Helena Riuró

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Helena Riuró
Firma: Helena Riuró
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A novel missense mutation, I890T, in the pore region of cardiac sodium channel causes Brugada syndrome.

A novel missense mutation, I890T, in the pore region of cardiac sodium channel causes Brugada syndrome.

Brugada syndrome (BrS) is a life-threatening, inherited arrhythmogenic syndrome associated with autosomal dominant mutations in SCN5A, the gene encoding the cardiac Na(+) channel alpha subunit (Na(v)1.5). The aim of this work was to characterize the functional alterations caused by a novel SCN5A mutation, I890T, and thus establish whether this mutation is associated with BrS. The mutation was identified by direct sequencing of SCN5A from the proband's DNA. Wild-type (WT) or I890T Na(v)1.5 channels were heterologously expressed in human embryonic kidney cells.

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Urethral catheter-related urinary infection in critical patients admitted to the ICU. Descriptive data of the ENVIN-UCI study.

Urethral catheter-related urinary infection in critical patients admitted to the ICU. Descriptive data of the ENVIN-UCI study.

OBJECTIVE: To describe trends in national catheter-related urinary tract infection (CRUTI) rates, as well as etiologies and multiresistance markers. DESIGN: An observational, prospective, multicenter voluntary participation study was conducted from 1 April to 30 June in the period between 2005 and 2010. SETTING: Intensive Care Units (ICUs) that participated in the ENVIN-ICU registry during the study period. PATIENTS: We included all patients admitted to the participating ICUs and patients with urinary catheter placement for more than 24 hours (78,863 patients).

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A missense mutation in the sodium channel β2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome.

A missense mutation in the sodium channel β2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome.

Brugada Syndrome (BrS) is a familial disease associated with sudden cardiac death. A 20%-25% of BrS patients carry genetic defects that cause loss-of-function of the voltage-gated cardiac sodium channel. Thus, 70%-75% of patients remain without a genetic diagnosis. In this work, we identified a novel missense mutation (p.Asp211Gly) in the sodium β2 subunit encoded by SCN2B, in a woman diagnosed with BrS. We studied the sodium current (INa ) from cells coexpressing Nav 1.5 and wild-type (β2WT) or mutant (β2D211G) β2 subunits.

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