Results 81 to 90 of about 23,912 (290)

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Ability of Surface Electrocardiography in Predicting Ventricular Arrhythmias in Dogs with Secondary Atrial Fibrillation

Animals
Atrial fibrillation (AF) and ventricular arrhythmias (VAs) are common pathological arrhythmias of dogs and are both associated with a poor prognosis in those with cardiac disease.
Giovanni Romito, Chiara Mazzoldi, Carlotta Valente, Helen Poser, Giulia Arcuri, Barbara Contiero, Carlo Guglielmini   +6 more
doaj   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

Significant Cardiac Rhythm Disturbances in Infant Bronchiolitis: A Holter-Based Prospective Analysis

Journal of Pediatrics: Clinical Practice
Objective: Bronchiolitis is a major cause of respiratory illness in infants. Few studies have demonstrated arrhythmias during bronchiolitis, including bradycardia and atrioventricular block, some requiring pacemaker implantation. However, the association
Allon Raphael, MPH, Hazar Asad, MD, Moshe Rav-Acha, MD, Oholi Tovia-Brodie, MD, Yoav Michowitz, MD, Ziv Dadon, MD, Yechiel Schlesinger, MD, Amiram Nir, MD   +7 more
doaj   +1 more source

Therapeutic Applications of Stimuli‐Based Release and Engineering of Extracellular Vesicles

Advanced NanoBiomed Research, EarlyView.
This review summarizes the effects of endogenous and exogenous stimuli, their effects on the natural release of extracellular vesicles, as well as their uptake and release. It also gives an overview of stimuli‐responsive EVs and their therapeutic applications. Extracellular vesicles (EVs), nano‐ to microsized lipid bilayer membrane‐bound particles, are
Gloria Kemunto, Kristen Dellinger
wiley   +1 more source

Mitral Valve Prolapse and Sudden Cardiac Death: A Systematic Review

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2018
Background The relationship between mitral valve prolapse (MVP) and sudden cardiac death (SCD) remains controversial. In this systematic review, we evaluate the relationship between isolated MVP and SCD to better define a potential high‐risk subtype.
Hui‐Chen Han, Francis J. Ha, Andrew W. Teh, Paul Calafiore, Elizabeth F. Jones, Jennifer Johns, Anoop N. Koshy, David O'Donnell, David L. Hare, Omar Farouque, Han S. Lim   +10 more
doaj   +1 more source

Essential embryology for the Canadian pathologists’ assistant

Anatomical Sciences Education, EarlyView.
Abstract Pathologists' assistants (PAs) are pivotal in healthcare, conducting autopsies and examining tissues under a pathologist's guidance. Embryology knowledge is crucial for PAs to accurately assess anomalies and identify pathologies. Yet, it is often overlooked in academic PA training programs.
Samantha H. Nacci, William Tsui, Fang‐I Lu, Avrum I. Gotlieb, Danielle C. Bentley   +4 more
wiley   +1 more source

Therapeutic drug monitoring of antimicrobials in a paediatric setting: A retrospective single‐centre study

British Journal of Clinical Pharmacology, EarlyView.
Aims Paediatric pharmacokinetics differ significantly from adults due to age‐related physiological changes, necessitating precise dose adjustments. However, data on therapeutic drug monitoring (TDM) implementation in paediatric setting remain limited.
Gianluca Gazzaniga, Stefano Agliardi, Riccardo Giossi, Alice Schianchi, Alessandra Romandini, Thomas Virdis, Silvia Nerini Molteni, Maria Luisa De Angelis, Stefania Paccagnini, Cecilia Gechtman, Alice Proto, Marco Fossati, Silvia Oliveri, Giulia Angela Pattarino, Elena Altieri, Agnese Graziosi, Arianna Pani, Romano Danesi, Stefano Martinelli, Costantino De Giacomo, Francesco Scaglione   +20 more
wiley   +1 more source