Objective To diagnose a rare variant Hb Shaare Zedek in a Chinese family,and describe its clinical feature.Methods Blood samples of seven members of three generation were collected.Standard blood routine analysis,hemoglobin electrophoresis and blood gas analysis were used for phenotype analysis.Gap-PCR and reverse dot blot analysis were used to detect common thalassemia mutations.DNA sequence analysis of the human α and β globin genes were used to identify the mutation site of these samples.Results The result of blood routine analysis was normal in the proband,but a abnormal hemoglobin band (22.4％,capillary assay) was found by hemoglobin electrophoresis.In the blood gas analysis,the partial pressure of oxygen and blood oxygen saturation were 72.0 mm Hg ( 1 mm Hg =0.133 kPa) and 93.0％ in the proband.The heterozygous mutations in αl globin gene at codon 56 ( AAG ＞ GAG)which leaded Glu substitution to Lys were identified in the proband.Other family members who carried the same mutation showed similar phenotype,with abnormal hemoglobin band ( 22.4％ - 23.9％,capillary assay),low partial pressure of oxygen (59.0 - 72.0 mm Hg) and blood oxygen saturation (91.0％ -93.0％).Conclusions The heterozygote of Hb Shaare Zedek leads to slight symptoms with abnormal hemoglobin band,decreased partial pressure of oxygen and blood oxygen saturation.Discovery of this mutation enriches the abnormal hemoglobin spetrum of Chinese people,and it is useful for the clinical diagnosis and genetic counseling of hemoglobinopathies.

Objective:To discuss the treatment options for patients with azoospermia factor (AZF)c microdeletion on Y chromosome.Methods:One hundred and eighty three patients,who were diagnosed as AZFc microdeletion on Y chromosome in Peking University Third Hospital,were recruited in our stu-dy.In order to get better treatment option for this kind of patients,we retrospectively analyzed their clinic data including the treatment process and pregnancy outcome and found out the characteristics of their se-men.Results:Among the 183 patients,sperms can be found in ejaculated semen in 105 patients (57.4%,105 /183).One hundred and three patients (98.1%,103 /105)were diagnosed as severe or extremely severe oligospermia.Regular medication was given to 98 patients,6 patients (6.1%,6 /98) of which got natural pregnancy.The other 99 patients who have sperms in their semen received intracyto-plasmic sperm injection (ICSI),68 patients (68.7%,68 /99)of which got pregnancy.Seventy eight patients were diagnosed as azoospermia among all the 183 patients.Forty nine patients received testicular sperm aspiration (TESA),and 21 patients choose to receive micro-TESE directly.Among the 49 patients with TESA,sperms were retrieved in 17 patients (34.7%,17 /49),and sperms were not retrieved in 32 patients (65.3%,32 /49),of which 12 patients (37.5%,12 /32)gave up treatment and 20 patients (62.5%,20 /32)choose micro-TESE.Among the 41 patients who choose to receive micro-TESE,ope-ration has been done on 19 patients,of which 11 patients (57.9%,11 /19)got sperms.Among the 11 patients,TESA has been done on 6 patients before micro-TESE,of which 4 patients (66.6%,4 /6)got sperms.ICSI has already been done on 7 azoospermia AZFc microdeletion patients who underwent micro-TESE,of which 4 patients (57.1%,4 /7)get pregnancy.Conclusion:AZFc microdeletion patients who had sperms were always diagnosed as severe or extremely severe oligospermia.ICSI was their first choice instead of drug therapy.For AZFc microdeletion patients who were diagnosed as azoospermia, TESA was one of their choices,however,the success rate is not high.Micro-TESE is still possible to get sperms even after the failure of TESA.Therefore,we may choose micro-TESE instead of TESA in some azoospermia patients in order to reduce surgical trauma on patients.

