Results 51 to 60 of about 3,570,712 (344)

SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas, Pablo Iruzubieta, Alberto Damborenea, Laura Pérez‐Fernández, Inmaculada Azorín, Juan Carlos Jiménez García, Ana Töpf, Pilar Martí, Lorena Fores‐Toribio, María Manterola, Rosana Blanco‐Mañez, Oihane Pikatza‐Menoio, Sonia Alonso‐Martín, Volker Straub, Aitziber L. Cortajarena, Adolfo López de Munain, David De Sancho, Lorea Blázquez, Juan J. Vilchez   +18 more
wiley   +1 more source

Insights Into the Antigenic Repertoire of Unclassified Synaptic Antibodies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We sought to characterize the sixth most common finding in our neuroimmunological laboratory practice (tissue assay‐observed unclassified neural antibodies [UNAs]), combining protein microarray and phage immunoprecipitation sequencing (PhIP‐Seq). Methods Patient specimens (258; 133 serums; 125 CSF) meeting UNA criteria were profiled;
Michael Gilligan, John R. Mills, Paulina Vargas, Naveen K. Paramasivan, Connie E. Lesnick, Eati Basal, Surendra Dasari, James P. Fryer, Shannon R. Hinson, Joseph Laporta, Amy Espinal, Dennis Fitzgerald, Carolina Garcia, Anna E. Morenkova, Paola Pergami, Anna Shah, Andrew Knight, Reghann LaFrance Corey, Vanda A. Lennon, Anastasia Zekeridou, Sean J. Pittock, Divyanshu Dubey, Andrew McKeon   +22 more
wiley   +1 more source

Magnetic Skin for Voice Disorders with Real‐Time Lip Translation

Advanced Intelligent Systems
The next generation of wearable technology is embodied by flexible, biocompatible magneto‐skin that seamlessly integrates with the body, offering tunable permanent magnetic properties to any surface it adheres to.
Montserrat Ramirez‐De Angel, Alexander Przybysz, Eckaard le Roux, Nora Alamoudi, Li Zhang, Saptami Suresh Shetty, Khaled N. Salama   +6 more
doaj   +1 more source

Voice Disorder, Job Stress, and COVID-19 in Teachers: Impacts in Times of Pandemic

Revista de Investigación e Innovación en Ciencias de la Salud
Introduction. The conditions of teachers' work during the COVID-19 pandemic affected teachers' lives regarding voice disorder and stress, even in emergency remote classroom situation. Objective.
Maria Madalena Ferreira do Bonfim, Leslie Piccolotto Ferreira, Adriane Mesquita de Medeiros, Ana Carolina Constantini, Maria Lúcia Vaz Masson   +4 more
doaj   +1 more source

Voice Disorder Identification by Using Machine Learning Techniques

IEEE Access, 2018
Nowadays, the use of mobile devices in the healthcare sector is increasing significantly. Mobile technologies offer not only forms of communication for multimedia content (e.g. clinical audio-visual notes and medical records) but also promising solutions
Laura Verde, G. De Pietro, Giovanna Sannino   +2 more
semanticscholar   +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

The Case of a 37‐Year‐Old Woman Presenting With Subacute Weakness and Paresthesias

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Acute intermittent porphyria (AIP) is a rare metabolic disorder that may present with subacute neuropathy and systemic symptoms, often leading to diagnostic delay. We report a 37‐year‐old woman with eight weeks of progressive bilateral upper extremity weakness and paresthesias, followed by lower extremity involvement and falls, in the setting ...
Peter Pacut, Joy Cannon, Neel Dixit, Qihua Fan   +3 more
wiley   +1 more source

Neuropsychiatric Symptoms Mimicking Dementia in a Patient Treated With Imatinib

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Tyrosine kinase inhibitors are the cornerstone of chronic myeloid leukemia treatment. Newer agents have more potency and a broader spectrum of action, but also a higher potential for neuropsychiatric side effects. We present a case of a patient on imatinib who developed progressive cognitive, mood, and behavioral alterations.
Ashley Jones, Samuele Bonomi, Keith E. Stockerl‐Goldstein, Randall J. Bateman   +3 more
wiley   +1 more source

Comparing the Voice Handicap Index Scores in Groups with Structural and Functional Voice Disorders

Journal of Rehabilitation, 2019
Objective: The effects of voice disorders vary from person to person. Occupation, work environment, life, and family reaction are variables that affect one’s perception of his/her own as an impaired voice. Voice Handicap Index (VHI) has not yet been used
Marzieh Jalalian, Majid Saleh, Naser Zarei, Ehsan Shekari, Samad Afshari   +4 more
doaj  

Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan, Elizabeth I. Pierpont, Amena S. Fine, Reena V. Kartha   +3 more
wiley   +1 more source