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1.
Genet Mol Res ; 15(3)2016 Jul 15.
Artículo en Inglés | MEDLINE | ID: mdl-27525841

RESUMEN

Some cases of recurrent first trimester miscarriage have a thrombotic etiology. The aim of this study was to investigate the prevalence of the most common thrombophilic mutations - factor V (FV) Leiden G1691A (FVL), prothrombin (FII) G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T - in women with recurrent miscarriages. In this case-control study, we included 137 women with two or more consecutive first-trimester miscarriages (£12 weeks of gestation) and 100 healthy women with no history of pregnancy loss, and with at least one living child. DNA was extracted from the patient samples, and the relevant genes (FVL, FII, and MTHFR) were amplified by PCR, followed by restriction fragment length polymorphism, to assess the polymorphisms in these genes. The allelic frequencies of polymorphisms were not significantly different between the case and control groups. Polymorphisms in the MTHFR, FVL, and FII genes were not associated with recurrent miscarriage during the first trimester of pregnancy in Brazilian women (P = 0.479; P = 0.491 and P = 0.107, respectively). However, the etiologic identification of genetic factors is important for genetic counseling.


Asunto(s)
Aborto Habitual/genética , Factor V/genética , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Polimorfismo de Longitud del Fragmento de Restricción , Protrombina/genética , Adulto , Estudios de Casos y Controles , Femenino , Frecuencia de los Genes , Humanos , Embarazo
2.
Mol Biol Rep ; 41(3): 1871-7, 2014 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-24435975

RESUMEN

The p53 protein is known for performing essential functions in the maintenance of genomic stability in somatic cells and prevention of tumor formation. Studies of the p53 signaling pathway have suggested associations between some polymorphisms and infertility, post-in vitro fertilization implantation failure and recurrent abortions. The TP53 Pro72Arg polymorphism has been implicated as a risk factor for recurrent pregnancy loss (RPL); however, the association is controversial. In this study, our objective was to evaluate selected polymorphisms in genes of the p53 signalling pathway [TP53 c.215G>C (Pro72Arg), MDM2 c.14+309T>G (SNP309) and LIF c.1414T>G in the region 3' UTR] and determine their effect as risk factors for RPL. In a case-control study, we investigated 120 women with two or more pregnancy losses and 143 fertile control women reporting at least two live births and no history of pregnancy loss. When analyzed separately, the allele and genotype distributions of the polymorphisms in the two groups were not different. However, in a multivariate analysis adjusted for alcohol consumption, smoking, ethnicity, and number of pregnancies, the interaction between the genotypes TP53 Arg/Arg (rs1042522) and MDM2 TT (rs2279744) showed to be associated to RPL, increasing the risk for this condition (OR = 2.58, 95% CI: 1.31-5.07, p = 0.006). In conclusion, our study indicates that the combination of TP53 Arg/Arg (rs1042522) and MDM2 TT (rs2279744) genotypes may be a risk factor for RPL.


Asunto(s)
Aborto Habitual/genética , Predisposición Genética a la Enfermedad , Proteínas Proto-Oncogénicas c-mdm2/genética , Proteína p53 Supresora de Tumor/genética , Aborto Habitual/patología , Alelos , Estudios de Casos y Controles , Etnicidad , Femenino , Estudios de Asociación Genética , Humanos , Polimorfismo de Nucleótido Simple , Embarazo , Factores de Riesgo , Transducción de Señal/genética
3.
Genet Mol Res ; 12(1): 562-8, 2013 Feb 27.
Artículo en Inglés | MEDLINE | ID: mdl-23512673

