Search Results - "Vigone, Cristina"
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Unusual causes of hyperthyrotropinemia and differential diagnosis of primary hypothyroidism: a revised diagnostic flowchart
Published in European thyroid journal (01-08-2023)“…The clinical consequences of primary hypothyroidism include cardiovascular morbidity, increased mortality, and poor quality of life; therefore guidelines…”
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Graves Disease in Children: Thyroid-Stimulating Hormone Receptor Antibodies as Remission Markers
Published in The Journal of pediatrics (01-05-2014)“…Objective To evaluate clinical and biochemical features of 115 children (98 female, mean age 11.3 ± 3.5 years) with Graves disease to identify possible…”
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3
Editorial: Thyroid nodules and tumors in childhood
Published in Frontiers in endocrinology (Lausanne) (19-10-2023)Get full text
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4
Neonatal Screening for Congenital Hypothyroidism: What Can We Learn From Discordant Twins?
Published in The journal of clinical endocrinology and metabolism (01-12-2019)“…Newborn screening program for congenital hypothyroidism (CH) adopting rescreening in at-risk neonates. To estimate the concordance rate for CH in twin pairs…”
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5
JAG1 Loss-Of-Function Variations as a Novel Predisposing Event in the Pathogenesis of Congenital Thyroid Defects
Published in The journal of clinical endocrinology and metabolism (01-03-2016)“…Context: The pathogenesis of congenital hypothyroidism (CH) is still largely unexplained. We previously reported that perturbations of the Notch pathway and…”
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Biallelic Inactivation of the Dual Oxidase Maturation Factor 2 (DUOXA2) Gene as a Novel Cause of Congenital Hypothyroidism
Published in The journal of clinical endocrinology and metabolism (01-02-2008)“…Context: Dual oxidase 2 (DUOX2) is the catalytic core of the H2O2 generator crucial for the iodination of thyroglobulin in thyroid hormone synthesis. DUOX2…”
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Case Report - Multinodular goiter in a patient with Congenital Hypothyroidism and Bannayan-Riley-Ruvalcaba syndrome: the possible synergic role of TPO and PTEN mutation
Published in Frontiers in endocrinology (Lausanne) (08-06-2023)“…We report the case of a paediatric female patient affected by Bannayan-Riley-Ruvalcaba syndrome (BRRS) and congenital hypothyroidism (CH) with homozygous…”
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Effect of initial levothyroxine dose on neurodevelopmental and growth outcomes in children with congenital hypothyroidism
Published in Frontiers in endocrinology (Lausanne) (05-09-2022)“…Objectives We designed a multicentre open prospective randomized trial to evaluate the risk-benefit profile of two different initial treatment schemes with…”
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Perinatal asphyxia and hypothermic treatment from the endocrine perspective
Published in Frontiers in endocrinology (Lausanne) (20-10-2023)“…Introduction Perinatal asphyxia is one of the three most important causes of neonatal mortality and morbidity. Therapeutic hypothermia represents the standard…”
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Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS)
Published in Endocrine (01-12-2021)“…Purpose To report the incidence of 4–12% of differentiated thyroid cancer (DTC) and up to 50% of benign thyroid nodular disease and to describe nodular thyroid…”
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Evolution of Thyroid Function in Preterm Infants Detected by Screening for Congenital Hypothyroidism
Published in The Journal of pediatrics (01-06-2014)“…Objective To determine the evolution of congenital hypothyroidism in preterms and the clinical features of permanent forms. Study design We retrospectively…”
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Germline Mutations of TSH Receptor Gene as Cause of Nonautoimmune Subclinical Hypothyroidism
Published in The journal of clinical endocrinology and metabolism (01-06-2002)“…Germline loss-of-function mutations of TSH receptor (TSHR) gene have been described in families with partial or complete TSH resistance. Large TSH elevations…”
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13
Serum Thyrotropin Concentration in Children with Isolated Thyroid Nodules
Published in The Journal of pediatrics (01-11-2013)“…Objective To investigate the correlation between serum thyroid-stimulating hormone (TSH) concentration and nodule nature in pediatric patients with thyroid…”
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Thyroid scintigraphy and perchlorate test after recombinant human TSH: a new tool for the differential diagnosis of congenital hypothyroidism during infancy
Published in European journal of nuclear medicine and molecular imaging (01-09-2007)“…Prompt initiation of L-thyroxine therapy in neonates with congenital hypothyroidism (CH) often prevents the performance of functional studies. Aetiological…”
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Nutrizione iodica nel neonato prematuro
Published in L'Endocrinologo (2023)Get full text
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Il percorso diagnostico terapeutico del paziente con ipotiroidismo congenito: dalla migliore pratica clinica all’organizzazione territoriale delle strutture dedicate
Published in L'Endocrinologo (2022)“…Sommario In Italia il processo di diagnosi e cura del paziente in età neonatale e pediatrica con ipotiroidismo congenito (IC) viene favorito dalla…”
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Diagnostic features of thyroid nodules in pediatrics
Published in Archives of pediatrics & adolescent medicine (01-08-2010)“…To investigate a cohort of pediatric patients with thyroid nodules, defining histotype frequency and differences between subjects with hyperthyroidism and…”
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COVID‐19 infection in a paucisymptomatic infant: Raising the index of suspicion in epidemic settings
Published in Pediatric pulmonology (01-06-2020)“…Few children have been reported to have been affected by novel coronavirus disease 2019 (COVID‐19); it is unclear whether children are less likely to be…”
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Congenital Hypothyroidism With Eutopic Thyroid Gland: Analysis of Clinical and Biochemical Features at Diagnosis and After Re-Evaluation
Published in The journal of clinical endocrinology and metabolism (01-04-2013)“…Context: In recent years changes in screening strategies for congenital hypothyroidism (CH) led to an increased detection of mild forms of CH, associated with…”
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A frequent oligogenic involvement in congenital hypothyroidism
Published in Human molecular genetics (01-07-2017)“…Congenital hypothyroidism (CH), the most frequent form of preventable mental retardation, is predicted to have a relevant genetic origin. However, CH is…”
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