Prevalence of Neutralizing Antibodies against Adeno-Associated Virus Serotypes 1, 2, and 9 in Non-Injected Latin American Patients with Heart Failure-ANVIAS Study.

Neutralizing antibody (NAb) activity against the viral capsid of adeno-associated viral (AAV) vectors decreases transduction efficiency, thus limiting transgene expression. Several reports have mentioned a variation in NAb prevalence according to age, AAV serotype, and, most importantly, geographic location. There are currently no reports specifically describing the anti-AAV NAb prevalence in Latin America. Here, we describe the prevalence of NAb against different serotypes of AAV vectors (AAV1, AAV2, and AAV9) in Colombian patients with heart failure (HF) (referred to as cases) and healthy individuals (referred to as controls). The levels of NAb were evaluated in serum samples of 60 subjects from each group using an in vitro inhibitory assay. The neutralizing titer was reported as the first dilution inhibiting ≥50% of the transgene signal, and the samples with neutralizing titers at ≥1:50 dilution were considered positive. The prevalence of NAb in the case and control groups were similar (AAV2: 43% and 45%, respectively; AAV1 33.3% in each group; AAV9: 20% and 23.2%, respectively). The presence of NAb for two or more of the serotypes analyzed was observed in 25% of the studied samples, with the largest amount in the positive samples for AAV1 (55-75%) and AAV9 (93%), suggesting serial exposures, cross-reactivity, or coinfection. Moreover, patients in the HF group exhibited more common combined seropositivity for NAb against AAV1 d AAV9 than those in the control group (91.6% vs. 35.7%, respectively; p = 0.003). Finally, exposure to toxins was significantly associated with the presence of NAb in all regression models. These results constitute the first report of the prevalence of NAb against AAV in Latin America, being the first step to implementing therapeutic strategies based on AAV vectors in this population in our region.

Patterns of genetic diversity in Colombia for 38 indels used in human identification.

The current population of Colombia has a genetic heterogeneity resulting from different migrations from other continents and within the country. In addition, there are small groups in their territory that have remained isolated and therefore have a different genetic pool in relation to that of the neighbouring urban populations. This population stratification must be considered in forensic analysis, being more complex for markers with marked intercontinental differentiation. In this study, population differentiation in Colombian admixed, native, and Afro-descendant populations was evaluated for a group of 38 indels described for forensic use. Allelic frequencies and parameters of forensic relevance were determined in each of the groups defined based on population differentiation analyses. In addition to the differences found between population groups, the results show that the set of 38 indels analysed could be useful in studies of individual identification in Colombia. The exclusion power presented by this set of markers suggests the need for joint use with other markers, being able to complement the STRs in paternity cases. High levels of both power of discrimination and exclusion were found when complementing the 38 HID-indels with a second multiplex, for a total of 83 indels.

[Mutations in the BRCA1 gene (185delAG and 5382insC) are not present in any of the 30 breast cancer patients analyzed from eastern Colombia]. / Análisis de las mutaciones más frecuentes del gen BRCA1 (185delAG y 5382insC) en mujeres con cancer de mama en Bucaramanga, Colombia.

INTRODUCTION: Breast cancer is considered a worldwide public health problem, and, in Santander Province, Colombia, it is the first leading cause of morbidity and mortality by cancer in women. All cancers are considered genetic diseases, and mutations in BRCA (BReast CAncer) genes raises the risk for breast cancer by 60%-80%. The current study searched for the two most frequent BRCA1 mutations reported in the Breast Cancer Core Information database. OBJECTIVE: The presence of specific mutations (185delAG, exon 2 and 5382insC, exon 20) was determined for the BRCA1 gene in women with familial/hereditary breast cancer. MATERIALS AND METHODS: The sample included 30 female patients using the oncology services in Bucaramanga, eastern Colombia; an informed consent, a questionnaire and a blood sample were obtained from each. The molecular analysis was done with PCR-Mismatch, to detect the insertion or eliminatation of a restriction site, and enzymatic digestion methods (Hinfl or Ddel). RESULTS: Two of the most frequent BRCA1 mutations in the international database were not found in the 30 patients studied. CONCLUSION: Additional mutation screening techniques are necessary involving the entire BRCA1 gene, are necessary in order to better characterize the molecular epidemiology of breast cancer in Bucaramanga, Santander, Colombia.

