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Objective@#To investigate the prevalence of glucose-6-posphate dehydrogenase (G6PD) deficiency and its gene mutations among neonates in Hainan Province.@*Methods@#The G6PD activity of dried blood spots of 914 520 neonates born from 2007 to 2016 was screened by fluorescence spot test in Hainan Province. The G6PD/6-glucose phosphate dehydrogenase (6GPD) ratio method was used to confirm the diagnosis of suspected specimens, and 3 012 of year 2016 dried blood spots of neonates with G6PD deficiency were genotyped using the multicolor probe-based fluorescence melting curve analysis.@*Results@#From 2007 to 2016, 36 314 positive cases were screened in 914 520 neonates. A total of 26 370 cases of G6PD deficiency were diagnosed with an incidence rate of 2.88%(26 370/914 520) in Hainan Province. The incidences of G6PD deficiency were 2.80%(21 688/774 555) in ethnic Han population, 3.45% (4 292/124 419) in ethnic Li population, 3.31%(212/6 401) in ethnic Miao population and 1.95%(178/9 145) in other ethnic groups. There were significant differences in the incidence of G6PD deficiency in ethnic Han population and ethnic Li population(χ2=161.261, P=0.000), ethnic Miao population(χ2=6.104, P=0.013) and other ethnic groups(χ2=24.283, P=0.000). A total of 13 mutation types were detected by gene detection in 3 012 confirmed cases of G6PD deficiency, of which c.1376 G>T, c.1388 G>A, c.95 A>G and c.1024 C>T mutations and related combinations accounted for approximately 91.74%. Two mutations outside 16 genotypes, c.86 C>T and c.1311 C>T, were found by gene sequencing.@*Conclusions@#The incidence of G6PD deficiency among newborns in Hainan Province is high, and there are ethnic and regional differences. The dominant genetic mutations in Hainan Province are c.1376 G>T, c.1388 G>A, c.95 A>G and c.1024 C>T.
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Objective:To investigate the prevalence of glucose-6-posphate dehydrogenase (G6PD) deficiency and its gene mutations among neonates in Hainan Province.Methods:The G6PD activity of dried blood spots of 914 520 neonates born from 2007 to 2016 was screened by fluorescence spot test in Hainan Province. The G6PD/6-glucose phosphate dehydrogenase (6GPD) ratio method was used to confirm the diagnosis of suspected specimens, and 3 012 of year 2016 dried blood spots of neonates with G6PD deficiency were genotyped using the multicolor probe-based fluorescence melting curve analysis.Results:From 2007 to 2016, 36 314 positive cases were screened in 914 520 neonates. A total of 26 370 cases of G6PD deficiency were diagnosed with an incidence rate of 2.88%(26 370/914 520) in Hainan Province. The incidences of G6PD deficiency were 2.80%(21 688/774 555) in ethnic Han population, 3.45% (4 292/124 419) in ethnic Li population, 3.31%(212/6 401) in ethnic Miao population and 1.95%(178/9 145) in other ethnic groups. There were significant differences in the incidence of G6PD deficiency in ethnic Han population and ethnic Li population(χ 2=161.261, P=0.000), ethnic Miao population(χ 2=6.104, P=0.013) and other ethnic groups(χ 2=24.283, P=0.000). A total of 13 mutation types were detected by gene detection in 3 012 confirmed cases of G6PD deficiency, of which c.1376 G>T, c.1388 G>A, c.95 A>G and c.1024 C>T mutations and related combinations accounted for approximately 91.74%. Two mutations outside 16 genotypes, c.86 C>T and c.1311 C>T, were found by gene sequencing. Conclusions:The incidence of G6PD deficiency among newborns in Hainan Province is high, and there are ethnic and regional differences. The dominant genetic mutations in Hainan Province are c.1376 G>T, c.1388 G>A, c.95 A>G and c.1024 C>T.
