Background
Congenital absence of vas deferens (CAVD) is a major cause of obstructive azoospermia. Mutations in CFTR and ADGRG2 are responsible for this disease. However, until now the genetic ...spectrum of the CFTR and ADGRG2 genes in Chinese population and the reasons of the differences from Caucasian cohorts were not clear.
Objectives
(i) To study the characteristic and functional consequences of CFTR and ADGRG2 mutations in Chinese CAVD patients. (ii) To describe the genetic spectrum of Chinese CAVD patients and explain the reasons of the differences from Caucasian cohorts and Chinese cystic fibrosis (CF) patients.
Materials and Methods
Patients were screened for mutations in CFTR by Sanger sequencing. Patients with only one or no mutations were further investigated by multiplex ligation‐dependent probe amplification analysis and direct sequencing of ADGRG2 gene. Bioinformatic analysis and structural modeling of proteins were performed.
Results
A total of 28 mutations in CFTR were identified in 72 patients, of which five mutations were novel. Fifty‐five patients (76.39%) had CFTR mutations but no indels, among which 80.00% CBAVD patients have at least one CFTR mutation and 66.67% CUAVD have at least one CFTR mutation. Two novel mutations (p.Lys818* and p.Arg1008Gln) in ADGRG2 were detected. These novel mutations were predicted to be damaging by bioinformatics and were absent or extremely low frequency among our controls and databases. The genetic spectrum of Chinese CAVD patients revealed that the most common mutations were c.1210‐12T5, p.Ile556Val and p.Gln1352His, the last two of which were predicted to reduce the domains’ contacts and weaken adenosine triphosphate binding.
Discussion and Conclusion
This study illustrates the significance of all exon sequencing in CFTR and ADGRG2. A picture of the genetic spectrum of Chinese CAVD patients and the most common mutations can be described, which are different from Caucasian cohorts and Chinese CF patients.
This study aimed to evaluate the feasibility and performance of Arndt-endobronchial blocker (Arndt) combined with laryngeal mask airway (LMA) compared with left-sided double-lumen endobronchial tube ...(L-DLT) in morbidly obese patients in one-lung ventilation (OLV). In a prospective, randomized double-blind controlled clinical trial, 80 morbidly obese patients (ASA I-III, aged 20-70) undergoing general anesthesia for elective thoracic surgeries were randomly allocated into groups Arndt (n=40) and L-DLT (n=40). In group Arndt, a LMA™ Proseal was placed followed by an Arndt-endobronchial blocker. In group L-DLT, patients were intubated with a left-sided double-lumen endotracheal tube. Primary endpoints were the airway establishment, ease of insertion, oxygenation, lung collapse and surgical field exposure. Results showed similar ease of airway establishment and tube/device insertion between the two groups. Oxygen arterial pressure (PaO2) of patients in the Arndt group was significantly higher than L-DLT (154±46 vs 105±52 mmHg; P<0.05). Quality of lung collapse and surgical field exposure in the Arndt group was significantly better than L-DLT (effective rate 100 vs 90%; P<0.05). Duration of surgery and anesthesia were significantly shorter in the Arndt group (2.4±1.7 vs 3.1±1.8 and 2.8±1.9 vs 3.8±1.8 h, respectively; P<0.05). Incidence of hoarseness of voice and incidence and severity of throat pain at the post-anesthesia care unit and 12, 24, 48, and 72 h after surgery were significantly lower in the Arndt group (P<0.05). Findings suggested that Arndt-endobronchial blocker combined with LMA can serve as a promising alternative for morbidly obese patients in OLV in thoracic surgery.
To investigate the prognostic factors of primary liver cancer treated with transcatheter arterial chemoembolization (TACE) combined with radiofrequency ablation (RFA), and then to establish a ...prognostic model.
Clinicopathological and follow-up data of 145 patients who underwent TACE combined with RFA from January 2010 to December 2012 were retrospectively analyzed. Univariate and multivariate survival analyses were performed using the Cox proportional hazards model, and the prognostic model was established.
The 1, 2, and 3-year survival rates were 92.6%, 81.4% and 66.2%, respectively. The 3-year recurrence and metastasis rate was 64.8%.Multivariate analysis showed that female cases and higher serum albumin levels were the protective factors for the 3-year overall and relapse-free survival of patients(
<0.05 for all). High levels of alpha-fetoprotein (AFP), alanine aminotransferase (ALT), total bilirubin (TBIL), portal vein thrombosis and higher Child Pugh stages were the independent risk factors for the 3-yea
To conduct a retrospective analysis of clinicopathological data of patients with Siewert type Ⅱand Ⅲ adenocarcinoma of the esophagogastric junction (AEG), who underwent total gastrectomy (TG) or ...proximal gastrectomy (PG), to discuss the differences between the two groups in 3-year and 5-year survival rates, postoperative complications and so forth, and to provide theoretical and clinical basis for choosing an ideal surgical approach for patients with Siewert typeⅡ and ⅢAEG.
The clinical data of 163 patients who underwent radical gastrectomy from January 2006 to December 2008 were analyzed retrospectively. Among them, 85 patients received total gastrectomy (group TG) and 78 patients received proximal gastrectomy (group PG). The 3-year and 5-year survival rates, and postoperative complication rate and mortality rate in the two groups were followed up and compared.
