Results 71 to 80 of about 295,712 (230)

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  

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

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2099-2105, September 2026.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 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

Congenital Hypothyroidism and Hyperinsulinaemic Hypoglycaemia - Case Report

Endocrinology Research and Practice, 2006
Congenital hypothyroidism is one of the most common endocrine disorders observed in paediatric endocrinology. Thyroid hormones play an important role in glucose physiology and in determining tissue insulin sensitivity.
Mehmet Emre Atabek, Özgür Pirgon, Ahmet Sert, Khalid Hussain   +3 more
doaj   +2 more sources

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  

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

A 10‐year prevalence of congenital hypothyroidism in Khorramabad (Urban Western Iran)

Molecular Genetics & Genomic Medicine, 2019
Background Congenital hypothyroidism in infants is the cause of mental retardation in children, it can be detected in patient and treated at a relatively cheap rate, preventing patient retard.
Nadereh Taee, Mojgan Faraji Goodarzi, Mohammad Safdari, Amir Bajelan   +3 more
doaj   +1 more source

Evaluating the Performance of Traditional Pharmacoepidemiologic and Machine Learning Models to Predict Pregnancies at Risk of Major Congenital Malformations

Birth Defects Research, Volume 118, Issue 9, September 2026.
ABSTRACT Background With approximately 50% of pregnancies being unplanned, there is an unintended exposure to potential feto‐toxic drugs that may cause major congenital malformations (MCM). This study aims to compare the predictive performance between traditional pharmacoepidemiologic (PE) and machine learning (ML) models. Methods We conducted a cohort
Gabra Nohmie, Marc Lanovaz, Odile Sheehy, Cristina Longo, Robert Platt, Audrey Durand, Christine Damase‐Michel, Anick Bérard   +7 more
wiley   +1 more source

Long‐Term Outcome After Pulsed Field Ablation for Atrial Fibrillation Across an Atrial Septal Defect Closure Device: A 20‐Month Follow‐Up Case Report

Clinical Case Reports, Volume 14, Issue 9, September 2026.
ABSTRACT Balloon‐assisted transseptal puncture across a large atrial septal defect closure device can permit pulsed‐field ablation in selected patients with complex septal anatomy, achieving durable pulmonary vein isolation and sinus rhythm. A borderline residual left‐to‐right shunt developed post‐procedure but decreased on serial imaging without ...
Ahmed Abdelrazik, Ibrahim Antoun, Ivelin Koev, Mahmoud Eldesouky, Marinos Kantzis, G. Andre Ng   +5 more
wiley   +1 more source