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1.
PLoS One ; 17(6): e0269180, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35696368

RESUMO

OBJECTIVE: To investigate the risk factors for metabolic bone disease of prematurity (MBDP), and to provide a reference for the prevention of MBDP. METHODS: The databases including China Biomedical Literature Service System, China National Knowledge Infrastructure, Wanfang Data, and Weipu Periodical Database, PubMed, Web of Science, Embase, Cochrane Library and other databases were searched for studies on the risk factors for MBDP published up to June 18, 2021. RevMan 5.3 and Stata 14.1 software were used to perform a Meta analysis. RESULTS: A total of 15 articles were included, including 13 case-control studies, 1 current investigation, and 1 retrospective cohort study. There were 1,435 cases in the case group and 2,057 cases in the control group, with a total sample size of 3,492 cases. Meta analysis showed that risk factors for MBDP include birth weight <1000g (OR = 6.62, 95%CI: 2.28-19.25), gestational age <32 weeks (OR = 2.73, 95%CI: 1.07-6.95), septicemia (OR = 2.53, 95%CI: 1.69-3.79), parenteral nutrition time (OR = 4.04, 95%CI: 1.72-9.49), cholestasis (OR = 3.50, 95%CI: 1.49-8.23), intrauterine growth retardation (OR = 6.89, 95%CI: 3.81-12.44), while the birth weight(OR = 0.44, 95%CI: 0.21-0.90) and gestational age (OR = 0.57, 95%CI: 0.44-0.73)are the protective factors of MBDP. CONCLUSION: Factors like birth weight <1000g, gestational age <32 weeks, septicemia, parenteral nutrition time, cholestasis, and intrauterine growth retardation may increase the risk of metabolic bone disease of prematurity.


Assuntos
Doenças Ósseas Metabólicas , Colestase , Doenças do Prematuro , Sepse , Peso ao Nascer , Doenças Ósseas Metabólicas/epidemiologia , Doenças Ósseas Metabólicas/metabolismo , Feminino , Retardo do Crescimento Fetal , Humanos , Lactente , Recém-Nascido , Estudos Retrospectivos , Fatores de Risco
2.
Artigo em Inglês | MEDLINE | ID: mdl-35198034

RESUMO

BACKGROUND: There are still controversies about the curative effect of vitamin C in treating HIE, and its mechanism of action is not entirely clear. This study is designed to explore the potential molecular mechanism of vitamin C in treating neonatal hypoxic ischemic encephalopathy (HIE). METHODS: The effect targets of vitamin C and the pathogenic targets of neonatal HIE were obtained via retrieval of public databases to screen out the molecular targets of vitamin C acting on neonatal HIE. Gene Ontology (GO) functional annotations and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis were performed on the main targets. Vitamin C and the optimum target structural components are subjected to molecular docking and molecular dynamics simulation analysis via computer software so as to verify their binding activity and stability. RESULT: Based on 16 overlapping targets of vitamin C and HIE, seven main targets were identified in this study. According to GO and KEGG analysis, molecular functions (top 25 items) and signal pathways (21 items) related to inflammatory reaction, immune response, and cell transcriptional control may be potential pathways for vitamin C to treat neonatal HIE. Molecular docking and molecular dynamics simulation were adopted to definitively determine the 4 optimum core target spots. CONCLUSION: The efficacy of vitamin C on HIE is involved in the immunoregulation and inflammation-related functional processes and signal pathways. These molecular mechanisms, including core targets, will contribute to the clinical practice of neonatal HIE in the future.

4.
Seizure ; 92: 158-165, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-34525431

RESUMO

BACKGROUND: In recent years, studies have examined the relationship between febrile seizures in children and S100B protein with contradictory results. We systematically evaluated the relationship between children's febrile seizures and S100B protein levels. METHODS: We used Stata 11.0 software to conduct a meta-analysis of the included studies published in The China National Knowledge Infrastructure, VIP, Wanfang, Chinese Biology Medicine Disc, PubMed, Web of Science, Cochrane Library, and EMBASE databases as well as clinical trial registries in China, Europe, and the United States. RESULTS: Six case-control studies were finally included in the meta-analysis. The results of the meta-analysis showed that the serum S100B protein level of children with febrile seizures was 0.72 higher than the serum S100B protein level of healthy children (Z=6.85, 95% CI 0.52∼0.93, P<0.05). There was no difference in the serum S100B protein level between the children with febrile seizures and children with fever but without seizures (Z=0.70, 95% CI -0.20∼0.41, P>0.05). CONCLUSION: The level of serum S100B protein in children with febrile seizures was higher than that of healthy children and was statistically significant, whereas the increase in children with higher fever without seizures was not statistically significant. Because there was only a difference in serum S100B protein levels between children with febrile seizures and healthy children but not in febrile children without seizures as the strongest confounding factors for the results, febrile seizures do not elevate the level of S100B protein levels any more than fever.


