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Objective To identify the spatial distribution pattern of Oncomelania hupensis spread in Hubei Province, so as to provide insights into precision O. hupensis snail control in the province. Methods Data pertaining to emerging and reemerging snails were collected from Hubei Province from 2020 to 2022 to build a spatial database of O. hupensis snail spread. The spatial clustering of O. hupensis snail spread was identified using global and local spatial autocorrelation analyses, and the hot spots of snail spread were identified using kernel density estimation. In addition, the correlation between environments with snail spread and the distance from the Yangtze River was evaluated using nearest-neighbor analysis and Spearman correlation analysis. Results O. hupensis snail spread mainly occurred along the Yangtze River and Jianghan Plain in Hubei Province from 2020 to 2022, with a total spread area of 4 320.63 hm2, including 1 230.77 hm2 emerging snail habitats and 3 089.87 hm2 reemerging snail habitats. Global spatial autocorrelation analysis showed spatial autocorrelation in the O. hupensis snail spread in Hubei Province in 2020 and 2021, appearing a spatial clustering pattern (Moran’s I = 0.003 593 and 0.060 973, both P values < 0.05), and the mean density of spread snails showed spatial aggregation in Hubei Province in 2020 (Moran’s I = 0.512 856, P < 0.05). Local spatial autocorrelation analysis showed that the high-high clustering areas of spread snails were mainly distributed in 50 settings of 10 counties (districts) in Hubei Province from 2020 to 2022, and the high-high clustering areas of the mean density of spread snails were predominantly found in 219 snail habitats in four counties of Jiangling, Honghu, Yangxin and Gong’an. Kernel density estimation showed that there were high-, secondary high- and medium-density hot spots in snail spread areas in Hubei Province from 2020 to 2022, which were distributed in Jingzhou District, Wuxue District, Honghu County and Huangzhou District, respectively. There were high- and medium-density hot spots in the mean density of spread snails, which were located in Jiangling County, Honghu County and Yangxin County, respectively. In addition, the snail spread areas negatively correlated with the distance from the Yangtze River (r = −0.108 9, P < 0.05). Conclusions There was spatial clustering of O. hupensis snail spread in Hubei Province from 2020 to 2022. The monitoring and control of O. hupensis snails require to be reinforced in the clustering areas, notably in inner embankments to prevent reemerging schistosomiasis.
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The general epidemic characteristics of seven key human parasitic diseases in Hubei Province, including schistosomiasis, malaria, filariasis, kala-azar (visceral leishmaniasis), soil-transmitted helminth infection, food-borne parasitic diseases, and echinococcosis, is reviewed in order to analyze the current epidemic situation and trend. At present, the epidemic of parasitic diseases has dropped to the lowest level in history in Hubei Province, but there still exists high risk of infections in some local areas. Along with the deepening of global economic integration and the implementation of the strategy of "the Belt and Road", and the expanding of dietary spectrum for human pursuing diversified material and cultural life, we are facing the transmission risk from imported parasitic diseases and rare parasitic diseases. Current monitoring efforts have been weakened due to the decline in work supporting measures. There will be potential risks of local outbreaks if an epidemic is not effectively controlled in time. It is recommended to maintain the multi-sectoral cooperation mechanism under the leadership of the government, further improve capacity building to ensure a capable and stable professional team for the prevention and control of parasitic diseases, and to increase the monitoring of parasitic diseases during the "14th Five-Year Plan" period, so as to consolidate the achievements of parasitic disease prevention and control and promote the health of people in Hubei Province.
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OBJECTIVE@#To detect chromosomal aberrations in two fetuses with multiple malformation.@*METHODS@#The two fetuses were subjected to chromosomal microarray analysis (CMA) by using Affymetrix CytoScan 750K arrays. The results were analyzed by bioinformatic software.@*RESULTS@#CMA analysis suggested that both fetuses harbored pathogenic copy number variations (CNVs) in the 2p15-16.1 region, which ranged from 255 kb to 257 kb and encompassed the XPO1 and USP34 genes.@*CONCLUSION@#Deletion of the chr2 (61 659 957-61 733 075, hg19) encompassing the XPO1 and USP34 genes may underlie the multiple malformations in the two fetuses.
