Epididymis cell atlas in a patient with a sex development disorder and a novel NR5A1 gene mutation / 亚洲男科学杂志(英文版)

This study aims to characterize the cell atlas of the epididymis derived from a 46,XY disorders of sex development (DSD) patient with a novel heterozygous mutation of the nuclear receptor subfamily 5 group A member 1 (NR5A1) gene. Next-generation sequencing found a heterozygous c.124C>G mutation in NR5A1 that resulted in a p.Q42E missense mutation in the conserved DNA-binding domain of NR5A1. The patient demonstrated feminization of external genitalia and Tanner stage 1 breast development. The surgical procedure revealed a morphologically normal epididymis and vas deferens but a dysplastic testis. Microfluidic-based single-cell RNA sequencing (scRNA-seq) analysis found that the fibroblast cells were significantly increased (approximately 46.5%), whereas the number of main epididymal epithelial cells (approximately 9.2%), such as principal cells and basal cells, was dramatically decreased. Bioinformatics analysis of cell-cell communications and gene regulatory networks at the single-cell level inferred that epididymal epithelial cell loss and fibroblast occupation are associated with the epithelial-to-mesenchymal transition (EMT) process. The present study provides a cell atlas of the epididymis of a patient with 46,XY DSD and serves as an important resource for understanding the pathophysiology of DSD.

Associations between adverse childhood experiences and adulthood substance use among lesbians / 中华流行病学杂志

Objective: To investigate the associations between adverse childhood experiences (ACE) and substance use behaviors among lesbians to provide a scientific basis for high-risk population identification and formulation of targeted intervention measures. Methods: Lesbians who participated in routine AIDS voluntary counseling, testing services, activities, and peer recommendations were recruited from July to December 2018, with the help of LesPark in Beijing. Convenient sampling method was used. Demographic characteristics, ACE, and substance use behaviors of subjects were investigated using an online platform powered by www.wjx.cn. Subsequently, the associations between ACE and adulthood substance use behaviors were evaluated using the logistic regression model. The SPSS 22.0 was used for statistical analysis. Results: A total of 294 lesbians were recruited in the study, 81.3% (239/294) of them were lesbians, and 18.7% (55/294) were bisexuals. Besides, 55.8% (164/294) of subjects reported they had had ACE, with proportions of lesbians experiencing abuse, neglect, and family dysfunction as 33.3% (98/294), 24.5% (72/294), and 32.7% (96/294), respectively. 55.1% (162/294) of the lesbians reported they had smoked in the past 30 days, 11.2% (33/294) reported having drug-use behavior in the past three months, and 22.8% (67/294) claimed drinking alcohol weekly. Multivariate logistic regression analysis showed that lesbians with ACE were at high risks to smoke (OR=1.87, 95%CI: 1.13-3.08), drink (OR=2.13, 95%CI: 1.18-3.84), and use drugs (OR=3.33, 95%CI: 1.29-8.61) in adulthood. Moreover, lesbians with childhood family dysfunction were at higher risk of smoking cigarettes (OR=2.60, 95%CI: 1.46-4.62) and drinking alcohol (OR=2.65, 95%CI: 1.44-4.87). At the same time, those with abuse experience were at higher risk of drug use (OR=3.17, 95%CI: 1.26-7.96). Conclusions: Substance use behaviors, including cigarette smoking, drinking alcohol, and drugs use, were common among lesbians. Positive associations were found between ACE and adulthood substance use behaviors.

Application of Breathing Trainer in Pulmonary Rehabilitation of Stable Patients with Chronic Obstructive Pulmonary Disease(review) / 中国康复理论与实践

At present,the mechanism of breathing trainer is not very clear,but it mainly bases on the neuromuscular plasticity of re-spiratory muscle.The breathing trainers appeared on the market mainly included resistance load or threshold load breath-ing trainers,abdominal breathing trainers,multifunctional breathing trainers,and new breathing trainers.However,the efficacy of breathing trainer on the stable patients with chronic obstructive pulmonary disease remains uncertain, and needs further researches.

