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排序方式: 共有1794条查询结果,搜索用时 31 毫秒
31.
32.
F Sparano F Sciarra J Sulon G Giaquinto M A Mercuri A Odoardi C Tosticroce P Genard C Conti 《The Journal of clinical endocrinology and metabolism》1978,47(4):829-833
Diurnal 18-hydroxy-11-deoxycorticosterone (18-OH-DOC) pattern was studied with RIA technique in 33 hypertensive patients in supine position and on normal sodium diet. The compound was evaluated every 2 h from 0800-2000 h. Simultaneously, plasma aldosterone and cortisol were measured. Abnormal 18-OH-DOC behavior was observed in only 2 out of 4 patients with Cushing's disease, while sporadic and slight elevations, synchronous with F, were seen in 5 out of 24 stable essential hypertensive patients [1 with normal plasma renin activity (PRA), 1 with low PRA, and 3 with high PRA]. 18-OH-DOC was normal in 2 cases of hypertension due to renal artery stenosis, in 1 patient with nephrosclerosis, and in 1 patient with horseshoe kidney. From these results, 18-OH-DOC does not seem to play an important pathogenetic role in stable essential hypertension, considering also the low mineralocorticoid activity of the compound. 相似文献
33.
Claudia Brogna Giorgia Coratti Rachele Rossi Marcella Neri Sonia Messina Adele D’ Amico Claudio Bruno Simona Lucibello Gianluca Vita Angela Berardinelli Francesca Magri Federica Ricci Marina Pedemonte Tiziana Mongini Roberta Battini Luca Bello Elena Pegoraro Giovanni Baranello Eugenio Mercuri 《Neuromuscular disorders : NMD》2021,31(6):479-488
The aim was to assess 3-year longitudinal data using 6MWT in 26 ambulant boys affected by DMD carrying nonsense mutations and to compare their results to other small mutations. We also wished to establish, within the nonsense mutations group, patterns of change according to several variables. Patients with nonsense mutations were categorized according to the stop codon type newly created by the mutation and also including the adjacent 5′ (upstream) and 3′ (downstream) nucleotides. No significant difference was found between nonsense mutations and other small mutations (p > 0.05) on the 6MWT. Within the nonsense mutations group, there was no difference in 6MWT when the patients were subdivided according to: Type of stop codon, frame status of exons involved, protein domain affected. In contrast, there was a difference when the stop codon together with the 3′ adjacent nucleotide (“stop+4 model”) was considered (p < 0.05) with patients with stop codon TGA and 3′ adjacent nucleotide G (TGAG) having a more rapid decline. Our finding suggest that the stop+4 model may help in predicting functional changes. This data will be useful at the time of interpreting the long term follow up of patients treated with Ataluren that are becoming increasingly available. 相似文献
34.
Dafne D.G. Horovitz Emília K.E.A. Leão Erlane M. Ribeiro Ana M. Martins Anneliese L. Barth João I.C.F. Neri Marcelo Kerstenetzky Ana C.M. Siqueira Bethania F.R. Ribeiro Chong A. Kim Francisca C. Santos José F.S. Franco Leniza C.L. Lichtvan Liane R. Giuliani Maria Do C.S. Rodrigues Renata C.F. Bonatti Thaís B. Teixeira Alexandra Gonçalves Angelina X. Acosta 《Molecular genetics and metabolism》2021,132(1):94-99
Patients with mucopolysaccharidosis type VI (MPS VI) present with a wide range of disease severity and clinical manifestations, with significant functional impairment and shortened lifespan. Enzyme replacement therapy (ERT) with galsulfase has been shown to improve clinical and biochemical parameters including patient survival, quality of life and growth. The present study is a resurvey of 34 Brazilian MPS VI patients with rapidly progressive disease (classical phenotype) who initiated ERT with galsulfase under five years of age and had been on ERT until data collection in 2019, with few exceptions (n = 4 patients who died before 2019).Anthropometric measures, urinary glycosaminoglycans, and data regarding cardiac, orthopedic, neurologic, sleep apnea, hearing and ophthalmologic outcomes were filled in by specialists. Pubertal development, clinical complications, hospitalizations, and surgeries were also assessed.In this resurvey study, treatment with galsulfase has shown to be safe and well tolerated in MPS VI patients who initiated ERT under the age of 5 years and who have been undergoing ERT for approximately 10 years. Mortality rate suggests that early initiation of ERT may have a positive impact on patients' survival, improving but not preventing disease progression and death. MPS VI patients on ERT also showed improved growth velocity and the pubertal development was normal in all surviving patients.Follow-up data on pneumonia and hospitalization suggest that early ERT may have a protective effect against major respiratory complications. Cardiac valve disease progressed since their prior evaluation and spinal cord compression was observed in a large number of patients, suggesting that these disease complications were not modified by ERT. 相似文献
35.
