Results 11 to 20 of about 32,493 (280)

Antenatal Bartter′s syndrome with sensorineural deafness

Indian Journal of Nephrology, 2009
Bartter's syndrome is a group of inherited, salt-losing tubulopathies presenting as metabolic alkalosis with normotensive hyperreninemia and hyperaldosteronism. We report here the first case of a neonate with bilateral, sensorineural deafness, a variant of antenatal Bartter's syndrome from an Indian community.
A Gajendragadkar, RP Bhamkar
openaire   +4 more sources

Sensorineural Deafness and Pigmentation Genes [PDF]

Neuron, 2001
However, before we can even begin to consider the Mitf and its interacting signaling cascades as targets for potential therapeutics, there are still many questions that remain to be answered. An essential remaining goal is the identification of Mitf transcriptional targets in the contexts of its specific physiologic activities, such as modulation of ...
David E. Fisher, E. Roydon Price
openaire   +5 more sources

Sympathetic ophthalmia with sensorineural deafness - report of a case [PDF]

Journal of Ophthalmic Inflammation and Infection, 2013
The aim of this study is to report a case of sympathetic ophthalmia with sensorineural hearing loss following penetrating trauma. This is an interventional case report. A 23-year-old male presented with bilateral, sudden, profound visual and hearing loss, disorientation, and dizziness. He had a past history of penetrating trauma with an iron rod in the
Meha Kantha, Ramesh Venkatesh, Jyotirmay Biswas, Shalini Singh, Manisha Agarwal, Vidya Janaki Ramesh   +5 more
openaire   +4 more sources

Labyrinthitis Ossificans Associated with Sensorineural Deafness [PDF]

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

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

Transient evoked otoacoustic emissions testing for screening of sensorineural deafness in puppies [PDF]

, 2011
<p><b>Background:</b> Transient evoked otoacoustic emissions (TEOAE) are widely used for human neonatal deafness screening, but have not been reported for clinical use in dogs.</p> <p><b>Hypothesis/Objectives:< ...
Ahlstrom, Branis, De Capua, Doyle, Famula, Hall, Igarashi, Kemp, Korres, Lonsbury-Martin, Lonsbury-Martin, Lurie, Maxon, Platt, Rhodes, Schemera, Sims, Sockalingam, Strain, Strain, Strain, Strain, Ter Haar, Wilkes, Wilson, Wood   +25 more
core   +1 more source

Barakat syndrome diagnosed decades after initial presentation

Endocrinology, Diabetes & Metabolism Case Reports, 2023
Barakat syndrome, also called HDR syndrome, is a rare genetic disorder encompassing hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).
Umberto Spennato, Jennifer Siegwart, Britta Hartmann, Elisabeth Julia Fischer, Cecilia Bracco, Joel Capraro, Beat Mueller, Philipp Schuetz, Andreas Werner Jehle, Tristan Struja   +9 more
doaj   +1 more source

Bone conductive implants in single sided deafness [PDF]

, 2015
Conclusion: The Bone Conductive Implants (BCI) showed to partly restore some of the functions lost when the binaural hearing is missing, such as in the single-sided deafness (SSD) subjects.
ATTURO, FRANCESCA, BARBARA, Maurizio, FILIPPI, CHIARA, MONINI, Simonetta, musy, isotta   +4 more
core   +1 more source