A new / 亚洲男科学杂志(英文版)

There are many unknown genetic factors that lead to infertility in nonobstructive azoospermia men. Here, we performed whole-exome sequencing in blood samples obtained from 40 azoospermia patients with meiotic arrest and found a novel c.151_154del (p.D51fs) frame-shift mutation in exon 3 of the testis expressed 11 (TEX11) gene in one patient. Sanger sequencing analysis of the patient and 288 fertile men was performed to validate the mutation. Immunohistochemical analysis showed TEX11 expression in late-pachytene spermatocytes and in round spermatids in fertile human testes. In contrast, testes of the patient with TEX11 mutation underwent meiotic arrest and lacked TEX11 expression. Western blotting of human embryonic kidney (HEK293) cells transfected with a vector for the p.D51fs TEX11 variant detected no TEX11 expression. In conclusion, we identified a novel frame-shift mutation in the TEX11 gene in an azoospermia patient, emphasizing that this gene should be included in genetic screening panels for the clinical evaluation of azoospermia patients.

Mutational analysis of the / 亚洲男科学杂志(英文版)

As a crucial transcription factor for spermatogenesis, GATA-binding protein 4 (GATA4) plays important roles in the functioning of Sertoli and Leydig cells. Conditional knockout of GATA4 in mice results in age-dependent testicular atrophy and loss of fertility. However, whether GATA4 is associated with human azoospermia has not been reported. Herein, we analyzed the GATA4 gene by direct sequencing of samples obtained from 184 Chinese men with idiopathic nonobstructive azoospermia (NOA). We identified a missense mutation (c.191G>A, p.G64E), nine single-nucleotide polymorphisms (SNPs), and one rare variant (c.

Outcomes of Preimplantation Genetic Diagnosis Cycles by Fluorescent Hybridization of Infertile Males with Nonmosaic 47,XYY Syndrome / 中华医学杂志(英文版)

Background@#The 47,XYY syndrome could result in fertility problems. However, seldom studies reported comprehensive researches on the embryonic development and pregnancy outcomes of these patients. This study aimed to evaluate the clinical outcomes of nonmosaic 47,XYY patients performed with fluorescent in situ hybridization (FISH) and preimplantation genetic diagnosis (PGD) treatment.@*Methods@#This was a retrospective study. Between January 2012 and May 2017, 51 infertile males with nonmosaic 47,XYY syndrome underwent FISH-PGD were included in the study. According to sex chromosomal FISH results, embryos were classified as normal signal, no nuclei fixed, no signal in fixed nuclei, suspensive signal, and abnormal signal groups, respectively. The incidence of each group, the fixation rate, and hybridization rate were calculated. Embryonic development and pregnancy outcomes were also analyzed. The measurement data were analyzed with Student's t-test. The comparison of categorical data was analyzed with the Chi-square test and Fisher's exact test when expected cell count was 0.05), and were significantly lower than the normal signal group (66.4%, P < 0.001). The clinical pregnancy rates of fresh and frozen embryos transferred cycles were 70.6% and 85.7%, respectively.@*Conclusions@#Among embryos with a clear diagnosis of sex chromosome, about one-fifth showed abnormal signals. Embryos with two sex chromosomal signals are more likely to develop into good-quality ones. The application of the PGD by FISH may help to improve the clinical outcome s.

Total laparoscopic sigmoid and rectal surgery combined with transanal endoscopic microsurgery / 中华胃肠外科杂志

<p><b>OBJECTIVE</b>To investigate the feasibility and short-term outcomes of total laparoscopic sigmoid and rectal surgery combined with transanal endoscopic microsurgery(TEM).</p><p><b>METHODS</b>The clinical data of 26 patients with colorectal carcinoma treated by total laparoscopic surgery with TEM between May 2010 and May 2011 in the Shanghai Ruijin Hospital were retrospectively analyzed.</p><p><b>RESULTS</b>All the 26 operations were successfully accomplished laparoscopically. There was no conversion to open procedure. No diverting ileostomy was made. The mean operative time was (151.6±25.9) min. The mean blood loss was (200.2±114.7) ml. The mean time to first flatus was (2.0±0.5) d. The mean tumor size was (3.0±0.7) cm and all resection margins were negative. The mean number of lymph nodes harvested was (12.9±2.2). Six patients developed postoperative anastomotic leakage, all of who had tumors in the lower rectum. There were no ureteral injury, intestinal obstruction, or pulmonary infection.</p><p><b>CONCLUSIONS</b>Total laparoscopic sigmoid and rectal surgery combined with TEM is a safe and feasible minimally invasive surgery. It is an improvement by combining laparoscopic skills with the concept of natural orifice transluminal endoscopic surgery.</p>

Analysis of 32 patients with rectal adenoma undergoing transanal endoscopic microsurgery / 中华胃肠外科杂志

