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1.
Chinese Journal of Medical Genetics ; (6): 280-283, 2012.
Article in Chinese | WPRIM | ID: wpr-295494

ABSTRACT

<p><b>OBJECTIVE</b>To analyze potential mutation of keration 9 gene (KRT9) in a Chinese family affected with epidermolytic palmoplantar keratoderma (EPPK) and to correlate genotype with the phenotype.</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples of 12 patients and 13 healthy individuals from the family and 100 unrelated individuals. Polymerase chain reaction (PCR) was used to amplify exons 1 and 6 of KRT9 gene. PCR products were sequenced bidirectionally in order to identify potential mutations.</p><p><b>RESULTS</b>A heterozygous transversional mutation, 488G→A, was identified in exon 1 of KRT9 gene in all patients, which has resulted in substitution of a glutamine residue for arginine acid at position 163 (R163Q) of the KRT9 protein. The same mutation was not found in the 13 healthy members from the family and 100 unrelated individuals.</p><p><b>CONCLUSION</b>The 488G→A mutation of KRT9 gene is probably the cause of EPPK in this Chinese family.</p>


Subject(s)
Adult , Female , Humans , Male , Base Sequence , DNA Mutational Analysis , Methods , Keratin-9 , Genetics , Keratoderma, Palmoplantar, Epidermolytic , Genetics , Molecular Sequence Data , Mutation
2.
Chinese Journal of Preventive Medicine ; (12): 934-939, 2011.
Article in Chinese | WPRIM | ID: wpr-266068

ABSTRACT

<p><b>OBJECTIVE</b>To analyze time trend and regional disparities in maternal mortality ratio (MMR) and major causes of maternal death in China from 1996 to 2010.</p><p><b>METHODS</b>Data used in this study were based on national maternal mortality surveillance system. From 1996 to 2005, it included 176 monitoring districts (countries) in 31 provinces, autonomous regions and municipalities in the inner land. From 2006 to the present, it covered 336 districts (countries). MMR, major causes of maternal death and their reduction margin, average annual reduction rate in different times and regions from 1996 to 2010 were analyzed. The trend and regional differences in MMRs and major causes of mortality were analyzed using Cochran-Armitage trend and Poisson Test.</p><p><b>RESULTS</b>From 1996 to 2010, Chinese MMR has decreased by 53.2% from 64.7 in 1996 to 30.0 per 100 000 live births in 2010. MMR was higher in rural areas (30.1/100 000) than in urban areas (29.7/100 000), and highest in the west region (46.1/100 000) followed by the middle region (29.1/100 000) and the east region (17.8/100 000) in 2010. MMR in east, middle and west regions have decreased by 37.76%, 57.02% and 66.27% respectively from 1996 to 2010. The disparities between different regions were decreasing. From 2006 to 2010, MMR in rural areas has dropped to 1.82 times of the city, and that in the west was 3 times of the east. Obstetric hemorrhage was still the leading cause of maternal death, responsible for 47.9% maternal deaths in 1996 and 27.8% in 2010. The risk of death due to obstetric hemorrhage was decreasing.</p><p><b>CONCLUSION</b>The MMR in China showed the decreasing trends. Although the regional disparities were still remarkable, they demonstrated narrowing trends. Interventions on maternal death should be focused in rural areas and west regions.</p>


Subject(s)
Female , Humans , Pregnancy , China , Maternal Mortality , Population Surveillance , Pregnancy Complications , Mortality
3.
Chinese Journal of Epidemiology ; (12): 257-260, 2009.
Article in Chinese | WPRIM | ID: wpr-266557

