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At least 19 recordsLinked to original sources

Becker muscular dystrophy (BMD) and Klinefelter's syndrome: a possible cause of variable expression of BMD within a pedigree.

We describe a man with Becker muscular dystrophy whose weakness was minimal in contrast to that of his more severely affected nephews. This man had a Klinefelter karyotype (47,XXY) and his mild symptoms may be attributed to him being heterozygous for the muscular dystrophy gene. This is the first report of a person with both Klinefelter's syndrome and Becker muscular dystrophy. This combination may be one explanation for the variable expression of X linked muscular dystrophy noted in some pedigrees.

Creatine Kinase

[CT evaluation of bone mineral density (BMD) of lumbar spine in patients after gastrectomy].

The late postoperative complications in patients after gastrectomy include anemia and metabolic bone disorders. We studied to determine whether gastric surgery is associated with metabolic bone disease. Vertebral BMD was measured in 55 patients after gastric resection by using DEQCT (dual energy quantitative CT). Forty patients were symptomatic, having bone or joint pain, history of bone fracture, or dental caries. The control group consisted of 161 patients without metabolic bone disorders. Forty percent of the patients with either the symptoms or history of bone fracture or dental caries, and 20% of the patients without the symptoms or the history showed decreased BMD. BMD was significantly lower in males in their 60s and in females in their 50s and 70s than BMD in age-matched control groups. When male subjects were grouped according to the years following the operation (1-5, 6-10, 11-15, 16-20 years), BMD was found to be decreased in 27%, 29%, 40% and 50% of the patients after surgery. Higher incidence of decreased BMD was found in the patients after total gastrectomy when compared with those after subtotal gastrectomy. Among the patients with subtotal gastrectomy, the incidence of decreased BMD was higher in patients with Billroth II anastomosis than in those with Billroth I anastomosis. In cases with compression fracture on thoracolumbar radiographs, BMD was significantly lower in comparison with cases with no fracture. It was difficult to differentiate between osteomalacia and osteoporosis only by the thoracolumbar radiographs.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult

Serum creatine-kinase (CK) and pyruvate-kinase (PK) activities in Duchenne (DMD) as compared with Becker (BMD) muscular dystrophy.

Serum creatine-kinase (CK) activities were determined in 536 patients affected with X-linked muscular dystrophy (456 with Duchenne or DMD and 80 with Becker or BMD) and serum pyruvate-kinase (PK) in 360 among them (309 DMD and 51 BMD). The aim of this investigation was to assess the variability and rate of decrease in serum activity in DMD as compared with BMD as a function of age and in DMD as a function of Vignos scale as well. In DMD, maximum CK and PK activities were found around 1-6 years old and the average rate of decline according to age was estimated as 0.18 per year and 0.27-0.29 for both enzymes as a function of Vignos scale (assessed in 291 cases). For BMD, maximum serum enzyme levels were found around 10-15 years old and the rate of decline of serum activity per year was 0.06 for CK and 0.07 for PK. If maximum levels of serum enzyme reflect active muscle degeneration and the rate of decline per year to progressive loss of muscle mass (responsible for the release of muscle enzymes to the blood stream) our observations suggest: (a) active muscle degeneration occurs, on average, 5 years later in the group of outliers and 10 years later in BMD as compared with severe DMD; (b) the rate in which muscle mass is lost is significantly greater in DMD than in BMD and therefore serum enzyme determinations may represent an important test for evaluation of therapeutic trials; (c) serum enzymes determination may represent an important preliminary test to discriminate in a proportion of young patients if they will develop a severe or milder phenotype.

Adolescent

Measurement of bone mineral density (BMD) with quantitative computed tomography (QCT) in postmenopausal osteoporosis: effect of estrogen.

UNLABELLED: To determine the efficacy of the estrogen replacement therapy (ERT) on the bone mineral density (BMD) measured with quantitative computed tomography (QCT) in postmenopausal osteoporosis 16 women aged 46-72 were examined. They were divided into two groups: 8 women treated with conjugated estrogens (Group I) and 8 who did not received ERT (Group II). In all 16 patients the serum hormonal concentrations (LH, FSH and estradiol) were measured with radioimmunological methods. The bone densitometry was performed in all of them using the single-energy computed tomography (QCT) with the computer Picker 1200. Bone mineral density was measured in three lumbar vertebra (L1-L3) and expressed in milligrams K2HPO4 per ml. The bone mineral density (BMD) was statistically significantly higher in the estrogen treated group (Group I) in every vertebra compared with that of controls (Group II). The serum FSH concentration was statistically significantly lower in the ERT group (Group I) and a statistically significant correlation between FSH level and average BMD (Lmean) was present. IN CONCLUSION: 1. the ERT is very efficacious in preventing bone loss in postmenopausal women; 2. measurement of BMD in lumbar vertebra L1 or L3 may be a sufficiently reliable and accurate, cost-effective and time-saving method of screening for osteoporosis; 3. the serum FSH determination seems to be useful in monitoring of the estrogen therapy for postmenopausal osteoporosis.

