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Conservation practices from the perspective of functional diversity (FD) and conservation prioritization need to account for the impacts of exotic species in freshwater ecosystems. This work first simulated the influence of exotic species on the values of FD in a schemed mechanistic model, and then a practical case study of conservation prioritization was performed in the Min River, the largest river in southeastern China, to discuss whether including exotic species alters prioritization. The mechanistic model revealed that exotic species significantly altered the expected FD if the number of exotic species occupied 2% of the community. Joint species distribution modelling indicated that the highest FD occurred in the west, northwest and north upstreams of the Min River. Values of FD in 64.69% of the basin decreased after the exotic species were removed from calculation. Conservation prioritization with the Zonation software proved that if first the habitats of exotic species were removed during prioritization, 62.75% of the highest prioritized areas were shifted, average species representation of the endemic species was improved and mean conservation efficiency was increased by 7.53%. Existence of exotic species will significantly alter the metrics of biodiversity and the solution for conservation prioritization, and negatively weighting exotic species in the scope of conservation prioritization is suggested to better protect endemic species. This work advocates a thorough estimate of the impacts of exotic species on FD and conservation prioritization, providing complementary evidence for conservation biology and valuable implications for local freshwater fish conservation.
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Ecossistema , Rios , Animais , Conservação dos Recursos Naturais , Biodiversidade , ChinaRESUMO
BACKGROUND: Phenylalanine hydroxylase deficiency (PAHD) is the most prevalent inherited disorder of amino acid metabolism in China. Its complex phenotype includes many variants and genotypes among different populations. METHODS AND RESULTS: In this study, we analyzed the phenylalanine hydroxylase gene (PAH) variants in a cohort of 93 PAHD patients from Fujian Province. We also assessed genotype and phenotype correlation in patients with PAHD. A total of 44 different pathogenic variants were identified, including five novel variants. The three most prevalent variants among all patents were c.158G > A, p.(Arg53His) (18.03%), c.721C > T, p.(Arg241Cys) (14.75%), and c.728G > A, p.(Arg243Gln) (7.65%). The frequency of the c.158G > A, p.(Arg53His) variant was highest in patients with mild hyperphenylalaninemia, whereas the frequency of the c.1197A > T, p.(Val399 =) and c.331C > T, p.(Arg111Ter) variants was highest in patients with classic phenylketonuria. The most abundant genotypes observed in PAHD patients were c.[158G > A];[728G > A], c.[158G > A];[442-1G > A], and c.[158G > A];[721C > T]. Comparing allelic phenotype to genotypic phenotype values yielded fairly accurate predictions of phenotype, with an overall consistency rate was 85.71% for PAHD patients. CONCLUSIONS: Our study identified a PAH variant spectrum in PAHD patients from Fujian Province, Southeastern China. Quantitative correlation analysis between genotype and phenotype severity is helpful for genetic counseling and management.
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Fenilalanina Hidroxilase , Fenilcetonúrias , Humanos , Fenilalanina Hidroxilase/genética , Mutação/genética , Fenilcetonúrias/genética , Estudos de Associação Genética , Fenótipo , Genótipo , ChinaRESUMO
Perfluorooctanoate (PFOA) and perfluorooctane sulfonate (PFOS) levels were determined in surface water, groundwater and sediments of the Jin River Basin, southeastern China. PFOA was detected in most of the samples, and its concentrations ranged from 0.53 to 8.77 ng/L, 0.26 to 15.1 ng/L and not detected (ND) to 23.9 ng/g in surface water, groundwater and sediments, respectively. Unlike PFOA, the detection frequency of PFOS was lower than 32%, and its concentrations ranged from ND to 2.56 ng/L, ND to 7.01 ng/L, ND to 11.1 ng/g in surface water, groundwater and sediments, respectively. The environmental risk assessment showed that PFOA could pose a high risk to surface water and groundwater, and both PFOA and PFOS posed a high risk to sediments. Moreover, the adults living in the Jin River Basin were at insignificant health risk to exposure to PFOA and PFOS through water consumption.
