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1.
Chemosphere ; 352: 141513, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-38387657

RESUMEN

Microplastics (MPs) and nanoplastics (NPs) are widely spreading in our living environment, accumulating in the human body and potentially threating human health. The retina, which is a terminally differentiated extension of the central nervous system, is essential for the visual system. However, the effects and molecular mechanisms of MPs/NPs on retina development and function are still unclear. Here, we investigated the effects and modes of action of polystyrene NPs (PS-NPs) on the retina using mice as a mammalian model species. Maternal PS-NP exposure (100 nm) at an environmentally realistic concentration of 10 mg L-1 (or 2.07 *1010 particles mL-1) via drinking water from the first day of pregnancy till the end of lactation (21 days after birth) caused defective neural retinal development in the neonatal mice, by depositing in the retinal tissue and reducing the number of retinal ganglion cells and bipolar cells. Exposure to PS-NPs retarded retinal vascular development, while abnormal electroretinogram (ERG) responses and an increased level of oxidative stress were also observed in the retina of the progeny mice after maternal PS-NP exposure. Metabolomics showed significant dysregulation of amino acids that are pivotal to neuron retinal function, such as glutamate, aspartate, alanine, glycine, serine, threonine, taurine, and serotonin. Transcriptomics identified significantly dysregulated genes, which were enriched in processes of angiogenesis, visual system development and lens development. Regulatory analysis showed that Fos gene mediated pathways could be a potential key target for PS-NP exposure in retinal development and function. Our study revealed that maternal exposure to PS-NPs generated detrimental effects on retinal development and function in progeny mice, offering new insights into the visual toxicity of PS-NPs.


Asunto(s)
Nanopartículas , Contaminantes Químicos del Agua , Humanos , Femenino , Embarazo , Animales , Ratones , Microplásticos , Poliestirenos/toxicidad , Exposición Materna/efectos adversos , Plásticos , Metaboloma , Mamíferos
2.
Environ Sci Pollut Res Int ; 31(7): 11307-11320, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38217811

RESUMEN

High-fluoride groundwater is commonly found in coastal areas worldwide, while its formation mechanism remains elusive. Herein, a comprehensive study was performed to identify the major controlling factor of high-fluoride groundwater occurrence along the eastern coast of China. Hydrogeochemical methods were employed to examine the distribution patterns of seawater intrusion and fluoride concentration and the impact of seawater intrusion on the fluoride concentration. The results indicate that seawater intrusion significantly influences the groundwater evolution process in the study areas. The groundwater in Laizhou Bay was affected by brine, and the groundwater in Tianjin and Jiangsu was affected by seawater with a mixing ratio lower than 40% and 20%, respectively. And the fluoride concentration in groundwater from Tianjin, Laizhou Bay, and Jiangsu generally exceeded 1 mg/L, with the average of 2.3 mg/L, 24.9 mg/L, and 34.6 mg/L, respectively. Both the degree of seawater intrusion and the fluoride concentration exhibit a consistent pattern: Laizhou Bay > Tianjin > Jiangsu. Cl- concentration in groundwater varies positively with the F- concentration (y = 0.66x - 1.31). Moreover, the spatial distribution of areas with high-fluoride groundwater mirrors that of seawater intrusion. The high-fluoride groundwater varies spatially and is related to the degree, stage, and type of seawater intrusion. In other words, when seawater intrusion intensifies more or groundwater in the freshwater renewal phase with higher Na+/Ca2+ or the presence of paleo-seawater intrusion with higher fluoride concentration of brine, the concentration of fluoride in groundwater is higher. As seawater intrusion intensifies, the high-fluoride groundwater in the study areas generally poses a higher health risk to human. These findings enhance our comprehension of the mechanisms underpinning high-fluoride groundwater in coastal regions and the environmental ramifications of seawater intrusion.


