Results 51 to 60 of about 640,532 (307)

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Mining of Audiology Patient Records: Factors Influencing the Choice of Hearing Aid Type [PDF]

, 2012
Background This paper describes the analysis of a database of over 180,000 patient records, collected from over 23,000 patients, by the hearing aid clinic at James Cook University Hospital in Middlesbrough, UK. These records consist of audiograms (graphs
Oakes, Michael, Anwar Muhammad N, Anwar, Muhammad Naveed, Anwar, M N, Oakes Michael P, Oakes, Michael Philip, Anwar, Naveed, Michael P Oakes, Muhammad N Anwar   +8 more
core   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

How Easily Can AI Chatbots Spread Misinformation in Audiology and Otolaryngology?

OTO Open
Objective Chatbots powered by large language models (LLMs) have recently emerged as prominent sources of information. However, their ability to propagate misinformation as well as information, particularly in specialized fields like audiology and ...
W. Wiktor Jedrzejczak, Agata Szkiełkowska, Danuta Raj‐Koziak, Elżbieta Włodarczyk, Henryk Skarżyński, Krzysztof Kochanek   +5 more
doaj   +1 more source

Metabolic and Microvascular Risk Factors Associated With Brain Health in Type 1 Diabetes

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We examined relationships between metabolic factors, microvascular complications, and brain health in adults with type 1 diabetes. Fifty‐one adults were assessed for metabolic risk factors, microvascular complications, and cognitive function, with a subset completing brain MRI.
Jihyun Park, Emily J. Koubek, Richard Beare, Lynn Ang, Brian C. Callaghan, Rodica Pop‐Busui, Eva L. Feldman, Evan L. Reynolds   +7 more
wiley   +1 more source

Assessing pragmatic abilities in children with Autism Spectrum Disorders

Journal of Child Language Acquisition and Development, 2022
The aim of the study was to explore pragmatic skills in children with Autism Spectrum Disorder (ASD). Six children with ASD between ages 3 to 8 years were chosen as the participants.
Mudra Dudwadkar, Bhavani Venkatachalam, Yasha Chheda , Vrushali Shinde , Ankita Kale , Brajesh Priyadarshi   +5 more
doaj  

A Qualitative Analysis of Patient Perspectives and Preferences in Lupus Management to Guide Lupus Guidelines Development

Arthritis Care &Research, EarlyView.
Objective A patient‐centered approach for chronic disease management, including systemic lupus erythematosus (SLE), aligns treatment with patients’ values and preferences, leading to improved outcomes. This paper summarizes how patient experiences, perspectives, and priorities informed the American College of Rheumatology (ACR) 2024 Lupus Nephritis (LN)
Shivani Garg, Izzy Hartel, Lisa R. Sammaritano, Anca Askanase, Bonnie L. Bermas, Maria Dall'Era, Alí Duarte‐García, Victoria P. Werth, Brad Rovin, Reem A. Mustafa, Amy S. Turner, Bené Williams, Brian L. Ung, Hiya Bhavsar, Monique C. Gore‐Massy, Nahirannette Pulido, Natacha Guerrero, Natalie M. Smith, Wambui Machua, Linda T. Hiraki, Mary Beth Son   +20 more
wiley   +1 more source

The Effects of Noise and Simulated Conductive Hearing Loss on Physiological Response Measures During Interactive Conversations

, 2023
The purpose of this work was to study the effects of background noise and hearing attenuation associated with earplugs on three physiological measures, assumed to be markers of effort investment and arousal, during interactive communication. Twelve pairs
Rotger-Griful, Sergi, Susan Aliakbaryhosseinabadi, Tobias May, Rotger-Griful, Sergi,, Gitte Keidser, Keidser, Gitte, Dau, Torsten,, Dorothea Wendt, Sergi Rotger-Griful, Aliakbaryhosseinabadi, Susan,, Wendt, Dorothea, Keidser, Gitte,, Torsten Dau, Dau, Torsten, Aliakbaryhosseinabadi, Susan, May, Tobias,, Wendt, Dorothea,, May, Tobias   +17 more
core   +1 more source