Numerous genes have been associated with multiple morphological abnormalities of the sperm flagella (MMAF), which cause severe asthenozoospermia and lead to male infertility, while the causes of approximately 50% of MMAF cases remain unclear. To reveal the genetic causes of MMAF in an infertile patient, whole-exome sequencing was performed to screen for pathogenic genes, and electron microscope was used to reveal the sperm flagellar ultrastructure. A novel heterozygous missense mutation in the outer dense fiber protein 2 (ODF2) gene was detected, which was inherited from the patient's mother and predicted to be potentially damaging. Transmission electron microscopy revealed that the outer dense fibers were defective in the patient's sperm tail, which was similar to that of the reported heterozygous Odf2 mutation mouse. Immunostaining of ODF2 showed severe ODF2 expression defects in the patient's sperm. Therefore, it was concluded that the heterozygous mutation in ODF2 caused MMAF in this case. To evaluate the possibility of assisted reproductive technology (ART) treatment for this patient, intracytoplasmic sperm injection (ICSI) was performed, with the help of a hypo-osmotic swelling test and laser-assisted immotile sperm selection (LAISS) for available sperm screening, and artificial oocyte activation with ionomycin was applied to improve the fertilization rate. Four ICSI cycles were performed, and live birth was achieved in the LAISS-applied cycle, suggesting that LAISS would be valuable in ART treatment for MMAF.
Abnormalities, Multiple ; Animals ; Flagella ; Heat-Shock Proteins ; Humans ; Infertility, Male ; Male ; Mice ; Mutation ; Semen ; Sperm Tail ; Spermatozoa

Objective: To investigate the effect of pesticides and herbicides on lipid metabolism. Methods: In November 2020, Based on the data of the national health and Nutrition Survey (NHANES) (2011-2014) , select the population aged 20~65 who have demographic information, pesticide use and data of four lipid metabolism indicators [total cholesterol (TC) , triglyceride (TG) , high density lipoprotein cholesterol (HDLC) and low density lipoprotein cholesterol (LDLC) ] (n=3039) . The subjects were divided into insecticide group (320 people) and non insecticide group (2719) according to the use of insecticides, and herbicide group (156 people) and non herbicide group according to the use of herbicides. Results: Among the 3039 subjects, the males and female were 1509 (49.7%) and 1530 (50.3%) respectively. The males age was (39.7±12.0) years and the females age was (40.2±12.0) years The concentration of HDLC in the NHANES (55.4±15.0) mg/dl was lower than that of (58.2±14.2) mg/dL in the non herbicide group (P<0.05) (b=-0.044, P<0.05) . The results showed that the use of herbicides was related to the decrease of HDLC and the increase of LDLC and LDLC/HDLC in female population (b=-0.050, 0.062, 0.067, all P<0.05) . Conclusion: Herbicide exposure can cause the change of lipid metabolism, and the effect on female population is more obvious.
Adult ; Cholesterol, HDL ; Cholesterol, LDL ; Female ; Humans ; Lipid Metabolism ; Male ; Middle Aged ; Nutrition Surveys ; Pesticides ; Young Adult

Work-related musculoskeletal disorders (WMSDs) refer to musculoskeletal disorders caused by work or work as the main cause, which are characterized by high prevalence and heavy burden of disease as a global problem. The classification and catalog of occupational diseases is of great significance for guiding the prevention and control of occupational diseases and safeguarding the rights and interests of workers. The types of WMSDs included in the list of occupational diseases vary greatly from country to country, and the regulations on specific pathogenic factors are also inconsistent. By sorting out and analyzing the lists and characteristics of WMSDs at home and abroad, and using the International Statistical Classification of Diseases and Related Health Problems (ICD-10) in occupational health to standardize of WMSDs in various countries, which would lay the foundation for future multi-country WMSDs occupational health registration and disease burden research, and provide a reference for China to revise the WMSDs list.
Humans ; Musculoskeletal Diseases/prevention & control* ; Occupational Diseases/prevention & control* ; Prevalence ; Risk Factors ; Surveys and Questionnaires

