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Ítem Estandarización y documentación de procesos del centro de investigación en anomalías congénitas y enfermedades raras CIACER(Universidad Icesi, 2019-01-01) Corzo Castañeda, Karol Yulieth; Vidal Delgado, Marhta Liliana; Asesor TesisEl presente proyecto de grado tiene como propósito estandarizar y documentar los procesos de Educación y Apoyo Social e Investigación del Centro de Investigación de Anomalías Congénitas y Enfermedades Raras CIACER de la Universidad Icesi. El CIACER, fundado desde 2012, busca contribuir a la calidad de vida familiar las personas con anomalías congénitas y enfermedades raras de origen genético y sus familias, a través del acceso oportuno y de calidad a los diferentes servicios. En el último año, el centro ha identificado una carencia en la forma como se realizan sus procesos y procedimientos. En el caso de grado PLANIFICACIÓN DE UN SISTEMA DE GESTIÓN DE LA CALIDAD PARA EL CENTRO DE INVESTIGACIÓN EN ANOMALÍAS CONGÉNITAS Y ENFERMEDADES RARAS CIACER Bustos Dorado y Vidal Delgado, 2017 se inició la implementación de un Sistema de Gestión de Calidad, el cual llegó hasta la documentación de sus macro procesos. Por lo tanto, en el presente proyecto se dio continuidad a la estandarización y documentación de los procesos y procedimientos que tiene cada macro proceso y los cuales a la fecha no se encuentran implementadosÍtem From the embryological basis to the clinical prune belly syndrome(Editorial Ciencias Medicas, 2016-04-01) Pachajoa Londoño, Harry MauricioPrune Belly syndrome is a congenital disorder that is due, as currently reported, to genetic basis. It is characterized by the following triad: deficiency of abdominal muscles in varying degrees, bilateral cryptorchidism and urinary tract anomalies. Two variants of the syndrome are identified, a deadly one and another compatible with life. © 2016, Editorial Ciencias Medicas. All rights reserved.Ítem Análisis de la distribución espacial y temporal de los defectos congénitos registrados entre 2004 y 2008 en un hospital de tercer nivel en Cali, Colombia(Universidad del Valle, 2011-01-01) Cuartas, Daniel ElíasObjective: To describe the spatial and temporal distribution of major birth defects and to identify clusters at spatial, temporal and space-temporal levels. Methods: A descriptive study was developed about the space and time distribution of defects registered in Cali between March 2004 and October 2008 using principles of spatial statistics, namely the spatial data exploratory analysis. Results: Higher case density and prevalence was observed among neighborhoods of eastern Cali. Three districts («communes») of the 21 in the city showed a larger probability (50 to 100% larger) of major birth defects. Significant clusters (p<0.05) were proven in spatial, temporal and space-temporal analysis. Conclusions: Birth defects were confirmed clustered in several communes at the poorest areas of the city. Occurrence of defects in this area may be associated, at least in part, to social and environmental inequities. © 2011 Universidad del Valle, Facultad de Salud.Ítem Embriopatía por isotretinoína con microtia-anotia y cardiopatía. Presentación de un caso(Sociedad Argentina Pediatria, 2012-06-12) Pachajoa Londoño, Harry MauricioIsotretinoin is a retinoid that derivates from vitamin A. It is indicated for recalcitrant nodular acne treatment, but it has been classified as teratogenic. A wide spectrum of birth defects including craniofacial, heart and nervous system malformations have been described associated to prenatal exposure to this drug. We report the case of a newborn with a history of prenatal exposure to isotretinoin with craniofacial defects, including facial paralysis, right anotia, left microtia and complex heart disease.Ítem Detección de un caso síndrome de Pallister-Killian diagnosticado por citogenética convencional(Editorial Ciencias Medicas, 2015-07-01) Duque Moncaleano, NathalyPallister-Killian syndrome occurs from a tetrasomy of chromosome 12 short arm in some body cells due to the presence of isochromosome (12p) whereas the rest of cells have normal chromosomal complement. This phenomenon is called chromosomal mosaicism. It is considered to occur sporadically, with very low chance of recurrence and affects both women and men. Pallister-Killian syndrome or tetrasomy 12p mosaicism has wide non-specific phenotype characterized by higher frequency of hypotonia, severe mental retardation, deafness and seizures that may worsen as age increases. This is the report of a child diagnosed with Pallister-Killian syndrome in Colombia, which makes reference to difficulties in diagnosing a chromosomal anomaly, since this syndrome is not suspected and the testing for conventional karyotype may provide negative results.Ítem Síndrome por deleción 18p diagnosticado por array de hibridación genómica comparada. Presentación de un caso con fenotipo leve(Sociedad Argentina de Pediatría, 2016-12-06) Pachajoa Londoño, Harry MauricioDeletion on the short arm of chromosome 18 is an infrequent syndrome and it is characterized by the following features: mental retardation, growth retardation, craniofacial malformations such as large ears, microcephaly, and short neck. The phenotypical spectrum is a wide range of abnormalities including minor congenital abnormalities to holoprosencephaly. We present a case of a 10 year old girl who is found to have a deletion on the short arm of chromosome 18 (18p11.32-p11.21), by conventional cytogenetic analysis and comparative genomic hybridization.Ítem Defectos congénitos en un hospital de tercer nivel en Cali, Colombia(Sociedad Chilena de de Obstetricia y Ginecología, 2015-01-01) Isaza, CarolinaTo determine the overall and individual prevalence of birth defects diagnosed at birth in a referral hospital in Cali, Colombia, in the period 2011-2012 and compare the results with previously reported for the same institution. Methods: Epidemiological surveillance of birth defects was performed at the Hospital Universitario del Valle between July 2011 and June 2012, following ECLAMC methodology. Tables were performed to illustrate the frequency distribution of birth defects. Results: During the 12 months of study there were 5,669 births, of which 109 had at least one birth defect, for a prevalence of 1.92[%]. For specific birth defects, the highest prevalence were recorded for polydactyly (24.69 × 10,000), auricular appendage (15.87 × 10,000), hydrocephalus (15.87× 10,000), hydrocephalus (15.87 × 10,000). By grouping, the highest prevalence was for the following groups: limb defects (79.37× 10,000), central nervous system defects (49.39 × 10,000), vascular disruption defects (40.57 × 10,000). Conclusions: In the surveillance period in the institution it was found a prevalence of birth defects similar to that previously reported in the same institution. By grouping, the highest prevalence were for limb defects, defects of the central nervous system and vascular disruption defects. Birth defects associated with environmental factors, principally neural tube defects and defects by vascular disruption had higher prevalence compared with those reported previously.