Results 41 to 50 of about 172,130 (301)

Sensorineural hearing loss in neurobrucellosis

Neurosciences, 2008
Neurobrucellosis (NB) is a rare clinical presentation of brucellosis. This form is hard to diagnose because of a lack of definite diagnostic criteria, and its treatment is also hard. The clinical spectrum may cover a span between non-specific neurological symptoms to a severe meningoencephalitis.
Gonul, Sengoz, Kadriye K, Yasar, Filiz, Yildirim, Ozcan, Nazlican   +3 more
openaire   +2 more sources

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

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

GATA4‐Driven Transcription of HtrA1 Promotes Cellular Senescence in Ménière's Disease and Age‐Related Audio‐Vestibular Dysfunction

Advanced Science, EarlyView.
This study identifies the HDAC6/GATA4/HtrA1 axis as a critical driver of cellular senescence in the inner ear. GATA4 nuclear translocation, facilitated by HDAC6 downregulation, transcriptionally activates HtrA1, promoting hair cell senescence, SASP, and audio‐vestibular dysfunction in models of Ménière's disease and age‐related audio‐vestibular ...
Na Zhang, Na Li, Yan Wang, Jing Zhang, Jiahui Liu, Lei Chen, Yongdong Song, Yurong Mu, Yuechen Han, Yafeng Lyu, Xiaofei Li, Hanyue Wang, Jing Wang, Yao Lu, Zhaomin Fan, Daogong Zhang, Haibo Wang   +16 more
wiley   +1 more source

Delayed diagnosis of a patient with Usher syndrome 1C in a Louisiana Acadian family highlights the necessity of timely genetic testing for the diagnosis and management of congenital hearing loss

SAGE Open Medical Case Reports, 2017
Advances in sequencing technologies and increased understanding of the contribution of genetics to congenital sensorineural hearing loss have led to vastly improved outcomes for patients and their families.
Ayesha Umrigar, Amanda Musso, Danielle Mercer, Annette Hurley, Cassondra Glausier, Mona Bakeer, Michael Marble, Chindo Hicks, Fern Tsien   +8 more
doaj   +1 more source

A Rare Case of Vertebrobasilar Dolichoectasia Presenting with Ipsilateral Facial Paresis and Concomitant Severe Sensorineural Hearing Loss

Philippine Journal of Otolaryngology Head and Neck Surgery, 2014
Objective: To report a case of vertebrobasilar dolichoectasia presenting with ipsilateral facial nerve paresis and concomitant severe sensorineural hearing loss.
Mee Ling Tang, Govindaraju Revadi, Raman Rajagopalan, Sushil Brito-Mutunayagam   +3 more
doaj   +1 more source

Targeted Next Generation Sequencing Revealed a Novel Homozygous Loss-of-Function Mutation in ILDR1 Gene Causes Autosomal Recessive Nonsyndromic Sensorineural Hearing Loss in a Chinese Family

Frontiers in Genetics, 2019
Hereditary hearing impairment is one of the major and common birth defects in Chinese population. Non-syndromic sensorineural hearing loss (NSHL) is the most common types of hereditary hearing impairment.
J-X An, Jie-Wen Yang, Yan Wang, Yanxia Wang, Baicheng Xu, Guangmei Xie, Sanming Chai, Xiaoling Liu, Sijuan Xu, Xiaoxia Wen, Qing He, Huijun Liu, Chen Li, S. Dey, Y. Ni, S. Banerjee   +15 more
semanticscholar   +1 more source

Molecular and Cellular Hallmarks of Age‐Related Vestibular Hair Cell Degeneration

Advanced Science, EarlyView.
This study utilizes single‐cell RNA‐seq transcriptomes, advanced imaging, and electrophysiology to examine universal and cell‐type‐specific aging signatures of vestibular hair cells. The study shows that impaired hair bundle function is a key driver of age‐related vestibular dysfunction.
Samadhi Kulasooriya, Huizhan Liu, Sarath Vijayakumar, Celia Bloom, Zhenhang Xu, Shu Tu, Benjamin J. Borgmeier, Mi Zhou, Litao Tao, Bechara Kachar, David Z. He   +10 more
wiley   +1 more source

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

Sudden Sensorineural Hearing Loss in a Patient with COVID-19: A Case Report

Journal of Kerman University of Medical Sciences, 2023
Background: Several viral infections may lead to hearing loss. It›s still unknown whether COVID-19 has effects on the auditory system or not. In this regard, to evaluate the possibility of sudden sensorineural hearing loss due to COVID-19, this study ...
Maryam Delphi, Maryam Kardouni
doaj   +1 more source