Results 41 to 50 of about 6,519,330 (307)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian, Tianjia Zhu, Hao Huang, Shavonne L. Massey, Mark P. Fitzgerald, Darshana Parikh, Arastoo Vossough, Ingo Helbig, Nicholas S. Abend   +8 more
wiley   +1 more source

The Lupus Damage Index Revision Program: Results From the Item Generation and Reduction Phases

Arthritis Care &Research, EarlyView.
Objective A data‐driven and expert/patient consensus‐based project to develop a revised Systemic Lupus International Collaborating Clinics (SLICC)/American College of Rheumatology (ACR) Damage Index (SDI) is under way supported by SLICC, ACR, and the Lupus Foundation of America. Our objective is to report the item generation and reduction phase results
Burak Kundakci, Megan R. W. Barber, Ann E. Clarke, Sindhu R. Johnson, Anselm Mak, Hermine I. Brunner, Murat Inanc, Rosalind Ramsey‐Goldman, Guillermo Ruiz‐Irastorza, Ellen M. Ginzler, John G. Hanly, Alexandra Legge, Cynthia Aranow, Laurent Arnaud, Nathalie Costedoat‐Chalumeau, Dafna D. Gladman, Søren Jacobsen, Michelle Petri, Clovis A. Silva, Évelyne Vinet, Alexandre E. Voskuyl, SDI Revision Literature Review Groups, SDI Revision Delphi Panel, SDI Revision Item Reduction Committee, SDI Revision Clinical Domain Groups, Ian N. Bruce   +25 more
wiley   +1 more source

Consanguinity and the risk of congenital heart disease [PDF]

, 2012
Consanguineous unions have been associated with an increased susceptibility to various forms of inherited disease. Although consanguinity is known to contribute to recessive diseases, the potential role of consanguinity in certain common birth defects is
Hudgins, L., Shieh, J.T.C., Bittles, A.H.   +2 more
core  

Biointegrated Battery‐Based Electroceuticals

Advanced Materials, EarlyView.
Biointegrated batteries go beyond passive power to serve as active therapeutic platforms for delivering programmable electrical cues and bioactive agents. This review examines their mechanisms and applications and provides a framework to guide battery‐based therapeutic design and clinical translation.
Yan Zhou, Zhilian Yue, Zhiqi Chen, Danming Chao, Xiaoteng Jia, Gordon Wallace, Caiyun Wang   +6 more
wiley   +1 more source

Pulmonary arterial hypertension with left to right shunts: When to treat and/or close?

International Journal of Cardiology Congenital Heart Disease
Pulmonary arterial hypertension (PAH) is defined as increase in mean pulmonary arterial pressure and pulmonary vascular resistance (PVR). It can be associated with congenital heart disease (CHD) with the following subtypes: 1) uncorrected left-to-right ...
Michele D'Alto, Emanuele Romeo, Paola Argiento, Andrea Vergara, Eleonora Caiazza, Antonio Orlando, Rosa Franzese, Giancarlo Scognamiglio, Berardo Sarubbi, Konstantinos Dimopoulos   +9 more
doaj   +1 more source

Heart transplantation in adults with congenital heart disease

Archives of Cardiovascular Diseases, 2017
With the advances in congenital cardiac surgery and postoperative care, an increasing number of children with complex congenital heart disease now reach adulthood. There are already more adults than children living with a congenital heart defect, including patients with complex congenital heart defects. Among these adults with congenital heart disease,
Lucile, Houyel, Ngoc-Tram, To-Dumortier, Yannick, Lepers, Jérôme, Petit, Régine, Roussin, Mohamed, Ly, Emmanuel, Lebret, Elie, Fadel, Jürgen, Hörer, Sébastien, Hascoët   +9 more
openaire   +2 more sources

Lipoprotein(a) concentrations in adult congenital heart disease patients

, 2014
Introduction. Lipoprotein(a) (Lp(a)) contributes to the formation to atherosclerosis, promotes inflammation and stimulates prothrombotic processes. Methods.
Rodríguez-González, Fayna, Martínez Quintana, Efrén   +1 more
core   +1 more source

Long-term healthcare utilization, medical cost, and societal cost in adult congenital heart disease [PDF]

, 2020
Objective: Cost-of-illness studies in Adult Congenital Heart Disease (ACHD) have mainly been limited to hospitalizations. This is the first paper to provide a comprehensive overview from a societal perspective including inpatient and outpatient medical ...
Annemans, Lieven, Moniotte, S., Ombelet, F., Moons, Philip, Budts, Werner, de Hosson, M., Marelli, A., De Backer, Julie, Annemans, L., Van Bulck, Liesbet, Willems, R., de Hosson, Michèle, Goossens, E., Moons Julie De Backer, Philip, Budts, W., Van Bulck, L., De Groote, Katya, Goossens, Eva, Marelli, Arianne, De Groote, K., Willems, Ruben, Ombelet, Fouke, De Backer, J., Moniotte, Stéphane, Moons, Philip,   +24 more
core   +1 more source

A 3D Human Bone and Bone Marrow‐on‐a‐Chip Model for In Vitro Bone Remodeling and Immune Cell Maintenance

Advanced Science, EarlyView.
This study presents a human Bone (and Bone Marrow)‐on‐a‐Chip model based on native human bone scaffolds and autologous cells. Dynamic perfusion and sequential cell seeding replicate the physiological bone remodeling process in vitro, enabling the long‐term culture of functional, mature bone marrow immune subpopulations.
Nina Stelzer, Melanie‐Jasmin Ort, Kristian Händler, Emely Bortel, Ioanna Maria Dimitriou, Martin Textor, Georg N. Duda, Janosch Schoon, Uwe Marx, Uwe Kornak, Annika Winter, Bernhard Hesse, Stefanie Donner, Sebastian Hardt, Oliver Klein, Simon Reinke, Malte Spielmann, Sven Geißler   +17 more
wiley   +1 more source