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The history of Jervell and Lange-Nielsen syndrome.
Tidsskr Nor Laegeforen
December 2024
Institutt for helse og samfunn, Universitetet i Oslo.
Background: First-time documentation of rare diseases is normally in the form of case reports. These are typically based on unexpected observations by vigilant clinicians and lead to further research on prevalence and aetiology. One of the best-known Norwegian examples is Jervell and Lange-Nielsen syndrome.
View Article and Find Full Text PDFCochlear implantation in syndromic patients: difficulties and lessons learnt.
Eur Arch Otorhinolaryngol
January 2025
Otorhinolaryngology Department Faculty of Medicine, Ain Shams University, Ramses Street, Abasseyia Square, Cairo, 11566, Egypt.
Article Synopsis
- The study aimed to evaluate the prevalence of syndromes among children receiving cochlear implants, focusing on inner and middle ear malformations, as well as the surgical challenges faced.
- Out of 1024 children studied, 4.3% were diagnosed with syndromes, with Jervell and Lange Nielsen syndrome and Waardenberg syndrome being the most common, and most cases showing no inner ear malformations.
- Despite some inner and middle ear anomalies noted during surgery, the overall outcomes for syndromic patients were comparable to those without syndromes, emphasizing the need for individualized assessments in managing hearing loss.
Left cardiac sympathetic denervation in children with Jervell Lange-Nielsen syndrome and drug refractory torsades - A case series.
Pacing Clin Electrophysiol
October 2023
Department of Cardiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, India.
Introduction: Long QT syndrome is an inherited malignant channelopathy which leads to life-threatening arrhythmia, with multiple genotypes. Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive subtype of this disease, characterized by congenital sensorineural deafness and a high incidence of sudden cardiac death (SCD).
Methodology: We prospectively followed up six children who underwent left cardiac sympathetic denervation (LCSD) for JLNS in view of high-risk features despite being on maximally tolerated doses of oral propranolol.
Novel combinations of variations in KCNQ1 were associated with patients with long QT syndrome or Jervell and Lange-Nielsen syndrome.
BMC Cardiovasc Disord
August 2023
Department of Cardiology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, 310009, Zhejiang, China.
Article Synopsis
- Long QT syndrome (LQTS) is a significant cause of sudden cardiac death in young people, often linked to mutations in ion channel genes, but specific familial causes remain unclear.
- The study analyzed three Chinese families with LQTS and Jervell and Lange-Nielsen syndrome (JLNS) using whole exome sequencing and found various genetic mutations related to these conditions.
- The research identified five variants in the KCNQ1 gene affecting cardiac rhythm and hearing; it also highlighted the importance of genetic testing for better diagnosis and personalized treatment approaches for patients.
New KCNQ1 c.604+1G>C variant associated with Jervell-Lange Nielsen syndrome in homozygosity and compound heterozygosity.
Rev Esp Cardiol (Engl Ed)
June 2022
Instituto de Biomedicina de Sevilla (IBiS), HUVR/CSIC/Departamento de Fisiología Médica y Biofísica, Universidad de Sevilla, Sevilla, Spain. Electronic address:
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