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Ácidos Alcanossulfônicos , Fluorocarbonos , Água Subterrânea , Poluentes Químicos da Água , Ácidos Alcanossulfônicos/análise , Caprilatos , China , Fluorocarbonos/análise , Medição de Risco , Rios , Água , Poluentes Químicos da Água/análiseRESUMO
Thalassaemia is highly prevalent in southeastern China. This 10-year follow-up study aimed to characterize the genotype and karyotype of thalassaemia in fetal samples derived from thalassemia carriers in Fujian province, southeastern China. A total of 476 prenatal samples from 472 couples carrying α-thalassaemia traits and 224 samples from 223 couples carrying ß-thalassaemia traits were collected for STR analysis, detection of thalassemia genotypes and karyotyping. The common deletional α-thalassemias and rare thalassemia genotypes were detected using Gap-PCR assay, and the common ß-globin gene mutations were detected using PCR-RDB assay. We detected 43.49% prevalence of α-thalassaemia minor, 26.05% prevalence of α-thalassaemia intermediate and major and 1.89% prevalence of rare form among the 476 prenatal samples from couples with α-thalassaemia, and 85 fetuses with ß-thalassemia heterozygote, 16 with homozygote and 21 with double heterozygote, and a rare ßIVS-2-654(CâT) /Chinese Gγ (A γδß)0 genotype among the 224 prenatal samples from couples with ß-thalassemia. Karyotyping showed 7 fetuses with abnormal karyotypes. Totally 153 pregnancies were terminated, and genetic diagnosis of thalassemia using fetal umbilical cord blood following induction of labor showed consistent results with prenatal diagnosis. No thalassemia phenotypes were identified in normal infants half a year after birth, and the infants with α-thalassemia and ß-thalassemia minor had no or mild anemia symptoms, but normal development, while 15 babies with hemoglobin H disease presented moderate anemia symptoms. Our data suggest the pregestational screening of thalassemia, notably compound and rare forms of thalassemia, for couples carrying thalassemia traits.
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Diagnóstico Pré-Natal/estatística & dados numéricos , Talassemia , China , Feminino , Seguimentos , Humanos , Cariótipo , Linhagem , Gravidez , Talassemia/diagnóstico , Talassemia/epidemiologia , Talassemia/genéticaRESUMO
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
Extremely cold temperatures are a significant threat to agriculture and transportation in winter in southeastern China. However, due to the shortness of instrumental records and the scarcity of long-term temperature reconstructions, more high-quality temperature reconstructions are still needed to fully examine their spatial-temporal variability over the past several centuries. In this study, we built an earlywood width (EWW) chronology, a latewood width (LWW) chronology, and a tree-ring width (TRW) chronology using tree-ring samples of Pinus taiwanensis Hayata from the western Tianmu Mountains and the Xianyu Mountains in southeastern China. The tree growth-climate relationships were analyzed, and we found the strongest correlation between December and March mean temperature and the EWW chronology. The December-March mean temperature history was then reconstructed over the period of 1871-2016 using a linear regression model, which is the first EWW-based temperature reconstruction in southeastern China. With a higher explained variance (47.0%) than that (31.7%) of a previous reconstruction using a TRW chronology, the quality of the model has largely improved. This reconstruction was also comparable with other nearby records, further demonstrating the reliability of our new model. Furthermore, our reconstruction exhibits a significantly negative relationship with the East Asian winter monsoon index (EAWMI) since the 1920s, which may be attributed to the obviously enhanced EAWMI thereafter.
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Clima , Árvores , China , Reprodutibilidade dos Testes , TemperaturaRESUMO
Owing to their accessibility, shallow groundwater is an essential source of drinking water in rural areas while usually being used without control by authorities. At the same time, this type of water resource is one of the most vulnerable to pollution, especially in regions with extensive agricultural activity. These factors increase the probability of adverse health effects in the population as a result of the consumption of shallow groundwater. In the present research, shallow groundwater quality in the agricultural areas of Poyang Lake basin was assessed according to world and national standards for drinking water quality. To evaluate non-cancer health risk from drinking groundwater, the hazard quotient from exposure to individual chemicals and hazard index from exposure to multiple chemicals were applied. It was found that, in shallow groundwater, the concentrations of 11 components (NO3-, NH4+, Fe, Mn, As, Al, rare NO2-, Se, Hg, Tl and Pb) exceed the limits referenced in the standards for drinking water. According to the health risk assessment, only five components (NO3-, Fe, As, rare NO2- and Mn) likely provoke non-cancer effects. The attempt to evaluate the spatial distribution of human health risk from exposure to multiple chemicals shows that the most vulnerable area is associated with territory characterised by low altitude where reducing or near-neutral conditions are formed (lower reaches of Xiushui and Ganjiang Rivers). The largest health risk is associated with the immune system and adverse dermal effects.
