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BACKGROUND: The Rh blood group system is characterized by its complexity and polymorphism, encompassing 56 different antigens. Accurately predicting the presence of the C antigen using genotyping methods has been challenging. The objective of this study was to evaluate the accuracy of various genotyping methods for predicting the Rh C and to identify a suitable method for the Chinese Han population. METHODS: In total, 317 donors, consisting 223 D+ (including 20 with the Del phenotype) and 94 D- were randomly selected. For RHC genotyping, 48C and 109bp insertion were detected on the Real-time PCR platform and -292 substitution was analyzed via restriction fragment length polymorphism (RFLP). Moreover, the promoter region of the RHCE gene was sequenced to search for other nucleotide substitutions between RHC and RHc. Agreement between prediction methods was evaluated using the Kappa statistic, and comparisons between methods were conducted via the χ2 test. RESULTS: The analysis revealed that the 48C allele, 109bp insertion, a specific pattern observed in RFLP results, and wild-type alleles of seven single nucleotide polymorphisms (SNPs) were in strong agreement with the Rh C, with Kappa coefficients exceeding 0.8. However, there were instances of false positives or false negatives (0.6% false negative rate for 109bp insertion and 5.4-8.2% false positive rates for other methods). The 109bp insertion method exhibited the highest accuracy in predicting the Rh C, at 99.4%, compared to other methods (P values≤0.001). Although no statistical differences were found among other methods for predicting Rh C (P values>0.05), the accuracies in descending order were 48C (94.6%) > rs586178 (92.7%) > rs4649082, rs2375313, rs2281179, rs2072933, rs2072932, and RFLP (92.4%) > rs2072931 (91.8%). CONCLUSIONS: None of the methods examined can independently and accurately predict the Rh C. However, the 109bp insertion test demonstrated the highest accuracy for predicting the Rh C in the Chinese Han population. Utilizing the 109bp insertion test in combination with other methods may enhance the accuracy of Rh C prediction.
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Povo Asiático , Técnicas de Genotipagem , Polimorfismo de Nucleotídeo Único , Sistema do Grupo Sanguíneo Rh-Hr , Humanos , Sistema do Grupo Sanguíneo Rh-Hr/genética , Povo Asiático/genética , Técnicas de Genotipagem/métodos , China , Genótipo , Alelos , Polimorfismo de Fragmento de Restrição , Frequência do Gene , Regiões Promotoras Genéticas , População do Leste AsiáticoRESUMO
BACKGROUND: Lung cancer stands as the second most prevalent malignant neoplasm worldwide. Addressing the underlying mechanisms propelling the progression of non-small cell lung cancer is of paramount importance. In this study, we have elucidated the pivotal role of PHF12 in this context. MATERIALS AND METHODS: We harnessed clinical lung cancer tissue samples and non-small cell lung cancer cell lines to discern the expression pattern of PHF12. In vitro assays probing cell proliferation were conducted to substantiate the functional impact of PHF12. Furthermore, an in vivo Xenograft model was employed to dissect the role of PHF12. Employing ChIP assays and qRT-PCR, we delved into the intricate binding dynamics between PHF12 and HDAC1. Mechanistic insights into the PHF12-HDAC1 axis in lung cancer progression were pursued via RNA-seq and GSEA analyses. RESULTS: Notably, PHF12 exhibited a substantial upregulation within tumor tissue, concomitant with its correlation to HDAC1. The trilogy of cell proliferation assays, transwell assays, and the Xenograft model collectively underscored the promoting influence of PHF12 on lung cancer proliferation, both in vitro and in vivo. The ChIP assay unveiled the transcriptional regulatory role of PHF12 in governing HDAC1 expression. This correlation extended to both mRNA and protein levels. PHF12 promotes NSCLC progression through regulating HDCA1 expression. Intriguingly, the rescue of function within NSCLC cell lines post PHF12 knockdown was achievable through HDAC1 overexpression. Additionally, our findings unveiled the capacity of the PHF12-HDAC1 axis to activate the EGFR/AKT signaling pathway, thereby further corroborating its significance in lung cancer progression. CONCLUSION: Our study identified PHF12 as an oncogenic role in lung cancer proliferation and migration for the first time. PHF12 transcriptionally regulate HDAC1 and activate EGFR/AKT signaling pathway in NSCLC progression. PHF12 may serve as an important target in lung cancer therapy.
