Second GHEP-ISFG exercise for DVI: "DNA-led" victims' identification in a simulated air crash.

The Spanish and Portuguese-Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) has organized a second collaborative exercise on a simulated case of Disaster Victim Identification (DVI), with the participation of eighteen laboratories. The exercise focused on the analysis of a simulated plane crash case of medium-size resulting in 66 victims with varying degrees of fragmentation of the bodies (with commingled remains). As an additional difficulty, this second exercise included 21 related victims belonging to 6 families among the 66 missings to be identified. A total number of 228 post-mortem samples were represented with aSTR and mtDNA profiles, with a proportion of partial aSTR profiles simulating charred remains. To perform the exercise, participants were provided with aSTR and mtDNA data of 51 reference pedigrees -some of which deficient-including 128 donors for identification purposes. The exercise consisted firstly in the comparison of the post-mortem genetic profiles in order to re-associate fragmented remains to the same individual and secondly in the identification of the re-associated remains by comparing aSTR and mtDNA profiles with reference pedigrees using pre-established thresholds to report a positive identification. Regarding the results of the post-mortem samples re-associations, only a small number of discrepancies among participants were detected, all of which were from just a few labs. However, in the identification process by kinship analysis with family references, there were more discrepancies in comparison to the correct results. The identification results of single victims yielded fewer problems than the identification of multiple related victims within the same family groups. Several reasons for the discrepant results were detected: a) the identity/non-identity hypotheses were sometimes wrongly expressed in the likelihood ratio calculations, b) some laboratories failed to use all family references to report the DNA match, c) In families with several related victims, some laboratories firstly identified some victims and then unnecessarily used their genetic information to identify the remaining victims within the family, d) some laboratories did not correctly use "prior odds" values for the Bayesian treatment of the episode for both post-mortem/post-mortem re-associations as well as the ante-mortem/post-mortem comparisons to evaluate the probability of identity. For some of the above reasons, certain laboratories failed to identify some victims. This simulated "DNA-led" identification exercise may help forensic genetic laboratories to gain experience and expertize for DVI or MPI in using genetic data and comparing their own results with the ones in this collaborative exercise.

The three-hybrid genetic composition of an Ecuadorian population using AIMs-InDels compared with autosomes, mitochondrial DNA and Y chromosome data.

The history of Ecuador was marked by the arrival of Europeans with Africans, resulting in the mixture of Native Americans with Africans and Europeans. The present study contributes to the knowledge of the Ecuadorian mestizo population by offering information about ancestry and ethnic heterogeneity. Forty-six AIM-InDels (Ancestry Informative Insertion/Deletion Markers) were used to obtain information on 240 Ecuadorian individuals from three regions (Amazonia, the Highlands, and the Coast). As a result, the population involved a significant contribution from Native Americans (values up to 51%), followed by Europeans (values up to 33%) and Africans (values up to 13%). Furthermore, we compared the data obtained with nine previously reported scientific articles on autosomal, mitochondrial DNA and Y chromosomes. The admixture results correspond to Ecuador's historical background and vary slightly between regions.

Risk factors for three-vessel coronary artery disease in patients of Northwest Mexico.

INTRODUCTION: Three-vessel coronary artery disease is an advanced manifestation of atherosclerosis, with high prevalence in Mexico. OBJECTIVE: The aim of this study was to describe coronary risk factors in a group of patients with three-vessel coronary artery disease in Northwest Mexico. METHODS: A cross sectional study was conducted on a population with three-vessel coronary artery disease from May 2015 to February 2016. The disease was defined when ≥70% stenosis was present in each major epicardial coronary artery. Anthropometric and biochemical parameters were measured in each patient. Ankle-Brachial Index was measured with vascular ultrasound, and Syntax score calculation with an on-line application. Statistical analysis for qualitative differences was performed using Pearson X2 test, with p<0.05 being considered as significant. RESULTS: The study included 100 patients, of whom 75 were male (mean age 63±9 years) and 25 female (mean age 69±9 years). The coronary risk factors observed were diabetes (58%), hypertension (86%), smoking (68%), dyslipidaemia (100%), metabolic syndrome (71%), and obesity/overweight (75%). Diabetes and metabolic syndrome prevalence was higher in women (p=0.03), but smoking was higher in men (76%, p=0.003). Ankle-Brachial Index was abnormal in 58% of patients, the mean Syntax score was in 36.9±11.5, and the prevalence of left main coronary heart disease was 36%. CONCLUSIONS: This group of patients with complex coronary lesions has a high prevalence of coronary risk factors, which could represent a worse prognosis.

