Results 71 to 80 of about 331,160 (298)

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

Is there any link between vitamin D deficiency and vasovagal syncope?

Journal of Arrhythmia, 2020
Background This study aimed to investigate serum 25[OH]D levels between patients with vasovagal syncope (VVS) diagnosed with head‐up tilt table test (HUTT) and age‐matched healthy people.
Songül Usalp, Hatice Kemal, Ümit Yüksek, Belma Yaman, Aziz Günsel, Oğuzhan Edebal, Onur Akpınar, Levent Cerit, Hamza Duygu   +8 more
doaj   +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

Multimodal Autonomic Biomarkers Predict Phenoconversion in Pure Autonomic Failure

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Pure autonomic failure (PAF) presents with autonomic failure without other neurological features. A third develop central neurological features, fulfilling criteria for multiple system atrophy (MSA) and Lewy body diseases (LBD), including Parkinson's disease and Dementia with Lewy bodies.
S. Koay, E. Vichayanrat, F. Bremner, F. Valerio, R. Mackenzie, G. Chiaro, G. Ingle, P. McNamara, L. Watson, J. N. Panicker, M. P. Lunn, C. Mathias, V. Iodice   +12 more
wiley   +1 more source

Application of Head-up Tilt Table Testing in Children

Journal of the Formosan Medical Association, 2010
We investigated the application of head-up tilt table testing (HUT) and management of neurocardiogenic syncope (NCS) in children, as pediatric studies are limited.Seventy-nine patients (ages 6-18 years) underwent HUT for evaluation of syncope. Patient triggers and premonitory symptoms allowed the clinical diagnosis of NCS or non-NCS.
Shan-Miao Lin, Haw-Kwei Hwang, Haw-Kwei Hwang, Wei Ting Lai, Ming-Ren Chen, Ming-Ren Chen   +5 more
openaire   +4 more sources

Test-retest reliability and four-week changes in cardiopulmonary fitness in stroke patients: evaluation using a robotics-assisted tilt table

BMC Neurology, 2016
BackgroundExercise testing devices for evaluating cardiopulmonary fitness in patients with severe disability after stroke are lacking, but we have adapted a robotics-assisted tilt table (RATT) for cardiopulmonary exercise testing (CPET).
Jittima Saengsuwan, Lucia Berger, Corina Schuster-Amft, T. Nef, K. Hunt   +4 more
semanticscholar   +1 more source

NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder caused by NOTCH2NLC GGC repeat expansions, with heterogeneous clinical manifestations, including parkinsonism. Recent studies have identified NOTCH2NLC repeat expansions in patients with Parkinson's disease (PD) and atypical parkinsonism (aPM), suggesting ...
Han‐Lin Chiang, Kang‐Yang Jih, Cheng‐Tsung Hsiao, Fu‐Pang Chang, Justus Chunyu Chen, Yi‐Chu Liao, Yih‐Ru Wu, Yi‐Chung Lee   +7 more
wiley   +1 more source

Pediatric Syncope: An Examination of Diagnostic Processes, Therapeutic Approaches and the Role of the Tilt Test: Insights from an 18-Year Single-Center Experience

Children
Objectives: Syncope is a common cause of the transient loss of consciousness, with neurally mediated syncope (NMS) and particularly vasovagal syncope (VVS) being the most prevalent types among older children and adolescents.
Serra Karaca, Doruk Özbingöl, Pelin Karaca Özer, Mustafa Lütfi Yavuz, Kemal Nişli   +4 more
doaj   +1 more source

Age and the head-up tilt test outcome in syncope patients

Research in Cardiovascular Medicine, 2015
Background: The head-up tilt test (HUTT) is a useful diagnostic tool for syncope. Objectives: We sought to investigate the outcome of the HUTT in syncope patients and identify the relationship between age and different hemodynamic outcomes.
Rezvan Noormand, Akbar Shafiee, Gholamreza Davoodi, Fatemeh Tavakoli, Alireza Gheini, Ahmad Yaminisharif, Arash Jalali, Saeed Sadeghian   +7 more
doaj   +1 more source

Age-related cardiovascular response to tilt test in healthy volunteers of both sexes

Bangabandhu Sheikh Mujib Medical University Journal, 2020
This study aimed to assess the age-related changes in the cardiovascular response to tilt test in 90 healthy individuals of both sexes (age range: 18-60 years). Tilting was done at 600 for 10 min using a motorized tilt table.
Sadia Afrin Rimi, Sultana Ferdousi, Shamima Sultana   +2 more
doaj   +1 more source