Results 51 to 60 of about 25,985 (194)

When to consider an inborn error of immunity: clues for physicians

Internal Medicine Journal, EarlyView.
Abstract The term inborn errors of immunity (IEIs) refers to the rapidly expanding group of genetic disorders causing dysregulation of the immune system. With improved genetic testing in recent years, the number of defined IEIs and their range of phenotypic presentations has grown vastly, with more than 550 IEIs now described.
Meera Thangarajah, Lucinda J. Berglund
wiley   +1 more source

Sector Classification of Unerupted Maxillary Canines: A Deep Learning‐Based Automated Framework Using Panoramic Radiographs

Orthodontics &Craniofacial Research, EarlyView.
ABSTRACT Objectives To develop a deep learning‐based framework to automate sector classification of unerupted maxillary canines (UMCs), assessing its accuracy and reliability compared to human ones. Material and Methods One thousand five hundred twenty‐eight UMCs from digital panoramic radiographs (PRs) were selected using data from the Dental ...
Marzio Galdi, Davide Cannatà, Flavia Celentano, Luigia Rizzo, Domenico Rossi, Tecla Bocchino, Genoveffa Tortora, Stefano Martina   +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  

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

Internal Jugular Vein as an Alternative Access for Pacemaker Implantation: A Mostly Left IJ Case Series

Pacing and Clinical Electrophysiology, EarlyView.
ABSTRACT Background Leadless pacemakers traditionally rely on femoral venous access, which may be limited in patients with unfavorable IVC anatomy, prior interventions, or situations where preserving femoral access is preferred. Internal jugular (IJ) access offers an alternative route, but real‐world data on IJ implantation of single‐ and dual‐chamber ...
Maya Asami Takagi, William Leon, Colin Mackenzie, Daniel Cortez   +3 more
wiley   +1 more source

Codocytosis in the Dog: 345 Cases (2020–2022)

Veterinary Clinical Pathology, EarlyView.
ABSTRACT Introduction Codocytes, or target cells, are a morphologic variation of erythrocytes characterized by increased membrane surface area relative to volume. In dogs, codocytosis is frequently noted on blood smear evaluation, but its clinical significance remains poorly understood. Objectives To characterize the clinical conditions associated with
Sarena M. Krojanker, Maria Jaramillo, Brad D. Cingolani, Floyd L. Williams Jr., Priscila B. S. Serpa, Andrew D. Woolcock   +5 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

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