A new mutation causes azoospermia and testicular meiotic arrest.

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.

Mutational analysis of the gene in Chinese men with nonobstructive azoospermia.

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.

Predictive significance of serum inhibin B on testicular haploid gamete retrieval outcomes in nonobstructive azoospermic men.

The purpose of this study was to determine the diagnostic accuracy of serum inhibin B (INHB) as a predictor of the retrieval outcome of testicular haploid gametes (spermatids and testicular spermatozoa) in nonobstructive azoospermic men. Serum hormone levels, testicular volume, and histological evaluation were performed in 403 Chinese nonobstructive azoospermic men. Testicular haploid gamete was successfully retrieved in 213 of 403 patients (52.

Outcomes of Preimplantation Genetic Diagnosis Cycles by Fluorescent Hybridization of Infertile Males with Nonmosaic 47,XYY Syndrome.

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.

Decline of semen quality among Chinese sperm bank donors within 7 years (2008-2014).

Semen from 5210 sperm bank donors was analyzed and trends in semen quality were evaluated at Shandong Human Sperm Bank between 2008 and 2014. After 2-7 days of abstinence, semen samples were collected. Measurements of semen volume, sperm concentration, sperm forward motility, and total sperm count were performed.

Therapeutic effects of fucoidan in 6-hydroxydopamine-lesioned rat model of Parkinson's disease: Role of NADPH oxidase-1.

Aims: To explore the effect of fucoidan treatment on oxidative stress-mediated dopaminergic neuronal damage and its potential mechanisms.

Methods: The effect of fucoidan was investigated in a 6-hydroxydopamine (6-OHDA) rat model of PD, an animal model considered appropriate for preclinical studies of PD therapy. The effects of fucoidan treatment on animal behavior and the survival ratio of dopaminergic neurons were investigated.

Tenuigenin attenuates α-synuclein-induced cytotoxicity by down-regulating polo-like kinase 3.

Background And Aims: Tenuigenin (Ten) is a Chinese herbal extract with antioxidative and antiinflammatory effects on toxin-induced cell models of Parkinson's disease (PD); however, its effects on α-synuclein toxicity-based PD models remain unknown. α-synuclein hyperphosphorylation is a key event in PD pathogenesis and potential target of therapeutic interventions. We tested whether Ten alleviates α-synuclein-induced cytotoxicity via reducing kinases that phosphorylate α-synuclein.

Laparoscopic surgery for inflammatory bowel disease--the experience in China.

Background: The incidence of inflammatory bowel disease (IBD) has risen rapidly in China over the last 15 years. Increasing numbers of people with IBD require surgery during their lifetime, but few reports of IBD in Eastern populations have been described to date. The aim of this study was to assess the short-term effects of the laparoscopic surgery for IBD in Chinese patients.

Treatment of preoperatively diagnosed colorectal adenomas by transanal endoscopic microsurgery: the experience in China.

Introduction: Colorectal adenoma is a recognized precancerous lesion that has the potential for malignant transformation. Surgical resection of colorectal adenomas is required for exact diagnosis and treatment. The aim of this study is to assess the safety and therapeutic effect of transanal endoscopic microsurgery for preoperatively diagnosed colorectal adenomas.

Ileal pouch anal anastomosis with modified double-stapled mucosectomy--the experience in China.

Aim: To investigate the feasibility and long-term functional outcome of ileal pouch-anal anastomosis with modified double-stapled mucosectomy.

Methods: From January 2002 to March 2011, fourty-five patients underwent ileal pouch anal anastomosis with modified double-stapled mucosectomy technique and the clinical data obtained for these patients were reviewed.

Results: Patients with ulcerative colitis (n = 29) and familial adenomatous polyposis (n = 16) underwent ileal pouch-anal anastomosis with modified double-stapled mucosectomy.

Long-term results of intersphincteric resection for low rectal cancer.

Background: The aim of this study is to investigate the long-term therapeutic outcome of intersphincteric resection (ISR) as the treatment of ultra-low rectal cancer.

Methods: During January 2004 and October 2010, ISR was performed in 60 patients with ultra-low rectal cancer and their survival, local recurrence, and functional outcome were evaluated retrospectively.

Results: A total of 60 patients with tumors at a median distance of 42 (range 30-50) mm from the anal verge underwent ISR.

Total laparoscopic sigmoid and rectal surgery in combination with transanal endoscopic microsurgery: a preliminary evaluation in China.

Background: This study was designed to evaluate the feasibility and safety of total laparoscopic sigmoid and rectal surgery without abdominal incision in combination with transanal endoscopic microsurgery (TEM).

Methods: From May 2010 to October 2011, 34 patients with colon and rectal tumors were treated by total laparoscopic surgery without abdominal incision, and the clinical data of these patients were reviewed.

Results: All operations could be successfully accomplished without conversion to open surgery.

[Total laparoscopic sigmoid and rectal surgery combined with transanal endoscopic microsurgery].

