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Arsenic is a pervasive pollutant in groundwater, affecting more than 100 million people in 50 countries, including China. Toxicological analysis of As is complicated because As exists in the environment in a variety of forms and redox states. Here, a thermodynamic equilibrium model was used to calculate As speciation, investigate pathways of As accumulation and assess the risk of adverse health effects from oral ingestion of dissolved As from shallow groundwater in the Poyang Lake area (China). The accumulation of As, Fe, and NH4+ in the studied shallow groundwater was found to be the result of the dissolution of As-containing Fe, and probably Mn, (oxyhydr)oxides under reducing conditions due to excess influx of organic matter into the shallow aquifer. Modeling showed that As(III), which is more toxic than As(V), predominated at nearly all sampling sites, regardless of redox conditions. Arsenic tends to accumulate in the highest concentrations as neutral species (As(OH)30, HAsO20) under Eh < 50 mV. In the lower reaches of the Ganjiang and Xiushui Rivers, an increased non-carcinogenic risk from oral ingestion of As from drinking water was observed. The elevated cancer risk was found to be present throughout the study area. The lower reaches of the Ganjiang and Xiushui Rivers that have been shown to have the highest risk of both non-carcinogenic and carcinogenic adverse health effects are associated with more toxic As(III) species. Given the As speciation and risk profile, it is recommended to introduce strategies to alter redox conditions in shallow groundwater by adopting safer irrigation practices and managing fertilizer applications to avoid the buildup of high As concentrations associated with adverse health effects.
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Arsênio , Água Subterrânea , Poluentes Químicos da Água , Humanos , Arsênio/toxicidade , Arsênio/análise , Monitoramento Ambiental , Água Subterrânea/análise , Lagos , Medição de Risco , China , Poluentes Químicos da Água/toxicidade , Poluentes Químicos da Água/análiseRESUMO
Schistosomiasis has been subjected to extensive control efforts in the People's Republic of China (China) which aims to eliminate the disease by 2030. We describe baseline results of a longitudinal cohort study undertaken in the Dongting and Poyang lakes areas of central China designed to determine the prevalence of Schistosoma japonicum in humans, animals (goats and bovines) and Oncomelania snails utilizing molecular diagnostics procedures. Data from the Chinese National Schistosomiasis Control Programme (CNSCP) were compared with the molecular results obtained.Sixteen villages from Hunan and Jiangxi provinces were surveyed; animals were only found in Hunan. The prevalence of schistosomiasis in humans was 1.8% in Jiangxi and 8.0% in Hunan determined by real-time polymerase chain reaction (PCR), while 18.3% of animals were positive by digital droplet PCR. The CNSCP data indicated that all villages harboured S. japonicum-infected individuals, detected serologically by indirect haemagglutination assay (IHA), but very few, if any, of these were subsequently positive by Kato-Katz (KK).Based on the outcome of the IHA and KK results, the CNSCP incorporates targeted human praziquantel chemotherapy but this approach can miss some infections as evidenced by the results reported here. Sensitive molecular diagnostics can play a key role in the elimination of schistosomiasis in China and inform control measures allowing for a more systematic approach to treatment.
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Schistosoma japonicum , Esquistossomose Japônica , Esquistossomose , Animais , Bovinos , China/epidemiologia , Humanos , Estudos Longitudinais , Prevalência , Reação em Cadeia da Polimerase em Tempo Real , Schistosoma japonicum/genética , Esquistossomose/epidemiologia , Esquistossomose Japônica/epidemiologia , Esquistossomose Japônica/veterinária , CaramujosRESUMO
Thalassemia is one of southern China's most common inherited disorders. Little is known about the genotypes of thalassemia in children in Jiangxi Province, the People's Republic of China (PRC). Two thousand, nine hundred and fifty-two children with suspected thalassemia were recruited from August 2016 to December 2020 at the Jiangxi Provincial Children's Hospital, Nanchang, PRC. Reverse dot-blot hybridization was used to detect α- and ß-thalassemia (α- and ß-thal) genotypes. A rare mutation was detected using gap-polymerase chain reaction (gap-PCR) and gene sequencing. The overall distribution of thalassemia (1534 cases) was 51.96%, and the detection rate of α-thal (616 cases), ß-thal (888 cases) and concurrent α- and ß-thalassemias (30 cases) was 20.86, 30.08, and 1.02%, respectively. A rare α-thal genotype, -α27.6/- -SEA (Southeast Asian), was identified. Seventy-eight cases of severe ß-thal were detected, accounting for 8.78% of the cases, including 56 double heterozygous cases and 22 cases that were homozygous. Both α- and ß-thalassemias are widely distributed in the children of Jiangxi Province. Thalassemia genetic testing is essential to establish a comprehensive thalassemia prevention program and improve public education.
