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101.
Role of sequence variations of the GnRH receptor and G protein-coupled receptor 54 gene in male idiopathic hypogonadotropic hypogonadism 总被引:6,自引:0,他引:6
Lanfranco F Gromoll J von Eckardstein S Herding EM Nieschlag E Simoni M 《European journal of endocrinology / European Federation of Endocrine Societies》2005,153(6):845-852
OBJECTIVE: To determine the frequency of mutations of the gonadotropin-releasing hormone receptor (GnRHR) and of the G protein-coupled receptor 54 (GPR54) genes in normosmic idiopathic hypogonadotropic hypogonadism (IHH). METHODS: In a retrospective study we analyzed the GnRHR and the GPR54 genes of 45 IHH patients and 50 controls. Genomic DNA was amplified by PCR to obtain partially overlapping amplicons encompassing the exon-intron boundaries of the GnRHR and GPR54 genes and analyzed by single-stranded conformation polymorphism gel electrophoresis and/or DNA sequencing. RESULTS: One heterozygous R262Q mutation of the GnRHR gene was identified in one patient with familial IHH. The silent single-nucleotide polymorphism (SNP) 453C > T occurred at the same frequency in patients and controls. One patient with sporadic IHH and consanguineous parents showed a novel homozygous sequence variation of the GPR54 gene (1001_1002insC) resulting in an open reading frame shift and elongation of 43 amino acids with an increased number of proline residues in the intracellular receptor domain. This patient had delayed puberty, low testosterone (3.4 nmol/l), and low-normal LH and FSH levels responsive to GnRH. Pulsatile GnRH administration normalized testosterone levels and induced spermatogenesis sufficiently to induce a pregnancy with assisted reproduction. Two common SNPs in exon 1 and exon 5 of the GPR54 gene showed similar frequency distribution and hormonal profiles in IHH and controls. CONCLUSIONS: Mutations of the GnRHR and of the GPR54 gene are rare in IHH and should be investigated especially in cases with autosomal recessive transmission. Common SNPs of the GnRHR and GPR54 genes do not play any role in IHH. 相似文献
102.
New insights into the pharmacokinetics of intravenous busulfan in children with sickle cell anemia undergoing bone marrow transplantation 下载免费PDF全文
Javid Gaziev MD Antonella Isgrò MD Alessia Francesca Mozzi PhD Aurèlie Petain PhD Laurent Nguyen MD Cristiano Ialongo MD PhD Vincenzo Dinallo PhD Pietro Sodani MD Marco Marziali MD Marco Andreani PhD Manuela Testi PhD Katia Paciaroni MD Cristiano Gallucci MD Gioia De Angelis MD Cecilia Alfieri MD Michela Ribersani MD Guido Lucarelli MD 《Pediatric blood & cancer》2015,62(4):680-686
103.
Angeloni S Nicolini G Merli M Nicolao F Pinto G Aronne T Attili AF Riggio O 《The American journal of gastroenterology》2003,98(8):1844-1848
OBJECTIVES: Polymorphonuclear (PMN) cell count in ascitic fluid is the most useful test for the diagnosis of spontaneous bacterial peritonitis (SBP). We evaluated the validity of an automated blood cell counter for the PMN determination in ascitic fluid by comparing it with the traditional hematologic method with a light microscope in a manual counting chamber. METHODS: A total of 130 ascitic fluid samples were collected from 74 consecutive cirrhotics. The agreement between the two techniques was assessed according to Bland and Altman's method. The sensitivity, specificity, and positive and negative predictive values of the automated blood cell counter were calculated by considering the diagnosis of SBP as a PMN count > or = 250 cells/mm(3), determined by the manual method as the "gold standard." RESULTS: The mean PMN counts assessed by the manual method and the automated blood cell counter were 124 +/- 301 cells/mm(3) and 130 +/- 339 cells/mm(3), respectively (p = 0.89, ns). The mean +/- SD of the difference between manual and automated measurements was 6 +/- 61 cells/mm(3), whereas the limits of agreement were +127 cells/mm(3) (95% CI = +108 to +147) and -115 cells/mm(3) (95%CI = -96 to -135). SBP was diagnosed in 11 patients. All but one were correctly identified with the automated blood cell counter, with a sensitivity of 94% and a specificity of 100%; positive and negative predictive values were 100% and 99.1%, respectively. CONCLUSIONS: The manual method and the automated blood cell counter have a good agreement in the PMN determination in ascitic fluid, and the automated blood cell counter is a reliable tool for rapid diagnosis of SBP. 相似文献
104.
