Results 11 to 20 of about 47,447 (116)

Enlarged vestibular aqueduct and Mondini Malformation: audiological, clinical, radiologic and genetic features. [PDF]

Eur Arch Otorhinolaryngol, 2021
Purpose: When referring to enlarged vestibular aqueduct (EVA) we should differentiate between nonsyndromic enlarged vestibular aqueduct (NSEVA) and Pendred Syndrome (PDS), a disease continuum associated with pathogenic sequence variants of Pendrin’s Gene
Forli F, Lazzerini F, Auletta G, Bruschini L, Berrettini S.   +4 more
europepmc   +2 more sources

Abnormalities of the Facial Nerve in Temporal Bones With Inner Ear Malformations. [PDF]

Laryngoscope Investig Otolaryngol
This study investigates the abnormalities of the facial nerve in temporal bones with inner ear malformations (IEMFs), using histopathological evaluations from 28 human temporal bone specimens. It reveals a high prevalence of facial nerve hypoplasia, narrow facial recess, and aberrant nerve positioning, highlighting the surgical challenges these ...
Shimura T, Alp J, Keskin Yilmaz N, Koerig Schuster A, Rajan D, Paparella MM, Cureoglu S, da Costa Monsanto R.   +7 more
europepmc   +2 more sources

Concomitant Mutations in the Thyroglobulin and SLC26A4 Genes Leading to Fetal Goiter and Congenital Hypothyroidism in a Patient With Pendred Syndrome. [PDF]

Case Rep Endocrinol
We described new forms of thyroglobulin gene (TG) mutation resulting in fetal goiter and congenital hypothyroidism in a pendred syndrome (PS) patient. Fetal hypothyroidism was diagnosed, based on ultrasonographic evidence of goiter alongside with fetal blood measurement of TSH (>100 mIU/L); levothyroxine intrauterine treatment was performed.
Calcaterra V, Lanna M, Ligato E, Dolci A, Laoreti A, Daniele I, Cattaneo E, Lista G, Savasi V, Zuccotti G.   +9 more
europepmc   +2 more sources

The Relationship Between Daily Device Use and Subjective Hearing Abilities in Pediatric Cochlear Implant Users. [PDF]

Otolaryngol Head Neck Surg
Abstract Objective Increased hours of cochlear implant (CI) use have been shown to improve auditory and speech recognition outcomes in children with hearing loss. However, the impact of hours of CI use over time on patient‐reported functional hearing skills is unknown.
Magee L, Thapliyal M, Warner-Czyz AD, Anne S.   +3 more
europepmc   +2 more sources

A Bioinspired Plasmonic Nanocomposite Actuator Sunlight‐Driven by a Photothermal‐Hygroscopic Effect for Sustainable Soft Robotics

Advanced Materials Technologies, Volume 8, Issue 14, July 24, 2023., 2023
This article reports the design and fabrication of a plasmonic photothermal‐hygroscopic actuator integrated with printed cellulose tracks (bioinspired by Geraniaceae seeds) and actuated by sunlight power density (1 Sun= 100 mW cm−2). The plasmonic nanocomposite actuator can be used for multiple tasks, as hinted through illustrative soft robotics ...
Stefano Mariani, Luca Cecchini, Alessio Mondini, Emanuela Del Dottore, Marilena Ronzan, Carlo Filippeschi, Nicola Maria Pugno, Edoardo Sinibaldi, Barbara Mazzolai   +8 more
wiley   +1 more source

Tiga Kasus Implan Koklea pada Displasia Mondini [PDF]

, 2019
Mondini dysplasia is a kind of cochlear malformation caused by a failure growth of cochlea in the seventh week of pregnancy, results in cochlear turn which only reaches 1,5 turn until less than 2,5 turn.
Artono, Artono, Utama, Muhammad Arif Sudianto   +1 more
core   +1 more source

Preschoolers rely on rich speech representations to process variable speech

Child Development, Volume 94, Issue 4, Page e197-e214, July/August 2023., 2023
Abstract To learn language, children must map variable input to categories such as phones and words. How do children process variation and distinguish between variable pronunciations (“shoup” for soup) versus new words? The unique sensory experience of children with cochlear implants, who learn speech through their device's degraded signal, lends new ...
Margaret Cychosz, Tristan Mahr, Benjamin Munson, Rochelle Newman, Jan R. Edwards   +4 more
wiley   +1 more source

Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct

Journal of Translational Medicine, 2011
Background Mutations in SLC26A4 cause Pendred syndrome (hearing loss with goiter) or DFNB4 (non-syndromic hearing loss with inner ear malformation, such as enlarged vestibular aqueduct or Mondini deformity).
Yan Xiaofei, Zhang Xin, Kang Dongyang, Wang Guojian, Yuan Yongyi, Han Dongyi, Huang Shasha, Meng Xiaoxiao, Dong Min, Dai Pu   +9 more
doaj   +1 more source

Estudo por tc de 17 casos de anomalia congénita coclear. Tentativa de relação embriológica e anátomo-funcional.

Acta Médica Portuguesa, 1993
In this review of cochlear malformations, 17 cases were studied by CT scan (high resolution-target program) including 10 males and 7 females. The anomaly was bilateral in 12 cases and unilateral in 7 (the latter included 2 Mondini type aplasias and one ...
J C Maurício, L Biscoito, G Branco
doaj   +1 more source

Molecular Etiology of Hearing Impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis

Journal of Translational Medicine, 2008
Background The molecular etiology of hearing impairment in Chinese has not been thoroughly investigated. Study of GJB2 gene revealed that 30.4% of the patients with hearing loss in Inner Mongolia carried GJB2 mutations.
Wu Bailin, Yuan Huijun, Kang Dongyang, Yu Fei, Zhu Xiuhui, Huang Deliang, Yuan Yongyi, Dai Pu, Han Dongyi, Wong Lee-Jun C   +9 more
doaj   +1 more source