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Ítem Mucopolisacaridosis tipo VI (síndrome Maroteaux-Lamy) en la cultura precolombina de Colombia(Universidad del Valle, 2014-04-01) Rodriguez, Carlos ArmandoMucopolysaccharidosis type VI or Maroteaux Lamy syndrome is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B, the clinical features include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism, with intelligence usually normal. We present evidence of the possible existence of Maroteaux Lamy syndrome in pre-Columbian pottery 2000 years ago, in the Colombo-Ecuadorian Pacific coast of the Tumaco-Tolita culture.
Ítem Sirenomelia and cyclopia in the same patient after a cluster of cyclopia and sirenomelia in Cali (South America)(2012-05-24) Isaza, CarolinaRecently the Journal published a sireno melia and a cyclopia cluster in Cali, a city located on the Colombian pacific coast. The clusters were colleted and analyzed by the ECLAMC (Latin-American Collaborative Study of Congenital Malformations) [Castilla et al., 2008]. The sirenomelia cluster occurred in a period of 55 days from September 12, 2004 to February 2, 2005; in thes time 1,064 babies were born and, of these, four cases presented with this rare disorder. The cluster if cyclopedia occurred in a period of 170 days between December 4,2004 and May 23, 2005; in this period 3,594 births occurred [Castilla et al., 2008; Orioli et al., 2009]. We present a case of sirenomelia with cyclopia in Cali. This case was born in June 2008 and was after the cluster.Ítem Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia(Wiley-Blackwel, 2016-05-01) Pachajoa Londoño, Harry MauricioFocal dermal hypoplasia is a rare genetic disease characterized 8-year-old female who sought genetic counseling for multiple malformations, aggressive behavior and intellectual disability. Gene analysis confirmed focal dermal hypoplasia.Ítem Defectos congénitos y síndromes genéticos en el arte de las sociedades Tumaco-Tolita y Moche - Primera Edición(Universidad Icesi, 2017-03-01) Rodríguez, Carlos Armando; Universidad del ValleTumaco-Tolita y Moche sobresalen entre el conjunto de culturas prehispánicas suramericanas, que descollaron por su impresionante arte cerámico figurativo, plasmado especialmente en su cerámica. Son expresiones estéticas cargadas de un alto realismo, y de una gran simbología. Su estudio, con el concurso de diversas disciplinas como la arqueología, la historia, la semiótica, y la iconografía, apenas comienza. Ante la importancia de estos estudios y para profundizar en su conocimiento, se dieron los primeros pasos en el análisis de los procesos de salud y enfermedad, cuya tarea requirió la integración de esfuerzos complementarios de la arqueología, el arte antiguo y la medicina. Propiamente, la disciplina híbrida conocida con el nombre de Arqueomedicina, sólo cuenta con dos décadas de existencia.Ítem Clinical and molecular characterisation of two siblings with fibrodysplasia ossificans progressiva, from the Colombian Pacific coast (South America)(BMJ Publishing Group, 2015-06-08) Pachajoa Londoño, Harry MauricioFibrodysplasia ossificans progressiva (FOP, MIM 135 100) is an uncommon genetic disease with a dominant autosomal germline transmission pattern; however, most cases are products of spontaneous individual mutations. It is a disabling condition that affects connective tissue, and it is distinguished by progressive heterotopic ossifications and congenital malformations of the great toes. The case of 2 brothers with progressive osseous deformation, along with ankylosis of the jaw, scoliosis and mental retardation, is presented. Blood samples were taken from each patient identifying in both of them a heterozygote mutation in exon 6 of the gene ACVR1 (c.617G>A p.Arg206His), which diagnoses the 'classic' form of FOP. The current medical treatment of this disease is early detection to avoid trauma and aggravating factors, prophylactic measures against infections and respiratory decline, symptomatic relief and physical therapy. There is currently no cure for the disease. © 2015 BMJ Publishing Group. All rights reserved.