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  • 1
    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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  • 2
    Abstract: Muscle-specific deficiency of phosphorylase kinase (Phk) causes glycogen storage disease, clinically manifesting in exercise intolerance with early fatiguability, pain, cramps and occasionally myoglobinuria. In two patients and in a mouse mutant with muscle Phk deficiency, mutations were previously found in the muscle isoform of the Phk alpha subunit, encoded by the X-chromosomal PHKA1 gene (MIM # 311870). No mutations have been identified in the muscle isoform of the Phk gamma subunit (PHKG1). In the present study, we determined Q1the structure of the PHKG1 gene and characterized its relationship to several pseudogenes. In six patients with adult- or juvenile-onset muscle glycogenosis and low Phk activity, we then searched for mutations in eight candidate genes. The coding sequences of all six genes that contribute to Phk in muscle were analysed: PHKA1, PHKB, PHKG1, CALM1, CALM2 and CALM3. We also analysed the genes of the muscle isoform of glycogen phosphorylase (PYGM), of a muscle-specific regulatory subunit of the AMP-dependent protein kinase (PRKAG3), and the promoter regions of PHKA1, PHKB and PHKG1. Only in one male patient did we find a PHKA1 missense mutation (D299V) that explains the enzyme deficiency. Two patients were heterozygous for single amino-acid replacements in PHKB that are of unclear significance (Q657K and Y770C). No sequence abnormalities were found in the other three patients. If these results can be generalized, only a fraction of cases with muscle glycogenosis and a biochemical diagnosis of low Phk activity are caused by coding, splice-site or promoter mutations in PHKA1, PHKG1 or other Phk subunit genes. Most patients with this diagnosis probably are affected either by elusive mutations of Phk subunit genes or by defects in other, unidentified genes.
    Type of Publication: Journal article published
    PubMed ID: 12825073
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  • 3
    ISSN: 1432-1041
    Keywords: Key words Systemic lupus erythematosus ; Carbama-zepine
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Medicine
    Notes: Abstract This is the report of a late-onset carbamazepine-induced systemic lupus erythematosus in a 34- year-old patient who had been treated with daily carbamazepine for 8 years because of complex partial seizures. When carbamazepine was discontinued,␣symptoms rapidly improved and antinuclear antibodies disappeared. So far, few cases have been reported of carbamazepine-induced lupus erythematosus within months after the start of treatment. This is the first case report about carbamazepine-induced systemic lupus erythematosus with serological confirmation after years of treatment without side effects.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-119X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Es wird über die Resultate des histochemischen Kaliumnachweises in der Skeletmuskulatur mit der Dipikrylaminmethode, der Methode nachZimmer, sowie der Methode nachPoppen,Green undWrenn berichtet. Durch Kontrollreaktionen wird die Spezifität des Nachweises untersucht. Durch geringe Modifikationen des Nachweises vonPoppen u. Mitarb. werden die bisher besten Resultate erzielt. Der normale Skeletmuskel zeigt dabei eine gleichmäßige Kalium-Verteilung in den Muskelfasern, auch findet sich kein Unterschied zwischen roten und weißen Fasern.
    Notes: Summary There is a report about the results of three histochemical methods for the demonstration of potassium in skeletal muscle: reaction with dipicrylamine, reaction ofZimmer, and reaction ofPoppen,Green andWrenn. Control reactions had been done to demonstrate the specifity of the methods applied. The method ofPoppen et al. varied in some details gave best results. In normal skeletal muscle potassium concentration was uniform in the fibres and there was no difference between red and white fibres.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The mitochondrial DNA (mtDNA) of Japanese patients suffering from the syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis and strokelike episodes (MELAS) exhibits a specific heteroplasmic A→G transition in the tRNALeu at position 3243. In this study, we investigated mtDNA from skeletal muscle, cardiac muscle, brain, liver, diaphragm, fibroblasts and blood cells of four Caucasians with MELAS, one younger healthy sister of two MELAS patients, and eleven controls. We found that 1) the mutation was present in all investigated tissues of Caucasians with MELAS but not in controls, 2) within a single patient, the tissue-specific variation of the copy number of mutated mtDNA covered the same range as in the skeletal muscle of different patients, 3) the mutation was also present in the blood cells of the healthy sister of two MELAS siblings.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-119X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Es wird über die Resultate des histochemischen Kaliumnachweises in der Skeletmuskulatur mit der Dipikrylaminmethode, der Methode nach Zimmer, sowie der Methode nach Poppen, Green und Wrenn berichtet. Durch Kontrollreaktionen wird die Spezifität des Nachweises untersucht. Durch geringe Modifikationen des Nachweises von Poppen u. Mitarb. werden die bisher besten Resultate erzielt. Der normale Skeletmuskel zeigt dabei eine gleichmäßige Kalium-Verteilung in den Muskelfasern, auch findet sich kein Unterschied zwischen roten und weißen Fasern.
    Notes: Summary There is a report about the results of three histochemical methods for the demonstration of potassium in skeletal muscle: reaction with dipicrylamine, reaction of Zimmer, and reaction of Poppen, Green and Wrenn. Control reactions had been done to demonstrate the specifity of the methods applied. The method of Poppen et al. varied in some details gave best results. In normal skeletal muscle potassium concentration was uniform in the fibres and there was no difference between red and white fibres.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1432-119X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Es wird über die Resultate des histochemischen Kaliumnachweises in der Skeletmuskulatur mit der Dipikrylaminmethode, der Methode nachZimmer, sowie der Methode nachPoppen,Green undWrenn berichtet. Durch Kontrollreaktionen wird die Spezifität des Nachweises untersucht. Durch geringe Modifikationen des Nachweises vonPoppen u. Mitarb. werden die bisher besten Resultate erzielt. Der normale Skeletmuskel zeigt dabei eine gleichmäßige Kalium-Verteilung in den Muskelfasern, auch findet sich kein Unterschied zwischen roten und weißen Fasern.
