Identification of risk genes in Chinese nonobstructive azoospermia patients based on whole-exome sequencing / 亚洲男科学杂志(英文版)

Nonobstructive azoospermia (NOA) is a severe condition in infertile men, and increasing numbers of causative genes have been identified during the last few decades. Although certain causative genes can explain the presence of NOA in some patients, a proportion of NOA patients remain to be addressed. This study aimed to investigate potential high-risk genes associated with spermatogenesis in idiopathic NOA patients by whole-exome sequencing. Whole-exome sequencing was performed in 46 male patients diagnosed with NOA. First, screening was performed for 119 genes known to be related to male infertility. Next, further screening was performed to determine potential high-risk causative genes for NOA by comparisons with 68 healthy male controls. Finally, risk genes with high/specific expression in the testes were selected and their expression fluctuations during spermatogenesis were graphed. The frequency of cystic fibrosis transmembrane conductance regulator (CFTR) gene pathogenic variant carriers was higher in the NOA patients compared with the healthy controls. Potential risk genes that may be causes of NOA were identified, including seven genes that were highly/specifically expressed in the testes. Four risk genes previously reported to be involved in spermatogenesis (MutS homolog 5 [MSH5], cilia- and flagella-associated protein 54 [CFAP54], MAP7 domain containing 3 [MAP7D3], and coiled-coil domain containing 33 [CCDC33]) and three novel risk genes (coiled-coil domain containing 168 [CCDC168], chromosome 16 open reading frame 96 [C16orf96], and serine protease 48 [PRSS48]) were identified to be highly or specifically expressed in the testes and significantly different in the 46 NOA patients compared with 68 healthy controls. This study on clinical NOA patients provides further evidence for the four previously reported risk genes. The present findings pave the way for further functional investigations and provide candidate risk genes for genetic diagnosis of NOA.

Cardiovascular drugs and analysis of potential risk factors associated with mortality in severe coronavirus disease 2019 patients

SUMMARY OBJECTIVES: Cardiovascular diseases are also considered to increase the risk of death in COVID-19 patients. However, real-world data concerning the risk factors for death in patients with severe COVID-19 still remain vague. This study aimed to identify the potential risk factors associated with mortality in severe COVID-19 patients. METHODS: All consecutive patients admitted to the intensive care unit (ICU) of our institute for COVID-19 for severe COVID-19 pneumonia from April 1, 2020 to July 20, 2020 were included in the analysis. Patient characteristics, including complete medical history and comorbid diseases, blood test results during admission and on day 7, and clinical characteristics were compared between survivors and nonsurvivors. RESULTS: There was no significant difference between survivors and nonsurvivors regarding age, gender, and preexisting cardiovascular diseases. Moreover, the rate of the medications including angiotensin-converting enzyme (ACE) inhibitor and angiotensin receptor blockers did not differ between survivors and nonsurvivors. The peak C-reactive protein (CRP), procalcitonin, fibrinogen, and d-dimer levels and the rate for chronic renal failure were significantly higher in nonsurvivors compared with survivors. Intubated patients had a higher risk of death than the others had. CONCLUSIONS: This study failed to demonstrate a significant difference in preexisting cardiovascular diseases and cardiovascular medications between survivors and nonsurvivors who were admitted to ICU for severe COVID-19. Our findings indicate that the presence of chronic renal failure, a high peak ferritin concentration, and the need for invasive mechanical ventilation appear predictive for mortality. We propose that these risk factors should be taken into account in defining the risk status of severe COVID-19 patients admitted to the ICU.

Trace heavy metals and harmful elements in roots and rhizomes of herbs: Screening level analysis and health risk assessment / 中草药·英文版

Objective: Heavy metal and harmful element contamination are frequently reported in Chinese herbal medicines (CHMs), and roots and rhizomes parts showed a higher content than other parts. To investigate the residue level and assess the potential human health risk of heavy metals and harmful elements in roots and rhizomes, 720 batches of the sample representing 20 species of herbs from different sources were collected. Methods: The content of Pb, Cd, As, Hg, and Cu in the digests was determined using ICP-MS. The chronic hazard index estimate based on non-cancer hazard quotient (HQ) was applied for potential health risk assessment of Pb, Cd, As, Hg, and Cu via consumption of CHMs. Results: Compared with the Chinese limit standard (Chinese Pharmacopoeia Commission, 2020 edition) of Pb, Cd, As, Hg, and Cu in Ginseng Radix et Rhizoma, the exceedance percentage of Pb in total samples was 14.1%, which were generally far higher than Cd, As, Hg, and Cu. Health risk assessment results based on hazard quotient calculating showed that total HQ of Cu, Pb, As, Cd, and Hg in Pulsatillae Radix and Clematidis Radix et Rhizoma exceeded 1, with the value of 1.543 and 1.235. Besides, Arsenic had the highest HQ value (0.957) in Pulsatillae Radix. Conclusion: Consuming raw materials of Pulsatillae Radix and Clematidis Radix et Rhizoma may pose a potential risk and Arsenic residues in Pulsatillae Radix deserved special attention.

