PubMed · 361597
The source did not provide an abstract. Follow the original record for more information.
Explore connections, maps & timelines
J E Wright, W B Stewart. 1978. Orbital surgery.. https://pubmed.ncbi.nlm.nih.gov/361597/
Cite the original work for its findings. Save a collection to share your selection of sources.
KEEP EXPLORING
CDMP-1, a cartilage-specific member of the TGFss superfamily of secreted signaling molecules, plays a key role in chondrogenesis, growth and patterning of the developing vertebrate skeleton. Homozygous CDMP-1 mutations cause Hunter-Thompson and Grebe types of acromesomelic chondrodysplasia and DuPan syndrome in humans, as well as brachypodism in mice, while heterozygous mutations cause brachydactyly type C (BDC). We present clinical and radiographic data from three unrelated families in which 12 members share the same heterozygous CDMP-1 mutation, an insertion (insG206), resulting in a frameshift predicted to cause functional haploinsufficiency. Although eight mutation carriers display BDC, four have normal hands and feet, confirming nonpenetrance of BDC with CDMP-1 mutations. In addition, several carriers have other skeletal abnormalities, including severe bilateral vertical talus (in two), developmental hip dysplasia (in one), and short stature (in two, who are otherwise unaffected). Premature vertebral end-plate disease was observed in four mutation carriers and was associated with spondylolysis and spondylolisthesis in three of these. Axial skeletal involvement has not been previously reported in association with CDMP-1 mutations. This finding is consistent with CDMP-1 expression in human hypertrophic chondrocytes, which are present in the ring epiphyses of vertebral end plates. Phenotypic variation in BDC has previously been attributed either to locus heterogeneity or to the varied functional effects of different CDMP-1 mutations. The remarkable range of phenotypes caused by this identical CDMP-1 mutation in these families emphasizes the crucial role of genetic background, stochastic variation and/or environmental factors in modifying the observed phenotype. Our findings illustrate that nonpenetrance for the typical features of BDC can be appreciable and that atypical skeletal features that have been reported in some patients with BDC (i.e., clubfoot, short stature, spondylolysis) may also result from CDMP-1 mutation.
Bone disease is common after renal transplantation. The main syndromes are bone loss with a consequent fracture rate of 3% per year, osteonecrosis of the hip, and bone pain. The causes of disease include preexisting uremic osteodystrophy (hyperparathyroidism, aluminum osteomalacia, beta2-associated amyloidosis, and diabetic osteopathy), postoperative glucocorticoid therapy, poor renal function, and ongoing hyperparathyroidism, as the result of either autonomous transformation of the parathyroid gland or ongoing physiologic stimuli. Cyclosporine A treatment, hyperphosphaturia, and a pathogenic vitamin D allele have also been implicated. Bone loss is particularly pronounced during the first year after operation, amounting to up to 9% of bone mass. The clinical and biochemical picture is consistent with a high turnover bone disease, but histomorphometric studies do not completely support this. Principal prophylactic options include preoperative osteodystrophy prophylaxis; postoperative calcium, vitamin D, or calcitriol therapy; estrogen therapy for postmenopausal women; and parathyroidectomy for medically intractable hyperparathyroidism. Recently, prophylactic biphosphonate treatment has shown promise, but the exact indications for treatment remain to be determined.
To determine the prevalence of CD4 lymphocyte levels less than 350 cells/mm3 accompanying viral loads (VL) less than 500 copies/ml (discordant CD4 lymphocyte levels/VL) in HIV-infected men with bone pathologies, we conducted a review of the records of 3512 men. We found discordant CD4 lymphocyte levels/VL in 26 (36.1%) out of 72 with bone pathologies, and in 704 (20.5%) out of 3440 without bone pathologies (P < 0.01), and concluded that HIV sequestered in bone was a possible explanation.