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1.
Rev. otorrinolaringol. cir. cabeza cuello ; 73(3): 268-270, dic. 2013. ilus
Artigo em Espanhol | LILACS | ID: lil-704561

RESUMO

El síndrome de Jervell y Lange-Nielsen es una forma poco frecuente de síndrome de QT largo. Su herencia es autosómica recesiva y se manifiesta con sordera neurosensorial. Revisamos el caso de una niña de 7 años implantada coclear bilateral. Tras un episodio sincopal se realiza el diagnóstico de síndrome de QT largo, el estudio genético confirma el diagnóstico. Recomendamos realizar electrocardiograma a todos los niños con hipoacusia severa con el objeto de descartar este síndrome.


The Jervell and Lange-Nielsen (JLNS) is an uncommon form of long QT syndrome. His inheritance is autosomal recessive and manifests as a sensorineural deafness. We review the case of a 7 year old girl bilateral cochlear implanted. After a syncope episode, a long QT syndrome was confirmed by genetic study. We recommend electrocardiogram (ECG) to all children with severe hearing loss in order to rule out this syndrome.


Assuntos
Humanos , Feminino , Criança , Síndrome de Jervell-Lange Nielsen/diagnóstico , Síndrome de Jervell-Lange Nielsen/fisiopatologia , Perda Auditiva/etiologia , Síndrome do QT Longo/diagnóstico , Síndrome do QT Longo/fisiopatologia , Síndrome de Jervell-Lange Nielsen/complicações , Eletrocardiografia , Perda Auditiva/cirurgia , Perda Auditiva/genética
3.
Gac. méd. Caracas ; 116(3): 224-234, sep. 2008. tab
Artigo em Espanhol | LILACS | ID: lil-630594

RESUMO

La medición del intervalo QT y QT corregido es importante en el seguimiento de pacientes cardiópatas así como de aquellos que reciben medicamentos que de una u otra forma afectan dicho intervalo. Se revisan las fórmulas más conocidas para el cálculo del QT corregido y se estudia su aplicación clínica


The measurement of the interval QT and corrected QT is important in the follow-up of cardiac patients as well as from those who receive medicines which of one or another form affect this interval. The most well-known formulas for the calculation of the corrected QT are reviewed and its clinical application are studied


Assuntos
Humanos , Masculino , Adolescente , Adulto , Feminino , Criança , Pessoa de Meia-Idade , Cardiopatias/etiologia , Cardiopatias/patologia , Cardiopatias/terapia , Eletrocardiografia/métodos , Frequência Cardíaca/imunologia , Síndrome de Jervell-Lange Nielsen/fisiopatologia , Síndrome de Romano-Ward/fisiopatologia , Arritmias Cardíacas/patologia , Canais de Cálcio , Radiação , Canais de Sódio
4.
Arch. cardiol. Méx ; 76(3): 257-262, jul.-sept. 2006.
Artigo em Espanhol | LILACS | ID: lil-568735

RESUMO

BACKGROUND: Long QT syndromes (LQTS) are inherited cardiac disorders caused by mutations in the genes that encode sodium or potassium transmembrane ion channel proteins. More than 200 mutations, in at least six genes, have been found in these patients. The Jervell and Lange-Nielsen (JLN) syndrome is the recessive form of the disease and is associated with deafness. Few families with JLN syndrome and genetic studies are reported in the literature. METHODS: The KCNQ1 (KvLQT1) gene in a Mexican family with Jervell-Lange-Nielsen long QT syndrome was analyzed using an automated sequence method. RESULTS: A missense mutation was found in the three affected individuals. This mutation is associated with complete loss of channel function. Correlation with the phenotype showed a prolonged QTc interval and deafness in the two siblings homozygous to the mutation. The mother, who was heterozygous for the mutation, also had prolonged QTc interval without deafness. The father and younger brother had normal QTc intervals. The mutation was not found in 50 healthy controls studied. CONCLUSIONS: We describe for the first time a mutation in the KCNQ1 gene in a Mexican family with JLN long QT syndrome. This mutation produces an amino acid change (Gly-Arg) at protein level at the 168 residue. This mutation has been previously reported in Caucasian families with LQTS.


Assuntos
Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Síndrome de Jervell-Lange Nielsen , Canal de Potássio KCNQ1 , Mutação de Sentido Incorreto , México , Linhagem
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