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Despite much evidence of cognitive and affective disorders in Friedreich's ataxia (FRDA), the nature of mental status in FRDA has received little systematic attention. It has been proposed that the cerebellum may interfere indirectly with cognition through the cerebello-cortical loops, whereas the role of pathological changes in different areas of the(More)
We randomized 18 Duchenne muscular dystrophy (DMD) boys whose age ranged from 5.2 to 14.6 years (mean, 7.3 years) for treatment with either deflazacort (0.9 mg/kg/day) or prednisone (0.75 mg/kg/day) on the basis of age and functional score at the onset of treatment. We followed the patients every 3 months for 1 year, evaluating four limb muscles with the(More)
Limb girdle muscular dystrophy (LGMD) type 2A (LGMD2A) is caused by mutations in the CAPN3 gene encoding for calpain-3, a muscle specific protease. While a large number of CAPN3 gene mutations have already been described in calpainopathy patients, the diagnosis has recently shifted from molecular genetics towards biochemical assay of defective protein.(More)
The bone mineral content was evaluated in 30 male subjects aged between 60 and 90 years using the relief of the percent cortical area (PCA) at the level of the second phalanx of the left-hand index finger, by Garn's method. This was to evaluate the rate of bone loss with increasing age. Testosterone, androstenedione, estrone, 17 beta-estradiol plasma levels(More)
With a view to investigating the cause of persistent infertility, the authors studied a group of 27 patients who had, previously, undergone surgical ligation of the spermatic vein for varicocele and infertility. Of these subjects, who failed to father after surgery, 12 presented persisting varicocele at the clinical examination. In 6 cases, the seminal(More)
Sex hormone binding globulin (SHBG), plasma testosterone and saliva testosterone were measured in sixty-four men with androgenetic alopecia and in forty males within the same age range without alopecia. There was a significant reduction in SHBG levels in bald men, compared with controls. Plasma testosterone levels were not raised in bald men, but their(More)
One hundred forty-five male volunteers, 60 to 91 years old, without any hepatic, renal, or metabolic pathology, and not under any steroid therapy for at least 1 year were studied. Plasma luteinizing hormone (LH), Follicle Stimulating hormone (FSH), Testosterone (T), 17-beta-Estradiol (E2), Androstenedione (A), Maximal increase (MI) of LH and FSH after(More)
Factor X antigen was assayed by means of an Elisa (sandwich) method in 36 patients on long-term anticoagulant therapy. The average value observed was 31.4% +/- 12.2. In almost every instance the antigen level was higher than the clotting counterpart (14.4% +/- 4.5). In a few instances no major difference was noted between factor X antigen and factor X(More)