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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    European journal of applied physiology 77 (1998), S. 352-359 
    ISSN: 1439-6327
    Keywords: Key words Heavy-weight athletes ; Performance ability ; B-mode ultrasound ; Fat-free mass ; Muscle cross-sectional area
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The purpose of this study was to investigate the profiles of body composition and force generation capability in professional Sumo wrestlers. The subjects were 23 professional Sumo wrestlers [mean age 22.0 (SEM 1.2) years] including those ranked in the lower- (Jonokuchi, n = 10), middle- (Sandanme, n = 8) and higher-division (Makuuchi, n = 5), 22 weight-classified athletes [5 judo athletes, 5 wrestlers, and 12 weight lifters, mean age 20.7 (SEM 0.7) years], and 21 untrained men [mean age 20.1 (SEM 0.2) years]. In the Sumo wrestlers, body mass ranged between 77.0 and 150.0 kg, body mass index between 25.9 and 44.5 kg · m−2, relative fat mass (%FM) between 11.9 and 37.0%, and fat-free mass (FFM) between 59.1 and 107.6 kg. The Sumo wrestlers showed significantly higher %FM and smaller elbow and knee extensor cross-sectional areas (CSA) than the weight-classified athletes who weighed from 90.4 kg to 133.2 kg. Moreover, isokinetic forces in the flexion and extension of elbow and knee joints, respectively, at three constant velocities of 1.05, 3.14 and 5.24 rad · s−1 were significantly lower in the Sumo wrestlers than in the weight-classified athletes and untrained subjects when expressed per unit of body mass. However, the median value of FFM relative to body height in the higher-division Sumo wrestlers was ranked high in the range of magnitude among those reported previously in the literature for heavyweight athletes. Moreover, the results on the comparisons within the Sumo wrestlers showed that not only FFM but also force generation capability, expressed both as an absolute term and as a value relative to both body mass and muscle CSA, might be factors contributing to the performance of Sumo wrestlers.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1435-232X
    Keywords: Key words Acute intermittent porphyria (AIP) ; Gene analysis ; Hydroxymethylbilane synthase (HMBS) ; Molecular pathology ; Mutations
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease caused by a decreased activity of hydroxymethylbilane synthase (HMBS). Regarding the abnormalities of the HMBS gene, many different mutations have been reported worldwide; however, few families from Japan have been studied. In this work, we investigated the presence of mutations in two unrelated Japanese patients with AIP. Mutational analysis was performed using the polymerase chain reaction-single strand conformation polymorphism (SSCP) method, followed by DNA sequencing. Reliable restriction enzyme cleavage assays were also established for the pedigree analyses. Unique SSCP patterns were noted in exons 12 and 15 of the HMBS gene. Sequencing revealed different mutations in each patient: a two-base deletion of CT at nucleotide 730–731 (730delCT), and also a two-base deletion of CA at position 982–983 (982delCA). Both of the deletion mutations lead to truncated proteins with an abnormal C-terminus, which would be expected to decrease the stability and/or activity of HMBS. Using the cleavage assays, we were able to definitively identify gene carriers in the family. This study adds a novel mutation to those that have been previously reported, and emphasizes that molecular analysis would be very useful not only for the identification of asymptomatic gene carriers in the family but also for the detection of ancestral founders in porphyria families.
    Type of Medium: Electronic Resource
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