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[PMID]: 29037160
[Au] Autor:Uysal F; Turkgenc B; Toksoy G; Bostan OM; Evke E; Uyguner O; Yakicier C; Kayserili H; Cil E; Temel SG
[Ad] Address:Department of Pediatric Cardiology, University of Uludag, School of Medicine, Bursa, Turkey.
[Ti] Title:"Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports".
[So] Source:BMC Med Genet;18(1):114, 2017 Oct 16.
[Is] ISSN:1471-2350
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Jervell and Lange-Nielsen syndrome (JLNS) isa recessive model of long QT syndrome which might also be related to possible hearing loss. Although the syndrome has been demonstrated to be originated from homozygous or compound heterozygous mutations in either the KCNQ1 or KCNE1 genes, additional mutations in other genetic loci should be considered, particularly in malignant course patients. CASE PRESENTATIONS: Three patients were admitted into hospital due to recurrent seizures/syncope, intrauterine and postnatal bradycardia respectively; moreover all three patients had congenital sensorineural hearing-loss. Their electrocardiograms showed markedly prolonged QT interval. Implantable defibrillator was implanted and left cardiac sympathetic denervation was performed due to the progressive disease in case 1. She had countless ventricular fibrillation and appropriate shock while using an implantable defibrillator. The DNA sequencing analysis of the KCNQ1 gene disclosed a homozygous c.728G > A (p.Arg243His) missense mutation in case1. Further targeted next generation sequencing of cardiac panel comprising 68 gene revealed a heterozygous c.1346 T > G (p.Ile449Arg) variant in RYR2 gene and a heterozygous c.809G > A (p.Cys270Tyr) variant in NKX2-5 gene in the same patient. Additional gene alterations in RYR2 and NKX2-5 genes were thought to be responsible for progressive and malignant course of the disease. As a result of DNA sequencing analysis of KCNQ1 and KCNE1 genes, a compound heterozygosity for two mutations had been detected in KCNQ1 gene in case 2: a maternally derived c.477 + 1G > A splice site mutation and a paternally derived c.520C > T (p.Arg174Cys) missense mutation. Sanger sequencing of KCNQ1 and KCNE1 genes displayed a homozygous c.1097G > A (p.Arg366Gln) mutation in KCNQ1 gene in case 3. ß-blocker therapy was initiated to all the index subjects. CONCLUSIONS: Three families of JLNS who presented with long QT and deafness and who carry homozygous, or compound heterozygous mutation in KCNQ1 gene were presented in this report. It was emphasized that broad targeted cardiac panels may be useful to predict the outcome especially in patients with unexplained phenotype-genotype correlation. Clinical presentations and molecular findings will be discussed further to clarify the phenotype genotype associations.
[Mh] MeSH terms primary: Hearing Loss, Sensorineural/congenital
Jervell-Lange Nielsen Syndrome/genetics
KCNQ1 Potassium Channel/genetics
Polymorphism, Single Nucleotide
[Mh] MeSH terms secundary: Adrenergic beta-Antagonists/therapeutic use
Child, Preschool
Electrocardiography
Female
Hearing Loss, Sensorineural/etiology
Heterozygote
High-Throughput Nucleotide Sequencing/methods
Homeobox Protein Nkx-2.5/genetics
Homozygote
Humans
Infant
Jervell-Lange Nielsen Syndrome/diagnosis
Jervell-Lange Nielsen Syndrome/drug therapy
Male
Pedigree
Potassium Channels, Voltage-Gated/genetics
Ryanodine Receptor Calcium Release Channel/genetics
Sequence Analysis, DNA/methods
Turkey
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Adrenergic beta-Antagonists); 0 (Homeobox Protein Nkx-2.5); 0 (KCNE1 protein, human); 0 (KCNQ1 Potassium Channel); 0 (KCNQ1 protein, human); 0 (NKX2-5 protein, human); 0 (Potassium Channels, Voltage-Gated); 0 (RyR2 protein, human); 0 (Ryanodine Receptor Calcium Release Channel)
[Em] Entry month:1710
[Cu] Class update date: 171027
[Lr] Last revision date:171027
[Js] Journal subset:IM
[Da] Date of entry for processing:171018
[St] Status:MEDLINE
[do] DOI:10.1186/s12881-017-0474-8

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[PMID]: 28595573
[Au] Autor:Nishimura M; Ueda M; Ebata R; Utsuno E; Ishii T; Matsushita K; Ohara O; Shimojo N; Kobayashi Y; Nomura F
[Ad] Address:Division of Clinical Genetics, Chiba University Hospital, 1-8-1 Inohana, Chuo-ku, Chiba City, Chiba Prefecture, 260-8670, Japan. ZXA03460@nifty.ne.jp.
