A novel frameshift mutation in DNAH6 associated with male infertility and asthenoteratozoospermia.

Introduction: Asthenoteratozoospermia is one of the most common causes of male infertility. Several genes have been identified as genetic causative factors, but there is a considerable genetic heterogeneity underlying asthenoteratozoospermia. In this study, we performed a genetic analysis of two brothers from a consanguineous Uighur family in China to identify gene mutations causative for asthenoteratozoospermia-related male infertility. Methods: Two related patients with asthenoteratozoospermia from a large consanguineous family were sequenced by whole-exome sequencing and Sanger sequencing to identify disease-causing genes. Scanning and transmission electron microscopy analysis revealed ultrastructural abnormalities of spermatozoa. Quantitative real-time PCR (qRT-PCR) analysis and immunofluorescence (IF) analysis were used to assess the expression of the mutant messenger RNA (mRNA) and protein. Results: A novel homozygous frameshift mutation (c.2823dupT, p.Val942Cysfs*21) in DNAH6 was identified in both affected individuals and was predicted to be pathogenic. Papanicolaou staining and electron microscopy revealed multiple morphological and ultrastructural abnormalities of affected spermatozoa. qRT-PCR and IF analysis showed abnormal expression of DNAH6 in affected sperm, probably due to premature termination code and decay of abnormal 3' untranslated region (UTR) region of mRNA. Furthermore, intracytoplasmic sperm injection could achieve successful fertilization in infertile men with DNAH6 mutations. Discussion: The novel frameshift mutation identified in DNAH6 may contribute to asthenoteratozoospermia. These findings expand the spectrum of genetic mutations and phenotypes associated with asthenoteratozoospermia and may be useful for genetic and reproductive counseling in male infertility.

Ergonomic status of laparoscopic urologic surgery: survey results from 241 urologic surgeons in china.

BACKGROUND: The prolonged and frequent use of laparoscopic equipment raises ergonomic risks that may cause physical distress for surgeons. We aimed to assess the prevalence of urologic surgeons' physical distress associated with ergonomic problems in the operating room (OR) and their awareness of the ergonomic guidelines in China. METHODS: A sample of 300 laparoscopic urologists in China was assessed using a questionnaire on demographic information, ergonomic issues in the OR, musculoskeletal symptoms, and awareness of the ergonomic guidelines for the OR. RESULTS: There were 241 survey respondents (86.7%) with valid questionnaires. Among the respondents, only 43.6% placed the operating table at pubic height during the actual operation. The majority of the respondents (63.5%) used only one monitor during the procedure. Only 29.9% placed the monitor below the eye level. More than half of the respondents (50.6%) preferred to use manual control instead of the foot pedal. Most of the respondents (95.0%) never used the body support. The respondents experienced discomfort in the following regions, in ascending order: leg (21.6%), hand (30.3%), wrist (32.8%), shoulder (33.6%), back (53.1%), and neck (58.1%). The respondents with over 250 total operations experienced less discomfort than those with less than 250 total operations. Most of the respondents (84.6%) were unaware of the ergonomic guidelines. However, almost all of the respondents (98.3%) regarded the ergonomic guidelines to be important in the OR. CONCLUSIONS: Most of the laparoscopic urologists were not aware of the ergonomic guidelines for the OR; hence, they have been suffering from varying degrees of physical discomfort caused by ergonomic issues. There is an urgent need for education regarding ergonomic guidelines in the OR for laparoscopic urologists in China.

Diagnosis and treatment of retroperitoneal fibrosis: A case report.

Retroperitoneal fibrosis (RPF) is a rare disease of unclear etiology, which is characterized by a chronic non-specific inflammation of the retroperitoneum. The present study reports the case of a 36-year-old male with a 3-month history of lower right abdominal pain (intermittent) and weight loss (5 kg). A mass was identified that covered the surface of the abdominal aorta and the inferior vena cava near the right renal hilum. Three shots with an automated gun were employed to biopsy the mass. The patient began taking prednisone one month subsequent to the surgery at a dose of 10 mg, three times a day once a month and at continuously reducing doses for 1 year. CT scans showed that the retroperitoneal mass decreased in size with the progression of the treatment and that the mass had almost disappeared on the final month's MRI scan. In conclusion, the diagnosis of retroperitoneal fibrosis is an effective process that excludes the other diagnoses for the lesion. A biopsy of the mass is a necessity for the final stage of diagnosis and is supported by the response to the steroid treatment.