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3.
Herzschrittmacherther Elektrophysiol ; 31(1): 39-47, 2020 Mar.
Artigo em Alemão | MEDLINE | ID: mdl-32006164

RESUMO

Brugada syndrome is ion channelopathy defined by coved type ST-elevation in at least one right precordial ECG lead. Patients may suffer from ventricular tachycardia/fibrillation, which may cause syncope or sudden cardiac death. The majority of patients are likely to remain asymptomatic throughout life. A correct ECG diagnosis remains challenging. The implantable cardioverter/defibrillator (ICD) is the only established therapy to protect against sudden cardiac death. Thus, individual risk stratification is of major clinical relevance in primary prevention. The present article gives an update on current risk stratification and novel therapeutic options apart from ICD therapy.


Assuntos
Síndrome de Brugada , Síndrome de Brugada/complicações , Morte Súbita Cardíaca/etiologia , Desfibriladores Implantáveis , Eletrocardiografia , Humanos , Medição de Risco
5.
Am Heart J ; 220: 213-223, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31864099

RESUMO

BACKGROUND: Cardiogenic syncope in Brugada syndrome (BrS) increases the risk of major events. Nevertheless, clinical differentiation between cardiogenic and vasovagal syncope can be challenging. We characterized the long-term incidence of major events in a large cohort of BrS patients who presented with syncope. METHODS: From a total of 474 patients, syncope was the initial manifestation in 135 (28.5%) individuals (43.9 ±â€¯13.9 years, 71.1% male). The syncope was classified prospectively as cardiogenic, vasovagal, or undefined if unclear characteristics were present. Clinical, electrocardiographic, genetic, and electrophysiologic features were analyzed. Cardiogenic syncope, sustained ventricular arrhythmias, and sudden death were considered major events in follow-up. RESULTS: In 66 patients (48.9%), the syncope was cardiogenic; in 51 (37.8%), vasovagal and in 18 (13.3%); undefined. The electrophysiology study (EPS) inducibility was more frequent in patients with cardiogenic syncope and absent in all patients with undefined syncope (28 [53.8%] vs 5 [12.2%] vs 0 [0%]; P < .01). During follow-up (7.7 ±â€¯5.6 years), only patients with cardiogenic syncope presented major events (16 [11.9%]). Among patients with inducible EPS, 7 (21.2%) presented major events (P = .04). The negative predictive value of the EPS for major events was 92.4%. The incidence rate of major events was 2.6% person-year. Parameters associated with major events included cardiogenic syncope (hazard ratio [HR] 6.3; 95% CI 1.1-10.4; P = .05), spontaneous type 1 electrocardiogram (HR 3.7; 95% CI 1.3-10.5; P = .01), and inducible EPS (HR 2.8; 95% CI 1.1-8.8; P = .05). CONCLUSIONS: An accurate syncope classification is crucial in BrS patients for risk stratification. In patients with syncope of unclear characteristics, the EPS may be helpful to prevent unnecessary implantable cardioverter defibrillators.


Assuntos
Síndrome de Brugada/complicações , Síncope/etiologia , Adulto , Arritmias Cardíacas/etiologia , Síndrome de Brugada/fisiopatologia , Morte Súbita Cardíaca/etiologia , Desfibriladores Implantáveis , Eletrocardiografia , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Canal de Sódio Disparado por Voltagem NAV1.5/genética , Valor Preditivo dos Testes , Prevalência , Síncope/classificação , Síncope/epidemiologia , Síncope/fisiopatologia , Síncope Vasovagal/epidemiologia , Síncope Vasovagal/etiologia , Síncope Vasovagal/fisiopatologia , Teste da Mesa Inclinada
6.
Intern Med ; 58(21): 3099-3102, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31685785

RESUMO

A 30-year-old woman was referred to our hospital to undergo an evaluation for suspected Brugada syndrome. She showed no symptoms, but had a strong family history of sudden cardiac death. During observation, Holter electrocardiography (ECG), which had been performed to investigate her symptoms of occasional dizziness, showed a sinus node dysfunction with an occasional long sinus pause. An implantable cardioverter defibrillator (ICD) was therefore put in place, and bradycardia pacing from the ICD relieved those symptoms during the subsequent 18-month follow-up. The patient completed two pregnancies during the follow-up period. No symptomatic changes occurred during the pregnancies, but ECG indicated that an ST segment elevation in the right precordial leads was attenuated during the second and third trimesters of both pregnancies.


