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1.
Virol J ; 21(1): 155, 2024 Jul 09.
Artículo en Inglés | MEDLINE | ID: mdl-38982509

RESUMEN

BACKGROUND: Canine enteric coronavirus (CECoV) is a prevalent infectious disease among dogs worldwide, yet its epidemiology in mainland China remains poorly understood. This systematic review and meta-analysis aimed to assess the prevalence of CECoV in mainland China and identify factors influencing its prevalence. METHODS: A comprehensive literature search was conducted across multiple databases for studies regarding CECoV epidemiology of China. PubMed, CNKI, Wanfang, and CQVIP were searched to obtain the studies. Eligible studies were selected based on predefined criteria, and data were extracted and synthesized. The quality the studies was assessed using the JBI assessment tool. Heterogeneity was checked using I2 test statistics followed by subgroup and sensitivity analysis. Subgroup analyses were performed to explore variations in CECoV prevalence by factors such as year, region, season, health status, social housing type, gender, age, and breed. Publication bias was assessed using a funnel plot and eggers test that was followed by trim and fill analysis. RESULTS: A total of 27 studies involving 21,034 samples were included in the meta-analysis. The overall pooled prevalence of CECoV in mainland China was estimated to be 0.30 (95% CI 0.24-0.37), indicating persistent circulation of the virus. Subgroup analyses revealed higher prevalence rates in younger dogs, multi-dog households, apparently healthy dogs, and certain regions such as southwest China. Seasonal variations were observed, with lower prevalence rates in summer. However, no significant differences in prevalence were found by gender. CONCLUSIONS: This study provides valuable insights into the epidemiology of CECoV in mainland China, highlighting the persistent circulation of the virus and identifying factors associated with higher prevalence rates. Continuous monitoring and surveillance efforts, along with research into accurate detection methods and preventive measures, are essential for the effective control of CECoV and mitigation of its potential impact on animal and human health.


Asunto(s)
Infecciones por Coronavirus , Coronavirus Canino , Enfermedades de los Perros , Animales , Perros , China/epidemiología , Prevalencia , Enfermedades de los Perros/epidemiología , Enfermedades de los Perros/virología , Infecciones por Coronavirus/epidemiología , Infecciones por Coronavirus/veterinaria , Infecciones por Coronavirus/virología , Coronavirus Canino/genética , Coronavirus Canino/aislamiento & purificación
2.
Diabetes Obes Metab ; 2024 Jun 25.
Artículo en Inglés | MEDLINE | ID: mdl-38925590

RESUMEN

AIM: To estimate the causal associations of type 2 diabetes and glycaemic traits with cognitive function, and to determine the potential mediating role of various brain imaging-derived phenotypes (IDPs) using Mendelian randomization (MR) analysis. METHODS: Using publicly available summary data, we performed a series of univariable and multivariable MR analysis to infer causality. Two-step MR analysis was then conducted in turn to evaluate the potential mediating role of each brain IDP. RESULTS: There was no evidence of causal associations between type 2 diabetes and cognitive function outcomes. Each 1-SD unit higher genetically predicted fasting proinsulin was associated with worse cognitive performance, as evidenced by both univariable (beta: -0.022; 95% confidence interval [CI] -0.038, -0.007) and multivariable MR analysis (beta: -0.027; 95% CI -0.048, -0.005). In addition, the univariable MR analysis identified several causal associations between fasting proinsulin and brain IDPs, and between brain IDPs and cognitive performance. The inverse association of genetically predicted fasting proinsulin with cognitive performance did not attenuate after adjusting for each of the brain IDPs in multivariable MR analysis. CONCLUSIONS: The present MR study provided credible evidence for the causal association between genetically predicted fasting proinsulin and cognitive function, informing a potential diagnosis and intervention target for patients with cognitive impairment. No significant brain IDP included in this study was identified as lying on the causal pathway from fasting proinsulin to cognitive performance. Future research involving more specific and granular brain IDP or other brain process is warranted to explore the potential biological mechanism underlying the association.

3.
Physiol Plant ; 176(3): e14371, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38837414

RESUMEN

The WRKY transcription factor (TF) genes form a large family in higher plants, with 72 members in Arabidopsis (Arabidopsis thaliana). The gaseous phytohormone ethylene (ET) regulates multiple physiological processes in plants. It is known that 1-aminocyclopropane-1-carboxylic acid (ACC) synthases (ACSs, EC 4.4.1.14) limit the enzymatic reaction rate of ethylene synthesis. However, whether WRKY TFs regulate the expression of ACSs and/or ACC oxidases (ACOs, EC 1.14.17.4) remains largely elusive. Here, we demonstrated that Arabidopsis WRKY22 positively regulated the expression of a few ACS and ACO genes, thus promoting ethylene production. Inducible overexpression of WRKY22 caused shorter hypocotyls without ACC treatment. A qRT-PCR screening demonstrated that overexpression of WRKY22 activates the expression of several ACS and ACO genes. The promoter regions of ACS5, ACS11, and ACO5 were also activated by WRKY22, which was revealed by a dual luciferase reporter assay. A follow-up chromatin immunoprecipitation coupled with quantitative PCR (ChIP-qPCR) and electrophoretic mobility shift assay (EMSA) showed that the promoter regions of ACS5 and ACO5 could be bound by WRKY22 directly. Moreover, wrky22 mutants had longer primary roots and more lateral roots than wild type, while WRKY22-overexpressing lines showed the opposite phenotype. In conclusion, this study revealed that WRKY22 acts as a novel TF activating, at least, the expression of ACS5 and ACO5 to increase ethylene synthesis and modulate root development.


