Novel mutation in SCO2 of patients with high myopia from Enshi Tujia and Miao Autonomous Prefecture of China / 国际眼科杂志(Guoji Yanke Zazhi)

AIM: To evaluate the pathogenic variants of the SCO2(OMIM 604272)gene in patients with high myopia from Enshi Tujia and Miao Autonomous Prefecture of China.METHODS: A total of 384 patients with high myopia whose spherical refractive error was ≤ -6.00 D and whose axial length was ≥26.00 mm in at least one eye were recruited. DNA was extracted by the phenol-chloroform method from 5 mL of peripheral venous blood. Sanger sequencing was performed to identify pathogenic variants in exon 2 of SCO2. The detected variants were evaluated via in silico prediction software. A total of 288 people from the same district were included as the normal control cohort.RESULTS: Seven variants were detected, namely, four synonymous variants(c.201C>T/p.=, c.576C>T/p.=, c.633A>C/p.=, c.780T>C/p.=.), two missense variants(c.187A>G/p.Ile63Val, c.59G>C/p.Arg20Pro)and one nonsense variant(c.544C>T/p.Gln182*). The two missense variants were not damaging, as predicted by PolyPhen2, SIFT and Provean. The novel nonsense variant(c.544C>T/p.Gln182*)cannot be found in the 1000 Genomes Project and was not identified in 288 normal controls. Variant Taster suggested that the nonsense variant site was conserved.CONCLUSION: The newly identified nonsense mutation may be responsible for high myopia of the patients in our cohort. SCO2 is associated with high myopia, while the incidence of SCO2 variants in high myopia in this cohort was as low as 1/384; the nonsense mutation may be a scarce variant of high myopia in the Enshi Tujia and Miao Autonomous Prefecture of China.

The role and thinking of expert preliminary counselling in improving the funding rate of National Natural Science Fund / 中华医学科研管理杂志

Objective:In this study, we compared the funding rates of applicants who participated in the expert preliminary counseling with those who did not, to explore the role of the expert preliminary counseling in improving the funding rate of the National Natural Science Fund, so as to provide further reference for the management of scientific research.Methods:Statistical methods was used to analyze relevant data from 2012 to 2019 to compare the approval and funding rate of the applicants that participated in and did not participate in the expert preliminary counseling using.Results:From 2012 to 2019, the proportion of funded applicants in the expert preliminary counselling group was 30.45%, and the overall funding rate was 18.51%. Under the same research basis, the funding rate of the group was 29.91%, which was significantly higher than the group did not participate in the expert preliminary counselling (funding rare: 13.59%, P<0.001). Conclusions:We should pay more attention to and participate actively in the expert preliminary counselling, which can increase the quality of the projects and improve their funding rate significantly.

Challenges and countermeasures on the translation of scientific research achievements of public hospitals in China / 中华医院管理杂志

Public hospitals play an important role in independent innovation of basic medicine and clinical medicine. As key players in translation of medical research achievements, they play a pivotal role in promoting the development of medical sciences. At present, these hospitals however, are faced with challenges in the translation, namely system defects, unclear property rights ownership, misleading research project goals, defective assessment mechanism, insufficient funding, and lack of translation channels. In such considerations, the authors suggested based on their experiences to improve the translation system of scientific research achievements, set up special departments for translation, clarify the rights to use and dispose of scientific research achievements and that to yields. They also proposed to actively guide the establishment of clinical application projects, improve the evaluation mechanism, and broaden channels of funding. These measures are expected to accelerate the translation of scientific research achievements.

Clinical application of real-time fluorescence quantitative PCR for the detection of fecal tumor M2-pyruvate kinase in colorectal cancer patients / 国际检验医学杂志

Objective To investigate the application valve of real-time fluorescence quantitative polymerase chain reaction(RT-PCR) for the detection of tumor M2-pyruvate kinase(tM2-PK) DNA in patients with colorectal cancer(CRC).Methods Fragment of tM2-PK DNA(162 bp) was amplified and inserted into PGM-T vector to construct recombinant plasmid,which was used to develop RT-PCR method.Sensitivity,specificity and repeatability of RT-PCR for the detection of tM2-PK were analyzed.From Jan.2014 to Jun.2016,200 CRC patients and 100 healthy subjects were enrolled and detected for fecal and serum tM2-PK DNA by using RT-PCR,and the detected results were compared with those detected by using enzyme linked immunosorbent assay(ELISA).Results Recombinant plasmid was successfully constructed,which was certified by sequencing.The sensitivity of RT-PCR for the detection of tM2-PK DNA was 10 copy/mL,with high specificity and 0.3%-2.9% of coefficient of variation.In patients,the positive rate of fecal tM2-PK DNA,detected by RT-PCR,was 92.50%,and that of ELISA to detect tM2-PK was 80.00%.Fecal and serum levels of tM2-PK were correlated with the pathologic stages of tumour.Conclusion Self-established RT-PCR could be specificity and sensitivity for the detection of fecal tM2-PK,which could be used for the early diagnosis of CRC.