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Carcinogênese , Carcinoma Pulmonar de Células não Pequenas , Proliferação de Células , Receptores ErbB , Regulação Neoplásica da Expressão Gênica , Histona Desacetilase 1 , Neoplasias Pulmonares , Proteínas Proto-Oncogênicas c-akt , Transdução de Sinais , Fatores de Transcrição , Animais , Feminino , Humanos , Camundongos , Carcinogênese/genética , Carcinogênese/patologia , Carcinoma Pulmonar de Células não Pequenas/patologia , Carcinoma Pulmonar de Células não Pequenas/genética , Carcinoma Pulmonar de Células não Pequenas/metabolismo , Linhagem Celular Tumoral , Proteínas de Ligação a DNA/metabolismo , Proteínas de Ligação a DNA/genética , Receptores ErbB/metabolismo , Receptores ErbB/genética , Histona Desacetilase 1/metabolismo , Histona Desacetilase 1/genética , Neoplasias Pulmonares/patologia , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/metabolismo , Camundongos Nus , Proteínas Proto-Oncogênicas c-akt/metabolismo , Fatores de Transcrição/metabolismo , Fatores de Transcrição/genéticaRESUMO
Induced pluripotent stem cells (iPSCs) generated from somatic cell sources are pluripotent and capable of indefinite expansion in vitro. They provide an unlimited source of cells that can be differentiated into lung progenitor cells for potential clinical use in pulmonary regenerative medicine. This review gives a comprehensive overview of recent progress toward the use of iPSCs to generate proximal and distal airway epithelial cells and mix lung organoids. Furthermore, their potential applications and future challenges for the field are discussed, with a focus on the technological hurdles that must be cleared before stem cell therapeutics can be used for clinical treatment.
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Células-Tronco Pluripotentes Induzidas , Pulmão , Células Epiteliais , Organoides , Diferenciação CelularRESUMO
BACKGROUND AND OBJECTIVES: B(A) phenotype is usually formed by nucleotide mutations in the ABO*B.01 allele, with their products exhibiting glycosyltransferases (GTs) A and B overlapping functionality. We herein report a B(A) allele found in a Chinese family. MATERIALS AND METHODS: The entire ABO genes of the probands, including flanking regulatory regions, were sequenced through PacBio third-generation long-read single-molecule real-time sequencing. 3D molecular models of the wild-type and mutant GTB were generated using the DynaMut web server. The effect of the mutation on the enzyme function was predicted by PROVEAN and PolyPhen2. The predictions of stability changes were performed using DynaMut and SNPeffect. RESULTS: Based on serological and sequencing features, we concluded the two probands as possible cases of the B(A) phenotype. Crystallization analysis showed that Thr266 substitution does not disrupt the hydrogen bonds. However, some changes in interatomic contacts, such as loss of ionic interactions and hydrophobic contacts, and addition of weak hydrogen bonds, may have affected protein stability to some extent. This mutation was predicted to have a benign effect on enzyme function and slightly reduce protein stability. CONCLUSION: The probands had the same novel B(A) allele with a c.797T>C (p.Met266Thr) mutation on the ABO*B.01 backbone.
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Glicosiltransferases , Mutação de Sentido Incorreto , Humanos , Fenótipo , Mutação , Glicosiltransferases/química , Glicosiltransferases/genética , Alelos , China , Sistema ABO de Grupos Sanguíneos/genética , GenótipoRESUMO
BACKGROUND: Helicobacter pylori infection is a significant pathogen in gastrointestinal diseases. Previous studies have identified single-nucleotide polymorphisms (SNPs) are factors associated with H. pylori infection. Notably, Leb and Sialyl-Lex antigens, regulated by the FUT3 and FUT6 genes, play a crucial role in H. pylori infection. This study aimed to investigate the correlation between FUT3 and FUT6 gene polymorphisms and H. pylori infection in the Han population of northern China. MATERIALS AND METHODS: An immunoturbidimetric assay was employed to detect H. pylori infection, categorizing subjects into infected and noninfected groups. Gene variants were identified through sequencing. Finally, FUT3 and FUT6 gene polymorphisms were analyzed to assess their association with H. pylori infection. RESULTS: The frequency of the T allele (rs778805) and the G allele (rs61147939) in the infection group was significantly higher than that in the noninfection group (63.4% vs. 55.1%, p = 0.045; 55.2% vs. 47.0%, p = 0.042, respectively). In the infection group, the frequency of the AA genotype (rs3745635) in the recessive model, the TT genotype (rs778805) in the recessive model, and the GG genotype (rs61147939) in the recessive model were significantly higher than the noninfection group (5.8% vs. 2.3%, p = 0.042; 41.9% vs. 29.3%, p = 0.022; 34.9% vs. 20.5%, p = 0.0068, respectively). The frequency of the A13 haplotype and the A13/A13 diplotype of the FUT6 gene was significantly higher in the infection group than in the noninfection group (55.56% vs. 46.32%, p = 0.019; 34.94% vs. 20.30%, p = 0.045, respectively). The rs778805-rs17855739-rs28362459-rs3745635 combination was identified as the best interaction model (p < 0.05). CONCLUSIONS: This study suggests that FUT3 and FUT6 gene polymorphisms are significantly associated with H. pylori infection in the Han Chinese from northern China.
