Results 131 to 140 of about 5,985,809 (299)

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

The Comprehensive Live Cell‐Based Cytotoxicity Assay for Monitoring Disease Activity and Guiding Rescue Therapy in Acute Attacks of NMOSD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuromyelitis optica spectrum disorder (NMOSD) is a devastating neurological disease that lacks serological biomarkers that can accurately reflect disease activity. We established a live cell‐based assay (LCBA) using serum with endogenous complement to quantify the overall cytotoxicity, offering a novel functional tool for monitoring
Xiaona Xu, Jie Ding, Yupeng Du, Guibao Luo, Jinming Li, Rui Liu, Xiaoyi Xu, Xiao Li, Minshu Li, Wei Jiang, Chunsheng Yang   +10 more
wiley   +1 more source

Changes in Immune‐Inflammation Status and Prognosis in Pregnancy‐Related Cerebral Venous Thrombosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Distinguishing pathological changes from physiological adaptations in pregnancy‐related cerebral venous thrombosis (CVT) is clinically challenging. This study aimed to characterize coagulation, immune‐inflammation, and dehydration status in these patients and assess their prognostic value.
Xiaoming Zhang, Zilin Xu, Ran Duan, Chunxiao Lu, Da Zhou, Chen Zhou, Ran Meng, Xunming Ji   +7 more
wiley   +1 more source

Effects of myosin heavy chain (MHC) plasticity induced by HMGCoA-reductase inhibition on skeletal muscle functions. [PDF]

, 2011
The rate-limiting step of cholesterol biosynthetic pathway is catalyzed by 3-hydroxy-3-methylglutaryl coenzyme reductase (HGMR), whose inhibitors, the statins, widely used in clinical practice to treat hypercholesterolemia, often cause myopathy, and ...
Trapani, Laura, Moreno, Sandra, Swiezewska, Ewa, Campolongo, Patrizia, Melli, Luca, Linari, Marco, Jóźwiak, Adam, Fanelli, Francesca, Trezza, Viviana, Pallottini, Valentina, Segatto, Marco, Pucillo, Leopoldo Paolo   +11 more
core  

Boundary‐Dependent Sleep–Wake Dysregulation in Idiopathic Hypersomnia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Idiopathic hypersomnia (IH) presents with excessive daytime sleepiness (EDS) despite apparently preserved nocturnal sleep, challenging traditional models of hypersomnolence based on sleep loss or fragmentation. We aimed to test the hypothesis that EDS in IH reflects excessive stabilization of the sleep state, consistent with ...
Samantha Mombelli, Karine Lacourse, Hélène Blais, Anne‐Sophie Deshaies‐Rugama, Cynthia Thompson, Alex Desautels, Jacques Montplaisir, Milan Nigam, Christophe Moderie, Boshra Khajehpiri, Catherine Duclos, Jean Marc Lina, Julie Carrier, Nadia Gosselin   +13 more
wiley   +1 more source

Autoimmune Comorbidities as Modifiers of Phenotypic Heterogeneity in Facioscapulohumeral Dystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral dystrophy type 1 (FSHD1) shows clinical heterogeneity that is only partly explained by D4Z4 repeat unit (RU) size. Although immune and inflammatory mechanisms may contribute to disease variability, the prevalence and clinical impact of autoimmune diseases in FSHD remain unclear.
Jonathan Pini, Giulia Tammam, Andra Ezaru, Manuela Gambella, Benoît Sanson, Luisa Villa, Michele Cavalli, Mihai‐Bogdan Ioncea, Angela Puma, Sabrina Sacconi   +9 more
wiley   +1 more source

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez, Amy Tam, Siofra Carty, Monica Ferrer Socorro, Kathryn Yang, Darius Ebrahimi‐Fakhari   +5 more
wiley   +1 more source

Longitudinal trajectories of muscle impairments in growing boys with Duchenne muscular dystrophy.

PLoS ONE
BackgroundInsights into the progression of muscle impairments in growing boys with Duchenne muscular dystrophy (DMD) remain incomplete due to the frequent oversight of normal maturation as a confounding factor, thereby restricting the delineation of sole
Ines Vandekerckhove, Marleen Van den Hauwe, Tijl Dewit, Geert Molenberghs, Nathalie Goemans, Liesbeth De Waele, Anja Van Campenhout, Friedl De Groote, Kaat Desloovere   +8 more
doaj   +1 more source

Myostatin/Smad3 in Spinal Muscular Atrophy: Biomarkers of Disease Severity and Treatment Response

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Given the role of Myostatin (MSTN) in muscle homeostasis and its modulation by current spinal muscular atrophy (SMA) therapies, we investigated serum MSTN and, for the first time, its downstream effector Smad3 as candidate non‐invasive biomarkers in SMA patients undergoing disease‐modifying therapies (DMTs).
Giorgia Riolo, Claudia Dosi, Stefano Parravicini, Riccardo Zanin, Marta Cheli, Eleonora Giacopuzzi Grigoli, Amalia Canciello, Francesca Andreetta, Riccardo Masson, Silvia Bonanno, Stefania Marcuzzo, Lorenzo Maggi   +11 more
wiley   +1 more source

A Return to Normality: A Descriptive Qualitative Interview Study Exploring the Patient Experience of Gout Flare Resolution

Arthritis Care &Research, EarlyView.
Objective Although the definition of a gout flare is well established, the state of gout flare resolution has not yet been defined. This study aimed to explore patients’ experiences and perceptions of gout flare resolution. Methods Semistructured interviews were conducted with 24 people with gout, guided by open‐ended questions exploring their ...
Sarah Stewart, Anne Horne, Angelo Gaffo, Lisa K. Stamp, N. Lawrence Edwards, Nicola Dalbeth   +5 more
wiley   +1 more source