Results 231 to 240 of about 2,406,574 (279)

Evaluating the utility of data integration with synthetic data and statistical matching. [PDF]

Sci Rep
Ji E, Ohn JH, Jo H, Park MJ, Kim HJ, Shin CM, Ahn S.   +6 more
europepmc   +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

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +1 more source

Balancing Privacy and Utility in Child and Adolescent Mental Health Services Research: Retrospective Cohort Study on Synthetic Data Generation. [PDF]

JMIR Med Inform
Haizoune M, Leventhal BL, Pant D, Nytrø Ø, Koochakpour K, Koposov RA, Øhlckers LR, Skokauskas N.   +7 more
europepmc   +1 more source

CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao, Rong Li, Yu‐Xiang Jiao, Kai Ma, Hong‐Qi Yang, Zheng‐Yu Sun, Jie‐Wen Zhang, Shuai Chen   +7 more
wiley   +1 more source

Synthetic-data-driven LSTM framework for tracing cardiac pulsation in optical signals. [PDF]

Biomed Opt Express
Wu J, Bai S, Ozkaya Z, Patel JA, Skog E, Ruesch A, Smith MA, Kainerstorfer JM.   +7 more
europepmc   +1 more source

[18F]Fluorodeprenyl‐D2 PET as a Tool to Monitor Disease Activity in GAD65‐Ab Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate [18F]fluorodeprenyl‐D2 ([18F]F‐DED) positron‐emission tomography (PET) imaging as a biomarker of disease activity in autoimmune encephalitis (AIE) associated with glutamic acid decarboxylase 65 (GAD65) antibodies. Methods [18F]F‐DED PET was performed in 25 GAD65‐AIE patients and 8 controls using dynamic (0–60 min) and ...
Julia S. Dorneich, Jonathan A. Gernert, Hanna Zimmermann, Lisa Tagnin, Marianthi Zeinaki, Laura Sanzo, Letizia Vogler, Elisabeth Kaufmann, Justina Dargvainiene, Frank Leypoldt, Gérard N. Bischof, Robert Perneczky, Boris‐Stephan Rauchmann, Simon Lindner, Günter U. Höglinger, Rudolf A. Werner, Martin Kerschensteiner, Tania Kümpfel, Matthias Brendel, Franziska S. Thaler   +19 more
wiley   +1 more source

Enhancing Melanoma Diagnosis in Histopathology with Deep Learning and Synthetic Data Augmentation. [PDF]

Bioengineering (Basel)
Rodriguez Alonso A, Sanchez Diez A, Cancho Galán G, Ibarrola Altuna R, Irigoyen Miró G, Penas Lago C, Boyano López MD, Izu Belloso R.   +7 more
europepmc   +1 more source

Synthetic Data for the Get With The Guidelines-Stroke Registry. [PDF]

J Am Heart Assoc
Wang L, Manchanda V, Picotte H, Beon C, Hall JL, Zhao J, Feng X.   +6 more
europepmc   +1 more source

Predicting postoperative delirium after lung cancer resection: the utility of synthetic data and LIME algorithm for model interpretation. [PDF]

Sci Rep
Zhu Y, Liang R, Yang JJ, Zhou CM.
europepmc   +1 more source