Assuntos
Convulsões Febris , Criança , Europa (Continente) , Febre , Humanos , Subunidade beta da Proteína Ligante de Cálcio S100 , Convulsões , Convulsões Febris/epidemiologia
5.
PLoS One ; 16(5): e0251584, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34043645

RESUMO

OBJECTIVE: Hyperbilirubinemia is a common disease in the neonatal period, and hyperbilirubinemia may cause brain damage. Therefore, prevention and diagnosis and management of hyperbilirubinemia is very important, and vitamin D may affect bilirubin levels. To evaluate the relationship between neonatal hyperbilirubinemia and vitamin D levels. METHOD: The China National Knowledge Infrastructure, VIP, Wanfang, Chinese Biology Medicine Disc, PubMed, Web of Science, Cochrane Library, and Embase databases as well as clinical trial registries in China and the United States were searched for relevant studies from inception to September 2020 without restrictions on language, population, or year. The studies was screened by two reviewers independently, the data were extracted, and the risk of bias of the included studies was evaluated using the NOS. A meta-analysis was conducted on the included studies using Stata11 software. RESULTS: Six case-control studies were included, and the methodological quality of the studies was high (grade A). The studies included 690 newborns; more than 409 were diagnosed with hyperbilirubinemia. The means and standard deviations were calculated. Meta-analysis results showed that neonatal vitamin D levels were 7.1 ng/ml lower among infants with hyperbilirubinemia than among healthy newborn levels (z = 6.95, 95% CI 9.10 ~ 5.09, P < 0.05). Subgroup analysis was conducted based on whether the bilirubin levels were concentrated in the 15 to 20 mg/dl range. Vitamin D level of infants with hyperbilirubinemia (the bilirubin levels were concentrated in the 15 to 20 mg/dl range) was 9.52 ng/ml (Z = 15.55, 95% CI-10.72~-8.32, P<0.05) lower than that of healthy infants. The bilirubin levels in four cases were not concentrated in the 15-20 mg/dl range. The results showed that the vitamin D level of hyperbilirubinemia (The bilirubin levels were not concentrated in the 15-20 mg/dl range) neonates were 5.35 ng/ml lower than that of healthy neonates (Z = 6.43, 95% CI-6.98~-3.72, P<0.05). CONCLUSION: Vitamin D levels were observed to be lower in neonates with hyperbilirubinemia as compared to term neonates without hyperbilirubinemia in this study. This can possibly suggest that neonates with lower vitamin D levels are at higher risk for developing hyperbilirubinemia.


Assuntos
Hiperbilirrubinemia Neonatal/sangue , Vitamina D/sangue , Lesões Encefálicas/sangue , Lesões Encefálicas/etiologia , Humanos , Hiperbilirrubinemia Neonatal/complicações , Recém-Nascido
6.
Nat Commun ; 7: 11664, 2016 05 31.
Artigo em Inglês | MEDLINE | ID: mdl-27244555

RESUMO

Hepatitis B virus (HBV) infection is a common infectious disease. Here we perform a genome-wide association study (GWAS) among Chinese populations to identify novel genetic loci involved in persistent HBV infection. GWAS scan is performed in 1,251 persistently HBV infected subjects (PIs, cases) and 1,057 spontaneously recovered subjects (SRs, controls), followed by replications in four independent populations totally consisting of 3,905 PIs and 3,356 SRs. We identify a novel locus at 8p21.3 (index rs7000921, odds ratio=0.78, P=3.2 × 10(-12)). Furthermore, we identify significant expression quantitative trait locus associations for INTS10 gene at 8p21.3. We demonstrate that INST10 suppresses HBV replication via IRF3 in liver cells. In clinical plasma samples, we confirm that INST10 levels are significantly decreased in PIs compared with SRs, and negatively correlated with the HBV load. These findings highlight a novel antiviral gene INTS10 at 8p21.3 in the clearance of HBV infection.


