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Page 1
Jervell and Lange-Nielsen syndrome in cochlear implanted patients: our experience and a review of literature.
Eftekharian A, Mahani MH. Eftekharian A, et al. Int J Pediatr Otorhinolaryngol. 2015 Sep;79(9):1544-7. doi: 10.1016/j.ijporl.2015.07.012. Epub 2015 Jul 14. Int J Pediatr Otorhinolaryngol. 2015. PMID: 26205899 Review.
OBJECTIVES: To share our experience in cochlear implanted patients with Jervell and Lange-Nielsen syndrome (JLNS), to review the literature results and to disclose precautions which have to be taken dealing with these patients. ...RESULTS: The prevalen …
OBJECTIVES: To share our experience in cochlear implanted patients with Jervell and Lange-Nielsen syndrome (JLNS …
[Hereditary hearing loss].
Tropitzsch A, Schade-Mann T, Gamerdinger P. Tropitzsch A, et al. HNO. 2023 Feb;71(2):131-142. doi: 10.1007/s00106-022-01254-x. Epub 2022 Dec 16. HNO. 2023. PMID: 36526931 Review. German.
This review article explains the classification of genetic hearing loss into syndromic versus non-syndromic forms and the modes of inheritance involved. Some of the most common syndromes (Usher, Pendred, Jervell-Lange-Nielsen, Waardenburg, branchiootorenal, a …
This review article explains the classification of genetic hearing loss into syndromic versus non-syndromic forms and the modes of inheritan …
Genetics of long-QT syndrome.
Nakano Y, Shimizu W. Nakano Y, et al. J Hum Genet. 2016 Jan;61(1):51-5. doi: 10.1038/jhg.2015.74. Epub 2015 Jun 25. J Hum Genet. 2016. PMID: 26108145 Review.
Congenital long QT syndrome (LQTS) is an inherited arrhythmia syndrome characterized by a prolonged QT interval in the 12-lead ECG, torsades de pointes and not negligible prevalence of sudden cardiac death. ...A total of 15 genes have been reported for autosomal-dom …
Congenital long QT syndrome (LQTS) is an inherited arrhythmia syndrome characterized by a prolonged QT interval in the 12-lead …
The genetics of deafness.
Nance WE. Nance WE. Ment Retard Dev Disabil Res Rev. 2003;9(2):109-19. doi: 10.1002/mrdd.10067. Ment Retard Dev Disabil Res Rev. 2003. PMID: 12784229 Review.
Congenital long QT syndrome.
Crotti L, Celano G, Dagradi F, Schwartz PJ. Crotti L, et al. Orphanet J Rare Dis. 2008 Jul 7;3:18. doi: 10.1186/1750-1172-3-18. Orphanet J Rare Dis. 2008. PMID: 18606002 Free PMC article. Review.
Congenital long QT syndrome (LQTS) is a hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias. ...However, there are a few exceptions: patients with Timothy syndrome, patients wi …
Congenital long QT syndrome (LQTS) is a hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG an …
An overview of hereditary hearing loss.
Bayazit YA, Yilmaz M. Bayazit YA, et al. ORL J Otorhinolaryngol Relat Spec. 2006;68(2):57-63. doi: 10.1159/000091090. Epub 2006 Jan 20. ORL J Otorhinolaryngol Relat Spec. 2006. PMID: 16428895 Free article. Review.
In this review, after a brief explanation of some genetic terms (allele, heterozygosis, homozygosis, polymorphism, genotype and phenotype), classification of genetic hearing loss (syndromic versus nonsyndromic, and recessive dominant, X-linked and mitochondrial) was performed. So …
In this review, after a brief explanation of some genetic terms (allele, heterozygosis, homozygosis, polymorphism, genotype and phenotype), …
Prolonged QT syndrome in children: an uncommon but potentially fatal entity.
Friedman MJ, Mull CC, Sharieff GQ, Tsarouhas N. Friedman MJ, et al. J Emerg Med. 2003 Feb;24(2):173-9. doi: 10.1016/s0736-4679(02)00721-7. J Emerg Med. 2003. PMID: 12609648 Review.
Prolonged QT syndrome may be either congenital, as in Jervell and Lange-Nielsen or Romano-Ward syndromes, or acquired in nature. Affected children are at risk for syncope, seizures, dysrhythmias and sudden death. Physicians should consider long QT s …
Prolonged QT syndrome may be either congenital, as in Jervell and Lange-Nielsen or Romano-Ward syndromes, or acq …
[Arrhythmia and genetic background].
Chinushi M, Sato A. Chinushi M, et al. Rinsho Byori. 2013 Feb;61(2):150-8. Rinsho Byori. 2013. PMID: 23672093 Review. Japanese.
Premature ventricular beats triggered due to early after-depolarization infringe on the large spatial dispersion of ventricular repolarization and initiate polymorphic ventricular tachycardia with a specific form (torsade de pointes). Currently, thirteen genotypes in Romano-Ward …
Premature ventricular beats triggered due to early after-depolarization infringe on the large spatial dispersion of ventricular repolarizati …
[The genetic disorders responsible for sudden cardiac death].
Harada T, Nagai R. Harada T, et al. Nihon Rinsho. 2005 Jul;63(7):1273-83. Nihon Rinsho. 2005. PMID: 16001794 Review. Japanese.
Recent genetic analyses have identified congenital diseases such as the long-QT syndrome (LQTS), the Jervell and Lange-Nielsen syndrome (JLNS), the Brugada syndrome (BrS), the short-QT syndrome (SQTS), the arrhythmogenic right vent …
Recent genetic analyses have identified congenital diseases such as the long-QT syndrome (LQTS), the Jervell and Lange- …
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