Novel variants in ACTL7A and PLCZ1 are associated with male infertility and total fertilization failure.

Total fertilization failure (TFF), which refers to fertilization failure in all mature oocytes, accounting for 5%-10% of in vitro fertilization (IVF) cycles and 1%-3% of intracytoplasmic sperm injection (ICSI) cycles in human. In this study, we recruited three unrelated primary infertile men with repeated cycles of TFF and performed whole-exome sequencing to identify the potential pathogenic variants. We identified homozygous or compound-heterozygous variants of paternal-effect genes ACTL7A and PLCZ1 that followed a Mendelian recessive inheritance pattern. Novel homozygous nonsense variant in ACTL7A [c.C146G: p.S49*] was identified in case 1, who came from a consanguineous family. Ultrastructural observation of ACTL7A-mutated spermatozoa by transmission electron microscopy (TEM) indicated that apparent increased thickness of perinuclear matrix and the acrosome was detached from the nuclear envelop. Besides, two novel compound-heterozygous variants in PLCZ1 were identified in case 2 [c.1174+3A>C:p.?; c.A1274G:p.N425S] and case 3 [c.136-1G>C:p.?; c.G1358A:p.G453D]. Mutated spermatozoa from case 2 with reduced expression of PLCZ1 showed apparent acrosome detachment by TEM analysis. And ICSI with assisted oocyte activation (ICSI-AOA) treatment can partly rescue the TFF. Taken together, our findings revealed that novel biallelic variants in the paternal-effect genes ACTL7A and PLCZ1 were associated with human TFF, which expanding the spectrum of genetic causes and facilitating the genetic diagnosis of male infertility with TFF.

Automatic Text Summarization for Public Health WeChat Official Accounts Platform Base on Improved TextRank.

With the rapid development of we-media information dissemination, WeChat official accounts platform has become an important way for people to obtain health related knowledge. However, the platform information is redundant, miscellaneous, and overloaded. In order to meet the increasingly accurate and efficient knowledge service needs of users, reorganizing and aggregating document knowledge resources is effective. If we use the way of artificial recognition to filter information, it will inevitably cause huge labor and time cost, and the effect is very little in front of massive articles. This paper proposes a text summarization method for the WeChat platform based on improved TextRank that takes into account both user demands and sentence features during the summarization process. The data source crawled from the Sogou WeChat platform. The results show that the TextRank algorithm has obvious hints on the accuracy of text summarization extraction after fusing the Word2vec model. The improved TextRank method, integrating user demands and sentence features into the model, makes the results of text summarization closer to the theme of the article and more able to meet the user demand. According to the complexity of the algorithm, this method is not suitable for the automatic summarization of long or multiple documents.

Preoperative Serum Gamma-Glutamyltransferase as a Prognostic Biomarker in Patients Undergoing Radical Cystectomy for Bladder Cancer.

BACKGROUND: Serum gamma-glutamyltransferase (GGT) has been reported to be correlated with survival in a variety of malignancies. However, its effect on patients with bladder cancer (BC) treated by radical cystectomy has never been evaluated. PATIENTS AND METHODS: We retrospectively evaluated 263 patients who underwent radical surgery in our center. Baseline features, hematologic variables, and follow-up data were obtained. The endpoints included overall survival (OS), cancer-specific survival (CSS), and disease-free survival (DFS). The relationship between GGT and survival were evaluated. RESULTS: The median follow-up period for all patients was 34.7 (22.9-45.9) months. At the last follow-up, 67 patients died, 51 patients died of cancer, 92 patients experienced disease recurrence. Patients with an elevated serum GGT had a higher rate of pT3-T4 tumors. Patients with a higher preoperative serum GGT had a lower rate of OS, CSS and DFS (P < 0.001 for all). Multivariate analysis identified that preoperative serum GGT was independent predictor of OS (HR: 3.027, 95% CI: 1.716-5.338; P < 0.001), CSS (HR: 2.115, 95% CI: 1.093-4.090; P = 0.026), DFS (HR: 2.584, 95% CI: 1.569-4.255; P < 0.001). Age, diabetes history, pathologic T stage, and lymph node status also were independent predictors of prognosis for BC patients. CONCLUSIONS: Our results indicated that preoperative serum GGT was an independent prognosis predictor for survival of BC patients after radical cystectomy, and can be included in the prognostic models.