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OBJECTIVE@#To study the influence of maternal sex chromosomal abnormalities on the prediction of fetal sex chromosome abnormalities (SCAs) by non-invasive prenatal testing (NIPT).@*METHODS@#Thirty-six pregnant women with a prediction for fetal SCAs by NIPT were verified as false positive after prenatal diagnosis using amniotic fluid samples. With informed consent, these women were subjected to chromosomal karyotyping or copy number variations (CNVs) analysis through high-throughput sequencing.@*RESULTS@#Sex chromosomal abnormalities were found in 8 women, which yielded an abnormal rate of 22.22% (8/36). Among these, 3 had sex chromosome aneuploidies (47, XXX), 4 had sex chromosome mosaicisms, and 1 carried structural chromosomal abnormalities. Reanalysis of the results of NIPT were consistent with the maternal CNVs by large. With the ratio of cffDNA (ChrX)/cffDNA was more than 2, 6 of the eight women were found to harbor sex chromosome abnormalities, and the fetal karyotype was normal. However, with a ratio of less than 2, only 2 of the 38 pregnant women had sex chromosome abnormalities, and 10 of the fetuses were confirmed as positive.@*CONCLUSION@#The presence of maternal sex chromosomal abnormalities can greatly influence the result of NIPT, which may also be an important reason for false prediction for fetal SCAs by NIPT. When NIPT indicates abnormal SCAs, it is necessary to analyze maternal sex chromosomes. The ratio of cffDNA(ChrX)/cffDNA may help to determine the source of abnormal signals.
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OBJECTIVE@#To carried out prenatal diagnosis and genetic analysis for a case with Nail-patella syndrome.@*METHODS@#Based on the clinical phenotype and prenatal imaging, genetic testing and prenatal diagnosis were carried out through whole exome sequencing (WES) and Sanger sequencing.@*RESULTS@#Analysis of amniotic fluid showed that the fetus has carried a heterozygous c.139+1G>T splicing site variant [Chr9(GRCh37): g.129376868G>T] of the LMX1B gene, which was verified by Sanger sequencing. The same heterozygous variant was found in the pregnant woman, her daughter and her mother but not in her husband. Searching of HGMD database showed that the c.139+1G>T was previously unreported.@*CONCLUSION@#Nail-patella syndrome is an autosomal dominant genetic disorder with various clinical manifestations. WES is helpful for its genetic and prenatal diagnosis.
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Female , Humans , Pregnancy , Heterozygote , Mutation , Nail-Patella Syndrome/genetics , Pedigree , Prenatal Diagnosis , Exome SequencingABSTRACT
We systematically analyzed the progress on basic research in fetal medicine in China funded by National Natural Science Foundation of China since 1987.Aiming to promote basic research in fetal medicine,a series of effective measures has been implemented by National Natural Science Foundation of China in recent years,such as defining specific research goals and keywords under the application code of fetal medicine,launching emergent management projects and organizing strategic discussion with experts.Despite the wide gap between domestic and foreign researches,we have some advantages and have already made great achievements.Here are some suggestions on future basic research in fetal medicine from the perspective of funding application in China.
