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  • 1
    ISSN: 0009-8981
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 0009-8981
    Keywords: Bile acid ; Chenodeoxycholic acid ; Cholesterol ; Cholic acid ; Gas-chromatography-mass spectrometry ; Mevalonate kinase deficiency ; Stable-isotope
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 0009-8981
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 0378-4347
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Chemistry and Pharmacology
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Journal of Chromatography B: Biomedical Sciences and Applications 617 (1993), S. 1-10 
    ISSN: 0378-4347
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Chemistry and Pharmacology
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Myotone Muskeldystrophie ; CTG-Trinukleotide ; Key words Myotonic dystrophy ; CTG repeats
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Myotonic dystrophy is an autosomal dominant multisystem disorder involving muscle, brain, heart, eyes, and endocrine organs. The underlying mutation is an expanding trinucleotide CTG repeat in the 3’prime untranslated region of a serine-threonine kinase gene on chromosome 19q. A statistical correlation exists between the CTG copy number and the severity of the disease. Infants with severe congenital myotonic dystrophy have been shown to have on average a greater amplification of the CTG repeat than is seen in the non-congenital myotonic dystrophy population. However, not all patients with many CTG copies develop congenital myotonic dystrophy. We present 13 patients with more than 1500 CTG trinucleotide repeats and show their variable clinical course.
    Notes: Zusammenfassung Die myotone Muskeldystrophie ist eine autosomal dominante Multisystemerkrankung, die Muskulatur, Gehirn, Herz, Augen, Gastrointestinaltrakt und endokrine Organe betreffen kann. Die zugrundeliegende Genmutation ist eine Vermehrung von CTG-Triplets in der untranslatierten 3’Region eines Serin-Threonin-Kinase-Gens auf Chromosom 19q. Die Anzahl der CTG-Kopien korreliert statistisch mit der Schwere der Erkrankung. Kinder mit kongenitaler myotoner Muskeldystrophie haben durchschnittlich mehr CTG-Kopien als Patienten mit nichtkongenitaler Erkrankung. Allerdings haben nicht alle Patienten mit hoher Anzahl von CTG-Kopien einen kongenitalen Erkrankungsbeginn. Wir präsentieren 13 Patienten mit mehr als 1500 CTG-Trinukleotidkopien und zeigen das variable klinische Bild.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Mitochondriale Zytopathien ; Atmungskettendefekte ; Pyruvatdehydrogenasemangel ; Kofaktorsupplementation ; Therapie ; Key words Mitochondrial cytopathies ; Respiratory chain deficiency ; Pyruvate dehydrogenase deficiency ; Cofactor supplementation ; Therapy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Diagnostic tools for the studies of mitochondrial disorders of energy metabolism such as biochemical and molecular genetic techniques, have increased our knowledge on the clinical spectrum of mitochondrial cytopathies (MC) and have enabled new insights in the etiology and pathogenesis of these heterogeneous multisystem disorders. In contrast, the therapeutical influence on the usually progressive clinical courses are very limited. A causal therapy has to take into account that biochemical defects are heterogeneous (pyruvate dehydrogenase complex, pyruvate carboxylase, respiratory chain complexes), frequently show tissue-specific and/or time-depending expression and may occur in combination with each other. To this date the following therapeutical principals have been used: (1) decrease of the endogenic generation of toxic intermediates (by dietary measures); (2) increase of residual enzymatic activities (by enzyme cofactors or activators); (3) bridging the enzyme defects (by electron acceptors/donators); and (4) antioxidative and membrane-protective measures. This review presents the mechanisms of agents used so far, and discusses their therapeutical effectiveness according to the data from the literature and our experience with 26 patients suffering from different types of MC. It is shown that patients with pure myopathic manifestations of complex I deficiency as well as cardiomyopathy caused by carnitine depletion exhibit the greatest benefit from cofactor supplementation. The clinical course of patients with Kearns-Sayre syndrome may be influenced by various therapeutical procedures. In patients with diseases showing a predominantly encephalopathic presentation (like Leigh syndrome), disturbed lactate/pyruvate metabolism tends to normalise under treatment. The therapeutical influence on the clinical course however, is at best limited to temporary improvement or delaying progression. Nevertheless, effects of any particular therapy can not be predicted easily in any individual at any stage of the disease. Thus, therapeutical trials are justified because of the low rate of side effects. Gene therapeutical strategies hopefully will offer more effective treatments.
