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  • 1
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Adrenomyleoneuropathie ; Adrenoleukodystrophie ; Genmutation ; Peroxisomale Stoffwechselerkrankung ; X-chromosomaler Erbgang ; Key words Adrenoleukodystrophy ; Adrenmyeloneuropathy ; Genetic analysis ; Peroxisomal disease
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Adrenoleukodystrophy (ALD) is an X-linked peroxisomal disease affecting 1 in 20000 males either as cerebral ALD in childhood or as adrenomyeloneuropathy (AMN) in adulthood. Recently, the ALD gene has been identified by positional cloning. We report three males patients with AMN and a fourth patient with juvenile ALD. Biochemical studies showed elevated plasma concentration of saturated very-long-chain fatty acids. Genomic DNA of the patients was analysed for possible sequence variations in the ALD gene by PCR amplification and single strand conformation polymorphism analysis. Three missense mutations (Ser515Phe, Glu267Lys and Arg401Trp) and a 9-bp deletion were detected predicting, respectively, the replacement and absence of amino acids in the deduced amino acid sequence of the ALD protein. In the patients’ families, detection of the respective mutations allows the identification of carriers of ALD/AMN. Mutational screening in ALD families is of practical importance in improving genetic counseling.
    Notes: Zusammenfassung Die Adrenoleukodystrophie (ALD) ist eine X-chromosomal erbliche peroxisomale Stoffwechselerkrankung, deren häufigste Manifestationsform die kindliche ALD gefolgt von der adulten Adrenomyeloneuropathie (AMN) ist. Es werden 3 Patienten mit einer AMN und ein Patient mit einer juvenilen Verlaufsform einer ALD vorgestellt. Die Konzentrationen der überlangkettiger Fettsäuren im Plasma waren bei diesen Patienten pathologisch erhöht. Das ALDP-Gen wurde bei diesen Patienten mittels PCR amplifiziert und mit Hilfe der Einzelstrang-Konformations-Polymorphismus-(SSCP-)Analyse auf Mutationen hin untersucht. Dabei fanden sich drei Missense-Mutationen (Ser515Phe, Glu267Lys, Arg401Trp) und eine Deletion von 9 Nukleotiden. Diese Mutationsanalyse ermöglicht eindeutige Aussagen bezüglich der Anlageträgerschaft für ALD in den jeweils betroffenen Familien und ist daher für eine adäquate humangenetische Beratung von Bedeutung.
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  • 2
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Frontalhirnsyndrom ; Schädel-Hirn-Trauma ; Zerebrovaskuläre Erkrankungen ; Key words Frontal lobe syndrome ; Severe head injury ; Cerebrovasular diseases ; Prefrontal cortex
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary The term „frontal lobe syndrome” comprises a variety of different clinical syndromes produced by focal lesions involving the prefrontal cortex. However, similar syndromes can be observed after lesions involving subcortical structures connected with the prefrontal cortex in neuronal networks. With respect to the different clinical pictures and underlying brain lesions, prefrontal lobe dysfunction may be divided into a disorganized type, caused by lesion of the dorsolateral prefrontal lobe and its connections, a disinhibited type that can be observed following lesions of the orbitofrontal cortex, and an apathetic type following lesions affecting the functional balance between the cingulum and the supplementary motor area. As intracerebral lesions are rarely limited to the brain regions described, in the majority of patients various degrees of behavioural dysfunction can be observed. The case reports of four patients illustrating the three major prefrontal syndroms following severe head injury (n=2) or cerebrovascular disease (n=2) are presented and diagnostic implications as well as possible treatment strategies are discussed.
    Notes: Zusammenfassung Der klinisch gebräuchliche Terminus des „Frontalhirnsyndroms” beschreibt eine heterogene Symptomatik, welche nicht nur nach Schädigung des präfrontalen Kortex, sondern auch bei Läsionen von tieferliegenden, mit dem präfrontalen Kortex in Verbindung stehenden Strukturen beobachtet werden kann. Nach den im Vordergrund stehenden klinischen Merkmalen und unter Berücksichtigung der dabei geschädigten anatomischen Strukturen können Schädigungen des präfrontalen Kortex in 3 Untergruppen unterteilt werden: 1. das desorganisierte Syndrom, welchem eine Schädigung der dorsolateralen Konvexität und ihrer Verbindungen zugrunde liegt; 2. das enthemmte Syndrom, welches durch Läsionen des orbitofrontalen Kortex und seiner Verbindungen verursacht wird und 3. das apathische Syndrom infolge mittelliniennaher Läsionen mit Schädigung der Verbindungen zwischen Gyrus cinguli und supplementär-motorischem Areal. Da intrazerebrale Läsionen nur selten auf die beschriebenen Regionen beschränkt sind finden sich häufig Mischbilder mit bisweilen bizzarren psychopathologischen Auffälligkeiten. Anhand von 4 Fallbeispielen von Patienten mit Schädel-Hirn-Trauma (n=2) oder zerebrovaskulärer Erkrankung (n=2) werden die klinische Problematik veranschaulicht und diagnostische sowie therapeutische Maßnahmen besprochen.
