Results 271 to 280 of about 88,543 (339)

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

American 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, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton‐Dahlöf, Yilmaz Yildiz, İlker Ertuğrul, Terry Derks, Dwight Koeberl, Emmeline Lagrange, Sabrina Vergnaud, Lidia Pezzani, Maria Iascone, Zornitza Stark, Adam M. Bournazos, Sandra T. Cooper, Gittan Kollberg   +16 more
wiley   +1 more source

Percutaneous mechanical circulatory support for acute right heart failure: A practical approach. [PDF]

ESC Heart Fail
Gramegna M, Vandenbriele C, Tavazzi G, Basir MB, Bleakley C, Iannaccone M, Kretzschmar D, Maisano F, Scandroglio AM, Schrage B, Schultze PC, Serrao G, Tomey M, Trimlett R, Westermann D, Montorfano M, Dangas G, Price S, Chieffo A.   +18 more
europepmc   +1 more source

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

American 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, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

The increasing utilization of ventricular assist devices in fontan failure. [PDF]

JHLT Open
Turner D, Mehdizadeh-Shrifi A, Chappell G, Morales DL.   +3 more
europepmc   +1 more source

Changes in hemodynamics of pulmonary artery using Flowire in a canine model of acute pulmonary thromboembolism

Animal Models and Experimental Medicine, EarlyView.
This study investigated changes in pulmonary artery hemodynamics using a Flowire catheter and evaluated the accuracy of Doppler echocardiography in dogs with acute pulmonary thromboembolism (PTE). Ten healthy beagles were anesthetized, and acute pulmonary hypertension (PH) was induced by injecting 300‐μm dextran microspheres.
Tomohiko Yoshida, Katsuhiro Matsuura, Akiko Uemura, Ryou Tanaka   +3 more
wiley   +1 more source

Artificial Intelligence-Enabled Point-of-Care Echocardiography: Bringing Precision Imaging to the Bedside. [PDF]

Curr Atheroscler Rep
East SA, Wang Y, Yanamala N, Maganti K, Sengupta PP.   +4 more
europepmc   +1 more source

Sheep femoral artery occlusion is well tolerated and does not result in ischemia

Animal Models and Experimental Medicine, EarlyView.
Left femoral artery occlusion (yellow arrows) can be seen shortly after the lateral femoral circumflex artery origin, with distal arterial reconstitution. Sheep with femoral artery occlusion showed no change in pain scores nor mobility, thus making them an appropriate model for novel small diameter femoral artery graft studies. Abstract Objective Sheep
Timothy Shiraev, Ziyu Wang, Lakshay Seth, Lisa Partel, Innes K. Wise, Hugh Paterson, John O'Sullivan, Sean Lal, Anthony S. Weiss, Paul Bannon, Robert D. Hume   +10 more
wiley   +1 more source

Mechanical Circulatory Support in Congenital Heart Disease. [PDF]

Children (Basel)
Lynch Á, Jeewa A.
europepmc   +1 more source

The Comprehensive Roadmap Toward Malaria Elimination Using Graphene and its Promising 2D Analogs

Advanced NanoBiomed Research, EarlyView.
Material based on a diversity of graphene with chemical properties of strong strength, high mobility, high transparency, good heat conductivity, biocompatibility, and chemical stability, advanced devices demonstrating antimalarial characteristics can be used for malaria treatment at different stages of malaria development from the injection of ...
Fangzhou He, George Junior, Rajashree Konar, Yuanding Huang, Ke Zhang, Lijing Ke, Meng Niu, Boon Tong Goh, Amine El Moutaouakil, Gilbert Daniel Nessim, Mohamed Belmoubarik, Weng Kung Peng   +11 more
wiley   +1 more source