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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 PDFEstablishing a Newborn Screening Programme: A Success Story from a Low-Resource Setting.
J Coll Physicians Surg Pak
March 2025
Department of Pathology and Laboratory Medicine, The Aga Khan University, Karachi, Pakistan.
The purpose of this communication was to assess the clinical effectiveness of a newborn screening (NBS) programme for congenital hypothyroidism (CH) in a tertiary care centre. This cross-sectional study was conducted from January 2019 to December 2023. Thyroid-stimulating hormone (TSH) on dried blood spot (DBS) specimens collected after 24 hours of birth with >10 mIU/L was further confirmed by testing serum TSH and FT4, and CH cases were referred to a paediatric endocrinologist for management.
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.
This manuscript reviews the evolution of newborn screening for primary congenital hypothyroidism (CH) and explores future strategies to enhance diagnostic accuracy. Over the past few decades, newborn screening has expanded globally, significantly reducing the incidence of severe forms of the disease. However, challenges persist, especially regarding the overdiagnosis of mild cases of primary CH, which may not require treatment.
View Article and Find Full Text PDFImplementing and validating newborn screening for inborn errors of metabolism in South India: a 2-year observational study at a tertiary care hospital.
BMJ Public Health
December 2024
Department of Medical Genetics, JSS Medical College, Mysore, Karnataka, India.
Introduction: Newborn screening (NBS) is an essential public health initiative for early diagnosis of inborn errors of metabolism (IEM), where timely intervention can reduce morbidity and mortality. While routine in developed countries, NBS is not widely practised in India. This study aimed to implement NBS programme in a tertiary care hospital in South India and validate predetermined cut-off values tailored to the regional population.
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