Prevalence of BRCA1 and BRCA2 Germline Mutations in Patients of African Descent with Early-Onset and Familial Colombian Breast Cancer.

BACKGROUND: Pathogenic germline mutations in the BRCA1 and BRCA2 (BRCA1/2) genes contribute to hereditary breast/ovarian cancer (OC) in White/mestizo Colombian women. As there is virtually no genetic data on breast cancer (BC) in Colombians of African descent, we conducted a comprehensive BRCA1/2 mutational analysis of 60 Afro-Colombian families affected by breast/OC. MATERIALS AND METHODS: Mutation screening of the complete BRCA1/2 genes for small-scale mutations and large genomic alterations was performed in these families using next-generation sequencing and multiplex ligation-dependent probe amplification analysis. RESULTS: Four pathogenic germline mutations, including one novel mutation, were identified, comprising 3 in BRCA1 and one in BRCA2. The prevalence of BRCA1/2 mutations, including one BRCA1 founder mutation (c.5123C>A) previously identified in this sample set, was 3.9% (2/51) in female BC-affected families and 33.3% (3/9) in those affected by both breast and OC. Haplotype analysis of 2 BRCA2_c.2701delC carriers (one Afro-Colombian and one previously identified White/mestizo Colombian patient with BC) suggested that the mutation arose in a common ancestor. CONCLUSION: Our data showed that 2/5 (40%) mutations (including the one previously identified in this sample set) are shared by White/mestizo Colombian and Afro-Colombian populations. This suggests that these 2 populations are closely related. Nevertheless, variations in the BRCA1/2 mutational spectrum among Afro-Colombian subgroups from different regions of the country were observed, suggesting that specific genetic risk assessment strategies need to be developed.

Hypofractionation as a solution to radiotherapy access in latin america: expert perspective.

Background: Limited radiation therapy resources have resulted in an interest in developing time and cost-saving innovations to expand access to cancer treatment, in Latin America. Therefore, hypofractionated radiotherapy (HRT) is a possible solution, as this modality delivers radiation over a shorter period of time. Materials and methods: A selected panel of Latin American (LA) experts in fields related to HRT were provided with a series of relevant questions to address, prior to the multi-day conference. Within this meeting, each narrative was discussed and edited, through numerous rounds of discussion, until agreement was achieved. Results: The challenges identified in increasing the adoption of HRT in LA include a lack of national and regional clinical practice guidelines and cancer registries; a lack of qualified human resources and personnel education; high up-front costs of equipment; disparate resource distribution and scarce HRT research. An analysis for these overarching challenges was developed and answered with recommendations. Conclusion: Extending the adoption of HRT in LA can provide a path forward to increase access to radiotherapy and overcome the shortage of equipment. HRT has the potential to improve population health outcomes and patient centered care, while offering comparable local control, toxicity, palliation, and late effects for multiple indications, when compared to conventional RT. Concerted efforts from all involved stakeholders are needed to overcome the barriers in adopting this strategy in LA countries. The recommendations presented in this article can serve as a plan of action for HRT adoption in other countries in a similar situation.

Radiation Oncology Workforce in Colombia.

Colombia is experiencing an epidemiologic transition, with an increasing incidence of cancerous neoplasms prevalent in high-income countries, while infection-associated tumors remain highly prevalent. According to international standards, Colombia has a deficit of radiotherapy machines (a shortage of about 47 machines) and radiation oncology specialists (a shortage of about 19 to 149 specialists based on number of centers and incident cases, respectively) to meet the national demand, which may induce an inappropriate dynamic in radiation oncology services. Estimates based on cancer incidence trends and the rate of new specialists in radiation oncology expected to graduate per year suggest that the current deficit will remain unchanged or may even increase during the next decades. The situation is critical because of the existence of a single training program in the country for a population of 45 million inhabitants and the low availability of educational programs offered in the Latin American region to cover the national demand. A comprehensive analysis of radiotherapy services should include data on medical physicists, radiotherapists, and the oncology nursing workforce; however, we found no reliable information available. A better balance between the educational programs offered and the demand for radiotherapy is highly valuable.

