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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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Fucosiltransferasas , Predisposición Genética a la Enfermedad , Infecciones por Helicobacter , Helicobacter pylori , Polimorfismo de Nucleótido Simple , Infecciones por Helicobacter/genética , Infecciones por Helicobacter/microbiología , Fucosiltransferasas/genética , Humanos , Masculino , China/epidemiología , Persona de Mediana Edad , Femenino , Helicobacter pylori/genética , Adulto , Anciano , Adulto Joven , Genotipo , Frecuencia de los GenesRESUMEN
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: 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: 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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Carcinogénesis , Carcinoma de Pulmón de Células no Pequeñas , Proliferación Celular , Receptores ErbB , Regulación Neoplásica de la Expresión Génica , Histona Desacetilasa 1 , Neoplasias Pulmonares , Proteínas Proto-Oncogénicas c-akt , Transducción de Señal , Factores de Transcripción , Humanos , Carcinoma de Pulmón de Células no Pequeñas/patología , Carcinoma de Pulmón de Células no Pequeñas/genética , Carcinoma de Pulmón de Células no Pequeñas/metabolismo , Receptores ErbB/metabolismo , Receptores ErbB/genética , Histona Desacetilasa 1/metabolismo , Histona Desacetilasa 1/genética , Proteínas Proto-Oncogénicas c-akt/metabolismo , Neoplasias Pulmonares/patología , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/metabolismo , Animales , Línea Celular Tumoral , Carcinogénesis/genética , Carcinogénesis/patología , Factores de Transcripción/metabolismo , Factores de Transcripción/genética , Proteínas de Unión al ADN/metabolismo , Proteínas de Unión al ADN/genética , Ratones Desnudos , Ratones , FemeninoRESUMEN
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 de Pulmón de Células no Pequeñas , Movimiento Celular , Proliferación Celular , Regulación Neoplásica de la Expresión Génica , Factor Nuclear 3-alfa del Hepatocito , Neoplasias Pulmonares , MicroARNs , ARN Largo no Codificante , Humanos , Carcinoma de Pulmón de Células no Pequeñas/genética , Carcinoma de Pulmón de Células no Pequeñas/patología , Carcinoma de Pulmón de Células no Pequeñas/metabolismo , Factor Nuclear 3-alfa del Hepatocito/metabolismo , Factor Nuclear 3-alfa del Hepatocito/genética , MicroARNs/genética , MicroARNs/metabolismo , ARN Largo no Codificante/genética , ARN Largo no Codificante/metabolismo , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/patología , Neoplasias Pulmonares/metabolismo , Movimiento Celular/genética , Proliferación Celular/genética , Línea Celular Tumoral , Fenotipo , Transducción de Señal/genéticaRESUMEN
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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Pueblo Asiatico , Técnicas de Genotipaje , Polimorfismo de Nucleótido Simple , Sistema del Grupo Sanguíneo Rh-Hr , Humanos , Sistema del Grupo Sanguíneo Rh-Hr/genética , Pueblo Asiatico/genética , Técnicas de Genotipaje/métodos , China , Genotipo , Alelos , Polimorfismo de Longitud del Fragmento de Restricción , Frecuencia de los Genes , Regiones Promotoras Genéticas , Pueblos del Este de AsiaRESUMEN
FOR FULL-LENGTH ARTICLES: This study systematically identified the effects of physical activity (PA) on depression, anxiety and weight-related outcomes among children and adolescents with overweight/obesity. EMBASE, The Cochrane Library, Web of Science, and PubMed were searched from January 1, 2000 to August 1, 2022 for peer-reviewed papers. Meta-analyses were conducted to ascertain the effect of physical activity on symptoms of anxiety, depression and weight-related outcomes in overweight/obese children and adolescents. Twenty-five studies representing 2188 participants, with median age 12.08 years old (8.3 to 18.44 years) were included. Depressive and anxiety symptoms, BMI, BMI z-scores, weight, waist circumference and height were evaluated. After incorporating the effects of PA interventions on children and adolescents with overweight/obesity, PA could improve depressive and anxiety symptoms, but not obesity indexes except waist circumference. While, PA combined with other interventions have a significant effect both on anxiety symptoms and BMI compared to pure PA intervention. In terms of intervention duration, we observed that durations falling within the range of 8 to 24 weeks exhibited the most positive effects on reducing depressive symptoms. FOR SHORT COMMUNICATIONS: We included 25 articles on the effects of physical activity on psychological states such as depression and anxiety, weight, BMI and other weight-related indicators in children and adolescents with overweight/obesity. We attempted to determine the most appropriate type of physical activity intervention for children and adolescents with overweight/obesity, as well as the most appropriate population characteristics and duration by combining the outcome data from each article. This has a great enlightening effect for health workers to carry out corresponding strategies in the future.