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OBJECTIVE To assess the performance of non-invasive prenatal testing (NIPT) based on massive parallel sequencing. METHODS A total of 10 275 maternal blood samples were collected. Fetal chromosomal aneuploides were subjected to low coverage whole genome sequencing. Patients with high risks received further prenatal diagnosis. The outcome of all patients were followed up. RESULTS High-throughput sequencing detected 72 pregnancies with fetal autosomal chromosomal aneuploidy, including 57 cases of trisomy 21, 14 cases of trisomy 18, and 1 case of trisomy 13. The positive predictive value for trisomies 21 and 18 were 98.25% and 91.67%, respectively. Comparing its performance in intermediate or high risk pregnancies, advanced maternal age pregnancies and volunteering to test pregnancies, the positive predictive value were 100%, 95%, 90% and 50%, respectively. The follow up result was only 1 case of 21 trisomy false negative with high risk. For the 56 cases of trisomy 21, the high risk group accounted for 55%, advanced maternal age accounted for 29%, the intermediate risk referred to 14%, the volunteering to test group accounted for 2%. CONCLUSION The performance of NIPT for trisomies 21, 18 and 13 was satisfactory. The method can be used for women with advanced gestational age. NIPT has offered an ideal secondary screening method for those with an intermediate or high risk, and can reduce the rate of birth defects.
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China's prevention and control of parasitic diseases has made remarkable achievements. However,the prevalence and transmission of parasitic diseases is impacted by the complicated natural and social factors of environment ,natural disas-ters,population movements,and so on. Therefore,there are still the risks of the outbreak of emergency parasitic diseases af-fairs,which may affect the control effectiveness of parasitic diseases and endanger the social stability seriously. In this article , we aim at the analysis of typical cases of emergency parasitic disease affairs and their impacts on public health security in China in recently years,and we also elaborate the disposal characteristics of emergency parasitic disease affairs,and propose the estab-lishment of response system to emergency parasitic disease affairs in China,including the organizational structure and response flow path,and in addition,point out that,in the future,we should strengthen the system construction and measures of the re-sponse system to emergency parasitic disease affairs,so as to control the risk and harm of parasitic disease spread as much as possible and to realize the early intervention and proper disposal of emergency parasitic disease affairs.
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Objective To improve the information level of schistosomiasis control by using the related functions of Corel-DRAW software. Methods Combining with the requirement of schistosomiasis control,the sketch map was drawn according to the linear element drawing,the geometric drawing,the color rendering and the text adding. Results The schistosomiasis epi-demic sketch map and the Oncomelania hupensis snail distribution sketch map at all levels were produced in CorelDRAW soft-ware. Conclusion The sketch map drawing in CorelDRAW software is beautiful and standardizing,and it can improve the lev-el of information management.
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Objective To grasp the distribution and epidemiology of confirmed cases of schistosomiasis in Hubei Province, so as to provide the evidence for promoting the prevention and control work. Methods The confirmed cases of schistosomiasis in Hubei Province from 2010 to 2014 were epidemiologically investigated,and the prevalence characteristics and main influenc?ing factors were analyzed. Results A total of 10 102 confirmed cases from 2010 to 2014 were surveyed. There were 1 062 local infected patients,accounting for 10.51%and including 354 repeated infections and 17 newly infected. There were 290 foreign?infected patients,accounting for 2.87%,with 206 repeated infection cases and 84 newly infected. There were 8 750 historical patients,including 2 229 patients who leaked the former schistosomiasis investigations,accounting for 22.06%;570 patients missed treatment,accounting for 5.64%;3 640 patients were treated with non?standard therapy,accounting for 36.03%;2 311 patients were treated with poor medication efficacy,accounting for 22.88%. The multivariate non?conditional Logistic regres?sion,targeting at confirmed cases in 2014,showed that,for the leaking investigations,the potential risk factors included the age,educational level,and latrine renovation(b>0,OR>1),the protective factors were the times of previous treatment,cat?tle feeding in villager team,and Oncomelania hupensis snails in surroundings(b0,OR>1),and the educational level and snails in the own field were protective factors(b<0,OR<1). Conclusion The epidemiological investigation on the confirmed cases of schistosomiasis could grasp the epidemic factors so as to improve the management and carry out the scientific control.
