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Ítem Gastrosquisis en un hospital de tercer nivel de la ciudad de Cali, Colombia durante el período marzo 2004 a febrero 2006(Universidad del Valle, 2008-04-01) Saldarriaga, WilmarLa gastrosquisis es un defecto congénito de la pared abdominal, cuya prevalencia oscila entre 0.6 y 2.7 por 10,000 nacimientos. En los últimos años se ha encontrado un aumento de la prevalencia, asociado con una creciente proporción de madres adolescentes y a nuevos factores etiológicos como exposición a teratógenos específicos y deficiencias nutricionales. Objetivos del estudio: Determinar la prevalencia de los recién nacidos con gastrosquisis nacidos en Hospital Universitario del Valle de Cali, Colombia, en un período de dos años y evaluar la asociación entre factores demográficos de los padres y la ocurrencia de gastrosquisis. Metodología: Se realizó un estudio observacional descriptivo, tomando como universo todos los recién nacidos en el Hospital Universitario del Valle entre marzo de 2004 y febrero de 2006, para determinar la ocurrencia de gastrosquisis. Resultados: Durante el tiempo del estudio, nacieron 16 niños con gastrosquisis de un total de 14,452 nacimientos, lo que representa una prevalencia de 11.1 por 10,000 nacimientos, de 7.8 en 10,000 nacimientos vivos y de 103.5 en nacidos muertos. Se encontró un promedio de edad materna de 18.3. Conclusión: La prevalencia de gastrosquisis en el Hospital Universitario es 11.1 por 10,000 nacimientos, siendo una de las más altas informadas en la literatura. Se encontró en la mayoría de las madres de bebés con gastrosquisis materna en la segunda década y ser el primer embarazo.
Ítem Duplicación cráneo-facial (Diprosopus) con trioftalmos diagnosticado mediante ecografía obstétrica 3D(Editorial Ciencias Medicas, 2016-01-16) Quintero Mejía, Juan CarlosCraniofacial duplication (diprosopus) is the result of the less common form of coupled twins. The use of 3D ultrasound for diagnosis of this disease has been reported. A second case of this disease occurs in Colombia. A clinical case of a son of 28-year-old mother, who underwent prenatal diagnosis with 3D ultrasound of craniofacial duplication and spine.Prenatal karyotype banding G: 46XX. At birth, a female fetus was found with craniofacial duplication, the presence of three eyes, two noses and two mouths, the presence of duplicate backbone up to the cervical region, and spina bifida at the cervical level. The use of 3D ultrasound allows early diagnosis of this disease, allowing a multidisciplinary approach of pregnant women. © 2016, Editorial Ciencias Medicas. All rights reserved.Ítem 18p-syndrome: Presentation of two cases with alobar holoprosencenphaly(Colombia Médica, 2010-10-01) Pachajoa Londoño, Harry Mauricio; Isaza, Carolina; Saldarriaga, WilmarIntroduction: The syndrome by deletion of the short arm of chromosome 18 is an infrequent syndrome, and its phenotypical variability makes it difficult to recognize. Its most frequently observed clinical characteristics include mental retardation, growth retardation, craniofacial malformations, including long ears, microcephaly and short neck; other less frequent associated malformations include holoprosencephaly. Case report: We present two patients with deletion of the short arm of chromosome 18, one presented a de no vo muta tion and the other was produced by a balanced translocation 6p/18p of maternal origin. Both patients presented alobar holoprosencephaly and cebocephaly, low-frequency clinical characteristics in this syndrome. Discussion: alobar holoprosencephaly is a malformation appearing in 10% of patients with deletion of the short arm of chromosome 18; we review the probable physiopathology of holoprosencephaly in this syndrome. © 2010 Universidad del Valle, Facultad de Salud.Ítem A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report.(BioMed Central Ltd., 2014-06-13) Ruiz Botero, FelipeMicrocephalic osteodysplastic primordial dwarfism is a syndrome characterized by the presence of intrauterine growth restriction, post-natal growth deficiency and microcephaly. Microcephalic osteodysplastic primordial dwarfism type II is the most distinctive syndrome in this group of entities. Individuals affected by this disease present at an adult height of less than 100cm, a post-pubertal head circumference of 40cm or less, mild mental retardation, an outgoing personality and bone dysplasia. Case presentation. We report the first case of a five-year-old Colombian boy of mixed race ancestry (mestizo), with clinical features of microcephaly, prominent and narrow nose, arched palate, amelogenesis imperfecta, short stature, tall and narrow pelvis, disproportionate shortening of fore-arms and legs, and mild coxa vara. Analysis of the PCNT gene by sequencing showed the presence of a nucleotide change in exon 10, c. 1468C>T, evidencing a new mutation not reported in the literature for microcephalic osteodysplastic primordial dwarfism. Conclusion: The new mutation identified in this case could be associated with the severity of the phenotypic expression of the disease, resulting in the extreme short stature of the patient. Further studies are required to reach an explanation that can justify such findings, and it is vital to emphasize the importance of detection and follow-up by the epidemiological surveillance groups in birth defects and rare diseases. © 2014 Pachajoa et al.; licensee BioMed Central Ltd.