Results 121 to 130 of about 30,564 (313)

Case report: a case of hypoparathyroidism–sensorineural deafness–renal dysplasia syndrome

Frontiers in Genetics
This article reports a case of a young woman who was admitted to the hospital with “sudden convulsions for 3 h.” She was diagnosed with hypoparathyroidism and found to have sensorineural deafness and left renal agenesis. A diagnosis of hypoparathyroidism–
Jinyan Yang, Yanjie Mei, Feifei Tang, Xinhong Guo, Yanhua Kong, Ying Deng   +5 more
doaj   +1 more source

Foramina Parietalia Permagna Syndrome

Pediatric Neurology Briefs, 1998
A boy, born with a soft cranium, had symmetrical defects in the parietal bones, small head, triangular face, micrognathia, small mouth, downslanted palpebral fissures, arched eyebrows, short webbed neck, branchial fistulae, and sensorineural deafness.
J Gordon Millichap
doaj   +1 more source

Long‐Term Outcomes of Adult Temporal Bone Fractures With Hearing Loss: Results of a Multinational Database Analysis

The Laryngoscope, EarlyView.
This study uses a large multinational database to examine long‐term outcomes of adult temporal bone fractures. The risk for meningitis, labyrinthitis, facial nerve disorders, and cerebrospinal fluid leaks was elevated after fracture. Cochlear implantation was also more likely after temporal bone fracture.
Jason L. Steele, Heather J. Smith, Samira Takkoush, Jumah G. Ahmad, Zachary D. Urdang, Neil S. Patel, Richard K. Gurgel, Mana Espahbodi   +7 more
wiley   +1 more source

The emerging role of the inwardly rectifying K+ channels in autism spectrum disorders and epilepsy [PDF]

, 2011
Autism is a complex behavioral disorder that develops prior to age three years and is distinguished by high heritability. Many genes predisposing to autism spectrum disorders (ASDs) have been identified.
D’Adamo, Maria Cristina, Imbrici, Paola, Martino, Dianda, Moro, Francesca, Pessia, Mauro, Roscini, Mauro, Santorelli, Filippo Maria, Sicca, Federico   +7 more
core  

Sensorineural deafness in purebred white Devon Rex cats

Journal of Veterinary Internal Medicine
Background Data regarding congenital sensorineural deafness (CSD) in client‐owned, white Devon Rex cats is limited because most of the information on this disease comes from experiments on mixed‐breed cats.
Annemarie Kortas, Andrzej Pomianowski, Malgorzata Kolecka, Liliana Rytel   +3 more
doaj   +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

Systematic Review of Quality of Life in Bone Anchored Hearing: Conductive vs. Unilateral Sensorineural Hearing Loss

The Laryngoscope, EarlyView.
The literature demonstrates that bone‐anchored hearing implants have a positive impact on auditory performance and quality of life (QoL), but these outcomes may not always correlate. This systematic review analyzed 56 articles to identify discrepancies in self‐reported, disease‐specific QoL benefits among patients with either unilateral sensorineural ...
Karina Théorêt, Jiahao Deng, Sabrina Daniela da Silva, Elena Guadagno, Sam J. Daniel   +4 more
wiley   +1 more source

Genetics update: monogenetics, polygene disorders and the quest for modifying genes [PDF]

, 2018
The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships.
Symonds, Joseph D., Zuberi, Sameer M.
core   +1 more source

Dental Treatments under the General Anesthesia in a Child with Keratitis, Ichthyosis, and Deafness Syndrome

Case Reports in Dentistry, 2013
KID syndrome is a rare genodermatosis characterized by keratitis, ichthyosis, and sensorineural deafness. Although the dermatological, ophthalmologic, and sensorineural defects are emphasized in the literature, oral and dental evaluations are so ...
Sera Sımsek Derelioglu, Yücel Yılmaz, Sultan Keles   +2 more
doaj   +1 more source

Long‐Term Cochlear Implant Sensitivity in Patients With Far Advanced Otosclerosis

The Laryngoscope, EarlyView.
This study aimed to evaluate mid‐ and long‐term cochlear implant fitting in otosclerosis patients compared to a control group. It suggested significant tissue remodeling at the cochlear apex in otosclerosis patients, likely increasing resistance to electrical currents delivered by the implant.
Raphaële Quatre, Åsa Bonnard, Jeremy Wales, Martin Eklöf   +3 more
wiley   +1 more source