Asunto(s)
Fluoruros , Agua Subterránea , Sales (Química) , Humanos , Fluoruros/análisis , Monitoreo del Ambiente/métodos , Agua de Mar , China
4.
Biomolecules ; 13(12)2023 11 30.
Artículo en Inglés | MEDLINE | ID: mdl-38136595

RESUMEN

BACKGROUND: Ovarian cancer (OV) is associated with high mortality and poses challenges in diagnosis and prognosis prediction. Ubiquitin-related genes (UbRGs) are involved in the initiation and progression of cancers, but have still not been utilized for diagnosis and prognosis of OV. METHODS: K48-linked ubiquitination in ovarian tissues from our OV and control cohort was assessed using immunohistochemistry. UbRGs, including ubiquitin and ubiquitin-like regulators, were screened based on the TCGA-OV and GTEx database. Univariate Cox regression analysis identified survival-associated UbRGs. A risk model was established using the LASSO regression and multivariate Cox regression analysis. The relationship between UbRGs and immune cell infiltration, tumor mutational burden, drug sensitivity, and immune checkpoint was determined using the CIBERSORT, ESTIMATE, and Maftools algorithms, based on the Genomics of Drug Sensitivity in Cancer and TCGA-OV databases. GEPIA2.0 was used to analyze the correlation between FBXO9/UBD and DNA damage repair-related genes. Finally, FBXO9 and UBD were accessed in tissues or cells using immunohistochemistry, qPCR, and Western blot. RESULTS: We confirmed the crucial role for ubiquitination in OV as a significant decrease of K48-linked ubiquitination was observed in primary OV lesions. We identified a prognostic signature utilizing two specific UbRGs, FBXO9 and UBD. The risk score obtained from this signature accurately predicted the overall survival of TCGA-OV training dataset and GSE32062 validation dataset. Furthermore, this risk score also showed association with immunocyte infiltration and drug sensitivity, revealing potential mechanisms for ubiquitination mediated OV risk. In addition, FBXO9, but not UBD, was found to be downregulated in OV and positively correlated with DNA damage repair pathways, suggesting FBXO9 as a potential cancer suppressor, likely via facilitating DNA damage repair. CONCLUSIONS: We identified and validated a signature of UbRGs that accurately predicts the prognosis, offers valuable guidance for optimizing chemotherapy and targeted therapies, and suggests a potential role for FBXO9 in OV.


Asunto(s)
Neoplasias Ováricas , Ubiquitina , Humanos , Femenino , Pronóstico , Ubiquitina/genética , Neoplasias Ováricas/genética , Ubiquitinación , Algoritmos
5.
Int J Mol Sci ; 24(18)2023 Sep 12.
Artículo en Inglés | MEDLINE | ID: mdl-37762313

RESUMEN

Epithelial ovarian cancer (EOC) is the most lethal gynecological malignant tumor. Endoplasmic reticulum (ER) stress plays an important role in the malignant behaviors of several tumors. In this study, we established a risk classifier based on 10 differentially expressed genes related to ER stress to evaluate the prognosis of patients and help to develop novel medical decision-making for EOC cases. A total of 378 EOC cases with transcriptome data from the TCGA-OV public dataset were included. Cox regression analysis was used to establish a risk classifier based on 10 ER stress-related genes (ERGs). Then, through a variety of statistical methods, including survival analysis and receiver operating characteristic (ROC) methods, the prediction ability of the proposed classifier was tested and verified. Similar results were confirmed in the GEO cohort. In the immunoassay, the different subgroups showed different penetration levels of immune cells. Finally, we conducted loss-of-function experiments to silence TRPM2 in the human EOC cell line. We created a 10-ERG risk classifier that displays a powerful capability of survival evaluation for EOC cases, and TRPM2 could be a potential therapeutic target of ovarian cancer cells.


Asunto(s)
Neoplasias Ováricas , Canales Catiónicos TRPM , Humanos , Femenino , Carcinoma Epitelial de Ovario/genética , Canales Catiónicos TRPM/genética , Neoplasias Ováricas/genética , Biomarcadores , Estrés del Retículo Endoplásmico
6.
Zhongguo Dang Dai Er Ke Za Zhi ; 25(7): 697-704, 2023 Jul 15.
Artículo en Chino | MEDLINE | ID: mdl-37529951

