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HASHIMOTO THYROIDITIS AND VESTIBULAR DYSFUNCTION.
Chiarella G, Russo D, Monzani F, Petrolo C, Fattori B, Pasqualetti G, Cassandro E, Costante G. Chiarella G, et al. Endocr Pract. 2017 Jul;23(7):863-868. doi: 10.4158/EP161635.RA. Epub 2017 May 23. Endocr Pract. 2017. PMID: 28534686 Review.
In recent years, two well-designed prospective studies have provided convincing evidence that the association is not random. One article reported that patients with Meniere disease (MD) had a significantly higher prevalence of positive anti-thyroid autoantibody as compared …
In recent years, two well-designed prospective studies have provided convincing evidence that the association is not random. One arti …
An unfortunate case of Pendred syndrome.
Sanei-Moghaddam A, Wilson T, Kumar S, Gray R. Sanei-Moghaddam A, et al. J Laryngol Otol. 2011 Sep;125(9):965-7. doi: 10.1017/S0022215111001630. Epub 2011 Jul 12. J Laryngol Otol. 2011. PMID: 21745434 Review.
METHOD: Case report and review of the English language literature concerning Pendred syndrome and cochlear implantation in Pendred syndrome patients. RESULT: Pendred syndrome is an autosomal recessive disorder which mainly affects the inn …
METHOD: Case report and review of the English language literature concerning Pendred syndrome and cochlear implantation in …
Profound hypokalemia and hypochloremic metabolic alkalosis during thiazide therapy in a child with Pendred syndrome.
Pela I, Bigozzi M, Bianchi B. Pela I, et al. Clin Nephrol. 2008 Jun;69(6):450-3. doi: 10.5414/cnp69450. Clin Nephrol. 2008. PMID: 18538122
Pendred syndrome is a recessive autosomal disorder characterized by thyroid goiter and sensorineural hearing loss. ...In subjects with Pendred syndrome thiazide therapy seems to provoke more severe Cl(-) and extracellular volume depletion. ...
Pendred syndrome is a recessive autosomal disorder characterized by thyroid goiter and sensorineural hearing loss. ...In subje …
Causes of hearing loss and implantation age in a cohort of Danish pediatric cochlear implant recipients.
Friis IJ, Aaberg K, Edholm B. Friis IJ, et al. Int J Pediatr Otorhinolaryngol. 2023 Aug;171:111640. doi: 10.1016/j.ijporl.2023.111640. Epub 2023 Jul 1. Int J Pediatr Otorhinolaryngol. 2023. PMID: 37441990
CONCLUSIONS: In the current study, the major causes of HL were alterations in the SLC26A4 gene: 13% with Pendred syndrome and 1% non-syndromic. Thirty-one (31%) had HL of unknown origin and almost half of these cases had inner ear malformations (n = 16)....
CONCLUSIONS: In the current study, the major causes of HL were alterations in the SLC26A4 gene: 13% with Pendred syndrome and …
Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).
Scott DA, Wang R, Kreman TM, Andrews M, McDonald JM, Bishop JR, Smith RJ, Karniski LP, Sheffield VC. Scott DA, et al. Hum Mol Genet. 2000 Jul 1;9(11):1709-15. doi: 10.1093/hmg/9.11.1709. Hum Mol Genet. 2000. PMID: 10861298
The PDS gene encodes a transmembrane protein, known as pendrin, which functions as a transporter of iodide and chloride. Mutations in this gene are responsible for Pendred syndrome and autosomal recessive non-syndromic hearing loss at the DFNB4 locus on chromosome 7 …
The PDS gene encodes a transmembrane protein, known as pendrin, which functions as a transporter of iodide and chloride. Mutations in this g …
A phase I/IIa double blind single institute trial of low dose sirolimus for Pendred syndrome/DFNB4.
Fujioka M, Akiyama T, Hosoya M, Kikuchi K, Fujiki Y, Saito Y, Yoshihama K, Ozawa H, Tsukada K, Nishio SY, Usami SI, Matsunaga T, Hasegawa T, Sato Y, Ogawa K. Fujioka M, et al. Medicine (Baltimore). 2020 May;99(19):e19763. doi: 10.1097/MD.0000000000019763. Medicine (Baltimore). 2020. PMID: 32384426 Free PMC article. Clinical Trial.
