1.Genetic mutation screening of glucose-6-phosphate dehydrogenase deficiency in Dongguan district.
Ying ZHAO ; Jingfan WU ; Jianqun LI ; Xun YU ; Youqing FU ; Yanhui LIU ; Aijuan XU
Chinese Journal of Medical Genetics 2018;35(6):840-843
OBJECTIVE:
To determine the incidence and genotypes of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Dongguan region of Guangdong Province and assess the efficacy and feasibility of flow-through hybridization.
METHODS:
Peripheral blood samples were randomly selected and detected by modified G6PD/6PGD ratio method. Flow-through hybridization was used to detect 14 G6PD mutations among all samples.
RESULTS:
In total 1005 samples were collected, the detection rate for modified G6PD/6PGD ratio method and flow-through hybridization were 2.79% and 20.90%, respectively. The consistency of the two methods was poor(Kappa=0.187). When c.1311C>T mutation is excluded, the consistency of the two methods was good for males (Kappa=0.952) but still poor for females (Kappa=0.194). The most common mutations were c.1376G>T, c.1388G>A and c.95A>G. No G6PD deficiency was found among those only carrying the c.1311C>T mutation.
CONCLUSION
Flow-through hybridization can simultaneously detect 14 loci, covering over 90% of common mutations in Chinese population, and can be easily expanded. The routine method may miss many females carrying homozygous, compound heterozygous and heterozygous mutations, but the detection rate for male hemizygous mutation was much higher.
China
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DNA Mutational Analysis
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Female
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Genetic Testing
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Genotype
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Glucosephosphate Dehydrogenase
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genetics
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Glucosephosphate Dehydrogenase Deficiency
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diagnosis
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Humans
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Male
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Mutation
2.Screening status of warning signs for mental and behavioral development and influencing factors of infants and young children in poverty eliminated regions of Henan province
Shuaiqi LI ; Sheju CHEN ; Shuaibing WANG ; Dong WANG ; Linbin JIA ; Weijia ZHAO ; Jingfan XU ; Jing WANG ; Wei CHEN
Chinese Journal of Pediatrics 2024;62(10):969-974
Objectives:To investigate the screening status of warning signs for mental and behavioral development (WS) and influencing factors of infants and young children (IYC) in poverty eliminated regions of Henan Province.Methods:This study was a cross-sectional study. A total of 15 680 IYC aged 6-23 months from 51 poverty eliminated counties in Henan province from June to September of 2023 were selected through a multi-stage random sampling method. IYC′s early warning signs were screened using the WS checklist (WSC). Children′s socio-demographic characteristics, maternal information, birth status, and illness conditions such as fever and diarrhea within 2 weeks were measured through a uniformly designed questionnaire. All participants also received the measurement of height, weight, and hemoglobin concentration level. Logistic regression model was used to explore the influencing factors of positive WSC and conducted sensitivity analyses.Results:Among the sample of 15 680 IYC, there were 8 462 boys (53.97%) and 7 218 girls (49.03%), with their age of (15±5) months. A total of 291 (1.86%) IYC were positive in WSC. Parenting risk ( OR=5.07, 95% CI 3.93-6.52, P<0.001) and preterm birth ( OR=1.63, 95% CI 1.06-2.52, P=0.027) were both positively associated with the odds of WSC′s positivity. Being girls ( OR=0.66, 95% CI 0.52-0.85, P=0.001), age (12-17 months, OR=0.47, 95% CI 0.35-0.62, P<0.001; 18-23 months, OR=0.40, 95% CI 0.30-0.54, P<0.001), and maternal educational level (junior high school, OR=0.46, 95% CI 0.32-0.66, P<0.001; senior high school or vocational high school, OR=0.35, 95% CI 0.23-0.56, P<0.001; college and above, OR=0.36, 95% CI 0.23-0.57, P<0.001) were all negatively associated with the risk of WSC′s positivity. Sensitivity analyses demonstrated that, after excluding anemic children, the association between preterm birth and WSC′s positivity was not significant ( OR=1.54, 95% CI 0.95-2.49, P=0.081). Despite this situation, being girls, age and maternal educational level were still negatively associated with the odds of WSC′s positivity (all P<0.05); preterm birth, parenting risk were remained positive associated with the risk of WSC′s positivity (all P<0.05) either by excluding children with protein-energy malnutrition or 2-week morbidity, or using prevalence ratio instead of OR. Conclusions:Among the IYC in poverty eliminated regions of Henan Province, the risk of positivity of WSC was higher for those IYC with parenting risk, preterm birth, boys, younger age, and lower maternal education level. These influencing factors, such as gender, age, preterm birth, parenting risk and maternal educational level, were in certain stability across different IYC characteristics and estimation models.
