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MICHEL HAÏSSAGUERRE M.D. STÉPHANIE CHATEL M.S. FREDERIC SACHER M.D. RUKSHEN WEERASOORIYA M.D. VINCENT PROBST M.D. Ph.D. GILDAS LOUSSOUARN Ph.D. M.D. MARC HORLITZ M.D. RUEDIGE LIERSCH M.D. Ph.D. ERIC SCHULZE‐BAHR M.D. Ph.D. ARTHUR WILDE M.D. Ph.D. STEFAN KÄÄB M.D. Ph.D. JOSEPH KOSTER Ph.D. YORAM RUDY Ph.D. HERVÉ LE MAREC M.D. Ph.D. JEAN JACQUES SCHOTT Ph.D. 《Journal of cardiovascular electrophysiology》2009,20(1):93-98
Background: Early repolarization in the inferolateral leads has been recently recognized as a frequent syndrome associated with idiopathic ventricular fibrillation (VF). We report the case of a patient presenting dramatic changes in the ECG in association with recurrent VF in whom a novel genetic variant has been identified.
Case Report: This young female (14 years) was resuscitated in 2001 following an episode of sudden death due to VF. All examinations including coronary angiogram with ergonovine injection, MRI, and flecainide or isoproterenol infusion were normal. The patient had multiple (>100) recurrences of VF unresponsive to beta-blockers, lidocaine/mexiletine, verapamil, and amiodarone. Recurrences of VF were associated with massive accentuation of the early repolarization pattern at times mimicking acute myocardial ischemia. Coronary angiography during an episode with 1.2 mV J/ST elevation was normal. Isoproterenol infusion acutely suppressed electrical storms, while quinidine eliminated all recurrences of VF and restored a normal ECG over a follow-up of 65 months. Genomic DNA sequencing of KATP channel genes showed missense variant in exon 3 (NC_000012) of the KCNJ8 gene, a subunit of the KATP channel, conferring predisposition to dramatic repolarization changes and ventricular vulnerability. 相似文献
Case Report: This young female (14 years) was resuscitated in 2001 following an episode of sudden death due to VF. All examinations including coronary angiogram with ergonovine injection, MRI, and flecainide or isoproterenol infusion were normal. The patient had multiple (>100) recurrences of VF unresponsive to beta-blockers, lidocaine/mexiletine, verapamil, and amiodarone. Recurrences of VF were associated with massive accentuation of the early repolarization pattern at times mimicking acute myocardial ischemia. Coronary angiography during an episode with 1.2 mV J/ST elevation was normal. Isoproterenol infusion acutely suppressed electrical storms, while quinidine eliminated all recurrences of VF and restored a normal ECG over a follow-up of 65 months. Genomic DNA sequencing of K
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SVETLANA GATAULLINA GEORGES DELLATOLAS HERVÉ PERDRY JEAN‐JACQUES ROBERT VASSILI VALAYANNOPOULOS GUY TOUATI CHRIS OTTOLENGHI OLIVIER DULAC PASCALE DE LONLAY 《Developmental medicine and child neurology》2012,54(11):1012-1017
Aim To determine risk factors for neurological sequelae following hypoglycemia. Method We analysed the neurological outcome in 164 patients (mean age 10y 10mo, SD 5.9) following hypoglycemia due to three diseases with various metabolic contexts, different ages at onset, and combinations with comorbidity (fever/infection, hypoxia/ischemia): glycogen storage disease type I (GSDI) (21 patients, mean age at first hypoglycemic episode 3.8mo, SD 3.5); fatty acid β‐oxidation defects (FAOD) (29 patients, mean age at first hypoglycemic episode 14.8mo, SD 12.6); and hyperinsulinism (HIns) (114 patients, mean age at first hypoglycemic episode 2.3mo, SD 4.7). Results Risk factors of poor neurological outcome were aetiology (p<0.006), comorbidity (p<0.001), and prolonged convulsions (p<0.001). Ordinal logistic regression showed that comorbidity (p<0.001) and status epilepticus (p=0.002) were the main determinants of sequelae. Asymptomatic hypoglycemia did not lead to sequelae, whatever the aetiology. Age was not correlated to sequelae, whatever the aetiology. The highest prevalence of hypoglycemic sequelae was found in FAOD and HIns combined with comorbidity, the lowest in GSDI (p<0.001) in which hypoglycemia is often asymptomatic, associated with increased plasma lactate, and rarely combined with comorbidity. Interpretation Hypoglycemia is severely deleterious for the brain in the context of fever/infection and/or hypoxia/ischemia, and status epilepticus. The metabolic context providing alternative fuels may improve neurological outcome. 相似文献
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ROBERTA DE CARVALHO CORÔA AMÉDÉ GOGOVOR ALI BEN CHARIF ASMA BEN HASSINE HERVÉ TCHALA VIGNON ZOMAHOUN ROBERT K. D. MCLEAN ANDREW MILAT KARINE V. PLOURDE NATHALIE RHEAULT LUKE WOLFENDEN FRANCE LÉGARÉ 《The Milbank quarterly》2023,101(3):881-921
Policy Points
- More rigorous methodologies and systematic approaches should be encouraged in the science of scaling. This will help researchers better determine the effectiveness of scaling, guide stakeholders in the scaling process, and ultimately increase the impacts of health innovations.
- The practice and the science of scaling need to expand worldwide to address complex health conditions such as noncommunicable and chronic diseases.
- Although most of the scaling experiences described in the literature are occurring in the Global South, most of the authors publishing on it are based in the Global North. As the science of scaling spreads across the world with the aim of reducing health inequities, it is also essential to address the power imbalance in how we do scaling research globally.
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