OBJECTIVE: To explore the genetic etiology of 46 Chinese pedigrees affected with Hereditary multiple exostoses (HME) and provide genetic counseling and reproductive intervention. METHODS: Whole-exome sequencing and Sanger sequencing were carried out on 87 patients from the 46 pedigrees to analyze the variants of EXT1 and EXT2 genes. Pathogenicity of the variants was assessed based on the guidelines from the American College of Medical Genetics and Genomics and Association for Molecular Pathology (ACMG/AMP). Prenatal diagnosis and preimplantation genetic testing (PGT) were provided for couples with identified pathogenic mutations. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: LL-SC-SG-2014-010). RESULTS: In total 17 and 22 pathogenic variants were respectively identified in the EXT1 and EXT2 genes, among which 5 EXT1 and 12 EXT2 variants were unreported previously. Three patients with no family history were found to harbor de novo variants of the EXT1 gene. Twenty nine couples had opted for PGT or underwent prenatal diagnosis following natural conception, and 17 healthy babies were born. CONCLUSION This study has clarified the genetic etiology of 45 HME pedigrees and identified 17 novel variants, which has enriched the mutational spectrum of the EXT1 and EXT2 genes. Reproductive intervention through PGT and prenatal diagnosis have prevented the recurrence of HME in these families.
Humans ; Female ; Male ; Pedigree ; Exostoses, Multiple Hereditary/diagnosis* ; N-Acetylglucosaminyltransferases/genetics* ; Adult ; Exostosin 1 ; Asian People/genetics* ; Genetic Testing ; Exostosin 2 ; Mutation ; China ; Prenatal Diagnosis ; Pregnancy ; Genetic Counseling ; Preimplantation Diagnosis ; Exome Sequencing ; East Asian People

This paper discussed and elucidated the significance of establishing a corpus of English translation for the TCM terms of health preservation. To investigate the necessity and feasibility of corpus, we have explored the domestic and international researchs of the data sources and corpora and translation of TCM terms. We also predicted the prospect of application of this corpus.

Objectives This paper aimed at exploring the principles and strategies of TCM terminology translation by analyzing the translation of four-character pathogenesis TCM terms of spleen and stomach. Methods Among the verb translation of four-character pathogenesis TCM terms of spleen and stomach from the three prominent national and international dictionaries of TCM terminologies, the researcher chose 12 verbs to conduct a comparative study analyzing the similarities and differences of the English translation under the guidance of accuracy and systematization, two main principles of terminology translation. Results A recommended translation version of these 12 verbs was provided. Conclusion This paper suggested that verb transltion is the key in four-character TCM terminology translation, and verb should be translated in the form of noun and V-ing. TCM terminology translation should employ the principle of accuracy and systematization, together with simplicity, nationality and back-translation.

A data-based quantitative study was conducted by examining 43 bilingual package inserts of Chinese medicine. The results indicated that most inserts were poorly constructed with incomplete formats. Furthermore, there seemed no standardized translationforthe section titles, and some of them were even translated incorrectly. It was suggested that insert translation should follow the “reader-centered principle” which was determined by its communicative purpose. Translators should take full advantage of intertextual reference and construct complete and standard insert formats of Chinese medicine, thus helping readers obtain information more quickly and easily. This paper intends to advance some suggestions concerning the text constructionof bilingual package inserts of Chinese medicineand help enterprises in this line increase their competitiveness in the international market.

English translation of three-character pathogenesis TCM terms was investigated in this paper from the perspective of accuracy and systematization,two main principles of terminology translation. The terms were classified into five categories according to the three-character syntactic structure, i.e. attributive-modifier structure, adverbial-modifier structure, subject-predicate structure, subject-predicate-object structure and verb-object structure. Further study was conducted to investigate the English translation of attributive-modifier structure terms by comparing four prominent national and international standards of TCM terminologies.

Objective To investigate the effect of ultrasound technology combined with Seldinger technique in the catheteration of peripherally inserted central catheter(PICC).Methods One thousand and eight malignant tumor patients undergoing PICC catheteration were divided into two groups:those with visible or palpable bouncy vein as the control group(n=540)and those with invisible or impalpable elbow vein as the experiment group(n=468).The control group were treated with PICC catheteration into the elbow vein as normal control group and in the experiment group the catheteration was done into the lower part of the upper arm of the basilic vein or brachial vein as the puncture point under the guidance of ultrasound with Seldinger technique.The two groups were compared in terms of success rate of one time puncturing, success rate of one time catheterization and postoperative phlebitis,venous thrombosis and catheter related infection rate.Result There were no significant difference in the success rate for one time puncturing,while the success rate of one time catheterization in the experiment group was significantly higher than that in the control group and the mechanical phlebitis,venous thrombosis,catheter related infection rate in the experiment group were significantly lower than those in the control group(P<0.001).Conclusion Ultrasound technology combined with Seldinger technique for PICC catheterization can obtain high success rate,lower postoperative complications and provide high security.

English translation of TCM pathogenesis terms was investigated in this paper from the perspective of universal features of translation. Small-sized Chinese and English parallel corpus of TCM pathogenesis terms was built to examine whether English translation of TCM pathogenesis terms bore the features of explicitation. Further study was conducted to investigate expliciatation revealed in different versions. Results showed that explicitation exists in the English translation of this field, consistent with Blum-Kulka’s (1986) Explicitation Hypothesis. At the same time, explicitation in English translation of TCM pathogenesis terms possesses its own characteristics. First, its pattern is different from that of literary works. There are mainly three types of explicitation, i.e. adding words, specifying, and explicitation of analogy/metaphor. Among these types, adding words is the most frequently used. In addition, more cases of explicitness are found in Chinese translators’ versions than those of foreign ones, which might be due to the different translation principles held by different translators. The unique philosophy of TCM is substantially different from that of western medicine, thus its unique way of expression may lead to the phenomenon of explicitation in English translation of TCM pathogenesis terms. The present study provides fresh evidence for the Explicitation Hypothesis.

Sperm-mediated gene transfer (SMGT) is one of the most methods in the transgenic animal research and the efficiency of spermatozoa binding and internalization exogenous DNA after sperm/DNA co-culture is important to a successful SMGT.In this study,the influencing factors of exogenous DNA uptake by spermatozoa were detected using DIG labeled EGFP as exogenous gene.The results demonstrated that porcine spermatozoa could spontaneously take up exogenous DNA which mainly binding occurs on the sub-acrosomal and nuclei region of the sperm head.The rate of spermatozoa binding exogenous DNA increased with the extending action of time.At 37℃ and 39℃,the rate of spermatozoa uptake exogenous DNA would not increase after 60 min incubation,and the similar result was observed on 90 min at 17℃.Binding rates and internalization rates of washed ejaculated sperm cells from the 15 boars varied between 6.57%-35.81% and 2.990%-24.66%,respectively.The binding rate and intemalization rate were mostly inhibited by seminal plasma.The binding rates were significantly increased by liposome and DMSO,respectively.Dead-spermatozoa could bind exogenous DNA,the intermalization process could not be completed.Furthermore,the highest binding rate was found in membrane broken spermatozoa as a result of freeze-thawing and this was independent of the sperm donors.