Surgical complications following cochlear implantation in adults based on a proposed reporting consensus [PDF]
, 2013 CONCLUSION: The rate of severe complications was low and cochlear implantation is a relatively safe procedure. Standardization is crucial when reporting on cochlear implant complications to ensure comparability between studies.
Faber, Christian Emil, Jeppesen, Jonas
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Familial pattern of large vestibular aqueduct syndrome in a Chinese family [PDF]
, 2013 Large Vestibular Aqueduct Syndrome (LVAS) is the most common radiographic malformation in children with early onset of hearing loss. Usually its occurrence is non-familial, however intriguingly a portion of patients with LVAS is found to have evidence ...
Ab Aziz, A, Asma, A, Hazmi, M
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Birth characteristics and childhood carcinomas [PDF]
, 2011 BACKGROUND: Carcinomas in children are rare and have not been well studied. METHODS: We conducted a population-based case–control study and examined associations between birth characteristics and childhood carcinomas diagnosed from 28 days to 14 years ...
Carozza, Susan E +10 more
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Influence of melanin and macrophage activation on hearing loss in SLC26A4 deficient mice.
Neurobiology of DiseaseHearing loss associated with SLC26A4 mutations exhibits diverse phenotypes, including congenital, acquired, progressive, and fluctuating impairments. This study investigates how pigmentation influences auditory dysfunction and immune responses in the ...
Natsuki Aoki +7 more
doaj +1 more source
Acidosis and Deafness in Patients with Recessive Mutations in FOXI1 [PDF]
, 2018 Maintenance of the composition of inner ear fluid and regulation of electrolytes and acid-base homeostasis in the collecting duct system of the kidney require an overlapping set of membrane transport proteins regulated by the forkhead transcription ...
Alkanderi, S +17 more
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Mutation screening of the thyroid peroxidase gene in a cohort of 55 Portuguese patients with congenital hypothyroidism. [PDF]
, 2005 Defects in the human thyroid peroxidase (TPO) gene are reported to be one of the causes of congenital hypothyroidism (CH) due to a total iodide organification defect.
Jorge, Paula +7 more
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Female Siblings with Pendred's Syndrome.
Internal Medicine, 1994 Female siblings with Pendred's syndrome were admitted to our clinic. The abnormality of the acoustic structure was examined by MRI. Bilateral enlargement of the vestibular aqueduct and a prominently marked endolymphatic sac were found on MRI. These findings seemed likely to represent a Mondini deformity.
O, Nakagawa +6 more
openaire +3 more sources
Universal newborn hearing screening in the Lazio region, Italy [PDF]
, 2018 Background: The introduction of Universal Newborn Hearing Screening (UNHS) programs has drastically contributed to the early diagnosis of hearing loss in children, allowing prompt intervention with significant results on speech and language development ...
Cammeresi, Maria Gloria +11 more
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Genetic variation affecting exon skipping contributes to brain structural atrophy in Alzheimer's disease [PDF]
, 2018 Genetic variation in cis-regulatory elements related to splicing machinery and splicing regulatory elements (SREs) results in exon skipping and undesired protein products.
Alzheimer’s Disease Neuroimaging Initiative +8 more
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Glycosylation in the thyroid gland : vital aspects of glycoprotein function in thyrocyte physiology and thyroid disorders [PDF]
, 2018 The key proteins responsible for hormone synthesis in the thyroid are glycosylated. Oligosaccharides strongly affect the function of glycosylated proteins.
Ewa Pocheć +2 more
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