Manejo del cáncer de próstata oligometastásico: Una perspectiva del radioterapeuta / Management of oligometastatic prostate cancer: A radiation therapist's perspective

La definición de enfermedad oligometastásica actual, corresponde a aquella enfermedad metastásica susceptible de ser tratada con una terapia ablativa - sin importar el número de lesiones -, siendo aun controvertido, si se incluye o no, el compromiso a nivel hepático. Siempre que se hace referencia a esta enfermedad, se debe subclasificar en sincrónica o metacrónica, esto debido a su pronóstico.[1] Los grupos de pronóstico en cáncer de próstata metastásico sensible a la castración se han basado en el número y distribución de metástasis. Si bien hay varios grupos, consorcios o colaboraciones que han evaluado esto como SWOG, MDACC, CHAARTED y LATITUDE, independientemente de la definición, los pacientes con pobre pronóstico o enfermedad de alto volumen, presentan desenlaces oncológicos más pobres en comparación con aquellos de bajo volumen.

The current definition of oligometastatic disease corresponds to metastatic disease that can be treated with ablative therapy - regardless of the number of lesions - and it is still controversial whether or not liver involvement is included. Whenever reference is made to this disease, it should be subclassified into synchronous or metachronous, due to its prognosis.[1]. Prognostic groups in metastatic castration-sensitive prostate cancer have been based on the number and distribution of metastases. While there are several groups, consortia or collaborations that have evaluated this such as SWOG, MDACC, CHAARTED and LATITUDE, regardless of the definition, patients with poor prognosis or high volume disease have poorer oncologic outcomes compared to those with low volume.

Relación del consumo de VO2pico y el porcentaje de masa muscular en adultos que habitan sobre 2600 M. S. N. M / relationship of vo2 max consumption and muscle mass amiong adults living in altitudes over 2600 MAMSL

Introducción: la reducción de la capacidad oxidativa del músculo con el envejecimiento parece jugar un papel importante en la vejez disminuyendo hasta 50%. En zonas elevadas sobre el nivel del mar se producen cambios en la dinámica del oxígeno arterial que se relacionan con el metabolismo del músculo y la sarcopenia. Objetivos: determinar si hay relación entre el VO2pico y el porcentaje de masa muscular, nivel de actividad física e IMC, en adultos que habitan en regiones superiores a 2600 metros sobre el nivel del mar. Metodología: estudio descriptivo de tipo transversal, se incluyeron participantes sin sarcopenia mayores de 50 años, con mínimo un año de residencia en Bogotá, Colombia. Se excluyeron participantes con terapia de reemplazo hormonal, tensión arterial elevada durante la prueba, enfermedad coronaria, valvular o trastornos de la conducción. Se determinó el nivel de actividad física aplicando la encuesta Ainsworthy col, la composición corporal con bioimpedanciometría y VO2pico mediante ergoespirometría. Resultados: la muestra fue de 21 participantes. La mitad de lapoblación mostró VO2pico de 23.7 ml/k/min, IMC de 27.2g/m2 y porcentaje de masa muscular de 35.5%; hay baja correlación entre VO2pico y el porcentaje de masa muscular. La mitad de la población saludable tiene un VO2pico de 28.9 ml/k/min, sedentaria saludable 23.7 ml/k/min y sedentaria riesgosa 21.6 ml/k/min. Conclusiones: el presente estudio mostró que hay baja correlación entre el porcentaje de masa muscular y el VO2pico, sin embargo estos resultados pudieron estar influenciados por el tamaño de la muestra y otros factores.

Introduction: the decrease of muscle oxidative capacity with aging appears to play an important role in old age and is observed to decline by 50%. Changes in arterial oxygen dynamics related to muscle metabolism and sarcopenia are evidenced in high altitudes. Objectives: to determine if there is a relationship between VO2max and muscle mass, physical activity and BMI, in adults living in altitudes over 2600 MAMSL. Methodology: descriptive cross-sectional study in older than 50 years subjects without sarcopenia, who had lived in Bogota, Colombia for at least one year. Subjects with hormone replacement therapy or high blood pressure during this test, coronary artery or valvular heart disease or conduction disorders, were excluded. Physical activity was determined applying the Ainsworthy et al. survey, body composition by bioelectrical impedance analysis and VO2max by ergospirometry. Results: sample size was 21 participants. Half of the population showed a VO2max of 23.7 ml/k/min, BMI of 27.2g/m2 and muscle mass of 35.5%. A low correlation between VO2max and muscle mass was evidenced. Half of the healthy population had a VO2max of 28.9 ml/k/min, healthy sedentary subjects 23.7 ml/k/min and sedentary subjects with risk factors 21.6 ml/k/min. Conclusions: this study showed a low correlation between muscle mass and VO2max. However, these results could have been influenced by the sample size and other factors.