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Ansiedad , Índice de Masa Corporal , Depresión , Ejercicio Físico , Obesidad Infantil , Humanos , Adolescente , Niño , Obesidad Infantil/psicología , Obesidad Infantil/terapia , Depresión/psicología , Ansiedad/psicología , Masculino , FemeninoRESUMEN
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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Glicosiltransferasas , Mutación Missense , Humanos , Fenotipo , Mutación , Glicosiltransferasas/química , Glicosiltransferasas/genética , Alelos , China , Sistema del Grupo Sanguíneo ABO/genética , GenotipoRESUMEN
Evidence about the relationship between meal and sleep time and CVD in children is scarce. The aims of this study were to describe the association between life rhythm patterns and blood pressure in children. This research was conducted among 5,608 children aged 6 to 15 years old in Chongqing and Sichuan provinces in 2021 and 2022. Dietary and sleep rhythms information was collected. The time of the first meal and last meal, and sleep time, were obtained. The mean age was 10.48 ± 2.24 years old, with 2958 (52.75%) male participants. The mean feeding window on weekdays was 11.69 h, 12.42 h, and 13.23 h for participants aged 6-7 years old, 8-12 years old and 13-15 years old, respectively. Weekday feeding window and last mealtime were positively correlated with blood pressure levels. And the changes in the feeding window between weekdays and weekends were significantly correlated with BP. Sleep duration and change in wake time were significantly correlated with SBP. Based on these results, this study identified the optimal combination of dietary and sleep rhythm interventions for children younger than 12 years of age and aged 12 and older, respectively. Disorder dietary and sleep rhythms disorders may correlate with elevated blood pressure levels, suggesting developing optimal dietary and sleep rhythm patterns could prevent the incidence of CVDs in children. The optimal dietary rhythm was defined by the indexes of breakfast time, dinner time and daily feeding window. As good meal patterns are defined as satisfied the following three items: for children younger than 12 years should have breakfast after 7:30 am; aged 12 years and over should have breakfast after 7 am; having dinner before 6 pm; daily feeding window less than 12.5 h. And less optimal dietary rhythm should satisfy any condition or eat dinner between 6 pm and 8 pm; and poor dietary rhythm should not satisfy any of the three criteria and eat dinner after 8 pm. Children with optimal dietary rhythm (in group A) had lower SBP (P < 0.001), DBP (P = 0.002) and MAP (P < 0.001) than those in group C.
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Enfermedades Cardiovasculares , Ritmo Circadiano , Niño , Humanos , Masculino , Adolescente , Femenino , Estudios Transversales , Presión Sanguínea , Ritmo Circadiano/fisiología , Sueño/fisiología , Dieta , Conducta AlimentariaRESUMEN
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 , Obesidad , Niño , Humanos , Adolescente , Peso Corporal , Obesidad/epidemiología , Obesidad/prevención & control , Índice de Masa CorporalRESUMEN
BACKGROUND: No previous systematic review or meta-analysis has evaluated the effect of optimal time-restricted eating (TRE) interventions on cardiovascular (CVD) risk factors. This meta-analysis aimed to illustrate the effect of a suitable TRE on CVD risk factors. METHODS: A systematic review was performed to identify trials reporting the effects of TRE, relative to non-diet controls, on CVD risk factors in humans. A random-effects model was used to evaluate the effect sizes, and the results are expressed as the mean difference (MD) and 95% confidence intervals (CIs). Subgroup analyses were performed to examine the influence of the study population, age, duration of intervention, and baseline mean BMI on the CVD indexes. RESULTS: TRE intervention significantly reduced systolic pressure (SBP) (MD: -3.45 mmHg; 95%CI:(-6.20,-0.71) mmHg; P = 0.01), body weight (MD: -1.63 Kg; 95%CI:(-2.09,-1.17) Kg; P<0.001), body mass index (BMI) (MD: -0.47 Kg/m2; 95% CI: (-0.72, -0.22) Kg/m2; P<0.001), and fat mass (MD: -0.98 Kg; 95% CI: (-1.51,-0.44) Kg; P<0.001), and reduced blood glucose levels. Based on the results of subgroup analysis, this meta-analysis identified the optimal TRE for BP (with a 6 h feeding window, last eating time point at 6-8 PM, and male participants with obesity and aged ≥ 45 years), obesity (with a 6 h feeding window, last eating time point at 6-8 PM, and female participants aged ≥ 45 years), lipids (with an 8 h feeding window, last eating time point at 6-8 PM, and male participants aged < 45 years), and glucose (with a 10-12 h feeding window, last eating time point before 6 PM, and female participants aged < 45years). CONCLUSIONS: Relative to a non-diet control, TRE is effective for the improvement of CVD risks. Moreover, individual TRE interventions should be developed for different populations to achieve the most effective health improvement for CVD risk factors.