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Objective To analyze the surveillance results of schistosomiasis and understand the transmission situation in Hu?bei Province in 2014. Methods According to the Scheme of Schistosomiasis Surveillance in Hubei Province(the 2009 edi?tion),207 endemic sites were selected,where the schistosome infections of residents and livestock,and the distribution of On?comelania hupensis snails were investigated. Results In the 207 sites,there were 27 sites without positive results of the blood tests and 129 sites without positive results of the stool tests. The infection rates of residents and cattle were 0.17%and 0,respec?tively. The density of living snails was 0.339 3 snails/0.1m2,the rate of living snails was 10.12%,and the infection rate of snails was 0. The infection rate of residents in the inner embankment type was 0.22%,higher than the rates in the other types. In differ?ent age groups,the infection rate in the 50-59 years age group was higher than the rates in other age groups. The infection rates of residents in farmer and fisherman were higher than those in the other occupation groups. The infection rate of floating people was 0,and no acute schistosomiasis patients were found. Conclusion The endemic situation of schistosomiasis has decreased obviously in Hubei Province,and the whole province has achieved the criteria for transmission control of schistosomiasis.
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Objective To analyze the Oncomelania hupensis snail situation in schistosomiasis surveillance sites in Hubei Province from 2009 to 2014. Methods From 2009 to 2014,207 schistosomiasis endemic villages from 13 cities were selected as the surveillance sites in Hubei Province,where the surveillance of snail situation was performed,and the data about the in?dexes of snail situation during the 6 years were collected and analyzed statistically. Results From 2009 to 2014,totally 80 963.47 hm2 of snail areas were investigated,and 45 309.77 hm2 of area with snails as well as 364.93 hm2 of area with infected snails were found out,and 1 646 125 snails were captured. In the 207 surveillance sites,the density of living snails was reduced from 0.493 3 snail/0.1 m2 in 2009 to 0.339 3 snail/0.1 m2 in 2014,with a decline rate of 31.22%;the density of infected snails was reduced from 0.000 7 snail/0.1 m2 in 2009 to 0 in 2014;the infection rate of snails was reduced from 0.14%in 2009 to 0 in 2014. The infection rates of snails in the third?rank villages,endemic areas in inner embankment,ditch environment and weed environment were relatively higher. Conclusions The snail situation of Hubei Province has been declined steadily. However, the environment of snail breeding has not been changed completely. In order to consolidate the control achievements further ,the measures including mollusciciding and snail control projects should be strengthened.
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Objective To evaluate the schistosomiasis transmission control in 19 counties(cities,districts)of Hubei Prov?ince in 2013. Methods The epidemic villages from different counties were randomly sampled by the cluster sampling method as the evaluation villages. The schistosome infection status of human and livestock,the Oncomelania hupensis snail status,the documents and data of schistosomiasis control,acute infection control and health education were investigated in the field. Re?sults The serum examination of schistosome infection was performed to 29 631 residents,and 2 068 were positive,with a posi?tive rate of 6.98%(0.78%-16.47%). The stool examination was performed to 2 021 sero?positive persons,and 47 cases were stool?positive,with an infection rate of 0.16%(0-0.82%). The cattle was the main domestic animals in 19 counties(cities, districts),and the measures of replacing cattle with machine for cultivation were done in 17 counties(cities,districts). Totally 105 cattle in Caidian District and Huangpi District received stool examinations and no positives were detected. A total of 1 579.37 hm2 and 31 829 frames in 154 environments were surveyed,and 4 857 snails were collected. Of the 1 935 living snails dissected,no infected snails were detected. The files regarding the schistosomiasis morbidity and snail status have been estab?lished in 19 counties(cities,districts)since 2009. Conclusion The transmission of schistosomiasis in 19 counties(cities, districts)of Hubei Province has reached the standard of transmission controlled.
