Results 21 to 30 of about 28,682 (252)

Congenital hypothyroidism in neonates

Indian Journal of Endocrinology and Metabolism, 2014
Congenital hypothyroidism (CH) is one of the most common preventable causes of mental retardation in children and it occurs in approximately 1:2,000-1:4,000 newborns.The aim of this study is to determine the frequency of CH in neonates.This cross-sectional study was conducted in neonatal units of the Department of Pediatrics Unit-I, King Edward Medical
Asif Hanif, Muhammad Ashraf Sultan, Syed Muhammad Javed Iqbal, Aneela Anjum, Muhammad Faheem Afzal   +4 more
openaire   +3 more sources

Discontinuation of thyroid hormone treatment among children in the United States with congenital hypothyroidism: findings from health insurance claims data

BMC Pediatrics, 2010
Background Thyroid hormone treatment in children with congenital hypothyroidism can prevent intellectual disability. Guidelines recommend that children diagnosed with congenital hypothyroidism through newborn screening remain on treatment to at least 3 ...
Grosse Scott D, Ouyang Lijing, Kemper Alex R   +2 more
doaj   +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

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

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote, Sheetal R. Patel, Kristian Havmand Mortensen, Isabel Witvrouwen, Anthonie Duijnhouwer, Nicole M. Brown, Jasmine Grewal, Kathryn C. Chatfield, Aaron T. Dorfman, Siddharth K. Prakash   +9 more
wiley   +1 more source

Visualizing Turner Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) continues to present a diagnostic challenge to healthcare professionals. The diagnostic challenges associated with TS result in delayed treatment and clinical care. Here we provide an update of the physical appearance of girls and women with TS by presenting clinical photographs and detailed clinical descriptions of 25 ...
Kirstine Stochholm, Astrid Bruun Rasmussen, Anne Skakkebæk   +2 more
wiley   +1 more source

Congenital Hypothyroidism Associated with Maternal Hypothyroidism and Iodine Deficiency During Pregnancy [PDF]

Walawalkar International Medical Journal, 2017
Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). The thyroid gland is a butterfly-shaped tissue in the lower neck.
Smita Kargutkar-Ajgaonkar
doaj  

Evolving Real‐World Data and Evidence Use for New Drugs and Regenerative Medical Products Approvals in Japan—An Analysis of the 6‐Year Trend

Clinical Pharmacology &Therapeutics, EarlyView.
Several regulatory initiatives have been made to clarify the acceptability and requirements of real‐world data and real‐world evidence (RWD/E) for the benefit/risk assessment of new medical products in Japan. The objectives of this review were to characterize the use of RWD/E in regulatory applications of new medical products and to describe the ...
Suguru Okami, Kako Shimotsumagari, Yasunari Sadatsuki   +2 more
wiley   +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