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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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Pueblos del Este de Asia , Sistema del Grupo Sanguíneo Rh-Hr , Humanos , Alelos , Polimorfismo Genético , Regiones Promotoras Genéticas , Sistema del Grupo Sanguíneo Rh-Hr/genéticaRESUMEN
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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Donantes de Sangre , Pueblos del Este de Asia , Fucosiltransferasas , Humanos , Alelos , Fucosiltransferasas/genética , Mutación , Fenotipo , Galactósido 2-alfa-L-FucosiltransferasaRESUMEN
(1) Background: Epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs) have been the first line therapy for EGFR-mutant lung adenocarcinoma (LAC) patients with brain metastases (BMs). However, the role and the optimal time of brain radiotherapy remains controversial. We aimed to investigate the role of upfront brain stereotactic radiotherapy (SRS) and the impact of deferral radiotherapy on patients' clinical outcomes. (2) Methods: We retrospectively studied 53 EGFR-mutant LAC patients with limited synchronous BMs between 2014 and 2020 at our institute. The limited BMs was defined with one to four BM lesions, with a maximal size of ≤4 cm. Patients were categorized into two groups: upfront brain SRS (upfront RT) and upfront TKIs. The intracranial progression-free survival (iPFS), progression-free survival (PFS), and overall survival (OS) between groups were analyzed. (3) Results: The median iPFS (21.0 vs. 12.0 months, p = 0.002) and PFS (20.0 vs. 11.0 months, p = 0.004) of the upfront RT group was longer than that of the upfront TKI group. There were no significant differences in median OS (30.0 vs. 26.0 months, p = 0.552) between the two groups. The upfront RT group is less likely to suffer from intracranial progression of the original sites than that of upfront TKIs during the disease course (36.1% vs. 0.0%, p = 0.025). Multivariate analysis showed that the Karnofsky Performance Scale and the presence of synchronous meningeal metastases were associated with overall survival. (4) Conclusions: Compared with upfront TKI, the combination of upfront SRS with TKIs can improve the iPFS and PFS in EGFR-mutant LAC with synchronous BMs. The addition of upfront brain SRS was useful for the original intracranial metastatic lesions.
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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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Cromosomas Humanos Y , Repeticiones de Microsatélite , Masculino , Humanos , Filogenia , Cromosomas Humanos Y/genética , Genética de Población , Haplotipos , ChinaRESUMEN
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: 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.