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Fucosiltransferases , Predisposição Genética para Doença , Infecções por Helicobacter , Helicobacter pylori , Polimorfismo de Nucleotídeo Único , Infecções por Helicobacter/genética , Infecções por Helicobacter/microbiologia , Fucosiltransferases/genética , Humanos , Masculino , China/epidemiologia , Pessoa de Meia-Idade , Feminino , Helicobacter pylori/genética , Adulto , Idoso , Adulto Jovem , Genótipo , Frequência do GeneRESUMO
BACKGROUND: The impact of increased fruit consumption on weight change remains a matter of debate. OBJECTIVE: This study aimed to evaluate the effects of interventions targeted at promoting fruit consumption and managing body weight in children and adolescents. METHODS: Four electronic databases, including PubMed, Web of science, Embase, and the Cochrane Library, were searched from January 1, 2000, to October 10th, 2023, to identify Randomized controlled trials (RCTs) that assessed changes in fruit consumption and obesity indicators. RESULTS: A total of 22 trials including 12,678 participants who met our inclusion criteria were selected for this review. The meta-analysis demonstrated that the interventions increased fruit intake (MD = 78.58 g/day (95% CI 53.09 to 104.07), P < 0.001) in children and adolescents. The mean reduction of body mass index was 0.27 kg/m2 (95% CI -0.59 to 0.05 kg/m2, P = 0.101). And no significant decreases were observed in body mass index-z scores, but there was a significant decrease in waist circumference (MD = -0.65 cm (95% CI -1.15 to -0.05 cm), P < 0.05). Increased fruit intake was shown to be associated with a lower prevalence of obesity when compared to the control group (odds ratio [OR]: 0.74, 95% CI 0.60 to 0.90), P < 0.05). CONCLUSIONS: This meta-analysis provided evidence that interventions aimed at increasing fruit consumption were effective at reducing obesity prevalence.
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Frutas , Obesidade , Criança , Humanos , Adolescente , Peso Corporal , Obesidade/epidemiologia , Obesidade/prevenção & controle , Índice de Massa CorporalRESUMO
This study aimed to explore the mechanism of action of LINC01133 in non-small cell lung cancer. LINC01133 expression in NSCLC patient tissues and cells was detected by qRT-PCR. After transfecting siRNA-LINC01133 in NSCLC cells, the proliferation and invasive migration ability of the cells were assessed via CCK-8 and Transwell assay, respectively. The sublocalization of LINC01133 in NSCLC cells was analyzed by bioinformatics prediction and nucleoplasm separation assay and RNA-FISH assay. Analysis of the binding relationship between LINC01133, FOXA1 and miR-30b-5p was all through bioinformatics website analysis, dual-luciferase reporter and RNA Pulldown assay. Functional rescue experiments confirmed the character of miR-30b-5p and FOXA1 in LINC01133 regulating the NSCLC cells biological behavior. LINC01133 high expressions were found in NSCLC tissues and cells. siRNA-LINC01133 treatment inhibited NSCLC cells malignant behavior. Mechanistically: LINC01133 promoted FOXA1 expression through adsorption binding of miR-30b-5p. Knocking down miR-30b-5p expression or up-regulating FOXA1 expression was able to reverse siRNA-LINC01133 inhibitory effect of tumor cell malignant behavior. LINC01133 promoted FOX1 expression by competitively binding miR-30b-5p, which attenuated the targeting inhibitory effect of miR-30b-5p on FOXA1 and ultimately promoted proliferation and invasive migration of NSCLC cells.