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Der Schmerz 13 (1999), S. 201-204 
    ISSN: 1432-2129
    Keywords: Schlüsselwörter Zönästhesie ; Chronischer Schmerz ; Wahnhafte Störung ; Key words Chronic pain ; Coenesthesia ; Delusional disorder
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Abstract Background: Coenesthesias can be defined as disorders of body perception or body hallucinations, projected in different parts of the body. Patients complain of intractable pain or dysesthesia. These symptoms are reported even from organs where we usually have no perception. Coenesthesia must be regarded as a symptom that can be observed in various psychiatric diseases, e.g., schizophrenia. However, in rare cases coenesthesias can be documented in neurological diseases, e.g., intracranial tumors or infections. Therefore, accurate assessment of possible differential diagnoses is important. In late stages, coenesthesias can easily be recognized because of their ”bizarre” character. In early stages, however, patients often complain of intractable, unlocalizable burning pain. They frequently undergo operations because of their great suffering. The drug treatment of first choice is neuroleptics, but the results are unpredictable. Cases and therapie: The case studies of three patients are presented and discussed (patient 1 with coenaesthetic schizophrenia, patient 2 with coenesthesia in the course of a delusional (paranoid) disorder; patient 3 with coenesthesia caused by carcinomatous meningitis).
    Notes: Zusammenfassung Hintergrund: Zönästhesien sind als abnorme Körpermißempfindungen oder leibliche Beeinflussungserlebnisse im Sinn von Leibhalluzinationen definiert, welche in verschiedene Teile des Körpers projiziert werden. Die Patienten klagen häufig über unerträgliche Schmerzen oder Mißempfindungen, welche auch Organe betreffen können, von denen normalerweise keine bewußte Empfindung besteht. Zönästhesien sind als Symptome zu werten, die bei verschiedenen psychiatrischen Erkrankungen, z.B. Erkrankungen aus dem schizophrenen Formenkreis, beobachtet werden. Sie können jedoch auch Symptome neurologischer Erkrankungen sein, z.B. von entzündlichen oder tumorösen Erkrankungen des ZNS, weshalb eine ausführliche Differentialdiagnostik erforderlich ist. Während Zönästhesien in späten Krankheitsstadien aufgrund ihres „bizarren” Charakters leicht zu erkennen sind, kann die Einordnung in Frühstadien, in denen häufig nur schwer lokalisierbare Brennschmerzen oder Mißempfindungen berichtet werden, schwierig sein. Trotz der unspezifischen Beschwerdeschilderung werden aufgrund des hohen Leidensdrucks der Patienten nicht selten wiederholt weitreichende, z.T. invasive und manchmal unnötige diagnostische und therapeutische Maßnahmen veranlaßt. Als Therapie erster Wahl gelten in Abhängigkeit von der Grunderkrankung Neuroleptika, wobei sich die therapeutische Beeinflußbarkeit der Symptome schwierig gestalten kann. Fälle und Therapie: Anhand von 3 Patientenbeispielen [1. Patient mit zönästhetischer Schizophrenie, 2. Patient mit Zönästhesien im Rahmen einer wahnhaften Störung (Paranoia), 3. Patient mit symptomatischen Zönästhesien im Rahmen einer Meningiosis carcinomatosa] werden die klinische Symptomatik der Zönästhesie dargestellt und die Differentialdiagnosen sowie therapeutische Möglichkeiten besprochen.
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  • 4
    ISSN: 1432-0533
    Keywords: Key words Schwann cell inclusions ; Demyelination ; Myelinated nerve fibers ; Morphometry ; Peripheral ; neuropathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In the cytoplasm of Schwann cells of a sural nerve biopsy from a 21-year-old female patient with chronic neuropathy we noted numerous unique, usually double membrane-bound, osmiophilic, granular or globular inclusions, approximately 30–600 μm in diameter. Some of these membrane-bound vesicular or tubular structures contained less dense or no osmiophilic inclusions. Morphometry revealed a reduction of the myelin area per endoneural area to approximately 13% (normal value: 20– 30%) and of the density of myelinated nerve fibers to 5,412/mm2 (normal value at this age: 6,000–9,000/mm2). Large myelinated nerve fibers were predominantly reduced in number, and no myelinated nerve fibers with diameters larger than 4.5 μm were seen. Numerous, usually small onion bulb formations indicated a predominantly demyelinating type of neuropathy. This is to the best of our knowledge the first case of a chronic demyelinating neuropathy in which this kind of presumably pathognostic deposits in the cytoplasm of Schwann cells was detected.