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Monitoramento Ambiental/métodos , Água Subterrânea/análise , Medição de Risco/métodos , Poluentes Químicos da Água/análise , Agricultura , China , Água Potável/normas , Humanos , Lagos , Rios , Qualidade da ÁguaRESUMO
This study aimed to investigate the epidemiological features of HIV-infected subjects co-infected with HBV/HCV in Fujian Province, southeastern China, and identify the risk factors. Blood samples were collected from 2,028 HIV antibody-positive subjects in Fujian Province. Serum HBsAg and anti-HCV antibody were detected, and CD4+ T cell count was measured. Of the 2,028 subjects, the prevalence of HIV-HBV, HIV-HCV, and HIV-HBV-HCV co-infections was 16.22%, 3.7%, and 0.79%, respectively. Man (OR = 1.912, 95% CI: 1.371-2.667), key population (OR = 0.756, 95% CI: 0.57-0.976) and detainee (OR = 0.486, 95% CI: 0.259-0.909) were risk factors of HIV-HBV co-infection, and man (OR = 2.227, 95% CI: 1.096-4.525), minority (OR = 5.04, 95% CI: 1.696-14.98), junior high school or lower education (OR = 2.32, 95% CI: 1.071-5.025), intravenous drug use (OR = 38.46, 95% CI: 11.46-129.11) and detainee (OR = 5.687, 95% CI: 2.44-13.25) were risk factors of HIV-HCV co-infection. In addition, a lower mean CD4+ T cell count was measured in HIV/HBV and HIV/HCV co-infected subjects than in HIV-infected subjects among the untreated individuals, while in the treated populations, a higher mean CD4+ T cell count was detected in HIV/HBV and HIV/HCV co-infected subjects than in HIV-infected subjects. HIV co-infection with HBV or HCV, notably HIV-HBV co-infection, is widespread in southeastern China. Hepatitis virus screening should be included in monitoring of HIV infection, and HIV and hepatitis virus co-infection should be considered during the development of HIV antiretroviral therapy scheme. J. Med. Virol. 89:443-449, 2017. © 2016 Wiley Periodicals, Inc.
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Coinfecção/epidemiologia , Infecções por HIV/complicações , Hepatite B Crônica/epidemiologia , Hepatite C Crônica/epidemiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Contagem de Linfócito CD4 , Criança , Pré-Escolar , China/epidemiologia , Demografia , Feminino , Antígenos de Superfície da Hepatite B/sangue , Anticorpos Anti-Hepatite C/sangue , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Fatores de Risco , Adulto JovemRESUMO
Mitochondrial DNA (mtDNA) sequence data are widely used to delimit species. However, owing to its strict maternal inheritance in most species, mtDNA tracks female dispersion and dispersal only. The accuracy of mtDNA-derived species delimitation is often not explicitly tested using other independent evidence, such as nuclear DNA (nDNA) data, morphological data, or ecological data. Because species are independent evolutionary lineages that can form testable hypotheses, we present a multi-evidence case study on species delimitation that combines statistical approaches with spatially explicit ecological analysis. Montane salamanders of the Pachytriton brevipes complex (Salamandridae) from southeastern China exhibit conservative morphology and variable color patterning that impede species diagnosis. Recent studies proposed splitting P. brevipes into four species based on deep mtDNA divergence but also found discordance between mtDNA and nDNA trees. In this study, we test evolutionary independence of these hypothesized species lineages using two coalescent-based Bayesian methods (Bayes factor and BP&P). Despite significant conflict between mtDNA gene tree and the species phylogeny, the results reinforce the inference of at least four species in the complex as opposed to the one species recognized for over 130 years. Correlative ecological niche modeling and statistical analysis of environmental data indicate that suitable habitats for each species are isolated by incompatible intervening lowland regions, so the likelihood of gene flow among species is very low, which means species lineages should maintain their evolutionary independence. We demonstrate that concordance among independent evidence confirms species status, which forms the basis for accurate assessment of regional biodiversity.
