Results 11 to 20 of about 31,332 (279)

Seizure, Deafness, and Renal Failure: A Case of Barakat Syndrome [PDF]

Case Reports in Nephrology, 2013
Barakat syndrome (also known as HDR syndrome) is an autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease caused by mutation of the GATA3 gene located at chromosome 10p15.
Nasrollah Maleki, Bahman Bashardoust, Manouchehr Iranparvar Alamdari, Zahra Tavosi   +3 more
doaj   +3 more sources

Labyrinthitis Ossificans Associated with Sensorineural Deafness [PDF]

Ear, Nose & Throat Journal, 2005
Henriëtte E. Westerlaan, Linda C. Meiners, Lourens Penning   +2 more
openalex   +3 more sources

Developmental window of sensorineural deafness in biotinidase-deficient mice. [PDF]

J Inherit Metab Dis, 2017
Maheras KJ, Pindolia K, Wolf B, Gow A.
europepmc   +3 more sources

Dystonia deafness syndrome: A rare deep brain stimulation responsive dystonia

Annals of Indian Academy of Neurology, 2023
Dystonia deafness syndrome (DDS) is a rare syndrome characterized by childhood onset sensorineural deafness followed by adult-onset dystonia. We here report the first case of DDS from India caused by ACTB gene mutation presented with deafness ...
Sruthi Kola, Rukmini Mridula Kandadai, Mansi Kashyap, Sai Deepak, V VSR K Prasad, Rajesh Alugolu, Rupam Borgohain   +6 more
doaj   +1 more source

Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a mutation [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2015
Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome is an autosomal dominant disease caused by mutations in the GATA3 gene on chromosome 10p15.
Yong Suk Shim, Woohyeok Choi, Il Tae Hwang, Seung Yang   +3 more
doaj   +1 more source

Deafness gene screening based on a multilevel cascaded BPNN model

BMC Bioinformatics, 2023
Sudden sensorineural hearing loss is a common and frequently occurring condition in otolaryngology. Existing studies have shown that sudden sensorineural hearing loss is closely associated with mutations in genes for inherited deafness. To identify these
Xiao Liu, Li Teng, Wenqi Zuo, Shixun Zhong, Yuqiao Xu, Jing Sun   +5 more
doaj   +1 more source

Living‐donor kidney transplantation for a patient with hypoparathyroidism, deafness, and renal dysplasia syndrome

IJU Case Reports, 2020
Introduction Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome is an autosomal dominant rare genetic disease. Some patients with hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome may present with renal ...
Nobutaka Nishimura, Shunta Hori, Chihiro Omori, Makito Miyake, Satoshi Anai, Kazumasa Torimoto, Katsuya Aoki, Nobumichi Tanaka, Tatsuo Yoneda, Kiyohide Fujimoto   +9 more
doaj   +1 more source

Adjuvant Migraine Medications in the Treatment of Sudden Sensorineural Hearing Loss. [PDF]

, 2021
Objectives/hypothesisTo examine the hearing outcomes of patients with sudden sensorineural hearing loss (SSNHL) treated with oral and intratympanic (IT) steroid only or a combination of steroid and migraine treatment.
Abouzari, Mehdi, Chua, Janice T, Djalilian, Hamid R, Goshtasbi, Khodayar, Lin, Harrison W, Saber, Tina, Sarna, Brooke, Tan, Donald   +7 more
core   +1 more source

Brainstem auditory evoked responses in an equine patient population: part I--adult horses. [PDF]

, 2014
BackgroundBrainstem auditory evoked response has been an underused diagnostic modality in horses as evidenced by few reports on the subject.Hypothesis/objectivesTo describe BAER findings, common clinical signs, and causes of hearing loss in adult horses ...
Aleman, M, Holliday, TA, Nieto, JE, Williams, DC   +3 more
core   +1 more source

Prediction of hearing recovery in sudden deafness treated with intratympanic steroids [PDF]

, 2018
The present study aims to obtain a probability model allowing the prediction of the auditory recovery in patients affected by sudden sensorineural hearing loss treated exclusively with intratympanic steroids.
Attanasio, G., Cagnoni, L., De Vincentiis, M., Di Porto, E., Greco, A., Masci, E., Ralli, M., RUSSO, FRANCESCA YOSHIE   +7 more
core   +1 more source