Clinical Observation of 2 Kinds of Glucocorticoid Administration Regimens for Elderly Patients with AE-COPD / 中国药房

OBJECTIVE:To investigate the effects and safety of 2 kinds of glucocorticoid administration regimens including 5 d and 15 d on clinical efficacy,pulmonary function,quality of life in elderly patients with acute exacerbation of chronic obstructive pulmonary disease(AECOPD). METHODS:A total of 160 elderly patients with AECOPD selected from Haikou Forth People's Hos-pital during May 2013-Dec. 2015 were divided into group A and B according to lottery method,with 80 cases in each group. Both groups received symptomatic treatment as eliminating phlegm and relieving asthma,controlling infection,etc. Based on it,group A was given Methylprednisolone sodium succinate for injection,40 mg/d for 15 d;group B was given Methylprednisolone sodium succinate for injection,40 mg/d for 5 d. Clinical efficacies were compared between 2 groups as well as the levels of pulmonary ven-tilation function indexes,blood gas analysis indexes,Spitzer life quality index scale (QLI) scores before and after treatment. The occurrence of ADR was also compared between 2 groups. RESULTS:Total response rate of group A was 92.50%,and that of group B was 90.00%,without statistical significance(P>0.05). Before treatment,there was no statistical significance in the levels of pulmonary ventilation function indexes,blood gas analysis indexes,QLI scores between 2 groups (P>0.05). After treatment, FVC,FEV1,FEV1% and PaO2 of 2 groups were significantly higher than before treatment,while PaCO2 was significantly lower than before treatment,with statistical significance (P0.05). QLI scores of 2 groups were significantly higher than before treatment,and the group B was significantly higher than the group A, with statistical significance (P<0.05). The incidence of ADR in group B (6.25%) was significantly lower than group A (22.50%),with statistical significance(P<0.05). CONCLUSIONS:Glucocorticoid administration regimen including 5 d and 15 d in the treatment of elderly patients with AECOPD possess the same effects in improving lung function;glucocorticoid administra-tion regimen for 5 d application is superior in effectively improving the quality of life of patients,reducing the risk of ADR,and has clinical value.

Effects of Different Doses of Budesonide Combined with Ipratropium Bromide on Rational Symptom, Lung Function and Arterial Blood Gas Indexes of AECOPD Patients / 中国药房

OBJECTIVE:To investigate the safety and effects of different doses of budesonide combined with ipratropium bro-mide on rational symptom,lung function and arterial blood gas indexes of patients with acute exacerbation of chronic obstructive pulmonary diseases (AECOPD). METHODS:186 AECOPD inpatients were selected and randomly divided into low-dose,medi-um-dose and high-dose groups,with 61 cases in each group. All groups received routine treatment as ipratropium bromide 500 μg+0.9%Sodium chloride injection(NS)2 ml,oral inhalation with oxygen drive atomization nebulizer,oxygen flow rate of 4-5 L/min, 15-20 min/time,tid. Low-dose,medium-dose and high-dose group were additionally given Budesonide suspension 0.5,1.0,2.0 mg+NS 2 ml respectively,oral inhalation with oxygen drive atomization nebulizer,oxygen flow rate of 4-5 L/min 20 min/time,bid. Pa-tients in 3 groups were treated for 7 days. Pulmonary function,MRC score,arterial blood gas indexes and ADR were compared among 3 groups before treatment,3 and 7 days after treatment. RESULTS:FEV1% of 3 groups were significantly improved after treatment;3 and 7 days after treatment,FEV1% of high-dose group was higher than that of medium-dose and higher than that of low-dose group,with statistical significance(P0.05). After treatment,there was statistical significance in PaCO2 and PaO2 among 3 groups (P<0.05),and the improvement of high-dose group was better than those of medium-dose and better than that of low-dose group,with statistical significance(P<0.05). No severe ADR was found in 3 groups. CONCLU-SIONS:Aerosol inhalation of 2.0 mg budesonide combined with ipratropium bromide can effectively improve pulmonary function, rational symptoms and arterial blood gas indexes with good safety.

Application of quantum dots immune fluorescent labelling in colorectal cancer tissues / 国际检验医学杂志

Objective To investigate different antigens detected by a novel labelled reagent‐quantum dots(QDs) in the colorectal cancer tissues microarray(TMA) .Methods Depend on QDs streptavidin conjugate(QDs‐SA) combined specially with biotinylation IgG ,immune of luorescent histochemistry was utilized to examine expression of K‐ras ,matrix‐remodeling associated 5(MXRA5) proteins in the colorectal cancer TMA ,where the protein accurate location was observed .Results K‐ras ,matrix‐remodeling associ‐ated 5(MXRA5) proteins were high expressed in colorectal cancer tissue and located accurately in the cell membrane and nucleus of colorectal cancer cells ,respectively .Conclusion QDs exhibit excellent photostability ,broad emission spectrum and long fluorescence lifetime .Modified with streptavidin could accurately detect different protein locations in the colorectal cancer TMA .This is a novel approach for studying targeted imaging of colorectal cancer in vivo and vitro clinical diagnosis .

