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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 72 (1994), S. 409-413 
    ISSN: 1432-1440
    Keywords: Myotonic dystrophy ; Limb girdle muscular dystrophy ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A family is reported in which a 29-year-old woman showed the clinical features of myotonic dystrophy while her 26-year-old brother presented with the clinical picture of limb girdle syndrome. In the affected female, direct genetic testing for the specific myotonic dystrophy mutation on chromosome 19 revealed abnormal expansion of a repeat unit containing the three nucleotides cytosine, thymine, and guanine (CTG) — typical for myotonic dystrophy — while her diseased brother displayed two normal alleles. This supports the hypothesis of the extremely rare occurrence of two clinically and genetically different myopathies in one family. Genetic analysis of six other family members showed that the father of the diseased siblings as well as all of his three brothers and sisters had a pathological CTG repeat expansion, and that the other two family members tested had a normal allelic pattern. The number of CTG repeats in the diseased women was approximately tenfold higher than in her asymptomatic relatives who revealed an abnormal allelic pattern. The increase in CTG repeats with transmission to a subsequent generation in this family was paralleled by a dramatic increase in the severity of myotonic dystrophy.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Journal of molecular medicine 71 (1993), S. 351-361 
    ISSN: 1432-1440
    Keywords: Inflammatory myopathies ; Inclusion body myositis ; Rimmed vacuoles
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Thirty-six patients (15 females, 21 males) with inclusion body myositis (IBM) were studied. The diagnosis was established according to clinical and histopathological criteria. Clinical features were insidious onset of slowly progressive muscle weakness and wasting with depressed or absent tendon reflexes especially in the lower limbs. The pattern of muscle weakness was variable. The majority of patients (58%) showed proximal and symmetrical weakness usually most prominent in the legs. Isolated distal (6%) and asymmetrical weakness (19%) was less frequently observed. Myalgia occurred in 42% of the patients. The age at onset of symptoms ranged from 20 to 73 years (mean 47 years). Serum creatine kinase levels were normal (11%) or mildly elevated (89%). Needle electromyography revealed myopathic features in about 80% of the patients, and results of nerve conduction studies were normal in most of the cases. The predominant histopathological findings were numerous muscle fibers with rimmed vacuoles (100% of the patients), groups of atrophic fibers (92%), and inflammatory infiltrates (89%). The inflammatory infiltrates were located predominantly at endomysial sites and were composed mainly of T8 cells. Electron microscopy showed characteristic intracytoplasmic filamentous inclusions in all 36 cases. Immunosuppressive treatment in 16 patients failed to prevent disease progression in all but one patient with an associated Sjögren's syndrome. It is concluded that the consistent combination of typical histopathological findings and characteristic clinical features offers a firm basis for the diagnosis of IBM. IBM should be suspected in any adult patient presenting with clinical signs of a chronic polymyositis unresponsive to immunosuppressive therapy. The etiology and pathogenesis of IBM remain to be established.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Der Nervenarzt 71 (2000), S. 65-77 
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Status epilepticus ; Generalisierte tonisch-klonische Anfälle ; Notfalltherapie ; Pharmakotherapie ; Key words Status epilepticus ; Generalized tonic-clonic seizures ; Emergency treatment ; Pharmacotherapy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary If continuous seizure activity lasts longer than 5 minutes generalized tonic-clonic seizures require prompt treatment, if significant morbidity and mortality are to be avoided. The mortality varies (mean: 20%) depending on patient age and etiology. Control of status epilepticus is achieved by benzodiazepines in about 80% of cases: Lorazepam is recommended due to its longer-acting effects on the central nervous system. To maintain the anticonvulsive effect phenytoin is usually administered intravenously. Fosphenytoin (not approved in Germany) has advantages over phenytoin, because it can be given three times more rapidly and produces fewer side effects. The IV use of valproic acid in status epilepticus seems to be promising, but needs further evaluation. There is no generally accepted treatment protocol for the therapy of persistent seizure activity lasting more than 60 minutes (i. e., refractory status epilepticus). Usually phenobarbital, or general anesthesia with thiopental or pentobarbital are treatment recommendations. In recent reports, the administration of midazolam or propofol proved to be effective and well-tolerated.
