Results 81 to 90 of about 615,625 (251)

IKAROS Associated Immunodeficiency and Thrombotic Thrombocytopenic Purpura

Pediatric Blood &Cancer, Volume 73, Issue 2, February 2026.
ABSTRACT Pathogenic variants in IKZF1 (IKAROS) are linked to immunodeficiency, malignancy, and immune dysregulation. We describe a family with a rare IKZF1 variant presenting with humoral immunodeficiency and thrombotic thrombocytopenic purpura (TTP). A non‐consanguineous family was clinically monitored; clinical, immunological, and genetic data (exome
Ilia Spivak, Daniella Magen, Karin Weiss, Tamar Paperna, Suhair Hanna, Amos Etzioni, Adi Miller‐Barmak, Yonatan Butbul Aviel   +7 more
wiley   +1 more source

Investigation of the incidence rate and geographical distribution of congenital hypothyroidism in the newborns in Ilam Province by using geographic information system (GIS) between 2006 and 2016

مجله علمی دانشگاه علوم پزشکی کردستان, 2019
Background and Aim: Congenital hypothyroidism is an endocrine disorder and is one of the main causes of mental retardation in the newborns. Genetic, environmental and geographical factors are associated with the disease.
salman daliri, Khairollah Asadollahi, arezoo karimi, asad ehsanzadeh, Nazanin Rezaei   +4 more
doaj  

Unbalanced long-chain fatty acid beta-oxidation in newborns with cystic fibrosis and congenital hypothyroidism

Molecular Genetics and Metabolism Reports
Background: Immediately after birth, adaptation to the extrauterine environment includes an upregulation of fatty acid catabolism. Cystic fibrosis and untreated hypothyroidism exert a life-long impact on fatty acid metabolism, but their influence during ...
Catherina T. Pinnaro, Kelli K. Ryckman, Aliye Uc, Andrew W. Norris   +3 more
doaj   +1 more source

Safety and effectiveness of tirzepatide during Ramadan fasting: Real‐world evidence from patients with type 2 diabetes in Bangladesh

Diabetes, Obesity and Metabolism, Volume 28, Issue 2, Page 1508-1516, February 2026.
Abstract Aims Ramadan fasting poses challenges for patients with type 2 diabetes mellitus (T2DM) due to increased risks of hypoglycemia and metabolic fluctuations. Tirzepatide, a dual GIP/GLP‐1 receptor agonist, has shown marked efficacy in glycemic control and weight reduction.
Muhammad Hafizur Rahman, Shahjada Selim, Faria Afsana, Md. Azizul Hoque, M. Saifuddin, Md. Shah Alam, Mirza Sharifuzzaman, Mohmmad Abdul Hannan, Md. Nazmul Hasan, A. B. M. Kamrul‐Hasan, Marufa Mustari, Afsar Ahammed   +11 more
wiley   +1 more source

Lissencephaly with Congenital Hypothyroidism: A Case Report

, 2022
Shambhu Kumar Sahani, Anil Pathak, Bishal Nepali, Nilshan Rai   +3 more
openalex   +2 more sources

The Creation of a Weight of Evidence Scoring Database for Risk Factors for Adverse Impacts to Birth Outcomes Using Expert Elicitation

Birth Defects Research, Volume 118, Issue 1, January 2026.
ABSTRACT Background Adverse birth outcomes are important public health measures and account for a substantial public health burden. There is considerable diversity of these health endpoints, as well as in the many factors suspected or recognized to increase their risk.
Paul J. Villeneuve, Ann Aschengrau, Michelle L. Bell, Yang Cao, Mark Elwood, Guy Eslick, Shelley Harris, Leeka Kheifets, Babak Khoshnood, Robert Norman, Nelson Pace, Johan Reutfors, Jeremy M. Schraw, Jose R. Suarez‐Lopez, Gunnar Toft, R. Douglas Wilson, Christopher R. Kirman, Tyler Carneal, Sean M. Hays   +18 more
wiley   +1 more source

Prevalence of Congenital Hypothyroidism and Some Related Factors in Newborn Infants in Southern Kerman from April to March 2009

مجله اپیدمیولوژی ایران, 2019
Background and Objectives: Congenital hypothyroidism is one of the reasons for mental retardation and premature death of infants. Since identification of the determinants of hypothyroidism plays a significant role in its prevention, this study was ...
F Amiri, H Sharifi, E Ghorbani, FS Mirrashidi, M Mirzaee, N Nasiri   +5 more
doaj  

Developmental Skills of Children with and Without Congenital Hypothyroidism

Iranian South Medical Journal, 2020
Background: Congenital hypothyroidism is one of the most common endocrinology diseases in children. Given the importance of evaluating the normal growth and development and identifying growth and development abnormalities, this study aimed to evaluate ...
Belghes Rovshan, Afagh Hassanzadeh Rad, Satila Dalili, Ali Reza Gholi Famian   +3 more
doaj  

A Novel SCNN1B Mutation in a Neonate With Systemic Pseudohypoaldosteronism Type 1: Case Report

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Early recognition of PHA1B in neonates with persistent hyperkalemia and hyponatremia is important for timely intervention. Genetic testing confirms the diagnosis, guiding long‐term management. This case highlights a novel SCNN1B mutation, expanding the genetic spectrum and emphasizing the need for lifelong monitoring to prevent life ...
Ensiyeh Bahadoran, Fatemeh Saffari, Sahar Moghbelinejad   +2 more
wiley   +1 more source

Neonatal screening: 9% of children with filter paper thyroid‐stimulating hormone levels between 5 and 10 μIU/mL have congenital hypothyroidism

Jornal de Pediatria (Versão em Português), 2017
Objectives: To determine the prevalence of congenital hypothyroidism in children with filter paper TSH levels (f‐TSH) between 5 and 10 μUI/mL in the neonatal screening. Methods: This was a retrospective study including children screened from 2003 to 2010,
Flávia C. Christensen‐Adad, Carolina T. Mendes‐dos‐Santos, Maura M.F. Goto, Letícia E. Sewaybricker, Lília F.R. D'Souza‐Li, Gil Guerra‐Junior, André M. Morcillo, Sofia Helena V. Lemos‐Marini   +7 more
doaj   +1 more source