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Objective To investigate the effect and current situation of the standardized construction of laboratories of schis?tosomiasis control institutions in Hubei Province,so as to provide the evidence for establishing and improving the quality control system of diagnosis of schistosomiasis after the transmission of schistosomiasis was under control. Methods According to the procedures of self?examination,field operation,and laboratory on?site,five laboratories were assessed,and all the results were analyzed comparatively. Results The average number of staffs were(7.00 ± 1.58)persons,and the staffs of the laboratories of the schistosomiasis control institutions with senior professional titles in the city level were more than that in the county level(t=5.563,P<0.05). The average space was(3.20±1.64)rooms,and the average area was(117.00±88.29)m2. The average score of field operation was(96.40 ± 4.49)points. The average score of laboratory on?site assessment was(106.6 ± 6.15)points. The highest and lowest of the laboratory on?site assessment scores were environment and facilities(19.60 ± 0.55)points and manage?ment system of laboratory quality control(15.70 ± 2.39)points(F=2.869,P<0.05),respectively. Conclusion The cultiva?tion of laboratory staff should be strengthened,and the diagnostic capacity should be maintained and improved. The laboratory quality control system should be paid more attention to,and the construction and management of schistosomiasis laboratories should be standardized.
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Objective To understand the dynamic schistosomiasis situation in Hubei Province so as to provide the evidence for formulating the effective control strategy. Methods According to the Scheme of Schistosomiasis Surveillance in Hubei Province the 2009 edition 207 endemic villages were selected and investigated for the schistosome infections of residents and livestock and the distribution of Oncomelania hupensis snails. Results The average infection rates of residents and cattle were 0.35% and 0.15% respectively and the endemic situation of fishermen and farmers were relatively serious 0.44% and 0.42% respectively . The density of living snails was 0.30 snail/0.1m2 but no infected snails were found. Conclusion The en-demic situation of schistosomiasis in Hubei Province was stable in 2013 but the efforts for the infectious source control still should be strengthened.
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Objective To understand the change of hydrological regime in the Yangtze River and schistosomiasis endemic situation after the implementation of Three Gorges Project in Hubei Province. Methods The data of hydrological regime of the Yangtze River,schistosomiasis epidemic situation,and Oncomelania hupensis snail status were collected and analyzed in Hu-bei Province from 2002 to 2012. Results After the implementation of the Three Gorges Project in 2003,the water level of the Yangtze River slightly rose from January to March,the average water level in May and August both reduced compared with that in 2002,and the time of water withdrawal was moved up. The endemic situation of schistosomiasis showed a decline tendency in areas along the Yangtze River in Hubei Province. The positive rate of serological tests in the residents and the Schistosoma ja-ponicum infection rate in bovine decreased by 2.97%and 92.64%respectively. The numbers of human and bovine infected with S. japonicum decreased by 48.35%and 94.48%,respectively. Conclusion After the implementation of the Three Gorges Proj-ect,the schistosomiasis endemic situation shows a decline tendency in the areas along the Yangtze River in Hubei Province ,but the long-term monitoring still need to be carried out.
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Objective To evaluate the schistosomiasis control effect of the measures of replacing cattle with machine for cul?tivation and forbidding depasturage of livestock on marshlands in marshland and lake regions. Methods The retrospective re?view and field survey were implemented in the Jiangling and Gongan counties of Hubei Province where were implemented with the measure of replacing cattle with machine for cultivation,and Yuanjiang and Huarong counties of Hunan Province where were implemented with the measure of forbidding the depasturage of livestock on marshlands. The schistosome infection status of hu?man,cattle,and Oncomelania hupensis snails,and schistosome?infested field excreta were surveyed from 2007 to 2013. The ef?fects of the interventions were compared before and after their implementations. Results The 6 villages of Hubei Province were implemented with the measure of replacing cattle with machine for cultivation,and 7 villages of Hunan Province were imple? mented with the measure of forbidding the depasturage of livestock on marshlands. From 2007 to 2013,the schistosome infection rates of residents declined from 3.95%to 0.70%(χ2 =128.376,P0.05). The infection rate of cattle decreased from 3.66%in 2007 to 0.65%in 2013,and the descend range was 82.24%(χ2=13.692,P<0.05). The field excreta was surveyed in the snail breeding place in 2013. The investigated area was 157.435 hm2, and 625 samples of field feces of cattle were collected with the density of field excreta of 3.97/hm2,and the positive rate was 1.12%(7/625). The schistosome infection rate of snails and the density of infected snails decreased successively from 2007, and no infected snails were detected from 2011 to 2013. Conclusions The schistosomiasis endemic situation are decreased sig?nificantly after the interventions of replacing cattle with machine for cultivation and forbidding the depasturage of livestock on marshlands. Therefore,schistosomiasis control effect of these measures is notable in the marshland and lake regions.
