1.Bone mineral density in adult males: multi-factors analysis in the low-to-moderate fluoride exposure areas of Henan Province
Chenxi WANG ; Luoming ZHANG ; Xiaochen FAN ; Nan JIANG ; Yazhe DU ; Benli MA ; Renjie SUN ; Qiting ZUO ; Guoyu ZHOU ; Yue BA
Chinese Journal of Endemiology 2021;40(2):104-108
Objective:To explore the factors affecting bone mineral density (BMD) in adult males with low-to-moderate fluoride exposure in Henan Province.Methods:Adult male villagers from low-to-moderate fluoride exposure areas in Tongxu County, Kaifeng City, Henan Province were recruited from April to May 2017 based on cluster random sampling. Questionnaire survey, physical measurements and urinary samples collection were conducted respectively. Urinary fluoride (UF) was determined by fluoride ion-selective electrode. Ultrasound bone densitometer was used to measure BMD (T-score). Partial correlation analysis and multiple linear regression were used to analyze the influence factors of BMD.Results:A total of 439 adult males were included in this study. Age, body mass index (BMI), UF content, and T-score of the participants were (47.99 ± 8.49) years, (25.77 ± 3.23) kg/m 2, (1.34 ± 0.74) mg/L, and-1.79 ± 0.79, respectively. Partial correlation analysis showed a significantly positive correlation between BMI and T-score after age adjustment ( r = 0.194, P < 0.05). Multiple linear regression showed that T-score decreased by 0.015 (95% CI:-0.024 -- 0.005, P < 0.05) for each 1-year increase in age and T-score increased by 0.034 (95% CI: 0.009-0.059, P < 0.05) for each 1.0 kg/m 2 increase in BMI. Interaction analysis showed that T-score was closely related to the interaction between overweight (≥24.0 kg/m 2), non-smoking, tea drinking and UF [ β (95% CI): 0.134 (0.001-0.269), 0.163 (- 0.015-0.337), 0.215 (- 0.006-0.436), P < 0.10]. Conclusions:Our findings reveal a negative correlation between age and BMD, and a positive correlation between BMI and BMD in adult males with low-to-moderate fluoride exposure in Henan Province. In addition, low-to-moderate fluoride exposure is more likely to damage the BMD of smokers.
2.Comprehensive genetic analysis in first or second trimester pregnancy loss using chromosomal microarray with single nucleotide polymorphism probes
Lifen ZHU ; Huimin ZHANG ; Qiting DU ; Xiaofang SUN ; Weiqiang LIU
Chinese Journal of Medical Genetics 2022;39(6):576-580
Objective:To explore possible genetic causes associated with early pregnancy loss using chromosomal microarray analysis (CMA) with single nucleotide polymorphism (SNP) probes.Methods:A retrospective review was performed by the CMA of samples from 961 patients who spontaneously aborted in our hospital before the 20th week of pregnancy.Results:(1)The total chromosome abnormality rate in miscarriage samples was 54.44% (515/946), including single chromosome abnormality (39.53%), two chromosome abnormality (2.22%), multi-chromosome abnormality (0.42%), triploidy or hypertriploidy (4.86%), copy number variants (CNVs) in 41 cases (4.33%), regions of homozygosity (ROH, 0.74%), mosaic (2.22%) and chimera (0.11%) . (2) CNV analysis of 41 cases showed that 85.36% were pathogenic and likely pathogenic, 12.20% were classified as clinical significance unknown and 2.44% were interpreted as likely benign; (3) Among the cases of ROH, 2 cases shown whole-genome homozygosity and 1 case had completely homozygous at chromosome 21. The homozygous regions in 2 cases were located at the end of the short arm of chromosome 16, suggesting the mechanism of ROH in such cases could be the result of isodisomy.Conclusion:Chromosome abnormality is an important genetic factor causing pregnancy loss. The application of CMA with SNP probes can indeed improve the detection rate of chromosome abnormalities and evaluate the risk of reproductive fertility in patients with pregnancy loss.