19 research outputs found
Vitamin D-Related Single Nucleotide Polymorphisms as Risk Biomarker of Cardiovascular Disease
Cardiovascular diseases (CVDs) are a group of disorders of the heart and blood vessels.
In addition to environmental risk factors, genetic predisposition increases the risk; this includes
alterations in the vitamin D receptor gene (VDR). These alterations play a key role in modifying
vitamin D uptake, being able to modify its function and increasing susceptibility to cardiovascular
disorders. The aim of this study was to evaluate the association of polymorphisms in the VDR
gene and risk of CVD in a Caucasian population. A retrospective case-control study was conducted
comprising 246 CVD patients and 246 controls of Caucasian origin from Southern Spain. The
genetic polymorphisms BsmI (rs1544410), TaqI (rs731236), ApaI (rs7975232), FokI (rs2228570) and
Cdx2 (rs11568820) were determined by means of real-time polymerase chain reaction (PCR) for allelic
discrimination using TaqMan® probes. The logistic regression analysis adjusted for body mass index
and diabetes revealed that the TT genotype was associated with a higher risk of CVD in both the
genotypic model (p = 0.0430; OR = 2.30; 95% CI = 1.06–5.37; TT vs. CC) and the recessive model
(p = 0.0099; OR = 2.71; 95% CI = 1.31–6.07; TT vs. C). Haplotype analysis revealed that the haplotype
GAC (p = 0.047; OR = 0.34; 95% CI = 0.12–0.98) was associated with increased risk of CVD. The
VDR polymorphisms FokI (rs2228570) was significantly associated with the development of CVD. No
influence was observed of the VDR polymorphisms BsmI (rs1544410), TaqI (rs731236), ApaI (rs7975232)
and Cdx2 (rs11568820) on the risk of developing CVD in the patients studied.ERDF funds (EU) from the Instituto de Salud Carlos III PT13/0010/003
Single Nucleotide Polymorphisms in the Vitamin D Metabolic Pathway and Their Relationship with High Blood Pressure Risk
High blood pressure (HBP) is the leading risk factor for cardiovascular disease (CVD) and
all-cause mortality worldwide. The progression of the disease leads to structural and/or functional
alterations in various organs and increases cardiovascular risk. Currently, there are significant
deficiencies in its diagnosis, treatment, and control. Vitamin D is characterized by its functional
versatility and its involvement in countless physiological processes. This has led to the association
of vitamin D with many chronic diseases, including HBP and CVD, due to its involvement in the
regulation of the renin–angiotensin–aldosterone system. The aim of this study was to evaluate the
effect of 13 single nucleotide polymorphisms (SNPs) related to the vitamin D metabolic pathway
on the risk of developing HBP. An observational case-control study was performed, including
250 patients diagnosed with HBP and 500 controls from the south of Spain (Caucasians). Genetic
polymorphisms in CYP27B1 (rs4646536, rs3782130, rs703842, and rs10877012), CYP2R1 rs10741657,
GC rs7041, CYP24A1 (rs6068816, and rs4809957), and VDR (BsmI, Cdx2, FokI, ApaI, and TaqI) were
analyzed by real-time PCR using TaqMan probes. Logistic regression analysis, adjusted for body
mass index (BMI), dyslipidemia, and diabetes, showed that in the genotypic model, carriers of the
GC rs7041 TT genotype were associated with a lower risk of developing HBP than the GG genotype
(odds ratio (OR) = 0.44, 95% confidence interval (CI): 0.41–0.77, p = 0.005, TT vs. GG). In the dominant
model, this association was maintained; carriers of the T allele showed a lower risk of developing
HBP than carriers of the GG genotype (OR = 0.69, 95% CI: 0.47–1.03; TT + TG vs. GG, p = 0.010).
Finally, in the additive model, consistent with previous models, the T allele was associated with a
lower risk of developing HBP than the G allele (OR = 0.65, 95% CI: 0.40–0.87, p = 0.003, T vs. G).