Role of transvaginal contrast-enhanced ultrasound in the early diagnosis of endometrial carcinoma / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Endometrial carcinoma is one of the most common gynecological malignancies among women. Early diagnosis and correct preoperative evaluation of myometrial invasion are necessary to improve the prognosis. This study aimed to determine whether features and time-intensity curves (TIC) of transvaginal contrast-enhanced ultrasound (CEUS) differ from those of conventional ultrasound for endometrial carcinoma, and to further explore the clinical role of transvaginal CEUS in the early diagnosis of endometrial carcinoma.</p><p><b>METHODS</b>Forty women with a normal uterus and seventy-nine patients with endometrial carcinoma were examinedby the transvaginal CEUS with SonoVue (Bracco, Imaging B.V, Switzerland). The enhancement patterns and TIC of lesions were analyzed. The results of CEUS were compared with those of conventional ultrasound and pathology.</p><p><b>RESULTS</b>In the early and late enhanced stages, the intensity of enhancement of the normal endometrium was always lower than that in the myometrium, and the boundary between normal endometrium and myometrium was clear. A total of 65.8% (52/79) of lesions presented with inhomogeneous enhancement, 34.2% (27/79) presented with homogeneous enhancement; 60.8% (48/79) presented with hyperechoic enhancement, 27.8% (22/79) presented with isoechoic enhancement, and 11.4% (9/79) presented with hypoechoic enhancement. The average arrival time, time to peak, rise time, half-wash out time of lesions were shorter than of normal endometrium (P < 0.05). The average peak intensity, relative rise in intensity, half-wash out intensity of lesions were higher than of normal endometrium (P < 0.05). There were 49 (must be and may be present) cases of endometrial carcinoma by ultrasound (US); 24 cases were consistent with pathology results, 16 cases were underestimated and 9 cases were overestimated. There were 72 (must be and may be present) cases of endometrial carcinoma by CEUS; 53 cases were consistent with pathology results, 12 cases were underestimated and 7 cases were overestimated. The qualitative diagnosis of endometrial carcinoma by CEUS was more accurate and definite than that by US (P < 0.01).</p><p><b>CONCLUSIONS</b>By evaluating contrast-enhanced patterns and analyzing TIC, we found that CEUS can increase the accuracy of ultrasound qualitative diagnosis of endometrial carcinoma. CEUS shows lesions more clearly than conventional ultrasound, which is an advantage in evaluating the encroachment of endometrial carcinoma.</p>

The clinical diagnostic value of high-frequency ultrasound in diagnosis of thyroid benign and malignant tumors / 中国地方病学杂志

Objective To detect and analyze thyroid tumor by two-dimensional sonogram and Doppler parameter, and evaluate the value of high-frequency ultrasound in diagnosing thyroid benign and malignant tumors. Methods The ultrasonic images of 104 thyroid tumor from 80 patients with typical features were collected. Thyroid tumor was classified into benign and malignant nodules, based on the shape, border, or the rear wall echo, echo attenuation loss, internal echo, and microcalcifications in two-dimensional sonogram and systolic blood peak velocity (Vmax) and resistant index (RI) in Doppler examination. The expected results of high frequency ultrasound were compared with pathological results on consistency and error rate. Results Prediction of benign tumor by high frequency ultrasound was 66, and pathology 61, consistency rate of the two was 92.4%. Prediction of malignant lesions was 38, and pathological examination 32, consistency rate of the two was 84.2%. The total coincidence rate was 89.4%(93/104) and the error rate was 11.6%( 11/104). Conclusions The typical features of thyroid tumor on high-frequency ultrasound are helpful in diagnosis of benign or malignant nodules, which is valuable in guiding clinical treatment.

Clinical application research: color doppler flow image and three dimensional color power angiography in the diagnosis of thyroid nodules / 中国地方病学杂志

Objective To evaluate the clinical value of color doppler flow image (CDFI) and three-dimension color power angiography(3D-CPA) in the diagnosis of thyroid nodules. Methods A total of 62 pathologically confirmed thyroid nodules of 30 patients were analyzed. All the patients underwent ultrasound examination and operation in the Second Affiliated Hospital of Harbin Medical University between January, 2008 and May, 2009. Both CDFI and 3D-CPA were performed before the operation. All the nodules were divided into three groups including nodular goiters, thyroid adenomas and thyroid cancers according to the pathological results. The hemodynamic features and the vascular morphology characteristics of nodules in different groups were compared. Results 3D-CPA showed that blood vessels of nodular goiters commonly distributed surrounding the mass and the inner vessels were thin and regular, thyroid adenomas were bulb-shaped and netted structure, and malignant thyroid nodules displayed distorted and irregular distributed vessels. Peak systolic velocity (PSV)of the three groups were (39.43±11.17a), (46.39±12.98) and (65.17±9.23)cm/s, respectively. Resistance index(RI) of the three groups were (0.32±0.08), (0.41±0.06) and (0.69±0.07)cm/s, respectively. Both PSV and RI in malignant thyroid nodules were higher than in nodular goiters and in thyroid adenomas and the difference were statistical significant (all P < 0.05). The blood flow grade of malignant nodules was also higher in malignant nodules than in other two groups(χ2 = 17.11, 12.79, 23.05, 15.41, P< 0.01). Conclusions CDFI and 3D-CPA could visually demonstrate the characteristic and distribution of the inner and outer blood vessels, display the vessels structures, and they are benefit the differential diagnosis of thyroid nodules.