RESUMEN

OBJECTIVES: To investigate the risk factors for neonatal asphyxia in Hubei Enshi Tujia and Miao Autonomous Prefecture and establish a nomogram model for predicting the risk of neonatal asphyxia. METHODS: A retrospective study was conducted with 613 cases of neonatal asphyxia treated in 20 cooperative hospitals in Enshi Tujia and Miao Autonomous Prefecture from January to December 2019 as the asphyxia group, and 988 randomly selected non-asphyxia neonates born and admitted to the neonatology department of these hospitals during the same period as the control group. Univariate and multivariate analyses were used to identify risk factors for neonatal asphyxia. R software (4.2.2) was used to establish a nomogram model. Receiver operator characteristic curve, calibration curve, and decision curve analysis were used to assess the discrimination, calibration, and clinical usefulness of the model for predicting the risk of neonatal asphyxia, respectively. RESULTS: Multivariate logistic regression analysis showed that minority (Tujia), male sex, premature birth, congenital malformations, abnormal fetal position, intrauterine distress, maternal occupation as a farmer, education level below high school, fewer than 9 prenatal check-ups, threatened abortion, abnormal umbilical cord, abnormal amniotic fluid, placenta previa, abruptio placentae, emergency caesarean section, and assisted delivery were independent risk factors for neonatal asphyxia (P<0.05). The area under the curve of the model for predicting the risk of neonatal asphyxia based on these risk factors was 0.748 (95%CI: 0.723-0.772). The calibration curve indicated high accuracy of the model for predicting the risk of neonatal asphyxia. The decision curve analysis showed that the model could provide a higher net benefit for neonates at risk of asphyxia. CONCLUSIONS: The risk factors for neonatal asphyxia in Hubei Enshi Tujia and Miao Autonomous Prefecture are multifactorial, and the nomogram model based on these factors has good value in predicting the risk of neonatal asphyxia, which can help clinicians identify neonates at high risk of asphyxia early, and reduce the incidence of neonatal asphyxia.


Asunto(s)
Asfixia Neonatal , Nomogramas , Recién Nacido , Humanos , Masculino , Embarazo , Femenino , Estudios Retrospectivos , Cesárea , Factores de Riesgo , Asfixia Neonatal/epidemiología , Asfixia Neonatal/etiología
7.
J Assist Reprod Genet ; 40(7): 1713-1720, 2023 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-37261584

RESUMEN

OBJECTIVE: To evaluate the distribution of chromosomal abnormalities in a recurrent pregnancy loss (RPL) cohort and explore the associations between chromosomal abnormalities and clinical characteristics. METHOD: Over a 5-year period, fresh products of conception (POC) from women with RPL were analyzed by single-nucleotide polymorphism (SNP) array at our hospital. After obtaining the information on clinical characteristics, we investigated the associations between the causative chromosomal abnormalities and clinical characteristics by the chi-squared test or Fisher's exact test and logistic regression. RESULTS: A total of 2383 cases were enrolled. Overall, 56.9% (1355/2383) were identified with causative chromosomal abnormalities, of which 92.1% (1248/1355) were numerical abnormalities, 7.5% (102/1355) were structural variants, and 0.4% (5/1355) were loss of heterozygosity (LOH). The risk of numerical abnormalities was increased in women with maternal age ≥ 35 years (OR, 1.71; 95% CI, 1.41-2.07), gestational age at pregnancy loss ≤ 12 weeks (OR, 2.78; 95% CI, 1.79-4.33), less number of previous pregnancy losses (twice: OR, 2.32; 95% CI, 1.84-2.94; 3 times: OR, 1.59; 95% CI, 1.23-2.05, respectively), and pregnancy with a female fetus (OR, 1.37; 95% CI, 1.15-1.62). The OR of pregnancy loss with recurrent abnormal CMA was 4.00 (95% CI: 1.87-8.58, P < 0.001) and the adjusted OR was 5.05 (95% CI: 2.00-12.72, P = 0.001). However, the mode of conception was not associated with the incidence of numerical abnormality. No association was noted between structural variants and clinical characteristics. CONCLUSION: Chromosomal abnormality was the leading cause of RPL. Numerical chromosome abnormality was more likely to occur in cases with advanced maternal age, an earlier gestational age, fewer previous pregnancy losses, and pregnancy with a female fetus.


