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991.
The authors discuss the nosological position and the aetiology of a complex of malformations affecting a boy, born at the end of a 40-week pregnancy with a weight of 1420 g and height of 42.5 cm, who died at the age of 3 1/2 months. The case presented an association of an acrocephalosyndactyly, phalangeal hypoplasias with anonychia, aplasia of the abdominal muscles, a genital hypoplasia with cryptorchidism and hypospadias, patches of lipodystrophy localised on the outside of the arms, at the folds of the elbow and the popliteal fossae. The autopsy revealed a large interventricular communication, absence of common mesentery and especially important cerebral anomalies (smooth brain, absence of interhemispherical suture, disorganization of the basal ganglia). The genetic study suggested a spontaneous abortion 2 1/2 months before the birth of the patient and revealed, in the mother, the presence of bilateral clinodactylies of the fingers and a unilateral syndactyly of the big toes. 相似文献
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993.
J L Dhondt J Bonneterre J P Farriaux J Lefebvre A Demaille 《Biomedicine / [publiée pour l'A.A.I.C.I.G.]》1981,35(2):58-60
The dihydropteridine-reductase activity was measured in 206 breast cancers. Large variations were found: 6% of tumors showing high values closed to those noted in liver, whereas the main group has activities of same magnitude of that in cultured fibroblasts. Significant correlation appeared between dihydropteridine-reductase activities and hormonal dependence, as measured by cytosolic estrogen receptor sites. 相似文献
994.
W. Schürch F. H. Messerli J. Genest R. Lefebvre P. Roy P. Carter J. M. Rojo-Ortega 《CMAJ》1975,113(9):879-885
A 10-year-old girl had arterial hypertension, generalized neurofibromatosis, coarctation of the abdominal aorta and multiple stenoses at the origin of each renal artery. After resection of the stenotic areas and reimplantation of the renal arteries in the aorta, her arterial pressure decreased substantially. However, hypertension recurred and radiologic follow-up 4 1/2 years later showed distinct progression of the coarctation and renewed stenosis of all renal arteries at their origin. The stenotic areas showed eccentric intimal proliferation, frequently bulging into the lumen, with small nodular aggregates of smooth muscle cells and proliferation of fibrous tissue containing spindle-shaped nuclei in a palisading pattern. Hypertension associated with neurofibromatotic vascular disease has been described in 47 other patients in the literature. These patients have been young (mean age, 14 years) and predominantly male. In contrast to fibromuscular dysplasia, in which 95% of all stenoses are found in the distal two thirds of the renal arteries, in vascular neurofibromatosis more than 50% of the stenoses are found at the origin. 相似文献
995.
A light protein of breast cyst fluid from women with gross cystic disease, termed GCDFP-15 in the literature, has been investigated. This light protein was purified by preparative electrophoresis on sodium dodecyl sulfate polyacrylamide gel. Its isoelectric point has been determined as 3.75 and its molecular weight has been estimated at 17 400. The light protein was a glycoprotein containing about 163 amino acid residues; the glucidic fraction corresponded to 11% of the molecular weight. The N-terminal amino acid was blocked and the C-terminal amino acid was determined as valine. Antisera raised against this light protein have proved to be specific. In the literature, there is evidence suggesting that apocrine secretion is of prime importance in conditioning the biochemical composition of breast cyst fluid. Further information is needed to substantiate the hypothesis that in gross cystic disease the apocrine epithelium itself or some of its functional aspects are associated with the risk of neoplasia. The physicochemical characterization of the breast cyst fluid protein can contribute to the study of its biosynthesis and provide a better understanding of the physiopathology of gross cystic disease and its relationship to breast carcinoma. 相似文献
996.
Transcriptional mechanisms of chondrocyte differentiation. 总被引:21,自引:0,他引:21
B de Crombrugghe V Lefebvre R R Behringer W Bi S Murakami W Huang 《Matrix biology》2000,19(5):389-394
997.
Yann Deleye Alexia Karen Cotte Sarah Anissa Hannou Nathalie Hennuyer Lucie Bernard Bruno Derudas Sandrine Caron Vanessa Legry Emmanuelle Vallez Emilie Dorchies Nathalie Martin Steve Lancel Jean Sbastien Annicotte Kadiombo Bantubungi Albin Pourtier Violeta Raverdy Franois Pattou Philippe Lefebvre Corinne Abbadie Bart Staels Joel T. Haas Rjane Paumelle 《The Journal of biological chemistry》2020,295(50):17310
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