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Salamandridae/classificação , Animais , Teorema de Bayes , Núcleo Celular/genética , China , DNA Mitocondrial/genética , Ecossistema , Fluxo Gênico , Filogenia , Salamandridae/anatomia & histologia , Salamandridae/genéticaRESUMO
A new gall wasp species, Dryocosmus zhuili Liu et Zhu, is herein described from the southeastern Fujian province of China. The new species induces galls on trees of Henry's chestnut, Castanea henryi, which is also a native host for the notorious Oriental chestnut gall wasp (OCGW, Dryocosmus kuriphilus Yasumatsu). D. zhuili overlaps with OCGW in emergence time and induces galls morphologically similar to that of OCGW on similar plant parts. In a previous study, we reported considerable divergence between mtDNA CO1 (mitochondrial DNA Cytochrome c oxidase subunit I) sequences of these wasps and the true OCGW wasps and suggested the existence of a cryptic species. Herein, we confirm the identity of the new species based on morphological and biological differences and provide a formal description. Although the new species is relatively easily separated from OCGW on basis of morphology, field identification involving the two species can still be problematic because of their small body size, highly similar gall morphology, and other life history traits. We further discussed the potential of the new species to be a pest for the chestnut industry and the consequences of accidental introduction of this species into nonnative areas, especially with regard to the bisexual reproduction mode of the new species in contrast to the parthenogenetic reproduction mode of OCGW.
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Fagaceae/parasitologia , Vespas/classificação , Animais , China , Folhas de Planta/parasitologia , Tumores de Planta/parasitologia , Reprodução/fisiologia , Vespas/anatomia & histologia , Vespas/fisiologiaRESUMO
AIM OF THE STUDY: To research the demographic and histopathological features of ESCC in southeastern China. MATERIAL AND METHODS: We retrospectively reviewed the ESCC cases in the biobank of the National Engineering Centre for Biochip in Shanghai, which cooperates with lots of hospitals and research institutions in southeastern China. The patients were pathologically confirmed as having ESCC. The demographic and histopathological features of these cases were analysed subsequently. RESULTS: A total of 1317 patients were enrolled. The overall male: female ratio was 2.88: 1. 74.34% of these cases occurred in people aged between 50-70 years. Dysphagia was the most common symptom, which accounted for 93.40% of all the patients. Stage II and III were predominant (79.73%). 72.89% of patients had a tumour length greater than 3 cm. Most of the tumours (65.83%) were located in middle third of the oesophagus. There was a significant difference among the tumour stage, length, and location in different sex groups (P < 0.05), but not between different age groups (P > 0.05). In males, ESCC is usually located in the lower parts, with a longer tumour length and higher tumour stage. 24.15% of patients had lymph nodes ratio (LNR) > 0.2. CONCLUSIONS: In our analysis, dysphagia was more common in ESCC patients, to whom more attention should be paid. Additionally, males had a higher incidence, with longer and more distant disease, which gives a poor prognosis.