Haplotype analysis revealed that GACATG haplotypes for SNPs rs1544410, rs7975232, rs731236,
rs4646536, rs703842, and rs10877012 were associated with a marginally significant lower risk of
developing HBP (OR = 0.35, 95% CI: 0.12–1.02, p = 0.054). Several studies suggest that GC 7041 is
associated with a lower active isoform of the vitamin D binding protein. In conclusion, the rs7041
polymorphism located in the GC gene was significantly associated with a lower risk of developing
HBP. This polymorphism could therefore act as a substantial predictive biomarker of the disease.ERDF funds (EU) from the Instituto de Salud Carlos III (PT13/0010/0039) supported by
co-funding grants from the Biobank of the Hospital Universitario Virgen de las Nieves
Single Nucleotide Polymorphisms in the Vitamin D Metabolic Pathway as Survival Biomarkers in Colorectal Cancer
Several studies have suggested that single nucleotide polymorphisms (SNPs) related to
vitamin D metabolism may affect CRC carcinogenesis and survival. The aim of this study was to
evaluate the influence of 13 SNPs involved in the vitamin D metabolic pathway on CRC survival. We
conducted an observational retrospective cohort study, which included 127 Caucasian CRC patient
from the south of Spain. SNPs in VDR, CYP27B1, CYP2R1, CYP24A1, and GC genes were analyzed
by real-time polymerase chain reaction. Progression-free survival (PFS) and overall survival (OS)
were assessed. Cox regression analysis adjusted for metastasis, age of diagnosis, stage (IIIB, IV or
IVB), ECOG score (2–4), lymph node involvement, adjuvant chemotherapy, and no family history of
CRC showed that the VDR ApaI (p = 0.036), CYP24A1 rs6068816 (p < 0.001), and GC rs7041 (p = 0.006)
were associated with OS in patients diagnosed with CRC, and CYP24A1 rs6068816 (p < 0.001) was
associated with PFS adjusted for metastasis, age of diagnosis, stage (IIIB, IV or IVB), ECOG score
(2–4), lymph node involvement, adjuvant chemotherapy, and no primary tumor resection. The rest of
the SNPs showed no association with CRC survival. Thus, the SNPs mentioned above may have a
key role as prognostic biomarkers of CRCERDF funds (EU)Instituto de Salud Carlos III (PT13/0010/0039)Biobank of the University Hospital Virgen de las Nieve
Blood RNA sequencing reveals immunological processes associated with the response to abatacept in rheumatoid arthritis.
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Colección de infografías II Parte Seguimiento de medios
de comunicación 2017-2019Fil: Ferreyra, Horacio Ademar. Universidad Católica de Córdoba. Facultad de Educación; ArgentinaFil: Di Francesco, Adriana Carlota. Universidad Católica de Córdoba. Facultad de Educación; ArgentinaFil: Equipo de investigación en educación de adolescentes y jóvenes. Unidad Asociada CONICET. Universidad Católica de Córdoba. Facultad de Educación; Argentina
Origen, evolución y resultados de la actividad arqueológica española en territorio italiano
Trabajo presentado a las Jornadas Excavaciones arqueológicas españolas en Italia. Diez años de investigación, celebradas en la Escuela Española de Historia y Arqueología en Roma el 18 y 19 de noviembre de 2008.Peer reviewe
Implicación del patrón radiológico en el pronóstico de los tumores oligodendrogliales: correlación con el perfil genético
Introducción. La codeleción 1p19q (LOH1p19q) confiere a los tumores oligodendrogliales quimiosensibilidad y un mejor pronóstico en relación con otros gliomas. La investigación dirigida a identificar características radiológicas asociadas a LOH1p19q ha despertado gran interés en los últimos años. Objetivos. Confirmar la existencia de heterogeneidad regional de los parámetros moleculares en los gliomas oligodendrogliales, valorar la asociación entre el perfil genético y determinadas características radiológicas y clínicas, y analizar el valor pronóstico de éstas. Pacientes y métodos. Se incluyeron 54 pacientes tratados según un protocolo preestablecido común. Se valoraron las secuencias T1, con/sin gadolinio, y T2 de la resonancia magnética preoperatoria a ciegas de la información molecular y clínica. El análisis de LOH se efectuó sobre muestras pareadas de ADN tumoral y genómico. Resultados. La presencia de LOH1p se halló fuertemente asociada a LOH19q (p < 0,0001). LOH1p19q resultó más frecuente en los tumores situados en el lóbulo frontal (odds ratio, OR = 5,38; intervalo de confianza del 95%, IC 95% = 1,51-19,13; p = 0,007) y sin necrosis radiológica (OR = 0,17; IC 95% = 0,03-0,80; p = 0,02). La localización frontal (riesgo relativo, RR = 4,499; IC 95% = 1,027-193,708; p = 0,046), la necrosis radiológica (RR = 0,213; IC 95% = 0,065-0,700; p = 0,011) y el grado de resección (RR = 9,231; IC 95% = 1,737-49,050; p = 0,009) resultaron factores pronósticos independientes de supervivencia global. Conclusiones. En los tumores oligodendrogliales, además del análisis histológico y el estudio genético-molecular, la valoración de determinadas características radiológicas puede resultar de gran utilidad para definir subgrupos de pacientes con pronóstico y respuesta al tratamiento similares. Los esfuerzos deben dirigirse, por tanto, hacia la utilización combinada de todos los recursos disponibles en cada centro
[Recommendations for the prevention of organic foreign bodies aspiration]
Foreign body aspiration remains a common and potentially serious pediatric problem. Most aspirated foreign bodies are food. The education of parents and caregivers about choking hazards and how to avoid them is critical to reduce the incidence of these events. The pediatricians play a key role in promoting injury prevention. We indicate the main characteristics of hazardous food and we present recommendations on age-appropriate meals, adequate forms of food preparation and behavioral rules at mealtimes in order to reduce food choking