Identificación de microdeleciones y microduplicaciones asociadas a la aparición de tetralogía de Fallot en individuos del sur occidente colombian

Introducción: las cardiopatías congénitas son todos los defectos estructurales o funcionales del corazón que se encuentran presentes al momento del nacimiento. Estos defectos se originan por la formación anormal del corazón o de los grandes vasos sanguíneos, presentando una incidencia mundial que varía entre 8 a 75 por cada 1000 recién nacidos vivos. De estas condiciones la tetralogía de Fallot es la cardiopatía congénita cianosante más frecuente, siendo responsable de 5-8% de todas las cardiopatías y en 1 de cada 10.000 nacidos vivos. Con la evolución de las técnicas de diagnóstico como la hibridación genómica comparativa, nuevas anormalidades submicroscópicas han sido reconocidas como una importante causa. Este proyecto de investigación busca identificar microdeleciones y microduplicaciones reportadas como asociadas a cardiopatías complejas tipo tetralogía de Fallot mediante la aplicación de las pruebas de amplificación de sondas dependiente de ligandos múltiples e hibridación genómica comparativa Array, en individuos atendidos en un centro de referencia de la ciudad de Cali en el período 2011-2015. Metodología: se identificaron los pacientes con diagnóstico de Tetralogía de Fallot, que fueron valorados por los servicios de cardiología pediátrica y genética clínica de la Fundación Clínica Valle del Lili durante el periodo comprendido desde enero del año 2011, hasta enero del año 2015. A los pacientes reclutados se les realizaron estudios de cariotipo bandeo G con el propósito de identificar cromosomopatías asociadas a la presencia de cardiopatías complejas. Aquellos pacientes con resultado negativo fueron posteriormente evaluados mediante las técnicas de amplificación de sondas dependiente de ligandos múltiples para deleción 22q11, y subsiguientemente mediante estudios de Hibridación Genómica Comparativa Array, para la identificación de microdelecciones/duplicaciones que estén asociadas a la presencia de la patología a estudio. Resultados: Se identificarón 161 pacientes, de los cuales 35 participarón en el estudio. El cariotipo bandeo G identificó 29 individuos con cariotipo normal, cuatro casos de trisomía del cromosoma 21; y dos casos de mosaicismo genético entre los cuales se incluye un caso de mosaico de síndrome de Down, con fórmula cromosómica 46,XX[23]/47,XX+21[2]; y un caso 46XX (46, XX, der(7)t(7;14)(q36;q21)[1]/46, XX [99]). 31 pacientes son valorados mediante amplificación de sondas dependiente de ligandos múltiples, de los cuales 9 presentaron hallazgos positivos para deleción de la región 22q11. A 14 pacientes se les realizarón estudios de Hibridación Genómica Comparativa Array, de los cuales un caso de síndrome por deleción 19p13.3, región que también compromete el gen STK11, asociado al síndrome de Peutz Jegher; tres casos de síndrome por duplicación 9q34.3; y un caso de síndrome por deleción 18p-. Conclusión: En los pacientes estudiados la causa etiológica más importante asociada a tetralogía de Fallot fue el síndrome por deleción 22q11. Se identificaron 4 casos (11.4%) de pacientes con trisomía 21; y 14 casos (40%) asociados a síndromes por microdeleción o microduplicación génica, de los cuales 9 casos (25.7%) corresponden a síndrome por deleción 22q11. Adicionalmente en 5 casos (14.3%) se identificaron microdeleciones o microduplicaciones en regiones previamente asociadas con fenotipo de tetralogía de Fallot (no sindrómica).MaestríaMAGISTER EN CIENCIAS BIOMÉDICA

Data Assimilation as a Tool to Improve Chemical Transport Models Performance in Developing Countries

Particulate matter (PM) is one of the most problematic pollutants in urban air. The effects of PM on human health, associated especially with PM of ≤2.5μm in diameter, include asthma, lung cancer and cardiovascular disease. Consequently, major urban centers commonly monitor PM2.5 as part of their air quality management strategies. The Chemical Transport models allow for a permanent monitoring and prediction of pollutant behavior for all the regions of interest, different to the sensor network where the concentration is just available in specific points. In this chapter a data assimilation system for the LOTOS-EUROS chemical transport model has been implemented to improve the simulation and forecast of Particulate Matter in a densely populated urban valley of the tropical Andes. The Aburrá Valley in Colombia was used as a case study, given data availability and current environmental issues related to population expansion. Using different experiments and observations sources, we shown how the Data Assimilation can improve the model representation of pollutants

Desafíos actuales de la educación superior

El presente libro corresponde al trabajo investigativo realizado por sus autores frente a los desafíos que enfrenta y enfrentará la educación en tiempos actuales (provisional)

Pooled analysis of WHO Surgical Safety Checklist use and mortality after emergency laparotomy

Background The World Health Organization (WHO) Surgical Safety Checklist has fostered safe practice for 10 years, yet its place in emergency surgery has not been assessed on a global scale. The aim of this study was to evaluate reported checklist use in emergency settings and examine the relationship with perioperative mortality in patients who had emergency laparotomy. Methods In two multinational cohort studies, adults undergoing emergency laparotomy were compared with those having elective gastrointestinal surgery. Relationships between reported checklist use and mortality were determined using multivariable logistic regression and bootstrapped simulation. Results Of 12 296 patients included from 76 countries, 4843 underwent emergency laparotomy. After adjusting for patient and disease factors, checklist use before emergency laparotomy was more common in countries with a high Human Development Index (HDI) (2455 of 2741, 89.6 per cent) compared with that in countries with a middle (753 of 1242, 60.6 per cent; odds ratio (OR) 0.17, 95 per cent c.i. 0.14 to 0.21, P <0001) or low (363 of 860, 422 per cent; OR 008, 007 to 010, P <0.001) HDI. Checklist use was less common in elective surgery than for emergency laparotomy in high-HDI countries (risk difference -94 (95 per cent c.i. -11.9 to -6.9) per cent; P <0001), but the relationship was reversed in low-HDI countries (+121 (+7.0 to +173) per cent; P <0001). In multivariable models, checklist use was associated with a lower 30-day perioperative mortality (OR 0.60, 0.50 to 073; P <0.001). The greatest absolute benefit was seen for emergency surgery in low- and middle-HDI countries. Conclusion Checklist use in emergency laparotomy was associated with a significantly lower perioperative mortality rate. Checklist use in low-HDI countries was half that in high-HDI countries.Peer reviewe

