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  • 1
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    German Medical Science GMS Publishing House; Düsseldorf
    In:  Deutscher Kongress für Orthopädie und Unfallchirurgie (DKOU 2013); 20131022-20131025; Berlin; DOCWI35-387 /20131023/
    Publication Date: 2013-10-24
    Keywords: Paraplegie ; Lokomotionstraining ; Neuroplastizität ; Exoskelett ; ddc: 610
    Language: German
    Type: conferenceObject
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  • 2
    Abstract: Inherited deficiency of myophosphorylase leads to glycogen storage disease type V (McArdle's disease). We performed mutation analysis in 9 patients of eight unrelated families from Germany with typical clinical presentation of myophosphorylase deficiency. Beside previously described mutations we identified four novel mutations in the myophosphorylase gene. Four patients were homozygous for a nonsense mutation Arg49Stop that has been reported to be the most common mutation in white patients. Two affected siblings were compound heterozygotes for a novel missense mutation Gly685Arg and the nonsense mutation Arg49Stop. One patient carried a novel nonsense mutation Arg575Stop and a previously identified missense mutation Gly204Ser. In another patient, we identified a novel missense mutation Gln665Glu and a single-base deletion delA in Lys753. One patient of Turkish ancestry carried a newly identified homozygous A-to-G transition (ATG to GTG) abolishing the translation initiation codon of the myophosphorylase gene. These results suggest that Arg49Stop also is the most common genetic error associated with myophosphorylase deficiency in the German population. Our findings further demonstrate molecular heterogeneity of myophosphorylase deficiency among the clinically homogeneous patients we studied.
    Type of Publication: Journal article published
    PubMed ID: 9506549
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  • 3
  • 4
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    German Medical Science GMS Publishing House; Düsseldorf
    In:  69. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie (DGNC), Joint Meeting mit der Mexikanischen und Kolumbianischen Gesellschaft für Neurochirurgie; 20180603-20180606; Münster; DOCV245 /20180618/
    Publication Date: 2018-06-19
    Keywords: ddc: 610
    Language: English
    Type: conferenceObject
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  • 5
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    German Medical Science GMS Publishing House; Düsseldorf
    In:  GMDS 2013; 58. Jahrestagung der Deutschen Gesellschaft für Medizinische Informatik, Biometrie und Epidemiologie e.V. (GMDS); 20130901-20130905; Lübeck; DOCAbstr.72 /20130827/
    Publication Date: 2013-08-28
    Keywords: ddc: 610
    Language: German
    Type: conferenceObject
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  • 6
    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.
    Type of Medium: Electronic Resource
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  • 7
    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.
    Type of Medium: Electronic Resource
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  • 8
    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.
    Type of Medium: Electronic Resource
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  • 9
    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.
    Type of Medium: Electronic Resource
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  • 10
    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.
    Type of Medium: Electronic Resource
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