Risk factors for three-vessel coronary artery disease in patients of Northwest Mexico / Factores de riesgo para la enfermedad arterial coronaria de tres vasos en pacientes del noroeste de México

Abstract Introduction: Three-vessel coronary artery disease is an advanced manifestation of atherosclerosis, with high prevalence in Mexico. Objective: The aim of this study was to describe coronary risk factors in a group of patients with three-vessel coronary artery disease in Northwest Mexico. Methods: A cross sectional study was conducted on a population with three-vessel coronary artery disease from May 2015 to February 2016. The disease was defined when ≥70% stenosis was present in each major epicardial coronary artery. Anthropometric and biochemical parameters were measured in each patient. Ankle-Brachial Index was measured with vascular ultrasound, and Syntax score calculation with an on-line application. Statistical analysis for qualitative differences was performed using Pearson X2 test, with p < 0.05 being considered as significant. Results: The study included 100 patients, of whom 75 were male (mean age 63 ± 9 years) and 25 female (mean age 69 ± 9 years). The coronary risk factors observed were diabetes (58%), hypertension (86%), smoking (68%), dyslipidaemia (100%), metabolic syndrome (71%), and obesity/overweight (75%). Diabetes and metabolic syndrome prevalence was higher in women (p = 0.03), but smoking was higher in men (76%, p = 0.003). Ankle-Brachial Index was abnormal in 58% of patients, the mean Syntax score was in 36.9 ± 11.5, and the prevalence of left main coronary heart disease was 36%. Conclusions: This group of patients with complex coronary lesions has a high prevalence of coronary risk factors, which could represent a worse prognosis.

Resumen Introducción: La enfermedad coronaria de tres vasos (ECTV) es una manifestación avanzada de aterosclerosis, con alta prevalencia en el noroeste de México. Objetivo: Describir los factores de riesgo coronario (FRC) en un grupo de enfermos con ECTV en el noroeste de México. Métodos: De mayo de 2015 a febrero de 2016 se realizó un estudio transversal en una población del noroeste de México diagnosticada con ECTV. Se definió ECTV cuando existía estenosis ≥70% en cada una de las arterias coronarias epicárdicas mayores. Se midieron parámetros antropométricos y bioquímicos en cada paciente. Los parámetros para el índice tobillo-brazo (ITB) se obtuvieron con ultrasonido vascular (Edan SonoTrax 8 Hz) y un cálculo de puntaje Syntax con una aplicación en línea. Análisis estadístico con 32 de Pearson para diferencias cualitativas Se consideró significativo cuando p ≤ 0.05. Resultados: Se estudiaron 25 mujeres (edad 69 ± 9 años) y 75 varones (edad 63 ± 9 años). Los FRC observados fueron diabetes (58%), hipertensión (86%), antecedente de tabaquismo (68%), dislipidemia (100%), síndrome metabólico (71%) y sobrepeso/obesidad (75%). En las mujeres la prevalencia de diabetes y síndrome metabólico fue mayor que en los varones (p = 0.03), pero el tabaquismo fue más prevalente en los varones (76%, p = 0.003). El ITB se encontró anormal en el 58% de los pacientes, el puntaje Syntax promedio fue de 36.9 ± 11.5 y la prevalencia de la enfermedad del tronco de la arteria coronaria izquierda fue del 36%. Conclusión: En este grupo de estudio con lesiones coronarias complejas existe alta prevalencia de FRC que se refleja en y posiblemente un peor pronóstico.

[Percutaneous transluminal septal myocardial ablation in patients with obstructive septal hypertrophic myocardiopathy. Acute results and 3-year follow-up]. / Ablación miocárdica septal transluminal percutánea en pacientes con miocardiopatía hipertrófica septal obstructiva. Resultados agudos y seguimiento a 3 años.

