Results 51 to 60 of about 55,611 (300)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Hearing in Noise Test in Subjects With Conductive Hearing Loss

Journal of the Formosan Medical Association, 2009
It has been reported that patients with pure conductive hearing loss (CHL) have remarked that their hearing is better in the presence of background noise.
Duen-Lii Hsieh, Kai-Nan Lin, Jung-Hung Ho, Tien-Chen Liu   +3 more
doaj   +1 more source

Bilateral sensorineural hearing loss due to mumps

International Journal of Clinical Practice, 1990
Viral infections implicated in acute hearing loss include rubella, measles, mumps, herpes zoster, cytomegalovirus and influenza. Mumps' deafness is the best documented disorder. We describe a case where bilateral sensorineural hearing loss, following a severe mumps infection at the age of two, remained unnoticed until the age of four when the patient ...
A, Kayan, H, Bellman
openaire   +2 more sources

Comparisons of unilateral and bilateral cochlear implantation for children: spatial listening skills and quality of life [PDF]

, 2010
Recently, controversy in the care of severely-profoundly deaf children has centred on whether they should be provided with bilateral cochlear implants (two implants, one in each ear) rather than a unilateral cochlear implant (one implant in one ear ...
Lovett, Rosemary Elizabeth Susan
core  

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

Clinical Practice Guideline for Evaluation and Management of Peripheral Nervous System Manifestations in Sjögren's Disease

Arthritis Care &Research, EarlyView.
Objective Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies.
Anahita Deboo, Robert Fox, Katherine M. Hammitt, Julie Frantsve‐Hawley, Matthew C. Baker, Stamatina Danielides, Eduardo De Sousa, Brent P. Goodman, Jennifer K. King, Steven Mandel, Ghaith Noaiseh, Pantelis P. Pavlakis, George Sarka, R. Hal Scofield, Arun Varadhachary, Daniel J. Wallace, Matt Makara, Nancy Carteron, Steven Carsons, in collaboration with the Consensus Expert Panel (CEP) members, G. Alden Adkins, Brittany Adler, Hossein Ansari, Senada Arabelovic, Alan Baer, Denis Balaban, Shamik Bhattacharyya, Evelyn Bromet, Krishna Chaganti, Kamal Chemali, Melissa Cortez, Schartess Culpepper, Paul Dellaripa, Dana Direnzo, Daniel El Bogdadi, Robert Fearon, Mehrnez Fischbach, Judi Furlong, Christopher Gibbons, Rachael Gordon, Thomas Grader Beck, Syed Haider, Larry Hollenbeck, Chadwick R. Johr, Stuart S. Kassan, Brian King, Octavia Kincaid, Eugene Kissin, Vasileios Kyttaris, Lindsay Lally, Brandon M. Law, Janet Lewis, Scott M. Lieberman, Amanda Lusa, Joseph Lutt, Rashmi Maganti, Arthur M. Mandelin, Sara McCoy, Kerry Neall, Timothy Niewold, Anne Louise Oaklander, Ruben A. Peredo‐Wende, Lynn Petruzzi, Mark A. Porter, Guada Respicio Duque, Tania Reyna, Nathaniel M. Robbins, Elliot D. Rosenstein, Laura Rosow, Breanna Ruthrauff, Amit Sachdev, Nora Sandorfi, Sarah Schafer, Elena Schiopu, Chokkalingam Siva, Daniel Small, Sara M. Stern, Lauren Stiles, Susan Stoddard, Jinny Tavee, Donald Thomas, Edward L. Treadwell, Nagagopal Venna, Steven Vernino, Frederick B. Vivino, Brittany Weber, Sepideh Yadollahi, Huiying Yu, Scott Zashin   +88 more
wiley   +1 more source

Comparison between Bilateral and Unilateral Sudden Sensorineural Hearing Loss

Chinese Medical Journal, 2018
Background: Bilateral sudden sensorineural hearing loss (BSSHL) is rare and assumed to be a different clinical entity compared to unilateral SSHL (USSHL). This study examined the differences between the idiopathic BSSHL and USSHL.
Dan Bing, Da-Yong Wang, Lan Lan, Li-Dong Zhao, Zi-Fang Yin, Lan Yu, Guo-Hui Chen, Jing Guan, Qiu-Ju Wang   +8 more
doaj   +1 more source

The Effects of Utilizing Cartilage Conduction Hearing Aids among Patients with Conductive Hearing Loss

Audiology Research, 2023
The cartilage-conduction hearing aid (CC-HA) is a new hearing device that is suitable for use in patients with conductive hearing loss. It has been 5 years since the introduction of the CC-HA.
Takuya Kakuki, Ryo Miyata, Yurie Yoshida, Aya Kaizaki, Ayami Kimura, Kaede Kurashima, Rui Kuwata, Kenichi Takano   +7 more
doaj   +1 more source

Rheumatologic Manifestations of Patients With Type B Insulin Resistance

Arthritis Care &Research, EarlyView.
Objective The objectives of this study were to identify laboratory and clinical features associated with type B insulin resistance (TBIR), a rare condition caused by autoantibodies that inhibit the insulin receptor, most frequently occurring in the setting of systemic lupus erythematosus (SLE), and to increase awareness of this rare, life‐threatening ...
S. Amara Ogbonnaya, Sandra G. Williams, Raphael A. Kirou, Marissa Lightbourne, Rebecca J. Brown   +4 more
wiley   +1 more source

Evaluating binaural hearing capabilities in individuals with sensorineural hearing loss through bilateral bone conduction stimulation

Scientific Reports
This study investigated the impact of bilateral bone conduction (BC) stimulation and sensorineural hearing loss on spatial release from masking, binaural intelligibility level difference, and lateralization.
Stefan Stenfelt, Mehrnaz Zeitooni, Elina Mäki-Torkko   +2 more
doaj   +1 more source