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Biogenic and anthropogenic organic vapors are crucial precursors of ozone and secondary organic aerosol (SOA) in the atmosphere. Here we conducted real-time measurements of gaseous organic compounds using a Vocus proton-transfer-reaction mass spectrometer (Vocus PTR-MS) at the Shanghuang mountain site (1128 m a.s.l.) in southeastern China during November 2022. Our results revealed a substantial impact of mixed biogenic and anthropogenic compounds at the mountain site, with oxygenated volatile organic compounds (OVOCs) comprising 74 % of the organic vapors. Two distinct periods, characterized by sunny days (P1) and persistent cloud events (P2), were observed. P1 exhibited higher concentrations of biogenic-related emissions compared to P2. For instance, isoprene, monoterpenes, and sesquiterpenes during P1 were 2.4-2.9 times higher than those during P2. OVOCs such as acetaldehyde, MVK + MACR, acetone, and MEK also showed higher concentrations during P1, indicating a dominant source from the photochemical oxidation of biogenic VOCs. Anthropogenic-related VOCs like benzene and toluene had higher concentrations during P2, displaying different diurnal cycles compared to P1. Our analysis identified four biogenic-related factors dominated by isoprene and sesquiterpene oxidation products, and two anthropogenic-related factors. During P1, biogenic sources contributed approximately 80 % to total organic compounds, while during P2, anthropogenic sources, particularly the aromatic-related factor, increased from 16 % to 35 %. Furthermore, a unique factor characterized by C2 amines and C3 amides and periodic plumes indicated the influence of industrial emissions from regional transport. The study highlights the significant variations in sources and compositions of gaseous organic compounds at regional mountain sites due to changes in meteorology and photochemical processing, potentially impacting regional ozone and SOA formation.
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Introduction: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked hereditary disorder in southern China. However, the incidence rate of G6PD deficiency and the frequency of the most common G6PD gene variants vary widely. The purpose of this study was to investigate the prevalence, genotype, and phenotypic features of G6PD deficiency in neonates in Fujian province, southeastern China. Methods: This retrospective cohort study enrolled 2,789,002 newborns (1,521,431 males and 1,267,571 females) based on the newborn screening program for G6PD deficiency in Fujian Province between January 2010 and December 2021. Results: Of the 2,789,002 newborns enrolled, 26,437 cases were diagnosed (22,939 males and 3,498 females), and the estimated prevalence of G6PD deficiency in Fujian province was 0.95%. The prevalence was significantly higher among males (1.51%) than in females (0.28%) (p < 0.00001). Among the 3,198 patients with G6PD deficiency, 3,092 cases (2,145 males and 947 females) were detected to have G6PD gene variants. The top six prevalent genotypes identified represented 90.84% (2095/3,198) of the total and included c.1376G > T (44.93%), c.1388G > A (18.42%), c.1024C > T (9.32%), c.95A > G (8.69%), c.392G > T (5.25%), and c.871G > A (4.22%). The frequency of genotypes with c.1388G > A, c.1024C > T, and c.871G > A was higher in males in the Fujian province than in females, while the frequency of genotypes with c.1376G > T was lower. Furthermore, when comparing the enzyme activities of the top six prevalent genotypes, there were significant differences in the enzyme activities among the genotypes of male hemizygotes and female heterozygotes. According to the new classification of G6PD variants proposed by the World Health Organization (WHO), the variants with c.1376G > T, c.95A > G, and c.871G > A were recognized as Class A, while the c.392G > T, c.1388G > A, and c.1024C > T were recognized as Class B. Discussion: To the best of our knowledge, this study is the first to systematically describe the overview of epidemiological characteristics of newborn G6PD deficiency in Fujian province, China, including the screening rate, incidence rate, and variant spectrum. Additionally, we elucidated the relationship between the distribution of enzyme activity with specific mutations and their WHO classification patterns. Our results could provide strategies for screening, diagnosis, and genetic counseling of G6PD deficiency in this area.