OBJECTIVE: To report the acute and Long term results of percutaneous transluminal septal myocardial ablation (PTSMA), for the treatment of hypertrophic obstructive cardiomyopathy (HOCM). PTSMA has been considered as an alternative to surgical treatment in patients with HOCM and drug-refractory symptoms or unresponsive to the implantation of a pacemaker. Acute response is generally satisfactory, but long term results have not been sufficiently described. METHODS: We did PTSMA in eight patients, with functional class III-IV of NYHA, and with a transaortic gradient at rest > or = 40 mmHg. ALcohol was administered to seven of them, and small absorbant gelatin sponge particles in the other. Acute and long term clinical and echocardiographical follow-up was done. RESULTS: During the procedure the left ventricular outflow tract (LVOT) gradient at rest was reduced significantly and the systolic anterior motion of the mitral valve (SAM) also. Five remained on functional class I, and two in class II. One patient died one year later of sepsis unrelated to the cardiopathy. CONCLUSIONS: PTSMA is an excellent non surgical option to reduce the LOVT gradient and the consequent symptoms in this patients. Long term follow-up shows they remain in a good functional class and their evolution is free of cardiovascular complications.

Ablación miocárdica septal transluminal percutánea en pacientes con miocardiopatía hipertrófica septal obstructiva: resultados agudos y seguimiento a 3 años / Percutaneous transluminal septal myocardial ablation in patients with obstructive septal hypertrophic myocardiopathy: acute results and 3-year follow-up

OBJECTIVE: To report the acute and Long term results of percutaneous transluminal septal myocardial ablation (PTSMA), for the treatment of hypertrophic obstructive cardiomyopathy (HOCM). PTSMA has been considered as an alternative to surgical treatment in patients with HOCM and drug-refractory symptoms or unresponsive to the implantation of a pacemaker. Acute response is generally satisfactory, but long term results have not been sufficiently described. METHODS: We did PTSMA in eight patients, with functional class III-IV of NYHA, and with a transaortic gradient at rest > or = 40 mmHg. ALcohol was administered to seven of them, and small absorbant gelatin sponge particles in the other. Acute and long term clinical and echocardiographical follow-up was done. RESULTS: During the procedure the left ventricular outflow tract (LVOT) gradient at rest was reduced significantly and the systolic anterior motion of the mitral valve (SAM) also. Five remained on functional class I, and two in class II. One patient died one year later of sepsis unrelated to the cardiopathy. CONCLUSIONS: PTSMA is an excellent non surgical option to reduce the LOVT gradient and the consequent symptoms in this patients. Long term follow-up shows they remain in a good functional class and their evolution is free of cardiovascular complications.

Percutaneous septal ablation with absorbable gelatin sponge in hypertrophic obstructive cardiomyopathy.

The treatment of the hypertrophic obstructive cardiomyopathy (HOCM) by percutaneous transluminal septal myocardial ablation (PTSMA) with ethanol injection has greatly improved in the last years. This report describes the case of a patient with symptomatic drug-refractory HOCM who underwent an unsuccessful attempt to thrombose the septal artery by PTSMA with alcohol. It has therefore been decided to use small absorbant gelatin sponge (AGS) particles, obtaining immediate thrombotic occlusion of the artery and excellent hemodynamic results with immediate and permanent disappearance of the gradient. The patient progressed satisfactorily and displayed lower than average creatine kinase levels in comparison to the rest of our PTMSA patients. After 2 years of follow-up he still remains asymptomatic and without any gradient. These results suggest that PTSMA with AGS could be a valuable alternative treatment of HOCM.

Comportamiento de la infección meníngea, Hospital Infantil Consejo de Medellín, 1994 - 1998 / Meningeal infection behaviour, Infantile Hospital Concejo de Medellín, 1994 - 1998

La incidencia de meningitis ha aumentado en varios países del mundo. En las últimas décadas se han registrado epidemias especialmente por meningococo en Egipto, Finlandia, Brasil, Chile y cuba. En Colombia, en los últimos años se han encontrado la mayoría de los casos en Antioquia, siendo de los de mayor incidencia las meningitis por meningococo. En Medellín, en su área Metropolitana su mayor incidencia se ha venido presentando en la zona nororiental. En el transcurso de los 24 años de funcionamiento del Hospital Infantil Consejo de Medellín (H.I.C.M.), se ha venido encontrando una alta incidencia en la presentación de la infección meníngea, la cual ha ido aumentando progresivamente.