Aged

Bone mineral density (BMD) in patients with lymphoma: the effects of chemotherapy, intermittent corticosteroids and premature menopause.

Young women with a chemotherapy-induced early menopause are theoretically at considerable risk of developing post-menopausal osteoporosis with problems developing earlier and more severely. In this study bone mineral density (BMD) measurements were made, using a dual-energy X-ray absorptiometer (DXA), at the spine and hip of 50 young women who had been treated for lymphoma, 24 of whom were post-menopausal and 78, healthy age-matched controls. On analysis of the results, there was no significant difference between the control group and the 26 post-treatment, pre-menopausal patients, but the BMD levels were significantly lower than the controls in the post-menopausal group particularly in 16 patients who had been menopausal greater than 18 months. The results confirm that these young women with treatment-induced premature menopause are at considerable risk of developing osteoporotic problems. Early recognition of this is important so that preventative measures with hormone replacement therapy can be initiated where this is safely possible. The results also indicate that chemotherapy for lymphoma (cytotoxics and high dose intermittent steroids), are unlikely to contribute directly to the lowering of the BMD of these patients.

Absorptiometry, Photon

A homologue of dystrophin is expressed at the blood vessel membrane of DMD and BMD patients: immunological evidence.

Muscles from Becker muscular dystrophy (BMD) and Duchenne muscular dystrophy (DMD) patients were analysed using monoclonal and polyclonal antibodies raised against different regions of the dystrophin molecule. On blot, two of the antibodies detected a protein of Mr 400K in muscle extracts from all patients, including a BMD patient with a deletion which spanned more than 40% of the central rod domain of the Xp21 encoded dystrophin. Immunocytochemical labelling of tissue sections from the same patients showed that the same two antibodies labelled a protein at the surface membrane of smooth muscle fibers in blood vessels of both BMD and DMD muscles. Thus we have demonstrated a 400K blood vessel-associated protein, which is immunologically homologous with dystrophin, for at least two epitopes from the carboxy terminal and the central rod domains must be encoded by another gene than the dystrophin gene.

Adult

Manifesting carrier of Becker muscular dystrophy (BMD): clinical and recombinant DNA studies.

We studied a Becker muscular dystrophy (BMD) family with a manifesting carrier. Proximal muscle weakness, pseudohypertrophy of the calves, significantly elevated serum creatine kinase and dystrophic alterations in the muscle biopsy were the characteristic phenotypical features of this manifesting carrier. The recombinant DNA study showed a recombinant chromosome with a crossover between pERT 87-8 and pERT J-Bir in the manifesting carrier. However, the proximal part of the short arm of her X chromosome was identical to a non-manifesting carrier (her sister) and to her affected brother. For this reason, we assumed the BMD mutation was proximal to the crossover. The dystrophin cDNA probes showed no deletion of DMD/BMD gene.

Adolescent

Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients.

Mutations in the muscle promoter region and exonic deletions were screened in a series of 115 unrelated DMD and BMD patients from north-east Italy. No gross mutations of the promoter region were found. In three cases in which dystrophin of normal size was expressed at low levels, the analysis of DNA sequences of the promoter region failed to detect abnormalities. The majority of deletions in coding sequences, detected by cDNA probes, occur in the deletion hot spot identified by the probe P20. Intrafamilial variability in the severity of the disease is reported and discussed.

Adolescent

Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mutations.

Following the strategy outlined in an accompanying paper, we studied 32 X-linked muscular dystrophy families (29 Duchenne [DMD] and three Becker [BMD] type) for abnormalities of HindIII and BglII fragments detected by the entire dystrophin cDNA. Twenty-one different single-intragenic deletions, and no duplications, were identified. The deletion endpoints were precisely mapped on the published HindIII fragment map. Detailed analysis of overlapping deletions led to clarification of the fragment order for some previously unsettled regions of the HindIII map and to the construction of a partial map of exon-containing BglII fragments. For the regions involved in deletions, the corresponding HindIII and BglIII fragments could be identified. Noncontiguous comigrating fragments were detected in two regions by careful analysis of the patterns in deletion patients. Four of the 21 deletions generated novel restriction fragments that facilitated detection of female carriers in these families. Twelve of the deletions had a breakpoint in one of the two large introns known to be the sites of breakpoint clusters. By combining deletions and RFLP analyses, we unequivocally identified the gamete that first carried the mutation in 13 families: eight oocytes and five sperm. Germ-line mosaicism previously detected in one male was confirmed by cDNA studies. In two additional families gonadal mosaicism was found in females. As evidence is accumulating for frequent mitotic origin of these deletion mutations, this phenomenon has to be considered when postulating mutational mechanisms and in genetic counseling of DMD/BMD families.