Adolescent medical care: A priority in family medicine / La atención médica del adolescente: una prioridad en Medicina Familiar

Today's adolescents are, undoubtedly, very different from those attended by the family doctor in the past. Currently, we are facing young people full of ideas, with a lot of personality, who show novel interactions with the world. It is a fact that the care of adolescent patient by family physicians it is performed more frequently and will be further increased by the recent incorporation of the care of adolescent patient to the Instituto Mexicano del Seguro Social (Mexican Institute of Social Security: IMSS). Among the most frequent medical problems of adolescents, the most important are: early pregnancy, depression, violence, use and abuse of alcohol and drugs, and nutrition and eating disorders. It is required an approach to this very complex population. For this reason, family doctors should be open to facilitate dialogue, without making judgments, and with too much empathy. To that end, it is necessary to be updated in all issues that are emerging day by day concerning adolescents.

Los adolescentes de ahora son, sin duda, muy diferentes de aquellos que atendía el médico familiar en épocas pasadas. Actualmente, nos encontramos ante jóvenes llenos de ideas, de personalidad, que presentan nuevos vínculos e interacciones con el mundo. Es un hecho que la atención del paciente adolescente por los médicos familiares se realiza cada vez con mayor frecuencia y se verá incrementada aún más por la reciente incorporación de la atención del adolescente al IMSS. Entre los problemas médicos más frecuentes del adolescente destacan aquellos referentes a embarazos, depresión, violencia, consumo de alcohol y drogas, así como los trastornos de la conducta alimenticia. Se requiere de un acercamiento a esta población, la cual es muy compleja. Por ello, los médicos familiares deben estar abiertos a facilitar el diálogo, sin juzgar y con la máxima empatía posible. Para ello, es necesario estar actualizados en todos los temas que van surgiendo día a día con respecto a los adolescentes.

Prognostic Value of MMP-9 -1562 C/T Gene Polymorphism in Patients With Sepsis.

INTRODUCTION: Matrix metalloproteinase-9 (MMP-9) plays an important role in the pathophysiology of sepsis. A single-nucleotide polymorphism (SNP) at position -1562 (C/T) in the MMP-9 gene has been associated with differential MMP-9 expression, being higher when the -1562 T allele is present. We evaluated the association of the SNP MMP9 -1562 C/T with severity and mortality in patients with sepsis to establish whether the prognosis of the disease is affected. MATERIALS AND METHODS: A case-control study exploratory was carried out in a cohort of infected patients. 540 individuals were selected in total, 270 patients with sepsis and 270 controls (infected but non-septic), classified according to the 2016 consensus (Sepsis-3). The presence of the single-nucleotide polymorphism (SNP; allele T and/or allele C) was determined through analyses of restriction fragment length polymorphism and plasma levels of MMP-9 were determined through enzyme-linked immunosorbent assay immunoassay. RESULTS: SNP MMP-9 -1562 has two known alleles (T and C), with predominance of the C over the T allele; in the group of patients with sepsis, T allele was found in 7.2% of cases, while C allele in the rest (92.8%); in comparison, in the group of infected but non-septic patients, frequencies were 9.4% for T allele and 90.6% for the C allele (P = .33). Also, the presence of the polymorphic T allele was not related to the levels of MMP-9 in patients with sepsis in comparison with infected but non-septic patients 780 (397-1375) ng/mL vs 646 (172-1249) ng/mL (P = .64). There was also no association between the SNP and sepsis mortality (P = .78). CONCLUSIONS: We concluded that there was no association between the SNP MMP9 -1562 C/T and sepsis or between the SNP MMP9 -1562 C/T and sepsis mortality in the Northeastern Colombian septic patient cohort. Further research is needed to clarify the correlation among sepsis, genetic factors with allele T and MMP-9 plasma concentration.

