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  • 1995-1999  (2)
  • 1945-1949
  • 1996  (2)
  • 1
    ISSN: 1432-1076
    Keywords: Congenital muscular dystrophy ; Laminin ; Extracellular matrix ; MRI
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The laminins comprise of a family of heterotrimeric proteins of the extracellular matrix. The cross-shaped proteins consist of a heavy α-chain and two light chains, called β and γ. Each group of chains, classified on their sequence identity and domain organization, include different isoforms. A deficiency of the α2 chain of laminin-2, previously termed merosin or M component, was shown to be responsible for one form of congenital muscular dystrophy (CMD). We investigated muscle biopsies of 20 patients with the clinical diagnosis of CMD and histological evidence of muscular dystrophy for the expression of different laminin chains. Patients with evidence of pachygyria/lissencephaly of the CNS were excluded from this series. The immunohistochemical analysis was correlated to clinical findings and MRI data of the brain. Of 20 patients, 11 (55%) revealed complete or near-complete deficiency of the α2 chain in their skeletal muscle specimens. So far none of these patients became ambulant. Of 20 patients 2 showed partial but clear-cut α2 chain-deficiency. These two patients became ambulant at 18 months and 3 years. All 13 patients with complete or partial α2 chain-deficiency demonstrated cerebral white matter changes on MRI. In contrast, 6/7 CMD patients with normal α2 chain expression became ambulant and none of the 6/7 tested showed evidence of cerebral abnormal T2 sequence signal of the myelin on MRI.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1439-6327
    Keywords: Ventilatory threshold ; Lactate threshold ; Determinability ; Reproducibility ; Interobserver variability
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract In healthy normal individuals (n = 69), coronary patients with myocardial ischaemia (n = 27) and patients with chronic heart failure (CHF, n = 33), four widely applied methods to determine ventilatory threshold (VT) were analysed: V-slope, ventilatory equivalent for O2 (EqO2), gas exchange ratio (R) and end-tidal partial pressure of oxygen. Lactate threshold [LAT, log lactate vs log oxygen uptake ( $$\dot V{\text{O}}_2 $$ )] was also determined. Analysis focused on rate of success of threshold determination, comparability of threshold methods, reproducibility and interobserver variability. Cycle ergometry protocols with ramp-like mode and graded steady-state mode used in exercise testing were considered separately. In healthy normal individuals and coronary patients with myocardial ischaemia, at least three VT could be determined during ramp-like mode and two VT during graded steady-state mode, 82% of the time. For CHF patients, the rate of successful determination of VT was lower. Compared to LAT, $$\dot V{\text{O}}_2 $$ at VT was significantly higher using R and EqO2 methods of VT determination in healthy normal subjects (P 〈 0.01), and significantly higher when using all four methods in coronary patients (P 〈 0.01 or P 〈 0.05, respectively). No difference was observed between $$\dot V{\text{O}}_2 $$ at VT and LAT in CHF patients. In healthy normal individuals, day-to-day reproducibility of VT and LAT was high (error of a single determination from duplicate determinations was between 3.9% and 6.2% corresponding to a $$\dot V{\text{O}}_2 $$ of 52.2 and 89.2 ml·min −1). Interobserver variability was low (error between 0.3% and 5% corresponding to a $$\dot V{\text{O}}_2 $$ of 9.8 and 68 ml·min−). In CHF patients, interobserver variability was moderately greater (error between 4.6% and 8.2%, corresponding to a $$\dot V{\text{O}}_2 $$ of 35.1 and 62.4 ml·min−1). To optimize threshold determination, standardized procedures are suggested.
    Type of Medium: Electronic Resource
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