Bacterial Proteins

[CT evaluation of trabecular and cortical bone mineral density of the lumbar spine in patients on hemodialysis].

It is difficult to evaluate the severity of bone involvement in patients on maintenance hemodialysis (HD) by the measurement of vertebral bone mineral density (BMD), since many endocrine factors influence bone metabolism, making the value of BMD variable from high to low. It is also difficult to interpret the BMD measured in one ROI (region of interest) since bone density distribution is sometimes very heterogenous. On the other hand QCT method is useful to evaluate the value of trabecular and cortical bone mineral density separately. Vertebral BMD was measured in 138 patients on maintenance HD, by using DEQCT (dual energy QCT). 161 patients without bone metabolic disorders were studied for control group. In patients on HD, various BMD values ranging from high to low were observed, and there was no correlation between BMD value and duration of HD. The number of patients with low mineral content was greater than that with high mineral content in both cortical and trabecular bone. The trabecular BMD decreased with age, and the speed of BMD decline was the same in both sexes. The rapid decrease of trabecular BMD after menopause seen in control female group was not observed in female patients on hemodialysis. The deviation of BMD from the age-matched average BMD value was smaller in older male patients than that in young male and female patients. In order to evaluate the difference of change between the trabecular and cortical bone at the same vertebra, cases in which discrepancy of Z-score was more than 0.2 were divided into three groups; group A: increased trabecular BMD (Z-score greater than 1), group B: decreased trabecular BMD (-1 greater than Z-score), group C: normal trabecular BMD (-1 less than Z-score less than 1), and in each group T/C ratio (Z-score of trabecular BMD/Z-score of cortical BMD ratio) was evaluated. In group A, almost all cases showed trabecular BMD to be higher than cortical, and in group B, 60% cases showed trabecular BMD to be lower than cortical, suggesting that the change of BMD in trabecular bone is greater than that in cortical bone.

Adult

Radial bone mineral density in pre- and perimenopausal women: a prospective study of rates and risk factors for loss.

Radial bone mineral density (BMD) of 217 white women aged 22-54 years from a single rural community was evaluated in 1984 using single-photon absorptiometry. BMD was measured at a site one-third the distance from the wrist to the elbow, a site that represents predominantly cortical bone tissue. Most of these women (181; 83%) were reexamined 5 years later. The overall average 5 year radial BMD loss was -5.6%. The average rate of loss was -4.5% for women retaining positive estrogen status at follow-up (n = 108) and -7.4% for women who were in negative estrogen status at follow-up (n = 73). Baseline radial BMD measures were highly predictive of the follow-up BMD values (r = 0.80). Women with positive estrogen status and greater baseline BMD also had less BMD change. Greater baseline BMD did not predict the amount of change in women with negative estrogen status. The bone turnover markers osteocalcin and bone-specific alkaline phosphatase were significantly associated with BMD change in women with negative, but not positive estrogen status. There was no conclusive evidence of a "peak age" in the baseline and follow-up BMD measures. Based on rates of BMD change, "peak" bone mineral content appears to occur before age 25 years. Factors significantly associated with lower levels of BMD were menopause without estrogen replacement, nulliparity, smoking, and age at first pregnancy. Factors associated with more bone loss were menopause without estrogen replacement, smoking, shorter duration of oral contraceptive use, and older age. Quetelet index, muscle area, number of lost pregnancies, ever breast-feeding, or calcium intake were not associated with BMD level or its 5 year rate of loss. Physical activity and alcohol intake were not associated with BMD level or change after data were adjusted for age or estrogen status.

Adult

Bone mineral density of the lumbar vertebrae in children and adolescents with insulin-dependent diabetes mellitus.

