Browsing by Author "33cd2472-44d7-4b97-89ee-95a1626789c8"

Now showing items 1-17 of 17

    • Activating GNAS1 gene mutations in patients with premature thelarche 
      Román, Rossana; Johnson, María Cecilia; Codner Dujovne, Ethel; Boric Scarpa, María Angélica; Ávila, Alejandra; Cassorla Goluboff, Fernando (2004)
      Objective To identify GNAS1 gene mutations in girls with exaggerated and/or chronic fluctuating thelarche for at least 1-year duration with no other signs of precocious puberty, skeletal dysplasia, or typical skin lesions ...
    • Changes in Nocturnal Leptin and Insulin Concentrations in Prepubertal Low Birth Weight Children after ... 
      Iñíguez Vila, Germán; Román, Rossana; Avila, Alejandra; Gunn, Ronald D.; Cassorla Goluboff, Fernando (2009)
      Background: There is limited information regarding the effects of IGF-I and/or IGFBP-3 on circulating leptin concentrations. Aim: To determine the effects of IGF-I on leptin and insulin concentrations, we examined leptin ...
    • Congenital hypopituitarism. Report of 23 cases Hipopituitarismo congénito: Experiencia en 23 casos 
      Lammoglia, Juan Javier; Eyzaguirre, Francisca; Unanue, Nancy; Román, Rossana; Codner Dujovne, Ethel; Cassorla Goluboff, Fernando; Mericq, Verónica (2008)
      Background: Congenital hypopituitarism is an uncommon cause of hypophyseal insufficiency. It is less common than growth hormone deficiency, which has an incidence of 1:4.000 to 1:8.000 live newborns. Early diagnosis of ...
    • Cytoplasmic and nuclear STAT3 in GH-stimulated fibroblasts of children with idiopathic short stature 
      Martínez Pinto, Jonathan; Salazar, Teresa; Ocaranza, Paula; Fuentes, Ariel; Román, Rossana; Cassorla Goluboff, Fernando (2010)
      Background: STAT5, which plays an important role in GH signal transduction, has been studied extensively in children with growth retardation, but there is scarce information regarding STAT3. Aim: We determined total and ...
    • Effects of thyroid hormone on the GH signal transduction pathway 
      Ocaranza Osses, Paula; Lammoglia, Juan Javier; Iñíguez Vila, Germán; Román, Rossana; Cassorla Goluboff, Fernando (Elsevier, 2014)
      Background/aim: The importance of thyroid hormone on growth and development in children iswell recognized. In addition, linear growth is highly dependent on the response of peripheral tissues to growth hormone, a ...
    • Expression of SOCS1, SOCS2, and SOCS3 in growth hormone-stimulated skin fibroblasts from children with ... 
      Ocaranza, Paula; Morales, Fernanda; Román, Rossana; Iñíguez Vila, Germán; Cassorla Goluboff, Fernando (2012)
      Background/aim: Possible etiologies of idiopathic short stature (ISS) include a range of conditions, some of which may be caused by defects in the modulation of the growth hormone (GH)-signaling pathway. The Janus kinase/signal ...
    • Ghrelin plasma levels in patients with idiopathic short stature 
      Iñíguez Vila, Germán; Román, Rossana; Youlton, Ronald; Cassorla Goluboff, Fernando; Mericq, Verónica (2011)
      Background: Novel molecular insights have suggested that ghrelin may be involved in the pathogenesis of some forms of short stature. Recently, growth hormone secretagogue receptor (GHSR) mutations that segregate with short ...
    • Glucokinase mutations in young children with hyperglycemia 
      Codner Dujovne, Ethel; Deng, Liyong; Pérez Bravo, Francisco; Román, Rossana; Lanzano, Patricia; Cassorla Goluboff, Fernando; Chung, Wendy K. (JOHN WILEY & SONS, 2006-10)
      Background The etiology of mild hyperglycemia without ketoacidosis in young children is often unknown. Maturity onset diabetes of youth (MODY) is a form of diabetes mellitus (DM) characterized by fasting hyperglycernia ...