Population-based case-control study of renin-angiotensin system genes polymorphisms and hypertension among Hispanics.

The effect of polymorphisms of the RAS genes on the incidence of hypertension seems to be population-dependent. We studied the effects of the angiotensinogen T174M and M235T, angiotensin converting enzyme insertion/deletion (ACE I/D), and angiotensin II receptor 1 (AT1R) A1166C gene polymorphisms on the risk of hypertension among Hispanics. We selected all cases (n=256) and 257 age and sex group-matched controls from a random sample of free living Colombians (n=2,989). Logistic regression was used to estimate the independent effect of each polymorphism. All polymorphisms were in Hardy-Weinberg equilibrium in controls, with the exception of M235T, which showed a small excess of heterozygotes (p=0.005; disequilibrium coefficient, D=-0.0264). After adjustment for age, sex, body mass index, race, physical activity, family history of hypertension and cardiovascular disease, and other polymorphisms, subjects with the ACE DD genotype were 1.56 times (95% confidence interval [CI]: 1.05, 2.33) more likely to be hypertensive than carriers of the I allele (p=0.03). Also, adjusted systolic and diastolic blood pressure were 4.58 (95% CI: -0.39, 9.56) and 3.32 (95% CI: 0.78, 5.86) mmHg higher in DD homozygous individuals than in carriers of the I allele, respectively. Approximately 15% of the cases of hypertension in this population could be attributed to carriage of the DD genotype. None of the other polymorphisms was associated with either hypertension or blood pressure level. In conclusion, the ACE DD genotype appears to be an independent risk factor for development of hypertension and may explain a significant fraction of incident cases among Hispanics.

Whole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiology.

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by extreme sensitivity to actinic pigmentation changes in the skin and increased incidence of skin cancer. In some cases, patients are affected by neurological alterations. XP is caused by mutations in 8 distinct genes (XPA through XPG and XPV). The XP-V (variant) subtype of the disease results from mutations in a gene (XPV, also named POLH) which encodes for Polη, a member of the Y-DNA polymerase family. Although the presence and severity of skin and neurological dysfunctions differ between XP subtypes, there are overlapping clinical features among subtypes such that the sub-type cannot be deduced from the clinical features. In this study, in order to overcome this drawback, we undertook whole-exome sequencing in two XP sibs and their father. We identified a novel homozygous nonsense mutation (c.897T>G, p.Y299X) in POLH which causes the disease. Our results demonstrate that next generation sequencing is a powerful approach to rapid determination of XP genetic etiology.

Analysis of population genetic structure from Bucaramanga (Colombia) based on gene polymorphisms associated with the regulation of blood pressure.

INTRODUCTION: In spite of nearly 40% of variability in blood pressure being explained by genetic factors, the identification of genes associated with essential high blood pressure is difficult to determine in populations where individuals have different genetic backgrounds. In these circumstances it is necessary to determinate whether the population is sub-structured because this can bias studies associated with this disease. OBJECTIVE: TO DETERMINE THE GENETIC STRUCTURE OF THE POPULATION IN BUCARAMANGA FROM GENETIC POLYMORPHISMS ASSOCIATED WITH THE REGULATION OF BLOOD PRESSURE: 448G>T, 679C>T y 1711C>T from the gene kinase 4 of the dopaminergic receptor linked to the protein G and Glu298Asp, -786T>C and the VNTR of the intron 4 of the gene of endothelial nitric oxide. METHODS: A sample of 552 unrelated individuals was studied through analysis of restriction fragment length polymorphism. The allelic, haplotypic and genotypic frequencies were calculated, the Hardy-Weinberg equilibrium was determined and a molecular analysis of variance was performed to determine the genetic structure. RESULTS: Thirty-eight (38) Haplotypes were identified with GCCTG4b being the most frequent (21.2%). The most diverse polymorphism was 448G>T with a frequency of 49.9% for heterozygous. The six polymorphisms were found in genetic equilibrium and a genetic structure of populations was not evidenced (FST= 0.0038). CONCLUSION: The population studied does not present a genetic sub-structure and the polymorphisms analyzed were found in genetic equilibrium. This indicates that the population mixes randomly and there are no sub-groups capable of affecting the results of the association studies.

