Objectives: . Branchio-oto syndrome (BOS) primarily manifests as hearing loss, preauricular pits, and branchial defects. EYA1 is the most common pathogenic gene, and splicing mutations account for a substantial proportion of cases. However, few studies have addressed the structural changes in the protein caused by splicing mutations and potential pathogenic factors, and several studies have shown that middle-ear surgery has limited effectiveness in improving hearing in these patients. BOS has also been relatively infrequently reported in the Chinese population. This study explored the genetic etiology in the family of a proband with BOS and provided clinical treatment to improve the patient’s hearing. Methods: . We collected detailed clinical features and peripheral blood samples from the patients and unaffected individuals within the family. Pathogenic mutations were identified by whole-exome sequencing and cosegregation analysis and classified according to the American College of Medical Genetics and Genomics guidelines. Alternative splicing was verified through a minigene assay. The predicted three-dimensional protein structure and biochemical experiments were used to investigate the pathogenicity of the mutation. The proband underwent middle-ear surgery and was followed up at 1 month and 6 months postoperatively to monitor auditory improvement. Results: . A novel heterozygous EYA1 splicing variant (c.1050+4 A>C) was identified and classified as pathogenic (PVS1(RNA), PM2, PP1). Skipping of exon 11 of the EYA1 pre-mRNA was confirmed using a minigene assay. This mutation may impair EYA1-SIX1 interactions, as shown by an immunoprecipitation assay. The EYA1-Mut protein exhibited cellular mislocalization and decreased protein expression in cytological experiments. Middle-ear surgery significantly improved hearing loss caused by bone-conduction abnormalities in the proband. Conclusion . We reported a novel splicing variant of EYA1 in a Chinese family with BOS and revealed the potential molecular pathogenic mechanism. The significant hearing improvement observed in the proband after middle-ear surgery provides a reference for auditory rehabilitation in similar patients.

Objective To explore the solution for regional population health information platform based on the involvement of internet plus and big data.MethodsThe objective and contents of the platform were discussed,and its logic structure and deployment architecture were designed.The functions of a platform-based application system and two information integration platforms were described.The key technical links of the system were demonstrated.Results The solution for regional population health information platform based on internet plus completed population health information service system,and laid a foundation for the application of medical big data.Conclusion The solution contributes to the inter-connection and communication between medical fields in some region,promotes healthcare informatizatoin platform and is thus worthy applying practically.

Objective:To investigate the correlation of serum hs-CRP,D-dimmer and Lp-PLA2 with vulnerable plaque of coronary artery atherosclerosis in patients with coronary heart disease.Methods:Selected 106 cases of patients in our hospital from January 2014 to December 2015,all taken coronary angiography and intravascular ultrasound.Divided into three groups according to the results of the examination,the levels of serum hs-CRP,D-dimmer and Lp-PLA2 were examined and compared,and the correlation with fiber cap thickness,plaque eccentricity index,and vascular remodeling index were tested by Pearson correlation analysis.Results:Serum levels of hs-CRP,D-dimmer and Lp-PLA2 of vulnerable plaque group and stable plaque group were significantly higher than that of the control group (P＜0.05),and the serum levels of hs-CRP,D-dimmer and Lp-PLA2 of vulnerable plaque group were significantly higher than that of stable plaque group (P＜0.05);hs-CRP was negative correlated with the thickness of fibrous cap (r=-0.712,P＜0.05),and positive correlated with eccentric plaque index and vascular remodeling index (r=0.813,0.756;D-,P＜0.05),D-dimmer was negative correlated with the thickness of fibrous cap (r=-0.654,P＜0.05),and positive correlated with eccentric plaque index and vascular remodeling index (r=0.912,0.853,P＜0.05);Lp-PLA2 was negative correlated with the thickness of fibrous cap (r=-0.796,P＜0.05),and positive correlated with eccentric plaque index and vascular remodeling index (r=0.836,0.729,P＜0.05).Conclusion:Hs-CRP,D-dimmer and Lp-PLA2 have high correlation with vulnerable plaque in coronary artery disease,can be used as reference indexes for assessing the instability of coronary atherosclerotic plaque.

This paper summarizes the clinical diagnosis and treatment of imported African schistosomiasis,in order to make the therapeutic standards. Imported African schistosomiasis includes mainly schistosomiasis haematobia and schistosomiasis mansoni in China. In order to set up the operational standards,enhance diagnostic and cure rates,and reduce the complica?tions,we review the related literature combined with our experience over years,and summarize,in this paper,the pathogenic mechanism,and key points of clinical diagnosis and treatment of schistosomiasis haematobia and schistosomiasis mansoni,so as to provide the reference for clinical doctors.

The medical assistance to advanced schistosomiasis patients established by the Chinese government is a major public facility for patients with advanced schistosomiasis. Since the medical assistance to advance schistosomiasis patients in Hu?nan Province started ten years ago,a set of mature and operable programs with whole program management and related technolo?gies has been developed. The author investigated the data on medical assistance to advanced schistosomiasis patients in Hunan Province during the last 10 years(from 2006 to 2015)retrospectively,and found that the program had high therapeutic effect and high satisfaction degree of both patients and the society. In order to improve the management of the medical assistance to ad?vanced schistosomiasis patients and share our experiences of the whole program management and related technologies with the colleagues of other provinces,this paper mainly illustrates the experiences of the program,as well as the existing problems and related strategies.

