Results 61 to 70 of about 15,647 (258)

Ventricular dyssynchrony as a cause of structural disease in the heart of Dorper sheep

Onderstepoort Journal of Veterinary Research, 2004
Ventricular dyssynchrony is a disturbance of the normal, organized electromechanical coupling of the two ventricles. This condition has many causes, such as left bundle branch block, ventricular preexcitation, right ventricular pacing and right ...
J. Ker, E.C. Webb, C.F. Van der Merwe
doaj   +1 more source

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

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +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

T. rex cognition was T. rex‐like—A critical outlook on diverging views of the neurocognitive evolution in dinosaurs

The Anatomical Record, EarlyView.
Abstract A recent debate has emerged between Caspar et al. (2024) and Herculano‐Houzel (2023) on inferring extinct dinosaur cognition by estimating brain neuron counts. While thought‐provoking, the discussion largely overlooks the function of cognition, as well as partly neglects the difficulties involved in estimating neuron numbers, which according ...
Thomas Rejsenhus Jensen, Ivo Jacobs, Kristina Kverková, Lona Lalić, Alexandra Polonyiová, Patrik Stehlík, Stephan A. Reber, Mathias Osvath   +7 more
wiley   +1 more source

Acute changes in left atrial appendage function with premature ventricular complexes

Indian Heart Journal
Objectives: Left atrial appendage (LAA) dysfunction is a risk factor for stroke. Evidence shows that frequent premature ventricular complexes (PVCs) are associated with embolic stroke. Whether left atrial dysfunction is the bridging link between frequent
Suresh Kumar Sukumaran, Anish Bhargav, Sridhar Balaguru, Avinash Anantharaj, Santhosh Satheesh, Raja J. Selvaraj   +5 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

Holter Monitor Rhythm Parameters in Healthy Infants, Children, and Adolescents: Defining Reference Limits With Meta‐Analysis

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Background Ambulatory electrocardiography has been in clinical use for 5 decades. However, reference limits for rhythm parameters in healthy infants, children, and adolescents have not been adequately defined.
James J. Joyce, Soujanya Bogarapu, Collins Odhiambo, Sunita J. Ferns, Harold L. Kennedy   +4 more
doaj   +1 more source