To test the hypothesis that bone mineral density (BMD) is lower in children with insulin-dependent diabetes mellitus (IDDM), we measured BMD of the lumbar vertebrae (L-2 to L-4) by dual-photon absorptiometry in 31 boys and 25 girls, mean age 12.3 years, with IDDM of varying clinical duration (range 0.1 to 14.8 years). Mean standard deviation scores (z scores) were determined for L-2-L-4 BMD, weight, height, weight percentile, and weight-adjusted L-2-L-4 BMD index (L-2-L-4 BMD/weight), with reference data from a previously described white, nondiabetic, age-matched control group (n = 221). Compared with nondiabetic control subjects, male patients with short-term IDDM and all female patients with IDDM did not have significantly different L-2-L-4 BMD, weight, weight percentile, height, or BMD index. Boys with IDDM longer than 1 year had significantly lower weight, weight percentile, and height than did age-matched control subjects. When L-2-L-4 BMD of boys with long-term diabetes was corrected for weight, the L-2-L-4 BMD index was significantly greater than that of control subjects, indicating that weight was disproportionately lower than BMD. There were no significant linear correlations between metabolic control and L-2-L-4 BMD. When L-2-L-4 BMD was adjusted for differences in body weight, spinal BMD values in children with IDDM were not lower than in control subjects. These findings indicate that in children with IDDM, as in previously studied nondiabetic youths, body weight and spinal BMD are highly correlated; although BMD is reduced in some children with diabetes, the reduction parallels reductions in growth, and may simply reflect a normal response of the skeleton to a lower weight-bearing load.

Absorptiometry, Photon

Dual-energy X-ray absorptiometry in normal women: a cross-sectional study of 717 Finnish volunteers.

The bone mineral density (BMD) of the lumbar spine and proximal femur was measured using dual-energy X-ray absorptiometry in 717 healthy women aged 20-70 years. The maximal mean BMD was found at the age of 35-39 years in the spine and at the age of 20-24 in the femoral neck and Ward's triangle. No significant change in lumbar BMD was found from the age of 20 to 39 years. The spinal BMD values were relatively stable from age 20 to 39 years, whereas a linear decrease in BMD in the femoral neck and Ward's triangle was already apparent in the youngest age group (20-24 years). The major fall in BMD in all sites was related to the menopause. The overall decreases in BMD from the peak values to those at age 65-70 years were 20.4%, 19.0% and 32.6% in the lumbar spine, femoral neck and Ward's triangle, respectively. The correlation of trochanteric BMD with age was poor. BMD was positively correlated with weight in all measurement sites. Nulliparity was found to be a risk factor for osteoporosis. The present study confirmed that the menopause has a significant effect not only on spinal BMD but also on femoral BMD. Lumbar BMD was lower and BMDs in the proximal femur were higher in Finnish women than in white American women. This emphasizes the importance of national reference values for BMD measurements.

Absorptiometry, Photon

Bone density in premenopausal women: effects of age, dietary intake, physical activity, smoking, and birth-control pills.

The effects of age, calcium, smoking, and physical activity on appendicular and axial bone mineral density (BMD) were evaluated in a 2-y study of 200-300 healthy young women aged 20-39 y. There was no cross-sectional change of BMD with age or longitudinal change with bone loss. No effect of birth-control pills on BMD was seen. There also was no association of calcium intake with BMD and/or with BMD changes. Current calcium intake was not a significant influence on BMD in this age group. Daily activity had no effect on BMD and there was no apparent additive interaction of activity and calcium intake on BMD. Smokers had significantly lower spine BMD and a tendency for lower BMD at other sites. Body weight was a better predictor of BMD than was any other factor. There was no association of BMD or BMD changes with both urinary calcium and hydroxyproline normalized for creatinine.

Adult

Unequal decrease in bone density of lumbar spine and ultradistal radius in Colles' and vertebral fracture syndromes.

We measured bone mineral density (BMD) at the lumbar spine (LS-BMD) and ultradistal radius (UDR-BMD) in 42 postmenopausal normal women and in 108 postmenopausal osteoporotic women (55 with vertebral fracture, 34 with Colles' fracture, and 19 with both fractures). By receiver operating characteristic analysis, LS-BMD was better than UDR-BMD (P less than 0.01) as an indicator of vertebral fracture; the converse was true for Colles' fracture (P less than 0.01). Although UDR-BMD and LS-BMD were lower in each of the three fracture groups than in controls (P less than 0.01), the pattern of bone loss differed (P less than 0.001, analysis of variance): with vertebral fracture, LS-BMD decreased relatively more than UDR-BMD; with Colles' fracture, UDR-BMD decreased relatively more than LS-BMD; and with both fractures, decreases in LS-BMD and UDR-BMD were similar. We conclude that both types of fracture are caused by excessive bone loss but the difference in bone loss at the two sites is a major factor in determining which will fracture.

Absorptiometry, Photon