Results 51 to 60 of about 630,874 (291)

DUOX2/DUOXA2 Mutations Frequently Cause Congenital Hypothyroidism that Evades Detection on Newborn Screening in the United Kingdom

Thyroid, 2019
Background: The etiology, course, and most appropriate management of borderline congenital hypothyroidism (CH) are poorly defined, such that the optimal threshold for diagnosis with bloodspot screening thyrotropin (bsTSH) measurement remains ...
C. Peters, A. Nicholas, E. Schoenmakers, G. Lyons, S. Langham, E. Serra, N. Sebire, M. Muzza, L. Fugazzola, N. Schoenmakers   +9 more
semanticscholar   +1 more source

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen. O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti‐Pierri, Sally Ann Lynch   +12 more
wiley   +1 more source

Congenital hypothyroidism in different cities of the Isfahan province: A descriptive retrospective study

Journal of Education and Health Promotion, 2019
BACKGROUND: Considering the high prevalence rate of congenital hypothyroidism CH in Iran, an epidemiological study in each region would be helpful in understanding the etiology of the disorder and providing preventative strategies in this field.
Zeinab Hemati, Mahin Hashemipour, Silva Hovsepian, Marjan Mansourian, Masoud Zandieh, Mahshid Ahmadian, Marzie Dalvi, Serajoddin Arefnia, Roya Kelishadi   +8 more
doaj   +1 more source

Incidence of Congenital Hypothyroidism Over 37 Years in Ireland

Pediatrics, 2018
In this study, we describe and analyze the significant increase in cases of CHT in the Republic of Ireland over a 37-year period. BACKGROUND AND OBJECTIVES: Congenital hypothyroidism (CHT) is one of the most common preventable causes of learning ...
N. McGrath, C. Hawkes, C. McDonnell, D. Cody, S. O’Connell, P. Mayne, N. Murphy   +6 more
semanticscholar   +1 more source

Correlation between umbilical cord concentration of the growth hormone‐IGF axis and small for gestational age: A single‐center retrospective, observational study

International Journal of Gynecology &Obstetrics, EarlyView.
Synopsis Imbalance in the GH‐IGF‐1 axis may restrict fetal growth and development, thereby increasing the risk of future metabolic diseases. Abstract Objective To ascertain the association between small for gestational age (SGA) and growth hormone (GH)‐insulin‐like growth factor (IGF) system status.
Jing Wen, Yan Zhao, Ruoling Xian, Xin Fan   +3 more
wiley   +1 more source

Frequency of congenital hypothyroidism in new born admitted with neonatal jaundice at tertiary care hospital peshawar

Journal of Rawalpindi Medical College, 2023
Neonatal jaundice is a common disorder worldwide affecting 30-70% of newborn infants. Severe neonatal jaundice and its progression to kernicterus is a leading cause of death and disability among newborns in poorly-resourced countries. OBJECTIVES: To
Abdul Ahad, Romana Bibi, Sijad Ur Rehman, Majid Ali Shah, Matea Ullah, Shahinda   +5 more
doaj   +1 more source

What are the causes of elevated TSH in a newborn? [PDF]

, 2008
Congenital hypothyroidism is a critical cause of elevated thyroid-stimulating hormone (TSH) in newborns; evaluate all neonates with an elevated TSH for congenital hypothyroidism (strength of recommendation [SOR]: A).
Crotteau, Charles A., Kovach, Fran E., Rowland, Kathleen   +2 more
core  

Triage and care for women with symptoms or diagnosis of pregnancy loss between 14 + 0 and 21 + 6 weeks' gestation

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Mid‐trimester pregnancy loss (MTL), defined as a pregnancy loss occurring between 14 + 0 and 21 + 6 weeks of gestation, causes significant physical and emotional distress to women and presents clinical challenges to healthcare professionals. It is acknowledged that in low‐resource settings, this guideline might be applicable to births up to 28 
Caroline E. Fox, Rosinder Kaur, Kugajeevan Vigneswaran, Rachel Small, Jenny Carter, Keelin O'Donoghue, Alexander E. P. Heazell, Anna L. David, Nigel Simpson, Angharad Care, Lisa Starrs, Andrew Shennan, Catalina María Valencia González, Priya Soma‐Pillay, Leah Fitzsimmons, Adam J. Devall, Arri Coomarasamy, Mid‐trimester Pregnancy Loss Guideline Consensus Panel, Owen Arthurs, Ruth Bender‐Atik, Phil Bennett, Kirstien Boelaert, Elizabeth Bonney, Leanna Brace, Naomi Carlisle, Davide Casagrandi, Manju Chandiramani, Carolyn Chiswick, Alexandra Emms, Stella Fielder, James Goadsby, Laura Goodfellow, Jim Gray, Jemma Johns, Emma Kirk, Will Lester, Sophie Mackay, Maria Memtsa, Katie Morris, Sunbal Mukhtar, Naimah Raza, Rita Sarquis, Neil Sebire, Lucy Smith, Lucy Spencer, Amos Tetteh, Natalie Woodhead   +46 more
wiley   +1 more source

Congenital hypothyroidism

Indian Journal of Endocrinology and Metabolism, 2015
Congenital hypothyroidism (CH) is the one of the most common preventable cause of mental retardation. In the majority of patients, CH is caused by an abnormal development of the thyroid gland (thyroid dysgenesis) that is a sporadic disorder and accounts ...
Pankaj Agrawal, Rajeev Philip, Sanjay Saran, Manish Gutch, Mohd Sayed Razi, Puspalata Agroiya, Keshavkumar Gupta   +6 more
doaj   +1 more source

Investigation of Risk Factors of Congenital Hypothyroidism in Children in Southwestern Iran

Global Pediatric Health, 2022
Due to the fact that congenital hypothyroidism is one of the preventable causes of mental retardation, so this study was conducted to determine the risk factors in children with congenital hypothyroidism.
Ashrafalsadat Hakim
doaj   +1 more source