Results 91 to 100 of about 3,182,382 (382)

FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier, Giulia F. Del Gobbo, Layla Mackay, Erika Wall, Madeline Couse, Laura M. McDonell, Mireille Cloutier, Matt C. Danzi, Jodi Warman‐Chardon, Pierre R. Bourque, Oksana Suchowersky, Alan Mears, Luke Seldenthuis, Wendy Mears, Laura Larrigan, Alexandre White‐Brown, Gerald Pfeffer, Dennis E. Bulman, David Dyment, Care4Rare Canada Consortium, Kym M. Boycott   +20 more
wiley   +1 more source

Music Interventions in Hyperacute and Acute Stroke Patients: A Randomized Controlled Pilot Feasibility Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Music interventions have been shown to have beneficial effects on hemodynamic parameters, pain, and anxiety in various medical settings. However, music interventions in the setting of acute stroke have not been studied. The objective of this trial was to perform a pilot feasibility study of music interventions in the setting of acute
Jeffrey J. Fletcher, Allison Edberg, Ronald Grifka, Joan Westendorp, Augusto Elias, Jacquie Knott, Elizabeth Martin, Fazeel Siddiqui   +7 more
wiley   +1 more source

Clinical Phenotyping of Long COVID Patients Evaluated in a Specialized Neuro‐COVID Clinic

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To report Long COVID characteristics and longitudinal courses of patients evaluated between 4/14/21–4/14/22 at the University of Pennsylvania Neurological COVID Clinic (PNCC), including clinical symptoms, neurological examination findings, and neurocognitive screening tests from a standardized PNCC neurological evaluation approach ...
Luana D. Yamashita, Neel Desai, Abigail R. Manning, Caitlin Pileggi, Sara Manning Peskin, Danielle K. Sandsmark, Dennis L. Kolson, Matthew K. Schindler   +7 more
wiley   +1 more source

Management and Outcomes in Confirmed or Suspected Acute Symptomatic Seizure: Role of Structured Outpatient Care

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Post‐discharge management and outcomes of acute symptomatic seizures (ASyS) remain underexplored. We analyzed post‐discharge ASM management and outcomes in ASyS patients undergoing continuous EEG (cEEG), including the role of outpatient care through a post‐acute symptomatic seizure (PASS) clinic. Methods We performed a single‐center,
Vineet Punia, MarieElena Byrnes, Nicolas R. Thompson, Neishay Ayub, Clio Rubinos, Sahar Zafar, Adithya Sivaraju, Zhong Ying, Jessica R. Fesler, Stephen Hantus, Post‐Acute Symptomatic Seizure Investigation and Outcomes Network (PASSION) investigators   +10 more
wiley   +1 more source

Are immigrant children admitted to intensive care at increased risk?

Swiss Medical Weekly, 2011
BACKGROUND:Racial and ethnic disparities in health care are significant predictors of the quality of health care received. Studies documenting these disparities are largely based on an adult chronic care model.
T Tritschler, FH Sennhauser
doaj   +1 more source

On rate optimality for ill-posed inverse problems in econometrics [PDF]

arXiv, 2007
In this paper, we clarify the relations between the existing sets of regularity conditions for convergence rates of nonparametric indirect regression (NPIR) and nonparametric instrumental variables (NPIV) regression models. We establish minimax risk lower bounds in mean integrated squared error loss for the NPIR and the NPIV models under two basic ...
arxiv  

Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Identifying functional measures that are both valid and reliable in the limb girdle muscular dystrophy (LGMD) population is critical for quantifying the level of functional impairment related to disease progression in order to establish clinical trial readiness in the context of anticipated therapeutic trials.
Stephanie M. Hunn, Lindsay N. Alfano, Aileen Jones, Amanda Butler, Linda P. Lowes, Megan A. Iammarino, Natalie F. Reash, Lindsay Pietruszewski, Sandhya Sasidharan, Melissa Currence, Jeffrey M. Statland, Talia Strahler, Robert Will, Matthew Wicklund, Stacy Dixon, Renee Augsburger, Tahseen Mozaffar, Katie M. Laubscher, Shelley R. H. Mockler, Katherine D. Mathews, Nikia Stinson, Doris G. Leung, Molly M. Stark, Rebecca A. Horton, Peter B. Kang, Meredith K. James, Amanda Clause, Conrad C. Weihl, Nicholas E. Johnson, GRASP‐LGMD Consortium   +29 more
wiley   +1 more source

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Marian Castro, Zachary Myers, Eric Choy, Derek Chan, Molly Easter, Sophia Y. Zhao, Madeline Babros, Ruchi Garg, Matthew Deardorff, Franklin Moser, Tyler Mark Pierson   +15 more
wiley   +1 more source

The Relationship between Illness Perception and Symptom Severity in Pa-tients with Irritable Bowel Syndrome

مجله دانشکده پزشکی اصفهان, 2011
Background: Patient`s illness perception is formed base on patient`s beliefs and perceived information about their condition and it may influence the individual’s mental health and how the patient deal with the medical condition.
Hamid Afshar, Reza Bagherian, Nasim Foroozandeh, Newsha Khorramian, Hamed Daghaghzadeh, Mohammad Reza Maracy, Peyman Adibi   +6 more
doaj  

Regularization matrices for discrete ill-posed problems in several space-dimensions [PDF]

arXiv, 2017
Many applications in science and engineering require the solution of large linear discrete ill-posed problems that are obtained by the discretization of a Fredholm integral equation of the first kind in several space-dimensions. The matrix that defines these problems is very ill-conditioned and generally numerically singular, and the right-hand side ...
arxiv