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1.
Genet Mol Res ; 15(3)2016 Jul 15.
Article in English | MEDLINE | ID: mdl-27525841

ABSTRACT

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.


Subject(s)
Abortion, Habitual/genetics , Factor V/genetics , Methylenetetrahydrofolate Reductase (NADPH2)/genetics , Polymorphism, Restriction Fragment Length , Prothrombin/genetics , Adult , Case-Control Studies , Female , Gene Frequency , Humans , Pregnancy
2.
Mol Biol Rep ; 41(3): 1871-7, 2014 Mar.
Article in English | MEDLINE | ID: mdl-24435975

ABSTRACT

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.


Subject(s)
Abortion, Habitual/genetics , Genetic Predisposition to Disease , Proto-Oncogene Proteins c-mdm2/genetics , Tumor Suppressor Protein p53/genetics , Abortion, Habitual/pathology , Alleles , Case-Control Studies , Ethnicity , Female , Genetic Association Studies , Humans , Polymorphism, Single Nucleotide , Pregnancy , Risk Factors , Signal Transduction/genetics
3.
Genet Mol Res ; 12(1): 562-8, 2013 Feb 27.
Article in English | MEDLINE | ID: mdl-23512673

ABSTRACT

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.


Subject(s)
Cardiovascular System/metabolism , Intensive Care Units/statistics & numerical data , Nitric Oxide Synthase Type III/genetics , Polymorphism, Single Nucleotide , Adult , Aged , Cardiovascular System/pathology , Cardiovascular System/physiopathology , Critical Illness , Female , Gene Frequency , Genetic Predisposition to Disease/genetics , Humans , Linkage Disequilibrium , Male , Middle Aged , Severity of Illness Index
4.
Quintessence Int ; 32(6): 463-8, 2001 Jun.
Article in English | MEDLINE | ID: mdl-11491626

ABSTRACT

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.


Subject(s)
Dental Bonding , Dental Caries/prevention & control , Glass Ionomer Cements/therapeutic use , Pit and Fissure Sealants/therapeutic use , Resin Cements/therapeutic use , Acid Etching, Dental , Case-Control Studies , Child , Compomers/therapeutic use , Composite Resins/therapeutic use , Dental Amalgam , Dental Restoration, Permanent , Follow-Up Studies , Humans , Methacrylates/therapeutic use , Molar , Odds Ratio , Silicates/therapeutic use , Surface Properties
5.
J Oral Rehabil ; 27(12): 1064-7, 2000 Dec.
Article in English | MEDLINE | ID: mdl-11251778

ABSTRACT

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.


Subject(s)
Resin Cements/chemistry , Analysis of Variance , Chemical Phenomena , Chemistry, Physical , Contrast Media , Hydrolysis , Materials Testing , Rheology , Statistics, Nonparametric , Zinc Phosphate Cement
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