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Talassemia , Talassemia alfa , Talassemia beta , Criança , Humanos , Talassemia/genética , Talassemia beta/diagnóstico , Talassemia beta/epidemiologia , Talassemia beta/genética , Mutação , Genótipo , China/epidemiologia , Talassemia alfa/epidemiologia , Talassemia alfa/genética , Talassemia alfa/diagnósticoRESUMO
Cryptosporidium is a genus of single-celled protozoa, infecting a wide range of animals and humans. Although Cryptosporidium infections of cattle have been reported in some provinces in China, there is no available information on the prevalence and predominant species of Cryptosporidium in cattle in Jiangxi province. To investigate the prevalence of Cryptosporidium in cattle in Jiangxi province of China, 556 fecal samples were collected from eight farms in four cities and the SSU rRNA locus of Cryptosporidium was amplified from the DNA of each fecal sample by PCR. The overall prevalence of Cryptosporidium was 12.8% (71/556) in cattle in Jiangxi province, with 24.3% (54/222) in Nanchang city, 7.8% (13/166) in Gao'an city, 3.7% (4/108) in Xinyu city, and 0.0% (0/60) in Ji'an city. The differences of the prevalence rates by region, breed, and age groups were statistically significant. All positive PCR products of Cryptosporidium were successfully sequenced and identified as three Cryptosporidium species, namely Cryptosporidium bovis (1/556, 0.18%), Cryptosporidium ryanae (7/556, 1.3%), and Cryptosporidium andersoni (63/556, 11.3%). Furthermore, 36 C. andersoni isolates were successfully classified into three MLST (multilocus sequence typing) subtypes based on four genetic loci (MS1, MS2, MS3, and MS16). The predominant MLST subtype was A4, A4, A4, A1 (n = 30). These findings not only revealed the prevalence and predominant species of Cryptosporidium in cattle in Jiangxi province, but also provided a baseline for studying the genetic structure of C. andersoni, offering a novel resource for better understanding of the epidemiology of Cryptosporidium infection in cattle in Jiangxi province, southeastern China.
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Doenças dos Bovinos/epidemiologia , Criptosporidiose/epidemiologia , Cryptosporidium/genética , Cryptosporidium/isolamento & purificação , Animais , Sequência de Bases , Bovinos , Doenças dos Bovinos/parasitologia , China/epidemiologia , Criptosporidiose/parasitologia , Cryptosporidium/classificação , DNA de Protozoário/genética , Fezes/parasitologia , Genótipo , Tipagem de Sequências Multilocus , Filogenia , Reação em Cadeia da Polimerase , PrevalênciaRESUMO
Socioeconomic factors are key driving forces for the occurrence and development of soil erosion, but their effects are not well understood. To analyse the relationship between the socioeconomic system and soil erosion, a framework was proposed and validated with structural equation modelling. Population pressure, economic development, agricultural inputs and outputs and soil erosion are latent variables of the framework. A case study was conducted in Jiangxi Province. The results showed that economic development was the key controlling factor and that agricultural output was the main promoting factor for soil erosion, with path coefficients of -1.321 and 1.609 in 1995 and -0.624 and 0.453 in 2010, respectively. This implied that the contradiction between socioeconomic development and ecological protection was alleviated during the study period. Agricultural input controlled severe soil erosion (-|0.322) while promoting mild soil erosion (0.095), which indicated that more attention should be paid to the adverse impact of excessive agricultural inputs on soil erosion control. The identification of the socioeconomic driving forces of regional soil erosion could help adjust the development strategy and mitigate the negative effects of economic development on soil erosion control and ecological conservation.
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Conservação dos Recursos Naturais , Solo , China , Análise de Classes Latentes , Fatores Socioeconômicos , Erosão do SoloRESUMO
Based on the investigation of wild medicinal plant resources in Dexing city, Jiangxi province, and the collected plant specimens, which were identified by taxonomy, two new record species of geographical distribution were found, which are Meehania zheminensis A. Takano, Pan Li & G.-H. Xia and Corydalis huangshanensis L.Q.Huang & H.S.Peng. The voucher specimens are kept in Dexing museum of traditional Chinese medicine. In this paper, the new distribution species were reported, which provides valuable information for further enriching and supplementing the species diversity of medicinal plant resources in Jiangxi province.