INTRODUCCIÓN: A pesar que cerca del 40% de la variabilidad en la presión arterial es explicada por factores genéticos, la identificación de genes asociados a la hipertensión arterial esencial es difícil en poblaciones constituidas por individuos con antecedentes genéticos diferentes; en esta circunstancia se debe determinar si la población está sub-estructurada porque esto puede sesgar los estudios de asociación con esta enfermedad. OBJETIVO: Determinar la estructura genética de la población de Bucaramanga a partir de polimorfismos genéticos asociados con la regulación de la presión arterial: 448G>T, 679C>T y 1711C>T del gen de la quinasa 4 del receptor dopaminérgico acoplado a proteína G y Glu298Asp, -786T>C y el VNTR del intrón 4 del gen de la sintasa de óxido nítrico endotelial. MÉTODOS: Se estudió una muestra de 552 individuos no relacionados mediante análisis de polimorfismos de longitud de fragmentos de restricción. Se calcularon las frecuencias alélicas, haplotípicas y genotípicas, se determinó el equilibrio de Hardy-Weinberg y se realizó un análisis molecular de varianza para determinar la estructura genética. RESULTADOS: Se identificaron 38 haplotipos siendo GCCTG4b el más frecuente (21.2%). El polimorfismo más diverso fue el 448G>T con una frecuencia de heterocigotos del 49.9%. Los seis polimorfismos se encontraron en equilibrio genético y no se evidenció estructura genética poblacional (FST = 0.0038). CONCLUSIÓN: La población estudiada no presenta subestructura genética y los polimorfismos analizados se encontraron en equilibrio genético, lo que indica que la población se mezcla aleatoriamente y no existen subgrupos que puedan afectar los resultados de estudios de asociación.

Validación de la escala UWES-9 en profesionales de la salud en México / Validation of the UWES-9 Scale in Mexican Health Professionals / Validação da escala UWES-9 em profissionais da saúde no México

Objetivo. Examinar las propiedades psicométricas de la escala breve del engagement o entusiasmo laboral en el trabajo (UWES-9) en comparación con la escala original (UWES-15), en una muestra de profesionales de la salud en México. Método. Se aplicaron las escalas UWES-15 y UWES-9 a una muestra de 475 profesionales del sector salud de México, pertenecientes al Instituto Mexicano del Seguro Social (n = 249) y la Secretaría de Salud (n = 226). Resultados. Los resultados del análisis factorial confirmatorio multigrupo confirmaron la estructura trifactorial (vigor, dedicación y absorción) de ambas escalas. Además, la UWES-9 mostró índices de ajuste significativamente mejores que los obtenidos en la versión larga, siendo la estructura invariante en ambas instituciones. Conclusión. Se confirma la validez de la medida breve de la escala UWES en profesionales de la salud mexicanos.

Objective. To examine the psychometric properties of the short scale of engagement at work (UWES-9) compared to the original scale (UWES-15) in a sample of health professionals in Mexico. Method. The UWES-15 and UWES-9 scales were applied in a sample of 475 professionals who belonged to two health institutions in Mexico: Mexican Institute of Social Security (n = 249) and Secretary of Health (n = 226). Results. The results from the MultiGroup Confirmatory Factor Analyses confirmed the three-factorial structure (vigor, dedication and absorption) in both scales. In addition, the UWES-9 showed rates of adjustment significantly better to those obtained in the long version, being the structure invariant in both institutions. Conclusion. The validity of the short measure of the UWES in Mexican health professionals is confirmed.