Objective: To investigate the feasibility and short-term outcomes of total laparoscopic sigmoid and rectal surgery combined with transanal endoscopic microsurgery(TEM).

Methods: 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.

Results: All the 26 operations were successfully accomplished laparoscopically.

[Use of L-carnitine before percutaneous epididymal sperm aspiration-intracytoplasmic sperm injection for obstructive azoospermia].

Objective: To explore the use of L-carnitine before percutaneous epididymal sperm aspiration-intracytoplasmic sperm injection (PESA-ICSI) in the treatment of obstructive azoospermia.

Methods: 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.

[Analysis of 32 patients with rectal adenoma undergoing transanal endoscopic microsurgery].

Objective: To evaluate the safety and outcomes after transanal endoscopic microsurgery (TEM)for rectal adenoma.

Methods: Data of 32 patients undergoing TEM for rectal adenoma between September 2006 and February 2010 in the Ruijin Hospital were reviewed.

Results: The adenoma diameter ranged from 0.

Gene-gene interaction between COMT and MAOA potentially predicts the intelligence of attention-deficit hyperactivity disorder boys in China.

The catechol-O-methyltransferase (COMT) gene contains a functional polymorphism (Val158Met) affecting the activity of the enzyme, and the monoamine oxidase A (MAOA) gene contains a VNTR polymorphism (MAOA-uVNTR) that affects the transcription of the gene. COMT and MAOA each contribute to the enzymatic degradation of dopamine and noradrenaline. Prefrontal cortical (PFC) function, which plays an important role in individual cognitive abilities, including intelligence, is modulated by dopamine.

[Value of ligating the middle colic artery from the root in radical surgical treatment of right hemicolon cancer].

Objective: To compare the long-term outcome of ligating the middle colic artery in radical surgical treatment of right hemicolon cancer.

Methods: 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.

Results: 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.

Early apoptotic changes in human spermatozoa and their relationships with conventional semen parameters and sperm DNA fragmentation.

Aim: To investigate whether early apoptotic changes in spermatozoa can be significant markers for sperm quality.

Methods: 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.

[Association between serotonin 1D gene polymorphisms and attention deficit hyperactivity disorder comorbid or not comorbid learning disorder].

Objective: To investigate the relationship between two HTR1D gene polymorphisms, 1350T>C and 1236A>G polymorphisms, and attention deficit hyperactivity disorder (ADHD) comorbid or not comorbid learning disorder (LD).

Methods: Blood samples were taken from 91 trios with probands of ADHD comorbid LD and 181 trios with probands of ADHD not comorbid LD. DNA was extracted.

[Association between serotonin 2C gene polymorphisms and attention deficit hyperactivity disorder in children with or without comorbidity of disruptive behavior disorder].

Objective: 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.

[Association between serotonin 4 gene polymorphisms and attention deficit hyperactivity disorder comorbid or not comorbid disruptive behavioral disorder].

Objective: To investigate the relationship between three HTR4 gene polymorphisms, 83097 C>T, 83198 A>G as well as -36C>T polymorphisms, and attention deficit hyperactivity disorder (ADHD) comorbid or not comorbid disruptive behavioral disorder (DBD).

Methods: Blood samples were taken from 152 trios with probands of ADHD comorbid DBD and 173 trios with probands of ADHD not comorbid DBD. DNA was extracted.

[Association between serotonin 1D gene polymorphisms and attention deficit hyperactivity disorder comorbid or not comorbid disruptive behavior disorder].

Objective: To investigate the relationship between two HTR1D gene polymorphisms, that is 1350T > C and 1236A > G polymorphisms, and attention deficit hyperactivity disorder (ADHD) comorbid or not comorbid disruptive behavior disorder (DBD).

Methods: Blood samples were taken from 90 trios with probands of ADHD comrbid DBD and 182 trios with probands of ADHD not comorbid DBD. DNA was extracted.

[Association between dopamine beta hydroxylase gene and attention deficit hyperactivity disorder complicated with disruptive behavior disorder].

Objective: 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.

[Association between serotonin 2C gene polymorphisms and attention deficit hyperactivity disorder comorbid or not comorbid with learning disorder].

Objective: To investigate the relationship between two HTR2C gene polymorphisms, that is C-759T and G-697C polymorphisms, and attention deficit hyperactivity disorder (ADHD) comorbid or not comorbid learning disorder (LD).

Methods: Blood samples were taken from 189 trios with probands of ADHD comorbid LD (ADHD+LD) and 299 trios with probands of ADHD not comorbid LD (ADHD-LD). DNA was extracted and PCR was performed to amplify the fragments containing both C-759T and G-697C polymorphisms.

[Association of dopamine beta-hydroxylase polymorphism with attention deficit hyperactivity disorder in children].

Objective: To study the association of dopamine beta-hydroxylase gene 5' flanking region polymorphism-1021 C-->T with attention deficit hyperactivity disorder (ADHD) in Han children.

Methods: ADHD was diagnosed according to the DSM-IV criteria. DNA was extracted and PCR was performed to examine the DBH-1021C-->T polymorphism.