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Corydalis , Lamiaceae , Plantas Medicinais , China , Humanos , Medicina Tradicional Chinesa , MuseusRESUMO
Giardia lamblia is a common enteric pathogen associated with diarrheal diseases. There are some reports of G. lamblia infection among different breeds of cattle in recent years worldwide. However, it is yet to know whether cattle in Jiangxi province, southeastern China is infected with G. lamblia. The objectives of the present study were to investigate the prevalence and examine the multilocus genotypes of G. lamblia in cattle in Jiangxi province. A total of 556 fecal samples were collected from 3 cattle breeds (dairy cattle, beef cattle, and buffalo) in Jiangxi province, and the prevalence and genotypes of G. lamblia were determined by the nested PCR amplification of the beta-giardin (bg) gene. A total of 52 samples (9.2%) were positive for G. lamblia. The highest prevalence of G. lamblia was detected in dairy cattle (20.0%), followed by that in beef cattle (6.4%), and meat buffalo (0.9%). Multilocus sequence typing of G. lamblia was performed based on sequences of the bg, triose phosphate isomerase and glutamate dehydrogenase loci, and 22, 42, and 52 samples were amplifiable, respectively, forming 15 MLGs. Moreover, one mixed G. lamblia infection (assemblages A and E) was found in the present study. Altogether, 6 novel assemblage E subtypes (E41*-E46*) were identified for the first time. These results not only provided baseline data for the control of G. lamblia infection in cattle in this southeastern province of China, but also enriched the molecular epidemiological data and genetic diversity of G. lamblia in cattle.
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Doenças dos Bovinos/epidemiologia , Doenças dos Bovinos/parasitologia , Variação Genética , Genótipo , Giardia lamblia/genética , Giardíase/epidemiologia , Giardíase/parasitologia , Giardíase/veterinária , Animais , Bovinos , China/epidemiologia , Proteínas do Citoesqueleto/genética , Fezes/parasitologia , Feminino , Técnicas de Genotipagem/métodos , Giardia lamblia/classificação , Giardia lamblia/enzimologia , Giardia lamblia/isolamento & purificação , Glutamato Desidrogenase/genética , Masculino , Prevalência , Proteínas de Protozoários/genética , Triose-Fosfato Isomerase/genéticaRESUMO
Sample size estimation is a key issue for validating land cover products derived from satellite images. Based on the fact that present sample size estimation methods account for the characteristics of the Earth's subsurface, this study developed a model for estimating sample size by considering the scale effect and surface heterogeneity. First, we introduced a watershed with different areas to indicate the scale effect on the sample size. Then, by employing an all-subsets regression feature selection method, three landscape indicators describing the aggregation and diversity of the land cover patches were selected (from 14 indicators) as the main factors for indicating the surface heterogeneity. Finally, we developed a multi-level linear model for sample size estimation using explanatory variables, including the estimated sample size (n) calculated from the traditional statistical model, size of the test region, and three landscape indicators. As reference data for developing this model, we employed a case study in the Jiangxi Province using a 30 meter spatial resolution global land cover product (Globeland30) from 2010 as a classified map, and national 30 meter land use/cover change (LUCC) data from 2010 in China. The results showed that the adjusted square coefficient of R2 is 0.79, indicating that the joint explanatory ability of all predictive variables in the model to the sample size is 79%. This means that the predictability of this model is at a good level. By comparing the sample size NsNS obtained by the developed multi-level linear model and n as calculated from the statistics model, we find that NsNsNS is much smaller than n, which mainly contributes to the concerns regarding surface heterogeneity in this study. The validity of the established model is tested and is proven as effective in the Anhui Province. This indicates that the estimated sample size from considering the scale effect and spatial heterogeneity in this study achieved the same accuracy as that calculated from a probability statistical model, while simultaneously saving more time, labour, and money in the accuracy assessment of a land cover dataset.
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We report human endophthalmitis caused by pseudorabies virus infection after exposure to sewage on a hog farm in China. High-throughput sequencing and real-time PCR of vitreous humor showed pseudorabies virus sequences. This case showed that pseudorabies virus might infect humans after direct contact with contaminants.