[Ti] Title:A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report.
[So] Source:BMC Med Genet;18(1):66, 2017 Jun 08.
[Is] ISSN:1471-2350
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: According to previous KCNQ1 (potassium channel, voltage gated, KQT-like subfamily, member 1) gene screening studies, missense variants, but not nonsense or frame-shift variants, cause the majority of long QT syndrome (LQTS; Romano-Ward syndrome [RWS]) 1 cases. Several missense variants are reported to cause RWS by a dominant-negative mechanism, and some KCNQ1 variants can cause both Jervell and Lange-Nielsen Syndrome (JLNS; in an autosomal recessive manner) and LQTS1 (in an autosomal dominant manner), while other KCNQ1 variants cause only JLNS. The human KCNQ1 gene is known to have two transcript isoforms (kidney isoform and pancreas isoform), and both isoforms can form a functional cardiac potassium channel. CASE PRESENTATION: Here, we report a novel nonsense KCNQ1 variant causing not only JLNS, but also significant QTc prolongation identical to RWS in an autosomal dominant manner. Our case study supports that haploinsufficiency in the KCNQ1 gene is causative of significant QTc prolongation identical to RWS. Interestingly, the nonsense variant (NM_000218.2:c.115G > T [p.Glu39X]) locates in exon 1a of KCNQ1, which is a kidney-isoform specific exon. The variant is located closer to the N-terminus than previously identified nonsense or frame-shift variants. CONCLUSION: To the best of our knowledge, this is the first report showing that a nonsense variant in exon 1a of KCNQ1, which is the kidney-isoform specific exon, causes JLNS. Our findings may be informative to the genetic pathogenesis of RWS and JLNS caused by KCNQ1 variants.
[Mh] MeSH terms primary: Codon, Nonsense
Exons
Jervell-Lange Nielsen Syndrome/genetics
KCNQ1 Potassium Channel/genetics
Long QT Syndrome/genetics
[Mh] MeSH terms secundary: Female
Homozygote
Humans
Middle Aged
Pregnancy
Pregnancy Complications/genetics
Protein Isoforms/genetics
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (Codon, Nonsense); 0 (KCNQ1 Potassium Channel); 0 (KCNQ1 protein, human); 0 (Protein Isoforms)
[Em] Entry month:1707
[Cu] Class update date: 170724
[Lr] Last revision date:170724
[Js] Journal subset:IM
[Da] Date of entry for processing:170610
[St] Status:MEDLINE
[do] DOI:10.1186/s12881-017-0430-7

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[PMID]: 28364778
[Au] Autor:Adadi N; Lahrouchi N; Bouhouch R; Fellat I; Amri R; Alders M; Sefiani A; Bezzina C; Ratbi I
[Ad] Address:Centre de Génomique Humaine, Faculté de Médecine et Pharmacie, Mohammed V University, Rabat, Morocco. najlae.adadi@yahoo.fr.
[Ti] Title:Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report.
[So] Source:J Med Case Rep;11(1):88, 2017 Apr 02.