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Objective: HIV/AIDS remains a global public health problem, and understanding the structure of social networks of people living with HIV/AIDS is of great importance to unravel HIV transmission, propose precision control and reduce new infections. This study aimed to investigate the epidemiological characteristics of HIV transmission in Fujian province, southeastern China from 2015 to 2020 based on HIV molecular network. Methods: Newly diagnosed, treatment-naive HIV/AIDS patients were randomly sampled from Fujian province in 2015 and 2020. Plasma was sampled for in-house genotyping resistance test, and HIV molecular network was created using the HIV-TRACE tool. Factors affecting the inclusion of variables in the HIV molecular network were identified using univariate and multivariate logistic regression analyses. Results: A total of 1,714 eligible cases were finally recruited, including 806 cases in 2015 and 908 cases in 2020. The dominant HIV subtypes were CRF01_AE (41.7%) and CRF07_BC (38.3%) in 2015 and CRF07_BC (53. 3%) and CRF01_AE (29.1%) in 2020, and the prevalence of HIV drug resistance was 4.2% in 2015 and 5.3% in 2020. Sequences of CRF07_BC formed the largest HIV-1 transmission cluster at a genetic distance threshold of both 1.5 and 0.5%. Univariate and multivariate logistic regression analyses showed that ages of under 20 years and over 60 years, CRF07_BC subtype, Han ethnicity, sampling in 2015, absence of HIV drug resistance, married with spouse, sampling from three cities of Jinjiang, Nanping and Quanzhou resulted in higher proportions of sequences included in the HIV transmission molecular network at a genetic distance threshold of 1.5% (p < 0.05). Conclusion: Our findings unravel the HIV molecular transmission network of newly diagnosed HIV/AIDS patients in Fujian province, southeastern China, which facilitates the understanding of HIV transmission patterns in the province.
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Síndrome da Imunodeficiência Adquirida , Infecções por HIV , HIV-1 , Humanos , Síndrome da Imunodeficiência Adquirida/epidemiologia , Infecções por HIV/epidemiologia , Infecções por HIV/diagnóstico , HIV-1/genética , Epidemiologia Molecular , China/epidemiologiaRESUMO
The estimated prevalence of tetrahydrobiopterin deficiency (BH4D) and the mutational spectrum of the causal 6-pyruvoyl-tetrahydropterin synthase (PTS) gene vary widely according to race and region. This study assessed the prevalence and genetic characteristics of BH4D in Fujian Province, southeastern China. A total of 3,204,067 newborns were screened between 2012 and 2022 based on the phenylalanine level and the phenylalanine/tyrosine ratio in dried blood spots. Differential diagnosis was determined by the urine purine spectrum, dihydropteridine reductase activity in red blood cells, and genetic testing. The PTS mutation spectrum and genotypes were determined by next-generation sequencing. A total of 189 newborns were diagnosed with hyperphenylalaninemia (HPA) over the study period, including 159 with phenylalanine hydroxylase deficiency and 30 with BH4D. Therefore, the prevalence of BH4D in Fujian was 9.36 per 1,000,000 live births (30/3,204,067) and the proportion of BH4D among patients with HPA was 15.87% (30/189). A total of 58 PTS alleles were identified in the 29 patients with PTS deficiency (PTPSD), and those alleles were composed of 10 different variants, including eight missense variants and two splice-site variants. The most prevalent variants were c.155A>G, p.Asn52Ser (44.83%); c.259C>T, p.Pro87Ser (39.66%); and c.84-291A>G, p.Tyr27Argfs*8 (3.45%). The predominant genotype was c [155A>G]; [259C>T] (11/29, 37.93%). The prevalence of BH4D and the spectrum of associated PTS mutations were successfully determined for the first time in Fujian Province, southeastern China. Since the mutation spectrum of PTS is region-specific, such data will facilitate molecular diagnosis and genetic counseling in PTPSD cases.
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BACKGROUND: Glutaric acidemia type 1 (GA1) is a rare autosomal recessive inherited metabolic disorder caused by variants in the gene encoding the enzyme glutaryl-CoA dehydrogenase (GCDH). The estimated prevalence of GA1 and the mutational spectrum of the GCDH gene vary widely according to race and region. The aim of this study was to assess the acylcarnitine profiles and genetic characteristics of patients with GA1 in Fujian Province, southeastern China. RESULTS: From January 2014 to December 2022, a total of 1,151,069 newborns (631,016 males and 520,053 females) were screened using MS/MS in six newborn screening (NBS) centers in Fujian Province and recruited for this study. Through NBS, 18 newborns (13 females and 5 males) were diagnosed with GA1. Thus, the estimated incidence of GA1 was 1 in 63,948 newborns in Fujian province. In addition, 17 patients with GA1 were recruited after clinical diagnosis. All but one patient with GA1 had a remarkable increase in glutarylcarnitine (C5DC) concentrations. The results of urinary organic acid analyses in 33 patients showed that the concentration of glutaric acid (GA) increased in all patients. The levels of C5DC and GA in patients identified via NBS were higher than those in patients identified via clinical diagnosis (P < 0.05). A total of 71 variants of 70 alleles were detected in patients with GA1, with 19 different pathogenic variants identified. The three most prevalent variants represented 73.23% of the total and were c.1244-2 A > C, p.(?) (63.38%), c.1261G > A, p.Ala421Thr (5.63%), and c.406G > T, p.Gly136Cys (4.22%). The most abundant genotype observed was c.[1244-2 A > C]; [1244-2 A > C] (18/35, 52.43%) and its phenotype corresponded to high excretors (HE, GA > 100 mmol/mol Cr). CONCLUSIONS: In conclusion, we investigated the biochemical and molecular features of 35 unrelated patients with GA1. C5DC concentrations in dried blood spots and urinary GA are effective indicators for a GA1 diagnosis. Our study also identified a GCDH variant spectrum in patients with GA1 from Fujian Province, southeastern China. Correlation analysis between genotypes and phenotypes provides preliminary and valuable information for genetic counseling and management.