Assuntos
Síndrome de Brugada/terapia , Desfibriladores Implantáveis , Complicações Cardiovasculares na Gravidez/terapia , Adulto , Bradicardia/terapia , Síndrome de Brugada/diagnóstico , Morte Súbita Cardíaca , Eletrocardiografia , Eletrocardiografia Ambulatorial , Feminino , Humanos , Linhagem , Gravidez , Síndrome do Nó Sinusal/diagnóstico , Síndrome do Nó Sinusal/terapia
7.
Int J Mol Sci ; 20(19)2019 Oct 04.
Artigo em Inglês | MEDLINE | ID: mdl-31590245

RESUMO

Brugada syndrome (BrS) is marked by an elevated ST-segment elevation and increased risk of sudden cardiac death. Variants in the SCN5A gene are considered to be molecular confirmation of the syndrome in about one third of cases, while the genetics remain a mystery in about half of the cases, with the remaining cases being attributed to variants in any of a number of genes. Before research models can be developed, it is imperative to understand the genetics in patients. Even data from humans is complicated, since variants in the most common gene in BrS, SCN5A, are associated with a number of pathologies, or could even be considered benign, depending on the variant. Here, we provide crucial human data on a novel NM_198056.2:c.2091G>A (p.Trp697X) point-nonsense heterozygous variant in the SCN5A gene, as well as its segregation with BrS. The results herein suggest a pathogenic effect of this variant. These results could be used as a stepping stone for functional studies to better understand the molecular effects of this variant in BrS.


Assuntos
Síndrome de Brugada/genética , Códon sem Sentido , Canal de Sódio Disparado por Voltagem NAV1.5/genética , Adulto , Síndrome de Brugada/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem
8.
Expert Opin Pharmacother ; 20(17): 2101-2114, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31566420

RESUMO

Introduction: Ventricular arrhythmias are often seen in association with structural heart disease. However, approximately a tenth of affected patients have apparently normal hearts, where such arrhythmias typically occur in young patients, are sometimes inherited and can occasionally lead to sudden cardiac death (SCD). Over the past two decades, increased understanding of the underlying pathophysiology resulted in improved targeted pharmacological therapy.Areas covered: This article reviews current knowledge regarding drug therapy for inherited arrhythmia syndromes (Brugada, early repolarization, long QT and short QT syndromes, and catecholaminergic polymorphic ventricular tachycardia), and acquired arrhythmias (idiopathic ventricular fibrillation, short-coupled torsade de pointes, outflow tract ventricular tachycardia, idiopathic left, papillary muscle and annular ventricular tachycardias).Expert opinion: In inherited arrhythmia syndromes, appropriate clinical and genetic diagnoses followed by proper selection and dosing of antiarrhythmic drugs are of utmost importance to prevent SCD, most often without the need of implantable cardioverter-defibrillators. In acquired arrhythmias, appropriate pharmacotherapy in selected patients can also provide symptomatic relief and avoid the need for invasive therapy. Further research is needed to develop novel antiarrhythmic drugs or targeted therapy to increase efficacy and limit side effects.


Assuntos
Antiarrítmicos/uso terapêutico , Arritmias Cardíacas/tratamento farmacológico , Antagonistas Adrenérgicos beta/uso terapêutico , Arritmias Cardíacas/genética , Arritmias Cardíacas/patologia , Síndrome de Brugada/tratamento farmacológico , Síndrome de Brugada/patologia , Estudos de Associação Genética , Humanos , Síndrome do QT Longo/tratamento farmacológico , Síndrome do QT Longo/patologia , Quinidina/uso terapêutico , Taquicardia Ventricular/tratamento farmacológico , Taquicardia Ventricular/patologia
9.
Rev Port Cardiol ; 38(7): 503-509, 2019 07.
Artigo em Inglês, Português | MEDLINE | ID: mdl-31522937