Inestabilidad microsatelital y cáncer gástrico / Microsatellite instability and gastric cancer

La inestabilidad microsatelital es causada por una alteración de los sistemas de reparación de apareamiento incorrecto, que puede afectar los microsatélites dentro de todo el genoma humano, produciendo errores en su replicación. Los estudios publicados, principalmente en la literatura inglesa, han encontrado que algunos tumores, como los gástricos, pueden expresar inestabilidad microsatelital. En la siguiente revisión de tema, se presenta una descripción de los sistemas de reparación de apareamientos incorrectos y su relación con la presencia de inestabilidad microsatelital en los tumores gástricos, así como su posible utilidad clínica, como factor asociado en la respuesta al tratamiento con inmunoterapia en los pacientes con dicha patología

Microsatellite instability is caused by an alteration of the mismatch repair systems, which can affect microsatellites within the entire human genome, causing errors in their replication. Published studies, mainly in the English literature, have found that some tumors, such as gastric ones, can express microsatellite instability. In this review, a description of the mismatch repair systems and their relationship with the presence of microsatellite instability in gastric tumors is presented, as well as its possible clinical utility, as an associated factor in the response to immunotherapy treatment, in patients with gastric cancer

Sarcopenia versus caquexia / Sarcopenia versus cachexia

Las enfermedades crónicas y la edad se asocian con deterioro del estado nutricional, pérdida de masa, fuerza muscular, alteración en la calidad de vida y aumento en morbilidad y mortalidad. Se revisan la definición y los criterios para diferenciar caquexia de sarcopenia. Es importante investigar los factores asociados con pérdida de las reservas grasas y de tejido muscular en las dos situaciones, para desarrollar estrategias terapéuticas y preventivas en adultos sanos y con patologías. El consenso europeo (2010) sobre las alteraciones de la masa muscular determinó los criterios para diferenciar caquexia y sarcopenia. La primera se consideró complicación tardía e inevitable de distintas patologías crónicas. Recientes evidencias clínicas y experimentales indican que los mecanismos involucrados en su aparición operan en forma temprana y sugieren intervenciones adecuadas que podrían prevenir o demorar la aparición de este síndrome...

Chronic diseases and aging are associated with deterioration of nutritional status, loss of muscle mass and function, impaired quality of life and increased risk for morbidity and mortality. This paper reports the definition of cachexia and sarcopenia, as well as, the criteria for the differentiation between them. Investigating the factors associated to the loss of fat and muscle tissue in both conditions to develop therapeutic and preventive strategies in healthy and ill adults, is very important. The 2010 European consensus on muscle mass alterations determined the differentiation criteria for cachexia and sarcopenia. Cachexia has been considered a late and ineluctable event complicating many chronic diseases. Recent clinical and experimental evidences indicate that mechanisms involved are operating early during the disease, suggesting that appropriate interventions might be effective in preventing or delaying the onset of this syndrome...

Glaucoma primario crónico para el médico de atención primaria / Chronic primary glaucoma for physicians in primary settings

Los glaucomas crónicos son enfermedades que afectan el nervio óptico, pudiendo llevar a serias secuelas visuales. En este artículo hacemos una revisión sobre estas enfermedades. Debido a que en general son inicialmente asintomáticas, se requiere un alto índice de sospecha para diagnosticarlas tempranamente, y el médico de atención primaria debe jugar un papel importante en su detección precoz. En este artículo revisamos libros de texto reconocidos y empleando MEDLINE, artículos representativos sobre este tema y mostramos un panorama general del estado actual, clínico e investigativo, del diagnóstico y tratamiento de los glaucomas primarios crónicos. [Galvis V, Tello A, Rueda JC, Parra JC, Valarezo P, Álvarez L. Glaucoma primario crónico para el médico de atención primaria. MedUNAB 2009; 12:144-150].

Chronic glaucomas are diseases affecting the optic nerve. In this article we make a review of the epidemiology and pathophysiology of those diseases. Since they are in general not symptomatic it is necesary to have a high suspicion index to detect them early, and the primary care physician has an important role in this early detection. In this article we reviewed recognized textbooks and using MEDLINE we found some representative articles on this subject. We provide an overview of the current clinical and research status on the diagnosis and treatment of chronic primary glaucomas. [Galvis V, Tello A, Rueda JC, Parra JC, Valarezo P, Álvarez L. Chronic primary glaucoma for physicians in primary settings. MedUNAB 2009; 12:144-150].