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Carcinoma Pulmonar de Células não Pequenas , Movimento Celular , Proliferação de Células , Regulação Neoplásica da Expressão Gênica , Fator 3-alfa Nuclear de Hepatócito , Neoplasias Pulmonares , MicroRNAs , RNA Longo não Codificante , Humanos , Carcinoma Pulmonar de Células não Pequenas/genética , Carcinoma Pulmonar de Células não Pequenas/patologia , Carcinoma Pulmonar de Células não Pequenas/metabolismo , Fator 3-alfa Nuclear de Hepatócito/metabolismo , Fator 3-alfa Nuclear de Hepatócito/genética , MicroRNAs/genética , MicroRNAs/metabolismo , RNA Longo não Codificante/genética , RNA Longo não Codificante/metabolismo , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/patologia , Neoplasias Pulmonares/metabolismo , Movimento Celular/genética , Proliferação de Células/genética , Linhagem Celular Tumoral , Fenótipo , Transdução de Sinais/genéticaRESUMO
BACKGROUND: Dyslipidemia is increasingly recognized as an essential risk factor for cardiovascular diseases. However, few studies illustrated the effects of ambient temperature exposure (TE) on lipid levels in children. The study aimed to examine the association between ambient TE and lipid levels in children. METHODS: Based on a prospective cohort, a total of 2423 children (with 4466 lipids measure person-time) were collected from 2014 to 2019. The meteorological observation data and adjusted variables were collected. Mixed-effect models and generalized additive mixed model (GAMM) were applied to investigate the association between ambient TE and lipid levels. RESULTS: A significant negative association was observed between TE and low-density lipoprotein cholesterol (LDL-C) or total cholesterol (TC) levels both in all children [LDL-C, ß(95%CI) = -0.350(-0.434,-0.265), P < 0.001; TC, ß(95%CI) = -0.274(-0.389,-0.160), P < 0.001] and by different sex group. However, no significant association was found in low-density lipoprotein cholesterol (HDL-C) or triglycerides (TG) levels. The estimated optimal ambient TEs for LDL-C were 18.273 °C and 18.024 °C for girls and boys, respectively. For TC, the optimal ambient TEs were 17.949 °C and 18.024 °C, respectively. With ambient TE decreased, the risk of dyslipidemia increased for both boys [OR = 0.032(0.006,0.179), P < 0.001] and girls [OR = 0.582(0.576,0.587), P < 0.001]. CONCLUSION: This study provided a comprehensive illustration about the associations between ambient TE and lipid levels in different sex and ages from a prospective cohort study. The findings will provide evidence for the government to prevent dyslipidemia in vulnerable children through regulating TE.
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BACKGROUND AND OBJECTIVES: The FUT3 gene encodes α(1,3/1,4)-fucosyltransferase, which is a crucial enzyme in the synthesis of Lewis antigens. FUT3 gene variants show race-specific differences. In this study, we conducted a systematic sequence analysis of the FUT3 coding sequence. The objective was to explore genetic variations of the FUT3 gene within the Han population of Northern China. MATERIALS AND METHODS: A cohort of 313 blood donors was recruited for the study. The coding sequence of the FUT3 gene was amplified using polymerase chain reaction, followed by sequencing and haplotype construction. RESULTS: Twelve single nucleotide variations (SNVs) were identified within the coding sequence of the FUT3 gene. Notably, the c.59 T > G site exhibited the highest mutation frequency of 43.13%, followed by the c.508G > A and c.1067 T > A sites with mutation frequencies of 27.48% and 16.93%, respectively. Le was the most common haplotype, accounting for 67.57% of the cases, and Le/Le was the most common diplotype, accounting for 46.33% of the cases. The study also highlighted a significant difference in mutation frequencies of FUT3 gene between the Han Chinese of Northern China and the Dai of Xishuangbanna, China, but not the Han Chinese in Beijing in the North and the Southern Han Chinese, emphasising that Han Chinese in Northern China are genetically most distant from Europeans and closest to East Asians. CONCLUSIONS: Our study characterises FUT3 gene variations in Han Chinese from Northern China, and provides basic genetic data for genetics, forensic medicine, and genotyping of Lewis blood groups.
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BACKGROUND: Y-STR polymorphisms are useful in tracing genealogy and understanding human origins and migration history. This study aimed to fill a knowledge gap in the genetic diversity, structure, and haplogroup distribution of the Han and Manchu populations from the three northeastern provinces in China (Liaoning, Jilin, and Heilongjiang). METHODS: A total of 1,048 blood samples were collected from unrelated males residing in Dalian. Genotyping was performed using the AGCU Y37 + 5 Amplification Kit, and the genotype data were analyzed to determine allele and haplotype frequencies, genetic and haplotype diversity, discrimination capacity, and haplotype match probability. Population pairwise genetic distances (Fst) were calculated to compare the genetic relationships among Han and Manchu populations from Northeast China and other 23 populations using 27 Yfiler Plus loci set. Multi-dimensional scaling and phylogenetic analysis were employed to visualize the genetic relationships among the 27 populations. Moreover, haplogroups were predicted based on 27 Yfiler Plus loci set. RESULTS: The Han populations from Northeast China exhibited genetic affinities with both Han populations from the Central Plain and the Sichuan Qiang population, despite considerable geographical distances. Conversely, the Manchu population displayed a relatively large genetic distance from other populations. The haplogroup analysis revealed the prevalence of haplogroups E1b1b, O1b, O2, and Q in the studied populations, with variations observed among different ethnic groups. CONCLUSION: The study contributes to our understanding of genetic diversity and history of the Han and Manchu populations in Northeast China, the genetic relationships between populations, and the intricate processes of migration, intermarriage, and cultural integration that have shaped the region's genetic landscape.