Fabianna Resende De Jesus-Moraleida Paulo Henrique Ferreira Manuela Loureiro Ferreira Juscelio Pereira Da Silva Marcella Guimarães Assis Leani Souza Máximo Pereira 《Revista brasileira de fisioterapia (S?o Carlos (S?o Paulo, Brazil))》2018,22(1):55-63
Objective
Low back pain (LBP) is little explored in the aging population especially when considering age-relevant and culturally dependent outcomes. We aimed to describe socio-demographic and clinical characteristics of Brazilian older people with a new episode of LBP presenting to primary care.Methods
We sourced baseline information on socio-demographic, pain-related and clinical characteristics from 602 older adults from the Brazilian Back Complaints in the Elders (Brazilian BACE) study. We analyzed differences in pain, disability, functional capacity and psychosocial factors between sub-groups based on age (i.e. participants aged 55–74 or ≥75 years), education (i.e. those with four years or less of schooling or those with more than four years of schooling) and income (i.e. participants who reported earning two or less minimal wages or three and more).Results
Participants presented severe LBP (7.18/10, SD: 2.59). Younger participants were slightly more disabled (mean difference 1.29 points, 95% confidence interval [CI]: 0.03/5.56), reporting poorer physical health, and less fall-related self-efficacy (mean difference of 2.41, 95% CI 0.35/4.46). Those less educated, and those with income equal or less than two minimum wages had more disability, pain catastrophizing and worse functional capacity.Conclusions
This was the first study showing that Brazilian older adults with LBP present high levels of functional disability and psychological distress, especially those with low socioeconomic status. 相似文献105.
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108.
Vitale M Caruso A De Francesco MA Rodella L Bozzo L Garrafa E Grassi M Gobbi G Cacchioli A Fiorentini S 《British journal of haematology》2003,120(2):337-343
We investigated the effects of human immunodeficiency type-1 virus (HIV-1) matrix protein p17 on freshly isolated and purified human natural killer (NK) cells. HIV-1 p17 increased the cytokines interleukin (IL) 2, IL-12 and IL-15, and induced natural killer cell proliferation, but not cytotoxicity. This effect was specific because it was abrogated by anti-p17 monoclonal antibody. Moreover, HIV-1 p17 enhanced the cytokine-induced production of tumour necrosis factor (TNF)-alpha and interferon (IFN)-gamma by NK cells. IL-4 downregulated IFN-gamma and TNF-alpha secretion in IL-2- and IL-15-treated NK cells. HIV-1 p17 restored the ability of NK cells to produce both cytokines when added to the cultures simultaneously with IL-4. The property of p17 to increase the production of TNF-alpha and IFN-gamma might be a mechanism used by HIV-1 to modulate the immune system to support its replication and spreading. 相似文献
109.
Roldano Scognamiglio Giuseppe Fasoli Stefano Nistri Manuela Miorelli Carlo Egloff Gianfranco Buja Sergio Dalla-Volta Domenico Fedele Marcello Ferri 《Clinical cardiology》1995,18(5):276-282
In diabetic patients, the pathophysiologic mechanisms of exercise-induced left ventricular (LV) dysfunction remain controversial. In this study, the role of myocardial contractility recruitment in determining an abnormal LV response to isometric or dynamic exercise has been investigated in 14 diabetic patients with autonomic dysfunction. Ischemic heat disease was excluded by the absence of LV wall motion abnormalities induced by isotonic and isometric exercise and by coronary angiography. Left ventricular and myocardial function were studied at rest, and during isometric and isotonic exercise, by two-dimensional echocardiography; moreover, recruitment of an inotropic reserve was assessed by postextra-systolic potentiation at rest and at peak handgrip. An abnormal response of LV ejection fraction to isometric (9/14) or to dynamic (8/14) exercise was frequent in study patients. In these patients, baseline myocardial contractility was normal, and the significant increase in ejection fraction by postextrasystolic potentiation indicated a normal contractile reserve (65 ± 7% vs. 74 ± 6%, p=0.001). Nevertheless, the downward displacement of LV ejection fraction-systolic wall stress relationships during exercise suggests an inadequate increase in myocardial contractility. However, the abnormal ejection fraction at peak handgrip was completely reversed by postextrasystolic potentiation (67 ± 6% vs. 58.1 ± 10%, p=0.008), a potent inotropic stimulation independent of the integrity of adrenergic cardiac receptors. A defective inotropic recruitment, despite the presence of a normal LV contractile reserve, plays an important role in deexercise LV dysfunction in diabetic patients with autonomic neuropathy. 相似文献
110.
Lagunes-Cordoba Emmeline Davalos Alan Fresan-Orellana Ana Jarrett Manuela Gonzalez-Olvera Jorge Thornicroft Graham Henderson Claire 《Community mental health journal》2021,57(5):985-993
Community Mental Health Journal - Negative attitudes towards people with mental health disorders have been widely studied and identified in the general population, and even within health care... 相似文献