Results 81 to 90 of about 63,462 (307)

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

High Health Care Utilization Preceding Diagnosis With Juvenile Idiopathic Arthritis

Arthritis Care &Research, EarlyView.
Objective Although early diagnosis improves long‐term outcomes, patients with juvenile idiopathic arthritis (JIA) often experience prolonged, circuitous paths to diagnosis. To inform diagnostic improvement, we sought to characterize health care utilization in the year preceding diagnosis. Methods We identified 10,021 patients with an incident diagnosis
Anna Costello, Rui Xiao, Xuemei Zhang, Jahan Jazayeri, Irit R. Rasooly, Pamela F. Weiss   +5 more
wiley   +1 more source

What are Nature-based solutions (NBS)? Setting core ideas for concept clarification

Nature-Based Solutions, 2022
B. Sowińska-świerkosz, Joan Garcia
semanticscholar   +1 more source

Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database

Molecular Genetics and Metabolism, 2016
Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency can present at various ages from the neonatal period to adulthood, and poses the greatest risk of complications during intercurrent illness or after prolonged fasting.
L. Pena, S. V. van Calcar, J. Hansen, M. Edick, Catherine Walsh Vockley, N. Leslie, C. Cameron, A. Mohsen, S. Berry, G. Arnold, J. Vockley   +10 more
semanticscholar   +1 more source

Revisiting Stability Criteria in Ball‐Milled High‐Entropy Alloys: Do Hume–Rothery and Thermodynamic Rules Equally Apply?

Advanced Engineering Materials, Volume 27, Issue 6, March 2025.
The stability criteria affecting the formation of high‐entropy alloys, particularly focusing in supersaturated solid solutions produced by mechanical alloying, are analyzed. Criteria based on Hume–Rothery rules are distinguished from those derived from thermodynamic relations. The formers are generally applicable to mechanically alloyed samples.
Javier S. Blázquez, Alejandro F. Manchón‐Gordón, Antonio Vidal‐Crespo, Rafael Caballero‐Flores, Jhon J. Ipus, Clara F. Conde   +5 more
wiley   +1 more source

Using Twitter Dataset for Social Listening in Singapore

IEEE Access
As a highly urbanized nation, Singapore faces unique urban planning challenges due to its geographical attributes and demographics. These include optimizing land and transportation, enhancing quality of life, and preparing for pandemics.
Qiongqiong Wang, Hardik B. Sailor, Kong Aik Lee, Kai Ma, Kim Huat Goh, Wai Fong Boh   +5 more
doaj   +1 more source

Parents’ Experiences of Receiving the Initial Positive Newborn Screening (NBS) Result for Cystic Fibrosis and Sickle Cell Disease

Journal of Genetic Counseling, 2016
The clinical advantages of the newborn screening programme (NBS) in the UK are well described in the literature. However, there has been little exploration of the psychosocial impact on the family. This study followed the principles of grounded theory to
J. Chudleigh, S. Buckingham, J. Dignan, S. O’Driscoll, Kemi Johnson, D. Rees, H. Wyatt, A. Metcalfe   +7 more
semanticscholar   +1 more source

Light‐Assisted 3D Printing Techniques and Photocrosslinking Strategies: Recent Advances in Musculoskeletal Tissue Engineering

Advanced Engineering Materials, EarlyView.
In this review, the current state of light‐assisted 3D printing as it pertains to engineering musculoskeletal tissues including bone, cartilage, skeletal muscle, tendon, and ligaments is summarized. Common printing techniques, photoreactive materials, and study design choices are compiled and reviewed.
Meagan Morgan, Bin Zhang, Roger Narayan
wiley   +1 more source

The Eucalyptus grandis NBS-LRR Gene Family: Physical Clustering and Expression Hotspots

Frontiers in Plant Science, 2016
Eucalyptus grandis is a commercially important hardwood species and is known to be susceptible to a number of pests and pathogens. Determining mechanisms of defense is therefore a research priority. The published genome for E.
N. Christie, P. Tobias, S. Naidoo, C. Külheim   +3 more
semanticscholar   +1 more source

Thermodynamic Pathways of Nonequilibrium Solidification in Wire‐Arc Additive Manufacturing Fe‐Based Multicomponent Alloy Structures

Advanced Engineering Materials, EarlyView.
Geometry‐driven thermal behavior in wire‐arc additive manufacturing (WAAM) influences microstructural evolution during nonequilibrium solidification of a chemically complex Fe–Cr–Nb–W–Mo–C nanocomposite system. By comparing different deposits configurations, distinct entropy–cooling rate correlations, segregation, and carbide evolution are revealed ...
Blanca Palacios, Anthony Gonzalez, Aleksander Aleman, Tyler Dolmetsch, Tanaji Paul, Arvind Agarwal   +5 more
wiley   +1 more source