Asunto(s)
Proteínas de Arabidopsis , Arabidopsis , Etilenos , Regulación de la Expresión Génica de las Plantas , Liasas , Raíces de Plantas , Factores de Transcripción , Arabidopsis/genética , Arabidopsis/crecimiento & desarrollo , Arabidopsis/metabolismo , Etilenos/metabolismo , Etilenos/biosíntesis , Factores de Transcripción/metabolismo , Factores de Transcripción/genética , Proteínas de Arabidopsis/genética , Proteínas de Arabidopsis/metabolismo , Raíces de Plantas/genética , Raíces de Plantas/crecimiento & desarrollo , Raíces de Plantas/metabolismo , Liasas/genética , Liasas/metabolismo , Aminoácido Oxidorreductasas/genética , Aminoácido Oxidorreductasas/metabolismo , Regiones Promotoras Genéticas/genética , Liasas de Carbono-Carbono/metabolismo , Liasas de Carbono-Carbono/genética , Activación Transcripcional/genética
4.
Arch Gynecol Obstet ; 310(1): 203-211, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38157028

RESUMEN

BACKGROUND: In recent years, syphilis is still the most common sexually transmitted disease worldwide. Pregnant women infected with syphilis can transmit it to the fetus in utero through mother-to-child transmission, which can directly lead to adverse pregnancy outcomes. The aim of this study was to investigate the associations between maternal syphilis infection and low birth weight and preterm birth in offspring. METHODS: Multinomial logistic regression model was used to analyze the associations between maternal syphilis infection and low birth weight and preterm birth, and to explore its stability through subgroup analysis. RESULTS: A total of 34,074 subjects were included in the study. After adjusting for potential confounders, maternal syphilis infection during pregnancy was associated with a 2.60-fold (95% CI 1.83-3.69) increased risk of low birth weight and a 1.91-fold (95% CI 1.35-2.69) increased risk of preterm birth. Subgroup analysis showed that the association was stable. CONCLUSION: We found that maternal syphilis infection during pregnancy was significantly associated with an increased risk of low birth weight and preterm birth. The implementation of reasonable syphilis screening and standardized treatment and follow-up of pregnant syphilis may have important practical significance in reducing the low birth weight and preterm birth rate in offspring.


Asunto(s)
Recién Nacido de Bajo Peso , Complicaciones Infecciosas del Embarazo , Nacimiento Prematuro , Sífilis , Humanos , Femenino , Embarazo , Complicaciones Infecciosas del Embarazo/epidemiología , Complicaciones Infecciosas del Embarazo/microbiología , Nacimiento Prematuro/epidemiología , Nacimiento Prematuro/etiología , Sífilis/epidemiología , Estudios Prospectivos , Adulto , Recién Nacido , Factores de Riesgo , Modelos Logísticos , Adulto Joven , China/epidemiología
5.
Child Care Health Dev ; 50(1): e13174, 2024 01.
Artículo en Inglés | MEDLINE | ID: mdl-37734724

RESUMEN

BACKGROUND: Although current treatments are effective in dealing with congenital heart disease (CHD), non-cardiac comorbidities such as attention-deficit hyperactivity disorder (ADHD) have received widespread attention. The purpose of this systematic review and meta-analysis is to assess the risk of ADHD associated with CHD. METHODS: The literature search was carried out systematically through eight different databases by the end of September 2022. Either a fixed- or a random-effects model was used to calculate the overall combined risk estimates. The heterogeneity of the studies was assessed by the Cochran Q test and the I2 statistic. Subgroup and sensitivity analyses were used to explore the potential sources of heterogeneity. RESULTS: Eleven studies were included in this study, which involved a total of 296 741 participants. Our study showed that the children with CHD were at a significantly increased risk of ADHD compared with the reference group (OR = 2.98, 95% CI: 2.18-4.08). The results were moderately heterogeneous. These factors including study design, geographic region and study quality were identified as the first three of the most relevant heterogeneity moderators by subgroup analyses. Sensitivity analysis yielded consistent results. There was no evidence of publication bias. CONCLUSIONS: The present study suggests that CHD children have a significantly higher risk of ADHD when compared with those without CHD. Early identification and intervention of ADHD is important to reduce its symptoms and adverse effects; therefore, clinicians should increase screening for ADHD in children with CHD and intervene promptly to reduce its effects whenever possible.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad , Cardiopatías Congénitas , Niño , Humanos , Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Proyectos de Investigación , Comorbilidad , Medición de Riesgo
6.
Int J Environ Health Res ; : 1-16, 2024 Apr 02.
Artículo en Inglés | MEDLINE | ID: mdl-38563461

RESUMEN

Epidemiologic studies have suggested a possible association between air pollution and chronic obstructive pulmonary disease (COPD), but it is controversial and difficult to draw causal inferences. Five methods were adopted to evaluate the causal relationship between air pollution and COPD in European and East Asian populations by using MR Analysis. A statistically significant causal relationship between PM2.5 and COPD was observed in the European population (OR: 2.34; 95% CI: 1.06-5.05; p = 0.033). Statistical significance remained after adjustment for confounding factors (adjusted OR: 2.28; 95% CI: 1.01-5.20; p = 0.048). In East Asian populations, PM2.5 absorbance, a proxy for black carbon, was statistically associated with COPD (OR: 1.41; 95% CI: 1.09-1.81; p = 0.007). We did not adjust for confounders in East Asian populations, as the association was independent of known confounders (e.g. smoking, respiratory tract infections, etc.). In conclusion, increased concentrations of PM2.5 and PM2.5 absorbance were associated with an increased risk of COPD.

