Results 151 to 160 of about 117,472 (257)

Radial outer retina reflectivity (RORR) sign in LAMP2‐associated retinopathy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To describe the radial outer retina reflectivity (RORR) sign in patients carrying pathogenic variants in the X‐linked lysosome‐associated membrane protein‐2 (LAMP2) gene and to review the histologic characteristics of LAMP2 expression in the human retina.
Rachael C. Heath Jeffery, Bohdan Kousal, Ulrike Grünert, Christine A. Curcio, Svetlana Cherepanoff, Tina M. Lamey, Michel Michaelides, Chrysanthi Tsika, Isabelle Chow, Omar A. Mahroo, Seungmin Lee, Martin Meliska, Milos Kubanek, Jakub Sikora, Siying Lin, Raymond C. B. Wong, Petra Liskova, Fred K. Chen   +17 more
wiley   +1 more source

An Unusual Case of 11αB‐Crystallin (CRYAB) Mutation as a Cause of Dilated Cardiomyopathy With Restrictive Physiology: A Case Report and Focused Review of the Literature

Clinical Case Reports
Several diseases have been linked to αB‐crystallin (CRYAB) mutation. However, this mutation is an uncommon cause that has been associated in recent years with the development of dilated cardiomyopathy.
Porras Bueno Cristian Orlando, Cruz Buitrago Roberto Hernando, Mariño Correa Alejandro, Cáceres Méndez Edward Andres, Eugenio Meek, Ríos Dueñas Edgar Giovanni   +5 more
doaj   +1 more source

Incidence of Childhood Dilated Cardiomyopathy in Sweden From 1991 to 2019: A National Population‐Based Study

Acta Paediatrica, EarlyView.
ABSTRACT Aim To study the incidence, survival, and mortality of dilated cardiomyopathy (DCM) in children in Sweden, 1991–2019. Methods Hospital records of 0–18‐year‐olds diagnosed with DCM over a 29‐year period were reviewed. The annual sex‐specific incidence rates of DCM were calculated as new disease cases, divided by the average Swedish same‐sex ...
Shalan Fadl, Stefan Särnblad, Tahir Taj, Håkan Wåhlander, Eva Fernlund, Jan Sunnegårdh   +5 more
wiley   +1 more source

Mendelian Randomization Study on the Associations Between Genetically Predicted Cardiovascular Disease Subtypes and the Risk of Developing Cardiomyopathies

Clinical and Applied Thrombosis/Hemostasis
Cardiomyopathies are commonly believed to have genetic origins; however, the connection between cardiomyopathies and cardiovascular diseases remains uncertain.
Qiaolin Tang MD, Xiangzhu Meng MD, Xiaowen Tu MD, PhD, Jian Zhang MD   +3 more
doaj   +1 more source

Nonischemic Dilated Cardiomyopathy

Reviews in Cardiovascular Medicine, 2014
Norman E, Lepor, Gerald, Pohost, Donna, Gallik   +2 more
openaire   +2 more sources

Human brain matters: Navigating the neuropathology of COVID‐19

Brain Pathology, EarlyView.
Severe COVID‐19 is associated with vascular dysregulation and chronic neuroinflammation, leading to axonal injury and neurodegeneration. In long COVID or PASC, persistent alterations in neuroimaging and biofluid biomarkers reflect ongoing neuronal damage and neuroinflammation, contributing to long‐term neurological symptoms including fatigue, cognitive
Juliana M. Nieuwland, Angelica Scaramuzza, Marianna Bugiani, Wilma D. J. van de Berg, Jinte Middeldorp   +4 more
wiley   +1 more source

A comprehensive review of cancer‐induced cardiac wasting

British Journal of Pharmacology, EarlyView.
Cancer is frequently accompanied by cachexia, a systemic syndrome characterized by progressive loss of skeletal muscle mass, with or without loss of fat mass. Increasing evidence indicates that cancer can also induce cardiac muscle wasting, which is associated with structural cardiac remodelling, impaired contractile function and the development of ...
Alessia Lena, Muhammad Shahzeb Khan, Ulrich Keller, Lars Bullinger, Dominik P. Modest, Markus S. Anker   +5 more
wiley   +1 more source

sGC stimulator BAY 41‐8543 improves survival and ventricular function in a rat model of doxorubicin‐induced cardiomyopathy with nephrotic syndrome

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Anthracyclines such as doxorubicin (DOXO) remain a cornerstone of cancer therapy but are associated with a high risk of cardiotoxicity and subsequent heart failure (HF). Impairment of NO/soluble guanylyl cyclase (sGC)/cGMP pathway has been reported in anthracycline‐induced cardiomyopathy.
Olga Gawrys, Petra Škaroupková, Soňa Kikerlová, Zdeňka Vaňourková, Martina Hüttl, Olga Lenčová, Kasin Yadunandam Anandam, Svenja Stomberg, Sönke Behrends, Barbara Szeiffová Bačová, Matúš Sykora, Lisa Dietz, Peter Sandner, Luděk Červenka, Martin Štěrba   +14 more
wiley   +1 more source

Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita

Clinical Genetics, EarlyView.
We report on two individuals with arthrogryposis multiplex congenita who were heterozygous for ACTC1 missense variants (NM_005159.5; c.325G>A, p.Glu109Lys and c.650A>C, p.Lys217Thr) and provide a characterization of these variants through in vitro studies.
Lauren Kerr, Pierre Moffatt, Lauren Hyer, Sarah Nossov, Noémi Dahan‐Oliel, Frank Rauch   +5 more
wiley   +1 more source

Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole‐Exome Sequencing: Insights Into Early‐Onset and Syndromic Forms

Clinical Genetics, EarlyView.
Pediatric cardiomyopathies (CM) are a heterogeneous group of disorders. Their genetic basis remains poorly defined, particularly in children with early‐onset and apparently isolated forms. With a diagnostic yield of 62.7%, our findings suggest that whole‐exome sequencing could improve the diagnosis, genetic counseling, and clinical management of ...
Luana Giovannangeli, Elise Daire, Kahia Messaoudi, Didier Herent, Nathalie Desjeux, Emilie Lacot‐Leriche, Sarah Sauval, Sabine Dirani, Pascal De Groote, Didier Klug, Jean‐Benoit Baudelet, Alexandre Delarue, Olivia Domanski, Pierre‐Alexandre Fontanges, Jamal Ghoumid, Luisa Marsili, Alexis Hermida, Florence Jobic, Guillaume Jedraszak   +18 more
wiley   +1 more source