Escopo. Examinar as propriedades psicométricas da escala breve do engagement ou entusiasmo laboral no trabalho (UWES-9) em comparação com a escala original (UWES-15) numa amostra de profissionais da saúde no México. Metodologia. Foi aplicada a escala UWES-15 e a UWES-9 numa amostra de 475 profissionais do setor saúde do México pertencente ao Instituto Mexicano do Seguro Social (n= 249) e Ministério de Saúde (n=226). Resultados. Os resultados da Análise Fatorial Confirmatório Multi-Grupo confirmaram a estrutura tri-fatorial (vigor, dedicação e absorção) de ambas escalas. Além, a UWES-9 mostrou índices de ajuste significativamente melhores que os obtidos na versão longa, sendo a estrutura invariante em ambas instituições. Conclusão. Foi confirmada a validez da medida breve da escala UWES em profissionais da saúde mexicanos.

Empleados saludables y calidad de servicio en el sector sanitario / Healthy Employees and Service Quality in Health Care settings

En este estudio se analiza el papel mediador de los afectos positivos y el engagement en el trabajo entre creencias de eficacia y calidad de servicio (desempeño, compromiso, calidad percibida) en el personal sanita-rio (N = 154) de un hospital de la Comunidad Valenciana. Basado en el Modelo de Organizaciones Saludables y Resilientes (HERO) (Salanova, Llorens, Cifre, y Martínez, 2012) análisis de ecuaciones estructurales y booststrapping revelan que el afecto positivo y el engagement en el trabajo media entre las creencias de eficacia y la calidad de servicio. Concretamente, aquellos empleados con mayores creencias de eficacia, presentan mayor afecto positivo y más engagement en el trabajo que a su vez, se relaciona positivamente con mayor calidad de servicio

In this case study, we analyze the mediating role of positive affects and work engagement among efficacy beliefs and service quality (performance, commitment, perceived quality) of health professionals (N = 154) from a hospital in Valencia. Based on Healthy & Resilient Organizations Model (HERO; Salanova, Llorens, Cifre, & Martinez, 2012), structural equations and booststrapping analysis revealed that positive affect and work engagement mediates between the efficacy beliefs and service quality. Specifically, those employees with high efficacy beliefs, showed high positive affect and more work engagement, which in turn was positively related to higher service quality

Genetic profile characterization and segregation analysis of 10 X-STRs in a sample from Santander, Colombia.

Ten X-chromosome short tandem repeats (X-STRs: DXS8378, DXS7132, DXS9898, DXS6809, DXS6789, DXS101, GATA172D05, HPRTB, DXS8377, and DXS7423) were analyzed in a sample of unrelated individuals (108 males and 110 females) from the Santander Department in Colombia. In this sample, gene diversities varied between 63.56%, for DXS8378, and 91.41%, for DXS8377. For this set of 10 X-STRs, a high discrimination power was obtained for both male (1 in 3 x 10(6)) and female (1 in 9 x 10(10)) samples and a high mean exclusion chance in father/daughter duos (99.993%) and in father/mother/daughter trios (99.9999%), demonstrating the usefulness of this set of markers in forensic and kinship analysis. Hardy-Weinberg equilibrium was tested in the female sample and no significant deviations were found. Pairwise analysis showed significant differences in the comparison with samples from Spain, Peru, and Argentina and with African American and Hispanic samples from New York. This same set of X-STRs was also typed in 51 mother/father/daughter trios, 43 mother/son duos, and in a single father/daughter pair. In total, four mutations were observed; one at DXS7132 and at DXS6809, and two at DXS8377. Two mutations were paternal and one maternal; and to a fourth mutation, it was not possible to define its origin.