Selective application of type Ⅰ and type Ⅱ bundled pancreaticojejunostomy / 中华胰腺病杂志

Objective To analyze and summarize the efficacy and the experience in the application of type Ⅰ and type Ⅱ bundled pancreaticojejunostomy in pancreaticoduodenectomy. Methods Between Jan.2005 and Dec. 2009, a total of 38 patients who underwent bundled pancreaticojejunostomy was enrolled, and their clinical data were retrospectively analyzed. 20 patients received type Ⅰ bundled pancreaticojejunostomy and 18 patients received type Ⅱ bundled pancreaticojejunostomy. The operative time, postoperative hospital stay, mortality and complications were compared. Results The operative time of type Ⅰ bundled pancreaticojejunostomy was (91 ± 20) min, and it was (63 ± 21) min in type Ⅱ procedure, and the difference was statistically significant (P ＜ 0. 05). The mortality and complications, postoperative hospital stay were 10.0%(2/20), 45.0% (9/20) and (20 ±2)d in type Ⅰ procedure, while they were 5.6% (1/18),38.9% (7/18) and(23 ±2)d in type Ⅱ procedure, and the difference was not statistically significant.Conclusions There was no significant difference in the effects between type Ⅰ and type Ⅱ bundled pancreaticojejunostomy. Carefully selective application of type Ⅰ and type Ⅱ bundled pancreaticojejunostomy helps complete these procedures.

Progress on B7H1/PD-1 pathway in tumors / 国际外科学杂志

B7H1 is a recently described B7 family member.Ligation of PD-1 receptors with B7hl on the surface of activated T cell inhibits T cell proliferation and cytokine production. B7H1 plays a negative regulatory role in peripheral tolerance, autoimmune diseases and chronic infections.B7H1 also has been found to be largely expressed on a broad range of cancers and is thought to contribute to immune evasion by cancers. Blockade of B7H1/PD-1 pathway may contribute to the treatment of autoimmune diseases and maligant tumors.

Application of stress and complaisance distention of bile ducts to construct wide caliber local biliary tract in dogs / 中华肝胆外科杂志

Objective To study the feasibility and morphological characteristics of wide caliber of local biliary tract constructed by increasing pressure of local bile duct in a short period of time.Methods Twelve mongrel dogs were randomized into 2 groups.In group A,only inlaid bile duct dilator(IBDD)was placed for biliary drainage in common bile duct.In group B,IBDD was placed in tommort bile duct for biliary drainage and dilated it through affusing 0.1 ml,0.1 5 ml,0.2 ml and 0.25 ml water on postoperative day 1,8,15 and 22,respectively.The expandable ballbladders were kept on being dilated with increasing pressure for a month.Total bilirubin(TB),alanine aminotransferase (ALT),aspartate aminotransferase;aspartate transaminase(AST)of serum,bile duct diameter (BDD),histologic changes of biliary duct wall and hepatic tissue,and postoperative biliary tract contrast were determined before and after operation in both groups.Results There was no significant difference in TB,ALT,AST and histologic changes of hepatic tissue in bilary predilation and postdilation of each group and between group A and group B.There was great difference in BDD in bilary predilation and postdilation of each group and between group A and group B.In group B,the biliary wall was thickened and the lumina of bile duct widened,favorable tenacity of broaden biliary tract was shown.The specific staining of the broadened biliary wall showed that collagen and elastic fibers compacted fine and close and there was no breakage.Conclusion Dilated local bile duct constructed by increasing internal pressure of local bile duct has thick wall,wide caliber and its collagen and elastic fibers compact fine and close.This provides condition to supply early-stage cholangio-jejunostomotic reconstruction of bile duct iniury and create wide stoma for cholangio-jejunostomy in dogs.

Treatment outcome of multiple digital replantation / 中华显微外科杂志

Objective To summarize the methods of multiple digital replantation in different stages and improve the survival rate of replanted digits Methods In the procedure of replantation for fingertip one artery and one vein were anastomosoed, or one atrery was anastomosed accompanied with pulling out the nail and cutting small incision For middle of digit one artery and one vein were anastomosed For the proximal digit the ratio of anastomose for arteries and veins was 1 to 2 or 2 to 2 Superficial vein from arm or artery from the other finger was used if defection of vessel occur Results One hundred and twenty nine digits survived among the 142 replanted digits from 58 cases (survival rate was 90 8%),among which 113 fingers from 46 cases were subjected to following up form 3 months to 3 years, the rate of excellent and good was 85 8% Conclusion It takes more time and higher techniques to replant multiple digits To improve the survival rate, it is important to anastomose vessel excellently, deal with the defection of vessel correctly, and treat postoperative vessel crisis properly In addition, training exercise plays an important role in fnnctional recovery