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Erros Inatos do Metabolismo dos Aminoácidos , Encefalopatias Metabólicas , Feminino , Humanos , Masculino , Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Erros Inatos do Metabolismo dos Aminoácidos/epidemiologia , Erros Inatos do Metabolismo dos Aminoácidos/genética , Encefalopatias Metabólicas/epidemiologia , Encefalopatias Metabólicas/genética , China/epidemiologia , População do Leste Asiático , Glutaril-CoA Desidrogenase/genética , Espectrometria de Massas em Tandem/métodos , Recém-NascidoRESUMO
The relationship between regional human development and geographic environment is the basis for dynamic social change, and studying the evolution of human-land relations in typical regions can provide background knowledge for global change studies. This study is based on GIS and spatio-temporal statistical techniques, combined with the analysis of toponymic cultural landscapes, to study ethnic minority regions of southeastern China. The results show that: (1) The geographical environment of the region will affect the naming of villages, and the orientation and family name are the most common; the frequency of plants, pit (keng), animals, and flat (ping) is also very high. (2) Han settlements and She settlements have obvious spatial differentiation, and in general the Han distribution area is lower than that of the She. Han settlements are mainly distributed in plain areas along rivers with elevations less than 200 m; She settlements are mainly distributed in hilly areas (200~500 m) and low mountain areas (500~800 m). (3) The results of quadrat analysis and nearest neighbor index analysis show that both Han and She settlements are clustered in the spatial distribution pattern, and the distribution of She settlements is more clustered than that of Han, with more dense settlements at a certain spatial scale. The regional cultural landscape is the result of the development and evolution of human-land relationship, and the comprehensive analysis of cultural landscape can understand the process of human-land relationship in a small region. The settlements in the region are indicative of the geographic environment in terms of village naming, spatial pattern, elevation differentiation and relationship with rivers, which can reflect the environmental adaptation process of human activities.
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Minorias Étnicas e Raciais , Desenvolvimento Sustentável , Humanos , China , Etnicidade , Grupos Minoritários , RiosRESUMO
The behavior of microplastics in wastewater treatment plants has been investigated, but specific effects of treatment process on microplastics' fate are still unclear due to varied analysis methods and regional differences. In this study, four wastewater treatment plants in Ningbo of southeastern China with different treatment processes were selected to investigate transport and fate of microplastics. Based on number of microplastic particles, fibers and fragments were the main microplastics types in wastewater, while synthetic cellulose represented the largest fraction. The dominance of fibers (76.7%-90.0%) and small particle sizes (<2.0 mm, 62.5%-81.5%) in effluents suggested that they escaped easily from the wastewater treatment plants. The abundance of microplastics particles decreased from 78.0 ± 2.9 items/L in influent to 6.0 ± 2.8 items/L in effluent for anaerobic-anoxic-oxic process, 100.0 ± 3.1 items/L to 4.3 ± 3.4 items/L for sequencing batch reactor activated sludge process, 105.0 ± 5.3 items/L to 3.5 ± 2.6 items/L for cyclic activated sludge technology, 65.0 ± 4.3 items/L to 3.0 ± 1.6 items/L for oxidation ditch process. The microplastics removal capacity of primary and secondary treatment processes for four wastewater treatment plants ranged from 83.7% to 96.3%. Application of different tertiary treatment processes (coagulation/flocculation, membrane related technology and disinfection) enhanced microplastics removal to achieve overall removal rate of 92.3%-96.7%. The removed microplastics from the wastewater treatment plants were mainly transferred to sludge (226.1 ± 95.7-896.0 ± 144.0 items/g dry weight). The biological treatment unit played an important role in microplastics removal with rates varying between 86.9%-95.2%, while tertiary treatment reduced daily microplastics emission 1.4 × 108-2.3 × 108 items/day. This study suggests that proper selection of wastewater treatment unit could significantly reduce the emission number of microplastics, which supports an efficient control strategy of microplastics in wastewater treatment plants.