INTRODUCTION: Pendred syndrome (PDS)/DFNB 4 is a disorder with fluctuating and progressive hearing loss, vertigo, and thyroid goiter. ...TRIAL REGISTRATION NUMBER: JMA-IIA00361; Pre-results....
INTRODUCTION: Pendred syndrome (PDS)/DFNB 4 is a disorder with fluctuating and progressive hearing loss, vertigo, and thyroid …
Absence of primary hypothyroidism and goiter in Slc26a4 (-/-) mice fed on a low iodine diet.
Calebiro D, Porazzi P, Bonomi M, Lisi S, Grindati A, De Nittis D, Fugazzola L, Marinò M, Bottà G, Persani L. Calebiro D, et al. J Endocrinol Invest. 2011 Sep;34(8):593-8. doi: 10.3275/7262. Epub 2010 Sep 9. J Endocrinol Invest. 2011. PMID: 20834201
BACKGROUND: Mutations in the SLC26A4 gene, coding for the anion transporter pendrin, are responsible for Pendred syndrome, characterized by congenital sensorineural deafness and dyshormonogenic goiter. ...These experimental data, together with those coming from a re …
BACKGROUND: Mutations in the SLC26A4 gene, coding for the anion transporter pendrin, are responsible for Pendred syndrome, cha …
Temporal bone imaging in GJB2 deafness.
Propst EJ, Blaser S, Stockley TL, Harrison RV, Gordon KA, Papsin BC. Propst EJ, et al. Laryngoscope. 2006 Dec;116(12):2178-86. doi: 10.1097/01.mlg.0000244389.68568.a7. Laryngoscope. 2006. PMID: 17146393 Clinical Trial.
We asked whether evaluation of the temporal bone is required in individuals with biallelic GJB2 mutations. STUDY DESIGN: Randomized, blinded, controlled, prospective measurement. METHODS: Blood from 264 pediatric cochlear implant users was analyzed for mutations in the GJB …
We asked whether evaluation of the temporal bone is required in individuals with biallelic GJB2 mutations. STUDY DESIGN: Randomized, …
A pathogenic variant in SLC26A4 is associated with Pendred syndrome in a consanguineous Iranian family.
Pourahmadiyan A, Alipour P, Fattahi N, Kasiri M, Rezaeian F, Taghipour-Sheshdeh A, Mohammadi-Asl J, Tabatabaiefar MA, Hashemzadeh Chaleshtori M. Pourahmadiyan A, et al. Int J Audiol. 2019 Oct;58(10):628-634. doi: 10.1080/14992027.2019.1619945. Epub 2019 Jun 12. Int J Audiol. 2019. PMID: 31187663
Therefore, to determine whether the variant was specifically associated with Pendred Syndrome (PDS) or DFNB4, biochemical analyses, PTA, thyroid scans by Tc99m, perchlorate discharge test and high-resolution CT scan of the temporal bone were carried out on the affec …
Therefore, to determine whether the variant was specifically associated with Pendred Syndrome (PDS) or DFNB4, biochemical anal …
Cochlear implantation in a 10-year old boy with Pendred syndrome and extremely enlarged endolymphatic sacs.
Mikkelsen KS, Tranebjærg L, Mey K. Mikkelsen KS, et al. Cochlear Implants Int. 2019 Mar;20(2):100-103. doi: 10.1080/14670100.2018.1550849. Epub 2018 Nov 28. Cochlear Implants Int. 2019. PMID: 30484383
SLC26A4 mutations are associated with variable degrees of SNHL and enlarged vestibular aqueducts (EVA), identified either as non-syndromic EVA or classic Pendred syndrome; the latter also associated with thyroid dysfunction. ...
SLC26A4 mutations are associated with variable degrees of SNHL and enlarged vestibular aqueducts (EVA), identified either as non-syndromic E …
13 results