<p><b>OBJECTIVE</b>To evaluate the safety and outcomes after transanal endoscopic microsurgery (TEM)for rectal adenoma.</p><p><b>METHODS</b>Data of 32 patients undergoing TEM for rectal adenoma between September 2006 and February 2010 in the Ruijin Hospital were reviewed.</p><p><b>RESULTS</b>The adenoma diameter ranged from 0.6 to 10.0(2.3±1.2) cm. The mean operative time was 70(range,20-180) min. The estimated blood loss was less than 10 ml. There were no conversions to transabdominal procedure. Twenty-two(68.8%) patients underwent suturing of the wound, of whom 14 had full-thickness resection. Two patients had perforation into peritoneal cavity during full-thickness resection, which were repaired by continuous suturing and no postoperative leak occurred. R0 resection was achieved in 31(96.9%) patients. Postoperative pathology showed 12 simple adenomas, 10 adenomas with low grade intraepithelial neoplasia, 5 adenomas with high grade intraepithelial neoplasia, and 5 T1 focal carcinomas. Complications included rectal bleeding in 1 patient, acute urinary retention in 1 patient, and pulmonary infection in 1 patient. The postoperative stay was 4.5(3-8) days. The patients were followed-up for a period of 23 months(range, 2-43 months). There were 2 tumors recurred.</p><p><b>CONCLUSION</b>TEM is a safe and effective minimally invasive surgical technique for large rectal adenomas.</p>

Use of L-carnitine before percutaneous epididymal sperm aspiration-intracytoplasmic sperm injection for obstructive azoospermia / 中华男科学杂志

<p><b>OBJECTIVE</b>To explore the use of L-carnitine before percutaneous epididymal sperm aspiration-intracytoplasmic sperm injection (PESA-ICSI) in the treatment of obstructive azoospermia.</p><p><b>METHODS</b>Seventy-nine cases of obstructive azoospermia treated in our center from Sep 2008 to Aug 2009 were divided into an L-carnitine (n = 43) and a control group (n = 36), the former given oral L-carnitine at 1 g bid for 3 months before PESA-ICSI, while the latter left untreated. Comparisons were made between the two groups in the number of retrieved oocytes and fertilized oocytes as well as the number and rate of good embryos.</p><p><b>RESULTS</b>There were no significant differences between the two groups in the number of retrieved oocytes and fertilized oocytes. But the number and rate of good embryos were significantly higher in the L-carnitine than in the control group (P < 0.05).</p><p><b>CONCLUSION</b>Three-month oral medication of L-carnitine before PESA-ICSI can raise the number and rate of good embryos in obstructive azoospermia patients and therefore benefit the therapeutic outcome.</p>

Value of ligating the middle colic artery from the root in radical surgical treatment of right hemicolon cancer / 中华胃肠外科杂志

<p><b>OBJECTIVE</b>To compare the long-term outcome of ligating the middle colic artery in radical surgical treatment of right hemicolon cancer.</p><p><b>METHODS</b>The operation safety, complications and short-term outcome between two groups of patients undergone either ligating the middle colic artery from its root (A group) or ligating the middle colic artery from its right branch (B group) in right hemicolectomy for colon cancer.</p><p><b>RESULTS</b>Between January 1981 and December 2004, 308 patients underwent radical right hemicolectomy in which 103 patients were treated by ligating the middle colic artery from its roots(Jan. 1996 to Dec. 2004, A group), and 205 patients via ligating the middle colic artery from the roots of its right branch(Jan. 1981 to Dec. 1995, B group). The complications were compared between the two groups(P>0.05). The mean follow-up time of A and B group were(50.1+/-7.2) months and(49.1+/-7.2) months respectively. Local recurrences of 1-year, 3-year and cumulative survival probability at the 60th month in group A were 1.9%, 13.6% and(78.3+/-3.4)% respectively, which were significantly better than 19.0%, 24.9% and(64.8+/-2.8)% in group B(P<0.05).</p><p><b>CONCLUSION</b>Ligating the middle colic artery from its root in right hemicolectomy can be performed safely and effectively, which is to be highly recommended in curative resection of right colon.</p>

Early apoptotic changes in human spermatozoa and their relationships with conventional semen parameters and sperm DNA fragmentation / 亚洲男科学杂志(英文版)

<p><b>AIM</b>To investigate whether early apoptotic changes in spermatozoa can be significant markers for sperm quality.</p><p><b>METHODS</b>Two early apoptotic changes in the semen of 56 men were assessed using Annexin V (AN)/propidium iodide (PI) staining for phosphatidylserine externalization and JC-1 staining for mitochondrial membrane potential (MMP). The results were compared with conventional semen parameters and DNA fragmentation identified using the TUNEL assay.</p><p><b>RESULTS</b>The different labeling patterns in the bivariate Annexin V/PI analysis identified four distinctive spermatozoa populations. The percentage of AN(-)/PI(-) spermatozoa positively correlated with conventional semen parameters and MMP, but negatively correlated with TUNEL (+) spermatozoa. As for the AN(-)/PI(+) fraction, we found an opposite result in comparison to AN(-)/PI(-) spermatozoa. The level of early apoptotic AN(+)/PI(+) spermatozoa negatively correlated with MMP and sperm motility. The level of late apoptotic AN+/PI+ spermatozoa negatively correlated with conventional semen parameters and MMP, and positively correlated with TUNEL (+) spermatozoa. MMP positively correlated with conventional semen parameters, but negatively correlated with TUNEL (+) spermatozoa.</p><p><b>CONCLUSION</b>Although early apoptotic AN+/PI(-) spermatozoa only negatively correlates with sperm motility, the differences in proportion of each subpopulation of spermatozoa (especially, the percentage of AN(-)/PI(-) spermatozoa), and decreased MMP might be significant markers for diagnosing male infertility. They possibly bring additional information to predict the outcome of in vitro fertilization.</p>

