Results 71 to 80 of about 73,813 (262)

Facial nerve palsy: incidence of different ethiologies in a tertiary ambulatory

International Archives of Otorhinolaryngology, 2009
Introduction: The ethiologic diferencial diagnostic for facial nerve paralisis is still a challenge and the literature has shown conflictive results concerning its epidemiology.
Atolini Junior, Nédio, Jorge Junior, José Jarjura, Gignon, Vinícius de Faria, Kitice, Adriano Tomio, Prado, Letícia Suriano de Almeida, Santos, Vânia Gracia Wolff   +5 more
doaj  

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Vestibulocochlear Neuritis as a Paradoxical Reaction in an Immunocompetent Patient with Tuberculous Meningitis

Diagnostics
A 30-year-old previously healthy man presented with fever and headache. HIV tests yielded negative results. Cerebrospinal fluid (CSF) analysis revealed pleocytosis (619/µL), elevated protein (210.3 mg/dL) and adenosine deaminase levels, and decreased ...
Sekai Tsujimoto, Koji Hayashi, Mamiko Sato, Yuka Nakaya, Toyoaki Miura, Yasutaka Kobayashi   +5 more
doaj   +1 more source

North American Delphi Consensus Study on Sinonasal Malignancy Survivorship Care

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Survival for patients with sinonasal cancers has improved over the past decades, but there are no dedicated survivorship guidelines for this cohort. Objective To understand experts’ priorities and perspectives on key survivorship tenets (surveillance, second tumor screening, toxicity, and symptom management).
Matheus Sewastjanow‐Silva, Samagra Jain, Rita Snyder, Erin L. McKean, Ralph Abi Hachem, Nithin D. Adappa, J. Ken Byrd, Ricardo L. Carrau, Marc A. Cohen, Ivan H. El‐Sayed, Mathew N. Geltzeiler, Ehab Y. Hanna, Edward C. Kuan, Nyall R. London Jr., Zoukaa B. Sargi, Carl H. Snyderman, Marilene B. Wang, Ian J. Witterick, Shirley Y. Su   +18 more
wiley   +1 more source

Development of a sheep model of knee osteoarthritis and preliminary magnetic resonance–guided focused ultrasound evaluation

Animal Models and Experimental Medicine, EarlyView.
This study was the first to induce knee osteoarthritis (KOA) by administering monoiodoacetate to sheep to develop a novel animal model of KOA. Radiographic, gross, and histological changes consistent with KOA developed in all sheep; however, only two sheep developed behavioral signs of KOA pain. Magnetic resonance–guided focused ultrasound (MRgFUS) was
Xuejun Du, Andrew Spiteri, Arik Hananel, Abhijit Dighe, Richard J. Price, Xinlin Yang, Quanjun Cui   +6 more
wiley   +1 more source

Frequency‐ and Network‐Specific Changes in Functional Connectivity Reflect Pathophysiological Mechanisms across Parkinson's Disease Stages

Annals of Neurology, EarlyView.
Objective Parkinson's disease (PD) is increasingly conceptualized as a disorder of large‐scale brain networks, yet whether and how frequency‐specific functional connectivity reorganizes across stages remains poorly understood. In this study, we used high‐density electroencephalography (EEG) to characterize cortico‐cortical functional connectivity ...
Matteo Conti, Valentina D'Onofrio, Luca Lorenzon, Laura Ludovica Grassi, Davide Mascioli, Valerio Ferrari, Clara Simonetta, Sofia Pavan, Francesca Di Giuliano, Mariangela Pierantozzi, Tommaso Schirinzi, Diego Centonze, Maurizio Corbetta, Angelo Antonini, Alessandro Stefani, Andrea Guerra   +15 more
wiley   +1 more source

Facial nerve regeneration via body-brain crosstalk: The role of stem cells and biomaterials

Neurobiology of Disease
The human body is a complex, integral whole, and disruptions in one organ can lead to dysfunctions in other parts of the organ network. The facial nerve, as the seventh cranial nerve, arises from the brainstem, controls facial expression muscles and ...
Yuping Xie, Chuan Ma, Qiang Zhu, Ting Fu, Long Bai, Xiaorong Lan, Lin Liu, Jingang Xiao   +7 more
doaj   +1 more source

Morphological and morphometric aspects of the equine aortic valve: New insights for comparative studies in mammals

The Anatomical Record, EarlyView.
Abstract New data on the equine aortic valve obtained using advanced techniques is especially important given the greater availability of animal models for translational research. Here we characterized the morphological and morphometric aspects of the equine aortic valve from 60 healthy hearts collected at equine abattoirs.
Vitor Pires Pereira, Victoria Brondani de Oliveira, Carlos Eduardo Seyfert, Luciano de Morais‐Pinto   +3 more
wiley   +1 more source