    • Growth hormone signaling in fibroblasts from newborn boys and prepubertal boys 
      Ocaranza Osses, Paula; Morales, Fernanda; Matamala, Álvaro; Gaete, Ximena; Román, Rossana; Lammoglia, Juan Javier; Cassorla Goluboff, Fernando (Elsevier, 2016-04)
      Background/aim: Responsiveness to GH in target cells is mediated by its receptor, which activates the Janus kinase-2 (JAK2) and STAT5 (signal transducers and activators of transcription 5) leading to the expression of IGF-1 ...
    • Hipopituitarismo congénito: Experiencia en 23 casos 
      Lammoglia, Juan Javier; Eyzaguirre, Francisca; Unanue Morales, Nancy; Román, Rossana; Codner Dujovne, Ethel; Cassorla Goluboff, Fernando; Mericq, Verónica (SOC MEDICA SANTIAGO, 2008-08)
      Background: Congenital hypopituitarism is an uncommon cause of hypophyseal insufficiency. It is less common than growth hormone deficiency, which has an incidence of 1:4.000 to 1:8.000 live newborns. Early diagnosis of ...
    • IGF-IR/ERK content and response to IGF-I and insulin in adipocytes from small for gestational age children 
      Iñíguez Vila, Germán; Ormazábal Leiva, Paulina Fernanda; López, Teresa; Maldonado, Diego; Avila, Alejandra; Román, Rossana; Cassorla Goluboff, Fernando (2009)
      Background/Aims: The GH-IGF-I axis plays an important role on pre/postnatal growth in humans, and IGF-I regulates cell proliferation, differentiation, and metabolic homeostasis. The adipose tissue has an important function ...
    • Phosphotyrosine phosphatases in GH-stimulated skin fibroblasts from children with idiopathic short stature 
      Ocaranza, Paula; Gaete, Ximena; Román, Rossana; Morales, Fernanda; Íñíguez, Germán; Cassorla Goluboff, Fernando (De Gruyter, 2013)
      Aim: Some cases of idiopathic short stature (ISS) may be caused by defects in the modulation of the negative feedback regulation of the growth hormone receptor (GHR)/ Janus kinase (JAK)2/signal transducers and activators ...
    • Precocious pubarche: Experience in 173 cases Pubarquia precoz: Experiencia en 173 casos 
      Eyzaguirre, Francisca C.; Bancalari, Rodrigo; Youlton, Ronald; Román, Rossana; Silva, Ricardo; García, Hernán; Mericq, Verónica (2009)
      Background: Precocious pubarche (PP), defined as the development of sexual pubic hair before 8 years of age in females and before 9 years in males, is usually a benign condition but it can also be the first sign of an ...
    • Premature thelarche from phenotype to genotype 
      Codner Dujovne, Ethel; Román, Rossana (2008)
      Premature thelarche is a benign condition, which has been described as a "variant of puberty". Early breast development is especially prevalent during the first year of life, when the gonadal axis is usually active. ...
    • Prevalence of components of the metabolic syndrome according to birthweight among overweight and obese ... 
      Eyzaguirre, Francisca; Bancalari, Rodrigo; Román, Rossana; Silva, Ricardo; Youlton, Ronald; Urquidi, Cinthyia; García, Hernán; Mericq, Verónica (2012)
      Background/objectives: Extremes of birthweight (BW) have been associated with increased rates of metabolic risks. The objective was to study the prevalence of metabolic risks markers among obese and overweight (OW) subjects ...
    • Relationship between insulin sensitivity and IGF-I sensitivity in low birth weight prepubertal children 
      Román, Rossana; Iñíguez Vila, Germán; Salazar, Teresa; Avila, Alejandra; Barrera, Alvaro; Mericq, Verónica; Attie, Kenneth M.; Cassorla Goluboff, Fernando (2008)
      Background: Insulin-like growth factor-I (IGF-I) and insulin are structurally related proteins with similar receptors and signal transduction systems. Aim: We postulate that some low birth weight (LBW) children may have ...
    • Spontaneous growth of 83 Chilean girls with Turner's syndrome Síndrome de Turner: Crecimiento y descripción ... 
      Román, Rossana; Vallejos, María Eliana; Muñoz, Mónica; Schneider, Ruth; Youlton, Ronald; Henriquez, Cecilia; Cassorla Goluboff, Fernando (2002)
      Background: Short stature is the main feature of patients with Turner's syndrome. There is limited information regarding the spontaneous growth of these patients in Chile. Aim: To develop a specific growth chart for Chilean ...