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  • 1
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Gliedergürteldystrophie ; Dystrophin ; Sarkoglykan ; Adhalin ; Emery-Dreifuss-Dystrophie ; Emerin ; Merosin ; Calpain-3 ; Muskeldystrophie Duchenne ; Muskeldystrophie Becker ; Key words Limb-girdle dystrophy ; Dystrophin ; Sarcoglycan ; Adhalin ; Emery-Dreifuss muscular dystrophy ; Emerin ; Merosin ; Calpain-3 ; Becker muscular dystrophy ; Duchenne muscular dystrophy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Recent progress in the field of molecular genetics revealed a broader spectrum of dystrophin-related disorders than previously assumed. In addition, the pathogenetic basis of other types of muscular dystrophies could be identified: some autosomal-recessive limb girdle dystrophies are caused by mutations of sarcoglycan genes, others are caused by deficiency of the sarcoplasmatic enzyme calpain-3. Emery-Dreifuss muscular dystrophy is due to the deficiency of the nuclear membrane protein emerin. About 50% of congenital muscular dystrophies are related to mutations of a extracellular matrix protein merosin (α-laminin). A series of monoclonal antibodies for immunohistochemistry is now available recognizing many cytoskeletal muscle proteins. In combination with molecular genetics a diagnostic flow chart can be developed which allows a definite diagnosis in most cases. In this review disease entities are illustrated by case reports. We discuss the significance of immunohistochemical and molecular methods for diagnosis.
    Notes: Zusammenfassung Neue Ergebnisse der molekularen Genetik haben in den vergangenen Jahren zu der Einsicht geführt, daß das klinische Spektrum der Erkrankungen, die auf Defekte des Muskelmembranproteins Dystrophin zurückgeführt werden können, erheblich breiter ist, als bisher angenommen wurde. Außerdem konnten die molekularen Ursachen anderer Unterformen der progressiven Muskeldystrophien identifiziert werden: ein Teil der autosomal-rezessiv vererbten Muskeldystrophien vom Gliedergürteltyp beruht auf Mutationen der Sarkoglykangene, andere auf Defekten der sarkoplasmatischen Protease Calpain-3; als Ursache der Emery-Dreifuss-Muskeldystrophie konnte ein Membran-Protein der Kernhülle identifiziert werden; etwa die Hälfte der kongenitalen Muskeldystrophien beruht auf Störungen des Merosins (=α2-Laminin), einer Komponente der extrazellulären Matrix. Es steht heute ein Repertoire an spezifischen Antikörpern gegen fast alle der o.g. Muskelproteine für die Immunhistologie zur Verfügung. Zusammen mit den Methoden der molekularen Genetik kann somit ein differenziertes diagnostisches Schema entwickelt werden, das in vielen Fällen zu einer definitiven Diagnose führt. Anhand eigener Fallberichte werden diese Krankheitsentitäten referiert und auf die differentialdiagnostische Bedeutung einer erweiterten immunhistochemischen und molekularen Diagnostik eingegangen.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-055X
    Keywords: Schlüsselwörter Gamma-Hydroxybuttersäure ; Alkoholentzugssyndrom ; Intensivstation ; Halluzinationen ; Hypernatriämie ; Metabolische Alkalose ; Key words Gamma-hydroxybutyrate ; Alcohol withdrawal syndrome ; Intensive care unit ; Hallucinations ; Hypernatraemia ; Metabolic alkalosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Abstract Seeing as gamma-hydroxybutyrate (GHB) and benzodiazepines interact with the GABA-transmitter system, we investigated whether GHB can replace the conventional therapy, which uses benzodiazepines in the treatment of alcohol withdrawal syndrome in ICU settings. Methods: 42 chronic alcoholics were included in this prospective and randomized study. Folllowing the development of alcohol withdrawal syndrome, the patients were randomly allocated to the GHB or to the flunitrazepam group. In addition to this, clonidine was administered in order to treat autonomic signs of withdrawal. In cases were hallucinations occurred, haloperidol was administered. Results: There was no significant difference in the efficacy of treatment used in the duration of mechanical ventilation and intensive care unit stay between groups. The patients in the GHB-group required significantly higher dosages of haloperidol and significantly lower dosages of clonidine. 14 out of 21 patients from the GHB-group developed hypernatriaemia and 15 out of 21 developed a metabolic alkalosis. Conclusions: Symptoms of the autonomic nervous system were more effectively prevented by GHB as evident in the lower dosage requirement of clonidine. However, GHB may not sufficiently block the hyperactivity of the dopaminergic system or may have an hallucinogenic effect itself. This may be evident from the higher dosages of haloperidol which were necessary. Due to the latter fact, the administration of GHB cannot be recommended in all patients suffering from AWS in ICU settings.
