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OBJECTIVE: To analyse the results of bone densitometry in patients with systemic sclerosis (SSc), evaluating the prognostic factors of low bone mineral density (BMD) in fertile and postmenopausal patients, and comparing to a control healthy group. METHODS: Cross-sectional study analysing 61 female SSc patients, aged 25 to 51 years, who performed a bone densitometry using dual x-ray absorptiometry. BMD values (lumbar spine, femoral neck, Ward and trochanter) infertile and postmenopausal patients were compared according to SSc clinical variant (limited and diffuse), race, previous use of drugs (corticosteroids and cyclophosphamide) and bone mass index (BMI). These results were compared with 47 fertile and 60 postmenopausal healthy women; multivariate linear regression analysis was used to study the influence of the variables of interest in the BMD results. RESULTS: Twenty-seven SSc patients presented osteopenia and 14 densitometric osteoporosis. No statistical association was found between BMD values and SSc clinical variants, race and previous use of corticosteroids and cyclophosphamide, in the fertile and in the postmenopausal groups. Fertile SSc patients were paired by age and race with the control group, but BMI (p = 0.035) was significantly lower in the SSc group. BMD values of lumbar spine (p = 0.070, statistical trend), femoral neck (p = 0.003), Ward (p < 0.001) and trochanter (p = 0.003) were significantly lower in the SSc group. Postmenopausal SSc patients were paired by age and race with the control group, but BMI (p < 0.001) was also significantly lower in the SSc group. Age at menopause (p = 0.006) was also significantly lower and time from menopause (p < 0.001) was significantly higher in the SSc group. BMD values of femoral neck (p < 0.001), Ward (p < 0.001) and trochanter (p = 0.001) were significantly lower in the SSc group. Multivariate linear regression analysis showed that BMI was the main variable influencing BMD in the fertile and postmenopausal groups. CONCLUSION: In the present study, BMD results in fertile and postmenopausal SSc patients were independent of the SSc clinical variants, race and previous use of corticosteroids and cyclophosphamide. A low BMD in appendicular sites was observed infertile and postmenopausal SSc patients when compared to a control healthy group, associated to a low BMI.  相似文献   
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Introduction

Cigarette smoking is a major risk factor in the development of chronic obstructive pulmonary disease (COPD). Serotonin levels have been associated with COPD and smoking has been as a significant modulator. Elevated levels of serotonin are responsible for bronchoconstriction and pulmonary vasoconstriction and also nicotine dependence, thus serotonin response could be affected by genetic polymorphisms in transporters and receptors of serotonin.

Objectives

The aim of the current study was to analyze the effect of SLC6A4 (5HTT_LPR) (rs25531) and HTR2A-1438G/A (rs6311) genetic polymorphisms on the relation between smoking habits and COPD.

Methods

The association between SLC6A4 (5HTT_LPR) (rs25531), HTR2A-1438G/A (rs6311), smoking degree and COPD was analyzed in a total of 77 COPD patients (active smokers) and 90 control subjects (active healthy smokers). The DNA was extracted of peripheral leukocytes samples and genotyping was performed using an allele specific polymerase chain reaction.

Results

The distribution of SLC6A4 genotypes did not vary between healthy smokers and COPD patients (P = 0.758). On the other hand, the A allele of HTR2A (rs6311) was significantly associated with COPD incidence in the trend model (P = 0.02; 1.80 [1.04–3.11]). Among all smokers, this allele was also associated with the number of pack years smoked (P = 0.02) and also, we observed a marginal association with FEV1/FVC values (P = 0.06).

Conclusion

Our results point a possible role of the A allele of HTR2A (rs6311) in COPD pathogenesis, suggesting that this effect depends partly on tobacco consumption due to a gene-by-environment interaction.  相似文献   
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Candidate gene studies have analyzed the effect of specific vitamin D pathway genes on vitamin D availability; however, it is not clear whether genetic variants also affect overall bone metabolism. This study evaluated the association between genetic polymorphisms in GC, CYP2R1 and CYP24A1 and serum levels of total 25(OH)D, iPTH and other mineral metabolism biomarkers (albumin, total calcium and phosphorus) in a sample of 273 older Spanish adults. We observed a significant difference between CYP2R1 rs10741657 codominant model and total 25(OH)D levels after adjusting them by gender (p = 0.024). In addition, the two SNPs in the GC gene (rs4588 and rs2282679) were identified significantly associated with iPTH and creatinine serum levels. In the case of phosphorus, we observed an association with GC SNPs in dominant model. We found a relationship between haplotype 2 and 25(OH)D levels, haplotype 4 and iPTH serum levels and haplotype 7 and phosphorus levels. In conclusion, genetic variants in CYP2R1 and GC could be predictive of 25(OH)D and iPTH serum levels, respectively, in older Caucasian adults. The current study confirmed the role of iPTH as one of the most sensitive biomarkers of vitamin D activity in vivo.  相似文献   
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Daily pressure variation occurs in all individuals. In glaucomatous patients this variation is marked and may exceed 20 mm of mercury. Argon laser trabeculoplasty (ALT) lowers intraocular pressure (IOP). The effect of ALT on the glaucomatous diurnal curve was studied. Incidence and magnitude of post-trabeculoplasty pressure elevation was documented. Twenty-five patients are reported. All patients were treated according to the protocol advocated by Wise. Diurnal curves were obtained 24 hours prior to ALT, and compared to curves obtained 24 hours and 8 weeks after ALT. Eight weeks after surgery the mean IOP fell 22%; the mean peak pressure fell 25%; the mean pressure range fell 30%; and the pressure fluctuations fell 25%. All values were significant at P < 0.0005. Pressure elevations greater than 5 mmHg occurred in 46% of patients. The effect of ALT on the diurnal curve of glaucomatous patients may be beneficial. Pressure spikes are frequent.  相似文献   
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