[Is] ISSN:1752-1947
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Jervell and Lange-Nielsen syndrome (Online Mendelian Inheritance in Man 220400) is a rare autosomal recessive cardioauditory ion channel disorder that affects 1/200,000 to 1/1,000,000 children. It is characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval, ventricular tachyarrhythmias, and episodes of torsade de pointes on an electrocardiogram. Cardiac symptoms arise mostly in early childhood and consist of syncopal episodes during periods of stress, exercise, or fright and are associated with a high risk of sudden cardiac death. Jervell and Lange-Nielsen syndrome is caused by homozygous or compound heterozygous mutations in KCNQ1 on 11p15.5 or KCNE1 on 1q22.1-q22.2. CASE PRESENTATION: We report the case of a 10-year-old Moroccan boy with congenital hearing loss and severely prolonged QT interval who presented with multiple episodes of syncope. His parents are first-degree cousins. We performed Sanger sequencing and identified a homozygous variant in KCNQ1 (c.1343dupC, p.Glu449Argfs*14). CONCLUSIONS: The identification of the genetic substrate in this patient confirmed the clinical diagnosis of Jervell and Lange-Nielsen syndrome and allowed us to provide him with appropriate management and genetic counseling to his family. In addition, this finding contributes to our understanding of genetic disease in the Moroccan population.
[Mh] MeSH terms primary: Adrenergic beta-Antagonists/therapeutic use
Electrocardiography
Genetic Counseling
Jervell-Lange Nielsen Syndrome/diagnosis
Syncope/genetics
[Mh] MeSH terms secundary: Child
DNA Mutational Analysis
Humans
Jervell-Lange Nielsen Syndrome/genetics
KCNQ1 Potassium Channel/genetics
Male
Morocco
Mutation, Missense/genetics
Pedigree
Syncope/etiology
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (Adrenergic beta-Antagonists); 0 (KCNQ1 Potassium Channel)
[Em] Entry month:1709
[Cu] Class update date: 170911
[Lr] Last revision date:170911
[Js] Journal subset:IM
[Da] Date of entry for processing:170403
[St] Status:MEDLINE
[do] DOI:10.1186/s13256-017-1243-1

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[PMID]: 27917693
[Au] Autor:Wang C; Lu Y; Cheng J; Zhang L; Liu W; Peng W; Zhang D; Duan H; Han D; Yuan H
[Ad] Address:a Institute of Otolaryngology , Chinese PLA General Hospital , Beijing , PR China.
[Ti] Title:Identification of KCNQ1 compound heterozygous mutations in three Chinese families with Jervell and Lange-Nielsen Syndrome.
[So] Source:Acta Otolaryngol;137(5):522-528, 2017 May.
[Is] ISSN:1651-2251
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:CONCLUSION: Besides expanding the spectrum of KCNQ1 mutations causing Jervell and Lange-Nielsen Syndrome (JLNS), the results showed diversity of its phenotypes, and emphasized the importance of molecular genetic analysis in confirming clinical diagnosis and making diagnosis possible before the emergency symptoms for deaf individuals. OBJECTIVES: This study aimed to investigate four patients from three Chinese families with congenital hearing loss clinically and genetically. METHOD: Genetic analysis of previously reported deafness genes based on massively parallel sequencing was conducted in more than five thousand Chinese hearing loss patients. Detailed clinical features of the patients with compound heterozygous or homozygous mutations of KCNQ1 gene were collected and analyzed. RESULTS: Compound mutations of KCNQ1 were found to be the genetic etiology of four patients from three families. Among the six KCNQ1 mutations, c.546C > A was identified as a novel mutation, c.965C > T had been reported in JLNS, while c.683 + 5G > A, c.1484_1485delCT, c.905C > T and c.1831G > A were previously reported in LQT1. In addition to congenital profound hearing loss in all subjects, two sibling subjects showed typical JLNS cardiac phenotype of prolonged QTc and recurrent syncopal episodes. One subject presented not only JLNS, but also iron-deficiency anemia and epilepsy. The other subject did not present any cardiac phenotype.