Análisis de la videograbación como estrategia educativa en la especialidad de medicina familiar en México / Analysis of video recording as an educational strategy in the family medicine specialty in Mexico

Objetivo: incrementar la adquisición de competencias profesionales en los estudiantes de médicina familiar ubicados mayoritariamente en sedes académicas cuya supervisión y asesoría resulta difícil, por distancia, ubicación geográfica y turno laboral. Métodos: se creó un grupo de expertos integrado por nueve profesores que incluyó a tres especialistas en medicina familiar, dos terapeutas familiares, un subespecialista en orientación familiar, un maestro en educación médica, un psiquiatra y una psicóloga. Su misión fue desarrollar un instrumento piloto, que permitiera apreciar la práctica profesional de los médicos a través de los videos. Finalmente, se decidió valorar cinco dimensiones: 1. Imagen personal y profesional, 2. Imagen del consultorio, 3. Comunicación verbal y no verbal, 4. Práctica clínica y 5. Abordaje familiar. Se describen cada una de las dimensiones valoradas. Resultados: se obtuvo una herramienta valiosa para el proceso de enseñanza aprendizaje en medicina familiar, que permitió mejorar las habilidades y destrezas del médico en el abordaje del paciente y la familia así como el asesoramiento del profesor al alumno en el desarrollo de las habilidades clínicas y las actitudes en la consulta cotidiana. Conclusiones: la herramienta presentada es una estrategia educativa que busca finalmente, incrementar las capacidades del médico familiar para que pueda otorgar una mejor atención al paciente y su familia(AU)

Objective: to increase the acquisition of professional competences in those family medicine students who are mostly located in academic institutions and are difficult to be supervised and advised, due to distance, geographic location and work shifts. Methods: a group of experts made up of nine professors including three family medicine specialists, two family therapists, a family counseling specialist, a medical education professor, a psychiatrist and a psychologist was created. The mission of this group was to develop a pilot instrument that allows observing the professional practice of the physicians through videos. Finally, five dimensions were chosen to be assessed: 1- personal and professional image, 2- the physician's office image, 3- verbal and non-verbal communication, 4-Clinical practice and 5-Family approach. All these assessed dimensions were described in the paper. Results: a valuable tool for the teaching/learning process was obtained. It allowed improving the abilities and dexterities of the physician in dealing with the patient and the family, as well as the possibilities of the professor for giving advice to the student in terms of development of clinical abilities and individual attitudes in the daily medical work. Conclusions: the tool described in this paper is an educational strategy aimed at increasing the capacities of the family physicians to provide better care to their patients and families(AU)

Análisis de la videograbación como estrategia educativa en la especialidad de medicina familiar en México / Analysis of video recording as an educational strategy in the family medicine specialty in Mexico

Objetivo: incrementar la adquisición de competencias profesionales en los estudiantes de médicina familiar ubicados mayoritariamente en sedes académicas cuya supervisión y asesoría resulta difícil, por distancia, ubicación geográfica y turno laboral. Métodos: se creó un grupo de expertos integrado por nueve profesores que incluyó a tres especialistas en medicina familiar, dos terapeutas familiares, un subespecialista en orientación familiar, un maestro en educación médica, un psiquiatra y una psicóloga. Su misión fue desarrollar un instrumento piloto, que permitiera apreciar la práctica profesional de los médicos a través de los videos. Finalmente, se decidió valorar cinco dimensiones: 1. Imagen personal y profesional, 2. Imagen del consultorio, 3. Comunicación verbal y no verbal, 4. Práctica clínica y 5. Abordaje familiar. Se describen cada una de las dimensiones valoradas. Resultados: se obtuvo una herramienta valiosa para el proceso de enseñanza aprendizaje en medicina familiar, que permitió mejorar las habilidades y destrezas del médico en el abordaje del paciente y la familia así como el asesoramiento del profesor al alumno en el desarrollo de las habilidades clínicas y las actitudes en la consulta cotidiana. Conclusiones: la herramienta presentada es una estrategia educativa que busca finalmente, incrementar las capacidades del médico familiar para que pueda otorgar una mejor atención al paciente y su familia

