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The usual methods for prenatal diagnosis of beta-thalassemia and other hemoglobinopathies by assay of fetal blood erythrocytes are either complex (analysis of globin chains synthesis by carboxymethylcellulose chromatography) or only semiquantitative [isoelectric focusing of hemoglobin (Hb)]. To further simplify the diagnostic procedure and to obtain quantitative data, we measured the small concentrations of Hb A in fetal erythrocytes by using a high-pressure liquid chromatography (HPLC) instrument (DIAMAT-TM; Bio-Rad) equipped with the new column proposed for measuring Hb A2. We analyzed 212 uncontaminated fetal blood samples obtained by cordocentesis between the 18th and 22nd weeks of pregnancy, using the HPLC procedure, and compared the results with those obtained by the above-named methods. The Hb A values obtained ranged between 0% and 8.5%; they were less than or equal to 1.8% in 44 fetuses affected by homozygous beta-thalassemia and greater than 2.5% in 168 unaffected fetuses. The method was simple, rapid, and reproducible (CV 3.2%) and there was good correlation between Hb A concentrations determined by HPLC and the beta/gamma ratio determined by carboxymethylcellulose chromatography (r = 0.7687; P less than 0.0001). No false-negative or false-positive results were observed, and there was no overlap of values between affected and unaffected fetuses.  相似文献   
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The paper reports the results of an indirect laryngoscopic investigation performed in the two-year period 1988-89 on 347 workers in two different primary aluminium production plants. A model is proposed for classification of the laryngeal state into 4 classes of increasing severity of clinical findings. An analysis was made of the statistical relationship between laryngeal class, occupational exposure, cigarette smoking, alcohol consumption, and age. A multivariate analysis of the data was performed using the logistic regression test. Smoking and age were shown to have a statistically significant influence (p < 0.0001 and p < 0.005 respectively) on the development of chronic laryngitis. No statistically significant difference was observed for alcohol consumption and in the comparison between workers and controls.  相似文献   
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A complete screening of the CFTR gene by DGGE and DNA sequencing was performed in patients with sarcoidosis. In 8/26 cases, missense and splicing CFTR gene mutations were found, a significant difference over controls (9/89) from the same population (P = 0.014). The odds ratio for a person with a CFTR gene mutation to develop the disease is 3.95 (1.18 < OR < 13.26). Seven different CFTR gene mutations were observed: R75Q, R347P, 621 + 3 A/G, 1898 + 3 A/G, L997F, G1069R, and a novel mutation which was detected in this study, I991V. R75Q mutation was present in 3/26 patients, a significant increase (P = 0. 01) in cases over controls, indicating its preferential association with sarcoidosis. A trend towards disease progression was observed in patients with CFTR gene mutations compared to patients without mutations. These data suggest that CFTR gene mutations predispose to the development of sarcoidosis.  相似文献   
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The OSCE (Objective Structured Clinical Examination) is considered the most valid and reliable method for assessing the clinical skills of students training for health professions, but its use is limited by the related high costs. We analyzed the cost retrospectively of using an OSCE designed for second-year students (2009) in our degree course, adopting the Reznick et al. guidelines (1993), which recommend assessing both high-end costs and low-end costs. The high-end costs adopting the OSCE amounted to € 145.23 per student, while the low-end costs were € 31.51 per student. Considering the economic crisis and the cost-containment measures applied also in nursing education, strategies for further reducing costs are discussed.  相似文献   
