RESUMO
OBJECTIVE: This study aimed to provide a long-term follow-up of PRKAG2 syndrome and describe the new phenotypic aspects of the condition. PRKAG2 syndrome is a rare autosomal-dominant glycogen storage disease characterized by cardiac hypertrophy, ventricular pre-excitation, and conduction system disease. Fatal arrhythmias occur frequently. METHODS: A family cohort of 66 participants was recruited. Clinical and genetic analyses were performed. RESULTS: Median age of 36.97±17.28 years, with 69.9% being men. Nineteen subjects carried the deleterious variant p.K290I of the PRKAG2 gene. This group experienced many malignant events, including eight pacemaker implants, three sudden cardiac deaths, five aborted cardiac arrests, four strokes, four premature neonatal deaths, two spontaneous abortions, five forceps deliveries, and 12 cesarean procedures. Extracardiac involvement, such as in neurocognitive and psychiatric disorders, has been observed only in carriers of mutations. Palpitations, Syncope, atrial fibrillation, atrial flutter, sinus pauses, and bradycardia were strongly and significantly associated with major or severe adverse events (sudden cardiac death, aborted cardiac arrest, pacemaker use, stroke, and congestive heart failure). Early diagnosis and intervention through antiarrhythmic drugs, anticoagulation, pacemaker implantation, radiofrequency catheter ablation, and cesarean section surgery improved the symptoms and survival rates. Mutations carriers were advised to avoid pregnancy. CONCLUSION: This study identified that the p.K291I_PRKAG2 mutation is associated with poor prognosis, highlighting the need for early intervention. Further research may uncover the potential connections between intellectual disability, miscarriage, and neonatal death in individuals with this syndrome.
Assuntos
Cardiomiopatia Hipertrófica , Humanos , Feminino , Masculino , Adulto , Seguimentos , Adulto Jovem , Pessoa de Meia-Idade , Cardiomiopatia Hipertrófica/genética , Cardiomiopatia Hipertrófica/complicações , Brasil/epidemiologia , Adolescente , Mutação , Proteínas Quinases Ativadas por AMP/genética , Fenótipo , Criança , Arritmias Cardíacas/genética , Arritmias Cardíacas/etiologia , Síndrome , IdosoRESUMO
ABSTRACT Objective This study aimed to provide a long-term follow-up of PRKAG2 syndrome and describe the new phenotypic aspects of the condition. PRKAG2 syndrome is a rare autosomal-dominant glycogen storage disease characterized by cardiac hypertrophy, ventricular pre-excitation, and conduction system disease. Fatal arrhythmias occur frequently. Methods A family cohort of 66 participants was recruited. Clinical and genetic analyses were performed. Results Median age of 36.97±17.28 years, with 69.9% being men. Nineteen subjects carried the deleterious variant p.K290I of the PRKAG2 gene. This group experienced many malignant events, including eight pacemaker implants, three sudden cardiac deaths, five aborted cardiac arrests, four strokes, four premature neonatal deaths, two spontaneous abortions, five forceps deliveries, and 12 cesarean procedures. Extracardiac involvement, such as in neurocognitive and psychiatric disorders, has been observed only in carriers of mutations. Palpitations, Syncope, atrial fibrillation, atrial flutter, sinus pauses, and bradycardia were strongly and significantly associated with major or severe adverse events (sudden cardiac death, aborted cardiac arrest, pacemaker use, stroke, and congestive heart failure). Early diagnosis and intervention through antiarrhythmic drugs, anticoagulation, pacemaker implantation, radiofrequency catheter ablation, and cesarean section surgery improved the symptoms and survival rates. Mutations carriers were advised to avoid pregnancy. Conclusion This study identified that the p.K291I_PRKAG2 mutation is associated with poor prognosis, highlighting the need for early intervention. Further research may uncover the potential connections between intellectual disability, miscarriage, and neonatal death in individuals with this syndrome.
RESUMO
In the current scenario of the COVID-19 pandemic, Brazilian states and municipalities have adopted social distancing measures as a strategy to reduce the number of cases and control the disease. These measures affect populations and territories differently. This study aims to analyze the trend of social distancing in this pandemic and its relationship with the context of living conditions in Salvador, Bahia, Brazil. An ecological study with spatial distribution was conducted. The municipality's Social Distancing Index and the Living Conditions Index were calculated. Global and Local Moran Indices were employed to assess the degree of spatial dependence and autocorrelation. Fluctuations were observed in the social distancing levels during the analyzed period, with higher distancing percentages in neighborhoods with more favorable living conditions. The analysis and interpretation of COVID-19 containment measures, such as social distancing, should consider the profile of local vulnerability of each territory for the correct dimensioning of pandemic mitigation strategies from the perspective of developing social actions enabling greater adherence of the most impoverished populations.
Assuntos
Infecções por Coronavirus/epidemiologia , Pneumonia Viral/epidemiologia , Condições Sociais , Isolamento Social , Brasil/epidemiologia , COVID-19 , Cidades , Infecções por Coronavirus/prevenção & controle , Humanos , Pandemias/prevenção & controle , Pneumonia Viral/prevenção & controle , Análise Espacial , Populações VulneráveisRESUMO
Resumo Na pandemia COVID-19, estados e municípios brasileiros adotaram medidas de distanciamento social como estratégia para reduzir o número de casos e o controle da doença. Estas medidas atingem de forma diferenciada estratos populacionais e território. O objetivo deste estudo foi analisar a evolução do distanciamento social adotadas para o controle da pandemia COVID-19 e sua relação com as condições de vida da população do município de Salvador, Bahia. Foi conduzido um estudo ecológico utilizando agregados espaciais. Calculou-se o Índice de Isolamento Social do município e o Índice de Condição de Vida. O Índice de Moran Global e Local foram usados para avaliar o grau de dependência e autocorrelação espacial. Observou-se oscilações nos índices de isolamento social durante o período analisado, com maiores percentuais de isolamento nos bairros com condições de vida mais favoráveis. A análise e a interpretação das medidas de contenção da Covid-19, a exemplo do distanciamento social, deve considerar o perfil de vulnerabilidade de cada território visando a monitorar o correto dimensionamento das estratégias de mitigação da pandemia, na perspectiva de desenvolver ações sociais capazes de possibilitar maior adesão das populações mais desfavorecidas.
Abstract In the current scenario of the COVID-19 pandemic, Brazilian states and municipalities have adopted social distancing measures as a strategy to reduce the number of cases and control the disease. These measures affect populations and territories differently. This study aims to analyze the trend of social distancing in this pandemic and its relationship with the context of living conditions in Salvador, Bahia, Brazil. An ecological study with spatial distribution was conducted. The municipality's Social Distancing Index and the Living Conditions Index were calculated. Global and Local Moran Indices were employed to assess the degree of spatial dependence and autocorrelation. Fluctuations were observed in the social distancing levels during the analyzed period, with higher distancing percentages in neighborhoods with more favorable living conditions. The analysis and interpretation of COVID-19 containment measures, such as social distancing, should consider the profile of local vulnerability of each territory for the correct dimensioning of pandemic mitigation strategies from the perspective of developing social actions enabling greater adherence of the most impoverished populations.