RESUMO
The rapid development of science and technology has become an indispensable part of human life. Minimally invasive lung cancer surgery, that is, thoracoscopic surgery and da Vinci robotic surgery, has many advantages over previous surgeries, there is no need to make a large incision in the chest, the patient after such surgery, and recovery is also better and can also reduce the incision of the operation. Therefore, with the rapid development of science and technology today, how to detect changes in patients' health and establish an intelligent health monitoring system has become a development trend. This paper proposes to apply health monitoring in CYP1B1 gene polymorphism and nursing after clinical treatment of minimally invasive lung cancer surgery, after analyzing the society's demand for real-time health monitoring in this paper. It also studies the health monitoring system based on the advantages of smart phones. The system is suitable for the Android operating system and can monitor the temperature, weight, and other data of the human body. The experimental results show that the data value of the information displayed by the android software has a high degree of matching with the measured value, which basically keeps floating around 80, and the data consistency is strong.
Assuntos
Neoplasias Pulmonares , Procedimentos Cirúrgicos Robóticos , Citocromo P-450 CYP1B1/genética , Humanos , Neoplasias Pulmonares/genética , Neoplasias Pulmonares/cirurgia , Procedimentos Cirúrgicos Minimamente Invasivos/métodos , Polimorfismo Genético , Procedimentos Cirúrgicos Robóticos/métodos , Toracoscopia/métodosRESUMO
The major causes of congenital heart diseases (CHDs) are the interactions of genetic and environmental factors. We conducted a case-control study in 357 mothers of CHDs fetuses and 270 control mothers to investigate the association of maternal PAHs exposure, AHR, CYP1A1, CYP1A2, CYP1B1 and CYP2E polymorphisms, the interaction between PAHs exposure and genetic variants with the risk of CHDs. The higher level PAHs exposure was associated with the risk of CHDs (aOR = 2.029, 95% CI: 1.266, 3.251) or subtypes. The haplotypes of AHR or CYP1A2 were associated with the risk of CHDs: AHR: C-G-A-C: aOR = 0.765; T-A-G-A: aOR = 1.33; CYP1A2: A-T:aOR = 1.75; C-C: aOR = 0.706. When exposed to higher level PAHs, the risk of CHDs among the mothers carrying rs2158041 "C/T or T/T" genotype or rs7811989 "G/A or A/A" genotype in AHR was 1.724 (χ2 = 7.209, P = 0.007) or 1.735 (χ2 = 7.364, P = 0.007) times greater than the aOR in the mothers carrying wild genotype. The multiplicative-scale interactions between PAHs exposure and polymorphisms of CYP1A2 rs4646425 (P = 0.03) or CYP2E1 rs915908 (P = 0.0238) on the risk of CHDs were observed. Our study suggests that maternal AHR polymorphisms may modify the association of PAHs exposure with CHDs, CYP1A2 or CYP2E1 polymorphisms significantly interact with PAHs exposure on CHDs.
Assuntos
Cardiopatias Congênitas/etiologia , Cardiopatias Congênitas/genética , Hidrocarbonetos Policíclicos Aromáticos/efeitos adversos , Adulto , Estudos de Casos e Controles , Citocromo P-450 CYP1A1/genética , Citocromo P-450 CYP1A2/genética , Citocromo P-450 CYP1A2/metabolismo , Citocromo P-450 CYP1B1/genética , Citocromo P-450 CYP2E1/genética , Citocromo P-450 CYP2E1/metabolismo , Sistema Enzimático do Citocromo P-450/genética , Sistema Enzimático do Citocromo P-450/metabolismo , Feminino , Feto , Genótipo , Haplótipos , Humanos , Exposição Materna/efeitos adversos , Hidrocarbonetos Policíclicos Aromáticos/análise , Polimorfismo de Nucleotídeo Único/genética , Gravidez , Efeitos Tardios da Exposição Pré-Natal , Receptores de Hidrocarboneto Arílico/genética , Receptores de Hidrocarboneto Arílico/metabolismo , Fatores de Risco , Adulto JovemRESUMO
The associations between CYP1B1 polymorphisms and head and neck squamous cell carcinoma (HNSCC) risk have been conflicting. We therefore performed a meta-analysis to derive a more precise relationship. Six published case-control studies were collected; odds ratios (ORs) with 95% confidence interval (CI) were used to assess the association between CYP1B1 Leu432Val, Asn453Ser polymorphisms, and HNSCC risk. The Sensitivity analysis and publication bias also were performed to guarantee the statistical power. Overall, the pooled OR with 95% CIs indicated that CYP1B1 Leu432Val polymorphism was significantly related with HNSCC risk (for Val vs. Leu: OR = 1.13, 95% CI = 1.03-1.25, P = 0.014, P(heterogeneity) = 0.141; for Val/Val vs. Leu/Leu: OR = 1.30, 95% CI = 1.06-1.60, P = 0.013, P heterogeneity = 0.253; for Val/Val vs. Leu/Leu + Leu/Val: OR = 1.23, 95% CI = 1.05-1.46, P = 0.013, P(heterogeneity) = 0.456). The similar results were also been found in succeeding analysis of HWE and stratified analysis of Caucasian population. Furthermore, no significant association between CYP1B1 Asn453Ser polymorphism and HNSCC risk was found in this meta-analysis. In conclusion, our meta-analysis demonstrates that CYP1B1 Leu432Val polymorphism may be a risk factor for developing HNSCC.