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Endoftalmite/epidemiologia , Endoftalmite/virologia , Herpesvirus Suídeo 1 , Pseudorraiva/epidemiologia , Pseudorraiva/virologia , Animais , China/epidemiologia , Endoftalmite/diagnóstico , Endoftalmite/história , Evolução Molecular , Feminino , Genes Virais , História do Século XXI , Humanos , Pessoa de Meia-Idade , Filogenia , Pseudorraiva/diagnóstico , Pseudorraiva/históriaRESUMO
Heavy metal are often added to animal fodder and accumulate in the soils with swine manure. In this study, heavy metal (Cu, Pb, Cd, Zn, As and Cr) concentrations were determined in agricultural soils irrigated with swine manure in Jiangxi Province, China. Results showed that the average concentrations of Cu, Zn, As and Cr (32.8, 93.7, 21.3 and 75.8 mg/kg, respectively) were higher than the background values, while Pb and Cd (15.2 and 0.090 mg/kg, respectively) were lower than the background values. Contamination factors [Formula: see text] indicated that they were generally moderate for Cu, Zn, As and Cr and generally low for Pb and Cd. The contamination degree (C d ) was calculated to be 7.5-10.0 indicating a moderate degree of contamination. The geoaccumulation index (Igeo) indicated that the soils were unpolluted with Zn, Cd and Pb, while unpolluted to moderately pollute with Cr, Cu and As. The single ecological risk factor [Formula: see text] revealed that the six heavy metals all belonged to low ecological risk. The ecological risk indices suggested that all the sampling sites were at low risk level.
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Monitoramento Ambiental , Esterco/análise , Metais Pesados/análise , Poluentes do Solo/análise , Solo/química , Agricultura/métodos , Animais , China , Ecologia , Metais Pesados/toxicidade , Medição de Risco , Suínos , VerdurasRESUMO
Seven species were reported as new records of Jiangxi province, which collected from Wugongshan region, including Huperzia kunmingensis(Lycopodiaceae), Hydrangea mangshanensis(Saxifragaceae), Itea glutinosa(Saxifragaceae), Stellaria monosperma var. japonica(Lycopodiaceae), Youngia pratti(Compositae), and Calanthe henryi(Orchidaceae), Collabium formosanum(Orchidaceae). Among these species, H. kunmingensis, H. mangshanensis, I. glutinosa, Y. pratti and C. henryi are endemic in China. C. henryi is stenotopic distribution in China and regarded as vulnerable endangered plant by IUCN. The report is of great significance to the plant diversity and floristic composition in Jiangxi. All the specimens examined are preserved in Jishou University (JIU) and Sun yat-sen University (SYS).
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Asteraceae/classificação , Lycopodiaceae/classificação , Orchidaceae/classificação , Plantas Medicinais/classificação , Saxifragaceae/classificação , ChinaRESUMO
Schistosomiasis control is not only a disease control programme, but also a great social practice activity in China. During the evolution of national schistosomiasis control programmes, the special schistosomiasis control culture has been cultivated and developed, which contains the spiritual connotation of government-led, people-oriented, respect for science and integration of all efforts. The publication of Chairman Mao Zedong's two poems entitled "Farewell to the God of Plague" and the post-script in 1958 was a sign for the formation and development of Chinese schistosomiasis control culture, which always lead the orientation of development and practice of schistosomiasis control culture building. The schistosomiasis control culture provides powerful spiritual motivation and supports to schistosomiasis control programmes in China, and improving the building of schistosomiasis control culture is of great significance to strengthen our belief in achieving the goal of schistosomiasis elimination, mobilize all social resources, accelerate the progress towards elimination of schistosomiasis and facilitate the high-quality development of healthcare services. Chinese schistosomiasis control spirit is the refinement from the cultural connotation of the long-term schistosomiasis control programmes in China, and is the most essential and concentrated embodiment of the schistosomiasis control culture. This article describes the great significance of two poems entitled "Farewell to the God of Plague", summarizes the connotation and role of schistosomiasis control spirit, and introduces the practice, development and innovation of schistosomiasis control culture building in Jiangxi Province.
