Agregación familiar para la hipertensión arterial / Family aggregation of arterial hypertension

Introducción: La hipertensión arterial es una de las enfermedades crónicas causada por la interacción de los factores etiopatogénicos genéticos y ambientales. Objetivo: Determinar la existencia de agregación familiar en la hipertensión arterial. Material y Métodos: Se realizó un estudio observacional analítico de casos y controles, para determinar la agregación familiar de la hipertensión arterial. El universo estuvo constituido por todos los pacientes (257) con factores de riesgo de hipertensión arterial; la muestra quedó conformada por 60 pacientes distribuidos en 30 pacientes hipertensos (casos) y 30 pacientes sin el diagnostico (controles). La información recogida se procesó mediante la utilización del paquete estadístico Epinfo. Resultados: En el grupo casos, predominaron familiares de primer grado con antecedentes de hipertensión (43,9 por ciento) y para los controles, los familiares de grado 2 fueron los que representaron 44,1 por ciento. Los malos hábitos dietéticos se presentaron como el factor de riesgo de mayor frecuencia en ambos grupos con 28,7 por ciento y 47,5 por ciento, respectivamente. Para los pacientes con antecedentes familiares positivos (OR= 1,93, p= 0,008 IC 95 por ciento=1,18-3,16) tuvieron más riesgo de padecer hipertensión al igual que para el factor de riesgo obesidad (OR= 9,03, IC 95 por ciento= 2,80-29,1 p =0,0001). Conclusiones: Se determinó la existencia de agregación familiar para la hipertensión arterial, con mayor riesgo de padecer la enfermedad en las personas con historia familiar en primer grado positiva para la hipertensión y la presencia de obesidad(AU)

Introduction: Arterial hypertension is one of the chronic diseases caused by the interaction of genetic and environmental etiopathogenic factors. Objective: To determine the existence of family aggregation of arterial hypertension. Material and Methods: A cross-sectional analytical study of cases and controls was carried out to determine the family aggregation of arterial hypertension. The universe consisted of all (257) patients diagnosed with risk factors for high blood pressure; the sample was made up of 60 patients distributed in 30 hypertensive patients (cases) and 30 patients without diagnosis (controls). The information collected was processed using the Epi info statistical software. Results: In the group of cases, first-degree relatives with history of hypertension predominated (43.9 percent ). In the group of controls, second-degree relatives represented the 44.1 percent . Bad dietary habits were presented as the most frequent risk factor in both groups with 28.7 percent and 47.5 percent , respectively. Patients with positive family history (OR= 1.93, p = 0.008 95 percent CI = 1.18-3.16) and those suffering from obesity (OR = 9.03, 95 percent CI = 2.80-29.1 p = 0.0001) were at higher risk of developing hypertension. Conclusions: The existence of family aggregation of arterial hypertension was determined. People with first-degree positive family history of hypertension and presenting obesity were at higher risk of suffering from the disease(AU)

Role of genetic variability in Mendelian and multifactorial diseases

The first draft of the human genome sequencing published in 2001 reported a large number of single nucleotide polymorphisms (SNPs). Given that these polymorphisms could practically represent all the variability involved in the susceptibility, protection, severity, among other aspects, of various common diseases, as well as in their response to medications, it was thought that they might be “the biomarkers of choice” in personalized genomic medicine. With the new information obtained from the sequencing of a larger number of genomes, we have understood that SNPs are only an important part of the genetic markers involved in these traits. In addition to SNPs, other variants have been identified, such as insertions/deletions (INDELs) and copy number variants (CNVs), which – in addition to classic variable number tandem repeats (VNTRs) and short tandem repeats (STRs) – originate or contribute to the development of diseases. The use of these markers has served to identify regions of the genome involved in Mendelian diseases (one gene-one disease) or genes directly associated with multifactorial diseases. This review has the purpose to describe the role of STRs, VNTRs, SNPs, CNVs and INDELs in linkage and association studies and their role in Mendelian and multifactorial diseases.