OBJECTIVE: To screen for MYOC gene variants among sporadic patients with primary open angle glaucoma (POAG). METHODS: For 398 patients with POAG, Sanger sequencing was applied to detect potential variants of the MYOC gene. RESULTS: Eight patients (2.0%) were found to harbor variations of the MYOC gene. These included five types of variants, among which c.667C>T (p.Pro223Ser) and c.1138G>T (p.Asp380Tyr) were novel. c.382C>T (p.Arg128Trp), c.1109C>T(p.Pro370Leu) and c.1130C>A (p.Thr377Lys) were previously associated with POAG. Alignment of amino acid sequences of MYOC proteins of various species revealed that the two novel variants have occurred at highly conserved positions. c.1138G>T was predicted to be possible pathogenic by Bioinformatic analysis. CONCLUSION Two novel variants of the MYOC gene were detected among sporadic POAG patients, which enriched its variant spectrum.
Cytoskeletal Proteins ; genetics ; Eye Proteins ; genetics ; Glaucoma, Open-Angle ; genetics ; Glycoproteins ; genetics ; Humans ; Mutation

Objective:To investigate the value of real-time shear wave elastography (SWE) in the diagnosis of acute testicular torsion.Methods:A total of 30 rabbits were randomly divided into 3 groups including control group (Group S), complete torsion group (Group C) and incomplete torsion group (Group U), and corresponding animal models were built. Rabbits in each group were examined by gray scale and color Doppler ultrasound, SWE and contrast-enhanced ultrasound(CEUS) before and after operation. Mean values of elasticity modulus (Emean) of testicular capsule area, parenehyma testis, spermatic cord torsion section, torsion lower section and contrast-enhanced ultrasound parameters were recorded and then pathological examinations were performed.Results:There was no significant difference for Emean values of each group in all parts before operation( P>0.05). There was no significant difference for Emean value of S group at each period after operation( P>0.05). Emean value of postoperative testicular capsule area in U group increased obviously and rapidly compared with C group, yellow or red "hard ring signs" appeared within four to six hours after operation, there was significant difference of Emean value difference at various periods after operation in group U and C, and at 1 h, 1.5 h, 2 h, 2.5 h, 3 h and 3.5 h postoperatively between group U and C( P<0.05). Postoperative Emean value of parenchyma testis in group C and U increased about 5 kPa, expression of SWE was consistent blue. Postoperative Emean value of spermatic cord torsion section in group C increased more obviously compared with U group, a large patch of red signals appeared within five to six hours after operation, there was significant difference of Emean value at various periods after operation in group C and U, and at each period except instant, 2 h, and 3 h postoperatively between group C and U( P<0.05). Postoperative Emean value in spermatic cord torsion lower section in group U and C increased slowly ( P<0.05), expression of SWE changed from blue to blue green and green from original blue. CEUS showed blood pefusion in testis was "in and out slowly " in group U, pathological feature showed the testicular spermatogenic cells were in disorder with interstitial edema, distinct expansion of microvascular lumen, hyperemia and congestion and lots of erythrocyte leakage. CEUS showed postoperative contrast agent was not filling in testicular in group C, pathological feature showed the testicular spermatogenic cells were in disorder with interstitial edema, slight expansion of microvascular lumen, congestion and part erythrocyte leakage. Conclusions:The image changes of SWE after acute testicular torsion are related with the degree and time of torsion, the changes of testicular capsule area and spermatic cord torsion section are most significant. The use of SWE helps to get accurate hardness information of focus with effective clinical value for the diagnosis testicular torsion.

Objective To analyze the factors which may affect postoperative patency of microsurgical vasoepididymostomy (VE).Methods Ninety-four patients underwent VEs from September 2014 to June 2016 in the Department of Urology,Peking University Third Hospital,with average age of (30.7 ± 4.8) years,and body mass index (BMI) of (25.1 ± 3.0) kg/m2.Semen analyses were performed 1 month,3 months and 5 to 6 months after the operation.The following semen analyses were performed every 3-6 months thereafter.Patency was defined by finding sperms in twice or more analyses during the followup until August 2017.Patients were followed up by face-to-face or telephone interview.Seven factors (age,BMI,bilateral or unilateral anastomosis,anastomosis sites,the adjustment of anastomosis sites,motility and quantity of sperms found in epididymal fluid) were analyzed by Chi-square analysis and multifactor logistic regression analysis.Results Eighty-two patients were followed up (87.2％,82/94) while 12 patients were lost of follow-up.The mean follow-up time was 19 months.Sperms were found in the ejaculate in 59 patients postoperatively.The overall patency rate was 72.0％ (59/82),and natural paternity rate was 32.8％ (19/58).Patients ≤28 years old and those ＞28 years old had patency rates of 89.3％ (25/28) and 63.0％ (34/54,P =0.012),respectively.Patients with BMI ＜26.0 kg/m2 and BMI≥26.0 kg/m2 had patency rates of 80.4％ (41/51) and 58.1％ (18/31,P =0.029),respectively.Patency rate of bilateral surgery was 72.1％ (44/61) and of unilateral surgery was 71.4％ (44/62,P =0.727).Patency rate of caput anastomosis achieved 75.0％ (15/20) and of corpus/caudal anastomosis was 71.0％ (44/62,P =0.727).Patency rates of patients with and without adjustment of anastomosis sites were 77.8％ (7/9) and 71.2％ (52/73,P =0.680),respectively.Patency rates of a lot,a few,motile and seldom-motile sperms in epididymal fluid were 74.3％ (55/74) vs.50.0％ (4/8,P =0.146) and 70.0％ (28/40) vs.73.8％ (31/42,P =0.701),respectively.Multifactor logistic regression analysis showed that age was well associated with patency rate (OR=4.705,95％CI 1.181-18.742,P=0.028).Conclusions Age ≤28 years is an independent factor leading to higher patency rates.Patients with lower BMIs and younger could have higher patency rates.Factors of anastomosis sides,anastomosis sites,the adjustment of anastomosis sites,motility and quantity of sperms found in epididymal fluid showed no statistical difference in patency rates.