Analysis of monitoring results of chronic diseases of island residents who have drunken desalinated seawater for a long time / 上海预防医学

Objective To study the current situation of chronic diseases among island residents who have drunken desalinated water for a long time， and to reveal the relationship between drinking desalinated water and water from other sources and the prevalence of chronic diseases among the population. Methods According to the different drinking water sources of island residents， the research subjects were divided into seawater desalination group （residents of Gouqi Township， Shengsi County）， mixed water source group （residents of Shengshan Town， Shengsi County） and freshwater group （residents of Huanglong Township， Shengsi County）. Through the chronic disease network report and resident health file system， the current situation of chronic diseases in different water groups was investigated and analyzed. Results There were significant differences in the prevalence of malignant tumor among drinking water sources （ χ 2=23.867， P <0.001）， with the prevalence of mixed water group >desalination group >fresh water group. There were significant differences in the prevalence of coronary heart disease （ χ 2=194.883， P <0.001）， with the prevalence of mixed water group >desalination group >fresh water group. There were significant differences in the prevalence of stroke （ χ 2=35.637， P <0.001）， with the prevalence of fresh water group > mixed water group > desalination group. There was no significant difference in the prevalence of diabetes mellitus （ χ 2=2.808， P =0.246）， but there was significant difference in the age of onset of diabetes mellitus （ χ 2=7.368， P =0.001）， and significant difference in the prevalence of diabetes mellitus in the age group ≥55 （ χ 2=17.144， P <0.001）， and the onset age and prevalence were all in the order of fresh water group > desalination group > mixed water source group. There was no significant difference in the prevalence of hypertension （ χ 2=3.962， P =0.138）， but there was significant difference in the prevalence of hypertension in the age group ≥55 （ χ 2=20.734， P <0.001）， with the prevalence of fresh water group > desalination group > mixed water source group. Conclusion Long-term consumption of desalinated water by residents is correlated with malignant tumors， coronary heart disease and stroke， and has no correlation with diabetes and hypertension.

Analysis of monitoring results of chronic diseases of island residents who have drunken desalinated seawater for a long time / 上海预防医学

Objective To study the current situation of chronic diseases among island residents who have drunken desalinated water for a long time， and to reveal the relationship between drinking desalinated water and water from other sources and the prevalence of chronic diseases among the population. Methods According to the different drinking water sources of island residents， the research subjects were divided into seawater desalination group （residents of Gouqi Township， Shengsi County）， mixed water source group （residents of Shengshan Town， Shengsi County） and freshwater group （residents of Huanglong Township， Shengsi County）. Through the chronic disease network report and resident health file system， the current situation of chronic diseases in different water groups was investigated and analyzed. Results There were significant differences in the prevalence of malignant tumor among drinking water sources （ χ 2=23.867， P <0.001）， with the prevalence of mixed water group >desalination group >fresh water group. There were significant differences in the prevalence of coronary heart disease （ χ 2=194.883， P <0.001）， with the prevalence of mixed water group >desalination group >fresh water group. There were significant differences in the prevalence of stroke （ χ 2=35.637， P <0.001）， with the prevalence of fresh water group > mixed water group > desalination group. There was no significant difference in the prevalence of diabetes mellitus （ χ 2=2.808， P =0.246）， but there was significant difference in the age of onset of diabetes mellitus （ χ 2=7.368， P =0.001）， and significant difference in the prevalence of diabetes mellitus in the age group ≥55 （ χ 2=17.144， P <0.001）， and the onset age and prevalence were all in the order of fresh water group > desalination group > mixed water source group. There was no significant difference in the prevalence of hypertension （ χ 2=3.962， P =0.138）， but there was significant difference in the prevalence of hypertension in the age group ≥55 （ χ 2=20.734， P <0.001）， with the prevalence of fresh water group > desalination group > mixed water source group. Conclusion Long-term consumption of desalinated water by residents is correlated with malignant tumors， coronary heart disease and stroke， and has no correlation with diabetes and hypertension.

