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  • 1
    ISSN: 1432-1076
    Keywords: Phenylketonuria ; Myelination ; Magnetic resonance imaging ; 1H spectroscopy ; T2 relaxometry
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In order to further clarify the pathogenesis and clinical significance of MRI white matter abnormalities in treated hyperphenylalaninaemia (HPA), ten patients (seven type I HPA, two type II and one type III) underwent T2 relaxometry (n=8) and/or1H spectroscopy (n=7) in addition to conventional MR spin-echo imaging at 1.5 T. Two patients with severe MRI abnormalities had repeat examinations during and after a 6-to 8-month period of strict diet control. The clinical evaluation included a detailed neurological examination. In nine out of ten patients visual evoked potentials (VEP) were obtained parallel to the MR examination. MR imaging demonstrated typical symmetrical areas of prolonged T2 relaxation time predominantly in the posterior periventricular white matter in all but one of type I and II patients. There was no consistent relationship between MRI findings and time of diagnosis/initiation of therapy, IQ or visual evoked potential changes. MRI abnormalities tended to be more severe in patients with poor dietary control and high current plasma phenylalanine levels, whereas a normal MRI was found only in patients with plasma phenylalanine levels continuously below 0.36 mmol/l. There was marked regression of MRI abnormalities already after 3 months of strict diet control. T2 relaxometry showed a bi-exponential behaviour of T2 in the affected white matter, with a slow component of about 200–450 ms, indicating an increase in free (extracellular) water.1H spectroscopy revealed no signs of severe neuronal damage. We conclude, that the observed white matter changes in treated HPA probably represent reversible structural myelin changes rather than permanent demyelination.
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  • 2
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
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  • 3
    ISSN: 1432-1173
    Keywords: Schlüsselwörter Seborrhoisches Ekzem ; Dithranoltherapie ; Dithranoldermatitis ; Magistralrezeptur ; Key words Seborrhoic dermatitis ; Dithranol treatment ; Dithranol dermatitis ; Compounding
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Seborrhoic dermatitis is an erythemato-squamous condition of unknown etiology with a prevalence of approximately 2.5%. Frequently difficult to treat, it may respond to the application of low doses of dithranol, a substance which can induce a pustular dermatitis as an adverse side effect depending on the applied concentration and individual susceptibility. We describe a pustular dermatitis after the application of a preparation containing dithranol at an erroneously high concentration in a 30-year-old patient with seborrhoic dermatitis.
    Notes: Zusammenfassung Das seborrhoische Ekzem ist eine pathogenetisch ungeklärte erythematosquamöse Hauterkrankung mit einer Prävalenz von etwa 2,5%. Die häufig schwierig zu behandelnden Hautveränderungen sprechen gelegentlich gut auf die topische Applikation niedriger Dosen von Dithranol an, einer Substanz, die jedoch als unerwünschte Wirkung abhängig von verwendeter Konzentration und individueller Empfindlichkeit eine pustulöse Dermatitis auslösen kann. Wir berichten über das Auftreten einer pustulösen Dermatitis nach Anwendung eines fälschlich 50fach zu hoch konzentrierten Dithranolpräparates der magistralen Rezeptur bei einem 30jährigen Patienten mit seborrhoischem Ekzem.
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  • 4
    ISSN: 1432-1076
    Keywords: Phenylketonuria ; Adolescents ; Magnetic resonance imaging ; Myelination
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Cranial magnetic resonance imaging (MRI) was performed in nine treated adolescents with hyperphenylalaninaemia (HPA) in order to analyse possible changes in myelination. Three patients suffered from type I HPA, four from type II and two from type III (persistent HPA). Images were obtained with a 1.5T unit using spin-echo-sequences. In all patients with type I or type II HPA, abnormal findings in the cerebral white matter were demonstrated including band-like and/or confluent patchy areas of high signal intensity predominantly in the peritrigonal region, with anterior and posterior periventricular extension and/or involvement of the subcortical white matter. The extent of MRI changes did not correlate with the initiation, duration or quality of dietary treatment. There was also no consistent relationship between electrophysiological changes and white matter abnormalities on MRI. Our findings suggest a disturbance of myelination in patients with treated HPA. These results correspond well with earlier neuropathological and biochemical studies in untreated patients.