Objective:To investigate the value of whole-lesion histogram parameters of apparent diffusion coefficient (ADC) in evaluating and predicting the pathological complete response(PCR) to neoadjuvant chemotherapy (NAC) in different subtypes of breast cancer.Methods:This retrospective study included 117 patients with breast cancer who underwent MRI examination before NAC prior to surgery from January 2016 to December 2017 in the First Affiliated Hospital of Nanjing University. All cases were divided into Luminal B, HER2 positive ( n=21) and triple negative ( n=26) groups. The surgical pathology after chemotherapy was evaluated by Miller-Payne (M-P) system and the patients were divided into PCR group and non-PCR (nPCR) group. Firevoxel software was used to generate the whole-lesion ADC histogram. The parameters included mean (ADC mean), skewness, kurtosis, the minimum (ADC min), the maximum (ADC max), 10th percentile(ADC 10%), 50th percentile (ADC 50%) and 90th percentile (ADC 90%). The two independent samples t test or Mann-Whitney U test was used to compare the differences between PCR and nPCR groups in each subtype. The diagnostic performance of statistically different ADC parameters for predicting PCR was evaluated by receiver operating characteristic (ROC) curve. Results:Kurtosis was significantly higher in PCR group than that in nPCR group in HER2 positive subtype ( P=0.039). It achieved an area under the curve (AUC) of 0.813 with sensitivity of 100% and specificity of 68.7% at the optimal cutoff value (1.861) for differentiating PCR from nPCR cases. In triple negative subtype, ADC mean and ADC 50% were smaller in PCR group than those in nPCR group ( P=0.028,0.013). They achieved AUCs of 0.800, 0.842, respectively. When ADC mean of 1.030×10 -3 mm 2/s and ADC 50% of 0.976×10 -3 mm 2/s were used as cutoff value to differentiate PCR from nPCR, the sensitivities were 75.0%, 80.0% and the specificities were 83.3%, 83.3%, respectively. Conclusion:Kurtosis can predict post-NAC PCR in patients with HER2 positive breast cancer, while ADC 50% has a high value in predicting post NAC PCR of triple negative breast cancer patients.

Objective To validate the Union Physio-Psycho-Social Assessment Questionnaire(UPPSAQ-70)and test its validity and reliability.Methods From April,2013 to July,2018,patients were asked to finish the computer evaluation of UPPSAQ-70 and Symptom Checklist 90(SCL-90)in Peking Union Medical College Hospital(PUMCH).Confirmatory factor analysis(CFA)was conducted on the SPSS 17.0,and the number of fixed factors was 8 factors and 3 factors.Amos 23.0 was used to verify the original 8-factor model,8-factor revision model,3-factor model,3-factor revision model,and single-factor model.Each factor of SCL-90 was used as the calibration standard to calculate the correlation coefficient between factors.The retest reliability was tested by the outpatients in PUMCH in July,2018.Results Exploratory factor analysis indicated that the 8-factor revised model included:depression,anxiety and fatigue,sleep,physical discomfort,sexual function,happiness and satisfaction,hypochondria,and social anxiety.The 3 factors revised model included that:psychological,physiological and social dimension.Confirmatory factor analysis indicated that the 8-factor modified model was superior to the 3-factor model and the single-factor model: =10 410.4,=1862,RMSEA=0.07,CFI=0.753,and NFI=0.715.With SCL-90 as the standard criteria,except the low correlation coefficient between emotional scale and depression(=0.600)and anxiety(=0.520),the correlation coefficients of other symptoms were below 0.5.The chronbach's between each factor and total score of UPPSAQ-70 was between 0.823 and 0.904,and the Chronbach's coefficient of the whole scale was between 0.954 and 0.956 after each item was deleted.The retest reliability of the scale of 32 participants Chronbach's was 0.847.Each item of the scale measured between one week was significantly correlated(<0.05). Conclusion UPPSAQ-70 is a good scale for evaluating overall health status and is especially feasible in general hospitals.
Factor Analysis, Statistical ; Humans ; Psychological Tests ; standards ; Psychometrics ; Reproducibility of Results ; Surveys and Questionnaires

Objective:To design and implement a low-power and portable transcranial direct current stimulator controlled by mobile phones. Methods:The constant current stimulation circuit was realized by a field effect transistor, which could output stable and adjustable low-intensity direct current, and the impedance detection circuit and the over-current protection circuit increased the effectiveness and safety of the stimulator. The control and real-time detection of the stimulation circuit was realized through a microcontroller, and the parameters' settings of the stimulator and the display and preservation of the actual stimulus information were realized through the Android software on the smartphone. Results:The output current strength and accuracy, maximum load, as well as the timing, device connection, stimulus information collection and display all achieved the expected goals. Conclusion:The design realized the mobile control of the stimulator, with portability, low cost and low power consumption, providing a new solution for wider applications.