Identification and risk monitoring of potential risk areas of schistosomiasis in Dongting Lake area / 中华疾病控制杂志

Objective To identify and monitor potential risk areas of schistosomiasis in Dongting Lake area. Methods With remote sensing (RS)and geographic information system(GIS) technology, potential risk areas of schistosomiasis in Dongting Lake area were extracted by using spectral characteristics and environmental factors. Based on epidemiological data and land use data, the regional epidemic index and environmental susceptibility index were fused with potential epidemic risk areas in the grid system of Dongting Lake area to form the epidemic risk surveillance map of schistosomiasis in Dongting Lake area from 2006 to 2016. Results From 2006 to 2016, the high risk areas of schistosomiasis epidemic in Dongting Lake area were concentrated in the central and Northern lakeside areas of Changde City (Annual average epidemic index R-=0.330 5, Regional average susceptibility index Y-=2.458 2), the sensitive land types were Lake area (Sensitivity coefficient β=1.236 6), the surrounding area of Datong Lake in Nanxian and Northern Yuanjiang City (R-=0.426 0, Y-=0.836 8), paddy field area (β=0.202 1) and other construction land (β=0.308 0). The extremely high risk areas were concentrated in some lake-facing areas in Jinshi (R-=0.449 1, Y-=3.917 0) and the sensitive land type is woodland(β=1.234 5). The risk of river basin from high to low was respectively the Lishui River, the Yuanjiang River, the Zijiang River and the Xiangjiang River. Conclusions The high-risk and extremely high-risk areas should be the focus of future epidemic control. The snail control and environmental renovation of epidemic-sensitive areas such as sparse woodland, grassland with high coverage, reservoir pits and ponds should be done well in Dongting Lake area.

Hidden risks of medical equipment during clinical operation and their effects on medical treatment / 医疗卫生装备

Object To analyze the potential risks and possible influencing factors of medical equipment during clinical operation, and to propose feasible measures to weaken the influences to medical treatment.Methods The hidden risks were analyzed from the aspects of equipment, environment, personnel and etc, and adverse events supervision mechanism was established to eliminate the risks.Results The hidden risks had to be supervised during daily clinical operation according to ISO 14971 standard, and the staffs such as clinical technician, electrical network system maintenance engineer and medical equipment supplier were suggested to be gifted with the responsibilities to recognize, find and treat hidden risks.Conclusion The supervision of hidden risks of medical equipment contributes to enhancing its safety and efficiency during clinical opera-tion.

Clinical value of endoscopic treatment for small gastric stromal tumor / 中华消化内镜杂志

Objective To re-evaluate the potential risk of small gastric stromal tumor ( diameter less than 2 cm), and to assess the safety and efficacy of endoscopic resection and further treatment strategy for small gastric stromal tumor. Methods Data of 584 patients undergoing endoscopic submucosal dissection ( ESD) and diagnosed as gastric submucosal tumor ( SMT) in Tianjin Medical University General Hospital from September 2008 to December 2015 were retrospectively analyzed. The clinical and pathological features and potential risk of small gastric stromal tumor were analyzed. The therapeutic outcomes, complications and follow-up results of ESD were summarized, and the follow-up results of patients undergoing ESD were compared with 45 patients who were suspected as small gastric stromal tumor and followed-up regularly by endoscopic ultrasonography ( EUS) in the same period. Results Among 584 cases of gastric SMT, stromal tumor ( 239 cases, 40. 9％) was the most common type, of which small gastric stromal tumor was found in 203 cases (84. 9％, 203/239). The mitotic index of all cases was no more than 5/50 high power field. However, adverse factors under EUS, mainly including strong echo and heterogeneity, were reported in 94 (46. 3％) out of 203 cases and were confirmed to be related to tumor size (P=0. 000). ESD was successfully performed in 203 patients with small gastric stromal tumor, and no serious complication or perioperative death occurred. Symptoms of 81. 4％ ( 144/177 ) patients were improved after ESD, and no stromal tumor recurrence or metastasis was observed during a follow-up of 12-84 months. Of the 45 patients followed-up regularly by EUS, 38 (84. 4％) patients had gastrointestinal symptoms and 84. 2％ (32/38) were not relieved during follow-up, and 12 (26. 7％) had a heavier psychological burden, seriously affecting the quality of life. Conclusion The incidence of adverse factors under EUS is high in patients with small gastric stromal tumor, and increased with tumor size. ESD is safe and effective for small gastric stromal tumor, which contributes to the diagnosis, further improves therapeutic effects and reduces psychological pressure.