SEM Evaluation of the effect of root conditioning with citric acid: An In-Vitro study

Background Root conditioning agents reveal the orifices of dentinal tubules and the dentin collagen matrix and provide a substrate which plays a role chemotaxis migration and proliferation of cells involved in periodontal healing and formation of new connective tissue attachment. Materials and methods A total of 15 extracted teeth which were periodontally involved were utilised for the study. All the teeth received 25% citric acid application. The samples were subjected to scanning electron microscope evaluation. The photomicrographs were analysed by image software analyser to assess its surface area. Results Group II showed better results for mean surface area. Conclusion: These results show that citric acid could be a better healing biomaterial in periodontal regeneration by increasing surface area.

Agregación familiar en pacientes con hipertensión arterial / Family Aggregation in Patients with Arterial Hypertension

Introducción: actualmente, la hipertensión arterial es considerada como un trastorno poligénico y multifactorial, en el cual la interacción de múltiples genes entre sí y con el medio ambiente es importante. Objetivos: describir el comportamiento de la agregación familiar de la hipertensión arterial. Métodos: se realizó un estudio observacional, descriptivo, de corte transversal en el Policlínico Alex Urquiola en el periodo de enero a agosto de 2016. El universo de estudio estuvo constituido por los 54 pacientes y la muestra por 20, seleccionados a través de muestreo de tipo probabilístico aleatorio simple. Se les aplicó una encuesta estructurada y se realizó análisis informático de los resultados. Resultados: el grupo etario predominante fue el de 50 a 59 años (55 por ciento); mientras que el grupo menos representado fue el de 30 a 39 años (10 por ciento). En cuanto al grado de parentesco con los familiares hipertensos, predominaron los que tenían familiares de II grado (55 por ciento). El sedentarismo predominó como factor de riesgo. Conclusiones: se demostró agregación familiar para la hipertensión arterial en estas familias. Predominaron el grado de parentesco II y el factor de riesgo sedentarismo. Considerándose importante la prevención primaria en cada área de salud, para poder modificar factores de riesgo(AU)

Introduction: Hypertension is nowadays considered a polygenic and multifactorial disorder, in which the interaction of multiple genes with one other and with the environment is important. Objectives: To describe the behavior of family aggregation of arterial hypertension. Methods: An observational, descriptive, cross-sectional study was performed Alex Urquiola Polyclinic, from January to August 2016. The study universe consisted of 54 patients and the sample consisted of 20 patients, chosen by simple probabilistic randomization. They were given a structured survey, after which we carried out the computerized analysis of the results. Results: The predominant age group was 50-59 years (55 percent), while the least represented group corresponded to the ages 30-39 years (10 percent). As for the degree of kinship to hypertensive relatives, there was a predominance of those who had relatives of grade II (55 percent). The sedentary lifestyle predominated as a risk factor. Conclusions: Family aggregation for hypertension was proved in these families. The was a predominance of the second degree of relation and sedentary risk factors. We consider that primary prevention is important in each health area, for the modification of risk factors(AU)

Genetic components in diabetic retinopathy.

Diabetic retinopathy (DR) is a serious complication of diabetes, which is fast reaching epidemic proportions worldwide. While tight glycemic control remains the standard of care for preventing the progression of DR, better insights into DR etiology require understanding its genetic basis, which in turn may assist in the design of novel treatments. During the last decade, genomic medicine is increasingly being applied to common multifactorial diseases such as diabetes and age‑related macular degeneration. The contribution of genetics to the initiation and progression of DR has been recognized for some time, but the involvement of specific genes and genetic variants remains elusive. Several investigations are currently underway for identifying DR susceptibility loci through linkage studies, candidate gene approaches, and genome‑wide association studies. Advent of next generation sequencing and high throughput genomic technologies, development of novel bioinformatics tools and collaborations among research teams should facilitate such investigations. Here, we review the current state of genetic studies in DR and discuss reported findings in the context of biochemical, cell biological and therapeutic advances. We propose the development of a consortium in India for genetic studies with large cohorts of patients and controls from limited geographical areas to stratify the impact of the environment. Uniform guidelines should be established for clinical phenotyping and data collection. These studies would permit identification of genetic loci for DR susceptibility in the Indian population and should be valuable for better diagnosis and prognosis, and for clinical management of this blinding disease.