Objective: to increase the acquisition of professional competences in those family medicine students who are mostly located in academic institutions and are difficult to be supervised and advised, due to distance, geographic location and work shifts. Methods: a group of experts made up of nine professors including three family medicine specialists, two family therapists, a family counseling specialist, a medical education professor, a psychiatrist and a psychologist was created. The mission of this group was to develop a pilot instrument that allows observing the professional practice of the physicians through videos. Finally, five dimensions were chosen to be assessed: 1- personal and professional image, 2- the physician's office image, 3- verbal and non-verbal communication, 4-Clinical practice and 5-Family approach. All these assessed dimensions were described in the paper. Results: a valuable tool for the teaching/learning process was obtained. It allowed improving the abilities and dexterities of the physician in dealing with the patient and the family, as well as the possibilities of the professor for giving advice to the student in terms of development of clinical abilities and individual attitudes in the daily medical work. Conclusions: the tool described in this paper is an educational strategy aimed at increasing the capacities of the family physicians to provide better care to their patients and families

Analysis of population genetic structure from Bucaramanga (Colombia) based on gene polymorphisms associated with regulation of blood pressure / Análisis de la estructura genética poblacional a partir de polimorfismos de genes asociados con la regulación de la presión arterial en una muestra de Bucaramanga, Colombia

Introduction: In spite nearly 40% of the variability in blood pressure can be explained by genetic factors, the identification of genes associated to essential high blood pressure is difficult in populations where individuals have different genetic precedents; in these circumstances it is necessary to determinate whether the population is sub-structured because this can bias studies associated with this disease.Objectives: To determine the genetic structure of the population in Bucaramanga from genetic polymorphisms associated with the regulation of blood pressure: 448G>T, 679C>T y 1711C>T from the gene kinase 4 of the dopaminergic receptor linked to the protein G and Glu298Asp, -786T>C and the VNTR of the intron 4 of the gene of endothelial nitric oxide.Methodology: A sample of 552 unrelated individuals was studied through analysis of Restriction fragment length polymorphism. The allelic, haplotypic and genotypic frequencies were calculated, the Hardy-Weinberg equilibrium was determined and a molecular analysis of variance was performed to determine the genetic structure.Results: 38 Haplotypes were identified, with GCCTG4b as the most frequent (21.2%). The most diverse polymorphism was 448G>T with a frequency of 49.9% for heterozygous. The six polymorphisms were found in genetic equilibrium and genetic structure of populations was not evidenced (FST = 0,0038).Conclusion: The population studied does not present a genetic sub-structure and the polymorphisms analyzed were found in genetic equilibrium, this indicates that the population mixes randomly and there are no sub-groups capable of affecting the results of the association studies

Análisis de la ira en pacientes con cardiopatía isquémica de la ciudad de Medellín (Colombia) / Analysis of anger in patients with ischemie heart disease

Este estudio tuvo como objetivo comparar los niveles de ira, y sus componentes, entre un grupo de personas con Cardiopatía Isquémica y un grupo control sin esta enfermedad. Participaron 90 pacientes con cardiopatía isquémica de la Clínica Cardiovascular en Medellín y 78 controles sin la enfermedad. A cada uno de los participantes de les administró la prueba del STAXI- 2. Los resultados muestran que, comparado con los controles, los pacientes con cardiopatía isquémica tuvieron niveles significativamente más altos de ira como rasgo (p < 0.01), específicamente en la subescala reacción de ira (p < 0.05), y expresión interna de ira (p < 0.05). Los pacientes con cardiopatía isquémica experimentan más frecuentemente sentimientos de ira (ira rasgo), aparentemente debido a que son más sensibles a las críticas de los demás (reacción de ira), pero tienden a suprimir la expresión de esta emoción (expresión de ira interna). Estos datos confirman la necesidad de implementar programas dirigidos al manejo adecuado de la ira en estos pacientes y entender mejor las implicaciones que pueda tener la ira en la progresión de su enfermedad.