3.Study on Repairing Effect of Kangfuxin Liquid on Cartilage Defect of Knee Osteoarthritis Model Rabbits and Its Mechanisms
Tao WANG ; Ying GUO ; Hong YIN ; Xiaoxia TANG ; Jianglong LIAO ; Wenze HUANG ; Yanfei XU ; Yuanliang AI ; Jinlei LI ; Hui WEN ; Jingfan YANG
China Pharmacy 2019;30(2):197-201
OBJECTIVE: To investigate the effects of Kangfuxin liquid on repairing cartilage defect model of knee osteoarthritis (KOA) in rabbits and its mechanism. METHODS: Totally 72 male New Zealand rabbits were selected and randomly divided into model control group and Kangfuxin low-dose, medium-dose, high-dose groups, with 18 rabbits in each group. A cartilage defect model of the medial femoral condyle of the right knee joint in rabbits was established by drilling after anesthesia surgery. Then the rabbits in each group were given medicine via articular cavity immediately. Kangfuxin low-dose, middle-dose and high-dose groups were given 20%, 40%, 80% Kangfuxin liquid; model control group was given constant volume of normal saline consecutively, 0.2 mL/kg, once every 3 days. At 4th, 8th, 12th week after medication, the wound repair of cartilage defect in rabbits was observed. Immediately after medication and at 4th, 8th, 12th week after medication, repaired tissue of cartilage defect in rabbits was scored histologically with Wakitani scoring standard under light microscope. At 12th week after medication, pathological changes of repaired tissue of cartilage defect in rabbits were observed by Masson staining. The levels of NO, SOD and LPO in joint fluid and PYD in urine of rabbits were detected by ELISA. RESULTS: At 4th, 8th, 12th week after medication, compared with model control group, cartilage defects in rabbits were repaired well in Kangfuxin low-dose, medium-dose and high-dose groups. At 4th, 8th, 12th week after medication, compared with immediately after medication and model control group at same time point, histomorphological score of repairing cartilage defect of knee joint in rabbits decreased significantly in Kangfuxin low-dose, medium-dose and high-dose groups (P<0.05). At 12th week after medication, compared with model control group, the histopathology degree of cartilage defect of knee joint in rabbits was significantly alleviated in Kangfuxin low-dose, medium-dose and high-dose groups. At 4th, 8th, 12th week after medication, compared with model control group, the levels of NO and LPO in joint fluid and PYD level in urine were decreased to different extent in Kangfuxin low-dose, medium-dose and high-dose groups, while SOD level was increased to different extent; at 12th week after medication, the difference of each index has statistical significance (P<0.05 or P<0.01). CONCLUSIONS: Kangangxin liquid can significantly repair cartilage defect of KOA cartilage defect model rabbits, the mechanism of which may be associated with increasing the expression of SOD and mediating NO-inhibited chondrocyte apoptosis.
4.Application of the “virtual-real combination” experimental teaching model in Human Parasitology teaching: a case study of comprehensive schistosome experiments
Xiaojun CHEN ; Sha ZHOU ; Jingfan QIU ; Lin CHEN ; Zhipeng XU ; Minjun JI ; Jing GUO ; Rong ZHANG
Chinese Journal of Schistosomiasis Control 2023;35(2):180-183
Information technology has become an important driver to facilitate higher education developments in the context of new medical sciences. A new “virtual-real combination” experimental teaching model was designed and created through integrating information technology with experimental teaching by Experimental Teaching Center of Basic Medical Sciences and Department of Pathogen Biology, Nanjing Medical University and was applied in Human Parasitology teaching, which achieved satisfactory teaching effectiveness. This new model showed effective to deepen the understanding of the basic human parasitology knowledge, improve the operative skills, and cultivate the moral literacy and comprehensive capability among medical students. This report presents the teaching protocols and implementation, teaching effectiveness and evaluation, and experiences of comprehensive schistosome experiments.