RESUMO

In up to one-third of cases of sudden death, the medico-legal autopsy finding is inconclusive, and the option to perform a molecular autopsy is covered in international guidelines. The importance of postmortem genetic testing lies in its ability to identify hereditary diseases, often those with an autosomal dominant transmission pattern, and, through consultations and screening of relatives, to identify family members with a pathogenic mutation, who are often asymptomatic, providing an opportunity to change the course of their lives. The authors present three clinical cases that highlight the importance of postmortem genetic studies and family studies, as well as the integration of the data obtained in a cardiology consultation, which may be for arrhythmology, coronary disease or cardiomyopathy, depending on the specific condition. This could modify the course of the disease in many relatives.


Assuntos
Síndrome de Brugada/diagnóstico , Morte Súbita Cardíaca/patologia , Testes Genéticos/métodos , Adolescente , Adulto , Autopsia , Síndrome de Brugada/complicações , Síndrome de Brugada/genética , Morte Súbita Cardíaca/etiologia , Evolução Fatal , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
10.
Zhonghua Er Ke Za Zhi ; 57(9): 700-704, 2019 Sep 02.
Artigo em Chinês | MEDLINE | ID: mdl-31530356

RESUMO

Objective: To analyze and summarize the diagnosis and treatment experience of common inherited cardiac arrhythmia syndrome in pediatric patients, and explore the most appropriate therapy. Methods: A retrospective review identified 30 pediatric cases (19 males, 11 females) diagnosed with long QT syndrome (LQTS), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), hypertrophic cardiomyopathy (HCM), arrhythmogenc right ventricular cardiomyopathy (ARVC) from January 2008 to December 2018 in the Pediatric Cardiology Department, Guangdong Provincial People's Hospital. Data obtained included the diagnosis, treatment and follow-up outcome. Results: The most common inherited cardiac arrhythmia syndromes were LQTS (n=14) including 1 case with epilepsy, CPVT (n=5), HCM (n=7), ARVC (n=1), and BrS (n=3). Twenty-seven cases were admitted to hospital due to syncope, whereas the remaining 3 cases of BrS had not presented with syncope before admission. The average onset age of inherited arrhythmia was (10.0±3.3) years. Genetic testing was performed on 20 patients. The median follow-up time was 40 months. Among 15 patients who underwent implantable cardioverter defibrillator (ICD) and survived, 2 patients had frequent ICD discharge. One patient underwent radiofrequency ablation, and the other one received left cardiac sympathetic denervation and an increased ICD defibrillation threshold, and the number of ICD discharge was significantly reduced. Among 10 patients who received drug therapy, 4 patients including two patients who discontinued treatment without advices died. Two patients whose parents refused treatment died, 1 case diagnosed with unexplained sudden cerebral death, and the remaining 2 cases without indication for drug therapy survived without any treatment. Conclusions: Mortality rate is high in pediatric patients with inherited cardiac arrhythmia and syncope. The therapeutic effect of drugs are not satisfactory, ICD implantation is the most effective treatment to prevent sudden cardiac death currently, but the postoperative frequent discharge should be brought to the forefront and handled in time.


Assuntos
Displasia Arritmogênica Ventricular Direita/genética , Síndrome de Brugada/genética , Cardiomiopatia Hipertrófica/genética , Síndrome do QT Longo/genética , Taquicardia Ventricular/genética , Arritmias Cardíacas , Displasia Arritmogênica Ventricular Direita/diagnóstico , Displasia Arritmogênica Ventricular Direita/mortalidade , Displasia Arritmogênica Ventricular Direita/terapia , Síndrome de Brugada/diagnóstico , Síndrome de Brugada/mortalidade , Síndrome de Brugada/terapia , Cardiomiopatia Hipertrófica/diagnóstico , Cardiomiopatia Hipertrófica/mortalidade , Cardiomiopatia Hipertrófica/terapia , Criança , Morte Súbita Cardíaca , Desfibriladores Implantáveis , Feminino , Seguimentos , Testes Genéticos , Humanos , Síndrome do QT Longo/diagnóstico , Síndrome do QT Longo/mortalidade , Síndrome do QT Longo/terapia , Masculino , Estudos Retrospectivos , Síncope , Taquicardia Ventricular/diagnóstico , Taquicardia Ventricular/mortalidade , Taquicardia Ventricular/terapia , Resultado do Tratamento
11.
Clin Cardiol ; 42(10): 958-965, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31441080