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Objective To study the endemic trend of schistosomiasis japonica in Hubei Province,so as to provide the theo?retical basis for surveillance and forecasting of schistosomiasis. Methods The time?series auto regression integrated moving av?erage(ARIMA)model was applied to fit the infection rate of residents of Hubei Province from 1987 to 2013,and to predict the shot?term trend of infection rate. Results The actual values of infection rate of residents were all in the 95%confidence inter?nals of value predicted by the ARIMA model. The prediction showed that the infection rate of residents of Hubei Province would continue to decrease slowly. Conclusion The time?series ARIMA model has good prediction accuracy,and could be used for the short?term forecasting of schistosomiasis.
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Objective To analyze the epidemic situation and spatial distribution of schistosomiasis in Hubei province.Methods Data on schistosomiasis endemic in humans were retrospectively collected at the county level from 2008 to 2012.Data on endemic schistosomiasis were matched to Geographic Information System (GIS) and geospatial databases to constitute the spatial database for analysis on schistosomiasis.Spatial aggregation of Schistosoma (S.)japonicum infection was analyzed by global spatial autocorrelation,using the Moran' s I index and local spatial autocorrelation of the Getis-Ord Gi* index.Results Both the number of schistosomiasis patients and the rate of infection on S.japonicum decreased from 2008 to 2012.Results from the global autocorrelation analysis on the prevalence of human S.japonicum infection for 5 years were statistically significant (Moran' s I＞0,P＜0.01).From local autocorrelation analysis,data showed that the number of highly aggregated areas ranged from eight to eleven within the five-year period.The highly aggregated areas were mainly distributed in eight counties,namely Jingzhou district,Shashi district,Jiangling county,Gongan county,Shishou city,Jianli county,Honghu city,and Chibi city.Conclusion Spatial agglomerations were present in the distribution of human S.japonicum infection from 2008 to 2012.Highly cluster areas were mainly distributed in the Yangtze River Basin of Jianghan Plain area.
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Objective To compare the molluscicidal effects between“Luo-wei”(TDS),a plant molluscicide in 4 percent, and metaldehyde and niclosamide(MNSC)in the field. Methods A natural ecological environment with Oncomelania hupensis was selected as the test area,the test concentrations of TDS and MNSC were 2.5 g/m3 and 2 ml/m3 respectively by the immersion method;the test doses of TDS and MNSC were 3 g/m2 and 2 ml/m2 respectively by the spray method;the doses of WPN in a control group were 2 g/m3 and 2 g/m2 respectively by the two methods above-mentioned. The molluscicidal effects between TDS and MNSC were compared by using the synchronous design method and parallel comparative method. Results In the TDS group,the death rate of snails was 90.70%by immersion for 24 hours,reached to 81.40%after spraying for 7 days,and there were no significant differences among the observation time points in molluscicidal effects(P>0.05). One day after the spraying,the death rate of snails was less in the TDS group compared with that in the MSCN group(P0.05). In the MSCN group,the death rate of snails was 99.17%by immersion for 24 hours,reached to 66.07% by spraying for 1 day. In the WPS group,the death rate of snails was 97.15% by immersion for 24 hours,reached to 71.43%after spraying for 1 day,and there were no significant differences(both P>0.05). Conclusion TDS has a good molluscicidal activity and stable efficacy,and the molluscicidal effect of TDS is similar to that of MSCN in the filed, but the molluscicidal sensitivity of TDS is lower than that of MSCN.