The 3-year and 5-year survival rates of the group TG were 71.4% and 47.6%, and those of the group PG were 56.6% and 34.7%, showing a statistically si
Phosphorus induced embrittlement of welding heat affected zones (HAZs) in a 2·25Cr-1Mo steel was examined by measuring the ductile to brittle transition temperature (DBTT) of the HAZs simulated with ...a peak temperature of 1320°C at different welding heat inputs. At the same heat input, the DBTTs of the HAZs in the P doped samples were apparently higher than those in the undoped samples and phosphorus grain boundary segregation was mainly responsible for the DBTT increase. A critical welding heat input was found to be between 36 and 100 kJ cm
−1
, being close to 60 kJ cm
−1
, at which the maximum segregation of phosphorus could be produced during the corresponding thermal cycling, leading to the maximum DBTT difference between the P doped and undoped samples.
•We investigated highly efficient green and red phosphorescent OLEDs.•Two novel 1,3,5-triazine derivatives were used as effective host materials.•The high bipolar nature of the host is critical to ...this kind of doping system.•Suitable energy level is beneficial to efficient host-to-guest energy transfer.
We investigated highly efficient green and red phosphorescent organic light-emitting diodes (OLEDs) based on two kinds of iridium complexes as the guests and two novel 1,3,5-triazine derivatives as the host materials, respectively. For comparison, the devices using a common fluorescent host 4,4′-N,N′-dicarbazolebiphenyl (CBP) have also been fabricated. Results show that all devices using 1,3,5-triazine derivatives as host have better performance than that of CBP. This may be attributed to the adoption of the hosts, which have suitable HOMO/LUMO levels enabling excitons to form on host and hence favoring efficient energy-transfer from host to guest. In addition, the high bipolar carrier mobility of the host is found to be critical to this kind of doping system, which would balance the injection of both carriers and improve efficiency.
To investigate the association of plasma vitamin B
level with plasma uric acid level among the elderly over 65 in 9 longevity areas of China.
The elderly over 65 years old with complete information ...on plasma vitamin B
and plasma uric acid from Healthy Aging and Biomarkers Cohort Study (2017 to 2018) were recruited in this study. Information on socio-demographic characteristics, life styles, diet intake, and health status were collected by questionnaire and physical examination; and fasting venous blood was collected to detect the levels of plasma vitamin B
, uric acid and other indicators. Multiple linear regression models were used to analyze the association of plasma vitamin B
level per interquartile range increase with plasma uric acid level. The association trend of plasma vitamin B
level with plasma uric acid level was described by restrictive cubic splines fitting multiple linear regression model. Multiple logistic regression models were used to analyze the association of plasma vitamin B
level stratifi
Summary
The ecological functions of many toxins continue to remain unknown for those produced by environmental pathogens. Mycobacterium ulcerans, the causative agent of the neglected tropical ...disease, Buruli ulcer, produces a cytotoxic macrolide, mycolactone, whose function(s) in the environment remains elusive. Through a series of dual‐choice behaviour assays, they show that mycolactone may be an interkingdom cue for the yellow fever mosquito, Aedes aegypti, seeking blood‐meals as well as oviposition sites. Results provide novel insight into the evolution between bacteria and potential vectors. While further studies are needed to determine if mycolactone is an actual signal rather than simply a cue, this discovery could serve as a model for determining roles for toxins produced by other environmental pathogens and provide opportunities for developing novel strategies for disease prevention. The relationship between M. ulcerans, mycolactone, and Ae. aegypti further suggests there could be an amplification effect for the spread of pathogens responsible for other diseases, such as yellow fever and dengue.
Aim
The aim was to evaluate the incidence and type of defects that occurred with K3 rotary nickel–titanium instruments during routine clinical use.
Methodology
A total of 2397 K3 (G‐PACKS, ...SybronEndo, West Collins, Orange, CA, USA) instruments were collected from a graduate endodontic clinic over 21 months. All the instruments were limited to a maximum use of 30 canal preparations. The collected instruments were measured by a digital caliper to determine whether any fractures had occurred and then were visually inspected for deformation and fracture under a stereomicroscope. The surfaces of fractured instruments were further evaluated under a scanning electron microscope. Data were analysed using chi‐square test and Kruskal–Wallis test.
Results
The incidence of instrument defect was 5.63%, consisting of 3.59% fractures and 2.05% deformations. The defect rates of 0.04 and 0.06 files were statistically higher than the other taper groups (P < 0.003) except for 0.08 files (P > 0.05). For the fractured instruments, 63.95% failed from flexural fatigue, whilst 36.05% failed from torsion.
Conclusion
Flexural fracture was the major mode of fracture for instruments with larger taper. A routine check for instrument integrity particularly for 0.04 and 0.06 files at high magnification is recommended after each clinical use.
We analyze here the basic philosophy of alloy design and process–structure–property paradigm in pipeline steels. Microstructure of pipeline steels of yield strength in the range of 65ksi (450MPa) to ...120ksi (840MPa) was characterized and the key factors that influenced the microstructure and mechanical properties of pipeline steels were examined. Based on the experimental results and analysis, it is underscored that optimizing C and Mn contents is important to eliminate undesired microstructure and obtain high toughness in pipeline steels. Adequate amount of ferrite is necessary to ensure high deformability of high grade pipeline steels. In ultrahigh strength pipeline steels, bainite obtained through rational alloy design (Mo, B), and suitable processing route (especially high cooling rate and low end cooling temperature) is beneficial in obtaining high strength–toughness combination.
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