RESUMO

BACKGROUND: Brugada syndrome (BrS) is associated with sudden cardiac death (SCD). Although implantable cardioverter-defibrillator (ICD) implantation is recommended, the long-term outcomes and follow-up data with regard to ICD complications have led to controversy. HYPOTHESIS: In the present study, we described the data assimilated in a total of 11 studies, analyzing the outcome in 747 BrS patients receiving ICD. METHODS: Data were performed and analyzed after a systematic review of literature compiled from a thorough database search (PubMed, Web of Science, Cochrane Library, and Cinahl). RESULTS: The mean age of patients receiving ICD was (43.1 ± 13.4, 82.5% males, 46.6% spontaneous BrS type I). Around 15.3% of the patients were admitted due to SCD and 10.4% suffered from atrial arrhythmia. Appropriate shocks were documented in 18.1% of the patients over a mean follow-up period of 82.3 months (47.5-110.4). The following complications were recorded: lead failure and fracture (5.4%), lead perforation (0.7%), lead dislodgement (1.7%), infection (3.9%), pain (0.4%), subclavian vein thrombosis (0.3%), pericardial effusion (0.1%), endocarditis (0.1%), psychiatric problems (1.5%), pneumothorax (0.7%). Inappropriate shocks were documented in 18.1% of the patients. The management of inappropriate shocks was achieved by pulmonary vein isolation (0.5%), drug treatment with sotalol (1.3%) or sotalol with beta-blocker (0.3%) and hydroquinidine (0.1%). CONCLUSIONS: ICD therapy in BrS is associated with relevant ICD-related complications including a substantial risk of inappropriate shocks more frequently in symptomatic BrS patients.


Assuntos
Síndrome de Brugada/terapia , Morte Súbita Cardíaca/prevenção & controle , Desfibriladores Implantáveis , Eletrocardiografia , Síndrome de Brugada/complicações , Síndrome de Brugada/mortalidade , Morte Súbita Cardíaca/etiologia , Seguimentos , Saúde Global , Humanos , Taxa de Sobrevida/tendências , Fatores de Tempo
12.
BMJ Case Rep ; 12(7)2019 Jul 11.
Artigo em Inglês | MEDLINE | ID: mdl-31300599

RESUMO

A prominent coved or saddle-shaped ST-segment elevation followed by T wave changes in V1-V3 and in the absence of other identifiable cause is termed as Brugada pattern. This pattern in the presence of documented ventricular arrhythmias or its symptoms (syncope, seizure) or significant family for sudden cardiac death or abovementioned ECG changes is called Brugada syndrome. Here we present a comprehensive literature review on the precipitation factors of Brugada syndrome/pattern by various stimuli, its presentation, associations, management and outcomes. We are also presenting a unique case of Brugada pattern where the patient's Brugada pattern was unmasked at an extreme old age by infection.


Assuntos
Síndrome de Brugada/diagnóstico , Dor no Peito/etiologia , Produtos de Degradação da Fibrina e do Fibrinogênio/metabolismo , Hipóxia/etiologia , Doença de Parkinson/fisiopatologia , Idoso de 80 Anos ou mais , Síndrome de Brugada/terapia , Eletrocardiografia , Humanos , Hipóxia/fisiopatologia , Masculino , Conforto do Paciente
13.
Am J Cardiol ; 124(5): 715-722, 2019 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-31284935