Omecamtiv mecarbil in chronic heart failure with reduced ejection fraction, GALACTIC‐HF: baseline characteristics and comparison with contemporary clinical trials

Aims: The safety and efficacy of the novel selective cardiac myosin activator, omecamtiv mecarbil, in patients with heart failure with reduced ejection fraction (HFrEF) is tested in the Global Approach to Lowering Adverse Cardiac outcomes Through Improving Contractility in Heart Failure (GALACTIC‐HF) trial. Here we describe the baseline characteristics of participants in GALACTIC‐HF and how these compare with other contemporary trials. Methods and Results: Adults with established HFrEF, New York Heart Association functional class (NYHA) ≥ II, EF ≤35%, elevated natriuretic peptides and either current hospitalization for HF or history of hospitalization/ emergency department visit for HF within a year were randomized to either placebo or omecamtiv mecarbil (pharmacokinetic‐guided dosing: 25, 37.5 or 50 mg bid). 8256 patients [male (79%), non‐white (22%), mean age 65 years] were enrolled with a mean EF 27%, ischemic etiology in 54%, NYHA II 53% and III/IV 47%, and median NT‐proBNP 1971 pg/mL. HF therapies at baseline were among the most effectively employed in contemporary HF trials. GALACTIC‐HF randomized patients representative of recent HF registries and trials with substantial numbers of patients also having characteristics understudied in previous trials including more from North America (n = 1386), enrolled as inpatients (n = 2084), systolic blood pressure &lt; 100 mmHg (n = 1127), estimated glomerular filtration rate &lt; 30 mL/min/1.73 m2 (n = 528), and treated with sacubitril‐valsartan at baseline (n = 1594). Conclusions: GALACTIC‐HF enrolled a well‐treated, high‐risk population from both inpatient and outpatient settings, which will provide a definitive evaluation of the efficacy and safety of this novel therapy, as well as informing its potential future implementation

Global variation in anastomosis and end colostomy formation following left-sided colorectal resection

Background End colostomy rates following colorectal resection vary across institutions in high-income settings, being influenced by patient, disease, surgeon and system factors. This study aimed to assess global variation in end colostomy rates after left-sided colorectal resection. Methods This study comprised an analysis of GlobalSurg-1 and -2 international, prospective, observational cohort studies (2014, 2016), including consecutive adult patients undergoing elective or emergency left-sided colorectal resection within discrete 2-week windows. Countries were grouped into high-, middle- and low-income tertiles according to the United Nations Human Development Index (HDI). Factors associated with colostomy formation versus primary anastomosis were explored using a multilevel, multivariable logistic regression model. Results In total, 1635 patients from 242 hospitals in 57 countries undergoing left-sided colorectal resection were included: 113 (6·9 per cent) from low-HDI, 254 (15·5 per cent) from middle-HDI and 1268 (77·6 per cent) from high-HDI countries. There was a higher proportion of patients with perforated disease (57·5, 40·9 and 35·4 per cent; P < 0·001) and subsequent use of end colostomy (52·2, 24·8 and 18·9 per cent; P < 0·001) in low- compared with middle- and high-HDI settings. The association with colostomy use in low-HDI settings persisted (odds ratio (OR) 3·20, 95 per cent c.i. 1·35 to 7·57; P = 0·008) after risk adjustment for malignant disease (OR 2·34, 1·65 to 3·32; P < 0·001), emergency surgery (OR 4·08, 2·73 to 6·10; P < 0·001), time to operation at least 48 h (OR 1·99, 1·28 to 3·09; P = 0·002) and disease perforation (OR 4·00, 2·81 to 5·69; P < 0·001). Conclusion Global differences existed in the proportion of patients receiving end stomas after left-sided colorectal resection based on income, which went beyond case mix alone

Prenatal diagnosis of 69XXX triploidy

Triploidia es la anormalidad cromosómica que se caracteriza por la presencia de un set extra de cromosomas haploides, evento que toma lugar en aproximadamente1-3% de todos los embarazos. La gran mayoría de casos son abortados durante la semana 7 y 17 de gestación, siendo pocos los casos en los cuales se alcanza el término. En base a los hallazgos placentarios y ecográficos se ha clasificado la triploidia en dos fenotipos diferentes; tipo I de origen diandrico (paterno) y tipo 2 diagenico (materno). A continuación se describe reporte de caso, de triploidia 69XXX en hospital de nivel III de la ciudad de Cali, Colombia

Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: A case report

Genetic disorders are a major cause in the etiology of cases with intellectual disability; however, analysis by a conventional technique such as cytogenetic karyotyping only allows the detection of chromosomal alterations in approximately 9.5 % of cases. The inclusion of new technologies such as high resolution microarray analysis has allowed the study of alterations in chromosomal segments that are less than 5 Mb in length; this has led to an increase in the diagnosis of these patients of up to 25 %