7.
Development ; 147(16)2020 08 18.
Artículo en Inglés | MEDLINE | ID: mdl-32680933

RESUMEN

Reactive oxygen species (ROS) and salicylic acid (SA) are two factors regulating leaf senescence and defense against pathogens. However, how a single gene integrates both ROS and SA pathways remains poorly understood. Here, we show that Arabidopsis WRKY55 transcription factor positively regulates ROS and SA accumulation, and thus leaf senescence and resistance against the bacterial pathogen Pseudomonas syringaeWRKY55 is predominantly expressed in senescent leaves and encodes a transcriptional activator localized to nuclei. Both inducible and constitutive overexpression of WRKY55 accelerates leaf senescence, whereas mutants delay it. Transcriptomic sequencing identified 1448 differentially expressed genes, of which 1157 genes are upregulated by WRKY55 expression. Accordingly, the ROS and SA contents in WRKY55-overexpressing plants are higher than those in control plants, whereas the opposite occurs in mutants. Moreover, WRKY55 positively regulates defense against P. syringae Finally, we show that WRKY55 activates the expression of RbohD, ICS1, PBS3 and SAG13 by binding directly to the W-box-containing fragments. Taken together, our work has identified a new WRKY transcription factor that integrates both ROS and SA pathways to regulate leaf senescence and pathogen resistance.


Asunto(s)
Proteínas de Arabidopsis/biosíntesis , Arabidopsis/metabolismo , Regulación de la Expresión Génica de las Plantas , Hojas de la Planta/metabolismo , Especies Reactivas de Oxígeno/metabolismo , Ácido Salicílico/metabolismo , Factores de Transcripción/biosíntesis , Arabidopsis/genética , Arabidopsis/microbiología , Proteínas de Arabidopsis/genética , Enfermedades de las Plantas/microbiología , Hojas de la Planta/genética , Hojas de la Planta/microbiología , Pseudomonas syringae , Factores de Transcripción/genética
8.
BMC Med Inform Decis Mak ; 23(1): 244, 2023 10 30.
Artículo en Inglés | MEDLINE | ID: mdl-37904123

RESUMEN

BACKGROUND: The addition of coronary artery calcium score (CACS) to prediction models has been verified to improve performance. Machine learning (ML) algorithms become important medical tools in an era of precision medicine, However, combined utility by CACS and ML algorithms in hypertensive patients to forecast obstructive coronary artery disease (CAD) on coronary computed tomography angiography (CCTA) is rare. METHODS: This retrospective study was composed of 1,273 individuals with hypertension and without a history of CAD, who underwent dual-source computed tomography evaluation. We applied five ML algorithms, coupled with clinical factors, imaging parameters, and CACS to construct predictive models. Moreover, 80% individuals were randomly taken as a training set on which 5-fold cross-validation was done and the remaining 20% were regarded as a validation set. RESULTS: 16.7% (212 out of 1,273) of hypertensive patients had obstructive CAD. Extreme Gradient Boosting (XGBoost) posted the biggest area under the receiver operator characteristic curve (AUC) of 0.83 in five ML algorithms. Continuous net reclassification improvement (NRI) was 0.55 (95% CI (0.39-0.71), p < 0.001), and integrated discrimination improvement (IDI) was 0.04 (95% CI (0.01-0. 07), p = 0.0048) when the XGBoost model was compared with traditional Models. In the subgroup analysis stratified by hypertension levels, XGBoost still had excellent performance. CONCLUSION: The ML model incorporating clinical features and CACS may accurately forecast the presence of obstructive CAD on CCTA among hypertensive patients. XGBoost is superior to other ML algorithms.


Asunto(s)
Enfermedad de la Arteria Coronaria , Hipertensión , Humanos , Enfermedad de la Arteria Coronaria/complicaciones , Enfermedad de la Arteria Coronaria/diagnóstico por imagen , Calcio , Angiografía Coronaria/métodos , Estudios Retrospectivos , Factores de Riesgo , Valor Predictivo de las Pruebas , Algoritmos , Hipertensión/complicaciones , Hipertensión/epidemiología , Aprendizaje Automático
9.
BMC Pregnancy Childbirth ; 22(1): 88, 2022 Jan 31.
Artículo en Inglés | MEDLINE | ID: mdl-35100977

