PubMed · 14414072
The source did not provide an abstract. Follow the original record for more information.
Explore connections, maps & timelines
A LANZETTA. 1960. [Changes in bone tissue during lifetime].. https://pubmed.ncbi.nlm.nih.gov/14414072/
Cite the original work for its findings. Save a collection to share your selection of sources.
KEEP EXPLORING
To identify quantitative trait loci (QTLs) underlying variation in bone size, we conducted a whole-genome linkage scan in 53 pedigrees with 630 subjects using 380 microsatellite markers. Lumbar area 1, 2, 3, and 4 at the spine, femoral neck, trochanter, intertrochanter areas at the hip, ultradistal, mid-distal, and one-third distal areas at the wrist were measured by dual-energy X-ray absorptiometry (DXA), and adjusted for age, height, weight, and sex. Two-point and multipoint linkage analyses were performed for skeletal bone size at each site and their composite measurements using the SOLAR package. Two chromosomal regions (1q22 and 10q21) were identified with significant evidence of linkage (LOD > 4.32) to one-third distal area, and three were identified with suggestive evidence of linkage (LOD > 2.93) to bone size in one skeletal site. Our results indicated that the low power of QTLs mapping for composite phenotypic measurements may result from genetic heterogeneity of complex traits.
BACKGROUND: In patients undergoing peritoneal dialysis (PD), low-calcium dialysate (LCD) has been proposed as the first choice for a better control of renal osteodystrophy. Our aim was to compare the effects on bone metabolism of LCD (calcium: 1.25 mmol/l) with that of a standard calcium dialysate (SCD; calcium: 1.75 mmol/l). METHODS: Forty-four PD patients were randomized to receive LCD or continue on SCD for a period of 12 months. Bone biopsies were taken at baseline and at 12 months. Biochemical data and treatment were evaluated every 3 months. RESULTS: Twenty-four patients completed the study. In the SCD group (n = 10), nine out of the 10 patients were initially diagnosed with adynamic bone lesion (ABL). After 1 year, six continued having ABL and three patients moved to high-turnover bone lesion (HTBL). The other patient, initially diagnosed with HTBL, changed to ABL. In the LCD group (n = 14), 10 patients were initially diagnosed with ABL. At 1 year, six of them continued having ABL and four patients changed to HTBL. Four patients were initially diagnosed with HTBL and did not change. Comparison between LCD and SCD groups showed an increase in serum parathyroid hormone (PTH) levels starting at month 3 and a higher intake of calcium salts in the former group (P<0.01). Serum calcium, phosphate levels and bone histological outcome did not differ between the two groups. CONCLUSIONS: LCD use for 1 year was associated with an increase in PTH levels, but did not lead to histological changes different from those observed in SCD group. The LCD solution allowed a higher oral intake of calcium salts with a satisfactory control of the serum Calcium-Phosphorus product.
Melorheostosis is a non-hereditary disorder involving the bones in a segmental pattern, whereas osteopoikilosis is a rather mild disseminated bone disorder inherited as an autosomal dominant trait. Interestingly, melorheostosis and osteopoikilosis may sometimes occur together. In analogy to various autosomal dominant skin disorders for which a type 2 segmental manifestation has been postulated, melorheostosis may be best explained in such cases as a type 2 segmental osteopoikilosis, resulting from early loss of the corresponding wild type allele at the gene locus of this autosomal dominant bone disorder.