Results 121 to 130 of about 131,595 (265)

A Comprehensive Genetic and Bioinformatic Analysis Provides Evidence for the Engagement of COVID-19 GWAS-Significant Loci in the Molecular Mechanisms of Coronary Artery Disease and Stroke

Journal of Molecular Pathology
Cardiovascular diseases (CVDs) significantly exacerbate the severity and mortality of COVID-19. We aimed to investigate whether GWAS-significant SNPs correlate with CVDs in severe COVID-19 patients.
Alexey Loktionov, Ksenia Kobzeva, Anna Dorofeeva, Maryana Babkina, Elizaveta Kolodezhnaya, Olga Bushueva   +5 more
doaj   +1 more source

Comparative assessment of artificial intelligence chatbots' performance in responding to healthcare professionals' and caregivers' questions about Dravet syndrome

Epilepsia Open, EarlyView.
Abstract Objective Artificial intelligence chatbots have been a game changer in healthcare, providing immediate, round‐the‐clock assistance. However, their accuracy across specific medical domains remains under‐evaluated. Dravet syndrome remains one of the most challenging epileptic encephalopathies, with new data continuously emerging in the ...
Joana Jesus‐Ribeiro, Eugenia Roza, Bárbara Oliveiros, Joana Barbosa Melo, Mar Carreño   +4 more
wiley   +1 more source

Potential for use of Al/machine learning for pharmacovigilance: Is there a role for regulators?

British Journal of Clinical Pharmacology, EarlyView.
Christina Gao, Ashley M. Hopkins, Andrew Rowland, Stephen Bacchi   +3 more
wiley   +1 more source

Prenatal betamethasone–postnatal N‐methyl‐D‐aspartic acid model of spasms: Update on mechanisms and treatments

Epilepsia Open, EarlyView.
Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira, Antonia Schonwald, Chian‐Ru Chern, Kamya Shah, Jana Velíšková, Libor Velíšek   +5 more
wiley   +1 more source

Isolated absence epilepsy associated with a de novo FBXW7 missense variant in the F‐box domain

Epilepsia Open, EarlyView.
Abstract The FBXW7 gene encodes a substrate‐recognition component of the Skp1‐Cul1‐F‐box (SCF) E3 ubiquitin ligase complex, which targets key regulatory proteins for proteasomal degradation. Recently, loss‐of‐function FBXW7 variants have been associated with a novel neurodevelopmental disorder characterized by heterogeneous clinical features.
Anees Muhammad, Mohammad Sadegh Shams Nosrati, Alireza Dostmohammadi, Francesca Madia, Maria Margherita Mancardi, Stefania Fornarino, Luca Bosisio, Zahra Hoseini Tavassol, Mir Davood Omrani, Federico Zara, Marcello Scala   +10 more
wiley   +1 more source

DNA methylation-based clocks, tobacco smoking, and lung cancer risk

BMC Medicine
Background Biological age, estimated by DNA methylation-based (DNAm) clocks, has been reported to be associated with lung cancer risk. However, the extent to which tobacco smoking behaviours can explain this association and the extent to which DNAm ...
Ricardo Cortez Cardoso Penha, Justina Ucheojor Onwuka, Ryan Langdon, Torkjel M. Sandanger, Therese Haugdahl Nøst, Paolo Vineis, Mikael Johansson, Roger L. Milne, Pierre-Antoine Dugué, Caroline Relton, Matthew Suderman, James McKay, Mattias Johansson   +12 more
doaj   +1 more source

Outbreak Investigation using Genomic Epidemiology

, 2014
Whole genome shotgun sequencing of patient isolates is used to construct a dendrogram of isolates using single nucleotide variants.
openaire   +1 more source

Assessment of Maladaptive Exercise History Among Individuals With Eating Disorders: Validation of a Brief, Self‐Report Measure

European Eating Disorders Review, EarlyView.
ABSTRACT Objective Maladaptive exercise is a common symptom of eating disorders (EDs). While several measures exist to assess current maladaptive exercise, there are no validated self‐report tools to assess maladaptive exercise history—an important symptom domain among individuals with lifetime EDs.
Katherine Schaumberg, Hunna J. Watson, Laura M. Thornton, Hannah L. Kennedy, Shu H. Ong, Preston Roche, Kayla Costello, Wesley R. Barnhart, Sian B. Pauley‐Gadd, Rachael E. Flatt, Andreas Birgegård, Lisa Dinkler, Afrouz Abbaspour, Emma Forsén Mantilla, Elin Monell, Emma M. Frans, Sarah Barakat, Michaela A. Pettie, Richard Parker, Sarah Maguire, Jennifer Jordan, Martin A. Kennedy, Nailah Adams Morancie, Cynthia M. Bulik   +23 more
wiley   +1 more source

Disseminated Infection With Mycobacterium genavense in the Setting of HIV Infection Misdiagnosed as Sarcoidosis

Case Reports in Infectious Diseases
Mycobacterium genavense was first identified in a patient with HIV. Here, we describe a 40-year-old man with prolonged fever and mediastinal and abdominal lymphadenopathy, who was initially misdiagnosed with sarcoidosis.
Alireza Eskandari, Mitra Rezaei, Minoosh Shabani, Mihan Pourabdoullah, Afshin Moniri, Majid Marjani   +5 more
doaj   +1 more source

What happened after the epidemic? Equine influenza surveillance sheds light on sources and seasonal risk in the United Kingdom

Equine Veterinary Journal, EarlyView.
Abstract Background The epidemiology of equine influenza (EI) in the United Kingdom has not been systematically described since the 2019 epidemic. Objectives To summarise UK EI surveillance (2020–2024), quantify outbreak seasonality and assess movement‐related sources. Study Design Retrospective observational analysis of national surveillance and horse
Fleur Whitlock, John Grewar, Richard Newton   +2 more
wiley   +1 more source