RESUMEN

BACKGROUND: MTHFD1 gene may affect the embryonic development by elevated homocysteine levels, DNA synthesis and DNA methylation, but limited number of genetic variants of MTHFD1 gene was focused on the association with congenital heart disease (CHD). This study examined the role of MTHFD1 gene and maternal smoking on infant CHD risk, and investigated their interaction effects in Chinese populations. METHODS: A case-control study of 464 mothers of CHD infants and 504 mothers of health controls was performed. The exposures of interest were maternal tobacco exposure, single nucleotide polymorphisms (SNPs) of maternal MTHFD1 gene. The logistic regression model was used for accessing the strength of association. RESULTS: Mothers exposed to secondhand smoke during 3 months before pregnancy (adjusted odds ratio [aOR] = 1.56; 95% confidence interval [CI]: 1.13-2.15) and in the first trimester of pregnancy (aOR = 2.24; 95%CI: 1.57-3.20) were observed an increased risk of CHD. Our study also found that polymorphisms of maternal MTHFD1 gene at rs1950902 (AA vs. GG: aOR = 1.73, 95% CI: 1.01-2.97), rs2236222 (GG vs. AA: aOR = 2.38, 95% CI: 1.38-4.12), rs1256142 (GA vs.GG: aOR = 1.57, 95% CI: 1.01-2.45) and rs11849530 (GG vs. AA: aOR = 1.68, 95% CI: 1.02-2.77) were significantly associated with higher risk of CHD. However, we did not observe a significant association between maternal MTHFD1 rs2236225 and offspring CHD risk. Furthermore, we found the different degrees of interaction effects between polymorphisms of the MTHFD1 gene including rs1950902, rs2236222, rs1256142, rs11849530 and rs2236225, and maternal tobacco exposure. CONCLUSIONS: Maternal polymorphisms of MTHFD1 gene, maternal tobacco exposure and their interactions are significantly associated with the risk of CHD in offspring in Han Chinese populations. However, more studies in different ethnic populations with a larger sample and prospective designs are required to confirm our findings. TRIAL REGISTRATION: Registration number: ChiCTR1800016635 .


Asunto(s)
Cardiopatías Congénitas/genética , Enfermedades del Recién Nacido/genética , Metilenotetrahidrofolato Deshidrogenasa (NADP)/genética , Antígenos de Histocompatibilidad Menor/genética , Polimorfismo de Nucleótido Simple , Adulto , Pueblo Asiatico , Estudios de Casos y Controles , China/epidemiología , Femenino , Cardiopatías Congénitas/inducido químicamente , Humanos , Recién Nacido , Enfermedades del Recién Nacido/inducido químicamente , Modelos Logísticos , Exposición Materna/efectos adversos , Embarazo , Contaminación por Humo de Tabaco/efectos adversos , Fumar Tabaco/efectos adversos
10.
Zhongguo Dang Dai Er Ke Za Zhi ; 24(7): 797-805, 2022 Jul 15.
Artículo en Zh | MEDLINE | ID: mdl-35894196

RESUMEN

OBJECTIVES: To study the association of maternal methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) and methylenetetrahydrofolate dehydrogenase 2 (MTHFD2) gene polymorphisms with congenital heart disease (CHD) in offspring. METHODS: A hospital-based case-control study was conducted. The mothers of 683 children with CHD alone who attended Hunan Children's Hospital, from November 2017 to March 2020 were enrolled as the case group, and the mothers of 740 healthy children who attended the same hospital during the same period and did not have any deformity were enrolled as the control group. A questionnaire survey was performed to collect related exposure data, and then venous blood samples (5 mL) were collected from the mothers to detect MTHFD1 and MTHFD2 gene polymorphisms. A multivariate logistic regression analysis was used to evaluate the association of MTHFD1 and MTHFD2 gene polymorphisms with CHD. The four-gamete test in Haploview 4.2 software was used to construct haplotypes and evaluate the association between haplotypes and CHD. The generalized multifactor dimensionality reduction method and logistic regression analysis were used to examine gene-gene interaction and its association with CHD. RESULTS: The multivariate logistic regression analysis showed that maternal MTHFD1 gene polymorphisms at rs11849530 (GA vs AA: OR=1.49; GG vs AA: OR=2.04) andat rs1256142 (GA vs GG: OR=2.34; AA vs GG: OR=3.25) significantly increased the risk of CHD in offspring (P<0.05), while maternal MTHFD1 gene polymorphisms at rs1950902 (AA vs GG: OR=0.57) and MTHFD2 gene polymorphisms at rs1095966 (CA vs CC: OR=0.68) significantly reduced the risk of CHD in offspring (P<0.05). The haplotypes of G-G-G (OR=1.86) and G-A-G (OR=1.35) in mothers significantly increased the risk of CHD in offspring (P<0.05). The gene-gene interaction analyses showed that the first-order interaction between MTHFD1 rs1950902 and MTHFD1 rs2236222 and the second-order interaction involving MTHFD1 rs1950902, MTHFD1 rs1256142, and MTHFD2 rs1095966 might be associated with risk of CHD (P<0.05). CONCLUSIONS: Maternal MTHFD1 and MTHFD2 gene polymorphisms and their haplotypes, as well as the interaction between MTHFD1 rs1950902 and MTHFD1 rs2236222 and between MTHFD1 rs1950902, MTHFD1 rs1256142, and MTHFD2 rs1095966, are associated with the risk of CHD in offspring.


Asunto(s)
Aminohidrolasas , Cardiopatías Congénitas , Metilenotetrahidrofolato Deshidrogenasa (NADP) , Enzimas Multifuncionales , Aminohidrolasas/genética , Estudios de Casos y Controles , Niño , Femenino , Predisposición Genética a la Enfermedad , Cardiopatías Congénitas/genética , Humanos , Metilenotetrahidrofolato Deshidrogenasa (NADP)/genética , Antígenos de Histocompatibilidad Menor/genética , Madres , Enzimas Multifuncionales/genética , Polimorfismo de Nucleótido Simple , Factores de Riesgo
11.
Plant J ; 104(1): 171-184, 2020 09.
Artículo en Inglés | MEDLINE | ID: mdl-32634860