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  • 5
    ISSN: 1432-1076
    Keywords: Key words Hyperphenylaninaemia ; Phenylketonuria ; Evoked potentials ; Metabolic disorders ; Dopamine
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We performed studies of multimodal evoked potentials and peripheral sensory and motor nerve conductions in 33 early and 6 late treated patients with phenylketonuria. The studies revealed the following picture: 1. In 27% of early treated patients latencies of visual evoked potentials were increased. The cause for these changes is unknown. 2. Nerve conduction studies showed the presence of a minor sensory neuropathy which in rare cases may also affect peripheral motor nerves. This neuropathy did not have features of a central-peripheral distal axonopathy which argues against a toxic/nutritional causation. 3. Deficits in the central sensory, motor, and auditory pathways were present, but rare in early treated patients. If the results of electrophysiological studies reported by different groups are compared, the emerging picture is very similar and the majority of the – minor – differences is likely to be explained by technical aspects.
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  • 6
    ISSN: 1432-1173
    Keywords: Schlüsselwörter Tryptase ; Anaphylaxie ; Tissue-Remodeling ; Hauterkrankungen ; Key words Tryptase ; Anaphylaxis ; Tissue remodeling ; Skin disorders
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary The serin protease tryptase (ECNr. 3.4.21.59), which is almost exclusively expressed in mast cells, is released by mast cell degranulation in an enzymatically active form together with other mediators, e.g. histamine, into the extracellular space and the circulation. The capability of the enzyme to directly stimulate several cell types as well as to cleave polypeptide hormones and to activate pro-enzymes suggests a role for tryptase in inflammatory and tissue-remodeling processes. Therefore, in the skin, a role of tryptase is suggested not only in mastocytosis and immediate type hypersensitivity reactions, but also in other inflammatory diseases, degenerative or neoplastic conditions as well as in wound healing, where an accumulation and/or activation of mast cells is found. Extracellular tryptase may be superior to histamine as a parameter for the onset and course of immediate type reactions and as an indicator for the activation of mast cells in other conditions. Its absence during histamine-liberating reactions may suggest basophil activation. In addition, tryptase has been shown to be a sensitive and specific marker for the localization of mast cells in tissues.
    Notes: Zusammenfassung Die nahezu ausschließlich in Mastzellen exprimierte Serinprotease Tryptase (EC Nr. 3.4.21.59) wird in enzymatisch aktiver Form, gemeinsam mit anderen Mediatoren wie Histamin, während der Mastzelldegranulation in den Extrazellulärraum und die Zirkulation freigesetzt. Aufgrund der Fähigkeit, andere Zellen zu stimulieren, Polypeptid-Hormone zu spalten und Pro-Enzyme zu aktivieren, wird dem Enzym eine Funktion bei Entzündungs- und „Tissue-remodeling”-Vorgängen, d.h. Auf- und Umbau von Gewebe, zugeschrieben. Deswegen könnte Tryptase in der Haut außer bei Mastozytosen und Soforttypreaktionen auch bei weiteren entzündlichen, tumorartigen oder degenerativen Erkrankungen sowie Wundheilungsvorgängen eine Rolle spielen, bei denen Mastzellen akkumulieren und/oder aktiviert werden. Als Marker und Verlaufsparameter von Soforttypreaktionen sowie als Indikator einer Mastzellaktivierung bei anderen Erkrankungen ist extrazelluläre Tryptase offensichtlich empfindlicher und spezifischer als Histamin. Ihre Abwesenheit bei histamin-liberierenden Reaktionen legt eine mögliche Aktivierung von Basophilen nahe. Darüberhinaus ist Tryptase ein sensitiver und spezifischer Marker zur Lokalisation von Mastzellen im Gewebe.
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  • 7
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Mitochondriale Erkrankungen ; Belastungstest ; Laktat ; Sauerstoffaufnahme ; Anaerobe Schwelle ; Key words Mitochondrial disorders ; Cardiopulmonary exercise test ; Lactate ; Oxygen uptake ; Anaerobic threshold
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Cardiopulmonary exercise testing (CPX) is a non-invasive method of recording quantitative data from gas exchange and ventilation for the evaluation of oxidative metabolism at rest and during exercise. Determination of oxygen uptake (VO2) and carbon dioxide output (VCO2) describes the activity of anaerobic vs aerobic metabolism. An incremental exercise test measuring gas exchange, ventilation and lactate release was performed in healthy volunteers and in patients suffering from mitochondrial disorders. At rest as well as during exercise patients with mitochondrial disorders differ from healthy subjects with regard to gas exchange and ventilation parameters. During exercise, the decreased oxygen utilization of skeletal muscle and early activation of anaerobic metabolism in these patients are mirrored by a reduced anaerobic threshold, reduced maximal oxygen uptake and reduced oxygen pulse. Our study shows that CPX is a sensitive and practical clinical screening method of investigating mitochondrial disorders.
