Practice of standardized training of clinical medical genetics / 中华医学教育探索杂志

In 2014, the training of clinical medical genetics was included in the training sequence of resident standardized training in China. The standardized training of clinical geneticist in China started relatively late. As a whole, the training and qualification system of clinical hereditary physicians are still in the process of development and perfection. Based on "Rules for the training of department of medical genetics", basic medical genetics resident training system was established in Henan Provincial People's Hospital. Additionally, we took advantage of interactive online education platform, multiple disciplinary team, the analysis of positive case report, literature report and other teaching practices combined with the tutor system. After 4 years of exploration and practice, the program can quickly improve the residents' comprehensive ability, such as theoretical knowledge, professional literacy, clinical practice skills, and scientific research ability.

Immunotherapy Strategies for Neuromyelitis Optica Spectrum Disorder / 中国康复理论与实践

@#This paper assembled immunotherapy methods for neuromyelitis optica spectrum disorder (NMOSD) in recent years, including the treatment of acute stage, the prevention of relapse and the potential immunotherapy. The treatment of acute stage is mainly to inhibit inflammatory response and reduce aquaporin 4 (AQP4) antibody(Ab) titer, and this is done mainly by using high-dose hormone shock therapy and plasmapheresis. Remission treatment is to inhibit the proliferation of T cells and B cells and also remove B cells from the body, for the purpose of reducing the number of relapses. Azathioprine, rituximab and mycophenolate mofetil are mainly given during remission stage. The treatment of NMOSD will become more targeted/specific in the future. The mechanism of action of the new drug is mainly through blocking the binding of pathogenic AQP4-Ab and its antigen (Ag), reducing the generation of pathogenic AQP4-Ab, and blocking the downstream reaction after pathogenic Ab-Ag binding. The new drugs mainly include aquaporumab, tocilizumab, DNA vaccine, anti-CD19 monoclonal Ab (MEDI-551), eculizumab and bevacizumab.

Study of recurrent loci of cerebral infarctions / 实用医学杂志

Objective To research the location in cerebral circulations of recurrent stroke.Methods We included patients with acute cerebral infarction from the Department of Neurology of People's Hospital of Peking University within three years.We followed up the patients by telephone and electronic medical record to determine whether they belong to recurrent group or not.We recorded the clinical and image variables of recurrent group.We classified the recurrent group by whether the loci of recurrent stroke is in the same circulation.We determined the independent risk factors of the same circulation loci by Cox regression.Results There are 106 cases of recurrent stroke.Within 5 years,46.2％ of the cases had recurrent loci in the same circulation as first stroke loci.53.8％ of the cases had recurrent loci in the different circulation from first stroke loci.According to logistic regression,whether the recurrent loci was in the same circulation was not related to age,sex,hypertension,diabetes mellitus,smoking,but related to the survival time.The shorter the survival time was the more ratio of same circulation loci happened.The longer the survival time was the more ratio of different circulation loci happened.37％ of cases with recurrent strokes happened in the first year occupied the most cases in the 5 years.Conclusions With the long time study of the location of recurrent stroke,we get the conclusion that the longer the survival time is the more ratio of different circulation stroke happen.So we emphasize the importance of medicine for the stroke in long time.At the same time we conclude the rationality of endovascular treatments within 1 year from first stroke because recurrent loci is more often in the same circulation in 1 year.

A glioma grading method based on radiomics / 中华放射学杂志

Objective To explore the classification of gliomas according to the theory and method of radiomics. Methods In this study, 161 pathologically confirmed glioma patients were retrospectively selected from 2012 to 2016 including 52 low-grade gliomas and 109 high-grade gliomas.Three hundred and forty-six quantization features were extracted from the MRI images, including shape, density, texture and wavelet imaging features. Mutual information and logistic regression model were used to select feature reduction and prediction model. The predictive ability of the model was validated using 10-fold cross-validation. Results Nineteen radiomics features were chosen from 346 quantization features. The sensitivity of the model was 96.3% (105/109), the specificity was 78.8% (41/52), the area under the curve (AUC) was 0.952 7, and the accuracy was 90.7%(146/161). Conclusion The solution proposed in this paper showed that radiomics can non-invasively and quickly provide an adjunct to the clinical grade of glioma with high accuracy.