[Mh] MeSH terms primary: Jervell-Lange Nielsen Syndrome/genetics
KCNQ1 Potassium Channel/genetics
[Mh] MeSH terms secundary: Animals
Asian Continental Ancestry Group/genetics
Child
China
DNA Mutational Analysis
Electroencephalography
Female
Heterozygote
Humans
Male
Mutation
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (KCNQ1 Potassium Channel); 0 (KCNQ1 protein, human)
[Em] Entry month:1706
[Cu] Class update date: 170623
[Lr] Last revision date:170623
[Js] Journal subset:IM
[Da] Date of entry for processing:161206
[St] Status:MEDLINE
[do] DOI:10.1080/00016489.2016.1260156

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[PMID]: 27868350
[Au] Autor:Coto E; García-Fernández FJ; Calvo D; Salgado-Aranda R; Martín-González J; Alonso B; Iglesias S; Gómez J
[Ad] Address:Genética Molecular and Cardiología, HUCA, Oviedo, Spain.
[Ti] Title:An elderly Jervell and Lange-Nielsen patient heterozygous compound for two new KCNQ1 mutations.
[So] Source:Am J Med Genet A;173(3):749-752, 2017 Mar.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:We present the case of a 66-year-old female with early onset deafness and seizures, who was diagnosed with epilepsy at the age of 2 years. She received antiepileptic drugs and was free of syncope episodes for 32 years. After a syncope at the age of 34, the ECG was characteristic of long-QT syndrome and was treated with antiarrhythmic drugs. Sequencing of the KCNQ1 gene identified two novel KCNQ1 variants interpreted to be pathogenic, and the patient was finally diagnosed with Jervell and Lange-Nielsen syndrome. © 2016 Wiley Periodicals, Inc.
[Mh] MeSH terms primary: Heterozygote
Jervell-Lange Nielsen Syndrome/diagnosis
Jervell-Lange Nielsen Syndrome/genetics
KCNQ1 Potassium Channel/genetics
Mutation
[Mh] MeSH terms secundary: Aged
DNA Mutational Analysis
Delayed Diagnosis
Electrocardiography
Exons
Female
Genetic Association Studies
Humans
Phenotype
Sequence Analysis, DNA
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (KCNQ1 Potassium Channel)
[Em] Entry month:1710
[Cu] Class update date: 171019
[Lr] Last revision date:171019
[Js] Journal subset:IM
[Da] Date of entry for processing:161122
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.38062

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[PMID]: 27166093
[Au] Autor:Rector TS; Adabag S; Cunningham F; Nelson D; Dieperink E
[Ad] Address:From the Center for Chronic Disease Outcomes Research, the Division of Cardiology, and the Department of Psychiatry, Minneapolis VA Health Care System, and the Department of Medicine, University of Minnesota, Minneapolis; and the VA Center for Medication Safety, Hines, Ill.
[Ti] Title:Outcomes of Citalopram Dosage Risk Mitigation in a Veteran Population.
[So] Source:Am J Psychiatry;173(9):896-902, 2016 Sep 01.
