Results 61 to 70 of about 25,985 (194)

First‐Trimester Bilateral Choanal Atresia as a Marker of a De Novo Pathogenic KMT2D Variant Associated With BCAHH Syndrome

Prenatal Diagnosis, EarlyView.
Patrik Šimják, Jan Král, Dagmar Rašková, Monika Koudová, David Stejskal   +4 more
wiley   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2067-2079, September 2026.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

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  

Reducing Exposure Before Birth: An Interrupted Time Series Study of Prenatal Exposure to Fetotoxic Medications Under Risk Management Plans in Canada

Clinical Pharmacology &Therapeutics, Volume 120, Issue 3, Page 721-730, September 2026.
Canada's 2009 risk management plan (RMP) framework has not been evaluated for prenatal exposure impact. Conversely, widely used drugs such as nonsteroidal anti‐inflammatory drugs (NSAIDs) lack RMPs. We assessed first‐trimester exposure to RMP‐regulated medications following regulatory interventions and to NSAIDs following safety publications.
Nahiyan Saiyara Khan, Odile Sheehy, Lisiane Freitas Leal, Vanina Tchuente, Anick Bérard   +4 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

Anti‐Müllerian Hormone and Metabolic–Hormonal Profiles in Women With and Without Polycystic Ovary Syndrome: A Population‐Based Study

Endocrinology, Diabetes &Metabolism, Volume 9, Issue 5, September 2026.
In this population‐based study of 883 women, AMH declined less with age in women with PCOS than in healthy women. Higher AMH may protect older healthy women from T2DM but indicates elevated metabolic risk in younger women with PCOS, supporting its role as a life‐course biomarker for metabolic risk stratification.
Fahimeh Ramezani Tehrani, Maryam Mousavi, Marzieh Saei Ghare Naz, Maryam Farahmand, Masoumeh Jorjani, Fatemeh Mahboobifard   +5 more
wiley   +1 more source

Specific and Non-Specific Thalamocortical Afferents to the Whisker–Related Sensory Cortical Region in Rats with Congenital Hypothyroidism [PDF]

Journal of Kerman University of Medical Sciences, 2015
Background & Aims: Thyroid hormones are of great importance in the development of the central nervous system. Congenital hypothyroidism may affect the reorganization of specific and non-specific thalamocortical afferents to whisker–related sensory (wS1 ...
Mohammad-Reza Afarinesh, Gila Behzadi
doaj  

The congenital hypothyroidism: the incidence and clinical features of different forms

Mìžnarodnij Endokrinologìčnij Žurnal, 2017
Background. Congenital hypothyroidism (CH) as the most common hereditary thyroid pathology is a serious social, economic and psychological burden for a family, where the sick child was born, as well as for the society.
T.V. Sorokman
doaj   +1 more source

Long‐Acting Growth Hormone Versus Daily Growth Hormone for Growth Hormone Deficiency Patients: A Network Meta‐Analysis of Clinical Trials

Endocrinology, Diabetes &Metabolism, Volume 9, Issue 5, September 2026.
This network meta‐analysis of 18 randomized controlled trials demonstrates that once‐weekly long‐acting growth hormone formulations offer comparable efficacy and safety to daily somatropin for paediatric growth hormone deficiency. While discontinuation rates remain similar, agent selection should consider specific local tolerability profiles, notably ...
Amir Abadi, Usra Ghanem, Hamid Ghanem, Ahmed Jalal Sawafta, Ayah Abulehia, Mohammed Ataya, Rahma Nairat, Alhammam Mohammad Sammour, Hazem Ayesh   +8 more
wiley   +1 more source

Zebrafish duox mutations provide a model for human congenital hypothyroidism

Biology Open, 2019
Thyroid dyshormonogenesis is a leading cause of congenital hypothyroidism, a highly prevalent but treatable condition. Thyroid hormone (TH) synthesis is dependent on the formation of reactive oxygen species (ROS).
Kunal Chopra, Shoko Ishibashi, Enrique Amaya   +2 more
doaj   +1 more source