OBJECTIVETo investigate the expression of miR-126/miR-126* in hepatocellular carcinoma (HCC) tissues and its clinical significance.

METHODSThe expressions of miR-126/miR-126* in the tumor tissues and non-cancer tissues from 74 HCC cases were detected using real-time quantitative PCR. The correlation between miR-126/miR-126* expression and the clinicopathological features of the patients was analyzed.

RESULTSCompared with the non-cancer tissues, HCC tissues showed significantly lowered expression levels of miR-126/miR-126*. A positive correlation was found between the expressions of miR-126 and miR-126* in the tumor tissues. Lower expressions of miR-126/miR-126* were significantly correlated with tumor recurrence and poor survival of the HCC patients.

CONCLUSIONThe down-regulation of miR-126/miR-126* may play an important role in HCC metastasis and contributes to poor survival of HCC patients.

Carcinoma, Hepatocellular ; genetics ; metabolism ; Down-Regulation ; Humans ; Liver Neoplasms ; genetics ; metabolism ; MicroRNAs ; genetics ; metabolism ; Neoplasm Recurrence, Local ; Real-Time Polymerase Chain Reaction

OBJECTIVETo investigate the surgical techniques and appropriate perioperative management for ensuring successful orthotopic liver transplantation (ROLT) in rats.

METHODSBased on the double-cuff technique of Kamada, we modified the surgical techniques of separation, perfusion and cold preservation of the donor liver, shearing and anastomosis of the suprahepatic vena cava with optimized postoperative infusion protocols and animal care.

RESULTSTwo hundred and seventy rats underwent ROLT and a learning curve of the success rate was built to reflect the improvement of techniques. The learning curve showed steep improvements over the exploration stage, breakthrough stage and maturation stage, and the success rates increased sharply over time (0%, 71.1%, and 94.5%, respectively) until finally reaching over 90%. The shearing and anastomosis of the suprahepatic vena cava remained the most critical and difficult techniques in ROLT modeling.

CONCLUSIONProficient microsurgical techniques and meticulous nursing can reduce postoperative complications, enhance operational success rate and extend the survival time after ROLT.

Anastomosis, Surgical ; Animals ; Disease Models, Animal ; Graft Survival ; Liver ; surgery ; Liver Transplantation ; methods ; mortality ; Perioperative Care ; Rats ; Rats, Sprague-Dawley

OBJECTIVETo detect the expression of Nusap1 of surgical margins in hepatocellular carcinoma (HCC) and investigate its association with early tumor recurrence.

METHODSThe expression of Nusap1 in the surgical margins of HCC, which were histopathologically negative for tumor cells, was examined using immunohistochemistry in 61 HCC cases.

RESULTSFifteen of 21 (71.4%) cases with immunohistochemical positivity for Nusap1 expression in the surgical margins had early recurrence of HCC, a rate significantly higher than that in patients with negative Nusap1 expression (12/40, 30%) (P<0.05).

CONCLUSIONSNusap1 expression in the surgical margins of HCC is closely correlated to early postoperative recurrence and can serve as an indicator for predicting early recurrence of HCC.

Adolescent ; Adult ; Aged ; Carcinoma, Hepatocellular ; metabolism ; pathology ; surgery ; Female ; Humans ; Immunohistochemistry ; Liver Neoplasms ; metabolism ; pathology ; surgery ; Male ; Microtubule-Associated Proteins ; metabolism ; Middle Aged ; Neoplasm Recurrence, Local ; pathology ; Young Adult

Objective To investigate the surgical techniques and appropriate perioperative management for ensuring successful orthotopic liver transplantation (ROLT) in rats. Methods Based on the double-cuff technique of Kamada, we modified the surgical techniques of separation, perfusion and cold preservation of the donor liver, shearing and anastomosis of the suprahepatic vena cava with optimized postoperative infusion protocols and animal care. Results Two hundred and senventy rats underwent ROLT and a learning curve of the success rate was built to reflect the impovment of techniques. The learning curve showed steep improvemts over the exploration stage, breakthrough stage and maturation stage, and the success rates incresed sharply over time (0%, 71.1%, and 94.5%, respectively) until finnally reaching over 90%. The shearing and anastomosis of the suprahepatic vena cava remained the most critical and difficult techniques in ROLT modeling. Conclusion Proficient microsurgical techniques and meticulous nursing can reduce postoperative complications, enhance operational success rate and extend the survival time after ROLT.

Objective To investigate the surgical techniques and appropriate perioperative management for ensuring successful orthotopic liver transplantation (ROLT) in rats. Methods Based on the double-cuff technique of Kamada, we modified the surgical techniques of separation, perfusion and cold preservation of the donor liver, shearing and anastomosis of the suprahepatic vena cava with optimized postoperative infusion protocols and animal care. Results Two hundred and senventy rats underwent ROLT and a learning curve of the success rate was built to reflect the impovment of techniques. The learning curve showed steep improvemts over the exploration stage, breakthrough stage and maturation stage, and the success rates incresed sharply over time (0%, 71.1%, and 94.5%, respectively) until finnally reaching over 90%. The shearing and anastomosis of the suprahepatic vena cava remained the most critical and difficult techniques in ROLT modeling. Conclusion Proficient microsurgical techniques and meticulous nursing can reduce postoperative complications, enhance operational success rate and extend the survival time after ROLT.