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Genetic and functional analysis of TUBB1 variants in congenital hypothyroidism.
Endokrynol Pol
March 2025
Medical Genetics Department and Prenatal Diagnosis Centre, The Affiliated Hospital of Qingdao University, Qingdao, China.
Background: Congenital hypothyroidism (CH) is the most common neonatal disorder, primarily caused by thyroid dysgenesis (TD). While the genetic cause has been identified in less than 5% of TD cases, there is an urgent need to investigate additional gene mutations that may be responsible. In 2018, TUBB1 was identified as a novel candidate gene associated with TD.
View Article and Find Full Text PDFReview of the Pathophysiology and Clinical Manifestations of 22q11.2 Deletion and Duplication Syndromes.
Clin Rev Allergy Immunol
March 2025
Joe DiMaggio Children's Hospital, Hollywood, FL, USA.
22q11.2 deletion and duplication syndromes are complex genetic syndromes composed of a wide spectrum of clinical manifestations, mostly affecting cardiovascular, endocrine, neurodevelopmental, and immune functioning. 22q11.
View Article and Find Full Text PDFNeonatal screening for congenital hypothyroidism: 28-year experience in the state of Minas Gerais, Brazil.
J Pediatr (Rio J)
March 2025
Universidade Federal de Minas Gerais, Hospital das Clínicas, Serviço de Endocrinologia Pediátrica, Belo Horizonte, Minas Gerais, Brazil; Universidade Federal de Minas Gerais, Faculdade de Medicina, Departamento de Pediatria, Belo Horizonte, Minas Gerais, Brazil.
Objective: The objective of this study was to determine the incidence of congenital hypothyroidism (CH) in Minas Gerais, Brazil, and evaluate the development of the Minas Gerais Neonatal Screening Program (PTN-MG) over the past 30 years.
Method: This was a retrospective longitudinal cohort study since the implementation of neonatal screening for CH, in 1994. Bloodspots on filter paper are collected, between the third and fifth day of life, at primary healthcare units, with a TSH threshold of 10 mIU/L.
Effects of early-life F-53B exposure on thyroid function in juvenile rats: The role of the cAMP signaling pathway.
J Hazard Mater
February 2025
Joint International Research Laboratory of Environment and Health, Ministry of Education, Guangdong Provincial Engineering Technology Research Center of Environmental Pollution and Health Risk Assessment, Department of Occupational and Environmental Health, School of Public Health, Sun Yat-sen University, Guangzhou 510080, China. Electronic address:
Chlorinated polyfluoroalkyl ether sulfonate (F-53B), a substitute for perfluorooctane sulfonate (PFOS), exerts a stronger effect on neonatal thyroid hormone (TH) than PFOS. However, limited data on its thyrotoxicity complicates early-life risk assessment. Here, Sprague-Dawley rats were gavaged with F-53B (0, 8, 80, 800 μg/kg/d) for 63 days, from two weeks pre-pregnancy to two weeks post-weaning.
View Article and Find Full Text PDFPredictive value of technetium-99m sodium pertechnetate thyroid scintigraphy in determining the permanence of congenital hypothyroidism.
J Clin Imaging Sci
January 2025
Nuclear Medicine Unit, Department of Diagnostic and Interventional Radiology, Queen Elizabeth Hospital, Hong Kong, China.
Objectives: We aim to investigate the predictive value of [Tc] pertechnetate thyroid scintigraphy in determining the permanence of congenital hypothyroidism (CH).
Material And Methods: A retrospective analysis of [Tc] pertechnetate thyroid scans performed for evaluation of CH at the Nuclear Medicine Unit of a hospital in Hong Kong between January 1, 2008, and December 31, 2018, was conducted. Scintigraphic findings and parameters at diagnosis, including thyroid stimulating hormone (TSH), free thyroxine (fT4), gender, and gestational age, were reviewed.
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