RESUMEN

Leaf senescence represents the final stage of leaf growth and development, and its onset and progression are strictly regulated; however, the underlying regulatory mechanisms remain largely unknown. In this study we found that WRKY42 was highly induced during leaf senescence. Loss-of-function wrky42 mutants showed delayed leaf senescence whereas the overexpression of WRKY42 accelerated senescence. Transcriptome analysis revealed 2721 differentially expressed genes between wild-type and WRKY42-overexpressing plants, including genes involved in salicylic acid (SA) and reactive oxygen species (ROS) synthesis as well as several senescence-associated genes (SAGs). Moreover, WRKY42 activated the transcription of isochorismate synthase 1 (ICS1), respiratory burst oxidase homolog F (RbohF) and a few SAG genes. Consistently, the expression of these genes was reduced in wrky42 mutants but was markedly increased in transgenic Arabidopsis overexpressing WRKY42. Both in vitro electrophoretic mobility shift assays (EMSAs) and in vivo chromatin immunoprecipitation and dual luciferase assays demonstrated that WRKY42 directly bound to the promoters of ICS1 and RbohF, as well as a few SAGs, to activate their expression. Genetic analysis further showed that mutations of ICS1 and RbohF suppressed the early senescence phenotype evoked by WRKY42 overexpression. Thus, we have identified WRKY42 as a novel transcription factor positively regulating leaf senescence by directly activating the transcription of ICS1, RbohF and SAGs, without any seed yield penalty.


Asunto(s)
Proteínas de Arabidopsis/fisiología , Arabidopsis/metabolismo , Reguladores del Crecimiento de las Plantas/metabolismo , Hojas de la Planta/metabolismo , Especies Reactivas de Oxígeno/metabolismo , Ácido Salicílico/metabolismo , Factores de Transcripción/fisiología , Envejecimiento/genética , Envejecimiento/metabolismo , Arabidopsis/fisiología , Proteínas de Arabidopsis/metabolismo , Perfilación de la Expresión Génica , Regulación de la Expresión Génica de las Plantas , Genes de Plantas/fisiología , Hojas de la Planta/fisiología , Factores de Transcripción/metabolismo
12.
BMC Cardiovasc Disord ; 21(1): 298, 2021 06 14.
Artículo en Inglés | MEDLINE | ID: mdl-34126931

RESUMEN

BACKGROUND: Although many studies showed that the risk of congenital heart disease (CHD) was closely related to genetic factors, the exact pathogenesis is still unknown. Our study aimed to comprehensively assess the association of single nucleotide polymorphisms (SNPs) of maternal MTHFR gene with risk of CHD and its three subtypes in offspring. METHODS: A case-control study involving 569 mothers of CHD cases and 652 health controls was conducted. Thirteen SNPs were detected and analyzed. RESULTS: Our study showed that genetic polymorphisms of maternal MTHFR gene at rs4846052 and rs1801131 were significantly associated with risk of CHD in the homozygote comparisons (TT vs. CC at rs4846052: OR = 7.62 [95%CI 2.95-19.65]; GG vs. TT at rs1801131: OR = 5.18 [95%CI 2.77-9.71]). And six haplotypes of G-C (involving rs4846048 and rs2274976), A-C (involving rs1801133 and rs4846052), G-T (involving rs1801133 and rs4846052), G-T-G (involving rs2066470, rs3737964 and rs535107), A-C-G (involving rs2066470, rs3737964 and rs535107) and G-C-G (involving rs2066470, rs3737964 and rs535107) were identified to be significantly associated with risk of CHD. Additionally, we observed that a two-locus model involving rs2066470 and rs1801131 as well as a three-locus model involving rs227497, rs1801133 and rs1801131 were significantly associated with risk of CHD in the gene-gene interaction analyses. For three subtypes including atrial septal defect, ventricular septal defect and patent ductus arteriosus, similar results were observed. CONCLUSIONS: Our study indicated genetic polymorphisms of maternal MTHFR gene were significantly associated with risk of fetal CHD in the Chinese population. Additionally, there were significantly interactions among different SNPs on risk of CHD. However, how these SNPs affect the development of fetal heart remains unknown, and more studies in different ethnic populations and with a larger sample are required to confirm these findings.


Asunto(s)
Cardiopatías Congénitas/genética , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Polimorfismo de Nucleótido Simple , Adulto , Estudios de Casos y Controles , China , Femenino , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Haplotipos , Cardiopatías Congénitas/diagnóstico , Heterocigoto , Homocigoto , Humanos , Desequilibrio de Ligamiento , Fenotipo , Embarazo , Medición de Riesgo , Factores de Riesgo
13.
Eur J Pediatr ; 180(10): 3181-3190, 2021 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-33913025

