The laboratory physicians are high-level laboratory medicine talents who are in short supply in China at present. They should possess solid clinical and laboratory knowledge, skilled clinical laboratory techniques, clinical and laboratory analyzing ability, and good communicating skills. In our country, the resident training system for laboratory physicians has been basically established, but there is still room for improvement in the implementation of the training. In order to adapt to the needs of the new situation, focusing on the purpose of training and guided by the rules of standardized residency training, the clinical laboratory training base has kept exploring and practicing integrated teaching based on organ system in standardized residency training of clinical laboratory. Through the exploring and practicing, the clinical laboratory training base has tried to fulfill the integration of clinical disease diagnosis and treatment and laboratory analysis, to gradually establish a distinctive training and teaching model for laboratory physicians, and to train laboratory physicians to get competent to the work with initial ability. Meanwhile, the clinical laboratory training base has explored characterized experience for the training of master′s degree of clinical laboratory diagnostics in"Laboratory physician training experimental class".

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.

ObjectiveTo prepare matrine lipid-based cubic liquid crystalline nanoparticle （MAT-LLCN） gels and investigate its in vitro release and transdermal absorption behavior. MethodTaking entrapment efficiency as the index， the optimal formulation of MAT-LLCN was screened by extreme vertex mixture method based on the optimal ratio of glycerol monooleate （GMO） to poloxamer 407 （P407）， and its drug loading was investigated. MAT-LLCN gels was prepared by mixing MAT-LLCN with pre-swelled carbomer 940 as the gel matrix. The structure of MAT-lipid-based cubic liquid crystalline （LLC） was characterized by polarized light microscopy （PLM） and small angle X-ray scattering （SAXS）. The in vitro release and transdermal absorption properties of MAT-LLCN gels and MAT ordinary gels were compared by modified Franz diffusion cell method， skin structure changes caused by them were observed by hematoxylin-eosin （HE） staining. ResultThe optimal formulation of MAT-LLCN gels was 5.5% of GMO-P407 （9∶1）， 1%-6% of MAT， 0.6% of carbomer 940， adding water to sufficient amount. The prepared MAT-LLC was confirmed as body-centered （Im3m） LLC. The in vitro release behavior of MAT-LLCN gels was in accordance with the Weibull equation （R²=0.954 0）， and the release mechanism was the Fick diffusion. In vitro transdermal test showed that all the parameters of MAT-LLCN gels were higher than those of MAT ordinary gels （P<0.05）， including cumulative release rate， steady-state release rate and the amount of drug retention in skin. HE staining results showed that MAT-LLCN gels could loose the cellular arrangement of skin stratum corneum， and maintain the stability of the cell structure of the dermis. ConclusionThe prepared MAT-LLCN gels can accelerate the transdermal drug transport and form drug storage in the dermis by rapidly opening the skin stratum corneum barrier， suggesting that LLC has good application prospects in the field of transdermal drug delivery.

Objective:To detect the changes in mental arithmetic competence and the related influencing factors in patients with early Parkinson's disease(PD)by using mental arithmetic task behavioral experiment.Methods:Thirty-one patients with early PD and 40 healthy controls were enrolled in this study.The cognitive functions were tested by mini-mental state examination(MMSE)and Montreal cognitive assessment(MoCA). The differences of mental arithmetic competence between the two groups were measured by behavioral experiment.Results:There was no significant difference in correct rate, reaction time and post-corrected reaction time while performing baseline tasks and easy mental arithmetic tasks between the two groups( P>0.05). The reaction time had no significant difference between the two groups after adjusting some confounding factors( P>0.05). However, the correct rate while performing difficult mental arithmetic tasks was significantly lower( t=-2.232, P=0.029)and the reaction time was significantly longer( t=2.149, P=0.035)in PD group than in the controls, and the significant difference in reaction time persisted even after adjusting some confounding factors( t=3.139, P=0.003). In PD group, the correct rate of difficult mental arithmetic tasks was positively associated with MoCA scores( r=0.561, P=0.004), and negatively associated with age( r=-0.532, P=0.008). The reaction time and post-corrected reaction time while performing difficult metal arithmetic task were negatively associated with MoCA scores( r=-0.525, P=0.01; r=-0.554, P=0.005)and positively associated with age( r=0.485, P=0.037; r=0.514, P=0.012)in PD group. Conclusions:The difficult mental arithmetic competence is impaired in early PD patients, which is statistically significantly correlated with cognitive function and age.

