Journal of Nepal Medical Association, 2022 Introduction: Congenital hypothyroidism is the most preventable and treatable cause of mental retardation in newborns and infants. Screening for congenital hypothyroidism in newborns and infants is not a routine practice in our part of the world.
Bijaya Mishra +7 more
doaj +1 more source
Journal of Clinical Endocrinology and Metabolism, 2020 PURPOSE Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder, however, its molecular etiology remains poorly understood. METHODS We performed genetic analysis of 24 causative genes using next-generation sequencing in 167 CH ...
Takeshi Yamaguchi +6 more
semanticscholar +1 more source
Auditory cortex and beyond: Deficits in congenital amusia [PDF]
Hearing Research, 2023, 437, pp.108855, 2023 Congenital amusia is a neuro-developmental disorder of music perception and production, with the observed deficits contrasting with the sophisticated music processing reported for the general population. Musical deficits within amusia have been hypothesized to arise from altered pitch processing, with impairments in pitch discrimination and, notably ...
arxiv +1 more source
Information Registry System on Congenital Hypothyroidism: A Systematic Review
Journal of Pediatrics Review, 2021 Background: Congenital hypothyroidism is the most common congenital disorder of the endocrine system, leading to preventable mental retardation. Objectives: We aimed to evaluate the current status of congenital hypothyroidism information registry ...
Morteza Ghasempour +4 more
doaj +1 more source
Trends in Scottish newborn screening programme for congenital hypothyroidism 1980-2014: strategies for reducing age at notification after initial and repeat sampling [PDF]
, 2017 Objectives: To determine ages at first capillary sampling and notification and age at notification after second sampling in Scottish newborns referred with elevated thyroid-stimulating hormone (TSH).
Donaldson, Malcolm +6 more
core +1 more source
The Pathogenic TSH β-Subunit Variant C105Vfs114X Causes a Modified Signaling Profile at TSHR [PDF]
, 2019 1) Background: Central congenital hypothyroidism (CCH) is a rare endocrine disorder that can be caused by mutations in the β-subunit of thyrotropin (TSHB).
Biebermann, Heike +6 more
core +1 more source
A new mutation in the promoter region of the PAX8 gene causes true congenital hypothyroidism with thyroid hypoplasia in a girl with Down's syndrome [PDF]
, 2014 <b>Background:</b> Thyroid dysfunction is common in newborn infants with Down's syndrome (DS), but defects causing classic thyroid dysgenesis (TD) with permanent congenital hypothyroidism (CH) have not been described.<p></p> ...
Donaldson, Malcolm +6 more
core +1 more source
Congenital hypothyroidism in pediatric practice
Медицинский совет, 2016 We present observation of two patients with congenital hypothyroidism. Importance of neonatal screening for congenital hypothyroidism is demonstrated.The main principles of diagnostics, therapy and dispensary supervision, role of pediatricians in ...
A. V. Vitebskaya, T. V. Igamberdieva
doaj +1 more source
Binary segmentation of medical images using implicit spline representations and deep learning [PDF]
Computer Aided Geometric Design, Volume 85, 2021, 2021 We propose a novel approach to image segmentation based on combining implicit spline representations with deep convolutional neural networks. This is done by predicting the control points of a bivariate spline function whose zero-set represents the segmentation boundary.
arxiv +1 more source
An Alport syndrome boy with Van Wyk-Grumbach syndrome induced by prolonged untreated congenital hypothyroidism [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2020 Alport syndrome (AS) is a rare genetic disorder that causes progressive nephritis and is more common among males. Studies have reported an association between thyroid antibodies and hypothyroidism in patients with AS, but the relevance of this ...
Su-Jeong Lee +4 more
doaj +1 more source