successively decreased at increasing movement amplitudes. Its duration, however, remained fairly constant. As was similarly observed for the agonist burst, surplus inertial loads lead to a prolongation of antagonist burst duration and an increase of the activity integral for large, but not for small movement amplitudes. It is suggested that in elbow flexion movements the programming of fastest goal-directed movements must take into account neural constraints and biomechanical characteristics of the agonist muscle and the antagonist muscle. Due to neural constraints of the biceps muscle, in contrast to finger movements, the concept of movement time invariance does not hold for elbow movements. Furthermore, neural constraints of the antagonist muscle lead to a limited force production of the agonist muscle at small movement amplitudes in order to avoid an overload of the braking process. The complexity of the relationship between neural and mechanical factors indicate that the size and timing of the three-burst-pattern has to be subtly adjusted to the precise nature of the task and its biomechanical characteristics.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Experimental brain research 55 (1984), S. 127-133 
    ISSN: 1432-1106
    Keywords: Ballistic movement ; Three-burst pattern
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary In isotonic and isometric goal-directed index finger movements made as fast as possible, the “braking hypothesis” ascribed to the antagonist burst was tested. Under isotonic conditions, the extensor burst often failed to occur in small angle movements with low inertial load. It regularly occurred, however, in small angle movements with high inertial load and in wide angle movements with both low and high inertial loads. Such features suggest, indeed, the antagonist burst as being part of braking strategies. Under isometric conditions, the antagonist burst — if it occurred — exhibited characteristics which suggested a rapidly alternating movement rather than a braking strategy.
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Springer
    Experimental brain research 43 (1981), S. 78-86 
    ISSN: 1432-1106
    Keywords: H reflex ; Long-loop reflex ; Electromyography
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Long-loop reflexes from arm afferents onto motoneurones of leg muscles were investigated in 57 healthy subjects by means of H reflex testing and tonic EMG testing. In various tonically activated leg muscles, brachial nerve stimulation exerted stereotyped reflex responses which regularly consisted of an initial depression phase (mean onset latency: 60 ms) and a subsequent facilitatory phase (mean onset latency: 80 ms). H reflex studies, in contrast, only revealed the later facilitation. Except for this difference, both methods led to similar results: fibres responsible for the response were identified as low-threshold skin afferents with a conduction velocity of about 40 m/s. Noxious stimulation reinforced the effects of innocuous stimulation. The receptive field for the reflex response was not restricted to the ipsi- and contralateral arm regions but included the face and the rostral part of the trunk above the buttock. Percutaneous stimulation of dorsal roots C4 and T9, respectively, resulted in a shortening of the onset latencies of both depression and facilitation, with T9 stimulation. It is therefore suggested that the reflexes described are mediated via a directly descending, long spinal pathway.
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 157 (1998), S. 824-830 
    ISSN: 1432-1076
    Keywords: Key words Intelligence ; Neurology ; Neuropsychology ; Phenylketonuria
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Due to the observation of severe neurological symptoms in single patients as well as brain imaging, neuropsychological and neurophysiological abnormalities, the long-term prognosis of treated phenylketonuria is still under discussion. We investigated the neurological outcome of 57 (24 male, 33 female) patients with phenylketonuria (diet onset 〈3 months) at a mean age of 23.6 (17–33) years in comparison to control subjects. Methods used were a clinical-neurological examination, tests for fine motor abilities, IQ test (WAIS-R), a neuropsychological attention task and MRI (30 patients only). Tremor was increased in the patients (28%) compared to controls (15%). Fine motor abilities were significantly reduced in three areas: hand-wrist steadiness, finger-hand dexterity and hand-wrist speed. Tremor as well as reduced fine motor skills were not associated with treatment-related variables, e.g. diet onset, strictness of biochemical control or amount of MRI white matter change. IQ was lower in patients (mean 97.6) compared to matched control subjects (mean 105.5). IQ at 12 years was correlated with biochemical control from birth up to the age of 12 and remained stable up to adult age, independent of biochemical control after 12 years of age. In contrast to the other outcome parameters, the performance in a neuropsychological attention task was influenced by the concurrent plasma phenylalanine concentration. Specific late-onset neurological impairment was not identified in this sample of early-treated adults with phenylketonuria. Conclusion Careful neurological investigation revealed subtle symptoms of brain damage even after early-initiated treatment in adult patients with phenylketonuria. At present it cannot be excluded that further neurological deterioration could emerge later in life. Thus, patients with phenylketonuria – either on or off diet – should be monitored throughout life.
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    Journal of neurology 201 (1972), S. 62-72 
    ISSN: 1432-1459
    Keywords: Myotonia Atrophica ; Myotonia Congenita ; Electromyography ; Spontaneous Muscle Fibre Activity ; Repetitive Discharge Trains
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Bei 5 Patienten mit Myotonia congenita und 8 Patienten mit Dystrophia myotonica konnten 793 bzw. 677 myotone Entladungsserien elektromyographisch registriert werden. Die Entladungsserien wurden durch leichtes Muskelbeklopfen oder geringe Nadelbewegung provoziert. Wir berücksichtigten nur Entladungsserien, die aus einem repetierenden Aktionspotential bestanden und nicht durch benachbarte Aktivität überlagert waren. Gemessen wurde die Dauer der Entladungsserien, die Frequenz, Frequenz- und Amplitudenänderung und die Dauer der Einzelpotentiale. Dabei ergab sich: Die meisten Entladungsserien bei Myotonia congenita sind kurzdauernd, unter 1 sec; sie haben eine ansteigende Frequenz und abfallende Amplitude. Dagegen dauern die meisten Entladungsserien bei Dystrophia myotonia länger. Frequenz und Amplitude nehmen ab oder bleiben unverändert. Diese Befunde könnten auf einen unterschiedlichen Entstehungsmechanismus des myotonen Phänomens bei Myotonia congenita and Dystrophia myotonica hindeuten.
    Notes: Summary We recorded myotonic discharges electromyographically in 5 patients with myotonia congenita and in 8 others with myotonic dystrophy. It was by slight percussion of the muscle or minimal movement of the needle tip that the myotonic discharge trains were evoked. We used only single discharge trains consisting of one repetitive action potential. Thus we registered 793 discharge trains in myotonia congenita and 677 in myotonic dystrophy. The following parameters were studied: Duration of the discharge train, frequency, changes in both frequency and amplitude, duration of the action potential. Results: In myotonia congenita discharge trains of short duration, i.e. 1 sec or less, are predominant. Most often they show an increasing discharge rate and a decrease in amplitude. In contrast the majority of discharge trains in myotonic dystrophy are of longer duration and display either a decrease in frequency and amplitude or no modification at all. These findings appear to point to a different genesis of the myotonic discharge in the two disease entities.
    Type of Medium: Electronic Resource
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