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391.
A Albanese GD Kewley A Long KN Pearl DG Robins R Stanhope 《Archives of disease in childhood》1994,71(4):315-317
Thirty three boys (mean 14.6 years old, range 12.8-16.2 years) with constitutional delay of growth and puberty were randomised into two groups to determine which form of oral treatment would give the better anthropometric response. The two drugs were administered by mouth (one tablet/day) for a mean of 3.5 months (range 3-7 months). At randomisation, 17 boys received testosterone undecanoate (40 mg/day) and 16 oxandrolone (2.5 mg/day). At the start of treatment they were prepubertal or in early puberty, their height SD score was -1.97 in boys treated with testosterone and -2.21 in those treated with oxandrolone, and their growth rates were 4.3 and 4.2 cm/year respectively. Both sex steroid and anabolic steroid treatments induced a significant growth acceleration in all patients except four (three treated with testosterone and one with oxandrolone). When treated with the alternative sex steroid, all four non-responders had a significant anthropometric response. In all boys the induced growth acceleration was sustained when treatment was interrupted. There was no significant difference in the induced growth spurt and bone maturation between the two groups. Spontaneous progress into puberty was achieved in all boys with an increase in testicular volume from a mean of 4.6 to 8.5 ml. The rate of development in secondary sexual characteristics was also similar in the two groups. These data suggest that oral testosterone and oxandrolone are equally effective in the treatment of growth delay in boys with constitutional delay of growth and puberty. 相似文献
392.
Craig M. Mcdonald MD Erik K. Henricson MPH R. Ted Abresch MS Julaine M. Florence PhD Michelle Eagle PhD Eduard Gappmaier PhD Allan M. Glanzman DPT PTC‐GD‐‐DMD Study Group Robert Spiegel MD Jay Barth MD Gary Elfring MS Allen Reha MS Stuart Peltz PhD 《Muscle & nerve》2013,48(3):343-356
Introduction: Duchenne muscular dystrophy (DMD) subjects ≥5 years with nonsense mutations were followed for 48 weeks in a multicenter, randomized, double‐blind, placebo‐controlled trial of ataluren. Placebo arm data (N = 57) provided insight into the natural history of the 6‐minute walk test (6MWT) and other endpoints. Methods: Evaluations performed every 6 weeks included the 6‐minute walk distance (6MWD), timed function tests (TFTs), and quantitative strength using hand‐held myometry. Results: Baseline age (≥7 years), 6MWD, and selected TFT performance are strong predictors of decline in ambulation (Δ6MWD) and time to 10% worsening in 6MWD. A baseline 6MWD of <350 meters was associated with greater functional decline, and loss of ambulation was only seen in those with baseline 6MWD <325 meters. Only 1 of 42 (2.3%) subjects able to stand from supine lost ambulation. Conclusion: Findings confirm the clinical meaningfulness of the 6MWD as the most accepted primary clinical endpoint in ambulatory DMD trials. Muscle Nerve 48 : 343–356, 2013 相似文献
393.
Oshima J; Yu CE; Piussan C; Klein G; Jabkowski J; Balci S; Miki T; Nakura J; Ogihara T; Ells J; Smith M; Melaragno MI; Fraccaro M; Scappaticci S; Matthews J; Ouais S; Jarzebowicz A; Schellenberg GD; Martin GM 《Human molecular genetics》1996,5(12):1909-1913
The Werner syndrome (WS) is a rare autosomal recessive progeroid disorder.
The Werner syndrome gene (WRN) has recently been identified as a member of
the helicase family. Four distinct mutations were previously reported in
three Japanese and one Syrian WS pedigrees. The latter mutation was
originally described as a 4 bp deletion spanning a spliced junction. It is
now shown that this mutation results in a 4 bp deletion at the beginning of
an exon. Nine new WRN mutations in 10 additional WS patients, both Japanese
and Caucasian, are described. These include three compound heterozygotes
(one Japanese and two Caucasian). The new mutations are located all across
the coding region.
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