Mammogram texture analysis in prediction of axillary lymph node metastasis for breast carcinoma / 中国医学影像技术

Objective To explore the value of mammogram texture analysis in prediction of metastasis of axillary lymph nodes for breast carcinoma.Methods Mammograms and clinical data of 171 patients with breast carcinoma confirmed by pathology were retrospectively analyzed,and all patients underwent axillary lymph node dissection (ALND).Then the patients were divided into axillary lymph node metastasis group and non-metastasis group according to the result of ALND.The texture features of these lesions were statistically analyzed,including gray-level histogram texture parameters (mean value,standard deviation,skewness,kurtosis and variance) and gray-level co-occurrence matrix texture parameters (energy,entropy,correlation,inertia,inverse difference moment and contrast).Results In all of 171 breast cancer patients,96patients had axillary lymph node metastasis,while 75 patients had no metastasis.Mammograms showed negative axillary lymph nodes in 119 patients and positive axillary lymph nodes in 52 patients,and the sensitivity and specificity of mammograms in the diagnosis of positive axillary lymph nodes was 48.96％ (47/96) and 93.33％ (70/75),respectively.Mammogram texture analysis showed the values of energy,entropy,inverse difference moment and correlation in axillary lymph node metastasis group were higher than those in non-metastasis group,while the values of inertia and contrast in the axillary lymph node metastasis group were lower than those in non-metastasis group (all P＜0.05).The rest texture parameters had no significant differences between two groups (all P＞0.05).Area under curve (AUC) for texture parameters of energy,entropy,inertia,inverse difference moment,correlation and contrast was 0.610,0.610,0.374,0.599,0.612 and 0.421 (all P＜0.05),respectively.AUC of mammography,mammogram texture features,and the combination of mammography and texture features was 0.711,0.676 and 0.787 (all P＜0.05),respectively.The sensitivity and specificity of mammogram texture features,the combination of mammography and texture features in diagnosis of axillary lymph nodes metastasis was 62.5％ and 64.6％,66.7％ and 82.7％,respectively.Conclusion Mammogram texture parameters are helpful for predicting axillary lymph node metastasis,and the combination of mammography and texture features can improve diagnostic efficiency of axillary lymph node metastasis.

A study of therapeutic efficacy of mycophenolate mofetil in the treatment of multiple sclerosis ;and neuromyelitis optica / 中国医师进修杂志

Objective To assess the efficiency and safety of mycophenolate mofetil (MMF) in patients with multiple sclerosis (MS) and neuromyelitis optica (NMO). Methods Twenty-seven patients with MS or NMO were selected, and the patients were divided into 2 groups:MMF group (MMF combined with glucocorticoid treatment group, 10 cases) and glucocorticoid group (only glucocorticoid treatment group, 17 cases). There were 5 cases with MS and 5 cases with NMO in MMF group. There were 13 cases with MS and 4 cases with NMO in glucocorticoid group. The therapeutic efficacy 6 months after treatment, expanded disability status scale (EDSS) before treatment and 6 months after treatment, and annualized relapse rate (ARR) were compared; and the safety was observed. Results There was no statistical difference in efficacy rate 6 months after treatment between MMF group and glucocorticoid group: 9/10 vs. 11/17, P>0.05. The EDSS scores 6 months after treatment in MMF group and glucocorticoid group were significantly lower than those before treatment: (2.41 ± 2.05) scores vs. (3.40 ± 2.05) scores and (1.17 ± 0.92) scores vs. (2.38 ± 1.28) scores, and there were statistical differences (P<0.05), particularly for the patients with MS. The ARR 6 months after treatment in MMF group was significantly lower than that before treatment: 0 time/year vs. 0.75 times/year, and there was statistical difference (P<0.05). The difference of ARR before and after treatment in MMF group was significantly higher than that in glucocorticoid group: 0.75 times/year vs.- 0.46 times/year, and there was statistical difference (P<0.01), particularly for the patients with MS. Only 1 female patient had myalgia when taking higher dosage of MMF, and the symptom tended to relieve after the dosage was reduced. Conclusions MMF is effective in the treatment of MS and NMO. MS can improve the neurological function and reduce the recurrence of the disease;and the safety is high.

Expression and activity identification of recombinant human stanniocalcin 1 / 军事医学

Objective To obtain recombinant human stanniocalcin 1 ( STC1 ) with biological activity in Escheri.coli cells expression.Methods The gene was cloned into pET32b( +) vector by fused with thioredoxin and His tag .E.coli BL21(DE3) competent cells were transfomed by the recombinant vector .After renaturation, the fusion protein was digested with thrombin and intact STC1 protein was purified from the digested protein using Ni ion affinity chromatography .Recombi-nant humanSTC1 protein was confirmed by Western blot analysis using goat anti-STC1 antibody.The biological activity of STC1 in rat was assayed using standard method for assessment of renal function .Results The recombinant human STC 1 fu-sion protein is successfully expressed in Escherichia coli, the fusion protein was purified by affinity chromatography from the inclusion body and renaturated .Intact hSTC1 protein was released by thrombin digestion and purified by Ni ion affinity col-umn.The intact STC1 proteins was confirmed by Western blot analysis .Rat bioassay revealed that STC1 boosted phosphate reabsorption.Conclusion Recombinant STC1 protein was successfully expressed and has native biological activities .This protein could be used as an antigen for the preparation of monoclonal antibody against humanSTC 1.

