Results 141 to 150 of about 155,773 (264)

Extraskeletal Chondroma in the Middle Ear: A Case Report. [PDF]

Cureus
Hyakusoku H, Inagi T, Yamazaki A, Goto F, Wasano K.   +4 more
europepmc   +1 more source

Negotiating contested spaces and places: Narratives of social suffering and resistance in racialized Cape Town communities

American Journal of Community Psychology, EarlyView.
Abstract This study employs a schizocartographic approach to explore community narratives of space, memory, and violence in Kraaifontein, Cape Town. Through participants' accounts, ordinary places—gardens, shops, blocks, sports grounds, and streets—emerge as ambivalent geographies where trauma, resilience, and belonging intersect.
Guido Veronese, Chiara Fiscone, Ashraf Kagee   +2 more
wiley   +1 more source

Molecular Characterization of the Middle Ear Microbiome in Pediatric Otitis Media with Effusion: Diagnostic and Clinical Implications. [PDF]

J Clin Med
Szwajkowski M, Szwach J, Shefa S, Karwowska A, Głębocka A, Pazdro-Zastawny K, Dorobisz K.   +6 more
europepmc   +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

Pancoast Syndrome and Middle Ear Mass as the First Manifestation of Small-Cell Lung Carcinoma: A Case Report. [PDF]

Clin Case Rep
Karimoddini M, Behrooznia Z, Baniasad A, Sorouri S, Amirian F.   +4 more
europepmc   +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

Metastastic potential of middle ear neuroendocrine tumours. [PDF]

Acta Otorhinolaryngol Ital
Engel MSD, Hensen EF, Bloemena E, van der Lans RJL, Leemans CR, Smit CF, Jansen J.   +6 more
europepmc   +1 more source

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

The middle ear-nasopharyngeal microbiome axis associated with obstructive Eustachian tube dysfunction in chronic otitis media. [PDF]

mSystems
Chen X, Chen GG, Gong Z, Zhu H, Liang Z, Chan JYK, Tong MCF, Chen Z, Chang WT.   +8 more
europepmc   +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