Results 51 to 60 of about 3,097,210 (306)

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Raman Microscopy at the Organic–Inorganic Interfaces in Human Calcified Aortic Valves Shows the Co‐Existence of Whitlockite Crystals and Carbonated Hydroxyapatite‐Mineralized Collagen Fibrils

Advanced Functional Materials, EarlyView.
This study advances our understanding of aortic valve stenosis by capturing spatially resolved chemical and structural changes at the nanoscale. The findings highlight the potential of combined Raman and electron microscopy for understanding calcification mechanisms across diverse tissue types.
Robin H. M. Van der Meijden, Carolien T. A Kuster, Amber van Broekhoven, Raphaela Allgayer, Luco Rutten, Rona Roverts, Marta Cerruti, Elena Macías‐Sánchez, Jan Hein Cornel, Salloua el Messaoudi, Anat Akiva, Nico Sommerdijk   +11 more
wiley   +1 more source

Bioprinting Organs—Science or Fiction?—A Review From Students to Students

Advanced Healthcare Materials, EarlyView.
Bioprinting artificial organs has the potential to revolutionize the medical field. This is a comprehensive review of the bioprinting workflow delving into the latest advancements in bioinks, materials and bioprinting techniques, exploring the critical stages of tissue maturation and functionality.
Nicoletta Murenu, Camilla Mussoni, Mateo S. Andrade Mier, Paula Buettner, Nathaly Chicaiza‐Cabezas, Yi‐Yu Robin Dai, Jessica Faber, Maren Fiedler, Zan Lamberger, Xuen Jen Ng, Vanessa Moessler, Anna Rederer, Jonas Roeder, Sabrina Stecher, Katinka Theis, Jeanette Weigelt, Silvia Budday, Gregor Lang, Natascha Schaefer   +18 more
wiley   +1 more source

Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome

Journal of the American College of Cardiology, 2017
Background Sudden arrhythmic death syndrome (SADS) describes a sudden death with negative autopsy and toxicological analysis. Cardiac genetic disease is a likely etiology. Objectives This study investigated the clinical utility and combined yield of post-
N. Lahrouchi, H. Raju, E. Lodder, E. Papatheodorou, J. Ware, M. Papadakis, R. Tadros, Della Cole, J. Skinner, J. Crawford, D. Love, C. Pua, Bee Y. Soh, Jaydutt Bhalshankar, R. Govind, J. Tfelt‐Hansen, B. Winkel, C. van der Werf, Y. Wijeyeratne, G. Mellor, J. Till, Marta C. Cohen, M. Tomé-Esteban, Sanjay Sharma, A. Wilde, S. Cook, C. Bezzina, M. Sheppard, E. Behr   +28 more
semanticscholar   +1 more source

Computational Modeling Meets 3D Bioprinting: Emerging Synergies in Cardiovascular Disease Modeling

Advanced Healthcare Materials, EarlyView.
Emerging advances in three‐dimensional bioprinting and computational modeling are reshaping cardiovascular (CV) research by enabling more realistic, patient‐specific tissue platforms. This review surveys cutting‐edge approaches that merge biomimetic CV constructs with computational simulations to overcome the limitations of traditional models, improve ...
Tanmay Mukherjee, Mehdi Salar Amoli, Sarah Rezapourdamanab, Lama Rita El Shammas, Martin L. Tomov, Emilio A. Mendiola, Vahid Serpooshan, Reza Avazmohammadi   +7 more
wiley   +1 more source

Sudden Cardiac Death and Arrhythmias.

Arrhythmia & Electrophysiology Review, 2018
Sudden cardiac death (SCD) and arrhythmia represent a major worldwide public health problem, accounting for 15-20 % of all deaths. Early resuscitation and defibrillation remains the key to survival, yet its implementation and the access to public ...
N. Srinivasan, R. Schilling
semanticscholar   +1 more source

Low‐Temperature Fabrication of Thymosin β4‐Loaded Soluble Microneedles to Promote Wound Healing by Specific Binding to Downregulated Immune Regulators Vsig4 and IL22rɑ2

Advanced Healthcare Materials, EarlyView.
Schematic diagram depicting the fabrication and application of thymosin β4 (Tβ4)‐loaded microneedle patches for wound treatment. The Tβ4 was loaded into chitosan (CS) and sucrose MNs under mild conditions (4°C, 65% relative humidity). The Tβ4 MN patch specifically binds to the downregulated immune regulators Vsig4 and IL22rα2, thereby accelerating ...
Shilong He, Mei Yuan, Changkang Feng, Yixuan Zhang, Jinjing Che   +4 more
wiley   +1 more source

Liquid Metal Microrobots for Magnetically Guided Transvascular Navigation

Advanced Materials, EarlyView.
Liquid metal‐based microrobots combine magnetic steering, intrinsic X‐ray visibility and softness, to navigate blood vessels even against flow. Under clinically relevant magnetic fields, liquid metal microrobots roll along vessel walls, cross endothelial barriers, and accumulate in target tissues.
Xiaohui Ju, Roshan Velluvakandy, Xianghua Wu, Miguel Angel Merlos Rodrigo, Zbyněk Heger, Kamila Bendíčková, Jan Frič, Martin Pumera   +7 more
wiley   +1 more source

Small intestinal bacterial overgrowth in variant transthyretin amyloidosis (A-ATTRv)

Orphanet Journal of Rare Diseases
Variant transthyretin amyloidosis (A-ATTRv) can lead to sensory, motor, and autonomic neuropathy, as well as a variety of gastrointestinal (GI) disorders.
Ana Moreno García, Mireia Grimalt Oliver, Juan González-Moreno, María Antonia Ribot-Sansó, Eugenia Cisneros-Barroso, Inés Losada López   +5 more
doaj   +1 more source

A narrative review of inherited arrhythmogenic syndromes in young population: role of genetic diagnosis in exercise recommendations

BMJ Open Sport & Exercise Medicine
Sudden cardiac death is a rare but socially devastating event, especially if occurs in young people. Usually, this unexpected lethal event occurs during or just after exercise. One of the leading causes of sudden cardiac death is inherited arrhythmogenic
Elena Arbelo, Gonzalo Grazioli, Carles Díez-López, Oscar Campuzano, Georgia Sarquella-Brugada, Sergi Cesar, Estefanía Martínez-Barrios, Rocío Toro, José Cruzalegui, Andrea Greco, Nuria Díez-Escuté, Patricia Cerralbo, Fredy Chipa, Norma Balderrábano   +13 more
doaj   +1 more source