[Is] ISSN:1535-7228
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:OBJECTIVE: A public safety communication issued by the Food and Drug Administration declared that citalopram dosages exceeding 40 mg/day were no longer considered safe because of a newly recognized risk of dosage-dependent QT interval prolongation. The authors compared the incidence of hospitalizations and mortality when higher dosages of citalopram were or were not reduced to ≤40 mg/day. METHOD: National electronic medical records compiled by the Veterans Health Administration were used to conduct a retrospective study of a population filling citalopram prescriptions for more than 40 mg/day when the safety communication was first issued in August 2011. Hospitalizations and mortality after dosages of citalopram were or were not reduced to ≤40 mg/day were compared using multivariable Cox regression. RESULTS: The at-risk cohort of 35,848 veterans (mean age, 58 years [SD=11]; 92% male) had citalopram prescriptions for 64 mg/day (SD=8.3), on average. Within 180 days after the safety communication was issued, 60% had filled prescriptions for ≤40 mg/day. All-cause hospitalizations or deaths were found to significantly increase after dosage reductions (adjusted hazard ratio=4.5, 95% CI=4.1-5.0), as were hospitalizations for depression or all-cause death (adjusted hazard ratio=2.2, 95% CI=1.8-2.6). Mortality did not decline (adjusted hazard ratio=1.0, 95% CI=0.8-1.3), and neither did hospitalizations for arrhythmias or all-cause deaths (adjusted hazard ratio=1.3, 95% CI=1.0-1.7). CONCLUSIONS: Reduction of prescribed citalopram dosages to a new safety limit was associated with a higher rate of hospitalization in a large patient population who had been treated with substantially higher dosages. Stipulating a safety limit for citalopram dosages before the benefits and risks of doing so were firmly established appears to have had unintended clinical consequences.
[Mh] MeSH terms primary: Citalopram/administration & dosage
Citalopram/adverse effects
Veterans
[Mh] MeSH terms secundary: Adult
Aged
Cause of Death
Dose-Response Relationship, Drug
Female
Humans
Jervell-Lange Nielsen Syndrome/chemically induced
Jervell-Lange Nielsen Syndrome/prevention & control
Male
Middle Aged
Retrospective Studies
Risk
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0DHU5B8D6V (Citalopram)
[Em] Entry month:1705
[Cu] Class update date: 170501
[Lr] Last revision date:170501
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:160512
[St] Status:MEDLINE
[do] DOI:10.1176/appi.ajp.2016.15111444

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[PMID]: 27041150
[Au] Autor:Vyas B; Puri RD; Namboodiri N; Nair M; Sharma D; Movva S; Saxena R; Bohora S; Aggarwal N; Vora A; Kumar J; Singh T; Verma IC
[Ad] Address:Centre of Medical Genetics, Sir Ganga Ram Hospital, Delhi, India.
[Ti] Title:KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.
[So] Source:Am J Med Genet A;170(6):1510-9, 2016 Jun.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Long QT syndrome type 1 (LQT1) is the most common type of all Long QT syndromes (LQTS) and occurs due to mutations in KCNQ1. Biallelic mutations with deafness is called Jervell and Lange-Nielsen syndrome (JLNS) and without deafness is autosomal recessive Romano-Ward syndrome (AR RWS). In this prospective study, we report biallelic mutations in KCNQ1 in Indian patients with LQT1 syndrome. Forty patients with a clinical diagnosis of LQT1 syndrome were referred for molecular testing. Of these, 18 were excluded from the analysis as they did not fulfill the inclusion criteria of broad T wave ECG pattern of the study. Direct sequencing of KCNQ1 was performed in 22 unrelated probands, parents and at-risk family members. Mutations were identified in 17 patients, of which seven had heterozygous mutations and were excluded in this analysis. Biallelic mutations were identified in 10 patients. Five of 10 patients did not have deafness and were categorized as AR RWS, the rest being JLNS. Eight mutations identified in this study have not been reported in the literature and predicted to be pathogenic by in silico analysis. We hypothesize that the homozygous biallelic mutations identified in 67% of families was due to endogamous marriages in the absence of consanguinity. This study presents biallelic gene mutations in KCNQ1 in Asian Indian patients with AR JLNS and RWS. It adds to the scant worldwide literature of mutation studies in AR RWS. © 2016 Wiley Periodicals, Inc.