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Cromossomos Humanos Y , Repetições de Microssatélites , Masculino , Humanos , Filogenia , Cromossomos Humanos Y/genética , Genética Populacional , Haplótipos , ChinaRESUMO
OBJECTIVE: The aim of this study is to identify whether low lupus disease activity status (LLDAS) and clinical remission (CR) of belimumab plus standard of care (SoC) therapy are achievable goals in childhood-onset SLE (cSLE). METHODS: This multicentre, one arm pre-post intervention study was conducted at 15 centers in China. The primary end point was to describe the proportion of patients who achieved LLDAS and CR after 3, 6, and 12 months after treatment with belimumab plus SoC therapy. A multiple regression model was used to impute missing data. A Poisson regression model was used to calculate the effect of belimumab treatment on the reduced risk of serious diseases and the incidence of new damage. RESULT: 193 (92.2% female) with active cSLE from 15 centers were included. At 3, 6 and 12 months, the proportion of LLDAS (CR) was 12.4% (1.0%), 25.6% (4.5%) and 70.3% (29.7%), respectively. The mean SELENA-SLEDAI score decreased from 11.0 at baseline to 3.7, 2.9 and 1.7 at 3, 6, and 12 months. At baseline, all patients received steroids at a mean (SD) prednisone equivalent dose of 31.0 (18.2) mg/day, which decreased to 19.4 (10.8) mg/day at month 3, 12.6 (7.2) mg/day at month 6 and 6.7 (5.3) mg/day at month 12. The symptoms and immunological indicators were also significantly improved. CONCLUSION: This is the first and largest sample size prospective clinical intervention study of cSLE patients treated with belimumab in China. LLDAS and CR were attainable treat-to-target of belimumab plus SoC therapy in cSLE.
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BACKGROUND: Children with obesity is associated with a higher risk of cardiovascular disease (CV) risk in adulthood. This study is to explore the obesity-related lipid metabolites and identify the associations of lipid metabolites with selected CV risk in children and adolescents. METHODS: A case-control study was designed to include a total of 197 children (aged 9-13 years, male 56.34%, 99 children in the obesity group). The lipidomics profiling was measured by ultra-high-performance liquid tandem chromatography quadrupole time-of-flight mass spectrometry. RESULTS: Four FDR-significant abdominal obesity-related lipid metabolites were identified. Compared to the lean group, decreased phosphatidylcholine O-21:2 level (q = 0.010) and sphingomyelins d21:1 (q = 0.029) were found and two lipid metabolites levels were higher in the obese group, including phosphatidylglycerol 43:6 and one did not match with any candidate compounds in databases. After adjusting for covariates, PC3 (O-21:2) and SM (d21:1) were significantly associated with blood glucose. Mediation analysis showed that all three lipid metabolites may mediate the association between abdominal obesity and glucose regulation. CONCLUSIONS: This study identified several novel central obesity-related lipid metabolites, and we found that PC3 (O-21:2) and SM (d21:1) were significantly associated with blood glucose, and all these lipid metabolites can mediate the association between abdominal obesity and glucose dysregulation. IMPACT: Serum lipidomic profiles in children with abdominal obesity and their associations with selected CV risk factors were examined. Our study identified 4 lipid metabolites associated with abdominal obesity, including PC3 (O-21:2), SM (d21:1), PG (43:6), and one did not match with any candidate compounds in the databases. PC3 (O-21:2) and SM (d21:1) were significantly associated with blood glucose. Mediation analysis showed that all three lipid metabolites [PC3 (O-21:2), SM (d21:1), PG (43:6)] may mediate the association between abdominal obesity and abnormal glucose regulation. This study identified several novel obesity-related lipid metabolites.