RESUMO

Some Brugada syndrome (BrS) patients have been suspected of being in the initial state of arrhythmogenic right ventricular cardiomyopathy (ARVC). This study aimed to clarify the electrocardiographic (ECG) and clinical differences between BrS and ARVC in long-term follow-up (mean 11.9 ± 6.3 years). A total of 50 BrS and 65 ARVC patients with fatal ventricular tachyarrhythmia (VTA) were evaluated according to the revised Task Force Criteria for ARVC. Based on the current diagnostic criteria concerning electrocardiographic, repolarization abnormality was positive in 2.0% and 2.6% of BrS patients at baseline and follow-up, and depolarization abnormality was positive in 6.0% and 12.8% of BrS patients at baseline and follow-up, respectively. At baseline, none of the BrS patients were definitively diagnosed with ARVC. Considering patients' lives since birth, Kaplan-Meier analysis revealed that age at first VTA attack showed the same tendency between the groups (BrS: mean 42.2 ± 12.5 years old vs ARVC: mean 44.8 ± 13.7 years old, log-rank p = 0.123). Moreover, the incidence of VTA recurrence was similar between the groups during follow-up (log-rank p = 0.906). Incidence of sustained monomorphic ventricular tachycardia was significantly higher in ARVC than in BrS whereas the opposite was true for ventricular fibrillation (log-rank p <0.001 and p <0.001, respectively). None of the diagnoses of BrS patients were changed to ARVC during follow-up. During long-term follow-up, although age at first VTA attack and VTA recurrence were similar, BrS consistently exhibited features that differed from those of ARVC.


Assuntos
Displasia Arritmogênica Ventricular Direita/diagnóstico , Síndrome de Brugada/diagnóstico , Eletrocardiografia , Taquicardia Ventricular/diagnóstico , Taquicardia Ventricular/mortalidade , Adulto , Fatores Etários , Displasia Arritmogênica Ventricular Direita/mortalidade , Síndrome de Brugada/mortalidade , Estudos de Coortes , Seguimentos , Humanos , Japão , Estimativa de Kaplan-Meier , Pessoa de Meia-Idade , Estudos Retrospectivos , Medição de Risco , Índice de Gravidade de Doença , Fatores Sexuais , Análise de Sobrevida , Fatores de Tempo
15.
Rev. esp. anestesiol. reanim ; 66(6): 338-341, jun.-jul. 2019.
Artigo em Espanhol | IBECS | ID: ibc-187543

RESUMO

El síndrome de Brugada (SBr) es una condición infrecuente y de alto riesgo que rara vez se encuentra en la sala de partos. Las pacientes embarazadas con SBr se benefician de las dosis más bajas posibles de fármacos arritmogénicos, como los anestésicos locales. Sobre la base de esta premisa, el siguiente caso expone cómo un abordaje subaracnoideo podría ser una técnica deseable en los procedimientos de cesárea para pacientes con SBr. El manejo del dolor y la ansiedad es prioritario en esta población específica. La planificación periparto, con una cita previa de anestesiología, y la atención multidisciplinaria en las instalaciones de hospitales terciarios son cruciales para evitar complicaciones


Brugada Syndrome (BrS) is a rare and high risk condition, seldom encountered in the delivery room. Pregnant patients with BrS benefit from the lowest possible doses of arrhythmogenic drugs such as local anesthetics. Based on this premise, the following case report exposes how a subarachnoid approach might be a desirable technique in C-section procedures for BrS patients. Pain and anxiety management are priorities in this specific population. Peri-partum planning, with a previous anesthesiology appointment and mutidisciplinary care in tertiary hospital facilities are crucial to avoid complications


Assuntos
Humanos , Feminino , Gravidez , Adulto , Síndrome de Brugada/complicações , Cesárea/métodos , Anestesia Obstétrica/métodos , Espaço Subaracnóideo/efeitos dos fármacos , Dor do Parto/tratamento farmacológico , Anestésicos/administração & dosagem , Manejo da Dor/métodos , Arritmias Cardíacas/prevenção & controle , Fatores de Risco
16.
Pediatrics ; 144(1)2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-31189615

RESUMO

This is the case of a 9-year-old girl who initially presents with episodes of syncope and potentially concerning family history. An extensive evaluation is unrevealing, and she appears to have simple benign autonomic dysfunction. Eventually, a rare and life-threatening disease is uncovered, and she receives appropriate treatment. The case report highlights the persistence and suspicion of the managing providers that ultimately allowed the diagnosis to be revealed as well as some of the key features of the underlying disease.