[Mh] MeSH terms primary: Genetic Association Studies
Jervell-Lange Nielsen Syndrome/genetics
KCNQ1 Potassium Channel/genetics
Long QT Syndrome/genetics
Mutation
Phenotype
Romano-Ward Syndrome/genetics
[Mh] MeSH terms secundary: Adolescent
Alleles
Amino Acid Sequence
Child
Child, Preschool
Exons
Female
Humans
India
Infant
Infant, Newborn
Jervell-Lange Nielsen Syndrome/diagnosis
Long QT Syndrome/diagnosis
Male
Romano-Ward Syndrome/diagnosis
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Name of substance:0 (KCNQ1 Potassium Channel)
[Em] Entry month:1710
[Cu] Class update date: 171024
[Lr] Last revision date:171024
[Js] Journal subset:IM
[Da] Date of entry for processing:160405
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.37636

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[PMID]: 26412604
[Au] Autor:Sanecka A; Biernacka EK; Szperl M; Sosna M; Mueller-Malesinska M; Kozicka U; Baranowski R; Kosiec A; Lazarczyk H; Skarzynski H; Hoffman P; Bieganowska K; Piotrowicz R
[Ad] Address:Department and Clinic of Cardiac Rehabilitation and Noninvasive Electrocardiology, Institute of Cardiology, Warsaw, Poland. agasa@mp.pl.
[Ti] Title:QTc prolongation in patients with hearing loss: Electrocardiographic and genetic study.
[So] Source:Cardiol J;23(1):34-41, 2016.
[Is] ISSN:1897-5593
[Cp] Country of publication:Poland
[La] Language:eng
[Ab] Abstract:BACKGROUND: The aim of the study was to determine, whether electrocardiogram (ECG) screening could reduce the risk of sudden cardiac death in patients with hearing loss through the early diagnosis of Jervell and Lange-Nielsen syndrome and the introduction of the therapy. METHODS: One thousand and eighty patients with hearing loss (aged 21.8 ± 19.9 years) underwent ECG. Additionally, all subjects were asked to complete a 3-question survey. Those who met, at least, one of the high-risk criteria underwent further cardiac assessment and genetic testing. RESULTS: QTc assessment was possible in 1,027 patients. Mean QTc measured 422.8 ± 23.7 ms in 313 women, 414.9 ± 27.7 ms in 273 men and 421.1 ± 21.5 ms in 441 children (individuals younger than 14 years). Abnormal QTc was found in 13 (4.1%) women, 20 (7.3%) men, and 72 (16.3%) children. In the studied group, no recessive mutation of KNCQ1 or KCNE1 was found. In 6 patients, other mutations were found: in KCNQ1 (n = 1), in KCNH2 (n = 3) and in SCN5A (n = 1), which were pathogenic for long-QT-syndromes (LQTS), and 2 mutations of unknown clinical significance in SCN5A. Overall, out of these 6 patients LQTS was diagnosed in 3 asymptomatic patients, but with abnormal QTc and in 2 patients with normal QTc, but who were previously treated for epilepsy. CONCLUSIONS: Jervell and Lange-Nielsen syndrome is a very rare condition even in a population with hearing loss. In this population, the prevalence of prolonged QT interval is increased over the general population. Further investigations are necessary.
[Mh] MeSH terms primary: Electrocardiography
Genetic Testing
Hearing Loss, Sensorineural/diagnosis
Heart Conduction System/physiopathology
Heart Rate
Jervell-Lange Nielsen Syndrome/diagnosis
Mutation
[Mh] MeSH terms secundary: Action Potentials
Adolescent
Adult
Aged
Aged, 80 and over
Child
Child, Preschool
Female
Genetic Markers
Genetic Predisposition to Disease
Hearing Loss, Sensorineural/genetics
Hearing Loss, Sensorineural/physiopathology
Hearing Tests
Humans
Infant
Jervell-Lange Nielsen Syndrome/genetics
Jervell-Lange Nielsen Syndrome/physiopathology
Male
Middle Aged
Phenotype
Poland
Predictive Value of Tests
Prospective Studies
Risk Factors
Surveys and Questionnaires
Young Adult
[Pt] Publication type:JOURNAL ARTICLE; MULTICENTER STUDY; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Genetic Markers)
[Em] Entry month:1612
[Cu] Class update date: 161230
[Lr] Last revision date:161230
[Js] Journal subset:IM
[Da] Date of entry for processing:150929
[St] Status:MEDLINE
[do] DOI:10.5603/CJ.a2015.0062

  9 / 89 MEDLINE  
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[PMID]: 26205899
[Au] Autor:Eftekharian A; Mahani MH
[Ad] Address:Hearing Disorders Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran. Electronic address: alishko@gmail.com.