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Peste , Esquistossomose , Humanos , Esquistossomose/prevenção & controle , China/epidemiologiaRESUMO
Land-use changes are an important factor affecting the change in carbon storage in terrestrial ecosystems. Exploring the relationship between land-use changes and carbon storage provides reliable data support for optimizing regional land-use structure and maintaining regional carbon balance. Taking Jiangxi Province as an example, we first analyzed the land-use changes; then simulated the land-use pattern under three scenarios (i.e., natural development, ecological priority, and economic development scenarios) in 2030 based on the PLUS model; and finally estimated the carbon storage change in the past (i.e., 1990-2020) and future periods (i.e., three scenarios in 2030) using the InVEST model, analyzed the spatial-temporal characteristics, and proposed the corresponding suggestions. The results showed:â The carbon storage in Jiangxi Province showed a downward trend from 1990 to 2020, with a total reduction of 4.58×107 t. The increase in the water bodies and construction land and the decrease in cultivated land, woodland, grassland, and unused land was the major cause. â¡ The carbon storage under natural development, ecological priority, and economic development scenarios in Jiangxi Province in 2030 were 2.20×109, 2.24×109 and 2.19×109 t, respectively. ⢠The carbon storage under the three scenarios showed similar spatial characteristics, wherein the high carbon storage was distributed in northern, northwest, and western regions, and the low carbon storage was distributed near the central region. These results can provide data support for future land spatial planning and improving the carbon storage of terrestrial ecosystems in Jiangxi Province.
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Orf is a zoonosis caused by the Orf virus (ORFV), which is endemic in goats, sheep, and wild ruminants worldwide. Orf infection is prevalent in China, with outbreaks reported in several provinces. Currently, there is limited information available regarding the characterization of ORFV strains in Jiangxi province. This study investigated an acute outbreak of Orf that occurred in 2021 in a goat herd in the Jiangxi province of China. Clinical signs in this case included lesions on the lips, nose, and inside the mouth. The presence of ORFV was confirmed from tissue samples by polymerase chain reaction (PCR). The nucleotide sequences of the B2L and F1L genes were fully sequenced and used to construct phylogenetic trees. The results of this investigation identified the ORFV JXxy2021 as the cause of the outbreak. The phylogenetic analysis revealed that the ORFV strain JXxy2021 had the highest similarity to the ORFV strains GO and FJ-SL from the neighboring province of Fujian. This suggests that JXxy2021 was likely transmitted from Fujian province. The results have provided valuable information on the genetic characteristics of JXxy2021 and the endemic situations of Orf in China.
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Jingmen tick virus (JMTV) is a newly identified segmented flavivirus that has been recognized in multiple hosts, such as humans, buffalos, bats, rodents, mosquitos and ticks. Various clinical cases and studies manifested that JMTV is a true arbovirus with wide host spectrum and showed potential threats toward public health. JMTV has been reported in multiple countries in Asia, Europe, Africa, and America. Moreover, wild boars serve as an important intermediary between humans and the wild ecological system. In China, it has been reported in nine provinces, while the prevalence and the distribution of JMTV in most regions including Jiangxi Province are still unknown. Thus, to profile the distribution of JMTV in Jiangxi Province, an epidemiological investigation was carried out from 2020 to 2022. In current study, 66 ticks were collected from 17 wild boars in Jiangxi Province. The results showed that 12 out of 66 ticks were JMTV positive, indicating JMTV is prevalent in ticks and boars in Jiangxi Province. The genome sequences of JMTV strain WY01 were sequenced to profile viral evolution of JMTV in China. Phylogenetic analysis divided JMTV strains into two genotypes, Group I and Group II. WY01 belongs to Group II and it shares the closest evolutionary relationship with the Japan strains rather than the strains from neighboring provinces in China suggesting that JMTV might have complex transmission routes. Overall, current study, for the first time, reported that JMTV is prevalent in Jiangxi Province and provided additional information concerning JMTV distribution and evolution in China.
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Objective: To investigate the screening results and compliance of low-dose computed tomography (LDCT) screening among the high-risk lung cancer populations in Jiangxi Province from 2018 to 2020, and to explore the related influencing factors of compliance. Methods: From November 2018 to October 2020, permanent residents in Nanchang City were selected and their demographic data and lung cancer risk factor data were collected to screen high-risk groups, and LDCT screening was performed on high-risk groups with diagnostic reports by 2 chief physicians. Descriptive analysis method was used to analyze the basic information of screening, screening results and screening compliance. χ2 and logistic regression test were used to conduct single and multi-factor analysis of screening compliance. Results: A total of 26,588 people participated in this screening, of which 34.4% (n=9,139) were at high risk of lung cancer, 3,773 participants were completed LDCT screening, and the screening compliance rate was 41.3%. Screening results showed that 389 participants were positive for suspected pulmonary tumor or lung nodules, the screening positive rate of 10.3%. The logistic multivariable results of screening compliance showed that the compliance was better in males, those who quit smoking, those with chronic respiratory diseases and family history of cancer, and those who have primary education, those with a history of occupational harmful exposure had a poor compliance. Conclusion: Compliance with lung cancer screening in Jiangxi Province, China still needs to be improved, and gender, education level, harmful occupational exposure, smoking, chronic respiratory diseases, and family history of tumors cancer play an important role on screening compliance.