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Glucose , Obesidade Abdominal , Adolescente , Criança , Masculino , Humanos , Obesidade Abdominal/complicações , Glicemia/metabolismo , Estudos de Casos e Controles , Obesidade , LipídeosRESUMO
BACKGROUND AND OBJECTIVES: The FUT2 gene is responsible for the synthesis of the H antigen in body secretions. It is highly polymorphic and population specific. We investigated the FUT2 gene polymorphism in Chinese blood donors and found a novel deletion mutation in one non-secretor individual. This study aimed to identify mutation(s) responsible for a non-secretor phenotype. MATERIALS AND METHODS: The Lewis blood group of a Chinese Han blood donor was typed using the standard serological technique and the FUT2 gene of the sample was analysed by Sanger sequencing. Clone sequencing was performed for determining the haplotype of the FUT2 gene. Bioinformatics tools were used for predicting the effect of the deletion on the FUT2 gene. RESULTS: A novel nine-base deletion (c.461_469delGGACCTTCT) in the FUT2 gene was identified in a Chinese Han blood donor. Two haplotypes Se390,418 and se204,249,461_469del,772,993 were determined by clone sequencing. According to the prediction of bioinformatics tools, the mutation at c.461_469delGGACCTTCT might not influence the activity of the Se enzyme. CONCLUSION: We identified a new FUT2 mutation, the deletion of nine bases (c.461_469delGGACCTTCT), in a Chinese Han blood donor. This deletion was reported for the first time.
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Doadores de Sangue , População do Leste Asiático , Fucosiltransferases , Humanos , Alelos , Fucosiltransferases/genética , Mutação , Fenótipo , Galactosídeo 2-alfa-L-FucosiltransferaseRESUMO
BACKGROUND AND OBJECTIVES: The Rh blood group system is the most polymorphic human blood group system. Previous studies have investigated variants in the RHD and RHCE promoter. The relevance of these variants to the Chinese Han population is further clarified in this study. MATERIALS AND METHODS: In total, 317 donors (223 Rh D-positive [D+], including 20 Del and 94 Rh D-negative [D-]) were randomly selected. The promoter regions and exon 1 of RHD and RHCE were amplified through polymerase chain reaction (PCR) whose products were directly sequenced using forward and reverse primers. RESULTS: Expected PCR products of the RHD promoter and exon 1 were amplified in 223 D+ individuals, including 20 Del individuals, and were absent in 81 of 94 D- individuals. Expected PCR products of RHCE were observed in all donors. Two single nucleotide variants (SNVs) were observed in the RHD promoter region. Moreover, 11 SNVs were observed in the promoter and exon 1 of RHCE. rs4649082, rs2375313, rs2281179, rs2072933, rs2072932, rs2072931 and rs586178 with strong linkage disequilibria were significantly different between the D+ and D- groups. [A;C] was the most common haplotype in the RHD promoter (NC_000001.11:g.[-1033A>G;-831C>T]). [G;T;T;A;T;A;C;G;A;C;G] was the most predominant haplotype in both total and D- groups. In D+ individuals, [A;C;T;G;C;G;C;G;C;C;C] was the most frequent haplotype in the RHCE promoter (NC_000001.11:g.[-1080A>G;-958C>T;-390T>C;-378G>A;-369C>T;-296G>A;-144C>G;-132G>A;-122C>A;28C>T;48C>G]). CONCLUSION: We speculate that the SNVs/haplotypes found in this article cannot significantly affect gene expression. The present study findings should help elucidate the molecular basis of the polymorphic expression of RHD and RHCE promoter regions.
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População do Leste Asiático , Sistema do Grupo Sanguíneo Rh-Hr , Humanos , Alelos , Polimorfismo Genético , Regiões Promotoras Genéticas , Sistema do Grupo Sanguíneo Rh-Hr/genéticaRESUMO
INTRODUCTION: Our aim was to investigate the incidence and risk factors for aortic regurgitation (AR) requiring unplanned surgery after transcatheter closure of ventricular septal defect (VSD) in children. METHODS: Medical records of 876 children with VSD who underwent transcatheter closure from July 2009 to September 2018 in our hospital were retrospectively reviewed. Groups with and without new-onset or increasing AR requiring unplanned surgery were compared. Univariate and multivariate analyses were used to identify the possible risk factors. Smoothing plot and threshold effect analysis were carried out to find the relationship between possible factors and risk of new-onset or increasing AR. RESULTS: A total of 29 children (3.3%) underwent unplanned surgery after transcatheter closure owing to new-onset or increasing AR, including 6 children with new-onset AR and 23 children with increasing AR. Multivariate regression analysis revealed that preoperative mild AR (OR: 60.39, 95% CI: 11.53-316.30, p < 0.001), larger ratio between diameter to body surface area (OR: 1.25, 95% CI: 1.01-1.55, p = 0.039), intracristal VSD (OR: 34.09, 95% CI: 4.07-285.65, p < 0.001), and shorter distance from the upper edge of defect to the aortic valve (or the sub-aortic rim) (OR: 0.12, 95% CI: 0.05-0.27, p < 0.001) were risk factors for new-onset or increasing AR requiring unplanned surgery. And, low risk of AR after muscular VSD transcatheter closure was found. An L-shaped nonlinear relationship between the sub-aortic rim and the risk of new-onset or increasing AR was observed, and the risk of new-onset or increasing AR with the sub-aortic rim up to the turning point (2 mm) (adjusted OR: 0.00, 95% CI: 0.00-0.08; p =0.001). With a median time of 7.3 years' follow-up, no new-onset or increasing AR has been found for children who initially did not have unplanned surgery. CONCLUSION: Preoperative mild AR, larger ratio between diameter to body surface area, intracristal VSD, and shorter distance of the sub-aortic rim (especially <2 mm) could increase the risk of new-onset or increasing AR requiring unplanned surgery after transcatheter closure of VSD.