Objective:To evaluate the short-term influence of bilateral subthalamic deep brain stimulation (STN-DBS) in anxiety symptoms and quality of life in patients with Parkinson's disease (PD).Methods:Thirty-nine PD patients underwent bilateral STN-DBS in our hospital from August 2017 to August 2018 were chosen in our study. Beck Anxiety Inventory (BAI) and Beck Depression Inventory (BDI) scales were performed in these patients before and one month after surgery, and at the last follow-up, respectively. Parkinson's Disease Questionnaire-8 (PDQ-8) was performed before surgery and at the last follow-up. Statistical methods were used to analyze the differences of the above scores at different time points, and correlations between each two improvement degrees of above scores. The participants were subsequently divided into four groups based on preoperative BAI scores: no anxiety group ( n=18), mild anxiety group ( n=10), moderate anxiety group ( n=8), and severe anxiety group ( n=3); the above scales were performed. Results:(1) The BAI scores of 39 patients one month after surgery and at the last follow-up (14 [8, 20] and 9 [3, 14]) were significantly lower than those before surgery (16 [9, 27]), and the BDI scores (8[6, 16]) and PDQ-8 scores (3 [2, 6]) at the last follow-up were significantly lower than those before surgery (15 [8, 21] and 9 [6, 13], P<0.05). (2) Correlation analysis revealed that the improvement degree of BAI scores was positively correlated with that of BDI scores ( r s=0.722, P=0.000), and negatively correlated with preoperative baseline scores of BDI and PDQ-8, respectively ( r s=-0.714, P=0.000; r s=-0.378, P=0.018). (3) The BAI scores in the mild and moderate anxiety groups at the last follow-up were significantly lower as compared with the preoperative baseline BAI scores ( P<0.05). The improvement degree of BAI scores in mild, moderate, and severe anxiety groups was significantly higher than that in the no anxiety group ( P<0.05). Conclusion:The bilateral STN-DBS has considerable benefit effect on anxiety symptoms and health-related quality of life in PD patients during short-term follow-up, suggesting an involvement of STN in the pathogenesis of anxiety in PD.

OBJECTIVETo investigate the digit ratio of men who have sex with men (MSM), and the relationship between digit ratio and the partner types of MSM.

METHODSParticipants were required from Yunnan Rainbow Sky, a community organization that specialized in HIV testing, intervention and counseling services for MSM between December 2014 and April 2015. Inclusion criteria of MSM as the following: more than 18 years old; men who have had sex with men; HIV test was negative. Exclusion criteria were as this: those who couldn't attend the research due to disability. Eventually, there were 115 MSM participated in the research. According to the nationality, we adopted 1:1 matched case-control study, and we selected 115 men as control group. According to the partner number of MSM, the MSM were divided into two groups. One group was fixed partner and another was multi-partner. We used a questionnaire to collect the demographic characteristics, knowledge about HIV/AIDS, sexual behaviors during nearly 6 months, sexual orientation, the places where looked for sex partners, sex roles, drug use, preventive services etc. Then, the physical measurements were used to measure the length from second to the fifth finger in MSM group and control group. The results were expressed as nD. The chi-square test was used to compare the demographic differences between MSM group and the control group, and the T-test was used to compare the digit ratio between two groups.

