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981.
Fabry disease is a genetic disorder caused by the deficiency of α-galactosidase A, resulting in the lysosomal accumulation of glycosphingolipids. Fabry disease may result in cardiac, cerebral and renal complications. Cardiac abnormalities in patients with Fabry disease were first described in the 1960s. In the 1990s a form of Fabry disease confined to the heart was reported; however, this variant is extremely rare and a more appropriate concept is of cardiac predominance of the disease in some patients. Up to 60% of males with classic Fabry disease have cardiac abnormalities, including left ventricular hypertrophy, valvular dysfunction and conduction abnormalities. Recent data suggest that left ventricular mass and systolic function in patients with Fabry disease improve after 12 months of enzyme replacement therapy (ERT); however, many of the patients studied are relatively young and have mild cardiac abnormalities, suggesting that more research into the efficacy of ERT in older patients is necessary.
Conclusion: Cardiac manifestations are common in patients with Fabry disease and are not confined to a 'cardiac variant' of the disease. 相似文献
Conclusion: Cardiac manifestations are common in patients with Fabry disease and are not confined to a 'cardiac variant' of the disease. 相似文献
982.
Hemoglobin switching during murine embryonic development: evidence for two populations of embryonic erythropoietic progenitor cells 总被引:8,自引:4,他引:8
Explants of normal mouse embryonic tissues and disaggregated embryonic single cells were cultured in vitro to study the erythropoietic progenitor cells present during embryonic development. The results indicate that there are two populations of erythropoietic progenitor cells committed to different hemoglobin synthetic programs. These progenitor cells are present at an early gestational stage prior to the formation of the fetal hepatic primordium. One population of progenitors can be stimulated by erythropoietin alone to form usually small erythroid colonies after culture for six days in vitro. These erythroblasts primarily synthesize embryonic hemoglobins, but produce some adult hemoglobins as well. The other population of progenitors requires stimulation by both erythropoietin and adult spleen cell- conditioned medium, and usually forms large erythroid colonies after culture for six days in vitro. These erythroblasts produce only adult hemoglobins. 相似文献
983.
Kembra L Howdeshell Johnathan Furr Christy R Lambright Cynthia V Rider Vickie S Wilson L Earl Gray 《Toxicological sciences》2007,99(1):190-202
Exposure to plasticizers di(n-butyl) phthalate (DBP) and diethylhexyl phthalate (DEHP) during sexual differentiation causes male reproductive tract malformations in rats and rabbits. In the fetal male rat, these two phthalate esters decrease testosterone (T) production and insulin-like peptide 3 (insl3) gene expression, a hormone critical for gubernacular ligament development. We hypothesized that coadministered DBP and DEHP would act in a cumulative dose-additive fashion to induce reproductive malformations, inhibit fetal steroid hormone production, and suppress the expression of insl3 and genes responsible for steroid production. Pregnant Sprague Dawley rats were gavaged on gestation days (GD) 14-18 with vehicle control, 500 mg/kg DBP, 500 mg/kg DEHP, or a combination of DBP and DEHP (500 mg/kg each chemical; DBP+DEHP); the dose of each individual phthalate was one-half of the effective dose predicted to cause a 50% incidence of epididymal agenesis. In experiment one, adult male offspring were necropsied, and reproductive malformations and androgen-dependent organ weights were recorded. In experiment two, GD18 testes were incubated for T production and processed for gene expression by quantitative real-time PCR. The DBP+DEHP dose increased the incidence of many reproductive malformations by >or=50%, including epididymal agenesis, and reduced androgen-dependent organ weights in cumulative, dose-additive manner. Fetal T and expression of insl3 and cyp11a were cumulatively decreased by the DBP+DEHP dose. These data indicate that individual phthalates with a similar mechanism of action, but with different active metabolites (monobutyl phthalate versus monoethylhexyl phthalate), can elicit dose-additive effects when administered as a mixture. 相似文献
984.
E. Keystone D. Taylor-Robinson C. Pope G. Taylor P. Furr 《Arthritis \u0026amp; Rheumatology》1978,21(7):792-797
Mycoplasma pulmonis inoculated parenterally into mice deficient in the fifth component of complement (C5) caused a chronic arthritis of significantly greater magnitude than in immunologically normal mice. During the chronic phase of arthritis M pulmonis organisms were isolated from the joints and organs of C5 deficient mice more frequently and in larger numbers than from immunologically normal mice. The implications of the results are discussed in relation to the pathogenesis of M pulmonis induced arthritis and human connective tissue diseases. 相似文献
985.
Rosaria Gesuita PhD Ivana Rabbone MD Vittorio Marconi MD Luisa De Sanctis MD Monica Marino RD Valentina Tiberi MD Antonio Iannilli MD Davide Tinti MD Lucia Favella PM Carlo Giorda MD Flavia Carle PhD Valentino Cherubini MD 《Diabetes, obesity & metabolism》2023,25(6):1698-1703