Browsing by Author "Beltrán, C."

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    Pai syndrome: Report of seven South American patients
    (2007) Guion-Almeida, M. L.; Mellado, C.; Beltrán, C.; Richieri-Costa, A.
    Frontonasal dysplasia is etiologically heterogeneous and various subsets are known. Pai syndrome is one subset, which is characterized by mild hypertelorism, midline cleft lip, nasal and facial polyps, pericallosal lipoma, ocular anomalies, and normal neuropsychological development. Here, we report seven South American patients and review earlier reported cases. The phenotype is clinically variable and five reported patients were severely affected. The cause of Pai syndrome is unknown to date. Several literature findings have been noted: nondiagnostic and discordant minor signs in a parent of two separate families with an affected child; discordant phenotype in monozygotic twins in one instance; and a de novo reciprocal translocation, 46,X,t(X;16)(q28;q11.2) in one instance. © 2007 Wiley-Liss, Inc.
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    Prevalence of R5 and X4 HIV variants in antiretroviral treatment experienced patients with virologic failure
    (2014) Ferrera, P.; Tello, M.; Montecinos, L.; Tordecilla, R.; Rodríguez, C.; Beltrán, C.; Guzmán, M. A.; Ferrés Garrido, Marcela Viviana; Pérez, Carlos; Afani, A.
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    Severe recurrent epistaxis in children: A case report involving two complex underlying conditions
    (2011) Beltrán, C.; García, R. J.; Tevah Castillo, José Carlos; Fonseca Arrieta, María Ximena; Zúñiga, P.
    Epistaxis is very frequent in pediatrics affecting almost 60% of children. It is generally a benign condition, but occasionally an underlying disease such as a systemic coagulopathy or a local tumor may be present. We report a case of a child with severe recurrent epistaxis, in whom both a mild platelet function disorder (PFD) and an intranasal infantile hemangioma (IH) were diagnosed after several diagnostic efforts. Both conditions acted synergistically in the genesis of epistaxis. PFD involves a group of hereditary defects of primary hemostasis that are frequently under-diagnosed. IH is the most common tumor of childhood and is preferently localized in the head and neck areas causing unilateral epistaxis when located in the nose. We address the place of complementary hematological or local evaluations in children presenting severe recurrent epistaxis.