Analysis of risk factors of initial poor graft function after living donor liver transplantation / 器官移植

Objective To identify the risk factors of the incidence rate of initial poor graft function (IPGF)in recipients after living donor liver transplantation. Methods Clinical data of 309 patients undergoing living donor liver transplantation were retrospectively analyzed. Candidate risk factors:(1 )donor factors included age,gender and body mass index (BMI);(2)recipient factors included age,gender,BMI and preoperative Child-Pugh classification,model for end-stage liver disease (MELD)grading,preoperative renal insufficiency,serum total bilirubin elevation,hyponatremia and hypopotassaemia;(3)graft factors included graft cold ischemia time,graft recipient weight ratio (GRWR);(4)recipient surgery factors included total operation time,blood loss volume,blood transfusion volume,platelet transfusion and anhepatic phase≥1 00 min. Single factor analysis was performed to identify the potential risk factors of IPGF. Logistic regression analysis was conducted to explore independent risk factors. Results and Conclusions Child-Pugh C of preoperative recipient liver function,MELD score≥20,serum total bilirubin elevation(>68. 4μmol/L),hyponatremia(<1 35 mmol/L), hypopotassaemia (<3. 5 mmol/L)and anhepatic phase≥1 00 min were potential risk factors of IPGF (all P<0. 05 ). Child-Pugh C of preoperative recipient liver function was an independent risk factor of the incidence rate of IPGF following living donor liver transplantation (P=0. 01 9).

A Cross-sectional Study on the Semen Quality and Potential Risk Factors in Males Attending Infertility Clinic in South Zhejiang / 预防医学

Objective: To explore the semen quality and potential risk factors of males from the infertility clinic in south area of Zhejiang.Methods A cross-sectional study was conducted to evaluate the semen quality and risk factors in 3 01 7 males attending infertility clinic in south Zhejiang.Subjects were grouped by semen quality.The generalized linear models were used to analyze the data.Results Medians of semen parameters were 2.5 ml for volume,76 ×1 06 per ml for semen concentration,1 60 ×1 06 for total sperm count,50.0%for sperm progressive motility,62.0%for total motility,and 6.9%for normal morphology.Only 32.9% of semen samples had normal semen parameters according to WHO criteria. Abstinence duration was significantly positive associated with semen volume,concentration,and total sperm count (P<0.01 ).Single factor analysis showed that smoking,contacts of environmental pollutants,and obesity had slight detrimental effects on sperm quality.However,there were no significant differences by multiple factor analysis (P >0.05 ). Conclusion A sizable proportion of semen quality from males attending infertility clinic in south Zhejiang are low according to WHO criteria.The difference of area,life styles and environmental factors may cause the change of semen quality and that need to be further studied.

The prevalence of genital arousal disorder during sexual activity and potential risk factors that may impair genital arousal among Malaysian women

Objective: To investigate the prevalence of genital arousal disorder and the potential risk factors that may impair genital arousal among women at a primary care setting in Malaysia. Methods: A validated questionnaire for sexual function was used to assess genital arousal function. A total of 230 married women aged 18–70 years old participated in this study. Their sociodemographic and marital profiles were compared between those who had genital arousal disorder and those who did not. The risk factors were examined. Results: The prevalence of genital arousal disorder in the primary care population was 50.4% (116/230). Women with genital arousal disorder were found to be significantly higher in groups of more than 45 years old (p55) (p =.001), those having 4 children or more (p=.028), those having less sexual intercourse (less than 1–2 times a week) (p=.001), and those at post-menopausal state (p=.002). There was no significant difference between these two groups in term of salary (p=.29), suffering from medical problems (p=.32), dysmenorrhea (p=.95), menarche (p=.5) and hormonal replacement therapy (p=.6). Conclusion: Women with infrequent sexual intercourse are less likely to be sexually aroused (OR=0.29, 95% CI: 0.11-0.74).

Potential Risks for Transmission of Schistosomiasis Caused by Mobile Population in Shanghai / 中国寄生虫学与寄生虫病杂志

Objective To understand the potential risk for schistosomiasis transmission caused by introduction of infection source from mobile population in Shanghai. Methods Field investigation was conducted in the suburb of Shanghai City by screening the mobile population living in Shanghai for more than 1 month and over 1 years old in a procedure of interviewing, serum indirect hemagglutination (IHA) test, and then fecal examination to detect the eggs with nylon sedimentation approach for those IHA positives. Results Among 2 931 mobile people investigated, 1 575 were male (53.74%) and 1 356 were female(46.26%); 138 out of 2 931 were positive in IHA test (4.71%). 1 938 (66.12%) out of 2 931 came from Schistosoma japonicum-endemic provinces and its positive rate in mobile population (5.99%) was significantly higher than those from the transmission-interrupted provinces (2.6%) (?2=10.28, P