Assuntos
Proteínas de Transporte/genética , Cromossomos Humanos Par 8/genética , Predisposição Genética para Doença , Vírus da Hepatite B/fisiologia , Hepatite B Crônica/genética , Adulto , Idoso , Povo Asiático/genética , Proteínas de Transporte/imunologia , Estudos de Casos e Controles , Linhagem Celular , Feminino , Loci Gênicos/genética , Estudo de Associação Genômica Ampla , Antígenos de Superfície da Hepatite B/isolamento & purificação , Vírus da Hepatite B/isolamento & purificação , Hepatite B Crônica/sangue , Hepatite B Crônica/imunologia , Hepatite B Crônica/virologia , Hepatócitos , Humanos , Fator Regulador 3 de Interferon/imunologia , Fator Regulador 3 de Interferon/metabolismo , Fígado/citologia , Fígado/imunologia , Fígado/virologia , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Testes Sorológicos , Carga Viral/imunologia , Replicação Viral/imunologia , Adulto Jovem
7.
Yi Chuan ; 38(5): 363-90, 2016 05.
Artigo em Chinês | MEDLINE | ID: mdl-27232486

RESUMO

Steady progress has been achieved in the medical genetics in China in 2015, as numerous original researches were published in the world's leading journals. Chinese scientists have made significant contributions to various fields of medical genetics, such as pathogenicity of rare diseases, predisposition of common diseases, somatic mutations of cancer, new technologies and methods, disease-related microRNAs (miRNAs), disease-related long non-coding RNAs (lncRNAs), disease-related competing endogenous RNAs (ceRNAs), disease-related RNA splicing and molecular evolution. In these fields, Chinese scientists have gradually formed the tendency, from common variants to rare variants, from single omic analyses to multipleomics integration analyses, from genetic discovery to functional confirmation, from basic research to clinical application. Meanwhile, the findings of Chinese scientists have been drawn great attentions of international peers. This review aims to provide an overall picture of the front in Chinese medical genetics, and highlights the important findings and their research strategy.


Assuntos
Genética Médica , Metilação de DNA , Evolução Molecular , Predisposição Genética para Doença , Humanos , MicroRNAs/fisiologia , Mutação , Neoplasias/genética , Doenças Raras/genética
8.
BMC Cancer ; 15: 862, 2015 Nov 06.
Artigo em Inglês | MEDLINE | ID: mdl-26545861

RESUMO

BACKGROUND: Argonaute 2 (AGO2), a central component of RNA-induced silencing complex, plays critical roles in cancer. We examined whether the single nucleotide polymorphisms (SNPs) of AGO2 were related to the risk of nasopharyngeal carcinoma (NPC). METHODS: Twenty-five tag SNPs within AGO2 were genotyped in Guangxi population consisting of 855 NPC patients and 1036 controls. The SNPs significantly associated with NPC were further replicated in Guangdong population consisting of 996 NPC patients and 972 controls. Functional experiments were conducted to examine the biologic roles of AGO2 in NPC. RESULTS: A significantly increased risk of advanced lymph node metastasis of NPC was identified for the AGO2 rs3928672 GA + AA genotype compared with GG genotype in both the Guangxi and Guangdong populations (combined odd ratio = 2.08, 95 % confidence interval = 1.44-3.01, P = 8.60 × 10(-5)). Moreover, the AGO2 protein expression levels of rs3928672 GA + AA genotype carriers were higher than the GG genotype carriers in the NPC tissues (P = 0.041), and AGO2 was significantly over-expressed in NPC tissues compared with non-cancerous nasopharyngeal tissues (P = 0.011). In addition, AGO2 knockdown reduced cell proliferation, induced apoptosis, and inhibited migration of NPC cells. Furthermore, gene expression microarray showed that genes altered following AGO2 knockdown were clustered in tumorigenesis and metastasis relevant pathways. CONCLUSIONS: Our findings suggest that the genetic polymorphism in AGO2 may be a risk factor for the advanced lymph node metastasis of NPC in Chinese populations, and AGO2 acts as an oncogene in the development of NPC.


Assuntos
Proteínas Argonautas/genética , Predisposição Genética para Doença , Neoplasias Nasofaríngeas/genética , Polimorfismo de Nucleotídeo Único , Alelos , Apoptose , Proteínas Argonautas/metabolismo , Carcinoma , Estudos de Casos e Controles , Linhagem Celular Tumoral , Movimento Celular , Proliferação de Células , China/epidemiologia , Feminino , Regulação Neoplásica da Expressão Gênica , Frequência do Gene , Técnicas de Silenciamento de Genes , Estudos de Associação Genética , Genótipo , Humanos , Imuno-Histoquímica , Incidência , Metástase Linfática , Masculino , Carcinoma Nasofaríngeo , Neoplasias Nasofaríngeas/epidemiologia , Neoplasias Nasofaríngeas/patologia , Vigilância da População , Risco
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