Results 101 to 110 of about 174,820 (257)

Slowing Down Water: Enhanced and Cation‐responsive MRI Contrast

open access: yesAngewandte Chemie, EarlyView.
The controlled modification of mesoporous silica nanoparticle side walls with kosmotropic motifs supports an ability to reduce water diffusive mobility and dramatically increase MRI contrast to levels unprecedented for highly kinetically stable Gd‐DOTA configurations (both q = 1 and q = 0).
Connor M. Ellis   +5 more
wiley   +2 more sources

Vascular Abnormalities in Hypermobile Ehlers–Danlos Syndrome: A Retrospective Cohort Study

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypermobile Ehlers–Danlos syndrome (hEDS), while generally free from severe vascular complications, may occasionally present with cardiac and vascular abnormalities that warrant specific investigation. While studies have been conducted on the prevalence of cardiac involvement, none have focused on vascular aspects. This retrospective study was
Thomas Gehin   +4 more
wiley   +1 more source

[Cardiac magnetic resonance imaging]. [PDF]

open access: yesNihon rinsho. Japanese journal of clinical medicine, 2012
Motonori, Nagata, Hajime, Sakuma
  +5 more sources

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo   +3 more
wiley   +1 more source

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

open access: yesAmerican 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   +6 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen   +5 more
wiley   +1 more source

Animal models of chronic thromboembolic pulmonary hypertension

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Current animal models of CTEPH. Created using BioRender.com. Abstract Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare, yet life‐threatening disorder characterized by persistent pulmonary vascular obstruction and elevated pulmonary artery pressure, with progressive remodeling and subsequent right heart failure.
Yong‐Jian Zhu   +5 more
wiley   +1 more source

The Role of Cardiac Magnetic Resonance in mRNA COVID-19 Vaccine-Related Myopericarditis: An Evolutive Case Series

open access: yesJournal of Cardiovascular Development and Disease
Numerous cases of myocarditis related to mRNA vaccines for COVID-19 have recently been described, usually in young men. Long-term evolutive cardiac magnetic resonance imaging (CMR) data are lacking.
Gisela Feltes   +5 more
doaj   +1 more source

Research progress on biomarkers of traumatic brain injury

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Traumatic brain injury: From primary insult to secondary neuroinflammation and degeneration. Abstract Traumatic brain injury (TBI) is a common disorder of the nervous system and has become a leading cause of death and disability worldwide, imposing a substantial burden on patients and their social circles. Its main symptoms include dyskinesia, language
Xuting Shen   +8 more
wiley   +1 more source

Regional gas exchange evaluation during ex vivo lung perfusion in a swine model of localized lung dysfunction

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Abstract Background Ex vivo lung perfusion (EVLP) allows the evaluation of lungs that do not meet standard transplantation criteria. Current procedures do not permit the identification of regional functional deficits. We investigated the feasibility of assessing lobar gas exchange during EVLP in a swine model.
Giulia Maria Ruggeri   +16 more
wiley   +1 more source

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