Results 201 to 210 of about 863,837 (323)

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Evaluation of skin pigmentation effect on photoplethysmography signals using a vascular finger phantom with tunable optical and mechanical properties. [PDF]

J Biomed Opt
Osorio-Sanchez L, May JM, Kyriacou P.
europepmc   +1 more source

Acoustic Measures Capture Speech Dysfunction in Spinocerebellar Ataxia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxias (SCA) are hereditary cerebellar degenerative disorders with a common feature of dysarthria, involving impaired phonatory and articulatory control of speech, thereby affecting social communication. In this study, we investigated whether acoustic measures could objectively measure speech dysfunction and identify
Zena Fadel, Charlotte Hennessey, Hannah Lee, Pia Parekh, Sheng‐Han Kuo, Ami Kumar   +5 more
wiley   +1 more source

Photoplethysmography in Diverse Skin Tones: Evaluating Bias in Smartwatch Health Monitoring. [PDF]

Cureus
Asif S, AlSaafeen A, Nadar S, Nambiar S, Dannawi J, Korrapati NH, Wilkhoo HS.   +6 more
europepmc   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

Radiofrequency-Based Treatments for Facial Rejuvenation: A Systematic Review of Efficacy, Safety, and Patient-Centered Outcomes. [PDF]

Aesthet Surg J Open Forum
Kumar N, Hye Suh D, Lee SJ, Ryu HJ.
europepmc   +1 more source

Refractory Status Epilepticus Treated With Bilateral Pulvinar Deep Brain Stimulation—A Case Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT New‐onset refractory status epilepticus (NORSE) arises without an identifiable cause or prior epilepsy history, with a 16%–27% mortality rate and significant long‐term neurological sequelae. Neuromodulation such as deep brain stimulation (DBS) targeting the anterior and centromedian thalamic nuclei has shown promise when the traditional ...
Mengxuan Tang, Amerta Bai, Felipe Rodridgues Marques Ferreira, Sandipan Pati, Thaddeus Walczak, Benjamin Miller, Oladi Bentho, Thomas Henry, Ilo Leppik, Minoo Shams, Zhiyi Sha, Zachary Sanger, Theoden I. Netoff, Thomas Lisko, Anant Naik, Robert McGovern III, Sima Patel   +16 more
wiley   +1 more source

Beyond hypotension management: clinical mechanisms, risks, and efficacy of vasopressors in noncardiac surgery patients. [PDF]

Ann Med Surg (Lond)
Abbas Q, Mubashir A, Qadri M, Javaid H, Bhandari K.   +4 more
europepmc   +1 more source

Life‐Threatening Bradycardia in Anti‐NMDA‐Receptor Encephalitis and a Novel Use for Permanent Pacing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Pediatric anti‐NMDA receptor encephalitis (pNMDARE) is an autoantibody‐mediated disorder that can cause severe autonomic dysfunction, including symptomatic bradycardia and asystole. Dysautonomia can last for years, making it very challenging to manage.
Sarah Tucker, Abhijit Das, Andres Jimenez, Areeba Basit, Yike Jiang, Emily A. Smitherman, Heather Van Mater, Taylor Howard, Alexander J. Sandweiss, Kristen S. Fisher   +9 more
wiley   +1 more source

Discrimination and Integration of Phonological Features in Children with Autism Spectrum Disorder: An Exploratory Multi-Feature Oddball Protocol. [PDF]

Brain Sci
Zuo M, Zhang Y, Wang R, Huang D, Yu L, Wang S.   +5 more
europepmc   +1 more source