Results 51 to 60 of about 33,330 (271)

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden, Katlyn E. McGrattan, Peter B. Kang   +2 more
wiley   +1 more source

Comparison Between Simulated and Actual Unilateral Hearing in Sequentially Implanted Cochlear Implant Users, a Cohort Study

Frontiers in Surgery, 2019
Introduction: Previous studies have proven the effectiveness of bilateral cochlear implantation compared to unilateral cochlear implantation. In many of these studies the unilateral hearing situation was simulated by switching off one of the cochlear ...
Alice van Zon, Yvette E. Smulders, Veronique J. C. Kraaijenga, Gijsbert A. van Zanten, Robert J. Stokroos, Inge Stegeman   +5 more
doaj   +1 more source

Restoration of Deafferentation Reduces Tinnitus, Anxiety, and Depression: A Retrospective Study on Cochlear Implant Patients

Neural Plasticity, 2021
Patients with profound bilateral deafness (BD) are prone to suffering from tinnitus, which further leads to psychological comorbidities and makes it more difficult for patients to communicate with people.
Juanmei Yang, Jing Song, Xiang Zhao, Carol Pang, Ning Cong, Zhao Han   +5 more
doaj   +1 more source

Cochlear Implantation in Patients with Mitochondrial Gene Mutation: Decline in Speech Perception in Retrospective Long-Term Follow-Up Study

Life, 2022
Clinical evidence of the effectiveness of cochlear implantation for hearing loss with mitochondrial DNA mutation is limited. Most reports have only described short-term postoperative speech perception, which may not reflect the limitations of cochlear ...
Kai Kanemoto, Akinori Kashio, Erika Ogata, Yusuke Akamatsu, Hajime Koyama, Tsukasa Uranaka, Yujiro Hoshi, Shinichi Iwasaki, Tatsuya Yamasoba   +8 more
doaj   +1 more source

Optimal management of Cogan’s syndrome: a multidisciplinary approach [PDF]

, 2017
Cogan's syndrome (CS) is a rare disorder characterized by nonsyphilitic interstitial keratitis (IK) and audio-vestibular symptoms. CS affects mainly young Caucasian adults, mostly during their first three decades of age, and may develop into typical and ...
D'Aguanno, Vittorio, de Vincentiis, Marco, Greco, Antonio, Ralli, Massimo   +3 more
core   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

A Clinical Feasibility Study of Spinal Evoked Compound Action Potential Estimation Methods

Neuromodulation: Technology at the Neural Interface, EarlyView., 2021
Abstract Objectives Spinal cord stimulation (SCS) is a treatment for chronic neuropathic pain. Recently, SCS has been enhanced further with evoked compound action potential (ECAP) sensing. Characteristics of the ECAP, if appropriately isolated from concurrent stimulation artifact (SA), may be used to control, and aid in the programming of, SCS systems.
Krishnan Chakravarthy, James FitzGerald, Andrew Will, Karen Trutnau, Robert Corey, David Dinsmoor, Leonid Litvak   +6 more
wiley   +1 more source

Inner Ear Active Hearing Device in Non-Otosclerotic, Severe, Mixed Hearing Loss [PDF]

, 2016
OBJECTIVE: To verify the efficacy of a powerful active hearing device in a patient different from far-advanced otosclerosis, specifically when the stapes footplate is mobile.
Barbara, Maurizio, Covelli, Edoardo, Filippi, Chiara, Monini, Simonetta, Volpini, Luigi   +4 more
core   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Preliminary speech recognition results after cochlear implantation in patients with unilateral hearing loss: a case series

Journal of Medical Case Reports, 2011
Introduction Cochlear implants known to provide support in individuals with bilateral hearing loss may also be of great benefit for individuals with unilateral hearing loss.
Stelzig Yvonne, Jacob Roland, Mueller Joachim   +2 more
doaj   +1 more source