Results 61 to 70 of about 63,517 (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

The Cryptococcus neoformans Titan cell is an inducible and regulated morphotype underlying pathogenesis

bioRxiv, 2017
Fungi undergo changes in cell shape in response to environmental stimuli that drive pathogenesis and niche adaptation, such as the yeast-to-hyphal transition of dimorphic fungi in response to changing temperature.
I. Dambuza, Thomas A. Drake, A. Chapuis, L. Taylor-Smith, Nathalie M. Legrave, T. Rasmussen, M. Fisher, T. Bicanic, T. Harrison, M. Jaspars, R. May, Gordon D. Brown, R. Yuecel, D. MacCallum, Elizabeth R. Ballou   +14 more
semanticscholar   +1 more source

Detection of Propadiene on Titan [PDF]

Astrophysical Journal, 2019
The atmosphere of Titan, the largest moon of Saturn, is rich in organic molecules, and it has been suggested that the moon may serve as an analog for the pre-biotic Earth due to its highly reducing chemistry and existence of global hazes.
N. Lombardo, N. Lombardo, N. Lombardo, C. Nixon, T. Greathouse, B. B'ezard, A. Jolly, S. Vinatier, N. Teanby, M. Richter, P. Irwin, A. Coustenis, F. Flasar   +12 more
semanticscholar   +1 more source

Retractions in Rheumatology: Trends, Causes, and Implications for Research Integrity

Arthritis Care &Research, EarlyView.
Objective We aimed to describe the trends and main reasons for study retraction in rheumatology literature. Methods We reviewed the Retraction Watch database to identify retracted articles in rheumatology. We recorded the main study characteristics, authors’ countries, reasons for retraction, time from publication to retraction, and trends over time ...
Anna Maria Vettori, Michele Iudici
wiley   +1 more source

Evaluating Web Interface Component Adequacy in Information Management Systems: A Hybrid Performance–Heuristic Approach

Journal of Emerging & Sustainable Smart Engineering
The interface components chosen during information management systems design have a significant impact on system usability and, consequently, on the accuracy of the data being managed. Despite the relevance of this design decision, the assessment of the
Pablo Villacrés
doaj   +1 more source

Artificial Intelligence in Systemic Sclerosis: Clinical Applications, Challenges, and Future Directions

Arthritis Care &Research, EarlyView.
Systemic sclerosis (SSc) is a rare autoimmune disease defined by immune dysregulation, vasculopathy, and progressive fibrosis of the skin and internal organs. Despite advances in care, major complications such as interstitial lung disease (ILD) and myocardial involvement remain the leading causes of morbidity and mortality.
Cristiana Sieiro Santos, José Miguel Sequí‐Sabater, Diego Benavent   +2 more
wiley   +1 more source

Perceived Impacts and Predictors of Cannabis Products Used by Patients with Rheumatologic Conditions in Alberta, Canada: A Multivariable Analysis of Cross‐Sectional Survey Data

Arthritis Care &Research, EarlyView.
Objective This study aimed to characterize cannabis product choices (cannabinoid content and formulation) among patients with rheumatologic conditions and their associations with patient factors, patient‐reported perceived side effects, and positive impacts.
Susan Zhang, Samuel A.J. Lowe, Frank Sun, Allyson Jones, Tarek Turk, Joanne Olson, Pauline Paul, Shelby Yamamoto, Linda Kolewaski, Elaine Yacyshyn, Cheryl A. Sadowski   +10 more
wiley   +1 more source

A model intercomparison of Titan's climate and low-latitude environment

Icarus (New York, N.Y. 1962), 2019
Cassini-Huygens provided a wealth of data with which to constrain numerical models of Titan. Such models have been employed over the last decade to investigate various aspects of Titan's atmosphere and climate, and several three-dimensional general ...
J. Lora, T. Tokano, Jan Vatant d'Ollone, S. Lebonnois, R. Lorenz   +4 more
semanticscholar   +1 more source

Distinct Systemic Sclerosis Phenotypes Related to Ethnicity: An Opportunity to Personalize Care?

Arthritis Care &Research, EarlyView.
Objective The objective is to describe and compare demographic, clinical, and serological characteristics of patients with systemic sclerosis (SSc) according to ethnic background. Methods Participants enrolled in the Canadian Scleroderma Research Group cohort who self‐identified to a single ethnicity group were included.
Danick Goulet, Camille Guertin, Maggie Larché, Isabelle Ferdinand, Marie Hudson, May Y. Choi, Mohammed Osman, Janet Pope, Carter Thorne, Murray Baron, Sasha Bernatsky, Sabrina Hoa   +11 more
wiley   +1 more source

Low‐Angle Grain Boundaries and Re‐Segregation in Single‐Crystalline Ni‐Base Superalloys

Advanced Engineering Materials, EarlyView.
This work demonstrates that Re‐segregation at low‐angle grain boundaries (LAGBs) in Ni‐base superalloys is influenced by misorientation angle. Advanced microscopy and atom probe tomography reveal that higher misorientation angles increases Re‐segregation.
Alireza B. Parsa, Aparna Saksena, Alesander Kostka, Pascal Thome, Felicitas Scholz, Alexandre Mussi, Christoph Somsen, Baptiste Gault, Jan Frenzel, Gunther Eggeler   +9 more
wiley   +1 more source