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  • 1
    ISSN: 1432-0533
    Keywords: Key words Myotonic dystrophy ; Myotonic dystrophy protein kinase ; Immunohistochemistry ; Human brain
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract To investigate the pathophysiologic role of myotonic dystrophy protein kinase (DMPK) in the brain in myotonic dystrophy (MD), the developmental characteristics of DMPK immunoreactivity in the central nervous system and its alteration with disease were studied. Eleven patients’ brain with MD (5 congenital form, 6 adult form) were examined by immunohistochemistry using a specific antibody against synthetic DMPK peptides, anti-peptide DM1, and compared with 30 control brains, including 16 age-matched controls. In controls, DM1-immunoreactive neurons appeared in the early fetal frontal cortex and cerebellar granule cell layer, persisting through 29 weeks of gestation and then disappearing. In contrast, immunoreactive neurons continued to persist in the cerebral cortex and cerebellar granule cell layer of MD patients. When we counted DM1-immunoreactive neurons, the increase over controls was greater in the congenital form of MD than in the adult form, and was greater in the cerebrum than in the cerebellum in both forms of MD. DM1 immunostaining was predominantly nuclear, mirroring Western blotting of subcellular fractions. Differences in DM1 expression related to development and to the two forms of MD may be closely related to the pathogenesis of mental retardation in this disease.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1615-2573
    Keywords: Dilated cardiomyopathy ; Hypertrophic obstructive cardiomyopathy ; Hypertrophic nonobstructive cardiomyopathy ; Postmyocarditic myocardial hypertrophy ; Treadmill exercise test
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The treadmill exercise test with the Bruce protocol was performed in three patients with postmyocarditic myocardial hypertrophy (PMH) and ten patients with cardiomyopathy, including three with dilated cardiomyopathy (DCM), five with hypertrophic obstructive cardiomyopathy (HOCM), and two with hypertrophic and nonobstructive cardiomyopathy (HCM). The endurance time was below the normal level in all but one case and was normal or near normal in the three cases with PMH. ST depression was observed in five cases, none of which were of HCM. A marked increase in amplitude of the negative phase of the P wave in V1 was observed in one patient with DCM. The response of blood pressure during the exercise was abnormal in patients with DCM and HCM but was normal in PMH.
    Type of Medium: Electronic Resource
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