1.Discussion on the standard of clinical genetic testing report and the consensus of gene testing industry.
Hui HUANG ; pengzhiyu@bgi.com. ; Yiping SHEN ; Weihong GU ; Wei WANG ; Yiming WANG ; Ming QI ; Jun SHEN ; Zhengqing QIU ; Shihui YU ; Zaiwei ZHOU ; Baixue CHEN ; Lei CHEN ; Yundi CHEN ; Huanhuan CUI ; Juan DU ; Yong GAO ; Yiran GUO ; Chanjuan HU ; Liang HU ; Yi HUANG ; Peipei LI ; Xiaorong LI ; Xiurong LI ; Yaping LIU ; Jie LU ; Duan MA ; Yongyi MA ; Mei PENG ; Fang SONG ; Hongye SUN ; Liang WANG ; Dawei WANG ; Jingmin WANG ; Ling WANG ; Zhengyuan WANG ; Zhinong WANG ; Jihong WU ; Jing WU ; Jian WU ; Yimin XU ; Hong YAO ; Dongsheng YANG ; Xu YANG ; Yanling YANG ; Ying ZHANG ; Yulin ZHOU ; Baosheng ZHU ; Sicong ZENG ; Zhiyu PENG ; Shangzhi HUANG
Chinese Journal of Medical Genetics 2018;35(1):1-8
The widespread application of next generation sequencing (NGS) in clinical settings has enabled testing, diagnosis, treatment and prevention of genetic diseases. However, many issues have arisen in the meanwhile. One of the most pressing issues is the lack of standards for reporting genetic test results across different service providers. The First Forum on Standards and Specifications for Clinical Genetic Testing was held to address the issue in Shenzhen, China, on October 28, 2017. Participants, including geneticists, clinicians, and representatives of genetic testing service providers, discussed problems of clinical genetic testing services across in China and shared opinions on principles, challenges, and standards for reporting clinical genetic test results. Here we summarize expert opinions presented at the seminar and report the consensus, which will serve as a basis for the development of standards and guidelines for reporting of clinical genetic testing results, in order to promote the standardization and regulation of genetic testing services in China.
2.Characteristics and Impact Factors of Renal Threshold for Glucose Excretion in Patients with Type 2 Diabetes Mellitus.
Xiao Dan YUE ; Jing Yu WANG ; Xin Rong ZHANG ; Ju Hong YANG ; Chun Yan SHAN ; Miao Yan ZHENG ; Hui Zhu REN ; Yi ZHANG ; Shao Hua YANG ; Zhen Hong GUO ; Bai CHANG ; Bao Cheng CHANG
Journal of Korean Medical Science 2017;32(4):621-627
Sodium glucose co-transporter 2 (SGLT-2) inhibitors are newly developed but promising medicine for type 2 diabetes. However, patients with a different renal threshold for glucose excretion (RT(G)) may have a different reaction to this medicine. Therefore, the objective of this study was to investigate the characteristics of RT(G) and its impact factors in patients with type 2 diabetes mellitus (T2DM). The clinical and laboratory data of 36 healthy individuals and 168 in-hospital patients with T2DM were collected and analyzed, RTG was calculated using blood glucose (BG) measured by dynamic BG monitoring, urinary glucose excretion (UGE) and estimated glomerular filtration rate (eGFR). The characteristics of RT(G) were investigated. The risk factors for high RT(G) were analyzed using non-conditional logistic regression analysis. Our results found that RT(G) of the T2DM group was higher than that of the healthy individuals (P < 0.05); and 22.22% from the healthy individuals group but 58.33% from the T2DM group had high RT(G). Age, duration of diabetes, body mass index (BMI), and homeostasis model assessment insulin resistance index (HOMA-IR) were independently associated with high RT(G) (P < 0.05). Further stratified analysis revealed that RT(G) in T2DM patients increased with age, duration of diabetes, and BMI. In conclusion, RT(G) is increased in patients with T2DM, especially in those with longer diabetic duration, higher BMI, and those who are older. Therefore, these patients may be more sensitive to SGLT-2 inhibitors.
3.Factors Influencing the Quality of Standardized Treatment for Patients with Post-Cardiac Arrest Syndrome.