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Background: Only one zodariid species, Storenomorphalushanensis Yu & Chen, 2009 was found from Jiangxi Province. No other Mallinella species have been recorded from this Province. New information: A new species, Mallinellashahu sp. n. is described from Jiangxi Province, China. Morphological illustrations, living photos and distribution map are given.
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Flooding is the main natural factor in snail diffusion, and it has a negative impact on schistosomiasis transmission. There are few studies on the spread and migration of snails following a flood; therefore, we aimed to investigate the influence of flooding on snail diffusion and explore the characteristics and laws of snail diffusion in Jiangxi Province. By using a retrospective survey and cross-sectional survey, the data on snail spreading in Jiangxi Province from 2017 to 2021 were collected. The distribution, nature, and area of snail spread were systematically analyzed in combination with the hydrological situation, types of region, and types of flood. From 2017 to 2021, a total of 120 snail-spread environments were found, including in 92 hilly areas and in 28 lake areas. The areas caused by flood and by other means numbered 6 and 114, respectively. The proportions of recurrence, expansion, and first-time occurrences were 43.42%, 38.16%, and 18.42%, respectively, and the 14 new snail environments were only distributed in the hilly areas. With the exception of 2018, the ratio of snail-spread areas in the hilly region was higher than that in lake region in other years. The average density of live snails was 0.0184-1.6617 no./0.1 m2 and 0.0028-0.2182 no./0.1 m2 in the hilly region. Among the 114 environments affected by floods, 86 consisted of hilly environments, including 66 spreading environments affected by rainstorm floods, and 20 rainstorm debris flow environments. There were 28 lake areas, of which 10 were in the Jiangxi section of Yangtze River and were affected by rainstorm floods. Snail spread following flooding has a certain 'lag effect,' and = simple annual changes in hydrological characteristics have little effect on the diffusion of snails or on their density = in the affected environment, but it is more closely related to local floods. The hilly environments are more susceptible to floods than the lake region, and the risk of snail spread is much higher in the hilly than in the lake region.
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Three new Otacilia species were collected from Jiangxi Provinces, China during a survey of the spider fauna of the region: Otaciliaanfu Liu, sp. nov. (ââ), O.guanshan Liu, sp. nov. (ââ), and O.mingyueshan Liu, sp. nov. (ââ). All species are described and illustrated with photographs and SEM micrographs, and their distribution is also mapped.
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Background: Phenylalanine hydroxylase deficiency (PAHD) is an autosomal recessive disorder of amino acid metabolism and caused by mutations in the phenylalanine hydroxylase (PAH) gene. Without timely and appropriate dietary management, the disturbance of amino acid metabolism may impair cognitive development and neurophysiological function. Newborn screening (NBS) can aid the early diagnosis of PAHD, which can give accurate therapy to PAHD patients in time. In China, the PAHD incidence and PAH mutation spectrum vary enormously across the provinces. A total of 5,541,627 newborns from Jiangxi province were screened by NBS between 1997 and 2021. Method: One seventy one newborns from Jiangxi province were diagnosed with PAHD. By Sanger sequencing and the multiplex ligation-dependent probe amplification (MLPA) analysis, mutation analysis was performed in 123 PAHD patients. Using an arbitrary values (AV)-based model, we compared the observed phenotype with the predicted phenotype based on the genotype. Results: In this study, we speculated the PAHD incidence of Jiangxi province was about 30.9 per 1,000,000 live births (171/5,541,627). We summarized the PAH mutation spectrum in Jiangxi province for the first time. Two novel variants (c.433G > C, c.706 + 2T > A) were found. The most prevalent variant was c.728G > A (14.1%). The overall prediction rate of the genotype-phenotype was 77.4%. Conclusion: This mutation spectrum is very meaningful to improve the diagnostic rate of PAHD and to increase the accuracy genetic counseling. This study offers data for the genotype-phenotype prediction suitable for Chinese population.