Asunto(s)
Aborto Habitual , Trastornos de los Cromosomas , Embarazo , Femenino , Humanos , Adulto , Lactante , Aberraciones Cromosómicas , Edad Materna , Aborto Habitual/epidemiología , Aborto Habitual/genética , Aneuploidia
8.
Mar Pollut Bull ; 188: 114564, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-36736248

RESUMEN

Groundwater is a main source of water supply in Guangxi Province, China. The urbanization expansion and ocean dynamic may change the groundwater quality, which is an important issue due to its effects on human health. In this paper, the influence of seawater intrusion and anthropogenic activity on the Guangxi coastal aquatic environment was assessed by geochemical and multivariate statistical methods. The result indicated that the chemical composition of groundwater in the study area is obviously associated with seawater and the main groundwater types were Ca·Na-Cl, Ca·Na-HCO3, and Ca-HCO3·Cl. The groundwater evolution path from land to sea in Guangxi is Ca-HCO3 â†’ Na·Mg-Cl. The origin of salts in the study area is mainly controlled by mineral weathering, the hydrogen and oxygen isotopes contents point to the aqueous source of atmospheric precipitation. According to the results of PCA, seawater intrusion and pollution caused by human activities play an increasingly important role in the evolution of groundwater characteristics. Seawater intrusion is the main factor for the increase of groundwater salinity in Guangxi, while domestic sewage, industrial waste, fertilizers, and pesticides may contribute to the nitrate pollution of groundwater, especially in Beihai. The degree of groundwater nitrate pollution is as follows: Fangchenggang < Qinzhou < Beihai, which is associated with the degree of urbanization in the coastal area. Finally, the results of the water quality index (WQI) assessment show that 82.8 % of the samples were classified as excellent, while there is still a need to be vigilant about groundwater pollution caused by seawater intrusion and groundwater pollution. The results will be valuable for sustainable groundwater resource management in Guangxi coastal zone.


Asunto(s)
Agua Subterránea , Contaminantes Químicos del Agua , Humanos , Monitoreo del Ambiente/métodos , Nitratos/análisis , Contaminantes Químicos del Agua/análisis , China , Agua Subterránea/química , Calidad del Agua , Agua de Mar
9.
Sci Total Environ ; 854: 158666, 2023 Jan 01.
Artículo en Inglés | MEDLINE | ID: mdl-36108837

RESUMEN

Microplastics can enter the human body via direct body contact or the food chain, increasing the likelihood of adverse impacts on pregnancy and fetal development. We investigated the potential effects and modes of action of polystyrene nanoplastics (PS-NPs) in placenta and fetus using mice as a model species. Maternal PS-NP exposure (100 nm; 1 and 10 mg/L) via drinking water induced a significant decline in fetal weights at the higher exposure concentration. Abnormal morphologies of cells in the placenta and fetus were observed after exposure. For the placenta, transcriptomic analyses indicated that PS-NPs significantly disturbed cholesterol metabolism and complement and coagulation cascades pathways. Metabolomics showed appreciable metabolic disorders, particularly affecting sucrose and daidzein concentrations. For the fetal skeletal muscle, transcriptomics identified many significantly regulated genes, involving muscle tissue development, lipid metabolism, and skin formation. Transcriptomic analysis of the placenta and fetal skeletal muscle at the high PS-NP concentration showed that APOA4 and its transcriptional factors, facilitating cholesterol transportation, were significantly regulated in both tissues. Our study revealed that PS-NPs caused fetal growth restriction and significantly disturbed cholesterol metabolism in both placenta and fetus, offering new insights into the mechanisms underlying the placental and fetal effects in mice exposed to PS-NPs.


