Browsing by Author "Martínez Aguayo, Alejandro"

Now showing 1 - 4 of 4
  • No Thumbnail Available
    Item
    Cervical pain and swelling due to an autonomous adenoma of the thyroid in an adolescent girl
    (Elsevier, 2014) Grob Lunecke, Francisca; Campusano Montaño, Claudia; Jaimovich Fernández, Rodrigo José; Martínez Aguayo, Alejandro
  • Thumbnail Image
    Item
    Clusters of Autoimmune Diseases in Children and the Role of PTPN22 C1858T Gene Polymorphism in Pediatric Polyautoimmunity
    (2014) Borzutzky Schachter, Arturo; Seiltgens, Cristián; Iruretagoyena B., Mirentxu; Cristi, Francisca; Ponce, María Jesús ; Melendez, Patricia; Martínez Aguayo, Alejandro; Hodgson Bunster, María Isabel; Talesnik Guendelman, Eduardo; Riera Cassorla, Francisca Paz; Méndez, Cecilia; Harris D., Paul R.; García Bruce, Hernán; Gana Ansaldo, Juan Cristóbal; Godoy, Claudia; Cattani Ortega, Andreína
    Background/Purpose:Autoimmune diseases (AIDs) have familial aggregation and frequently share a common genetic background, but few studies have evaluated autoimmune clusters in children with AIDs and their families. Children with more than one AID (pediatric polyautoimmunity) may have a stronger genetic component than children with a single AID. The objectives of this study were to identify clusters of AIDs in children and their first-degree relatives and to evaluate the association of PTPN22 C1858T gene polymorphism with pediatric polyautoimmunity.Methods:A cross-sectional study was performed in subjects with an AID of pediatric onset (<18 years)recruited at Pediatric Rheumatology, Endocrinology and Gastroenterology Clinics at the Health Network of the Pontificia Universidad Católica de Chile School of Medicine. Clusters of AIDs were identified by K-means cluster analysis. The PTPN22 C1858T gene polymorphism was determined by RT-PCR in subjects with pediatric polyautoimmunity and in subjects with three common AIDs: juvenile idiopathic arthritis (JIA), autoimmune thyroid disease (AITD), and type I diabetes (T1D).Results:191 subjects with pediatric AIDs were included, of which 45 (24%) had polyautoimmunity. Mean age was 12.1 years (range 1–19) and 68% were female. Most frequent AIDs were JIA (36%), AITD (25%), T1D (19%), uveitis (8%), celiac disease (6%), and vitiligo (6%). 59% of subjects with pediatric autoimmunity had first-degree relatives with an AID. Five clusters of AID were identified in families of children with autoimmunity (Table 1). Among the 45 subjects with pediatric polyautoimmunity, four clusters of AIDs were identified (Table 2). Genomic DNA from 128 subjects was evaluated for PTPN22 C1858T gene polymorphism revealing common homozygosity (C/C) in 85.2%, heterozygosity (C/T) in 13.3%, and rare homozygosity (T/T) in 1.6 %, in equilibrium with Hardy Weinberg equation (P = 0.4). 26% of polyautoimmune subjects had the T allele in contrast with 11% of monoautoimmune subjects (P = 0.04). No significant difference was found in the age of onset of autoimmunity between mono and polyautoimmune subjects (P = 0.44) or between subjects with C/C genotype vs. C/T and T/T genotypes (P = 0.81).
  • No Thumbnail Available
    Item
    Large mitochondrial DNA deletion in an infant with addison disease
    (Springer, 2012) Durán Saavedra, Gloria Patricia; Martínez Aguayo, Alejandro; Poggi, Helena; Lagos Lucero, Marcela; Gutiérrez, D.; Harris D., Paul R.
    Background: Mitochondrial diseases are a group of disorders caused by mutations in nuclear DNA or mitochondrial DNA, usually involving multiple organ systems. Primary adrenal insufficiency due to mitochondrial disease is extremely infrequent and has been reported in association with mitochondrial DNA deletion syndromes such as Kearns–Sayre syndrome. Aim: To report a 3-year-old boy with Addison disease, congenital glaucoma, chronic pancreatitis, and mitochondrial myopathy due to large mitochondrial DNA deletion. Method: Molecular analysis of mitochondrial DNA samples obtained from peripheral blood, oral mucosa, and muscle tissue. Results: A novel large mitochondrial DNA deletion of 7,372bp was identified involving almost all genes on the big arch of mtDNA. Conclusions: This case reaffirms the association of adrenal insufficiency and mitochondrial DNA deletions and presents new evidence that glaucoma is another manifestation of mitochondrial diseases. Due to the genetic and clinical heterogeneity of mitochondrial disorders, molecular analysis is crucial to confirm diagnosis and to allow accurate genetic counseling.
  • Thumbnail Image
    Item
    Tiroides lingual como causa de disfagia. Caso clínico
    (2008) Rocha-Ruiz, Ana; Beltrán, Constanza; Harris, Paul R.; Orellana Martínez, Pilar; García B., Cristián; Martínez Aguayo, Alejandro
    We report a 11 year-old boy who presented with difficulty in swallowing without symptoms of hypothyroidism. The physical examination revealed a mass at the base of the tongue. The thyroid hormone profile showed a primary hypothyroidism (a serum TSH of 10.8 IU/mL with normal-low thyroxin of 6.0 μg/dL and low triiodothyronine of 57.8 ng/ dL). Antithyroid antibodies were negative. The fiberoptic endoscopy showed a reddish mass, without evidence of haemorrhage or ulceration, confirmed as a well circumscribed, hypodense mass in the base of the tongue by computed tomography of the oropharynx and neck. Tc-99-pertechnetate scanning showed an abnormal area of uptake at the base of the tongue and no uptake in the normal thyroid location, concordant with an ectopic lingual thyroid gland. Levothyroxine in a suppressive dose was started that resulted in a reduction of the size of the mass and disappearance of dysphagia.