Results 141 to 150 of about 1,573,391 (311)

Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma

Molecular Oncology, EarlyView.
The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic, Anne Nørremølle, Lilian Bomme Ousager, Lars van Brakel Andersen, Marie Louise Mølgaard Binderup, Mads Thomassen   +5 more
wiley   +1 more source

Multidisciplinary, multicenter consensus for the care of patients affected with Sturge–Weber syndrome

Orphanet Journal of Rare Diseases
Background Sturge–Weber Syndrome (SWS) is a rare, sporadic neurocutaneous disorder affecting the skin, brain, and eyes, due to somatic activating mutations in GNAQ or, less commonly, GNA11 gene.
May El Hachem, Andrea Diociaiuti, Angela Galeotti, Francesca Grussu, Elena Gusson, Alessandro Ferretti, Carlo Efisio Marras, Davide Vecchio, Simona Cappelletti, Mariasavina Severino, Carlo Gandolfo, Simone Reali, Rosa Longo, Carmen D’Amore, Lodovica Gariazzo, Federica Marraffa, Marta Luisa Ciofi Degli Atti, Maria Margherita Mancardi, and the Sturge-Weber Syndrome Multidisciplinary Group   +18 more
doaj   +1 more source

A novel approach to cardiac troponins to improve the diagnostic work-up in chest pain patients

, 2012
In patients with acute chest pain, current guidelines recommend serial measurements of cardiac troponins at predefined and partly late time points. Consequently, diagnostic assessment in these patients tends to be lengthy and often results in unnecessary
Eggers, Kai M,, Jaffe, Allan S, Lindahl, Bertil,, Svennblad, Bodil,   +3 more
core   +1 more source

Dual PI3K/AKT and CDK4/6 inhibition reveals selective sensitivity in an SHH medulloblastoma stem cell model

Molecular Oncology, EarlyView.
Targeted therapy was evaluated in SHH medulloblastoma using neuroepithelial stem cell (NES) and tumor‐derived NES‐like (tNES) models in 2D monolayers and 3D spheroids. PI3K, AKT, and CDK4/6 inhibitors had minimal effects in NES but markedly reduced viability and growth and induced apoptosis in tNES cells, revealing distinct therapeutic vulnerabilities.
Monika Lukoseviciute, Madeleine Birgersson, Paolo Ceriani, Margareta Wilhelm, Ourania N Kostopoulou   +4 more
wiley   +1 more source

Profile of cases and factors associated with poor outcomes among patients admitted to the intensive care unit at a regional referral hospital in Bhutan: an observational study

BMC Health Services Research
Introduction Timely admission and treatment of critically ill patients to Intensive Care Units (ICU) is shown to reduce premature mortality. However, low- and middle-income countries face many challenges in providing ICU services.
Thinley Dorji, Sangay Wangmo, Sangay Tenzin, Tenzin Choden, Lok Bahadur Ghalley, Sangay Wangchuk, Choeda Gyaltshen, Kesang Namgyal   +7 more
doaj   +1 more source

Critical Thinking and Metacognition: Pathways to Empathy and Psychological Well-Being

Journal of Intelligence
This study examines the relationships between critical thinking, metacognition, psychological well-being, and empathy using structural equation modeling.
Miguel H. Guamanga, Carlos Saiz, Silvia F. Rivas, Patricia Morales Bueno   +3 more
doaj   +1 more source

Hippo pathway at the crossroads of stemness and therapeutic resistance in breast cancer

Molecular Oncology, EarlyView.
Dysregulation of the Hippo pathway drives nuclear accumulation of YAP/TAZ, activating stemness‐related transcriptional programs that sustain breast cancer stemness and fuel therapeutic resistance across subtypes, underscoring Hippo signaling as a targetable vulnerability. Figure created and edited with BioRender.com.
Giulia Schiavoni, Antonella Palmese, Stefano Scalera, Laura Cipriani, Davide Mascolo, Patrizia Vici, Teresa Arcuri, Lorena Filomeno, Eriseld Krasniqi, Giovanni Blandino, Giulia Bon, Marcello Maugeri‐Saccà   +11 more
wiley   +1 more source

Differential expression of cancer‐related genes supports prediction of poor response to first‐line treatments in T‐ALL pediatric patients with high minimal residual disease

Molecular Oncology, EarlyView.
In the present work, we have identified a transcriptional signature based on the differential expression of six genes (BCL2&MAST4, HSH2D&LAT2, METRN&PITPNM2) that would facilitate the early detection of T‐cell acute lymphoblastic leukemia (T‐ALL) patients prone to a poor treatment response and could be implemented at diagnosis, along with other risk ...
Antonio Lahera, Laura Vela‐Martín, Pablo Fernández‐Navarro, José Luis López‐Lorenzo, Javier Cornago, Pilar Llamas, Eduardo Pérez‐Gómez, José Luis Marín‐Rubio, Manuel Fresno, Javier Santos, José Fernández‐Piqueras, María Villa‐Morales   +11 more
wiley   +1 more source

Critical misalignments in climate pledges reveal imbalanced sustainable development pathways

Nature Communications
We explore the integration of climate action and Sustainable Development Goals (SDGs) in the first two submissions of nationally determined contributions (NDCs) using an AI-based, human-validated framework.
Francesca Larosa, Lamyae A. Rhomrassi, Sergio Hoyas, J. Alberto Conejero, Javier Garcia-Martinez, Fermin Mallor, Francesco Fuso Nerini, Ricardo Vinuesa   +7 more
doaj   +1 more source

Type 2 Diabetes, Obesity, and Cancer Share Some Common and Critical Pathways. [PDF]

Front Oncol, 2020
Rahman I, Athar MT, Islam M.
europepmc   +1 more source