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Objective@#To investigate the prevalence of glucose-6-phosphate dehydrogenase (G6PD) gene mutation in newborns of Hainan Province, and to provide reference for prevention and treatment of G6PD deficiency in this region.@*Methods@#Neonatal disease screening filter paper dry blood spots from all midwifery agencies were collected in 18 cities (counties) in Hainan Province from January to June 2016, G6PD activity screening test was conducted at Neonatal Disease Screening Center, Hainan Women and Children's Medical Center, and the enzyme activity was normal when fluorescence value > 1 600, and enzyme deficiency when fluorescence value ≤1 600. Referred to "China's Major Birth Defects and Genetic Diseases Survey and Biological Resources Collection", women newborns (3 371 cases) with fluorescence values ≤2 200 and men newborns (1 620 cases) with fluorescence values ≤1 700 were included in the study. Molecular screening was performed using multicolor melting curve analysis (MMCA), and the distribution and mutation characteristics of G6PD gene mutants were analyzed.@*Results@#Among the 4 991 newborns, 2 111 cases with G6PD gene mutation, and the detection rate was 42.30% (2 111/4 991). A total of 27 G6PD gene mutants were found, including 14 single mutants and 13 composite mutants. The mutation detection rates of c.1376 G>T (21.42%, 1 069/4 991), c.1388 G>A (11.54%, 576/4 991), c.95 A>G (2.40%, 120/4 991) and c.871 G>A (2.24%, 112/4 991) were higher. The mutation detection rate (61.54%, 136/221) of Baisha County (inland area) was the highest, and the mutation detection rate (22.15%, 64/289) of Wenchang City (coastal area) was the lowest. The mutation detection rate (49.88%, 628/1 259) of the Li nationality was the highest. A total of 873 female heterozygotes were detected, including 13 gene mutants, of which 44.67% (390/873) with normal enzyme activity. The c.86 C>T heterozygous mutation was first detected in a sample of Li female with normal enzyme activity.@*Conclusions@#Hainan Province is the high incidence area of G6PD gene mutation, the most common mutations are c.1376 G>T, c.1388 G>A, c.95 A>G and c.871 G>A in newborns. Inland area is the high incidence area, and Li nationality is the high incidence population.
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Objective To investigate the prevalence of glucose-6-phosphate dehydrogenase (G6PD) gene mutation in newborns of Hainan Province,and to provide reference for prevention and treatment of G6PD deficiency in this region.Methods Neonatal disease screening filter paper dry blood spots from all midwifery agencies were collected in 18 cities (counties) in Hainan Province from January to June 2016,G6PD activity screening test was conducted at Neonatal Disease Screening Center,Hainan Women and Children's Medical Center,and the enzyme activity was normal when fluorescence value ＞ 1 600,and enzyme deficiency when fluorescence value ≤ 1 600.Referred to "China's Major Birth Defects and Genetic Diseases Survey and Biological Resources Collection",women newborns (3 371 cases) with fluorescence values ≤2 200 and men newborns (1 620 cases) with fluorescence values ≤ 1 700 were included in the study.Molecular screening was performed using multicolor melting curve analysis (MMCA),and the distribution and mutation characteristics of G6PD gene mutants were analyzed.Results Among the 4 991 newborns,2 111 cases with G6PD gene mutation,and the detection rate was 42.30％ (2 111/4 991).A total of 27 G6PD gene mutants were found,including 14 single mutants and 13 composite mutants.The mutation detection rates of c.1376 G＞T (21.42％,1 069/4 991),c.1388 G＞A (11.54％,576/4 991),c.95 A＞G (2.40％,120/4 991) and c.871 G＞A (2.24％,112/4 991) were higher.The mutation detection rate (61.54％,136/221) of Baisha County (inland area) was the highest,and the mutation detection rate (22.15％,64/289) of Wenchang City (coastal area) was the lowest.The mutation detection rate (49.88％,628/1 259) of the Li nationality was the highest.A total of 873 female heterozygotes were detected,including 13 gene mutants,of which 44.67％ (390/873) with normal enzyme activity.The c.86 C＞T heterozygous mutation was first detected in a sample of Li female with normal enzyme activity.Conclusions Hainan Province is the high incidence area of G6PD gene mutation,the most common mutations are c.1376 G＞T,c.1388 G＞A,c.95 A＞G and c.871 G＞A in newborns.Inland area is the high incidence area,and Li nationality is the high incidence population.
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Objective To summarize the experience in nursing patients with gut leak after liver transplantation. Methods Two patients with recurrent gut leakafter liver transplantation underwent surgical repair. The nursing measures included strict observation of postoperative disease, observation of drainage fluid and abdominal signs, early nutritional support, good psychological nursing and health education. Results Gut leak occurred in the two cases again after liver transplantation.One case was treated with repair again and the other with end-stage ileotomy and ileostomy. The patients were discharged after medication and nursing care. Conclusions The close postoperative observation of the disease, observation of drainage fluid and abdominal signs can prompt the discovery of intestinal re-perforation.The early nutritional support plays an important role in the rehabilitation of patients with gut leak after liver transplantation.Mental care and health education can enhance patient's confidence in treatment.