RESUMEN

Although it is generally recognized that genetic and environmental factors are associated with the risk of congenital heart disease (CHD), the mechanism remains largely uncertain. This study aimed to investigate the association of maternal folate use, the time when folate use was started, and polymorphisms of the reduced folate carrier (RFC1) gene with the risk of CHD in offspring of Chinese descent, which can help provide new insight into the etiology of folate-related birth defects. A case-control study of 683 mothers of CHD patients and 740 mothers of healthy children was performed. The present study showed that mothers who did not use folate were at a significantly increased risk of CHD (OR=2.04; 95% CI: 1.42-2.93). When compared with those who started using folate prior to conception, mothers who started using folate from the first trimester of pregnancy (OR=1.90; 95% CI: 1.43-2.54) or from the second trimester of pregnancy (OR=8.92; 95% CI: 4.20-18.97) had a significantly higher risk of CHD. Maternal RFC1 gene polymorphisms at rs2236484 (AG vs AA: OR=1.79 [95% CI: 1.33-2.39]; GG vs AA: OR=1.64 [95% CI: 1.15-2.35]) and rs2330183 (CT vs CC: OR=1.54 [95% CI: 1.14-2.09]) were also significantly associated with CHD risk. Additionally, the risk of CHD was significantly decreased among mothers who had variant genotypes but used folate when compared with those who had variant genotypes and did not use folate.Conclusion: In those of Chinese descent, maternal folate use and the time when use started are significantly associated with the risk of CHD in offspring. Furthermore, maternal folate supplementation may help to offset some of the risks of CHD in offspring due to maternal RFC1 genetic variants. What is Known: • Folate use could help prevent CHD, but the relationship between the time when folate use is started and CHD has not received sufficient attention. • Studies have assessed the associations of folate metabolism-related genes with CHD, but genes involved in cellular transportation of folate, such as the RFC1 gene, have not garnered enough attention. What is New: • In those of Chinese descents, the time when folate use is started is significantly associated with the risk of CHD in offspring. • Maternal RFC1 polymorphisms were significantly associated with the risk of CHD. • Folate supplementation may help to offset some risks of CHD due to RFC1 genetic variants.


Asunto(s)
Ácido Fólico , Cardiopatías Congénitas , Proteína Portadora de Folato Reducido/genética , Estudios de Casos y Controles , Femenino , Predisposición Genética a la Enfermedad , Cardiopatías Congénitas/genética , Humanos , Madres , Polimorfismo Genético , Factores de Riesgo
14.
BMC Plant Biol ; 19(1): 298, 2019 Jul 08.
Artículo en Inglés | MEDLINE | ID: mdl-31286900

RESUMEN

BACKGROUND: Homeodomain-leucine zipper (HD-ZIP) transcription factors play important roles in the growth, development and stress responses of plants, including (presumably) physic nut (Jatropha curcas), which has high drought and salinity tolerance. However, although physic nut's genome has been released, there is little knowledge of the functions, expression profiles and evolutionary histories of the species' HD-ZIP genes. RESULTS: In this study, 32 HD-ZIP genes were identified in the physic nut genome (JcHDZs) and divided into four groups (I-IV) based on phylogenetic analysis with homologs from rice, maize and Arabidopsis. The analysis also showed that most of the JcHDZ genes were closer to members from Arabidopsis than to members from rice and maize. Of the 32 JcHDZ genes, most showed differential expression patterns among four tissues (root, stem cortex, leaf, and seed). Expression profile analysis based on RNA-seq data indicated that 15 of the JcHDZ genes respond to at least one abiotic stressor (drought and/or salinity) in leaves at least at one time point. Transient expression of a JcHDZ16-YFP fusion protein in Arabidopsis protoplasts cells showed that JcHDZ16 is localized in the nucleus. In addition, rice seedlings transgenically expressing JcHDZ16 had lower proline contents and activities of antioxidant enzymes (catalase and superoxide dismutase) together with higher relative electrolyte leakage and malondialdehyde contents under salt stress conditions (indicating higher sensitivity) than wild-type plants. The transgenic seedlings also showed increased sensitivity to exogenous ABA, and increases in the transcriptional abundance of several salt stress-responsive genes were impaired in their responses to salt stress. Further data on JcHDZ16-overexpressing plants subjected to salt stress treatment verified the putative role of JcHDZ genes in salt stress responses. CONCLUSION: Our results may provide foundations for further investigation of functions of JcHDZ genes in responses to abiotic stress, and promote application of JcHDZ genes in physic nut breeding.


Asunto(s)
Jatropha/genética , Oryza/genética , Proteínas de Plantas/genética , Factores de Transcripción/genética , Estudio de Asociación del Genoma Completo , Jatropha/metabolismo , Oryza/metabolismo , Proteínas de Plantas/metabolismo , Plantas Modificadas Genéticamente/genética , Plantas Modificadas Genéticamente/metabolismo , Factores de Transcripción/metabolismo , Transcriptoma
15.
Molecules ; 23(8)2018 Jul 26.
Artículo en Inglés | MEDLINE | ID: mdl-30049984

RESUMEN

During ultra high voltage (UHV) transmission, the discharge caused by high intensity electric fields aggravates the aging process of external insulation materials used for composite insulators. The microstructural characteristics of its base material polymer-methyl vinyl silicone rubber-are the key basis for the performance of insulation materials under electric field exposure. Based on molecular dynamics simulations, a molecular model of methyl vinyl silicone rubber was established. Mechanisms influencing the microstructure evolution under electric fields had been studied at the atomic level. The results showed that the initial reaction characteristics of silicone rubber molecules involve the violent vibrated of all the methyl and vinyl atoms, and shortening of the chemical bonds. The neighboring groups were close to each other and generated different amounts of -Si-Si- bonds. This promoted the helical shrinkage of the molecule, and protrusion of the middle of the molecule which presented an inverted U shape. The high electric field greatly reduced the total energy of molecules, and the potential energy in particular was more severely destroyed, resulting in degradation of its structure. Besides, as the electric field intensity increased, the elastic modulus of the molecule gradually increased. It was shown that high electric fields would make the stiffness of silicone rubber become larger, and the brittleness to become stronger, which reduced the mechanical properties of materials, accelerating its aging. The results provide a theoretical basis for establishing the connection between the micro appearance and macro characteristics of materials, as well as reference values for the optimization of base materials used for making composite insulators.