OBJECTIVE: To compare the efficacy and safety of different antiviral and antifibrotic regimens in patients with chronic hepatitis B (CHB) and hepatic fibrosis and the incidence of hepatocellular carcinoma (HCC) associated with these therapies. METHODS: A total of 840 patients with CHB and concurrent hepatic fibrosis, who received antiviral therapy in Nanfang Hospital between June, 2010 and June, 2018, were enrolled in this follow-up cohort study. The patients were assigned to 3 cohorts matched for gender, age (difference≤5 years), HBeAg status and liver stiffness measurement (LSM) for treatment with one of the 3 antiviral drugs, namely entecavir, tenofovir dipivoxil and adefovir dipivoxil; each cohort was divided into 2 groups, with one of the groups having a combined treatment with Fufang Biejiaruangan tablet. The cumulative negative conversion rate of HBV DNA, normalization rate of ALT, hepatic fibrosis regression and the incidence of HCC were compared among the 3 cohorts and across the 6 groups at 144 weeks. RESULTS: A total of 749 patients were available to follow-up at 144 weeks. Compared with the baseline data, the cumulative negative conversion rate of HBV DNA increased gradually and the abnormal rate of ALT decreased significantly over time during the treatment in all the 6 groups (all < 0.001). Compared with the any of the antiviral drugs used alone, the combined treatments all resulted in significantly better antifibrotic effects (χ=11.345, χ=10.160, χ=6.358; all < 0.05). At 144 weeks, the incidence of HCC were 2.2%, 1.7%, 1.7% and 3.3% in enecavir group, enecavir with Biejiaruangan tablet group, adefovir group, and adefovir with Biejiaruangan tablet group, respectively, showing no significant difference between the two cohorts (4 groups; χ=6.813, =0.138). None of the patients in the 2 groups with tenofovir treatment had HCC by the end of the observation. CONCLUSIONS Antiviral therapy combined with antifibrotic therapy can effectively reverse hepatic fibrosis and reduce the incidence of HCC in patients with CHB; among the 3 antiviral drugs, tenofovir dipivoxil can be a better option for reducing the incidence of HCC in these patients.
Antiviral Agents ; Carcinoma, Hepatocellular ; etiology ; DNA, Viral ; Follow-Up Studies ; Hepatitis B e Antigens ; Hepatitis B virus ; Hepatitis B, Chronic ; complications ; Humans ; Liver Cirrhosis ; complications ; Liver Neoplasms ; etiology ; Prospective Studies

