Results 181 to 190 of about 3,853,988 (234)

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman   +9 more
wiley   +1 more source

Preservation of neutralizing antibody function in COVID-19 convalescent plasma treated using a riboflavin and ultraviolet light-based pathogen reduction technology. [PDF]

Vox Sang, 2021
Yonemura S, Hartson L, Dutt TS, Henao-Tamayo M, Goodrich R, Marschner S.   +5 more
europepmc   +1 more source

Validation of a Cellular Imaging‐Based Method as a Potential Biomarker for SPG4 Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Hereditary Spastic Paraplegia (HSP) comprises a group of rare genetic diseases characterized by length‐dependent axonal degeneration of the corticospinal tracts and dorsal columns, whose main clinical feature is spastic gait. Pathogenic variants in the SPG4 gene cause Spastic Paraplegia Type 4 (SPG4‐HSP), the most common form of HSP.
Gaia Fattorini, Valerio Licursi, Gianmarco Dalla Zanna, Flavio Dal Canto, Melissa Barghigiani, Nunzio Setola, Salvatore Rossi, Antonio Funcis, Filippo M. Santorelli, Gabriella Silvestri, Carlo Casali, Francesca Sardina, Cinzia Rinaldo   +12 more
wiley   +1 more source

Pathogen reduction of blood bank components: a matter of swings and roundabouts. [PDF]

Blood Transfus, 2020
Farrugia A, De Angelis V.
europepmc   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

Platelet component safety in the era of new advancements in bacterial screening and pathogen reduction: A congress report of the 2024 ISBT Transfusion-Transmitted Infectious Diseases Working Party, Bacteria Subgroup. [PDF]

Vox Sang
García-Otálora MA, McDonald C, Bearne J, Brown B, Cheng A, Humbrecht C, Tiberghien P, Ramirez-Arcos S, ISBT Transfusion‐Transmitted Infectious Diseases Working Party Subgroup on Bacteria.   +8 more
europepmc   +1 more source

Comparative Analysis of Choroid Plexus Volume Between MOG Antibody Associated Disease and Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Choroid plexus volume (CPV) has been proposed as a neuro‐immunological marker of multiple sclerosis (MS), but its relevance in myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD) remains uncertain. We analyzed CPV in 43 individuals with MOGAD, 48 with MS, and 44 healthy controls using a Bayesian Gaussian mixture modeling ...
Jae‐Won Hyun, Shaun G. Hong, Na Young Park, Su‐Hyun Kim, Ho Jin Kim   +4 more
wiley   +1 more source

Evaluation of bacterial safety approaches of platelet blood concentrates: bacterial screening and pathogen reduction. [PDF]

Front Med (Lausanne)
Rezvany MR, Moradi Hasan-Abad A, Sobhani-Nasab A, Esmaili MA.   +3 more
europepmc   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

The effects of pathogen reduction technology on apheresis platelet concentrates stored in PAS. [PDF]

Blood Transfus
Tsalas S, Tsantes AG, Petrou E, Mellou S, Sokou R, Loukopoulou E, Kriebardis AG, Fortis SP, Papadopoulos DV, Vaiopoulos AG, Kokoris S, Tsantes AE.   +11 more
europepmc   +1 more source