Results 101 to 110 of about 21,665 (206)

Molecular dynamics simulations elucidate the misfolding mechanisms of secretion‐defective pancreatic lipase variants

The FEBS Journal, EarlyView.
Misfolding mutations in pancreatic lipase have been identified as potential contributors of chronic pancreatitis, an inflammatory disease of the human pancreas. Here, we describe the effect of these misfolding mutations on pancreatic lipase structure using molecular dynamics simulations and structural modeling.
Gyula Hoffka, András Szabó
wiley   +1 more source

Contextual Factors and Intentional Rounding in Acute Hospitals: Understanding What Works, for Whom, in What Settings: A Realist Synthesis

Journal of Clinical Nursing, EarlyView.
ABSTRACT Aim To synthesise published literature to understand how, when and under what circumstances Intentional Rounding in acute hospital settings improves patient safety and make recommendations for implementation in real‐world settings. Background Inpatient falls often result in injury due to complex interactions between the hospital environment ...
Aileen Hetherton, Jan Sorensen, Frances Horgan, Siobhan McCarthy   +3 more
wiley   +1 more source

Beyond the Adult Mind: A Developmental Framework for Predictive Processing in Infancy

Topics in Cognitive Science, EarlyView.
Abstract Predictive Processing has been proposed as the single unifying computation underlying all of cognition, and proponents argue that all psychological phenomena can be explained as consequences of this principle. This theoretical framework has inspired many cognitive scientists and neuroscientists, but it currently has no developmental mechanism ...
Emma K. Ward, Danaja Rutar, Lorijn Zaadnoordijk, Francesco Poli, Sabine Hunnius   +4 more
wiley   +1 more source

Interindividual variability in static apnoea performance is partly explained by genetic factors

Experimental Physiology, EarlyView.
Abstract A large interindividual variability exists in maximal apnoea duration and the physiological adjustments that occur during apnoea. Although a few genes have been found to be associated with some of the cardiovascular responses during apnoea, the extent to which genetic and environmental factors contribute to individual differences in apnoea ...
Anastasios Makris, Alexandros Sotiridis, Nickos Geladas, Kalliopi Gkouskou, Vassilis Klissouras, Maria D. Koskolou   +5 more
wiley   +1 more source

Repercussions of Diagnostic Delay in Rare Diseases

Journal of Genetic Counseling, Volume 35, Issue 4, August 2026.
ABSTRACT Rare diseases (RDs) are often subject to diagnostic delays due to their low prevalence, clinical variability, and limited professional awareness. This scoping review aimed to map the literature on these delays, examining their clinical, emotional, and socioeconomic consequences.
Luisa Rezende Batista, Luiza Fernandes Valente, Fernando Spina, Davi Said Gonçalves Celso, Israel Gomy, Christiane Mariotini‐Moura   +5 more
wiley   +1 more source

Case Report: Is it COPD? It is Fabry disease: a case in which bronchodilators were briefly used but not continued, prioritizing enzyme replacement therapy. [PDF]

Front Pharmacol
Li Y, Zhu H, Zhan Z, Li G, Huang S, Xiao C, Li Y, Zheng C, Huang F.   +8 more
europepmc   +1 more source

Targeting fibrosis in the treatment of lower urinary tract dysfunction

The Journal of Pathology, Volume 269, Issue 4-5, Page 493-503, August 2026.
Abstract Benign prostatic hyperplasia (BPH) is a widely prevalent age‐associated disease that is the main contributor to lower urinary tract dysfunction (LUTD) in aging men. Although prostate fibrosis has been recognized as a contributor to BPH pathophysiology, there are not any clinically available therapeutics that target this aspect of disease ...
Ajinkya R Limkar, Sophia M Vrba, Emily A Ricke, Zsuzsanna Fabry, Matthew S Lee, Kevin T McVary, William A Ricke   +6 more
wiley   +1 more source

Modeling Fabry nephropathy: insights from experimental systems towards precision nephrology. [PDF]

Dis Model Mech
Elsaid H, Furriol J, Eikrem Ø, Tøndel C, Svarstad E.   +4 more
europepmc   +1 more source

Effectiveness of Family Interventions in Bipolar Disorder: A Systematic Review

Bipolar Disorders, Volume 28, Issue 5, August 2026.
ABSTRACT Introduction Bipolar disorder (BD) is a chronic mental health condition characterized by extreme mood swings, which significantly affects both the individual and their family system. Given the psychosocial impact of BD on families, family interventions (FI) have emerged as a promising approach to improve treatment outcomes.
Madeha Umer, L. Almendra Burgos M, Nyla Syed, Changjun Xu, Terri Rodak, Cindy‐Lee Dennis, Farooq Naeem, Benoit Mulsant, Muhammad Ishrat Husain   +8 more
wiley   +1 more source

From diagnosis to disease-specific treatment: first experience with enzyme replacement therapy for Fabry disease in North Macedonia-a case series. [PDF]

Front Med (Lausanne)
Karanfilovski V, Nikolov IG, Dzekova Vidimliski P, Balkanov SK, Severova G, Stojanoska A, Gjorgjievski N.   +6 more
europepmc   +1 more source