Impacto biopsicosocial del desplazamiento forzado en una población menor de 12 años del “Asentamiento kilómetro 7”, Barranquilla. Hospital Universidad del Norte, Hospital Niño de Jesús. Barranquilla, 2003

Resumen Objetivo: Caracterizar la población desplazada por violencia y determinar el impacto biopsico- social del desplazamiento forzado en la población infantil. Materiales y métodos: Estudio descriptivo, prospectivo. Datos recogidos casa por casa en 206 familias del “Asentamiento km 7”, Barranquilla. Se aplicó historia clínica a 195 niños y pruebas Machover y CAT-A y –H en 39 niños. Incluye información de jefes de familia, proce- dencia, tiempo y motivo de desplazamiento, cambios familiares, laborales, económicos, sociales, nutricionales, de salud y psicológicos en niños y adultos. Se utilizó el programa Epi-Info 6.04; el análisis estadístico se realizó haciendo uso de la estadística descriptiva, cálculo de medida de tendencia central y de dispersión. Resultados: En cuanto a la jefatura del hogar encontramos que en un 60% de las familias este rol lo ejercía la mujer, y que en el 2.8% de las familias el jefe/a era menor de 18 años de edad. El 6,8% de las cabezas de familia han perdido su cónyuge por asesinato, el 29% son de- sempleados/as y para los/as que trabajan el salario promedio/día es de $5.500. Las condiciones ambientales son precarias dadas por mínimo acceso a los servicios de salud (64$ 5500 pesos. The environmental conditions are precarious, given by a minimum access to health services (64%) and education (76%). The percentage of illiteracy found was of 21% generating a potential effect on biopsychosocial risk variables. 48% of the children are under 5 years; approximately one of five children had some scholastic degree absence, and almost half did not have the awaited educative degree for their age. The rate of acute undernourishment was of 57%, and chronic of 47%. The vaccination cover was of 53%. 85 % of the infant population had undergone some type of physical mistreatment. Key words: Forced displacement, infantile population, social violence

Impacto biopsicosocial del desplazamiento forzado en una población menor de 12 años del “Asentamiento kilómetro 7”, Barranquilla. Hospital Universidad del Norte, Hospital Niño de Jesús. Barranquilla, 2003

Resumen Objetivo: Caracterizar la población desplazada por violencia y determinar el impacto biopsico- social del desplazamiento forzado en la población infantil. Materiales y métodos: Estudio descriptivo, prospectivo. Datos recogidos casa por casa en 206 familias del “Asentamiento km 7”, Barranquilla. Se aplicó historia clínica a 195 niños y pruebas Machover y CAT-A y –H en 39 niños. Incluye información de jefes de familia, proce- dencia, tiempo y motivo de desplazamiento, cambios familiares, laborales, económicos, sociales, nutricionales, de salud y psicológicos en niños y adultos. Se utilizó el programa Epi-Info 6.04; el análisis estadístico se realizó haciendo uso de la estadística descriptiva, cálculo de medida de tendencia central y de dispersión. Resultados: En cuanto a la jefatura del hogar encontramos que en un 60% de las familias este rol lo ejercía la mujer, y que en el 2.8% de las familias el jefe/a era menor de 18 años de edad. El 6,8% de las cabezas de familia han perdido su cónyuge por asesinato, el 29% son de- sempleados/as y para los/as que trabajan el salario promedio/día es de $5.500. Las condiciones ambientales son precarias dadas por mínimo acceso a los servicios de salud (64$ 5500 pesos. The environmental conditions are precarious, given by a minimum access to health services (64%) and education (76%). The percentage of illiteracy found was of 21% generating a potential effect on biopsychosocial risk variables. 48% of the children are under 5 years; approximately one of five children had some scholastic degree absence, and almost half did not have the awaited educative degree for their age. The rate of acute undernourishment was of 57%, and chronic of 47%. The vaccination cover was of 53%. 85 % of the infant population had undergone some type of physical mistreatment. Key words: Forced displacement, infantile population, social violence

Screening program for Waardenburg syndrome in Colombia: Clinical definition and phenotypic variability