RESULTSAmong 115 MSM, there were 26% (30/115) MSM who had a fixed partner, and there were 74% (85/115) MSM who had multi-partner. The mean values of digit ratio of MSM presented a trend as 2D:3D < 2D:4D < 3D:4D < 2D:5D < 4D:5D < 3D:5D. The right 2D:4D and 2D:5D of MSM were 0.957 7 ± 0.048 1 and 1.229 8 ± 0.083 4, and the mean value was significasntly higher than control group (0.941 4 ± 0.038 0 and 1.204 1 ± 0.069 5, t values were 2.84, 2.54 and P values were 0.005, 0.012). The right 2D:4D of the fixed partner group and multi-partner group among MSM were 0.962 2 ± 0.051 0 and 0.956 1 ± 0.047 3, respectively, and the mean values were significantly higher than control group (t values were 2.98, 2.83; P values were 0.027, 0.015).

CONCLUSIONThe proportion of multi-partner MSM was higher, so MSM at a high risk of being HIV infected. Right 2D:4D could be used as a biomarker of the MSM in Kunming, but couldn't reflect the features of MSM whether he has a fixed partner or has several partners.

Case-Control Studies ; China ; Fingers ; anatomy & histology ; HIV Infections ; Homosexuality, Male ; Humans ; Male ; Risk-Taking ; Sexual Partners ; Surveys and Questionnaires

HIV Antibodies ; chemistry ; HIV Infections ; diagnosis ; Humans ; Pharmacies ; Pilot Projects ; Reagent Kits, Diagnostic ; Saliva ; chemistry

OBJECTIVETo analyze the characteristics of risky behaviors among different age groups of HIV positive female sex workers, and to explore the strengthening of their management.

METHODSFrom January to June 2014, 22 814 female sex workers were investigated and tested HIV in 117 sentinel surveillance sites in Yunnan Province, and 181 were confirmed to be HIV antibody positive, who accepted questionnaire surveys. According to the age, the participants were divided into the < 35 years old age group and ≥ 35 years old age group. The demographic characteristics, knowledge about HIV/AIDS and related risk behaviors characteristics of the two groups were obtained via questionnaire surveys among 181 HIV positive female sex workers, and in-depth qualitative interviews were conducted from among 12 HIV positive sex workers.

RESULTSHIV antibody positive rate was 0.8% (181), the age of the 181 subjects were (35.83 ± 9.17) years old, 76 cases (42.0%) were < 35 years old, and 105 cases (58.0%) were ≥ 35 years old. The differences of marital status, workplace class, the last work site among two groups were statistically significant (χ(2) = 20.80, 28.32, 7.83; P < 0.001, P < 0.001, P = 0.020, respectively). Among 181 HIV, the proportion of AIDS awareness was 95.6% (173); the proportion of drug use among ≥ 35 years old age group was 51.4% (54), which was higher than that in < 35 years old age group (34.2%, 26/76) (χ(2) = 5.30, P = 0.021). 96.7% (175) received condom promotion or HIV counseling and testing in the past year. The proportion of continuing to engage in sexual services over 5 years after HIV infection was 48.5% (51/105) and the proportion of receiving antiretroviral treatment was 69.5% (73/105) in ≥ 35 years old age group, which were higher than those in the < 35 age group (30.2% (23/76), 52.6% (40/76); χ(2) = 12.26, 5.36; P = 0.002, 0.021, respectively). In-depth interviews among 12 HIV positive female sex workers found that regular clients, not consistent use of condoms were the main cause of no condom use. Economic and livelihood factors are important reasons for continuing to engage in sexual services among HIV positive sex workers.

CONCLUSIONHIV positive sex workers still have high risk behaviors including continuing to engage in commercial sexual service and no condom use after knowing their HIV infection status, and the proportion of using drugs in the ≥ 35 years old group was higher than that in < 35 years old group.

Adult ; China ; Condoms ; Female ; HIV Seropositivity ; Humans ; Marital Status ; Risk Factors ; Risk-Taking ; Safe Sex ; Sex Workers ; statistics & numerical data ; Sexual Behavior ; Substance-Related Disorders ; Surveys and Questionnaires