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Insuficiência da Valva Aórtica , Comunicação Interventricular , Humanos , Criança , Insuficiência da Valva Aórtica/cirurgia , Incidência , Estudos Retrospectivos , Fatores de Risco , Resultado do Tratamento , Cateterismo CardíacoRESUMO
Brain abscess is a rare but life-threatening complication of meningitis. The purpose of this study was to identify clinical features and potentially relevant factors of brain abscess in neonates with meningitis. This study was a propensity score-matched case-control study of neonates with brain abscess and meningitis in a tertiary pediatric hospital between January 2010 and December 2020. A total of 16 neonates with brain abscess were matched to 64 patients with meningitis. Demography, clinical characteristics, laboratory results, and pathogens were collected. Conditional logistic regression analyses were performed to identify the independent risk factors associated with brain abscess. The most common pathogen we found in the brain abscess group was Escherichia coli. Risk factors of brain abscess were identified: multidrug-resistant bacterial infection (OR, 11.204; 95% CI, 2.315-54.234; p = 0.003), C-reactive protein (CRP) > 50 mg/L (OR, 11.652; 95% CI, 1.799-75.470; p = 0.010). Conclusion: The risk factors of brain abscess are multidrug-resistant bacterial infection and CRP > 50 mg/L. Monitoring the level of CRP is essential. Bacteriological culture and rational use of antibiotics are necessary for the prevention of MDR bacterial infection as well as the occurrence of brain abscess. What is Known: ⢠Morbidity and mortality of neonatal meningitis have declined, but brain abscess associated with neonatal meningitis is still life-threatening. What is New: ⢠This study investigated relevant factors related to brain abscess. ⢠It is important for neonatologists to perform prevention, early identification, and appropriate interventions for neonates with meningitis.
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Infecções Bacterianas , Abscesso Encefálico , Meningites Bacterianas , Meningite , Recém-Nascido , Humanos , Criança , Estudos de Casos e Controles , Pontuação de Propensão , Meningite/complicações , Infecções Bacterianas/complicações , Abscesso Encefálico/etiologia , Fatores de Risco , Proteína C-Reativa/análise , Escherichia coli , Meningites Bacterianas/complicações , Meningites Bacterianas/tratamento farmacológicoRESUMO
BACKGROUND: Environmental noise is becoming increasingly recognized as an urgent public health problem, but the quality of current studies needs to be assessed. To evaluate the significance, validity and potential biases of the associations between environmental noise exposure and health outcomes. METHODS: We conducted an umbrella review of the evidence across meta-analyses of environmental noise exposure and any health outcomes. A systematic search was done until November 2021. PubMed, Cochrane, Scopus, Web of Science, Embase and references of eligible studies were searched. Quality was assessed by AMSTAR and Grading of Recommendations, Assessment, Development and Evaluation (GRADE). RESULTS: Of the 31 unique health outcomes identified in 23 systematic reviews and meta-analyses, environmental noise exposure was more likely to result in a series of adverse outcomes. Five percent were moderate in methodology quality, the rest were low to very low and the majority of GRADE evidence was graded as low or even lower. The group with occupational noise exposure had the largest risk increment of speech frequency [relative risk (RR): 6.68; 95% confidence interval (CI): 3.41-13.07] and high-frequency (RR: 4.46; 95% CI: 2.80-7.11) noise-induced hearing loss. High noise exposure from different sources was associated with an increased risk of cardiovascular disease (34%) and its mortality (12%), elevated blood pressure (58-72%), diabetes (23%) and adverse reproductive outcomes (22-43%). In addition, the dose-response relationship revealed that the risk of diabetes, ischemic heart disease (IHD), cardiovascular (CV) mortality, stroke, anxiety and depression increases with increasing noise exposure. CONCLUSIONS: Adverse associations were found for CV disease and mortality, diabetes, hearing impairment, neurological disorders and adverse reproductive outcomes with environmental noise exposure in humans, especially occupational noise. The studies mostly showed low quality and more high-quality longitudinal study designs are needed for further validation in the future.