Jing LU ; Lijun LIU ; Jianliang ZHU ; Xinying GUO
Korean Circulation Journal 2017;47(4):455-461
BACKGROUND AND OBJECTIVES: For the present study, we investigated the factors that influence the quality of standardized treatment for patients with post-cardiac arrest syndrome (PCAS) to improve the quality of PCAS treatment. SUBJECTS AND METHODS: We collected data on patients with cardiac arrest (CA) who were admitted to the intensive care units (ICUs) of 11 hospitals-Class II Grade A or above-in Suzhou from January to October 2013. Indexes of standardized treatment were observed within 72 hrs of CA. We analyzed monitoring techniques, monitoring frequency, ICU human and material resources, and intensivists' knowledge of PCAS treatment to explore how those factors affected the management of patients with PCAS. RESULTS: The bed/nurse ratio and the frequency with which core temperature was recorded correlated closely with the implementation of therapeutic hypothermia (TH) within 6 hrs of CA. The bed/doctor ratio and intensivists' knowledge about PCAS correlated closely with high-quality blood glucose control within 6 hrs of CA. Furthermore, the frequency with which core temperature was recorded was an independent factor influencing the quality of TH implementation, and the number times blood gas was analyzed was an independent factor influencing how well partial pressure of carbon dioxide was kept within the normal range in the 6 hrs after CA. CONCLUSION: The frequency of core temperature measurements and the number of times blood gas is analyzed are the most important factors influencing the quality of standardized treatment for patients with PCAS.
Blood Glucose
;
Carbon Dioxide
;
Heart Arrest
;
Humans
;
Hypothermia, Induced
;
Intensive Care Units
;
Partial Pressure
;
Passive Cutaneous Anaphylaxis
;
Reference Values
4.Potential Vaccine Targets against Rabbit Coccidiosis by Immunoproteomic Analysis.
Hongyan SONG ; Ronglian DONG ; Baofeng QIU ; Jin JING ; Shunxing ZHU ; Chun LIU ; Yingmei JIANG ; Liucheng WU ; Shengcun WANG ; Jin MIAO ; Yixiang SHAO
The Korean Journal of Parasitology 2017;55(1):15-20
The aim of this study was to identify antigens for a vaccine or drug target to control rabbit coccidiosis. A combination of 2-dimensional electrophoresis, immunoblotting, and mass spectrometric analysis were used to identify novel antigens from the sporozoites of Eimeria stiedae. Protein spots were recognized by the sera of New Zealand rabbits infected artificially with E. stiedae. The proteins were characterized by matrix-assisted laser desorption ionization time of flight mass spectrometry (MALDI-TOF/TOF-MS) analysis in combination with bioinformatics. Approximately 868 protein spots were detected by silver-staining, and a total of 41 immunoreactive protein spots were recognized by anti-E. stiedae sera. Finally, 23 protein spots were successfully identified. The proteins such as heat shock protein 70 and aspartyl protease may have potential as immunodiagnostic or vaccine antigens. The immunoreactive proteins were found to possess a wide range of biological functions. This study is the first to report the proteins recognized by sera of infected rabbits with E. stiedae, which might be helpful in identifying potential targets for vaccine development to control rabbit coccidiosis.
Coccidiosis*
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Computational Biology
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Eimeria
;
Electrophoresis
;
HSP70 Heat-Shock Proteins
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Immunoblotting
;
Mass Spectrometry
;
Rabbits
;
Sporozoites
5.Expert consensus on the design and implementation of clinical safety centralized monitoring study of Chinese medical injection.
Jun-Hua ZHANG ; Jing-Tian REN ; Jing-Qing HU ; Yan-Ming XIE ; Hai-Bo SONG ; Ming-Jun ZHU ; Rui GAO ; Zhong WANG ; Wen-Ke ZHENG ; Xue-Lin LI ; Meng JIANG ; Yu-Hong HUANG ; Fang LU ; Li-Yun HE ; Wei-Xiong LIAN ; Zhong-Qi YANG ; Wei-An YUAN ; Si-Yuan HU ; Bao-He WANG ; Wei-Liang WANG ; De-Quan REN ; Bo-Li ZHANG ; null ; null
China Journal of Chinese Materia Medica 2017;42(1):6-9
Along with the increase of clinical application, the safety of traditional Chinese medicine gained more and more attentions. In particular, the safety evaluation of Chinese medical injections has become a mandatory task should be completed by pharmaceutical companies under the supervision of China Food and Drug Administration(CFDA). Due to the weak foundation of previous studies, the safety issues of Chinese medical injections have not been fully understood, and lack of scientific and rational risk management programs. Clinical safety centralized monitoring(CSCM) is an important method for post-market safety evaluation of Chinese medicine. Due to the lack of appropriate norms and procedures, the quality of similar research is uneven, and the results vary. Combined with practical experience with experts' suggestions, we developed this expert consensus on the design and implementation of CSCM from three stages (design, implementation and report) with 20 technical points, which will provide technical support for future CSCM studies.