Ítem La acondroplasia entre las poblaciones antiguas de mesoamérica y sudamérica: Evidencia iconográfica y arqueológica(Universidad del Valle, 2012-07-30) Pachajoa Londoño, Harry MauricioIntroducción: La acondroplasia es la forma más frecuente de enanismo. Los individuos presentan acortamiento rizomélico de las extremidades, facies característica con prominencia frontal, hipoplasia media de la cara, genu varo, y la mano tridente. Aunque la etiología de esta enfermedad fue reportada en 1994, evidencia de la existencia esta enfermedad se ha encontrado en poblaciones del antiguo Egipto (2500 aC) y ha sido documentada en poblaciones americanas antiguas. Objetivo: Analizar la presencia de personas con acondroplasia en la sociedad del estado maya de México y Guatemala, durante el período clásico (100- 950 aC ) y postclásico ( 950 a 1519 aC ), del mismo modo, en la sociedad de Tumaco-la Tolita (300 aC - 600 dC) de la costa del Pacífico entre Colombia y Ecuador, y el Estado y la sociedad Moche (100- 600 aC ) de la costa norte del Perú. Métodos: Se realizaron estudios iconográficos y clínico morfológico de algunas de las representaciones artísticas más importantes de las personas de talla baja en estas tres culturas. Conclusiones: Se presenta la hipótesis de que los individuos con talla baja se asociaban de alguna manera con la élite del poder político y religioso.Ítem Embarazo De Gemelo Acárdico Coexistente Con Gemelo Anencefálico, Asociado A Exposición A Varicela En El Primer Trimestre: Reporte de caso y revisión de la literatura(Colombiana de Obstetricia y Ginecología, 2010-10-01) Tabares, KatherineIntroduction: an acardiac twin is a congenital malformation having low prevalence (1 in 35,000) births and is found in about 1 in every 100 monozygotic twins. The association of an acardiac twin with a second twin having greater malformations occurs in around 10% of cases. This article was aimed at reporting a case having very low prevalence and a review of the literature published about the etiology and physiopathology associated with acardiac anomaly, as well as the congenital anomalies associated with it and infection by the chicken pox virus. Materials and methods: the case of monochorionicdiamniotic twin pregnancy involving an acardius mylacephalus twin and a second anencephalic twin is presented, the mother having been exposed to chicken pox during the first trimester of pregnancy. G-band kariot yping showed 46 XY having no structural abnormalities. A search was made of the literature published during the last 10 years in the PubMed, Ovid and HINARI databases. Conclusion: the importance of this report lies in the fact that only one report of the association of acardiac twin coexisting with anencephalic twin was found in the pertinent literature. This is also the first report of the relationship between this combination of greater malformations in twin pregnancy and exposure to chicken pox during the first trimester of pregnancy.Ítem Ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome, report of a case with variable expressivity(2012-10-01) Pachajoa Londoño, Harry MauricioEl síndrome ectrodactilia, displasia ectodérmica y fisura de la- bio/paladar es una entidad poco frecuente, asociada a la mu- tación de genes que codifican la proteína p63. Presentamos un caso de un paciente con ectrodactilia en el pie derecho asociada a labio y paladar fisurados, sin otras alteraciones evidentes, con antecedente familiar de labio con paladar fisurado y muerte en el período perinatal. El manejo de cada caso de este síndrome debe ser específico y multidisciplinario.Ítem Down syndrome passed from mother to child.(2014-07-01) Pachajoa Londoño, Harry MauricioDown syndrome is the leading cause of inherited intellectual disability; it is characterized by mental retardation associated to physical growth delay and certain physical traits or features. It is caused by the presence of a third copy of chromosome 21, being this trisomy the most common chromosomal aneuploidy. Women with Down syndrome are less fertile, and pregnancy in these women is rare, although the information on exact statistics of reproduction in these patients is very limited, and they often have difficulties with miscarriage, premature birth, and difficult labor. We report the case of a preterm newborn with Down syndrome passed from her mother; this pregnancy was a result of sexual assault, which is an event that can and should be prevented in this population.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 First case of Moebius-Poland syndrome in child prenatally exposed to misoprostol.(Elsevier Doyma, 2011-10-01) Pachajoa Londoño, Harry MauricioSe presenta un reporte de síndrome de Moebius y Poland en un neonato expuesto prenatalmente a misoprostol. Paciente hijo de madre de 18 años, quien consultó por dismorfismo facial, encontrándose al examen físico parálisis facial bilateral, cara redondeada, fisuras palpebrales delgadas, labios en arco de cupido, paladar ojival, micrognatia, hipoplasia de pectoral mayor con ausencia de tetilla (atelia),