[Ti] Title:Jervell and Lange-Nielsen syndrome in cochlear implanted patients: our experience and a review of literature.
[So] Source:Int J Pediatr Otorhinolaryngol;79(9):1544-7, 2015 Sep.
[Is] ISSN:1872-8464
[Cp] Country of publication:Ireland
[La] Language:eng
[Ab] Abstract: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. MATERIALS AND METHODS: Electrocardiograms (ECG) of 503 children with congenital bilateral profound hearing loss which were cochlear implanted in cochlear implant center of a tertiary hospital were evaluated for long QT syndrome. Clinical reports of the patients with JLNS were evaluated and a review of literature performed. RESULTS: The prevalence of disease was 0.79% (four cases) in our center which is in the range of literature reports (0-2.6%). None of our patients had a history of syncopal attack. Two patients (50%) were born from parents with consanguineous marriage. Considering all precautions their cochlear implant surgeries were done uneventfully. A review of the literature has identified sixteen reports on cochlear implantation in a total of 38 children with JLNS. Similar to our cases none of the authors reported cardiac events during device switch-on. Nine available reports about the outcome of cochlear implantation in these patients indicated good auditory outcome. CONCLUSION: It is recommended that all congenitally deaf patients have an ECG taken as a part of the evaluation. As auditory stimuli is reported to be a specific trigger, it is prudent to activate the processor with continuous heart monitoring even though there is no reported cardiac event during device switch-on. Cochlear implantation can be performed relatively safely in these patients if necessary precautions have been taken appropriately and their auditory outcome is good. Triggers of the cardiac events should be avoided throughout their life.
[Mh] MeSH terms primary: Cochlear Implantation/adverse effects
Cochlear Implants
Jervell-Lange Nielsen Syndrome/surgery
[Mh] MeSH terms secundary: Child
Child, Preschool
Cochlear Implantation/methods
Electrocardiography
Female
Humans
Infant
Jervell-Lange Nielsen Syndrome/complications
Male
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1603
[Cu] Class update date: 150812
[Lr] Last revision date:150812
[Js] Journal subset:IM
[Da] Date of entry for processing:150725
[St] Status:MEDLINE

  10 / 89 MEDLINE  
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[PMID]: 26153335
[Au] Autor:Bali C; Ozmete O; Ergenoglu P; Akin S
[Ad] Address:Baskent University School of Medicine, Anesthesiology and Reanimation Department, Baskent Universitesi Tip Fakultesi Adana Uygulama ve Arastirma Merkezi Dadaloglu, Mh.39. Sk. No.6 01250, Yuregir/Adana, Turkiye. Electronic address: caglaetike@hotmail.com.
[Ti] Title:Anesthesia management of a patient with Jervell and Lange-Nielsen syndrome.
[So] Source:J Clin Anesth;27(8):699-701, 2015 Dec.
[Is] ISSN:1873-4529
[Cp] Country of publication:United States
[La] Language:eng
[Mh] MeSH terms primary: Anesthesia/methods
Jervell-Lange Nielsen Syndrome/physiopathology
[Mh] MeSH terms secundary: Electrocardiography
Female
Humans
Perioperative Care/methods
Young Adult
[Pt] Publication type:CASE REPORTS; LETTER
[Em] Entry month:1608
[Cu] Class update date: 151114
[Lr] Last revision date:151114
[Js] Journal subset:IM
[Da] Date of entry for processing:150709
[St] Status:MEDLINE


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