RESUMEN
Intrauterine growth restriction (IUGR) is related to a higher risk of neonatal mortality, minor cognitive deficit, metabolic syndrome, and cardiovascular disease in adulthood. In previous studies, genetic variants in the FTO (fat mass and obesity-associated) and PPARγ (peroxisome proliferator-activated receptor-gamma) genes have been associated with metabolic disease, body mass index, and obesity among other outcomes. We studied the association of selected FTO (rs1421085, rs55682395, rs17817449, rs8043757, rs9926289, and rs9939609) and PPARγ (rs10865710, rs17036263, rs35206526, rs1801282, rs28763894, rs41516544, rs62243567, rs3856806, and rs1805151) single-nucleotide polymorphisms (SNPs) with IUGR, through a case-control study in a cohort of live births that occurred from June 1978 to May 1979 in a Brazilian city. We selected 280 IUGR cases and 256 controls for analysis. Logistic regression was used to jointly analyze the SNPs as well as factors such as maternal smoking, age, and schooling. We found that the PPARγ rs41516544 increased the risk of IUGR for male offspring (OR 27.83, 95%CI 3.65-212.32) as well as for female offspring (OR=8.94, 95%CI: 1.96-40.88). The FTO rs9939609 TA genotype resulted in a reduced susceptibility to IUGR for male offspring only (OR=0.47, 95%CI: 0.26-0.86). In conclusion, we demonstrated that PPARγ SNP had a positive effect and FTO SNP had a negative effect on IUGR occurrence, and these effects were gender-specific.
Asunto(s)
Dioxigenasa FTO Dependiente de Alfa-Cetoglutarato , PPAR gamma , Adulto , Dioxigenasa FTO Dependiente de Alfa-Cetoglutarato/genética , Índice de Masa Corporal , Brasil/epidemiología , Estudios de Casos y Controles , Femenino , Retardo del Crecimiento Fetal/genética , Predisposición Genética a la Enfermedad/genética , Genotipo , Humanos , Masculino , PPAR gamma/genética , Polimorfismo de Nucleótido Simple/genéticaRESUMEN
Intrauterine growth restriction (IUGR) is related to a higher risk of neonatal mortality, minor cognitive deficit, metabolic syndrome, and cardiovascular disease in adulthood. In previous studies, genetic variants in the FTO (fat mass and obesity-associated) and PPARγ (peroxisome proliferator-activated receptor-gamma) genes have been associated with metabolic disease, body mass index, and obesity among other outcomes. We studied the association of selected FTO (rs1421085, rs55682395, rs17817449, rs8043757, rs9926289, and rs9939609) and PPARγ (rs10865710, rs17036263, rs35206526, rs1801282, rs28763894, rs41516544, rs62243567, rs3856806, and rs1805151) single-nucleotide polymorphisms (SNPs) with IUGR, through a case-control study in a cohort of live births that occurred from June 1978 to May 1979 in a Brazilian city. We selected 280 IUGR cases and 256 controls for analysis. Logistic regression was used to jointly analyze the SNPs as well as factors such as maternal smoking, age, and schooling. We found that the PPARγ rs41516544 increased the risk of IUGR for male offspring (OR 27.83, 95%CI 3.65-212.32) as well as for female offspring (OR=8.94, 95%CI: 1.96-40.88). The FTO rs9939609 TA genotype resulted in a reduced susceptibility to IUGR for male offspring only (OR=0.47, 95%CI: 0.26-0.86). In conclusion, we demonstrated that PPARγ SNP had a positive effect and FTO SNP had a negative effect on IUGR occurrence, and these effects were gender-specific.
Asunto(s)
Humanos , Masculino , Femenino , Adulto , PPAR gamma/genética , Dioxigenasa FTO Dependiente de Alfa-Cetoglutarato/genética , Brasil/epidemiología , Índice de Masa Corporal , Estudios de Casos y Controles , Predisposición Genética a la Enfermedad/genética , Polimorfismo de Nucleótido Simple/genética , Retardo del Crecimiento Fetal/genética , GenotipoRESUMEN
Natal and neonatal teeth are those which are present in the oral cavity at the time of birth and within thirty days of birth. They are likely to be associated with traumatic sublingual ulceration caused to the suckling as well as movements of the tongue. The treatment of choice is mostly conservative whenever possible. The purpose of this report is to present a case of traumatic sublingual ulceration in a twenty days old baby. The lesion resolved soon after the offending tooth was removed.
RESUMEN
PURPOSE: The fusion gene BCR-ABL has an important role to the progression of chronic myeloid leukemia (CML) and several signaling pathways have been characterized as responsible for the terminal blastic phase (BP). However, the initial phase, the chronic phase (CP), is long lasting and there is much yet to be understood about the critical role of BCR-ABL in this phase. This study aims to evaluate transcriptional deregulation in CD34+ hematopoietic cells (CD34+ cells) from patients with untreated newly diagnosed CML compared with CD34+HC from healthy controls. METHODS: Gene expression profiling in CML-CD34 cells and CD34 cells from healthy controls were used for this purpose with emphasis on five main pathways important for enhanced proliferation/survival, enhanced self-renewal and block of myeloid differentiation. RESULTS: We found 835 genes with changed expression levels (fold change ≥ ±2) in CML-CD34 cells compared with CD34 cells. These include genes belonging to PI3K/AKT, WNT/b-catenin, SHH, NOTCH and MAPK signaling pathways. Four of these pathways converge to MYC activation. We also identified five transcripts upregulated in CD34-CML patients named OSBPL9, MEK2, p90RSK, TCF4 and FZD7 that can be potential biomarkers in CD34-CML-CP. CONCLUSION: We show several mRNAs up- or downregulated in CD34-CML during the chronic phase.
Asunto(s)
Biomarcadores de Tumor/genética , Leucemia Mielógena Crónica BCR-ABL Positiva/genética , Transducción de Señal/genética , Transcriptoma , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Antígenos CD34 , Quinasas MAP Reguladas por Señal Extracelular/genética , Quinasas MAP Reguladas por Señal Extracelular/metabolismo , Femenino , Proteínas Hedgehog/genética , Proteínas Hedgehog/metabolismo , Células Madre Hematopoyéticas/patología , Humanos , Leucemia Mielógena Crónica BCR-ABL Positiva/metabolismo , Leucemia Mielógena Crónica BCR-ABL Positiva/patología , Masculino , Persona de Mediana Edad , Fosfatidilinositol 3-Quinasas/genética , Fosfatidilinositol 3-Quinasas/metabolismo , Proteínas Proto-Oncogénicas c-akt/genética , Proteínas Proto-Oncogénicas c-akt/metabolismo , Receptores Notch/genética , Receptores Notch/metabolismo , Vía de Señalización Wnt/genética , Adulto JovenRESUMEN
This study investigated potential differences in Ideological/Occupational and Interpersonal ego-identity among Anglo-American and Mexican-American adolescents. Subjects were 841 9th-12th graders attending high school in a southwestern state. All students were administered the Extended Objective Measure of Ego Identity Status to determine their level of identity diffusion, foreclosure, moratorium, and identity achievement. Multivariate analyses of co-variance with discriminant analysis were conducted separately for the two types of identity. Mothers' and fathers' education were included as covariates. Results indicated that Mexican-American youth are more foreclosed than Anglo-American youth in Ideological/Occupational identity, and may therefore be more inclined to adopt their parents' commitments to religious and political beliefs, occupational preferences, and philosophical lifestyles. Results also indicated that Mexican-American youth differ from Anglo-American youth in Interpersonal Identity as a function of grade. Discussion focused on interpretation of these results from both cultural and minority status perspectives.