RESUMEN

The endothelial nitric oxide synthase (eNOS) plays an important homeostatic role in the cardiovascular system (CVS) by maintaining appropriate blood pressure through production of nitric oxide. The 894TT genotype of 894G>T (Glu298Asp, rs1799983), a polymorphic variant of eNOS, has been associated with several vascular diseases. On the basis of this strong relationship, we monitored daily 585 critically ill adult patients according to their degree of CVS dysfunction and investigated their disease progression by the 894G>T genotype. To obtain information of the general population, we obtained the 894G>T genotypic and allelic frequencies in a random group of 149 healthy subjects. The patients were genotyped for the eNOS 894G>T polymorphism and daily evaluated according to their degree of CVS dysfunction through the Cardiovascular Sequential Organ Failure Assessment (SOFA) score. The mean value of the global CVS dysfunction score was significantly higher in 894TT patients (1.35 ± 0.57) than in non-894TT patients (1.23 ± 0.37; P = 0.035). This score remained significantly higher in 894TT patients, even in different patient clusters (all patients, septic, and non-septic patients) during the 1st week at the intensive care unit (1.86 ± 0.8 versus 1.63 ± 0.62, P = 0.005; 2.32 ± 0.10 versus 2.06 ± 0.08, P = 0.009; 0.84 ± 0.09 versus 0.64 ± 0.08, P = 0.027; respectively). This result shows that the mean values of the cardiovascular SOFA score were higher in 894TT patients in all subgroups. The present study provides evidence that the 894TT eNOS genotype is associated with a higher degree of CVS dysfunction in critically ill patients.


Asunto(s)
Sistema Cardiovascular/metabolismo , Unidades de Cuidados Intensivos/estadística & datos numéricos , Óxido Nítrico Sintasa de Tipo III/genética , Polimorfismo de Nucleótido Simple , Adulto , Anciano , Sistema Cardiovascular/patología , Sistema Cardiovascular/fisiopatología , Enfermedad Crítica , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad/genética , Humanos , Desequilibrio de Ligamiento , Masculino , Persona de Mediana Edad , Índice de Severidad de la Enfermedad
4.
Quintessence Int ; 32(6): 463-8, 2001 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-11491626

RESUMEN

OBJECTIVE: The objective of the present study was to clinically evaluate the hybrid materials Vitremer and Dyract when used as pit and fissure sealants. METHOD AND MATERIALS: The materials were applied in pairs on the mandibular permanent first molars of 100 children, 7 to 8 years old. RESULTS: After 12 months of sealing, the clinical evaluation presented rates of 95.9% and 85.7% of complete retention for Dyract and Vitremer, respectively, indicating a statistically significant difference. The hybrid materials presented a statistically significant protective effect against caries compared with the control group at 6 and 12 months. CONCLUSION: The hybrid materials were able to control occlusal caries.


Asunto(s)
Recubrimiento Dental Adhesivo , Caries Dental/prevención & control , Cementos de Ionómero Vítreo/uso terapéutico , Selladores de Fosas y Fisuras/uso terapéutico , Cementos de Resina/uso terapéutico , Grabado Ácido Dental , Estudios de Casos y Controles , Niño , Compómeros/uso terapéutico , Resinas Compuestas/uso terapéutico , Amalgama Dental , Restauración Dental Permanente , Estudios de Seguimiento , Humanos , Metacrilatos/uso terapéutico , Diente Molar , Oportunidad Relativa , Silicatos/uso terapéutico , Propiedades de Superficie
5.
J Oral Rehabil ; 27(12): 1064-7, 2000 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-11251778

RESUMEN

The flow rate capacity, hydrolytic degradation and radiopacity of three resin-based cements were tested and compared with zinc phosphate cement, when used in accordance with the manufacturer's instructions. There are no significant differences among the cements with regard to the flow rate. The zinc phosphate cement showed superior hydrolytic degradation compared with the other cements tested. The cements presented different radiopacities and the zinc phosphate cement was the most radiopaque. The results suggest that the development of resin-based materials associated with adhesive procedures can increase the effectiveness of indirect restorations.


Asunto(s)
Cementos de Resina/química , Análisis de Varianza , Fenómenos Químicos , Química Física , Medios de Contraste , Hidrólisis , Ensayo de Materiales , Reología , Estadísticas no Paramétricas , Cemento de Fosfato de Zinc
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