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Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations
(Mary Ann Liebert, 2008-07)
Background: Thyroglobulin (Tg) is a large glycoprotein that is intimately involved in the biosynthesis of thyroxine and triiodothyronine. At least 38 mutations have been described in the Tg gene that are associated with ...
Etiology of congenital hypothyroidism using thyroglobulin and ultrasound combination
(JAPAN ENDOCRINE SOC, 2010)
Methods currently employed to establish the etiology of congenital hypothyroidism include thyroid ultrasound and scintigraphic exams. Thyroglobulin is a protein almost exclusively secreted by thyroid tissue and indirectly ...
Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection
(Karger, 2017-10)
Background/Aim: Congenital hypothyroidism (CH) is a heterogeneous entity. Neonatal screening programs based on thyrotropin (TSH) determination allow primary CH diagnosis but miss central CH (CCH). CCH causes morbidity, ...
Hipotiroidismo congénito transitorio por defectos bialélicos del gen DUOX2. Dos casos clinicosTransient congenital hypothyroidism due to biallelic defects of DUOX2 gene. Two clinical cases
(Sociedad Argentina de Pediatría, 2017-06)
Congenital hypothyroidism affects 1:2000-3000 newborns detected by neonatal screening programs. Dual oxidases, DUOX1 and 2, generate hydrogen peroxide needed for the thyroid hormone synthesis. Mutations in the DUOX2 gene ...
Reflexiones sobre una pequeña figurilla Olmeca de jade. /A small jade figure from the Olmecan culture
(Instituto Nacional de la Nutrición Salvador Zubirán, 2003)
Improvement in Oral Health and Compliance in a Child with Congenital Hypothyroidism. Case Report
(Facultad de Odontología. Universidad de Costa Rica, 2019)
Parenting styles and coping strategies among patients with early detected and treated congenital hypothyroidism
(Sociedad Argentina de Pediatría, 2018-04)
Congenital hypothyroidism (CH), as any chronic disease, has an impact on the parent-child relationship and on the child’s resources to cope with conflicting situations. Objectives. To describe parenting styles according ...
Defects in protein folding in congenital hypothyroidism
(Elsevier Ireland, 2019-11-18)
Primary congenital hypothyroidism (CH) is the most commonendocrine disease in children and one of the most common preventablecauses of both cognitive and motor deficits. CH is a heterogeneous groupof thyroid disorders in ...
Mutations of the thyroglobulin gene and its relevance to thyroid disorders
(LIPPINCOTT WILLIAMS & WILKINS, 2009)
Purpose of review To perform an update review on thyroglobulin gene mutations associated with congenital hypothyroidism, thyroid cancer, and autoimmunity. Recent findings Forty-two thyroglobulin mutations have been identified ...