Asunto(s)
Enfermedades Metabólicas , Nanopartículas , Embarazo , Ratones , Femenino , Humanos , Animales , Placenta , Poliestirenos/toxicidad , Poliestirenos/metabolismo , Exposición Materna , Plásticos/metabolismo , Desarrollo Fetal , Feto , Colesterol , Enfermedades Metabólicas/metabolismo
10.
Sci Total Environ ; 844: 157205, 2022 Oct 20.
Artículo en Inglés | MEDLINE | ID: mdl-35810892

RESUMEN

Seawater intrusion (SWI) seriously affects the economic development of coastal areas in southern China, and understanding its mechanisms is the basis for effective control of SWI. Hydrogeochemical methods and slack-based measurement data envelopment analysis (SBM-DEA) are used to study the characteristics and potential risk of SWI in coastal cities of southern China. Types and distribution of SWI, coastal groundwater evolution, geological-geographic and economic threatens of SWI, potential SWI risk, and environmental management recommendations are explored. The results show that the intrusion areas of Zhejiang and Guangdong account for 94.1 % of the total intrusion area of southern China, and the intrusion degree in Zhejiang is the highest, followed by Guangdong and Fujian. SWI is prone to occur on the sandy and silty coasts of the plain area of southern China; it accelerates the groundwater evolution speed and shortens the evolution path. SBM-DEA can be well applied to evaluate the potential risk of SWI events, and the results indicate a noticeable difference in the environmental performance level of coastal cities in southern China. The low environmental performance level (<0.3) and severe SWI of Taizhou and Zhanjiang indicate that SWI gradually worsens with economic development. In contrast, the high environmental performance level (>0.7) and low SWI of Wenzhou, Fuzhou, Quanzhou, Shantou, and Beihai indicate that the potential risk of SWI is gradually decreasing. Moreover, this study confirms that the environmental Kuznets curve (EKC) phenomenon exists in SWI events for southern China, and SWI-EKC indicates that the urban development of south China is approaching maturity. The specific case of SWI and EPL in coastal cities of south China jointly indicates that optimizing industrial structure, implementing a resources management policy, and improving citizens' environmental awareness are fundamental measures to resolve the contradiction between economic development and environmental problems.


Asunto(s)
Agua Subterránea , Agua de Mar , China , Ciudades , Monitoreo del Ambiente , Agua Subterránea/química , Industrias
11.
Mol Cytogenet ; 15(1): 6, 2022 Feb 28.
Artículo en Inglés | MEDLINE | ID: mdl-35227291

RESUMEN

BACKGROUND: With the introduction of genetic tests such as chromosomal microarray analysis (CMA) and exome sequencing (ES) into fetal medical practices, genotype-phenotype correlations in intrauterine-onset disorders have substantially improved. The BMP2 gene, located on the long arm of chromosome 20 plays a role in bone and cartilage development and is associated with Brachydactyly type A2, an autosomal dominant disease characterized by malformations of the middle phalanx of the index finger and abnormalities of the second toe. However, the BMP2 gene has so far never been reported as a candidate gene for Brachydactyly type D (BDD) affecting only the thumbs. METHODS AND RESULTS: Here, we report one family possessing a maternally inherited 6.3 Mb microduplication of 20p13p12.2 including the BMP2 gene with discordant phenotypes between the mother and the fetus. The mother was affected with BDD alongside mild facial dysmorphism and learning difficulties, while the female fetus showed BDD, severe symmetric intrauterine growth restriction combined with oligohydramnios. The CMA and Trio ES tests were implemented. Trio ES ruled out other possible monogenic causes for the family. After reviewing cases and literature with duplications within this genomic region, we found that they are extremely rare and most of the cited cases were too small for comparison. The disturbance of the BMP2 gene could explain BDD, but the other clinical presentations in the mother and fetus are not yet fully understood. CONCLUSION: This study provides important evidence for the current understanding of genotype-phenotype association of this 6.3 Mb size duplication in the 20p13p12.2 region. This duplication is a unique CNV occurring so far only in this family. Further cases and research are needed to understand the discordance in the phenotypes between the mother and fetus and establish the relationship between BMP2 gene and BDD.