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  • 5
    ISSN: 1433-8491
    Keywords: Phantom arm ; Non-amputees ; Cervical root avulsion ; Brachial plexus injury ; DREZ lesion
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary We report on nine male patients with cervical root avulsions and brachial plexus injuries following traffic accidents. These non-amputees (mean age 33.7 years) had a phantom arm beside the paralysed arm. Cervical root avulsions were demonstrated either by myelography or surgically. Mostly the roots C5-Thl were affected. Eight of the nine patients had Horner's syndrome on the side of the root avulsion. The phantom arm appeared immediately after the accident, except in one patient who was symptom-free for 2 weeks. In two cases the phantom arm disappeared spontaneously. Four patients underwent a DREZ lesion. After surgery the phantom arm disappeared, and three of the patients became pain-free, while one patient experienced pain relief of 20% to 50%. Reviewing the literature it is assumed that phantom limb following injury to the brachial plexus indicates cervical root avulsion. In such cases Horner's syndrome is a good indication for lower cervical root avulsion (C8-Th2).
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  • 6
    ISSN: 1435-1463
    Keywords: Silent period ; transcallosal stimulation ; magnetic stimulation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The present study was performed in order to determine the influence of ipsilateral transcranial magnetic stimulations (TMS) on the silent period evoked by contralateral cortical stimulations. Ipsilateral TMS preceded the contralateral magnetic or electrical cortex stimulation by 0–50ms. In all subjects, the duration of the silent period was decreased in interstimulus intervals of 20–30ms when using magnetic ipsi- and contralateral stimuli. No change in the silent period was seen with ipsilateral magnetic and contralateral electrical stimulations. Decreases of motor evoked potential amplitudes were an inconsistant phenomenon. The results indicate that ipsilateral TMS in activate inhibitory cortical interneurons, probably via transcallosal pathways. Different time courses and different degrees of inhibition indicate that motor excitation and inhibition may be mediated by different neuronal circuits.
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  • 7
    ISSN: 1434-4726
    Keywords: Aural surgery ; Postsurgical complications ; Facial palsy ; Transcranial magnetic stimulation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Peripheral facial palsy can occur after aural surgery and neurosurgery. Routine neurophysiological investigation (utilizing electrical stimulation and the blink reflex) does not allow the direct assessment of the site of a lesion. In the present study transcranial magnetic stimulation (TMS) was applied in order to evaluate the usefulness of this method for prognosis. Twenty-three patients with postoperative facial pareses (after removals of an acoustic neuroma in 12 patients and parotid tumors in 11) were investigated. Ipsilateral short-latency and contralateral long-latency responses (after cortex stimulation) were elicited. At the first examination (11.7 ± 9 days after onset of the palsy) the components of the blink reflex were absent in all cases. Responses to electrical stimulation were abnormal in 80%. Ipsilateral short-latency responses after TMS could be obtained in 7 patients. Pathological long-latency TMS responses were elicited in 17 patients. Follow-up investigations up to 2 years revealed no prognostic aspects from peripheral electrical stimulation, the blink reflex and the short-latency TMS response. The absence or extent of delay in long-latency responses at first examination was strongly correlated with final clinical outcomes. As improvements of the responses preceded clinical regressions of the paresis, TMS proved to be an important neurophysiological method for an early prognosis of recovery after perioperative lesions of the facial nerve.
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  • 8
    ISSN: 1619-1560
    Keywords: sympathetic skin response ; reflex sympathetic dystrophy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The sympathetic skin response (SSR) originates from synchronized activation of the sweat glands as a response to a volley discharge in efferent sympathetic nerve fibres. The aim of the study was to verify the diagnostic value of SSR in patients with reflex sympathetic dystrophy (RSD). SSR was recorded in 20 normal subjects and in 24 patients with predominantly chronic RSD. In normal subjects inter- and intra-individually different mono-, bi- and triphasic potentials could be recorded without difference of the waveform from side to side. SSR abnormalities were found in 15 patients and correlated with the severity of the disease. In patients with slight dystrophies, SSR was predominantly normal. In intermediate dystrophies, mainly differences of the SSR waveform between sides could be recorded, indicating unilateral sudomotor dysfunction. In severe dystrophies abnormalities of SSR amplitude or latency were found, indicating more serious disturbance of sudomotor activity, possibly due to a lesion of sympathetic fibres. The SSR provides useful information on sudomotor dysfunction in patients with RSD. However, as there is no consensus in the literature for the clinical criteria to diagnose RSD, it is not yet possible to determine the final diagnostic value of SSR for the diagnoses of RSD.
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 66 (1988), S. 227-227 
    ISSN: 1432-1440
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
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  • 10
    ISSN: 1432-1459
    Keywords: Head injury, closed ; Carotid artery, internal ; Aneurysm, bilateral extracranial ; Cerebral infarction
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A 24-year-old woman with a left-sided cerebral infarction presented with hemiplegia and aphasia. Five months earlier she had had a closed head injury. Angiography revealed bilateral extracranial post-traumatic aneurysms of the internal carotid artery at the atlanto-axial level. There was full recovery without operative treatment within a week.
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