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Hipertensión , Nueces , Humanos , Niño , Estudios Prospectivos , Estudios de Casos y Controles , Hipertensión/etiología , Hipertensión/prevención & control , Dieta , LípidosRESUMEN
BACKGROUND AND OBJECTIVE: Glioblastoma is a cranial malignant tumor with a high recurrence rate after surgery and a poor response to chemoradiotherapy. Bevacizumab has demonstrated efficacy in the treatment of glioblastoma by inhibiting vascular endothelial growth factor, but the efficacy of vascular endothelial growth factor receptor tyrosine kinase inhibitors varies in treating glioblastoma. This single-arm prospective study aimed to explore the efficacy and safety of the vascular endothelial growth factor receptor tyrosine kinase inhibitor apatinib in treating recurrent glioblastoma after chemoradiotherapy. METHODS: A total of 15 patients with recurrent glioblastoma (2016 World Health Organization grade IV) after chemoradiotherapy were enrolled in this study from September 2017 to September 2019 and treated with apatinib 500 mg once daily. Responses were evaluated according to the Response Assessment in Neuro-Oncology criteria, and adverse events were recorded according to the National Cancer Institute Common Terminology Criteria for Adverse Events Version 4.0. RESULTS: The overall response rate was 33.3%, and the disease control rate was 66.6%. The median progression-free survival was 2 months, and the median overall survival was 6.5 months. The apatinib dose was adjusted in seven patients because of adverse events (46.6%). The most common adverse events were thrombocytopenia (53.3%), asthenia (40%), and hand-foot syndrome (33.3%). CONCLUSIONS: Apatinib might be effective in treating recurrent glioblastoma after chemoradiotherapy in terms of the overall response rate, but the efficacy is not durable and the clinical benefit is limited. The adverse effects of apatinib were acceptable. CLINICAL TRIAL REGISTRATION: ChiCTR-ONC-17013098, date of registration: 24 October, 2017.
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Antineoplásicos , Glioblastoma , Humanos , Glioblastoma/tratamiento farmacológico , Estudios Prospectivos , Factor A de Crecimiento Endotelial Vascular/uso terapéutico , Bevacizumab , Inhibidores de la Angiogénesis , Antineoplásicos/efectos adversosRESUMEN
BACKGROUND: Although numerous measures have been used to improve the outcome of lung cancer patients, lung cancer, as the second most common diagnosed cancer, is still the main cause of cancer death. It becomes increasingly urgent for us to deeply deplore the molecular mechanism of lung cancer and to discover the potential therapeutic targets. In our study, we are dedicated to discovering the role of MIB2 in lung cancer development. METHODS: The public databases were used to compare the expression level of MIB2 in cancer and non-cancer tissue. We analyzed the expression of MIB2 in lung cancer samples by performing Rt-PCR and western blot. We carried out CCK8 and clone assays to study the influence of MIB2 in lung cancer proliferation. The transwell assays and wound healing assays were implemented to study the function of MIB2 in metastasis and invasion. Proteins of cell cycle control pathways are detected to verify the potential mechanism of MIB2 in lung cancer progression. RESULTS: MIB2 is up regulated in lung cancer tissue compared to adjacent normal lung tissue according to both public databases and our clinical lung cancer samples. Knockdown of MIB2 inhibits proliferation, metastasis, and invasion of lung cancer cell lines. Cyclins and cyclin dependent kinases (CDK) including CDK2, CDK4, and cyclinB1 were down regulated in MIB2 knockdown cells. CONCLUSION: Our results prove that MIB2 acts as a driver in NSCLC tumorigenesis by regulating cell cycle control pathways.
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Carcinoma de Pulmón de Células no Pequeñas , Neoplasias Pulmonares , MicroARNs , Humanos , Carcinoma de Pulmón de Células no Pequeñas/patología , Neoplasias Pulmonares/metabolismo , MicroARNs/metabolismo , Línea Celular Tumoral , Proliferación Celular/genética , Puntos de Control del Ciclo Celular , Ubiquitina-Proteína LigasasRESUMEN
AIM: To evaluate the effectiveness of massage on treating feeding intolerance (FI). DESIGN: A randomized, controlled, prospective clinical trial. METHODS: A total of 104 preterm infants whose gestational age between 28 and 34 weeks and birth weight between 1000 and 2000 g with diagnosis of FI were recruited. Participants were stratified by birth weight (1000-1499 g or 1500-2000 g) and randomized to either the intervention group, who will receive 7 days of massage, or the control group. The primary outcome is the time to reach full enteral nutrition. Secondary outcomes include duration of FI, change of body index, length of hospitalization, change of gastric residual volume, abdomen circumference and defecation measurement before and after 7 days of intervention. RESULTS: Results of this study, which includes index on FI and physical development, have the potential to provide evidence that massage will alleviate symptoms of FI, and contribute to the long-term positive outcome of preterm infants.