12.
Front Genet ; 12: 791856, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34970304

RESUMEN

Noninvasive prenatal diagnosis (NIPD) of single-gene disorders has recently become the focus of clinical laboratories. However, reports on the clinical application of NIPD of Duchenne muscular dystrophy (DMD) are limited. This study aimed to evaluate the detection performance of haplotype-based NIPD of DMD in a real clinical environment. Twenty-one DMD families at 7-12 weeks of gestation were prospectively recruited. DNA libraries of cell-free DNA from the pregnant and genomic DNA from family members were captured using a custom assay for the enrichment of DMD gene exons and spanning single-nucleotide polymorphisms, followed by next-generation sequencing. Parental haplotype phasing was based on family linkage analysis, and fetal genotyping was inferred using the Bayes factor through target maternal plasma sequencing. Finally, the entire experimental process was promoted in the local clinical laboratory. We recruited 13 complete families, 6 families without paternal samples, and 2 families without probands in which daughter samples were collected. Two different maternal haplotypes were constructed based on family members in all 21 pedigrees at as early as 7 gestational weeks. Among the included families, the fetal genotypes of 20 families were identified at the first blood collection, and a second blood collection was performed for another family due to low fetal concentration. The NIPD result of each family was reported within 1 week. The fetal fraction in maternal cfDNA ranged from 1.87 to 11.68%. In addition, recombination events were assessed in two fetuses. All NIPD results were concordant with the findings of invasive prenatal diagnosis (chorionic villus sampling or amniocentesis). Exon capture and haplotype-based NIPD of DMD are regularly used for DMD genetic diagnosis, carrier screening, and noninvasive prenatal diagnosis in the clinic. Our method, haplotype-based early screening for DMD fetal genotyping via cfDNA sequencing, has high feasibility and accuracy, a short turnaround time, and is inexpensive in a real clinical environment.

13.
Sci Rep ; 11(1): 1544, 2021 01 15.
Artículo en Inglés | MEDLINE | ID: mdl-33452372

RESUMEN

Soil microbe is crucial to a healthy soil, therefore its diversities and abundances under different conditions are still need fully understand.The aims of the study were to characterize the community structure and diversity of microbe in the rhizosphere soil after continuous maize seed production, and the relationship between the disease incidence of four diseases and the variation of the rhizosphere microbe. The results showed that different fungal and bacterial species were predominant in different cropping year, and long-term maize seed production had a huge impact on structure and diversity of soil microbial. Ascomycota and Mortierellomycota were the dominant fungal phyla and Mortierella and Ascomycetes represented for a large proportion of genus. A relative increase of Fusarium and Gibberella and a relative decrease of Mortierella, Chrysosporium, Podospora, and Chaetomium were observed with the increase of cropping year. Pathogenic Fusarium, Curvularia, Curvularia-lunata, Cladosporium, Gibberella-baccata, and Plectosphaerellaceae were over-presented and varied at different continuous cropping year, led to different maize disease incidence. Proteobacteria and Actinobacteria ranked in the top two of all bacterial phyla, and genus Pseudarthrobacter, Roseiflexus and RB41 dominated top 3. Haliangium and Streptomyces decreased with the continuous cropping year and mono-cropping of maize seed production increased disease incidence with the increase of cropping year, while the major disease was different. Continuous cropping of maize seed production induced the decrease of protective microbe and biocontrol genera, while pathogenic pathogen increased, and maize are in danger of pathogen invasion. Field management show great effects on soil microbial community.


Asunto(s)
Rizosfera , Semillas/microbiología , Zea mays/microbiología , Agricultura/métodos , Bacterias/clasificación , Biodiversidad , Microbiota/fisiología , Enfermedades de las Plantas/microbiología , Raíces de Plantas/microbiología , Semillas/crecimiento & desarrollo , Suelo/química , Microbiología del Suelo , Zea mays/crecimiento & desarrollo
14.
Analyst ; 146(3): 816-819, 2021 Feb 08.
Artículo en Inglés | MEDLINE | ID: mdl-33393565

RESUMEN

We developed a "signal-on" self-powered biosensing strategy by taking full advantage of both photoelectrochemical biofuel cells (PBFCs) and metal-organic framework (MOF)-controlled release behavior for ultrasensitive microRNA assay. PBFC-based self-powered sensors have the unique characteristics of non-requirement of external power sources, simple fabrication process, miniature size, good anti-interference ability and low cost. Furthermore, based on the target microRNA-induced release of the electron donor ascorbic acid and the high catalytic ability of the biocathode to catalyse the oxygen reduction reaction, photo-driven self-powered biosensors for ultrasensitive microRNA detection were successfully realized. The as-proposed signal-on biosensor not only provides a simple and effective strategy, but also possesses the merits of a wide dynamic concentration response range and high sensitivity for microRNA detection, with a limit of detection down to 0.16 fM.


