Results 81 to 90 of about 98,414 (282)

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Real‐World Performance of CSF Kappa Free Light Chains in the 2024 McDonald Criteria

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Kappa free light chains (KFLCs) in the cerebrospinal fluid (CSF) have a similar performance to CSF‐restricted oligoclonal bands (OCB) for multiple sclerosis (MS) diagnosis. To help with implementation, we set out to resolve several remaining uncertainties: (1) performance in a real‐world cohort and the 2024 McDonald criteria; (2 ...
Maya M. Leibowitz, Ryan Cooper, Stefania Kaninia, Kathryn I. Challis, Will Greenway, Maria Bonello, Mahmoud Elbahnasawi, Deborah T. Shode, Dominika Gajdasik, Victor Iliev, Alison M. E. Whitelegg, Ian Galea   +11 more
wiley   +1 more source

An open source statistical web application for validation and analysis of virtual cohorts

Scientific Reports
The conventional approach to developing medical treatments and medical devices usually covers pre-clinical and in-vitro investigations, in-vivo animal studies and clinical trials with humans.
Christian Ohmann, Takoua Khorchani, Alexandru Cracanel, Jan Brüning, Pablo Emilio Verde   +4 more
doaj   +1 more source

Food and COVID-19: Preventive/Co-therapeutic Strategies Explored by Current Clinical Trials and in Silico Studies

Foods, 2020
Foods, food ingredients, and their balanced consumption are recognized to have an important role in achieving or maintaining a state of wellbeing by acting as carriers of functional components and bioactive molecules.
Giacomo Di Matteo, Mattia Spano, Michela Grosso, Andrea Salvo, Cinzia Ingallina, Mariateresa Russo, Alberto Ritieni, Luisa Mannina   +7 more
doaj   +1 more source

A nonparametric approach for model individualization in an artificial pancreas [PDF]

, 2015
The identification of patient-tailored linear time invariant glucose-insulin models is investigated for type 1 diabetic patients, that are characterized by a substantial inter-subject variability.
Cobelli, Claudio, De Nicolao, G., DEL FAVERO, Simone, Magni, L., Messori, M., Toffanin, C.   +5 more
core   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce, Goknur Selen Kocak, José Verdú‐Díaz, Jorge Alonso‐Pérez, Kristl G. Claeys, Tanya Stojkovic, Gorka Fernández‐Eulate, Pascal Laforêt, Najoua Miladi, Filipe Di Pace, Cristiane Araujo Martins Moreno, Edmar Zanoteli, Conrad C. Weihl, Volker Straub, Ana Töpf, Jordi Díaz‐Manera, Sarcoglycan European Cohort Consortium, Adele D′Amico, Adolfo López de Munain, Alicia Alonso‐Jiménez, Ana Camacho‐Salas, Andrea Gangfuß, Andrés Nascimento, Anna Sarkozy, Anneke J. van der Kooi, Arturo Fraga‐Bau, Béla Melegh, Benedikt Schoser, Bjarne Udd, Blaz Koritnik, Carlos Ortez, Chiara Marini Bettolo, Chiara Panicucci, Claudia Weiss, Claudio Bruno, Claudio Semplicini, Cristina Dominguez‐González, Cristina Garrido, David Gómez‐Andrés, Edoardo Malfatti, Elena Pegoraro, Elke De Vos, Francina Munell, Gabriele Dekomien, Giacomo Pietro Comi, Giorgio Tasca, Isabelle Richard, Jan L. De Bleecker, Jana Haberlová, Jesper Helbo Storgaard, Johanna Palmio, John Vissing, Juan Carlos de Leon‐Hernández, Kinga Hadzsiev, Laura Costa‐Comellas, Lea Leonardis, Leroy ten Dam, Lidia González‐Quereda, Luca Bello, Luisa Politano, Manuela Santos, Marianne de Visser, Marie Rohlenová, Matteo Garibaldi, Michela Guglieri, Nicolas Deconinck, Nicoline Løkken, Omar Abdel‐Mannan, Pia Gallano, Roberto Fernández‐Torrón, Ulrike Schara‐Schmidt, Vincenzo Nigro, Vittoria Zangaro   +72 more
wiley   +1 more source

In Silico Trials of Prosthetic Valves Replicate Methodologies for Evaluating the Fatigue Life of Artificial Leaflets to Expand Beyond In Vitro Tests and Conventional Clinical Trials

Biomedicines
Background: Fatigue failure of artificial leaflets significantly limits the durability of prosthetic valves. However, the costs and complexities associated with in vitro testing and conventional clinical trials to investigate the fatigue life of leaflets
Pengzhi Mao, Min Jin, Wei Li, Haitao Zhang, Haozheng Li, Shilong Li, Yuting Yang, Minjia Zhu, Yue Shi, Xuehuan Zhang, Duanduan Chen   +10 more
doaj   +1 more source

Validation of a model-based virtual trials method for tight glycemic control in intensive care

BioMedical Engineering OnLine, 2010
Background In-silico virtual patients and trials offer significant advantages in cost, time and safety for designing effective tight glycemic control (TGC) protocols.
Shaw Geoffrey M, Pretty Christopher G, Lin Jessica, Le Compte Aaron J, Preiser Jean-Charles, Penning Sophie, Suhaimi Fatanah, Chase J Geoffrey, Moorhead Katherine T, Desaive Thomas   +9 more
doaj   +1 more source

Microenvironmental influence on microtumour infiltration patterns: 3D-mathematical modelling supported by: In vitro studies [PDF]

, 2018
Mathematical modelling approaches have become increasingly abundant in cancer research. Tumour infiltration extent and its spatial organization depend both on the tumour type and stage and on the bio-physicochemical characteristics of the ...
Calvo, Juan Carlos, Guerra, Liliana Noemi, Luján, Emmanuel, Marshall, Guillermo Ricardo, Rosito, María Sol, Soba, Alejandro, Soto, Daniela, Suárez, Cecilia Ana   +7 more
core   +1 more source