Results 141 to 150 of about 172,482 (315)

Mucosal melanocytic lesion in the middle ear extending to the inner ear and nasopharynx

Ear, Nose & Throat Journal
Benign dendritic melanocytic proliferation is usually observed in the skin. We report an extremely rare case of a melanocytic lesion in the middle ear mucosa. Only 3 cases of melanocytic lesions in the middle ear have been reported.
Khalid Suwayyid Alomar MD, Yazeed Ali Al-shawi MD, Farid Alzhrani MD   +2 more
doaj   +1 more source

Preventing and treating ear infections [PDF]

Is your child\u2019s ear hurting? It could be an ear infection. Children are more likely than adults to get ear infections. Talk to your child\u2019s doctor about the best treatment.Some ear infections, such as middle ear infections, need antibiotic ...

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Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Base of Endoscopic Ear Surgery

Endoscopic ear surgery is developing rapidly. This article aimed to review the rationale with advantages and disadvantages of endoscopic ear surgery compared to microscopic ear surgery as well as the current indications in the field of otology and ...
Camille Levie, Patrick Levie
core   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

ENDOSCOPIC TYPMPANOMASTOID EXPLORATION [FUNCTIONAL ENDOSCOPIC EAR SURGERY-FEES]

, 2012
Tympano mastoidectomy is usually performed using operating microscope. This study reports a case series of tympanomastoidectomy which was performed using an endoscope.Endoscopic Tympanomastoidectomy for atticoantral type of CSOM is an excellent technique 
Ramamoorthy, Muthukumar; Stanley Medical College, Thiagarajan, Balasubramanian; Stanley Medical College, Kumar, Sanjay; Stanley Medical College   +2 more
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Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

The effect of zoledronic acid on middle ear osteoporosis: An animal study

, 2018
PubMedID: 30481855Hearing function in older patients may be related to bone structure. We conducted an experiment to evaluate the effect of zoledronic acid on osteoporotic middle ear ossicles in an animal model.
Tarkan O., Surmelioglu O., Aydogan F.K., Tuncer U., Uguz A., Ozdemir S., Aydogan L.B.   +6 more
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