Assuntos
Síndrome de Brugada/diagnóstico , Síncope/etiologia , Síndrome de Brugada/complicações , Criança , Diagnóstico Diferencial , Feminino , Humanos
17.
Rev. Soc. Cardiol. Estado de Säo Paulo ; 29(Suppl. 2b): 221-221, Jun. 2019.
Artigo em Português | Sec. Est. Saúde SP, SESSP-IDPCPROD, Sec. Est. Saúde SP | ID: biblio-1010327

RESUMO

INTRODUÇÃO: A Síndrome de Brugada é uma cardiopatia de origem genética (autossômica dominante) que predispõe a arritmias ventriculares que podem ser fatais. É provocada geralmente por uma mutação do gene SCN5A. Tem especial prevalência em indivíduos adultos e do sexo masculino. Também ocorre com mais frequência em indivíduos de origem asiática. Pode provocar morte súbita (através de taquicardia ventricular polimórfica), principalmente em indivíduos em repouso ou durante o sono. Em raras descrições na literatura, há relatos de mutação do gene CACNA1C como causador da síndrome. DESCRIÇÃO: Indivíduo do sexo masculino, nascido em 1954, hipertenso, dislipidêmico, tabagista, histórico familiar rico em morte súbita (mãe, irmãos e tios maternos, todos durante o sono). Encaminhado ao serviço em 2009 para estratificação de risco de morte súbita. Apresentava dor torácica tipo angina. Coronariografia apenas demonstrou lesão de 20% em artéria circunflexa. Eletrocardiograma com padrão típico de Síndrome de Brugada (tipo 1). Submetido a Estudo Eletrofisiológico no mesmo ano, sendo induzida Fibrilação Ventricular com um único extraestímulo em ápice de ventrículo direito. Indicado então implante de Cardioversor Desfibrilador Implantável (CDI). Medicado para doença coronariana, manteve-se assintomático do ponto de vista cardiovascular e permanece desta forma até hoje. Em 2017 obtivemos sua análise genética, evidenciando mutação no gene CACNA1C (que é mais descrita como causadora da síndrome de QT Longo tipo 8 ou Síndrome de Timothy). Sua última avaliação ambulatorial foi em janeiro de 2019, onde se encontrava estável clinicamente, sem registros de terapias do CDI, mantendo eletrocardiograma típico de Síndrome de Brugada. CONCLUSÕES: Descrevemos um caso raro de Síndrome de Brugada causada pela mutação no gene CACNA1C. (AU)


Assuntos
Humanos , Síndrome de Brugada , Genes
18.
Prog Cardiovasc Dis ; 62(3): 227-234, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31078562

RESUMO

Sudden cardiac death (SCD) accounts for 230,000 to 350,000 deaths per year in the United States. While many who suffer SCD possess underlying structural heart disease, inherited arrhythmia syndromes are also important contributors to SCD. In patients without structural heart disease, inherited arrhythmia syndromes are identified in >50% of the remaining patients. In this review, we will focus on the presentation and management of three major inherited syndromes that lead to SCD in patients without structural heart disease: long QT syndrome (LQTS), Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia (CPVT). All these syndromes can present in patients who are asymptomatic or, at the other extreme, with syncope and even SCD. LQTS syndrome and Brugada are the most common inherited arrhythmogenic syndromes, while CPVT is much rarer. Determining which patients need pharmacologic treatment and those who would benefit from more aggressive treatment such as sympathectomies and implantable defibrillators is not always clear.


Assuntos
Síndrome de Brugada , Morte Súbita Cardíaca/etiologia , Síndrome do QT Longo , Taquicardia Ventricular , Síndrome de Brugada/complicações , Síndrome de Brugada/diagnóstico , Síndrome de Brugada/terapia , Desfibriladores Implantáveis , Eletrocardiografia , Humanos , Síndrome do QT Longo/complicações , Síndrome do QT Longo/diagnóstico , Síndrome do QT Longo/terapia , Medição de Risco , Taquicardia Ventricular/complicações , Taquicardia Ventricular/diagnóstico , Taquicardia Ventricular/terapia
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