Speech Perception and Production in Cochlear Implant Recipients with Pendred Syndrome [PDF]
Balkan Medical Journal, 2021 Aims: Patients with the Pendred syndrome suffer very often from a hearing loss. They may be good candidates for a cochlear implantation, but unfortunately, due to the fluctuating character of the hearing loss, they may escape such indication.
Jiri Skrivan +6 more
doaj +3 more sources
MON-384 "Beyond the Silence”: A Pendred Syndrome Case [PDF]
J Endocr SocDisclosure: A.M. Aviles Melendez: None. O. Onwudiwe: None. K. Win: None. Pendred syndrome is a rare autosomal recessive disorder, seen in 7.5-10 per 100,000 people, with biallelic inactivating mutations on SLC26A4/PDS gene on chromosome 7q22.3, which ...
A. M. Aviles Melendez +2 more
europepmc +3 more sources
Estimating the concentration of therapeutic range using disease-specific iPS cells: Low-dose rapamycin therapy for Pendred syndrome [PDF]
Regenerative Therapy, 2019 Introduction: Pendred syndrome is an autosomal-recessive disease characterized by congenital hearing loss and thyroid goiter. Previously, cell stress susceptibilities were shown to increase in patient-derived cells with intracellular aggregation using an
Makoto Hosoya +6 more
doaj +3 more sources
Pendred syndrome with hyperthyroidism. [PDF]
J Rural Med, 2020 Objectives: Pendred syndrome is an autosomal recessive disorder characterized by the combination of sensorineural deafness and goiter and is caused by biallelic mutations in the SLC26A4/PDS gene.
Kusano Y.
europepmc +5 more sources
The Unusual Case of a Rapidly Enlarging Thyroid Gland in a Patient With Pendred Syndrome [PDF]
J Endocr Soc, 2021 Pendred syndrome is a genetic condition that is characterized by sensorineural hearing loss, abnormalities of the vestibular system, and goiter. In patients with Pendred syndrome, goiter tends to develop in late childhood or early adulthood and the ...
Maler N, Levin E.
europepmc +4 more sources
Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family. [PDF]
Orphanet J Rare Dis, 2017 List of PCR primers used.
Chow YP +6 more
europepmc +6 more sources
Hoffmann's Syndrome Secondary to Pendred Syndrome: A Rare Case. [PDF]
Cureus, 2019 Hoffmann’s syndrome (HS) is a rare manifestation of hypothyroidism myopathy that presents with weakness, stiffness, and eventually pseudohypertrophy of muscles, especially calf muscles.
Tahir F +4 more
europepmc +4 more sources
Congenital chloride diarrhea and Pendred syndrome: case report of siblings with two rare recessive disorders of SLC26 family genes [PDF]
BMC Medical Genetics, 2020 Background Congenital chloride diarrhea (CLD; OMIM 214700) is a rare autosomal recessive disorder caused by pathogenic variations in the solute carrier family 26 member A3 (SLC26A3) gene.
Eva Lindberg +4 more
doaj +3 more sources
Cochlear implantation in children with enlarged vestibular aqueduct (EVA): relationship to Pendred syndrome diagnosis, surgical outcomes, and radiological findings [PDF]
Journal of hearing science, 2023 The cochlear implant (CI) procedure in patients with inner ear malformations is challenging. The aim of this study was to evaluate auditory perception and speech development in children with enlarged vestibular aqueduct (EVA) and to relate the results to
Agnieszka Remjasz-Jurek +3 more
semanticscholar +2 more sources
Investigation of GJB2 and SLC26A4 genes related to pendred syndrome genetic deafness patients [PDF]
Cellular, Molecular and Biomedical Reports, 2023 Deafness can occur due to damage to the ear, especially the inner ear. In other cases, the cause is a heterogeneous genetic abnormality and is caused by the changes that occur in the genes involved in the hearing process.
Haider Majid Haider Al-Zaidi +5 more
doaj +2 more sources