Design and evaluation of a quantitative analysis software for myocardial contrast echocardiography / 中华医学超声杂志（电子版）

Objective To evaluate the feasibility of quantitative analysis software for myocardial contrast echocardiography (MCE) in assessment of myocardial perfusion.Methods According to coronary occlusion and reperfusion at different times,rabbits were divided into two groups:15 min occlusion / 30 min reperfusion (group Ⅰ) and 120 min occlusion / 60 min reperfusion (group Ⅱ).MCE was performed on all rabbits at baseline,occlusion and after reperfusion,and its images were analyzed by a new quantitative analysis software based on eliminating particle swarm optimization (EPSO) clustering algorithm,by which obtain myocardial perfusion parameters.Results (1) The values of calibrated contrast intensity (CI) in risk segments of Groups Ⅰ and Ⅱ were significantly lower than those at baseline during occlusion (t =5.104 and t =4.327,P＜0.01).After reperfusion,calibrated CI in risk segments significantly improved in Group Ⅰ (t =2.933,P＜0.01) while those remained unchanged in Group Ⅱ (P＞0.05).(2) The areas of red-coded region in color-coded map and myocardial infarction in triphenyl-tetrazolium chloride (TTC) were (21.4±12.3)% and (18.0±9.5)%,respectively.The correlation between color-coded image and TTC was 0.89 (P＜0.01).(3) The histogram in all risk segments was skew distribution during occlusion.After reperfusion,the histogram in Group Ⅰ was normal distribution while that was still skewed distribution in Group Ⅱ.Conclusion The MCE image analysis software based on EPSO clustering algorithm in the quantitative assessment of myocardial microperfusion and identification of myocardial perfusion abnormalities was feasible and of high value.

Quantitative evaluation of myocardial perfusion and regional systolic function by myocardial contrast stress echocardiography with computer-assisted technique in ischemic myocardium of rabbits / 中华心血管病杂志

<p><b>OBJECTIVE</b>To evaluate the feasibility and value of determining myocardial perfusion and regional systolic function by myocardial contrast stress echocardiography (MCSE) with computer-assisted technique in a rabbit model of ischemia/reperfusion injury.</p><p><b>METHODS</b>Rabbits underwent 30-(Group I, n = 15) and 120-(Group II, n = 15) minute left ventricular branch of the left circumflex coronary artery occlusion foll owed by 60-minute reperfusion, dobutamine at increasing doses (5, 10, 15 and 20 microg.kg(-1).min(-1)) was then infused after reperfusion for 15 min. Bolus myocardial contrast agent was injected and MCSE performed at baseline, at the end of coronary occlusion and reperfusion, at the end of each dobutamine infusion. Images were analyzed by computer-assisted technique and myocardial calibrated contrast intensity (CI) of each segment was measured and a color-coded map was then obtained automatically (yellow: from 0 to -20 pix, blue:from -21 to -40 pix, green: from -41 to -70 pix, red: < -70 pix). The area at risk and infarct area obtained by red-coded map were compared with ex vivo results determined by fluorescent microsphere and triphenyl-tetrazolium chloride (TTC) staining. Percentage wall thickening (WT) of each risk segment at each stage were also measured.</p><p><b>RESULTS</b>(1) During occlusion, WT in the areas at risk decreased to zero or negative and the calibrated CI values were significantly lower than those at baseline. Area at risk obtained by red-coded map correlated well with that obtained by fluorescent staining (r = 0.91, P < 0.01). (2) After reperfusion and 5 microg.kg(-1).min(-1) dobutamine administration, WT and calibrated CI in all rabbits remained depressed. Calibrated CI at -70 pix was an optimal cutoff point to identify infarcted segments (sensitivity 95%, specificity 87%). The correlation between the infarct size by red-coded image and TTC was 0.89 (P < 0.01). (3) Calibrated CI and WT significantly improved in Group I rabbits while these parameters remained unchanged in Group II rabbits after increasing doses of dobutamine post ischemia.</p><p><b>CONCLUSIONS</b>Myocardial contrast stress echocardiography in combination with computer-assisted analysis technique are valuable techniques to quantitatively assess myocardial perfusion and regional systolic function and exactly identify stunned myocardium and infarcted myocardium.</p>