ABSTRACT

Objective To analyzes the characteristics, the trend and the leading causes of maternal deaths in China between 2000 and 2005. Methods Data under analysis were those from a population-based epidemiological survey conducted by the national maternal mortality surveillance network which covered a total population of about 80 000 000 in China. Results Maternal mortality ratio (MMR) was both higher in the counn-yside than that in the city and in the remote area than that in the inland and in the coastal region. From 2000 to 2005, the overall MMR in China dropped from 53.0/100 000 livebirths to 47.6/100 000 livebirths, from 67.2/100 000 iivebirths to 59.2/100 000 livebirths in rural area, from 28.8/100 000 livebirths to 27.6/100 000 livebirths in urban area. The descending ranges of maternal mortality were 10.2%, 11.9%, 4.2%, respectively. The top three leading causes of maternal deaths in China were obstetric hemorrhage, pregnancy induced hypertension and amniotic fluid embolism in 2000, but minor changes in the ranking of top three leading causes: hemorrhage, cardiac disorders and pregnancy induced hypertension in 2005. The main causes led to hemorrhage were retention of placenta, uterine inertia and rupture of uterine. Conclusion MMR in China appeared a trend less change during 2000-2005. The number one cause of maternal deaths was obstetric hemorrhage. Reducing MMR in rural area and improving the skill of treating obstetrie hemorrhage were essential to achieve the goal of reducing maternal death in the Outline of Chinese Women's Development (2000-2010).

4.
Chinese Journal of Endemiology ; (6): 341-343, 2008.
Article in Chinese | WPRIM | ID: wpr-642667

ABSTRACT

Objective To separate and amplify Hantaan virus(HV)in serum of hemorrhagic fever patients with renal syndrome(HFRS)in Heilongjiang,and look for its difference from intemational standard type strain(76-118strains).Methods HVs of different phase in the 8erum of 50 HFRS patients were separated and amplified by RTnested-PCR,its products were analyzed the amplified by sequencing.Results Detectable rate of HV in the patients serum was 36.36%(8/22)in 7 days after onset,it Was 13.04%(3/23)in patients having an onset 8 days to 14 days earlier,5 cases were not detectable 15 days after onset.Comparing the sequence of HV S gene fragment,sample 1,9,18,31,37,38,44 strain had a homology of 90.24%,86.72%,89.97%,89.16%,86.45%,87.26%and 89.43%to 76-118 strains,respectively.Conclusions The positive rate is the highset in 7 days after onset.Nucleotide sequence difference exists between pathogenic strain of Heilongjiang's HV and international standard strain,indicating that not only hosts but also locations can affect HV.

5.
Chinese Journal of Epidemiology ; (12): 746-748, 2007.
Article in Chinese | WPRIM | ID: wpr-294246

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the factors related to maternal mortality rate in 1000 counties of projects on reducing maternal mortality rate (MMR) and eliminating tetanus neonates in China, 2003.</p><p><b>METHODS</b>Study on the association was performed using data on average income per capita, hospital delivery rate and MMR.</p><p><b>RESULTS</b>Data showed that income per capita and hospital delivery rate had strong association with MMR. MMR for women with income less than 1000 Chinese Yuan per capita was 100.9 per 100 000 live births, and with income over 2000 Yuan per capita was 61.8 per 100 000 live births. MMR was 107.2 per 100 000 live births for women with hospital delivery rate less than 50%, and 54.1 per 100 000 live births with hospital delivery rate over 75%. The hospital delivery rate was less than 50% in the counties with income less than 1000 Yuan per capita, and over 75% with income over 2000 Yuan per capita. Only 19.1% of the counties with income less than 1000 Yuan per capita and 66.7% over 2000 Yuan per capita reached 75% hospital delivery rate.</p><p><b>CONCLUSION</b>MMR and hospital delivery rate were affected by economic level of individuals. MMR seemed inversely proportional to income per capita and hospital delivery rate. The hospital delivery rate in 1000 counties was closely associated with income per capita. MMR could be reduced by enhancing hospital delivery rate.</p>


Subject(s)
Female , Humans , Pregnancy , China , Epidemiology , Delivery, Obstetric , Income , Maternal Health Services , Maternal Mortality , Pregnancy Complications , Mortality , Socioeconomic Factors
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