Asunto(s)
Técnicas Biosensibles , Estructuras Metalorgánicas , MicroARNs , Preparaciones de Acción Retardada , Técnicas Electroquímicas , Límite de Detección
15.
Front Genet ; 12: 784135, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-35140738

RESUMEN

SLC22A18 (solute carrier family 22 member 18) is an imprinted gene, but its role in growth and development is not clear. In the present study, we recorded the clinical information of six male patients of six unrelated families. Real-time quantitative PCR, Sanger sequencing, and DNA methylation sequencing were performed in these patients. The results suggested that the patients with the clinical characteristics of allergic allergy, short stature, and fatty liver had a lower expression of SLC22A18. One novel variant (chr11: 2899732 delA) with clinical significance was found in the core promoter region of the patients. Overall, this study found a syndrome associated with SLC22A18.

16.
Mol Genet Genomic Med ; 8(9): e1340, 2020 09.
Artículo en Inglés | MEDLINE | ID: mdl-32573981

RESUMEN

BACKGROUND: Expanded carrier screening (ECS) has emerged as an effective approach to identify at-risk couples (ARCs)-before they initiate attempts at reproduction-who possess a high probability of having a child affected by severe recessive diseases. The objective of this study was to evaluate the clinical utility of ECS in Chinese patients seeking the help of assisted reproductive technology (ART). METHODS: An ECS test, which covers 201 genes implicated in 135 recessive (autosomal or X-linked) diseases, was routinely offered to all ART patients in a single genetics and in vitro fertilization clinic. Additional options for preimplantation or prenatal genetic diagnosis were discussed and offered to all ARCs. All ECS results were aggregated and the clinical decisions of the ARCs were surveyed. RESULTS: A total of 2,923 ART patients, representing 1,462 couples, were screened. Overall, 46.73% of the individuals were found to be the carriers for at least 1 of the 135 diseases. Of the tested couples, 2.26% (n = 33) were identified as ARCs. As of the completion of this study, 21 (63.6%) ARCs have decided to avert an affected pregnancy with the help of preimplantation genetic testing for monogenetic conditions. The cumulative carrier rate of the 187 autosomal recessive genes in the ECS panel for the 2,836 Han Chinese individuals without a family history was estimated to be 45.91%. The estimated at-risk couple rate indicates that the screening for only the top 31 genes with gene carrier rates >0.5% would identify more than 94% of the ARCs identified by screening all 187 genes. CONCLUSION: Our study demonstrates that ESC yields a significant clinical value for ART patients in China. In addition, by estimating the yields of the ECS panel, we identify genes that are appropriate for screening the Han population.


Asunto(s)
Tamización de Portadores Genéticos/estadística & datos numéricos , Enfermedades Genéticas Congénitas/diagnóstico , Técnicas Reproductivas Asistidas/estadística & datos numéricos , Adulto , China , Femenino , Genes Recesivos , Tamización de Portadores Genéticos/métodos , Enfermedades Genéticas Congénitas/epidemiología , Enfermedades Genéticas Congénitas/genética , Humanos , Masculino , Diagnóstico Preimplantación/métodos , Diagnóstico Preimplantación/estadística & datos numéricos , Diagnóstico Prenatal/métodos , Diagnóstico Prenatal/estadística & datos numéricos
17.
Sci Total Environ ; 719: 137260, 2020 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-32120094