Effect of steroid hormones and antihormones on hypothalamic beta-endorphin concentrations in intact and castrated female rats 总被引:1,自引:0,他引:1
A R Genazzani F Petraglia N Mercuri G Brilli A D Genazzani M Bergamaschi B M DeRamundo A Volpe 《Journal of endocrinological investigation》1990,13(2):91-96
The aim of the present study was to evaluate the effects of estrogens and androgens on hypothalamic beta-endorphin (beta-EP) concentrations. Intact or castrated female rats were chronically (2 weeks) treated with estrogen (estradiol benzoate) and/or antiestrogens (clomiphene, cyclophenil or epimestrol), and with androgens (dihydrotestosterone or dehydroepiandrosterone sulphate) and/or antiandrogen (cyproterone acetate). A group of rats treated with vehicle were studied as comparison. The beta-EP concentrations were measured by radioimmunoassay on acidic extracts of rat hypothalami. The administration of clomiphene and cyclophenil significantly reduced hypothalamic beta-EP concentrations in intact rats, while both drugs or estradiol benzoate increased the peptide concentration in castrated rats. Both intact and castrated rats treated with epimestrol showed hypothalamic beta-EP concentrations higher than vehicle treated rats. The estradiol-induced increase of beta-EP was not changed by the concomitant administration of antiestrogens. The administration of dihydrotestosterone significantly decreased beta-EP concentrations in both intact and castrated female rats, while the treatment with dehydroepiandrosterone sulphate only slightly decreased beta-EP levels in intact female rats. The cyproterone acetate-chronically treated rats showed higher beta-EP concentrations than vehicle-treated rats and these changes were reversed by the concomitant addition of dihydrotestosterone or dehydroepiandrosterone sulphate. These results showed that estrogens play a positive role while androgens negatively influence the hypothalamic beta-EP concentrations in female rats, supporting the view that central beta-EP might be a target of gonadal steroid feedback signals. 相似文献
36.
Mechanism of luminal patency of the self‐expanding sideguard sidebranch stent: Evaluation by intravascular ultrasound and optical coherence tomography
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37.
Alessandra Ferraro Anna Morena D’Alise Towfique Raj Natasha Asinovski Roxanne Phillips Ayla Ergun Joseph M. Replogle Angelina Bernier Lori Laffel Barbara E. Stranger Philip L. De Jager Diane Mathis Christophe Benoist 《Proceedings of the National Academy of Sciences of the United States of America》2014,111(12):E1111-E1120
38.
Sarah Tan Lin Xie Robert Anderson Andrew Hammond Angelina Y. Fong Seok Lim Andrew M. Allen Stephen B. Harrap 《Internal medicine journal》2020,50(1):114-117
Whether part of the blood pressure lowering effects of glyceryl trinitrate (GTN) is the result of centrally mediated reduction in sympathetic activity is debated. In humans, baroreflex activity potentially obscures the central sympatholytic effects of GTN. We examined this in a routine clinical tilt test in a patient with baroreflex failure secondary to previous neck radiotherapy. With reduced baroreflex function we observed an exaggerated fall in blood pressure and reduced sympathetic activity with GTN, supporting a peripheral vasodilation and central sympatholytic effect. 相似文献
39.
40.
Silva Nisa Ferreira André Marques João Heitor Ferreira Natália Correia Nuno Pessoa Bernardete Beirão João Melo Kuhn Ferenc Meireles Angelina 《Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie》2021,259(7):1731-1740
Graefe's Archive for Clinical and Experimental Ophthalmology - To assess the outcomes of vitrectomy with or without cataract surgery for the treatment of idiopathic ERM in phakic eyes and... 相似文献