7.Analysis of treatment efficacy for congenital hypothyroidism in some regions of Yunnan Province, China.
Jing-Hui YANG ; Jing-Hui ZHANG ; Yin-Hong ZHANG ; Xiao-Zhi XU ; Hong CHEN ; Yuan LI ; Yan JIANG ; Zheng WANG ; Bao-Sheng ZHU ; Li LI
Chinese Journal of Contemporary Pediatrics 2017;19(7):741-747
OBJECTIVETo observe the effects of initial doses and treatment timing of levothyroxine (L-T4) on the clinical efficacy in children with congenital hypothyroidism (CH).
METHODSThis study included 98 children who had an abnormal level of thyroid stimulating hormone (TSH) in neonatal screening in four regions of Yunnan Province and who finally had a confirmed diagnosis of CH. They received treatment with L-T4 and were divided into standard dose group (10-15 μg/kg per day) and low dose group (<10 μg/kg per day) by the therapeutic dose of L-T4. Meanwhile, these patients were also classified into two treatment groups based on the starting time of L-T4 treatment, namely under 2 months old group and more than 2 months old group. The thyroid function and physical and neural development were examined before and after treatment.
RESULTSCompared with the low dose group, the standard dose group had a significantly lower TSH level and a significantly higher free thyroxine (FT4) level at 2 weeks after treatment (P<0.05). There were no significant differences in TSH and FT4 levels at other time points after treatment between the standard and low dose groups (P>0.05). The physical and neural development were not significantly different between the two dose groups before and at all time points after treatment (P>0.05). At all time points after treatment, the levels of TSH and FT4 and physical development were not significantly different between the different starting time groups (P>0.05). However, the Gesell score was significantly higher in the under 2 months old group than in the more than 2 months old group at all time points after treatment (P<0.05).
CONCLUSIONSThe standard dose group has a better treatment outcome than the low dose group, whereas the symptoms of hyperthyroidism deserve close attention. The treatment timing is vital to the neurodevelopment of children with CH. Once diagnosed, the patients should receive treatments immediately.
Child Development ; Congenital Hypothyroidism ; drug therapy ; physiopathology ; Female ; Humans ; Infant, Newborn ; Male ; Nervous System ; growth & development ; Thyrotropin ; blood ; Thyroxine ; blood ; Treatment Outcome
8.Confrontation as a Mediator between Sense of Coherence and Self-management Behaviors among Elderly Patients with Coronary Heart Disease in North China.
Zhenyun LI ; Ting LIU ; Jing HAN ; Ting LI ; Qina ZHU ; Aimin WANG
Asian Nursing Research 2017;11(3):201-206
PURPOSE: Self-management is critical to improve health outcomes of elderly patients with coronary heart disease (CHD). Sense of coherence (SOC) is found to be linked with self-management behaviors. However, their deeper relationship is not clear. The purposes of this study were to investigate the association between SOC and self-management behaviors among elderly CHD patients in China, and whether confrontation mediates this association. METHODS: A cross-sectional design was used. A total of 275 elderly patients with CHD recruited from the cardiology department in a general hospital in North China were surveyed from October 2015 to April 2016. SOC, confrontation, and self-management behaviors were measured using the Chinese version of the SOC scale, subscale of Medical Coping Modes Questionnair—Confrontation, and the CHD self-management scale, respectively. Correlation analysis and path analysis were conducted to analyze the data. RESULTS: The mean (±standard deviation) scores of SOC, confrontation, and self-management behaviors were 62.20 (±9.61), 19.55 (±3.15), and 76.17 (±10.63), respectively. Correlation analysis showed that SOC, confrontation, and self-management behaviors were significantly correlated with each other. Path analysis indicated that SOC exerted a direct effect on self-management behaviors, whereas could affect self-management indirectly via confrontation. Bootstrap test result showed that confrontation played a mediating role (β = .20, p < .001) in the relationship between SOC and self-management behaviors. CONCLUSION: SOC was related to self-management behaviors, whereas confrontation mediated the effect of SOC on self-management behaviors. In practice, the role of confrontation coping should be valued when developing strategies to strengthen SOC and to improve self-management practice among elderly CHD patients.
