1.Study of the clinical and laboratory features of hand-foot-mouth disease
Ying-Xia LIU ; Jing-Jing XIE ; Yan-Xia HE ; Wei-Long LIU ; Ming-Xia ZHANG ; Xiao-Hua LE ; Dan FU ; Xin-Chun CHEN ; Gui-Lin YANG ; De-Zhi CAO ; Hong-Mei ZHANG ; Liu-Me XU ; Xiu-Yun ZHU ; Yon TAN ; Qian-Ting YANG ; Bo-Ping ZHOU
Chinese Journal of Experimental and Clinical Virology 2008;22(6):475-477
Objective To study the clinical and laboratory features of the mild and severe hand-foot-mouth diseases (HFMD) in Shenzhen in 2008.Methods 145 cases were observed in East-Lake Hospital and Shenzhen Children's Hospital. Of the 145 cases,124 mild eases and 21 severe cases were involved. All the clinical data and Laboratory findings were collected and summarized. After collection of the acute and convalescent consecutive stools and peripheral bloods from the patients with HFMD,EV71 genes were amplified from these samples by RT-PCR. Enterovirus 71 were cultured and isolated using Veto cell line and R&D cell line. Results The WBC counts and blood glucose levels of the severe cases were significantly elevated,but the ages of the severe ones significantly decreased compared with those of the mild cases( P < 0.05). EV71 genes could be detected by RT-PCR with 35% positive rate in mild cases and 67% in severe eases.The EV71 gene detection rate of the severe cases was significantly increased in contrast to that of the mild ones. The EV71 were isolated and cultured from the stools of 9 patients,one specimens from the dead's stool. Two severe cases died of neurngenic pulmonary edema and brain-stem encephalitis. Conclusions EV71 mainly contributes to HFMD and is responsible for death of some severe cases. High fever,less rash,elevated white blood cell counts and blood glucose concentrations as well as age less than 4 years old should be used for prediction of severe cases.
2.Genetic Mutation Characteristics of Glucose-6-Phosphate Dehydrogenase Deficiency Patients in Wuhan.
Hui LI ; Yu-Fei JIANG ; Tang-Xin-Zi GAO ; Me-Qi YI ; Xiao-Yan WANG ; Run-Hong XU ; Jie-Ping SONG ; Li-Jun LIU
Journal of Experimental Hematology 2022;30(1):244-249
OBJECTIVE:
To explore the genotype mutation characteristics of patients with glucose-6-phosphate dehydrogenase(G6PD) deficiency in Wuhan.
METHODS:
A total of 1 321 neonates with positive screening and outpatients were received G6PD mutation detection, 12 kinds of common G6PD mutation in Chinese people was detected by using multicolor melting curve analysis (MMCA) method, for those with negative results, the enzyme activity and clinical information were analyzed, sequencing was recommended after informed consent when it is necessary.
RESULTS:
Among 1321 patients, a total of 768 mutations were detected out, with a detection rate of 58.1%. A total of 18 types of G6PD genotypes were identified, including c.1388G>A, c.1376G>T, c.95G>A, c.1024C>T, c.871G>A, c.392G>T, c.487G>A, c.1360C>T, c.1004C>A, c.517T>C, c.592C>T, c.94C>G, c.152C>T, c.320A>G, c.1028A>G, c.1316G>A, c.1327G>C and c.1376G>C, including 683 male hemizygotes, 3 female homozygotes, 80 female heterozygotes and 2 female compound heterozygous.
CONCLUSION
A total of 18 types of G6PD mutations are identified in the reaserch, and c.94C>G, c.1028A>G and c.1327G>C are first reported in Chinese population. The most common G6PD mutation types in Wuhan are c.1388G>A, c.1376G>T, c.95G>A.
Asians/genetics*
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Female
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Genotype
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Glucosephosphate Dehydrogenase/genetics*
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Glucosephosphate Dehydrogenase Deficiency/genetics*
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Heterozygote
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Humans
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Infant, Newborn
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Male
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Mutation