    Notes: Zusammenfassung Ein generalisierter tonisch-klonischer Anfall bedarf bei anhaltender Dauer der epileptischen Aktivität von mehr als 5 min (Grand-mal-Status) einer umgehenden Behandlung, um Morbidität und Mortalität zu begrenzen. Die Mortalität (im Mittel 20%) hängt im Wesentlichen von der Grunderkrankung und dem Alter des Patienten ab. Benzodiazepine kontrollieren etwa 80% der Status epileptici: Lorazepam erweist sich aufgrund seiner vergleichsweise längeren ZNS-Wirksamkeit als vorteilhaft. Zur Aufrechterhaltung der antikonvulsiven Wirksamkeit erfolgt gewöhnlich eine Kombinationstherapie mit i.v. Phenytoin. Das im Vergleich zu Phenytoin rascher applizierbare und besser verträgliche Fosphenytoin (z. Z. noch nicht in der BRD verfügbar) erlangt zunehmende Bedeutung. Der Stellenwert der intravenösen Applikation von Valproinsäure ist derzeit noch nicht endgültig abschätzbar. Persistiert die epileptische Aktivität trotz adäquater Therapie länger als 60 min (therapierefraktärer Status), so kann z. Z. kein allgemein verbindliches Behandlungskonzept vorgelegt werden. Phenobarbital wird ebenso eingesetzt wie eine Narkose mit Propofol oder Midazolam, alternativ mit Pentobarbital oder Thiopental.
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Langenbeck's archives of surgery 378 (1993), S. 49-59 
    ISSN: 1435-2451
    Keywords: Denervation of abdominal wall ; Resting tone activity ; Denervation incontinence ; Pregnancy ; Constipation, continent ; Constipation, incontinent
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Die Bauchhöhle hat ein Faszienskelett, das durch ihren permanenten veränderhchen Ruhetonus verspannt gehalten wird. Zur Bauchhöhle gehören mit der seitlichen Bauchmuskulatur auch das Zwerchfell und der Beckenboden. Willkürliche und reflektorische Tonusänderungen bedingen ihre Verformung und ihren Verschluß oder ihre Eröffnung. Am Versuchstier haben wir diesen Ruhetonus schon in der Schwanzmuskulatur nachgewiesen, von der der Beckenboden des Menschen stammesgeschichtlich abstammt. Der Beckenboden bildet mit den Sphinkteren das anorektale Kontinenzorgan. Es ist, phylogenetisch erklärbar, bei der Frau viel schwächer entwickelt als beim Mann. Diese unterschiedliche Mächtigkeit ist his zu den Kernen des Rückenmarks, die diese Muskulatur steuern, zu verfolgen. Diese Asthenie des weiblichen Kontinenzorgans wird durch das Gebären und die Obstipation noch zusätzlich belastet. Das gleiche gilt für die Bauchdecke der Frau, die, wie hier nachgewiesen wird, nach einer Gravidität die gleichen, bleibenden Denervationserscheinungen ihrer Muskulatur erkennen läß t. Es sind die gleichen Schäden, die der Beckenboden mit den Sphinkteren erleidet. In schwereren Fällen ist neben der Inkontinenz also auch ein Schlotterbauch die Folge dieser Belastungen. Der ruhetonisierte Beckenboden kann das spastische Beckenbodensyndrom, die kontinente Obstipation, zur Folge haben. Sic kann psychotherapeutisch geheilt werden. Davon muß die inkontinente Obstipation unterschieden werden, die manchmal mit einem Mastdarmvorfall einhergeht. Bei ihr liegt das Hindernis im Darm. Sic kann in schweren Fällen durch eine Sigmaresektion gebessert werden. Die Denervationsinkontinenz ist am besten durch das operative Engerstellen des ganzen Levatortrichters zu bessern. Voraussetzung ist: Der gelähmte Beckenboden muß noch eine Restruheaktivität aufweisen.
    Notes: Abstract The peritoneal cavity has a fascial skeleton that is kept under tension by permanent variable resting tone maintained by the abdominal muscles. The lateral abdominal muscles, the diaphragm and the pelvic floor are all components of this fasciomuscular support system. Voluntary and reflective changes in muscle tension allow the entry and exit of matter into and out of the spherical abdominal cavity by opening and closing of specialized wall segments called sphincters. We have previously demonstrated the existence of a resting tone in the tail muscles of mammals from which the human pelvic floor muscles are derived. The pelvic floor and its integrated sphincters form the anorectal organ of continence. This organ is much weaker in females than in males. The spinal centers that govern continence, contain in the female significantly fewer ganglion cells than the corresponding centers in the male. Childbirth and a commonly found tendency to develop constipation are additional stressors for the congenitally weaker female organ of continence. We explain in this paper why the abdominal wall and the pelvic floor may suffer stretch-induced denervation injuries during pregnancy and delivery. Such damage may persist in later life and can give rise to incontinence and „flabby abdomen”. Based on our work in this field, we found a new differentiation between continent and incontinent constipation. Continent constipation is caused by spasticity of the pelvic floor characterized by abnormally high sphincter activity. This spastic pelvic floor syndrome can be treated successfully by psychotherapeutic techniques. Incontinent constipation, in contrast, is always associated with subnormal activity of the sphincters and may be a cause of rectal prolapse. It can be treated successfully by anterior rectosigmoid resection. Incontinent constipation will also require operative approximation of the levators in many cases. Improvement cannot be expected to result from this procedure, however, unless the pelvic floor shows some residual resting activity.
    Type of Medium: Electronic Resource
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