Association between serotonin 2C gene polymorphisms and attention deficit hyperactivity disorder in children with or without comorbidity of disruptive behavior disorder / 中华儿科杂志

<p><b>OBJECTIVE</b>Disruptive behavior disorder (DBD) is one of the main comorbidity of attention deficit hyperactivity disorder (ADHD). Previous studies showed significantly different serotonin function between ADHD children with and without the comorbidity of DBD. Therefore, it is needed to compare these two groups in terms of serotonin receptor gene polymorphisms, which may provide further evidence for the previous studies. The current study aimed to investigate the relationship between two serotonin receptor 2C (HTR2C) gene polymorphisms, that are C-759T and G-697C polymorphisms, and ADHD with or without concomitant DBD.</p><p><b>METHOD</b>Blood samples were taken from 237 trios with probands of ADHD with DBD comorbidity and 251 trios with probands of ADHD without comorbidity of DBD. All the subjects were from the ADHD clinic of Peking University Sixth Hospital. DNA was extracted and PCR was performed to amplify the fragments containing both C-759T and G-697C polymorphisms. AciI was used to detect different alleles of the two polymorphisms. Both allele-based and haplotype-based TDT analyses were used to test the association of the two polymorphisms of HTR2C gene and ADHD with or without comorbidity of DBD.</p><p><b>RESULTS</b>The haplotypes -759C (chi(2) = 4.25, P = 0.04), -697G(chi(2) = 3.21, P = 0.07), as well as -759C/-697G were over-transmitted (chi(2) = 4.31, P = 0.04) to the probands of ADHD without DBD. No biased transmission of any allele and haplotype were found in families with probands of ADHD with DBD.</p><p><b>CONCLUSION</b>ADHD with or without the comorbidity DBD was different at the level of HTR2C gene polymorphisms of C-759T and G-697C. HTR2C is related to ADHD without DBD, while not related to ADHD with DBD. The results suggested that the two groups may have different genetic background, at least in HTR2C.</p>

Association between dopamine beta hydroxylase gene and attention deficit hyperactivity disorder complicated with disruptive behavior disorder / 中华儿科杂志

<p><b>OBJECTIVE</b>Attention deficit hyperactivity disorder (ADHD), a common behavior disorder of childhood, is a highly heterogeneous disease frequently accompanied by various mental disorders, including disruptive behavior disorder (DBD). Studies show that children suffering from ADHD with DBD are at higher risk of antisocial personality, substance abuse, and social adaptations disorder at their adulthood. The dopamine beta hydroxylase (DbetaH) is the key enzyme to ADHD since it catalyzes the conversion of dopamine to norepinephrine, and dysfunction there of is believed to be one of the causes of the disorder. To explore the association between DBH gene and ADHD complicated with or without DBD, the authors analyzed the transmission of a novel polymorphism DBH -1021C-->T, which is found associated with plasma DbetaH activity, in ADHD nuclear families using transmission disequilibrium test (TDT).</p><p><b>METHODS</b>Consensus diagnoses were based on the DSM-IV. The samples included those from 292 Chinese Han nuclear families with ADHD probands. Genotypes of DBH -1021C-->T polymorphism were determined by PCR amplification, endonuclease digesting and electrophoresis. The transmission of DBH -1021C-->T polymorphism in ADHD nuclear families with or without DBD was analyzed by TDT.</p><p><b>RESULTS</b>The results showed that there was transmission disequilibrium between DBH-1021C-->T polymorphism and ADHD with or without DBD. In ADHD comorbid with DBD, T allele was preferentially transmitted (P < 0.05); and in ADHD without DBD, so was the C allele (P < 0.05). Among the three subtypes of ADHD, only ADHD-C subtype with DBD had an increased transmission of T allele (P < 0.05).</p><p><b>CONCLUSION</b>There is an association between DBH gene and ADHD comorbid with or without DBD, but the preferential transmission alleles are different. The low activity T allele is increased to transmit in ADHD with DBD, while the high activity C allele is preferentially transmitted in ADHD without DBD. The results support the proposition that the genetic mechanism is different between ADHD comorbid with or without DBD. We also found that only ADHD-C subtype with DBD is associated with DBH -1021C-->T polymorphism in three subtypes of ADHD, which may suggest that there is a more intense relationship between DBD and ADHD-C subtype.</p>