    Notes: Zusammenfassung Gamma-Hydroxybuttersäure (GHB) und Benzodiazepine interagieren beide mit dem gabaergen Transmittersystem. Vergleichend wurden sie zur intravenösen Therapie des Alkoholentzugssyndroms bei Patienten einer interdisziplinären operativen Intensivstation eingesetzt. Methodik: 42 alkoholabhängige Patienten, die ein Alkoholentzugssyndrom entwickelten, wurden randomisiert entweder mit GHB oder Flunitrazepam behandelt. Additiv erhielten sie symptomorientiert Clonidin oder Haloperidol. Ergebnis: Zwischen den Gruppen bestanden keine signifikanten Unterschiede in der Effektivität der Therapie und der Dauer der intensivstationären Behandlung. Die Patienten der GHB-Gruppe benötigten jedoch signifikant höhere Dosen von Haloperidol und signifikant niedrigere Dosen von Clonidin. Als Nebenwirkungen traten in der GHB-Gruppe signifikant häufiger eine Hypernatriämie (14 von 21 Patienten) bzw. eine metabolische Alkalose (15 von 21 Patienten) auf. Schlußfolgerungen: Die vegetative Symptomatik war mit GHB besser therapierbar als mit Benzodiazepinen. Als Erklärung für den erhöhten Haloperidolbedarf in der GHB-Gruppe ist eine unzureichende Blockierung des dopaminergen Systems und damit die unzureichende Dämpfung der produktiv-psychotischen Symptomatik sowie ein halluzinogener Effekt der Substanz selbst denkbar. Deshalb kann GHB nur zur Therapie des Alkoholentzugssyndroms mit vegetativer Symptomatik, jedoch nicht bei Halluzinationen empfohlen werden.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1238
    Keywords: Key words Alcoholism ; Trauma ; Intensive care unit ; Complications ; Infection ; Alcohol withdrawal syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract   Objective: A chronic alcoholic group following trauma was investigated to determine whether their ICU stay was longer than that of a non-alcoholic group and whether their intercurrent complication rate was increased. Design: Prospective study. Setting: An intensive care unit. Patients: A total of 102 polytraumatized patients were transferred to the ICU after admission to the emergency room and after surgical treatment. Of these patients 69 were chronic alcoholics and 33 were allocated to the non-alcoholic group. The chronic-alcoholic group met the DSM-III-R and ICD-10 criteria for alcohol dependence or chronic alcohol abuse/harmful use. The daily ethanol intake in these patients was ≥60 g. Diagnostic indicators included an alcoholism-related questionnaire (CAGE), conventional laboratory markers and carbohydrate-deficient transferrin. Measurement and results: Major intercurrent complications such as alcohol withdrawal syndrome (AWS), pneumonia, cardiac complications and bleeding disorders were documented and defined according to internationally accepted criteria. Patients did not differ significantly between groups regarding age, TRISS and APACHE score on admission. The rate of major intercurrent complications was 196% in the chronic alcoholic vs 70% in the non-alcoholic group (P=0.0001). Because of the increased intercurrent complication rate, the ICU stay was significantly prolonged in the chronic-alcoholic group by a median period of 9 days. Conclusions: Chronic alcoholics are reported to have an increased risk of morbidity and mortality. However, to our knowledge, nothing is known about the morbidity and mortality of chronic alcoholics in intensive care units following trauma. Since chronic alcoholics in the ICU develop more major complications with a significantly prolonged ICU stay following trauma than non-alcoholics, it seems reasonable to intensify research to identify chronic alcoholics and to prevent alcohol-related complications.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1238
    Keywords: Alcoholism ; Trauma ; Intensive care unit ; Complications ; Infection ; Alcohol withdrawal syndrome
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Objective A chronic alcoholic group following trauma was investigated to determine whether their ICU stay was longer than that of a non-alcoholic group and whether their intercurrent complication rate was increased Design Prospective study. Setting An intensive care unit. Patients A total of 102 polytraumatized patients were transferred to the ICU after admission to the emergency room and after surgical treatment. Of these patients 69 were chronic alcoholics and 33 were allocated to the non-alcoholic group. The chronic-alcoholic group met the DSM-III-R and ICD-10 criteria for alcohol dependence or chronic alcohol abuse/harmful use. The daily ethanol intake in these patients was ≥60 g. Diagnostic indicators included an alcoholismrelated questionnaire (CAGE), conventional laboratory markers and carbohydrate-deficient transferrin. Measurement and results Major intercurrent complications such as alcohol withdrawal syndrome (AWS), pneumonia, cardiac complications and bleeding disorders were documented and defined according to internationally accepted criteria. Patients did not differ significantly between groups regarding age, TRISS and APACHE score on admission. The rate of major intercurrent complications was 196% in the chronic alcoholic vs 70% in the non-alcoholic group (P=0.0001). Because of the increased intercurrent complication rate, the ICU stay was significantly prolonged in the chronic-alcoholic group by a median period of 9 days. Conclusions Chronic alcoholics are reported to have an increased risk of morbidity and mortality. However, to our knowledge, nothing is known about the morbidity and mortality of chronic alcoholics in intensive care units following trauma. Since chronic alcoholics in the ICU develop mor major complications with a significantly prolonged ICU stay following trauma than non-alcoholics, it seems reasonable to intensify research to identify chronic alcoholics and to prevent alcohol-related complications.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-1459
    Keywords: Dystrophin ; Intragenic duplication ; Becker muscular dystrophy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We describe a family with a large duplication of exons 2–16 of the dystrophin gene. It was characterized by immunocytochemistry, field-inversion gel electrophoresis and quantitative Southern blots. Our observations are of clinical interest in that they demonstrate an intermediate disease course despite a disrupted reading frame of dystrophin as postulated from exon-intron boundaries. We discuss possible mechanisms which may explain the unusual phenotype in our patient.
    Type of Medium: Electronic Resource
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