Results 91 to 100 of about 107,750 (302)

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

MOGAD Is the Most Common Cause of Isolated Optic Neuritis in Children

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives The study aimed to characterize the clinical features, etiologies, and outcomes of isolated, first‐time pediatric ON in the post‐MOG‐IgG era. Methods This was a single‐center retrospective cohort study at Texas Children's Hospital of patients diagnosed with first‐time ON between 2018–2024, with follow‐up data collected through 2025.
Chaitanya Aduru, Akansha Chandrasekar, Kyla Blasingame, Jonathan Rosen, Jesse M. Levine, Karla Salazar, Madhuri Chilakapati, Rod Foroozan, Victoria Hardwick, Jonathan M. Yarimi, Nikita Shukla, Timothy E. Lotze, Kristen S. Fisher, Alexander J. Sandweiss   +13 more
wiley   +1 more source

Quantum computing and error correction

, 2001
The main ideas of quantum error correction are introduced. These are encoding, extraction of syndromes, error operators, and code construction. It is shown that general noise and relaxation of a set of 2-state quantum systems can always be understood as ...
Steane, Andrew, Steane, AM
core  

A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley   +1 more source

Neonatal Seizures: When to Consider and How to Investigate for an Inborn Error of Metabolism

Proceedings of Singapore Healthcare, 2010
Seizures occur more frequently in the neonatal period than in the remainder of childhood. Neonatal seizures can have different aetiologies. Inborn errors of metabolism are rare causes of seizures in the newborn.
Derrick Wei Shih Chan B Med Sci, MRCPCH (UK), Ee Shien Tan MBBS, MRCPCH (UK), Maureen Anne Cleary MD, MRCP (UK)   +2 more
doaj   +1 more source

Detection of error weight in the primitive BCH-code

, 2020
Исследованы свойства синдромов ошибок весом 1-4 в примитивных БЧХ-кодах С9 , приведен алгоритм определения кратности возникшей ошибки по ее синдрому, показана связь между предлагаемым алгоритмом и методом определителей Блейхута.
Спичекова, Н. В., Spichekova, N. V., Lipnitski, V. A., Липницкий, В. А.   +3 more
core  

Electroencephalographic Normalization as a Biomarker of Clinical Recovery in Down Syndrome Regression Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Down syndrome regression disorder is a syndrome characterized by subacute loss of cognitive, behavioral, and functional abilities in individuals with Down syndrome. Electroencephalography abnormalities are frequently observed during evaluation, but it remains unclear whether these findings represent a dynamic marker of disease ...
Jonathan D. Santoro, Mackenzie Silverman, Maeve C. Lucas, Mariam M. Yousuf, Samuel T. Otey, Stella V. Gray, Brittany Jordan, Madeline D. Kahan, Latanya D. Agurs, Michelle Van Hirtum Das, Deborah Holder, Devin King, Eileen A. Quinn, Ryan Kammeyer, Michael S. Rafii   +14 more
wiley   +1 more source

Quantum control of an oscillator with a Kerr-cat qubit

Nature Communications
Bosonic codes offer a hardware-efficient strategy for quantum error correction by redundantly encoding quantum information in the large Hilbert space of a harmonic oscillator. However, experimental realizations of these codes are often limited by ancilla
Andy Z. Ding, Benjamin L. Brock, Alec Eickbusch, Akshay Koottandavida, Nicholas E. Frattini, Rodrigo G. Cortiñas, Vidul R. Joshi, Stijn J. de Graaf, Benjamin J. Chapman, Suhas Ganjam, Luigi Frunzio, Robert J. Schoelkopf, Michel H. Devoret   +12 more
doaj   +1 more source

Malformation syndromes due to inborn errors of cholesterol synthesis [PDF]

Journal of Clinical Investigation, 2002
Cholesterol has long been known to function as both a structural lipid and a precursor molecule for bile acid and steroid hormone synthesis. In addition, this ubiquitous lipid is now known to contribute fundamentally to the development and function of the CNS and the bones, and, as detailed in other articles in this Perspective series, it plays major ...
openaire   +2 more sources

Neurochemical enhancement of conscious error awareness [PDF]

, 2012
How the brain monitors ongoing behavior for performance errors is a central question of cognitive neuroscience. Diminished awareness of performance errors limits the extent to which humans engage in corrective behavior and has been linked to loss of ...
Nandam, L. Sanjay, Nathan, PJ, Hester, Robert, O'Connell, RG, Wagner, Jo, Namdam, LS, Nathan, Pradeep J., Hester, R, Mattingley, JB, Bellgrove, MA, Wagner, J, Strudwick, Mark, Mattingly, JB, O'Connell, Redmond G., Bellgrove, Mark A., Sanjay Nandam, L, Mattingley, Jason B., Strudwick, M, O\u27CONNELL, REDMOND   +18 more
core   +1 more source