    Notes: Zusammenfassung Während enorme Fortschritte in der Aufklärung von Ätiologie und Pathogenese mitochondrialer Zytopathien (MC) erzielt wurden, sind die Möglichkeiten, die progredienten Multisystemerkrankungen therapeutisch zu beeinflussen, begrenzt. Eine kausalorientierte Therapie muß berücksichtigen, daß die biochemischen Defekte heterogen sind (Pyruvatdehydrogenase, Pyruvatarboxylase, Atmungskettenkomplexe), gewebespezifische und/oder zeitabhängige Expression zeigen und kombiniert auftreten können. Therapieprinzipien sind 1. Reduktion der endogenen Produktion von toxischen Metaboliten (durch diätetische Maßnahmen), 2. Erhöhung der enzymatischen Restaktivität (durch Kofaktoren bzw. Enzymaktivatoren), 3. Überbrückung von Enzymdefekten (durch Elektronenakzeptoren bzw. -donatoren) und 4. antioxidative und membranoprotektive Maßnahmen. Diese Übersicht stellt die Wirkmechanismen verschiedener Substanzen vor und diskutiert ihre therapeutischen Wirksamkeiten anhand von Literaturdaten und eigenen Erfahrungen bei 26 Patienten. Patienten mit myopathischen Verlaufsformen von Komplex I-Defekten, Kearns-Sayre- Syndrom und mit auf sekundärem Karnitinmangel beruhenden Kardiomyopathien profitieren am stärksten von Supplementationsmaßnahmen. Bei Patienten mit enzephalopathischen Manifestationsformen (z. B. Leigh-Syndrom) werden zwar häufig Normalisierungstendenzen des gestörten Laktat-Pyruvat-Stoffwechsels beobachtet, doch wird die klinische Symptomatik allenfalls vorübergehend gebessert oder die Progredienz gemildert. Im Einzelfall sind die therapeutischen Effekte nicht vorhersagbar, sodaß angesichts der geringen Nebenwirkungsraten Therapieversuche gerechtfertigt sind. Gentherapeutische Strategien lassen effektivere Behandlungsmaßnahmen erwarten.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Energieumsatz ; Frühgeborenenernährung ; Wachstumsrate ; Grundumsatzbedingungen ; Key words Energy expenditure ; Nutrition of very low birth weight infants ; Weight gain ; Basal metabolic rate
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Introduction: We attempted to optimize the determination of energy expenditure and substrate utilisation in VLBW infants for practical use in a tertiary care center. The influence of measuring conditions upon results as well as of caloric intake and food composition on substrate utilisation and growth were investigated. Methods: The metabolic monitor (Deltatrac II, Datex, Helsinki, Finnland) bases on a fast, differential paramagnetic O2-Sensor combined with an infrared CO2-Sensor and is used in open-circuit-mode. Measurements were performed analyzing the exspired air of 20 spontaneously breathing VLBW infants (birth weight 1086 ± 329 g) for 24 hours. The infants were continuously observed and physical activity scored every minute on a 4-point-scale. 24-hour nitrogen excretion was determined by pyrochemiluminescence. Results: Mean values and standard deviations of carbon dioxide production, oxygen consumption, respiratory ratio and energy expenditure were 7.44 ± 0.81 (Range 6.07 to 9.24) ml/kg · min, 7.53 ± 0.91 (Range 6.03 to 9.28) ml/kg · min, 0.99 ± 0.06 and 54.5 ± 6.2 kcal/kg · d. Following a diurnal rhythm carbon dioxide production, oxygen consumption, and energy expenditure were all peaking after midnight and were lowest in the early afternoon. The time period from 12 am to 6 pm gave a satisfactory model for estimation of 24-h values. The influence of individually calculated caloric intake on growing-rate of very low birthweight infants can be quantified using these methods. Conclusions: Indirect calorimetry allows the study of energy expenditure and substrate utilisation in individual VLBW infants. The biological variability of measured parameters shows a necessity to deal with the composition of food individually. Knowledge of energy expenditure, respiratory ratio and nitrogen balance are especially helpful when hypotrophy or gastrointestinal problems occur in VLBW infants.
    Notes: Zusammenfassung Fragestellung: Unser Ziel war die Optimierung einer praktikablen Bestimmung des individuellen Energieverbrauchs für eine bedarfsgesteuerte Ernährung von sehr kleinen Frühgeborenen im stationären Betrieb mit Hilfe der indirekten Kalorimetrie. Methode: Messungen wurden bei 20 sehr kleinen Frühgeborenen (Geburtsgewicht 1086 ± 329 g) über 24 h durchgeführt. Bei 11 Patienten wurde die Stickstoffausscheidung in Urin und Stuhl mittels Pyrochemilumineszenz ermittelt. Ergebnisse: Mittelwerte und Standardabweichungen für CO2-Abgabe, O2-Verbrauch, respiratorischen Quotienten und Energieumsatz der 20 sehr kleinen Frühgeborenen betrugen 7,44 ± 0,81 (Bereich: 6,07–9,24) ml/kg und min, 7,53 ± 0,91 (Bereich: 6,03–9,28) ml/kg und min, 0,99 ± 0,06 und 54,5 ± 6,2 kcal/kg und Tag. CO2-Abgabe und O2-Verbrauch zeigten eine deutliche Abhängigkeit von der Tageszeit; eine zuverlässige und praktikable Schätzung der 24-h-Werte aus kürzeren Meßintervallen war durch eine 6-h-Messung von 12–18 Uhr zu erhalten. Der Einfluß der Nahrungszusammensetzung auf die Wachstumsrate ist mit diesen Methoden quantifizierbar. Schlußfolgerungen: Indirekte Kalorimetrie und Urinstickstoffbestimmungen erlauben eine zuverlässige Bestimmung von Energieumsatz und Substratutilisation bei sehr kleinen Frühgeborenen. Kenntnis von Energieumsatz, respiratorischem Quotienten und Stickstoffbilanz könnten insbesondere für das therapeutische Regime von Nutzen sein, wenn zusätzlich zur Frühgeburtlichkeit Hypotrophie oder gastrointestinale Probleme bestehen.
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    European journal of pediatrics 157 (1998), S. 606-607 
    ISSN: 1432-1076
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 10
    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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