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Ítem Encefalocele frontonasal, reporte de un caso con diagnóstico prenatal(Editorial Ciencias Medicas, 2016-01-01) Medina, María LucíaThe encephalocele is a major birth defect characterized by herniation of neural tissue and meninges through a defect in the skull, due to alterations of neural tube closure occurring in fourth week of pregnancy. Prenatal diagnosis is possible through 2D and 3D ultrasound. We report a case of anterior encephalocele, a rare disease among the defects of neural tube closure, with diagnosis by 3D and 2D ultrasonography, which was confirmed at birth by clinical findings and scan. © 2016, Editorial Ciencias Medicas. All rights reserved.
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 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 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 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 Possible case of sirenomelia in the Tumaco-Tolita pottery pre-Columbian culture, 2000 years before the epidemic focus of sirenomelia in Cali-Colombia.(Wiley, 2011-09-01) Rodríguez, Carlos Armando Rmando[No hay resumen disponible]Ítem Retraso en el diagnóstico de un cuadro grave de enfermedad de Huntington juvenil: caso clínico(Sociedad Argentina de Pediatria, 2014-01-01) Ariza Araujo, Yoseth JesualdoHuntington's disease is a neurodegenerative disease that is clinically manifested as mood and personality changes, loss of cognitive functions and choreiform movements. The pattern of inheritance is autosomic dominant. It is due to the gradual expansion of a cytosine, adenine, guanine trinucleotide in a gene that codifies the protein Huntington. The molecular diagnosis must be performed to confirm the diagnosis. Genetic counseling must be carefully done due to the high suicide risk among these patients. We present the case of a fourteen-year-old male with a severe disease, poor social support and an unclear pattern of inheritance.