Asunto(s)
Electricidad , Conformación Molecular , Simulación de Dinámica Molecular , Elastómeros de Silicona/química , Algoritmos , Módulo de Elasticidad , Cinética , Estructura Molecular , Termodinámica
16.
World J Clin Cases ; 12(8): 1510-1516, 2024 Mar 16.
Artículo en Inglés | MEDLINE | ID: mdl-38576806

RESUMEN

BACKGROUND: The prognosis for patients with advanced metastatic cervix cancer (MCC) is poor, and this disease continues to pose a considerable therapeutic challenge. Despite the administration of first-line regimens consisting of cisplatin, paclitaxel, and bevacizumab, survival rates for patients with metastasis remain poor. The emergence of bispecific antibodies (BsAbs) offers a novel treatment option for patients diagnosed with MCC. CASE SUMMARY: In this report, we present a patient with MCC who was treated with cadonilimab monotherapy at a dose of 6 mg/kg every two weeks after chemotherapy was proven to be intolerable. The patient exhibited a sustained complete response for a duration of 6 months, demonstrating an optimistic outlook. CONCLUSION: This case illustrates the considerable efficacy of cadonilimab for treating advanced MCC. Therefore, BsAb therapy is a promising strategy for effectively treating patients with advanced MCC and should be considered as an option when patients are intolerant to standard chemotherapy.

17.
Nutrients ; 16(13)2024 Jun 24.
Artículo en Inglés | MEDLINE | ID: mdl-38999753

RESUMEN

This study aimed to explore the association of maternal diet, infant MTHFR gene polymorphisms, and their interactions with the risk of ventricular septal defects (VSDs). This case-control study recruited 448 mothers of VSD children and 620 mothers of healthy counterparts. Multivariable-adjusted logistic regression models were constructed to examine the association between maternal dietary habits during the first trimester of gestation, MTHFR gene polymorphisms, and VSD. Gene-environment interaction effects were analyzed through logistic regression models, with false discovery rate p-value (FDR_p) < 0.05. Maternal excessive intake of fermented bean curd (OR = 2.00, 95%CI: 1.59-2.52), corned foods (OR = 2.23, 1.76-2.84), fumatory foods (OR = 1.75, 1.37-2.23), grilled foods (OR = 1.34, 1.04-1.72), and fried foods (OR = 1.80, 1.42-2.27) was associated with an increased risk of VSD. Regular intake of fish and shrimp (OR = 0.42, 0.33-0.53), fresh eggs (OR = 0.58, 0.44-0.75), soy products (OR = 0.69, 0.56-0.85), and dairy products (OR = 0.71, 0.59-0.85) was found to reduce the occurrence of VSD. Moreover, MTHFR gene polymorphisms at rs2066470 (homozygous: OR = 4.28, 1.68-10.90), rs1801133 (homozygous: OR = 2.28, 1.39-3.74), and rs1801131 (heterozygous: OR = 1.75, 1.24-2.47; homozygous: OR = 3.45, 1.50-7.95) elevated offspring susceptibility to VSDs. Furthermore, significant interactions of MTHFR polymorphisms with maternal dietary habits were observed, encompassing corned foods, fermented bean curd, fried foods, and grilled foods. Maternal dietary habits; MTHFR polymorphisms at rs2066470, rs1801131, and rs1801133; and their interactions were significantly associated with the occurrence of VSDs in offspring.


Asunto(s)
Dieta , Conducta Alimentaria , Defectos del Tabique Interventricular , Fenómenos Fisiologicos Nutricionales Maternos , Metilenotetrahidrofolato Reductasa (NADPH2) , Humanos , Femenino , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Estudios de Casos y Controles , Embarazo , Defectos del Tabique Interventricular/genética , Defectos del Tabique Interventricular/epidemiología , Adulto , Masculino , Interacción Gen-Ambiente , Polimorfismo de Nucleótido Simple , Lactante , Predisposición Genética a la Enfermedad , Factores de Riesgo , Recién Nacido
18.
Front Aging Neurosci ; 16: 1425577, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39026988

RESUMEN

Background: With the increase in the aging population worldwide, Alzheimer's disease has become a rapidly increasing public health concern. In the Global Burden of Disease Study 2019, there are three risk factors judged to have evidence for a causal link to Alzheimer's disease and other dementias: smoking, high body-mass index (HBMI), and high fasting plasma glucose (HFPG). Objective: This study aimed to analyze trends in AD mortality and the relevant burden across China from 1990 to 2019, as well as their correlation with age, period, and birth cohort. Methods: The data were extracted from the GBD 2019. Trends in AD mortality attributable to metabolic risks (HFPG and HBMI) and smoking were analyzed using Joinpoint regression. The age-period-cohort (APC) model was used to evaluate cohort and period effects. Results: From 1990 to 2019, the overall age-standardized mortality rate of AD increased, especially in women. There was an increase in AD mortality due to smoking in the net drift, and it was more significant in women (0.46, 95%CI = [0.09, 0.82]) than men (-0.03, 95%CI = [-0.11, 0.05]). For the cause of HFPG, the net drift values for men and women were 0.82% and 0.43%. For HBMI, the values were 3.14% and 2.76%, respectively, reflecting substantial increases in AD mortality. Conclusion: Time trends in AD mortality caused by metabolic risks and smoking in China from 1990 to 2019 have consistently increased. Therefore, it is necessary to prevent excessive weight gain and obesity during the later stages of life, especially for females.