Aged*
;
Asian Continental Ancestry Group
;
Cardiology
;
China*
;
Coronary Disease*
;
Hospitals, General
;
Humans
;
Negotiating
;
Self Care*
;
Sense of Coherence*
9.Comparison of Laboratory Indexes and Therapeutic Efficacy between Two Kinds of Different RBC Transfusion in AIHA Patients.
Jing-Jing GAO ; Xiong-Peng ZHU ; Ming-Quan WANG
Journal of Experimental Hematology 2017;25(3):921-925
OBJECTIVETo investigate the effect of 2 kinds of red blood cells (RBC) on the laboratorial indexes and therapeutic efficacy of patients with autoimmune hemolytic anemia (AIHA).
METHODSThe clinical data of 120 patients with AIHA from June 2015 to June 2016 were analyzed retrospectively. These 120 patients were divided into A goup and B group. The patients in A group (60 cases) were infused with washed RBC, while the patients in B group (60 cases) were infused with WBC-deplated RBC. The changes of laboratotial indexes, clinical symptoms and incidence of adverse reactions in 2 groups before treatment and at 24 hourse after treatment as well as the therapeutic efficacy and improvement status of clinical symptoms were compared.
RESULTSThe RBC count and Hb level in 2 groups after treating for 1 day were significantly higher than those before treatment (P<0.01), while the TBIL level and reticulocyte (Ret) count were significantly lower than those before treatment (P<0.01). However, the RBC, Hb, TBIL levels and Ret count in 2 groups before and after treatment showed no statistical difference (P>0.05); the improvement of clinical symptoms, complex therapeutic efficacy and incidence of adverse reactions in 2 groups after treatment also showed no significantly difference (P>0.05).
CONCLUSIONBoth washed and leukocyte-deplated RBC can alleviate the anemia in patients with AIHA in short-time, but the leucocyte-deplated RBC is more expensive, suggesting that the wased RBC is more practical for treatment of AIHA patients.
10.Three-dimensional morphology of C6/36 cells infected by dengue virus: a study based on digital holographic microscopy.
Jian-Hai YU ; Xu-Ling LIU ; Yu-Jing LIU ; Xiao-En HE ; Yuan HUI ; Bao ZHANG ; Li ZHU ; Wei ZHAO
Journal of Southern Medical University 2017;37(3):301-307
OBJECTIVETo monitor the 3-dimensional (3D) morphological changes of C6/36 cells during dengue virus (DENV) infection using a live-cell imaging technique based on digital holographic microscopy and provide clues for better understanding the mechanisms of DENV infection.
METHODSC6/36 cells were seeded in 6-well plates to determine the optimal imaging density under a holographic cell imager, and the morphological changes of the cells were recorded in response to a culture temperature change from 28 degrees celsius; to 37 degrees celsius; C6/36 cells were infected with 4 DENV strains with different serotypes at 28 degrees celsius; and incubated at 37 degrees celsius; for 24 h, and the 3D holograms and relevant morphological parameters were recorded at different time points using HoloMonitor M4 holographic cell imaging and analysis system.
RESULTSThe holograms of C6/36 cells inoculated at the optimal density for imaging (4×10per well) showed unified 3D morphologies of the single cells with minimal dispersions in the cell area, thickness and volume (P<0.05), which did not undergo obvious changes when the cells were incubated at 37 degrees celsius; for 24 h (P>0.05). The cell area and volume of the cells infected with the 4 DENV strains all increased and the cell thickness was reduced during incubation. Among the 4 strains, DENV-1 and DENV-2 caused reduced cell thickness while DENV-3 and DENV-4 increased the cell thickness, and the pattern and degree of such changes differ among the 4 strains.
CONCLUSIONSDigital holographic microscopy allows monitoring of the complex morphological changes of cells during DENV infection. The 4 DENV strains with different serotypes causes characteristic cell damages during infection.

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