Exogenous regucalcin negatively regulates the progression of cervical adenocarcinoma.

Cervical adenocarcinoma (CA) is a type of cervical cancer, and in previous decades its incidence has steadily increased. The upregulation of regucalcin (RGN) in various tumor cell types inhibits the progression of cancer. To understand the role of RGN in CA, RGN expression in human cervical cancer compared with normal tissues was analyzed using The Cancer Genome Atlas database (TCGA). Subsequently, transfection of lentivirus-mediated RGN into HeLa cells was conducted to study its function in tumor proliferation and metastasis. The expression of RGN and proteins associated with the Wnt/ß-catenin signaling pathway and epithelial-mesenchymal transition (EMT) were determined using reverse transcription-quantitative polymerase chain reaction and western blotting. Cell migration and invasion were evaluated using Transwell assays. Furthermore, cell proliferation, colony formation and cell cycle were assessed using the Cell Counting Kit-8, colony formation assay and flow cytometry, respectively. Lentivirus-mediated RGN effectively upregulated RGN expression, inhibited cell proliferation, retarded cellular invasion and promoted cell cycle arrest at the G2/M phase in HeLa cells. In addition, the expression levels of ß-catenin, p-glycogen synthase kinase (GSK)-3ß, matrix metalloproteinase (MMP)-3, MMP-7 and MMP-9 were effectively decreased, whilst those of E-cadherin and GSK-3ß were increased. The results suggest that RGN may be an inhibitory factor in tumorigenesis, and its mechanism of inhibiting tumor proliferation and metastasis may be associated with Wnt/ß-catenin signaling and EMT.

Minimally invasive video-assisted thyroidectomy: experience of 300 cases.

BACKGROUND: We report on patients selected for minimally invasive video-assisted thyroidectomy (MIVAT) over a 3-year period and evaluate the feasibility and effects of this procedure. METHODS: Between March 2005 and August 2008, 300 patients (36 male, 264 female; mean age = 54.6 years) underwent MIVAT using a single central incision with an average length of 2 cm (range = 1.5-3 cm), about 2 cm above the sternal notch. Small conventional retractors and dissectors, ultrasonic scalpel, 5-mm laparoscope, and a video screen were the instruments used. RESULTS: General anesthesia was used in 295 patients and regional block anesthesia in 5. MIVAT was performed successfully in 280 patients (93.3%). Conversion to open thyroidectomy with a 4-cm-long incision was required to achieve selective lymphadenectomy in 18 patients after frozen sections demonstrated differentiated thyroid carcinoma. Only two patients with benign thyroid nodules were converted because of large volume or massive hemorrhage from the upper pole vessels. Mean operative time was 35 min (range = 20-70 min) for unilateral lobectomy and 58 min (35-90 min) for bilateral thyroidectomy. No patients had wound infections, postoperative bleeding that required reoperation, permanent hypoparathyroidism, or bilateral recurrent laryngeal nerve palsy. However, permanent unilateral recurrent laryngeal nerve palsy appeared in five cases (1.7%), transient unilateral recurrent laryngeal nerve palsy in seven (2.3%), superior laryngeal nerve injury in five (1.7%), transient hypocalcemia in nine (3.0%), and mild skin burn from the ultrasonic scalpel in five (1.7%). Postoperative pain was minimal and better cosmetic results were obtained than conventional open thyroidectomy. Postoperative stay was shorter than with conventional open thyroidectomy. CONCLUSIONS: MIVAT appears to be safe and feasible in patients with benign thyroid nodules, with minimal injury and excellent cosmetic results. Furthermore, after properly lengthening the skin incision, MIVAT can be used for patients with large benign thyroid nodules or even early-stage differentiated thyroid carcinoma.