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Serum levels of lipids, lipoproteins and apolipoproteins A-I and B were evaluated in 102 patients (75 males and 27 females; ages 58 +/- 8 and 61 +/- 7 years (mean +/- SD), respectively) with arteriosclerosis of the lower limbs of supra-aortic trunks. Compared to findings in 64 healthy, age-matched control subjects, male patients in both groups had significantly higher serum triglyceride levels (+42%, P less than 0.05), while female patients with lower limb arteriosclerosis showed significantly increased cholesterol and triglyceride concentrations (+19%, P less than 0.01 and +82%, P less than 0.05, respectively). LDL-triglycerides were also increased in all patients. HDL-cholesterol was significantly decreased in male patients with arteriosclerosis of the lower limbs (-27%, P less than 0.01) and the supra-aortic trunks (-28%, P less than 0.01), and in females of both groups (-26%, P less than 0.01 and -20%, P less than 0.01, respectively); in terms of percent, HDL2-cholesterol was reduced 2-fold compared to HDL3-cholesterol. Patient apolipoprotein A-I and B levels were unchanged. In male and female patients, correlations between triglycerides and HDL-cholesterol as well as HDL2-cholesterol were negative, but not significant; on the other hand, both correlations were negative and significant in male controls, while only the correlation between triglycerides and HDL2-cholesterol was negative and significant in the female controls. Since HDL-cholesterol, and in particular HDL2-cholesterol, concentrations seem closely related to the intravascular catabolism of triglyceride-rich lipoproteins, the absence of a significant correlation between these parameters in the patients suggests a possible alteration in this metabolic process.  相似文献   
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Background. We investigated the relationship between NT-pro-BNP, glomerular filtration rate (GFR), and all-cause mortality rates in a cohort of older people discharged from an internal medicine unit after admission for dyspnoea. Patients and Methods. NT-pro-BNP was evaluated in serum samples of 134 patients aged 80 ± 6 years who presented to a single academic centre with worsening dyspnoea. History data and anthropometric, clinical, and biochemical parameters including GFR were collected at the time of admission. 119 out of 134 were discharged alive from hospital and were included in the follow-up of 779 ± 370 days. Results. 35 out of 119 subjects died after a follow-up of 266 ± 251 days. Cox proportional hazards model showed that GFR and Ln (NT-pro-BNP) were predictors for all-cause mortality with estimated hazard ratios of 0.969 (95% confidence interval: 0.950–0.988; P = 0.001) and 2.360 (95% confidence interval: 1.208–4.610; P = 0.012), respectively. Patients characterized by high NT-pro-BNP levels and GFR ≥ 60 mL/min/1.73 m2 showed a dramatic reduction in survival duration compared with the groups with different combinations of the two variables (P = 0.008). Conclusions. In the elderly, NT-pro-BNP and GFR are predictors of all-cause mortality after admission because of dyspnoea. Since the fact that subjects with high NT-pro-BNP and GFR ≥ 60 mL/min/1.73 m2 exhibited a reduced survival, high admission NT-pro-BNP suggests future negative outcome.  相似文献   
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Bucello  Sebastiano  Annovazzi  Pietro  Ragonese  Paolo  Altieri  Marta  Barcella  Valeria  Bergamaschi  Roberto  Bianchi  Alessia  Borriello  Giovanna  Buscarinu  Maria Chiara  Callari  Graziella  Capobianco  Marco  Capone  Fioravante  Cavalla  Paola  Cavarretta  Rosella  Cortese  Antonio  De Luca  Giovanna  Di Filippo  Massimiliano  Dattola  Vincenzo  Fantozzi  Roberta  Ferraro  Elisabetta  Filippi  Maria Maddalena  Gasperini  Claudio  Grimaldi  Luigi Maria Edoardo  Landi  Doriana  Re  Marianna Lo  Mallucci  Giulia  Manganotti  Paolo  Marfia  Girolama Alessandra  Mirabella  Massimiliano  Perini  Paola  Pisa  Marco  Realmuto  Sabrina  Russo  Margherita  Tomassini  Valentina  Torri-Clerici  Valentina Liliana Adriana  Zaffaroni  Mauro  Zuliani  Cristina  Zywicki  Sofia  Filippi  Massimo  Prosperini  Luca 《Journal of neurology》2021,268(8):2922-2932
Journal of Neurology - To identify baseline factors associated with disease activity in patients with relapsing–remitting multiple sclerosis (RRMS) under teriflunomide treatment. This was an...  相似文献   
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