19.
BMJ Paediatr Open ; 8(1)2024 01 17.
Artículo en Inglés | MEDLINE | ID: mdl-38233082

RESUMEN

BACKGROUND: The purpose of this study was to explore the association between anaemia during early pregnancy and the risk of neonatal outcomes. METHODS: We collected clinical data from pregnant women (≥18 years) who received their first antenatal care between 8 and 14 weeks of gestation in Hunan Provincial Maternal and Child Health Care Hospital. Multiple logistic regression models and restricted cubic spline regression models were used to analyse the association between anaemia during early pregnancy and the risk of neonatal outcomes. In addition, sensitivity analysis was further performed to assess the robustness of the results. RESULTS: The prospective cohort study ultimately included 34 087 singleton pregnancies. In this study, the rate of anaemia during early pregnancy was 16.3%. Our data showed that there was a positive relationship between the rate of preterm birth, low birth weight as well as small for gestational age (SGA) and the severity of maternal anaemia (Ptrend<0.05). After adjustment, the association of early pregnancy anaemia and haemoglobin (Hb) levels with the risk of preterm birth (mild anaemia adjusted OR (aOR) 1.37 (95% CI 1.25 to 1.52), moderate anaemia aOR 1.54 (95% CI 1.35 to 1.76) and severe anaemia aOR 4.03 (95% CI 2.67 to 6.08), respectively), low birth weight (mild anaemia aOR 1.61 (95% CI 1.44 to 1.79), moderate anaemia aOR 2.01 (95% CI 1.75 to 2.30) and severe anaemia aOR 6.11 (95% CI 3.99 to 9.36), respectively) and SGA (mild anaemia aOR 1.37 (95% CI 1.25 to 1.52), moderate anaemia aOR 1.54 (95% CI 1.35 to 1.76) and severe anaemia aOR 2.61 (95% CI 1.74 to 4.50), respectively; Pnon-linear<0.05) was observed. However, no association was found between early pregnancy anaemia or Hb levels and the risk of congenital malformations. Sensitivity analysis verified the stability of the results. CONCLUSIONS: Maternal anaemia during early pregnancy was associated with an increased risk of preterm birth, low birth weight and SGA and their rates may increase with the severity of maternal anaemia. TRIAL REGISTRATION NUMBER: ChiCTR1800016635.


Asunto(s)
Anemia , Nacimiento Prematuro , Niño , Embarazo , Recién Nacido , Femenino , Humanos , Resultado del Embarazo/epidemiología , Nacimiento Prematuro/epidemiología , Estudios Prospectivos , Recién Nacido de Bajo Peso , Anemia/epidemiología , Retardo del Crecimiento Fetal
20.
Front Pediatr ; 12: 1167460, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38348213

RESUMEN

Objective: To evaluate the prevalence and associated factors of undernutrition among children with congenital heart disease (CHD) who have not undergone surgeries in China. Methods: This cross-sectional study included 734 CHD children along with their parents. The outcome of interest was undernutrition, including underweight, wasting, and stunting, defined as Z-scores (i.e., weight-for-age, weight-for-height, and height-for-age) ≤-2, according to the World Health Organization (WHO) growth standard. Exposures of interest, containing demographics, obstetric factors, maternal dietary factors, parents' life behaviors and habits, birth-related factors, cardiac-related factors, and preoperative factors, were analyzed using a multivariate logistic regression model to test their associations with undernutrition in CHD children. Results: Overall, 36.1%, 29.7%, and 21.3% of cases were underweight, wasted, and stunted, respectively. Multivariate logistic regression indicated that underweight was associated with demographic factors (including parents' occupational status, family income, and maternal body mass index pre-pregnancy), low birth weight (OR = 4.60, 2.76-7.70), pulmonary hypertension (OR = 4.46, 3.09-6.43), and pneumonia (OR = 1.88, 1.28-2.76). Artificially-fed children were 2.34 (1.36-4.01) times more likely to be underweight. Occupied mothers (OR = 0.62, 0.44-0.88) and fathers (OR = 0.49, 0.26-0.92) served as protective factors, while mothers having gestational complications (OR = 1.56, 1.11-2.18) and exposed to noisy environment (OR = 1.64, 1.11-2.42) during this pregnancy, and pulmonary hypertension (OR = 3.21, 2.30-4.49) increased the chance of wasting in offspring. The odds of being stunted were greater in families with >2 children (OR = 1.88, 1.13-3.14), placental abruption during this pregnancy (OR = 25.15, 2.55-247.89), preterm births (OR = 1.84, 1.02-3.31), low birth weight (OR = 3.78, 2.16-6.62), pulmonary hypertension (OR = 2.35, 1.56-3.53) and pneumonia (OR = 1.93, 1.28-2.90). In subgroup analyses, the associations differed between patients with different feeding patterns (breastfeeding vs. non-breastfeeding), CHD classifications (cyanotic vs. acyanotic), and prematurity (preterm vs. non-preterm). Conclusion: Undernutrition is common in preoperative CHD children. Familial demographics, maternal factors (including having gestational complications and exposure to noisy environment during pregnancy), and patient-related factors (encompassing preterm births, low birth weight, pulmonary hypertension, pneumonia, and feeding pattern) were found to contribute to undernutrition in CHD cases. However, associated factors among the three subgroups of distinct feeding patterns, CHD categorization, and prematurity exhibited varied outcomes, suggesting the necessity for targeted interventions.

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