    Notes: Summary There is a report about the results of three histochemical methods for the demonstration of potassium in skeletal muscle: reaction with dipicrylamine, reaction ofZimmer, and reaction ofPoppen,Green andWrenn. Control reactions had been done to demonstrate the specifity of the methods applied. The method ofPoppen et al. varied in some details gave best results. In normal skeletal muscle potassium concentration was uniform in the fibres and there was no difference between red and white fibres.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1432-1076
    Keywords: Myoadenylate deaminase deficiency ; Rhabdomyolysis ; DNA-analysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 13-year-old Turkish girl was admitted because of recurrent episodes of muscle pain and weakness since the age of 5 years. As an outpatient she developed severe acute rhabdomyolysis (myoglobinuria and increased serum creatine kinase level of 19000 units/l). The acute rhabdomyolysis and the preceding episodes of muscle pain and weakness had been induced by exercise. There was no increase in plasma ammonia level during ischaemic forearm exercise test and bicycle ergometry. Myoadenylate deaminase deficiency was proven both histochemically and biochemically. The girl was found to be homozygous for the C 34-T mutation of the AMPD1 gene causing primary myoadenylate deaminase deficiency in skeletal muscle. Both parents and her brother were heterozygous for that mutation. Myoadenylate deaminase deficiency has to be considered as a cause of severe rhabdomyolysis.
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Der Nervenarzt 68 (1997), S. 1004-1007 
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Amyotrophe Lateralsklerose ; Aufklärung ; Palliativtherapie ; Terminalphase ; Nichtinvasive Heimbeatmung ; Key words Amyotrophic lateral sclerosis ; Breaking the news ; Palliative therapy ; Terminal phase ; Noninvasive ventilation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Given the relentless progression of amytrophic lateral sclerosis (ALS) and the lack of causative therapy, breaking the news to ALS patients and their families is a daunting task for any physician. Obviously, such a task cannot be standardized. However, it is now recognized to be the first and one of the most sensitive and important steps in palliative care. Information should be offered in a stepwise fashion, in the presence of the patient’s family. All questions from the patient should be discussed openly, with emphasis on the positive aspects. Available therapeutic options should be reviewed, pointing out the fact that all symptoms of ALS can be alleviated by palliative therapy. At the onset of dyspneic symptoms, the terminal phase of the disease and the option of mechanical ventilation should be discussed.
    Notes: Zusammenfassung Die Aufklärung bei amyotropher Lateralsklerose (ALS) ist angesichts der schlechten Prognose eine Herausforderung für den betreuenden Arzt. Eine frühzeitige und offene Aufklärung stellt den ersten Schritt zu einer erfolgreichen palliativen Therapie dar. Die Aufklärung bei ALS ist nicht standardisierbar. Sie sollte stufenweise und unter Einbeziehung der Angehörigen erfolgen. Alle Fragen des Patienten zu seiner Erkrankung sollten – unter Betonung der positiven Aspekte – besprochen werden. Die vorhandenen Behandlungsmöglichkeiten sind in den Vordergrund zu stellen, zumal praktisch alle Symptome der ALS einer palliativen Therapie zugeführt werden können. Bei den ersten Zeichen der Atemnot ist eine Aufklärung über die Terminalphase und die verschiedenen Möglichkeiten der künstlichen Beatmung angezeigt.
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Heimbeatmung ; Neuromuskuläre Erkrankungen ; Amyotrophe Lateralsklerose ; IPPV ; Respiratorische Insuffizienz ; Key words Home ventilation ; Neuromuscular disorders ; Amyotrophic lateralsclerosis ; Positive- pressure ventilation ; Respiratory insufficiency
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary During recent years home ventilation has been shown to be useful for a growing number of patients with neuromuscular diseases and respiratory insufficiency caused by weakness of the respiratory muscles. Despite its technical simplicity, home ventilation leads to a number of social, ethical, medical and infrastructural problems. This consensus paper discusses the special situation of patients with neuromuscular diseases in home ventilation and describes the current thinking in the following topics: (1) definition of home ventilation; (2) aims of home ventilation; (3) indications and preconditions of home ventilation; (4) techniques and forms of home ventilatory support; (5) preparation for and practical questions of home ventilation; (6) stopping home ventilation.
    Notes: Zusammenfassung In den letzten Jahren wird eine zunehmende Zahl von Patienten mit neuromuskulären Erkrankungen und begleitender Ateminsuffizienz zu Hause oder in speziellen Einrichtungen dauerhaft oder intermittierend beatmet. Die praktische Durchführung einer Heimbeatmung wirft jedoch eine Fülle von organisatorischen, sozialen, ethischen und medizinischen Problemen auf. Mit dem Ziel, eine effiziente Durchführung von Heimbeatmungen zu gewährleisten, wurden die folgenden Empfehlungen der bayerischen Muskelzentren in der DGM unter besonderer Berücksichtigung der Situation von Patienten mit neuromuskulären Erkrankungen formuliert. Es wird im einzelnen zu folgenden Themenbereichen Stellung genommen: • Definition der Heimbeatmung, • Ziele der Heimbeatmung, • Indikationsstellung der Heimbeatmung und deren Voraussetzung, • technische Durchführung der Heimbeatmung, • Vorbereitung und praktische Durchführung der Heimbeatmung und • Beendung der Heimbeatmung auf Wunsch des Patienten.
    Type of Medium: Electronic Resource
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