Assuntos
Hidrocarboneto de Aril Hidroxilases/genética , Carcinoma de Células Escamosas/genética , Predisposição Genética para Doença , Neoplasias de Cabeça e Pescoço/genética , Polimorfismo Genético , Estudos de Casos e Controles , Citocromo P-450 CYP1B1 , Humanos , Viés de Publicação , Risco , Carcinoma de Células Escamosas de Cabeça e PescoçoRESUMO
Polycyclic aromatic hydrocarbons (PAH) are widespread pollutants commonly found in air, food, and drinking water. Benzo[a]pyrene is a well-studied representative PAH found in air from fossil fuel combustion and a transplacental carcinogen experimentally. PAHs bind covalently to DNA to form DNA adducts, an indicator of DNA damage, and an informative biomarker of potential cancer risk. Associations between PAH-DNA adduct levels and both cancer risk and developmental deficits have been seen in previous experimental and epidemiologic studies. Several genes have been shown to play an important role in the metabolic activation or detoxification of PAHs, including the cytochrome P450 genes CYP1A1 and CYP1B1 and the glutathione S-transferase (GST) genes GSTM1, and GSTT2. Genetic variation in these genes could influence susceptibility to adverse effects of PAHs in polluted air. Here, we have explored interactions between prenatal PAH exposure and 17 polymorphisms in these genes (rs2198843, rs1456432, rs4646903, rs4646421, rs2606345, rs7495708, rs2472299, rs162549, rs1056837, rs1056836, rs162560, rs10012, rs2617266, rs2719, rs1622002, rs140194, and gene deletion GSTM1-02) and haplotypes on PAH-DNA adducts in cord blood of 547 newborns and in maternal blood of 806 mothers from three different self-described ethnic groups: African Americans, Dominicans, and Caucasians. PAHs were measured by personal air monitoring of mothers during pregnancy. Significant interactions (p < 0.05) were observed between certain genetic polymorphisms and CYP1A1 haplotype and PAHs in mothers and their newborns in the three ethnic groups. However, with our limited sample size, the current findings are suggestive only, warranting further study.
Assuntos
Hidrocarboneto de Aril Hidroxilases/genética , Citocromo P-450 CYP1A1/genética , Adutos de DNA/toxicidade , Neoplasias/genética , Hidrocarbonetos Policíclicos Aromáticos/toxicidade , Polimorfismo de Nucleotídeo Único , Adulto , Negro ou Afro-Americano , Biomarcadores Tumorais/sangue , Carcinógenos/toxicidade , Cromatografia Líquida de Alta Pressão , Citocromo P-450 CYP1B1 , Dano ao DNA , Exposição Ambiental , Feminino , Variação Genética , Genótipo , Glutationa Transferase/genética , Haplótipos , Humanos , Recém-Nascido , Desequilíbrio de Ligação , Masculino , Troca Materno-Fetal , Neoplasias/etnologia , Cidade de Nova Iorque , Polônia , Gravidez , População BrancaRESUMO
PURPOSE: Axenfeld-Rieger (AR) is an autosomal dominant disorder with phenotypic heterogeneity characterized by anterior segment dysgenesis, facial bone defects, and redundant periumbilical skin. The PITX2 gene, on chromosome 4q25, and the FOXC1 gene, on chromosome 6p25, have been implicated in the different phenotypes of the syndrome through mutational events. Recently, the CYP1B1 gene was found to be associated with Peters' anomaly, and the gene associated with oculodentodigital dysplasia syndrome, which presents some similarities with AR, was identified (connexin 43--GJA1 gene). The purpose of this study was to evaluate PITX2, FOXC1, CYP1B1, and GJA1 gene mutations in Brazilian families with AR. METHODS: Eight unrelated patients affected by AR (all eight with glaucoma and three with systemic manifestations) and their families were ophthalmologically evaluated and their blood was collected for DNA extraction purposes. The coding regions of PITX2, FOXC1, CYP1B1, and GJA1 genes were completely evaluated through direct sequencing. RESULTS: The frequency of mutations in the FOXC1, GJA1, PITX2, and CYP1B1 genes in this study were 25%, 12.5%, 0% and 0%, respectively. In the FOXC1 gene, two GGC triplet insertions (GGC375ins and GGC447ins) defined as a polymorphism, and two new mutations--a deletion (718 to 719delCT) and a nonsense mutation (Trp152STOP)--were identified. One polymorphism (Ala253Val) was identified in the GJA1 gene in the same family presenting the Trp152STOP mutation in the FOXC1 gene. In this family harboring both structural alterations, two patients who carried the GJA1 (Ala253Val) and FOXC1 (Trp152STOP) mutations developed less severe glaucoma compared with family members presenting the FOXC1 (Trp152STOP) mutation alone. CONCLUSIONS: Two new structural alterations in the FOXC1 gene and a polymorphism in the GJA1 gene were first described in Brazilian patients with AR and developmental glaucoma. A polymorphism in the GJA1 gene (Ala253Val), for the first time identified in association with AR, raises the possibility of its participation as a modifier gene.