RESUMEN

The seawater intrusion in the Dagu River Basin, China, has attracted intensive attention from the government and scholars. Increasing data have become available with the development of data acquisition technology. This situation brings unprecedented opportunities and challenges to the hydrochemical evolution analysis and improvement of seawater intrusion. The hydrochemical evolution process of groundwater is studied on the basis of our collected data in the Dagu River Basin by using mathematical statistics, end-element mixing, Durov, and Gibbs. The negative influencing factors of the groundwater environment are determined. Results show that the groundwater on the north side of the cutoff wall is mainly affected by residual saltwater, sulfuric acid leakage, and NO- 3 pollution. The groundwater on the south side of the cutoff wall is seriously affected by seawater invasion, followed by NO- 3 pollution. Meanwhile, the groundwater on the west bank of the Dagu River Basin is mainly affected by NO- 3 pollution. The groundwater on the north side of the cutoff wall must be discharged on a large scale for its improvement. Meanwhile, unpolluted water is recharged to renew the groundwater resources. Groundwater exploitation should be reduced, and the exploitation area should be dispersed to mitigate seawater intrusion and increase the recharge of the groundwater resources. NO- 3 pollution mainly comes from the sowing of chemical fertilizers and pesticides and domestic waste. Therefore, we should reduce the use of pesticides and fertilizers to control the generation, storage, and treatment of domestic pollutants strictly.

18.
Sci Total Environ ; 719: 137450, 2020 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-32120100

RESUMEN

The Changjiang (Yangtze) River Estuary (CJE) is one of the largest and most intense seasonal hypoxic zones in the world. Here we examine the possibility that submarine groundwater discharge (SGD) may contribute to the summer hypoxia. Spatial distributions of bottom water 222Rn suggest a hotspot discharge area in the northern section of the CJE. SGD fluxes were estimated based on a 222Rn mass balance model and were found to range from 0.002 ± 0.004 to 0.022 ± 0.011 m3/m2/day. Higher SGD fluxes were observed during summer hypoxia period. The well-developed overlap of the distribution patterns for SGD flux and dissolved oxygen (DO) implies that SGD could be an important contributor to summer hypoxia in the region off the CJE. We suggest that SGD contributes to the seasonal hypoxia either: (1) directly via discharge of anoxic groundwaters together with reducing substances; and/or (2) indirectly by delivering excess nutrients that stimulate primary productivity with consequent consumption of DO during organic matter decomposition.

19.
ACS Omega ; 4(17): 17098-17108, 2019 Oct 22.
Artículo en Inglés | MEDLINE | ID: mdl-31656882

RESUMEN

In this article, a new diesel particulate filter (DPF) system with reciprocating flow is proposed, and an experimental study on the characteristics of the active-passive component regeneration of the DPF system is carried out. Several control parameters such as temperature distribution, pressure difference, and pollution emissions of the DPF system are measured for different reciprocating cycles. The mechanism of reciprocating flow regeneration of the DPF system and the effects of the reciprocating flow cycle on the performance of the DPF system are analyzed. Results show that (1) the DPF system can use a tiny amount of extra fuel to maintain the chemical reaction, which in turn realizes the regeneration of the catalyzed DPF because of its properties of heat recovery and reverse blowing of ash; (2) with the increase in the reciprocating flow cycle, the temperature profile moves toward the downstream side of the DPF system and the fluctuation amplitudes of the components of CO, NO, and NO2 increase; (3) if reasonable temperature distribution is formed in the DPF system for a certain reciprocating cycle, the regeneration efficiency can be obviously improved and the average content of particulate matter emission can be kept at quite a low level.

20.
Micromachines (Basel) ; 10(6)2019 Jun 24.
Artículo en Inglés | MEDLINE | ID: mdl-31238547

RESUMEN

Near-infrared fluorescence probes (NIFPs) have been widely used in immunoassay, bio-imaging and medical diagnosis. We review the basic principles of near-infrared fluorescence and near-infrared detection technology, and summarize structures, properties and characteristics of NIFPs (i.e., cyanines, xanthenes fluorescent dyes, phthalocyanines, porphyrin derivates, single-walled carbon nanotubes (SWCNTs), quantum dots and rare earth compounds). We next analyze applications of NIFPs in immunoassays, and prospect the application potential of lateral flow assay (LFA) in rapid detection of pathogens. At present, our team intends to establish a new platform that has highly sensitive NIFPs combined with portable and simple immunochromatographic test strips (ICTSs) for rapid detection of food-borne viruses. This will provide technical support for rapid detection on the port.

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