    Notes: Zusammenfassung Die Spiroergometrie ist eine nichtinvasive kardiopulmonale Belastungsuntersuchung mit deren Hilfe durch Messung des Atemgasaustausch und der Ventilation quantitative Daten zur Beschreibung des oxidativen Stoffwechsels in Ruhe und während Belastung erfaßt werden. Durch die Aufzeichnung von Sauerstoff (O2) und Kohlendioxid (CO2) können Rückschlüsse auf eine Aktivierung der anaeroben Glykolyse gezogen werden. Während eines ansteigenden Belastungstests wurden untrainierte Normalpersonen und Patienten mit einer mitochondrialen Erkrankung hinsichtlich Atemgaswechsel, Ventilationsanstieg und Laktatproduktion untersucht. Schon in Ruhe und während Belastung unterscheiden sich Patienten mit mitochondrialen Erkrankungen durch veränderte Atemgasparameter und Ventilation von untrainierten Normalpersonen. Die verminderte Sauerstoffverwertung des Skelettmuskels und der frühzeitige Einsatz des anaeroben Stoffwechsels dieser Patienten werden durch eine erniedrigte anaerobe Schwelle, eine erniedrigte maximale Sauerstoffaufnahme und einen reduzierten Sauerstoffpuls während Belastung erfaßt. Unsere Untersuchungen zeigten, daß die Spiroergometrie als eine sensitive und praktikable Screeningmethode in der klinischen Diagnostik mitochondrialer Erkrankungen angewandt werden kann.
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  • 8
    ISSN: 1433-044X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
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  • 9
    ISSN: 1433-0407
    Keywords: Schlüsselwörter ALS ; Neurogenetik ; Exzitatorische Aminosäuren ; Cu/Zn-SOD ; Key words Amyotrophic lateral sclerosis ; Neurogenetics ; Excitatory amino acids ; Cu/Zn SOD
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary At presently, the etiology and pathogenesis of amyotrophic lateral sclerosis (ALS) are unknown. In recent years, the genetic background of hereditary motor neuron diseases has been partly defined. In particular, these advances represent an opportunity to improve our understanding of the pathogenesis of the familial and sporadic forms of ALS and thus provide a basis for rational therapeutic approaches. In this article, recent findings on the pathogenesis of the familial form of ALS and their implications for the sporadic form are discussed.
    Notes: Zusammenfassung Die Ätiologie und Pathogenese der amyotrophen Lateralsklerose (ALS) bleibt weitgehend ungeklärt. In den zurückliegenden Jahren sind bei den genetisch bedingten Varianten dieser Erkrankung wichtige Fortschritte bei der Identifizierung ihrer molekularbiologischen Grundlagen gemacht worden. Diese Fortschritte berechtigen zu der Hoffnung, daß es in Zukunft gelingt, die Pathogenese der familiären, aber auch der sporadischen Formen der Erkrankung zu erhellen und damit rationalen Therapieansätzen weiter den Weg zu bereiten. Im Rahmen dieser Übersichtsarbeit soll sowohl auf die vorliegenden Befunde bei der familiären Form der ALS (fALS) als auch auf die mögliche Bedeutung dieser Befunde für pathogenetische Vorstellungen bei der sporadischen Form der ALS (sALS) eingegangen werden.
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  • 10
    ISSN: 1432-0533
    Keywords: Key words Motor neuron disease ; Vertical gaze palsy ; Progressive supranuclear palsy ; Multiple system atrophy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The case of a 38-year-old patient with rapidly progressing motor neuron disease, complicated by major dysfunction of the extrapyramidal system and of vertical gaze is described. Neuropathological examination revealed a degenerative process that severely affected the lower motor neurons, as well as the neurons of the pars compacta of the substantia nigra, the nucleus of Darkschewitsch, the nucleus interstitialis of Cajal, the colliculi superiores, and the pallidum. The long tracts were unaffected at all levels of the brain stem and spinal cord. There was no convincing evidence for the presence of a multiple system atrophy or progressive supranuclear palsy; the results rather revealed a pattern of vulnerability characteristic of a variant of motor neuron disease.
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