Results 311 to 320 of about 20,362,376 (387)

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach, Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li, Katherine Chao, Tanya J. Lehky, Abigail Potticary, Tracey A. Rouault, Sandra Donkervoort, Carsten G. Bönnemann   +11 more
wiley   +1 more source

Cervical Spinal Cord Magnetization Transfer Ratio and Its Relationship With Clinical Outcomes in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The cervical spinal cord (cSC) is highly relevant to clinical dysfunction in multiple sclerosis (MS) but remains understudied using quantitative magnetic resonance imaging (MRI). We assessed magnetization transfer ratio (MTR), a semi‐quantitative MRI measure sensitive to MS‐related tissue microstructural changes, in the cSC and its ...
Lisa Eunyoung Lee, Julien Cohen‐Adad, Irene M. Vavasour, Melanie Guenette, Katherine Sawicka, Neda Rashidi‐Ranjbar, Nathan Churchill, Akash Chopra, Adelia Adelia, Pierre‐Louis Benveniste, Anthony Traboulsee, Nathalie Arbour, Fabrizio Giuliani, Larry D. Lynd, Scott B. Patten, Alexandre Prat, Alice Schabas, Penelope Smyth, Roger Tam, Yunyan Zhang, Simon J. Graham, Mojgan Hodaie, Anthony Feinstein, Shannon Kolind, Tom A. Schweizer, Jiwon Oh, CanProCo Study Group   +26 more
wiley   +1 more source

Correlation Between Irisin and Cognitive Functions in Alzheimer Dementia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The myokine irisin, a recent positive mediator of exercise in the brain, shows neuroprotective functions against Alzheimer's disease (AD). The association between irisin and cognition has never been explored in a biologically defined cohort of patients.
Patrizia Pignataro, Manuela Dicarlo, Chiara Zecca, Daniele Urso, Maria Teresa Dell'Abate, Davide Vilella, Francesco Borlizzi, Roberta Zerlotin, Angela Oranger, Graziana Colaianni, Silvia Colucci, Maria Grano, Giancarlo Logroscino   +12 more
wiley   +1 more source

Glial Fibrillary Acidic Protein Astrocytopathy Based on a Two‐Center Chinese Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Glial fibrillary acidic protein astrocytopathy (GFAP‐A) is a recently defined nosological form belonging to the class of autoimmune inflammatory disorders affecting the central nervous system (CNS). Here, we report the clinical and MRI characteristics, treatment, and prognosis of a GFAP‐A cohort from two centers in China.
Ti Wu, Hao Zhang, Chao Gao, Qiuhua Yu, Moli Fan, Lin‐Jie Zhang, Haipeng Zhang, Hengri Cong, Yuzhen Wei, Chotima Böttcher, Alexej Verkhratsky, Friedemann Paul, Fu‐Dong Shi, Tian Song   +13 more
wiley   +1 more source

Observational Study of Tocilizumab in Children With Febrile Infection‐Related Epilepsy Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aimed to assess the efficacy and safety of using tocilizumab in children with febrile infection‐related epilepsy syndrome (FIRES) and explore tocilizumab‐related changes in interleukin (IL)‐6 levels. Methods Patients with FIRES admitted to the Intensive Care Unit (ICU) of Beijing Children's Hospital were retrospectively ...
Yushan He, Jie Wu, Chaonan Fan, Zheng Li, Jun Liu, Kechun Li, Quan Wang, Suyun Qian   +7 more
wiley   +1 more source

Clinical Characteristics of Parkinsonism in HTLV‐1‐Associated Myelopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Human T‐lymphotropic virus type 1 (HTLV‐1)‐associated myelopathy/tropical spastic paraparesis (HAM/TSP) is the classic neurological manifestation of HTLV‐1 infection; however, this virus has also been associated with other neurological disorders. Concurrent parkinsonism is relatively rare and presents diagnostic challenges.
Mika Dozono, Satoshi Nozuma, Shota Hirakata, Takashi Yoshida, Daisuke Kodama, Masakazu Tanaka, Eiji Matsuura, Ryuji Kubota, Hiroshi Takashima   +8 more
wiley   +1 more source

Understanding Mechanisms of Whole Brain and Regional Grey Matter Atrophy in Children With MOGAD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To investigate the mechanisms driving whole brain and regional grey matter (GM) volume changes along with their clinical correlates in paediatric myelin oligodendrocyte glycoprotein antibody (MOG‐Ab)–associated disease (MOGAD). Methods One‐hundred‐nine paediatric MOGAD patients from two UK centres underwent MRI at attack nadir and ...
Ermelinda De Meo, Riccardo Nistri, Michael Eyre, Cheryl Hemingway, Ming Lim, Thomas Rossor, Asthik Biswas, Kshitij Mankad, Ata Siddiqui, Sniya Sudhakar, Declan Chard, Frederik Barkhof, Arman Eshaghi, Olga Ciccarelli, Yael Hacohen   +14 more
wiley   +1 more source

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AACC Guidance Document on Laboratory Investigation of Acute Kidney Injury.

The Journal of Applied Laboratory Medicine, 2021
BACKGROUND Acute kidney injury (AKI) is a sudden episode of kidney damage or failure affecting up to 15% of hospitalized patients and is associated with serious short- and long-term complications, mortality, and health care costs.
P. F. Joe M. El-Khoury, MD Melanie P. Hoenig, Mbbs BScmed Graham R.D. Jones, DPhil, PhD FRCPath Edmund Lamb, MD Chirag R. Parikh, PhD Nicole V. Tolan, M. M. F. Perry Wilson   +7 more
semanticscholar   +1 more source

The clinical and laboratory investigation of dysbetalipoproteinemia

Critical reviews in clinical laboratory sciences, 2020
Familial dysbetalipoproteinemia (type III hyperlipoproteinemia) is a potentially underdiagnosed inherited dyslipidemia associated with greatly increased risk of coronary and peripheral vascular disease.
C. Boot, A. Luvai, R. Neely
semanticscholar   +1 more source