Objective: To compare levels of anger, and its components, between a group of Colombians individuals with coronary heart disease and a healthy control group. Measures: Each participant was administered the STAXI-2. Results: Compared to controls, patients with coronary artery disease had significantly higher Trait Anger (p < 0.01), specifically the Angry Reaction sub-scale (p < 0.05), and Anger Expression-In (p < 0.05). Conclusion: Patients with coronary artery disease experience more frequent feelings of anger (trait anger), apparently because they are more sensitive to criticism (angry reaction), but they tend to suppress the expression of their anger (anger expression -in). These results confirm the need for implementing anger management programs with these patients and gain a better understanding of how anger/hostility might influence the progression of their disease.

Análisis de las mutaciones más frecuentes del gen BRCA1 (185delAG y 5382insC) en mujeres con cáncer de mama en Bucaramanga, Colombia / Mutations in the BRCA1 gene (185delAG and 5382insC) are not present in any of the 30 breast cancer patients analyzed from eastern Colombia

Introducción. El cáncer de mama es un problema de salud pública a nivel mundial y en Santander es la primera causa de morbimortalidad por cáncer en mujeres. Todo cáncer se considera una enfermedad genética y las mutaciones en los genes BRCA confieren un riesgo de 60% a 80% para el cáncer de mama. Este estudio consistió en buscar las dos mutaciones BRCA1 más frecuentes según la base de datos Breast Cancer Core Information. Objetivo. Determinar la presencia de mutaciones específicas (185delAG, exón 2, y 5382insC, exón 20) en el gen BRCA1 en mujeres con cáncer de mama heredo-familiar, atendidas en los diferentes servicios de oncología de Bucaramanga, Colombia. Materiales y métodos. La muestra incluyó 30 pacientes, de las cuales se obtuvo un consentimiento informado, un cuestionario dirigido y sangre venosa para los estudios moleculares. El análisis molecular se realizó mediante PCR-mismatch, para introducir o eliminar sitios de restricción, y digestión enzimática (HinfI o DdeI). Resultados. No se detectaron dos de las mutaciones más frecuentes en el gen BRCA1 en las 30 pacientes estudiadas. Conclusión. Se requieren más estudios en la región que abarquen la tamización de la totalidad del gen BRCA1, para hacer una mayor contribución al conocimiento de la epidemiología molecular del cáncer de mama en Bucaramanga, Santander, Colombia.

Introduction. Breast cancer is considered a worldwide public health problem, and, in Santander Province, Colombia, it is the first leading cause of morbidity and mortality by cancer in women. All cancers are considered genetic diseases, and mutations in BRCA (BReast CAncer) genes raises the risk for breast cancer by 60%-80%. The current study searched for the two most frequent BRCA1 mutations reported in the Breast Cancer Core Information database.Objective. The presence of specific mutations (185delAG, exon 2 and 5382insC, exon 20) was determined for the BRCA1 gene in women with familial/hereditary breast cancer. Materials and methods. The sample included 30 female patients using the oncology services in Bucaramanga, eastern Colombia; an informed consent, a questionnaire and a blood sample were obtained from each. The molecular analysis was done with PCR-Mismatch, to detect the insertion or eliminatation of a restriction site, and enzymatic digestion methods (HinfI or DdeI).Results. Two of the most frequent BRCA1 mutations in the international database were not found in the 30 patients studied. Conclusion. Additional mutation screening techniques are necessary involving the entire BRCA1 gene, are necessary in order to better characterize the molecular epidemiology of breast cancer in Bucaramanga, Santander, Colombia.