Assuntos
Doenças Cardiovasculares , Exposição Ocupacional , Humanos , Estudos Longitudinais , Revisões Sistemáticas como Assunto , Exposição Ambiental/efeitos adversos , Ruído/efeitos adversos , Exposição Ocupacional/efeitos adversos , Doenças Cardiovasculares/etiologiaRESUMO
BACKGROUND: Nuts and algae have been shown to improve BP levels, but their effectiveness is controversial. AIMS: This study aims to illustrate the effect of dietary pattern with nuts and algae-less on BP levels in children and adolescents from a cross-sectional study. METHODS: A total of 5645 children from the Chongqing Children's Health Cohort, aged 9.34 ± 1.74 years with 52.05% males, were analyzed. Stratified analysis was conducted to explore the differences between the two dietary patterns in urban or rural areas, as well as the differences in different gender. Logistic regression was used to analyze the influence factors of increased BP. And a GLM was used to analyze the influence of the two dietary patterns on systolic blood pressure (SBP, mmHg), diastolic blood pressure (DBP, mmHg), and mean arterial pressure (MAP, mmHg). RESULTS: Children with nuts and algae-less dietary patterns had higher SBP (104.68 ± 10.31 vs 103.81 ± 9.74, P = .006), DBP (64.27 ± 7.53 vs 63.55 ± 7.52, P = .002), and MAP (77.74 ± 7.75 vs 76.97 ± 7.52, P = .001) compared with those children with a balanced diet. After adjusting for covariates, the nuts and algae-less diet was a risk factor for hypertension in children when compared with the balanced diet(OR(95%CI):1.455(1.097,1.930), P = .009). The nuts and algae-less diet has a significant influence on SBP (104.68 ± 10.31 mmHg vs.103.81 ± 9.74 mmHg, P = .006). Stratified analysis by sex showed that nuts and algae-less dietary patterns had a more significant impact on females than males. CONCLUSION: Nuts and algae-less dietary pattern correlated with increased BP levels in children, and a greater impact on SBP levels was found in females, suggesting that a balanced diet with appropriate nuts and algae should be proposed for children in China.
Assuntos
Hipertensão , Nozes , Masculino , Feminino , Adolescente , Humanos , Criança , Pressão Sanguínea/fisiologia , Estudos Transversais , DietaRESUMO
BACKGROUND: Although nuts play an important role in preventing cardiovascular disease, the metabolic cues by which nuts regulate blood pressure have not been fully understood.Aims:We conducted a nested case-control study in a prospective cohort study of Southwest China children to explore the potential lipid metabolites related to the relationship between nut dietary and blood pressure. METHODS: Forty-three hypertension cases and 53 controls serum samples were obtained for lipidomic data analysis using a liquid chromatography mass spectrometry platform. RESULTS: We identified four lipid metabolites that are associated with nut intake by a generalized linear model and logistic regression analysis, including phosphatidylglycerol 43:6 [PG (43:6)], phosphatidylcholine 18:0/20:3 [PC (18:0/20:3)], and two phosphatidylethanolamine (PE) compounds [PE (P-16:0/20:4) and PE (P-22:0/18:2)]. Logistic regression analysis indicated that the levels of PG (43:6) and PE (P-16:0/20:4) were negatively associated with hypertension in children, which might be useful biomarkers for predicting childhood hypertension. Further mediation analysis revealed that PG (43:6) and PC (18:0/20:3) function as mediating variables between nut intake and blood pressure levels. CONCLUSION: This study provides scientific evidence that nut consumption induces some beneficial changes in lipid metabolism, which may reduce the risk of hypertension in children.
Assuntos
Hipertensão , Nozes , Humanos , Criança , Estudos Prospectivos , Estudos de Casos e Controles , Hipertensão/etiologia , Hipertensão/prevenção & controle , Dieta , LipídeosRESUMO
Several studies have investigated the effect of screen time interventions on obesity in children and adolescents, but the existing results were controversial. This study aimed to analyze the effect of screen time intervention on obesity in children and adolescents. PubMed, Cochrane, Web of Science, Embase databases were searched through December 2020 to identify publications meeting a priori inclusion criteria and references in the published articles were also reviewed. Finally, 14 randomized controlled trials and 1894 subjects were included in this meta-analysis. The results showed that interventions targeting screen time are effective in reducing total screen time (MD: -6.90 h/week, 95% CI: [-9.19 to -4.60], p < 0.001) and television time (MD: -6.17 h/week, 95% CI: [-10.70 to -1.65], p < 0.001) in children and adolescents. However, there was no significant difference between the intervention and control groups in body mass index and body mass index-z score. In conclusion, there is no evidence that screen time interventions alone can decrease obesity risk in children and adolescents, though they can effectively reduce screen time.