Diagnostic criteria for multiple sclerosis: a comparison of the Poser and the McDonald criteria / 中华神经科杂志

Objective To compare the Poser and the McDonald diagnostic criteria for multiple sclerosis (MS).Methods Sixty-seven patients with clinical features suggestive of MS were re-evaluated by 2 neurologists utilizing both the Poser and the McDonald criteria.The Fisher' s exact test was used to statistically analyze the data from assessment by these two criteria.Results By the Poser criteria, 34 patients were classified as clinically definite MS, 24 patients as laboratory supported definite MS and 9 patients as possible MS.Under the new McDonald criteria, MS was diagnosed in 36 patients and 31 patients had possible MS.The results revealed significant differences in diagnosing MS between these 2 criteria (OR=5.549, 95% CI 2.37-13.00, P<0.01).Conclusions These 2 criteria showed remarkable differences in diagnosing MS, in particular definite MS, possibly due to greater reliance on paraclinical evidences in the Poser criteria and more stringent gnidlines of magnetic resonance imaging (MRI) in the McDonald criteria.The analysis of cerebrospinal fluid may increase the diagnostic rate of MS and specify pathologic abnormalities in MRI to some degree.

Advance in Research of Immunogenetics of Multiple Sclerosis(review) / 中国康复理论与实践

@#The etiology and occurred mechanism of multiple sclerosis are remain unclear. The authors review the advance in research of heredity epidemiology, molecular biology, genomic screen and heredity factors of multiple sclerosis.

Clinical Features of Opticospinal Multiple Sclerosis:19 Cases Report / 中国康复理论与实践

@#ObjectiveTo investigate the clinical features of 19 patients with opticospinal multiple sclerosis(OSMS).Methods19 cases with OSMS according to Kira Criteria were collected(15 women).Their clinical features were analyzed in combination with the laboratory examination.Results and ConclusionThere was no significant difference in the aspects of age of onset,disease duration,initial symptoms,MRI finding,evoked potential,immunological test of cerebrospinal fluid(CSF),between literatures reported elsewhere and ours. However,in our study,the OSMS patients did not show CSF pleocytosis associated with a decreased protein levels.The proportion of OSMS in all the types of MS seemed to be lower(18.66%).

Reinforcement on construction and management of software and hardware in laboratory for better utilization of large-scale instruments / 医疗卫生装备

Besides good teaching and researching personnel and research basis,such factors as large-scale instruments and good lab software and hardware construction are very important for colleges and universities to cultivate advanced person with ability as well as take high-level scientific achievements.

Detections of interleukin-2,-4,-10 and interferon-? secreting cells in myasthenic thymus and peripheral blood / 中华神经科杂志

Objective To study the immune function of the subpopulation of T helper lymphocyte(Th), including Th1 and Th2 cells in myasthenic thymus and peripheral blood (PB).Methods Enzyme-linked immunospot (ELISPOT) method is adopted to detect the acetylcholine receptor (AChR)-reactive interleukin-2(IL-2)-, interleukin-4 (IL-4)-, interleukin-10 (IL-10)-, interferon-gamma(IFN-?)-secreting cell numbers in thymus and peripheral blood (PB). Results The AChR-reactive IL-2-,IL-4-,IL-10-, IFN-?-secreting cell numbers were increased in thymus as well as the AChR-reactive IL-10-, IFN-?-secreting cell numbers in PB. There is a positive correlation between thymus and PB in MG for the AChR-reactive IL-4-, IL-10-secreting cell numbers. After treatment, the AChR-reactive IL-2-,IL-4-, IFN-?-secreting cell numbers were decreased in PB, while there were 1 case and 2 cases showing a decrease and an increase in AChR-reactive IL-10-secreting cell number, respectively.Conclusions The immune dysfunction of the Th1 and Th2 subpopulation existed in the thymus and PB of MG, and the AChR-reactive IL-4-, IL-10-secreting cell numbers might be served as parameters to evaluate the degree of the immune dysfunction in the MG thymus. The role of the IL-10 in pathogenesis of MG needs further study.

Study on memory T cell subsets in peripheral blood of patients with multiple sclerosis / 中国免疫学杂志

Objective:To explored the mechanisms that lead to the changes of the memory T cell subsets.Methods:By using of flow cytometry and enzyme-linked immunosorbent assay(ELISA), we detected the percentage of memory T cell subsets and plasma concentration of interleukin-15(IL-15) in peripheral blood of MS patients and healthy individuals. Furthermore, MS patients were subdivided into both relapse-remission MS(RRMS) and chronic progressive MS(CPMS) group according to the clinical features.Results:Compared to healthy controls, there was an increase and decrease in CD8~+T_ CM and terminal effector memory CD8~+T cell in MS patients(P

The expression of 4-1BB and GITR on CD4~+CD25~(high) T cells in peripheral blood of patients with multiple sclerosis / 中国免疫学杂志

0.05).Conclusion:The decrease in 4-1BB expression,rather than the GITR expression,on CD4+CD25high T cells of MS patients suggests that 4-1BB may be involved in the lower immunoactivity of the cell population,while the GITR may play a minor or fine role in the immunoregulation of the cells.