Q3Q2Investigación1026-1031Metatropic dysplasia (MD—OMIM: 156530 and 250600) is a rare chondrodysplasia characterized by short limbs with limitation and enlargement of joints and usually severe kyphoscoliosis, first described in 1893. Up until now, 81 other patients have been reported. The phenotypic variability of MD has led to a classification based on radiological anomalies dividing into three different types: a lethal autosomal recessive form, an autosomal recessive non‐lethal form and a non‐lethal autosomal dominant form with less severe radiographs manifestations and a better clinical outcome. Here, we report on clinical and radiological features of 19 novel MD patients. We describe new radiological features, including precocious calcification of hyoid and cricoid cartilage, irregular and squared‐off calcaneal bones and severe hypoplasia of the anterior portion of first cervical vertebrae. In addition, the observation of an overlap between the autosomal recessive non‐lethal form and the non‐lethal autosomal dominant form, the rarity of sibship recurrences and the observation of vertical transmissions of MD in the literature argue in favor of an autosomal dominant mode of inheritance for all MD types. This hypothesis is reinforced by the use of the statistical single ascertainment method that rejects the hypothesis of an autosomal recessive mode of inheritance responsible for MD. Therefore, we propose that recurrence in sibs is due to gonadal mosaicism. © 2008 Wiley‐Liss, Inc

The importance of fundus eye testing in rubella-induced deafness

Q4Q21536-1540Objective: The purpose of this study was to establish a new approach to improve detection of deafness due to rubella. Methods: Colombian institutes for the deaf were visited by a medical team to perform in all enrolled individuals an ophthalmological examination with emphasis in fundus eye by a retina specialist. In cases where ocular alterations compatible with CRS were found, a medical interview by a clinical geneticist analyzing pre-and postnatal history and a thorough medical examination was done. Results: A total of 1383 deaf institutionalized individuals were evaluated in 9 Colombian cities in the period of 2005 to 2006, finding a total of 463 positive cases for salt-and-pepper retinopathy (33.5%), in which rubella could be the etiology of deafness. Medellin, Cartagena, Bucaramanga and Barranquilla were the cities with the highest percentage of Congenital rubella, corresponding to 22.8% of analyzed population. The analysis performed on cases in which reliable prenatal history was obtained in a second appointment (n = 88) showed association between positive viral symptoms during pregnancy and salt-and-pepper retinopathy in 62.5% of cases, while both (retinopathy and viral symptoms) were absent in 29.5% of cases; showing a correlation in 92% of cases. Conclusions: The frequency of deafness by rubella obtained by this study is significantly high compared with previous Colombian studies and with international reports. It was possible to correlate the antecedent of symptoms during pregnancy with the presence of salt-and-pepper retinopathy in this deaf population when reliable prenatal history was available, therefore eye testing with emphasis in fundus examination is a good indicator of rubella induced deafness. We propose a new approach in the search of deafness causes, based on a thorough ophthalmologic examination in all deaf people

Molecular studies in the GJB2 gene (Cx26) among a deaf population from Bogotá, Colombia: Results of a screening program

Q4Q297-101Objective: We conducted a pilot screening program to define the prevalence of non-syndromic deafness and establish the frequency of mutations in the GJB2 gene (Cx26) in a population of children with congenital deafness in Bogotá, Colombia. Method: From a cohort of 731 children in 8 institutions for the deaf, we identified 322 (44%) with presumed non-syndromic deafness. These were invited to a more detailed evaluation, but 46 chose not to participate. The remaining 276 individuals received a complete ophthalmological evaluation that was normal in 205 (74.3%) and showed salt and pepper retinopathy in 55 (19.9%) and other ocular abnormalities in 16 (5.8%). A comprehensive medical history, and a detailed physical examination were performed in the 205 children with normal ocular exam. Of these, 93 were found to have acquired deafness and/or associated anomalies and 112 (15.3% of the initial 731 children), non-syndromic deafness. The GJB2 gene was sequenced in these 112 individuals. Results: Based on family history, 59.8% (67/112) of these cases had autosomal recessive non-syndromic sensorineural hearing loss and the remaining 40.2% (45/ 112) were sporadic, without apparent known cause. We identified three mutations in the GJB2 gene: 35delG, S199F, and 167delT, all of which have been previously reported in the literature, the variant M34T, and the polymorphism V27I. S199F was the most frequent mutation (17.9%), followed by 35delG (17.0%) and 167delT (0.4%). The mutations in the GJB2 gene were present in 50.7% of the autosomal recessive group and in 33.3% of the sporadic cases