To evaluate the feasibility and safety of colon stenting as bridge surgery for colorectal cancer obstruction.
 Methods: A total of 30 patients (stent group), who underwent colonic stenting for colorectal obstruction at the Third Xiangya Hospital, Central South University from September 2015 to June 2017, were selected to receive the preoperative bridge surgery. Technical success rates, clinical success rates, and stent-related complications were observed. A total of 38 patients (emergency surgery group), who underwent surgical operation for colorectal obstruction, served as a control. The tumor resection rate at Stage I, ostomy rate, hospitalization time, and hospitalization cost were compared between the 2 groups.
 Results: The technical success and clinical success rates were 100.0% and 90.0% in the stent group, respectively. The stent-related complications included bleeding in 2 cases (6.7%), micro-perforation in 1 case (3.3%), stent displacement in 1 case (3.3%), and stent occlusion in 3 cases (10.0%) in the stent group. The Stage I tumor resection rate in the stent group was significantly higher than that in the emergency surgery group (90.0% vs 68.4%, P<0.01). The incidence of anastomotic leakage in the stent group was lower than that in the emergency surgery group (3.3% vs 10.5%, P<0.05); the stoma rate in the stent group was lower than that in the emergency surgery group (13.3% vs 44.7%, P<0.01). The surgical complications occurred in the stent group were significantly lower than those in the emergency surgery group (20.0% vs 47.3%, P<0.01). The average hospital stay in the stent group was lower than that in the emergency surgery group (20.0 vs 24.5 days, P<0.05). There was no significant difference in hospitalization costs between the 2 groups (P>0.05).
 Conclusion: Preoperative colonic stenting for colorectal obstruction surgery as a bridge is feasible in terms of methods, and which can significantly increase the Stage I tumor resection rate, reduce the ostomy rate, decrease surgical complications, shorten the average length of hospital stay, and reduce patient suffering.
Colorectal Neoplasms ; complications ; Humans ; Intestinal Obstruction ; etiology ; therapy ; Stents ; Treatment Outcome

Objective To investigate the relationship between two single nucleotide polymorphisms (rs356219,rs356165 sites) and cognitive dysfunction in Parkinson disease.Methods 236 patients with Parkinson's disease were randomly selected from November 2014 to November 2017.According to the results of MoCA cognitive function evaluation,the patients were divided into group A (cognitive dysfunction group)and group B (normal cognition group).At the same time,65 patients were randomly selected as group C (Health control group).The allele frequency and genotype distribution of rs356219 and rs356165 were compared,and the differences among the three group were compared.Results In the rs356165 allele frequency,group A (G:57.14％,A:42.86％),group B (G:56.45％,A:43.55％) and group C (G:52.31％,A:47.69％) had no statistical significance (P＞ 0.05).In the rs356165 genotype,G/G (21.43％) and A/A (14.29％) in group A were higher than group C (G/G:4.62％,A/A:1.54％),G/G (22.58％) in group B and A/A (14.52％) were higher than group C G/G (4.62％) and A/A (1.54％) (P＜ 0.05).In the rs356219 allele frequency,group A (G:64.29％,A:64.29％) and group B (G:64.52％,A:35.486％) and group C (G:46.15％,A:53.85％) was statistically significant (P＜0.05),but no statistical significance between group A and group B (P＞0.05);In the rs356219 genotype,group A (G/G:35.71％,A/A:21.43％,A/G:42.86％),group B (G/G:35.48％,A/A:22.58％,A/G:41.94％) and group C (G/G:30.77％,A/A:26.15％,A/G:43.08％) had no statistical significance (P＞ 0.05),and there was no statistical significance between group A and group B (P＞0.05).Conclusions The polymorphism of rs356219 and rs356165 sites in rho-synaptic nucleoprotein plays an important role in the pathogenesis of Parkinson disease.However,there was no correlation with cognitive dysfunction in patients with Parkinson disease.

Objective:To explore the function of esophageal small balloon or papillary sphincter knife in the treatment of stent implantation for colorectal malignant obstruction,and to improve the success rate of colonic stent placement in such patients.Methods:A total of 49 patients with colorectal cancer complicated with almost complete obstruction or colorectal cancer were enrolled for this study.The esophageal small balloon or papillary sphincter knife was used in the guide wires.The guide wires gradually crossed the tumor gap and they were placed in the contralateral intestinal cavity with balloon progression.X-ray was then used to confirm whether the guide wire was inserted in the lesion intestinal cavity,and then the metal bare stent was inserted.Results:The guide wires was successfully inserted with conventional methods in these 49 cases,while they were also successfully placed the guide wire and the stent in the new way.Conclusion:For the patients with colorectal cancer complicated with complete obstruction or colorectal cancer located in obviously angled location,the use of esophageal small balloon or papillary sphincter knife can help the guide wire insert.They greatly improve the success rate of stent implantation.

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.

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.