Assuntos
Poluentes Químicos da Água , Purificação da Água , Monitoramento Ambiental , Microplásticos , Plásticos , Esgotos , Eliminação de Resíduos Líquidos , Águas Residuárias/análise , Poluentes Químicos da Água/análiseRESUMO
Giardia duodenalis, an intestinal parasite, is widely distributed in humans and various animals, such as pigs, cattle and cats. The clinical symptoms of giardiasis are characterized as including abdominal pain, acute or chronic diarrhea, and bloating and weight loss in humans and animals, leading to public and veterinary health problems worldwide. However, the prevalence and genotypes of G. duodenalis in pigs in Fujian Province, southeastern China, have not been reported. In the present study, 725 fecal samples were collected from six cities (Fuqing, Putian, Nanping, Longyan, Sanming, Zhangzhou) in Fujian Province and analyzed for G. duodenalis prevalence and genotypes using nested PCR targeting the beta-giardin (bg), glutamate dehydrogenase (gdh) and triosephosphate isomerase (tpi) genes. The results shown that total occurrence rate of G. duodenalis was 26.9% (195/725) in pigs, with significant differences in the prevalence among different regions (χ2 = 86.508, p < 0.05) and groups (χ2 = 12.748, p < 0.05). 195, 11 and 6 samples were detected at the bg, tpi and gdh loci, respectively. Each one belonged to a subtype of assemblage E and was analyzed using sequences obtained in this study. Based on phylogenetic analyses of sequences from the three genetic loci, only one MLG E1 was found. The results indicated that pigs may present a potential zoonotic risk of spreading G. duodenalis infection from animals to humans in this area. The findings of the present study also provide basic data for the prevention and control of G. duodenalis infection in pigs and humans in China.
RESUMO
BACKGROUND: This study investigated the epidemiological characteristics, predisposing factors, clinical features, microbiological findings, and treatment outcomes of patients with fungal keratitis in southeastern China. METHODS: A retrospective review was carried out on 718 patients diagnosed with fungal keratitis at the the First Affiliated Hospital of Fujian Medical University between January 2004 and December 2017. The sociodemographic data, predisposing factors, clinical details, microbiological findings, and treatment strategies were analyzed. RESULTS: Fungal keratitis was diagnosed in 718 patients (442 male and 276 female; mean age, 41.4±13.1 years). Most patients came from rural areas (79.7%) and farm work was the main occupational activity (51.7%). Cases were more common during the harvest season between October and December (41.6%). Corneal trauma (73.7%), particularly injury with vegetative matter (51.5%), was the predominant predisposing factor. Corneal scrapings obtained from 621 patients were diagnosed as positive on direct microscopy using a 10% potassium hydroxide (KOH) wet mount preparation. The positive culture rate of corneal scrapings was 89.6%. Fungal isolates were Fusarium species in 444 eyes and Aspergillus species in 98 eyes. Antifungal medications were used to treat 529 patients and 189 patients received surgery. CONCLUSIONS: Fungal keratitis is a leading cause of infective corneal ulcers in southeastern China. Corneal trauma was the major predisposing factor and direct microscopic examination was a rapid and sensitive method for diagnosis. The species Fusarium was the most common fungal isolate. Antifungal medication was an effective method for treating early and mild cases.