Now showing items 1-20 of 20

    • 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 Administration of the IGF-I/IGFBP-3 Complex 

      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 the IGF-I/IGFBP-3 complex on GH and ghrelin nocturnal concentrations in low birth weight children 

      Iñíguez Vila, Germán; Salazar, Teresa; Román, Rossana; Avila, Alejandra; Gunnt, Ronald D.; Cassorla Goluboff, Fernando (BLACKWELL, 2006-11)
      Objective There is limited information regarding the effects of IGF-I and/or IGFBP-3 on circulating ghrelin concentrations. To determine the effects of IGF-I on GH and ghrelin concentrations, we examined the GH and ghrelin ...
    • 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 idiopathic short stature 

      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, Paulina; 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 children and adolescents 

      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 ...
    • Sensibilidad a IGF-I en niños pequeños para la edad gestacional 

      Román, Rossana; Iñíguez Vila, Germán; Salazar C., Teresa; Avila, Alejandra; Barrera P., Alvaro; Fuentes G., Ariel; Mericq, Verónica; Gunn, Ronald D.; Cassorla Goluboff, Fernando (2006)
      Background: The lack of catch up growth (CUG) in small for gestational age (SGA) children may be related to a reduced sensitivity to insulin growth factor 1 (IGF-I). Aim: To assess the sensitivity to IGF-I in small for ...
    • Spontaneous growth of 83 Chilean girls with Turner's syndrome Síndrome de Turner: Crecimiento y descripción clínica en 83 niñas chilenas 

      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 ...
    • The IGF-I Response to Growth Hormone Is Related to Body Mass Index in Short Children with Normal Weight 

      Román, Rossana; Iñíguez Vila, Germán; Lammoglia, Juan Javier; Ávila, Alejandra; Salazar, Teresa; Cassorla Goluboff, Fernando (2009)
      Aim: We investigated whether the insulin-like growth factor (IGF)-I response to growth hormone (GH) is regulated by body mass index (BMI) in short children with normal weight. Methods: We studied 37 prepubertal children ...