Adult ; Animals ; Female ; Frameshift Mutation/genetics* ; Genes, sry ; Gonadal Dysgenesis, 46,XY/genetics* ; Humans ; Menarche ; Ovary/pathology* ; Oviducts/pathology* ; Sex-Determining Region Y Protein/genetics*

Bacterial Proteins ; genetics ; metabolism ; Biofilms ; DNA-Binding Proteins ; genetics ; metabolism ; Flagella ; genetics ; metabolism ; Gene Expression Regulation, Bacterial ; Transcription Factors ; genetics ; metabolism ; Vibrio parahaemolyticus ; cytology ; genetics ; growth & development ; physiology

BACKGROUNDPrior studies have reported controversial conclusions regarding the risk of adverse cardiovascular events in patients using proton-pump inhibitors (PPIs) combined with clopidogrel therapy, causing much uncertainty in clinical practice. We sought to evaluate the safety of PPIs use among high-risk cardiovascular patients who underwent percutaneous coronary intervention (PCI) in a long-term follow-up study.

METHODSA total of 7868 consecutive patients who had undergone PCI and received dual antiplatelet therapy (DAPT) at a single center from January 2013 to December 2013 were enrolled. Adenosine diphosphate (ADP)-induced platelet aggregation inhibition was measured by modified thromboelastography (mTEG) in 5042 patients. Propensity score matching (PSM) was applied to control differing baseline factors. Cox proportional hazards regression was used to evaluate the 2-year major adverse cardiovascular and cerebrovascular events (MACCEs), as well as individual events, including all-cause death, myocardial infarction, unplanned target vessel revascularization, stent thrombosis, and stroke.

RESULTSAmong the whole cohort, 27.2% were prescribed PPIs. The ADP-induced platelet aggregation inhibition by mTEG was significantly lower in PPI users than that in non-PPI users (42.0 ± 30.9% vs. 46.4 ± 31.4%, t = 4.435, P < 0.001). Concomitant PPI use was not associated with increased MACCE through 2-year follow-up (12.7% vs. 12.5%, χ2 = 0.086, P = 0.769). Other endpoints showed no significant differences after multivariate adjustment, regardless of PSM.

CONCLUSIONIn this large cohort of real-world patients, the combination of PPIs with DAPT was not associated with increased risk of MACCE in patients who underwent PCI at up to 2 years of follow-up.

Objective: To evaluate the safety and effectiveness of the Endurant stent graft for abdominal aortic aneurysm cases with proximal neck length <10 mm. Methods: This study was a retrospective analysis. From January 2010 to May 2015, 22 consecutive abdominal aortic aneurysm patients with proximal neck length <10 mm were treated with endovascular aortic repair by Endurant stent graft in Department of Vascular Surgery, Zhongshan Hospital, Fudan University. There were 19 (86.3%) male cases, aging from 57 to 84 years. All patients underwent preoperative CT angiography and the anatomic parameters of abdominal aortic aneurysm were measured. All patients performed standard endovascular aortic repair first and if there was obvious proximal typeⅠ endoleak, the CUFF or the chimney technology were applied to observed the perioperative technical and the clinical success rate. During follow-up, the incidence of adverse events and the reintervention rate were observed. Results: These 22 cases had proximal neck length 5 to 9 mm with the average of (7.2±1.4) mm. Immediate endoleak occurred in 5 patients with 4 cases of proximal typeⅠ endoleak, 3 cases were implanted proximal CUFF, 1 case implanted CUFF and left renal artery chimney. One case died perioperatively, the clinical success rate was 95.4%, the technical success rate was 77.3%. During the follow-up of 6 to 54 months, there was 1 case with delayed proximal type-1 endoleak, during operation the patient had no endoleak, but disappeared 6 months later without further intervention. So the incidence of adverse event was 4.5% and reintervention rate was 0. Conclusion The Endurant stent graft for abdominal aortic aneurysm cases with proximal neck length < 10 mm is safe and effective.