Results 171 to 180 of about 111,089 (390)

ECMO as a Bridge to Left Ventricular Assist Device or Heart Transplantation.

open access: yesJACC. Heart failure, 2021
E. DeFilippis   +11 more
semanticscholar   +1 more source

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue   +16 more
wiley   +1 more source

Intravenous Immunoglobulin Reduces Anti-HLA Alloreactivity and Shortens Waiting Time to Cardiac Transplantation in Highly Sensitized Left Ventricular Assist Device Recipients [PDF]

open access: bronze, 1999
Ranjit John   +9 more
openalex   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods   +16 more
wiley   +1 more source

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone   +13 more
wiley   +1 more source

Occupational Therapy’s Role with Ventricular Assist Devices and the Promotion of Travel Protocols [PDF]

open access: yes, 2020
An option for individuals diagnosed with end-stage heart failure is to receive a ventricular assist device (VAD). In 2006, Shepherd and Wilding produced an article regarding occupational therapy’s role during the VAD process as they anticipated a growing
Chandra, Natasha, Suplicki, Linda
core   +1 more source

Use of the Abiomed BVS 5000 Ventricular Assist Device for Myocardial Support Following Left Ventricular Aneurysmectomy: Case Report [PDF]

open access: bronze, 1997
Louis E. Samuels   +4 more
openalex   +1 more source

Intrapericardial Left Ventricular Assist Device for Advanced Heart Failure

open access: yesNew England Journal of Medicine, 2017
J. Rogers   +15 more
semanticscholar   +1 more source

Establishment of a humanized SCA2 mouse model carrying a CAA disruption preventing CAG repeat expansion in pathogenic genes

open access: yesAnimal Models and Experimental Medicine, EarlyView.
In this study, we established a mouse model in which CAG repeats do not undergo microsatellite instability (MSI) across generations. A humanized ATXN2 cDNA with four CAA interruptions within 73 CAG expansions was inserted into the Rosa26 locus of C57BL/6J mice. At the same time, a 23 CAG control mouse model was also generated.
Yao Zhang   +9 more
wiley   +1 more source

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