ABSTRACT
Abstract Objective: Mucopolysaccharidosis is a rare genetic disease characterized by the intralysosomal deposition of glycosaminoglycans. Cardiovascular impairment is a common feature. Cardiac signs and symptoms are underestimated due to the disease involvement in other organs. Enzyme replacement therapy can be used in mucopolysaccharidosis I, II, IV, and VI. Thus, the knowledge about the use of new echocardiography tools is relevant to improve the care of this population. This study aimed to describe left ventricular function assessment by conventional echocardiography and left ventricular global longitudinal strain analysis and compare the alterations in patients receiving enzyme replacement therapy and who had different ages at the start of therapy. Method: Outpatient-based descriptive study. The patients were submitted to conventional echocardiography and left ventricular global longitudinal strain measurement. Results: Sixteen patients were evaluated; median age of 14.2 years (SD = 5.2 years). Left ventricular hypertrophy was found in nine patients (56.2%). All patients had preserved left ventricular systolic function (Simpson and Teichholz). Nine (56.2%) patients showed alterations in left ventricular global longitudinal strain. The study showed a positive association between left ventricular hypertrophy and alteration in the left ventricular global longitudinal strain, and late start of enzyme replacement therapy and alteration in the left ventricular global longitudinal strain. Conclusion: Echocardiographic alterations in patients with mucopolysaccharidosis were frequently observed, especially alterations in the left ventricular geometry and subclinical dysfunction. Patients who had a late enzyme replacement therapy start showed an association with worse left ventricular global longitudinal strain values, reinforcing the need for early diagnosis and treatment. The use of new echocardiographic tools may improve the follow-up of these patients.
Resumo Objetivo: A mucopolissacaridose é uma doença genética rara, caracterizada por depósito intralisossômico de glicosaminoglicanos. O comprometimento cardiovascular é frequente. Sinais e sintomas cardíacos são subestimados pelo envolvimento da doença em outros órgãos. A terapia de reposição enzimática pode ser usada em mucopolissacaridose I, II, IV e VI. Assim, o conhecimento da aplicação de novas ferramentas de ecocardiografia é relevante para melhorar a assistência dessa população. Este estudo visou descrever a função do ventrículo esquerdo pelo ecocardiograma convencional e pela análise do strain global longitudinal do ventrículo esquerdo e comparar as alterações em pacientes que fazem uso da terapia de reposição enzimática e que tiveram idades distintas de início da terapia. Método: Estudo descritivo de base ambulatorial. Os pacientes foram submetidos à ecocardiografia convencional e medida do strain global longitudinal do ventrículo esquerdo. Resultados: Foram avaliados 16 pacientes; mediana de 14,2 anos (desvio: 5,2 anos). Hipertrofia do ventrículo esquerdo foi encontrada em nove pacientes (56,2%). Todos os pacientes tiveram função sistólica do ventrículo esquerdo preservada (Simpson e Teichholz). Nove (56,2%) pacientes apresentaram alteração no strain global longitudinal do ventrículo esquerdo. O estudo mostrou associação positiva entre hipertrofia do ventrículo esquerdo e alteração no strain global longitudinal do ventrículo esquerdo e início tardio da terapia de reposição enzimática e alteração no strain global longitudinal do ventrículo esquerdo. Conclusão: Alterações ecocardiográficas em pacientes com mucopolissacaridose foram frequentes, especialmente alterações na geometria e disfunção subclínica do ventrículo esquerdo. Pacientes que iniciaram tardiamente a terapia de reposição enzimática apresentaram associação com piores valores de strain global longitudinal do ventrículo esquerdo, o que reforça a necessidade do diagnóstico e tratamento precoces. O uso de novas ferramentas de ecocardiografia pode melhorar o acompanhamento desses pacientes.
Subject(s)
Humans , Male , Female , Child , Adolescent , Mucopolysaccharidoses/complications , Ventricular Dysfunction, Left/etiology , Ventricular Dysfunction, Left/diagnostic imaging , Myocardium/pathology , Echocardiography/methods , Cross-Sectional Studies , Mucopolysaccharidoses/drug therapy , Ventricular Dysfunction, Left/physiopathology , Ventricular Dysfunction, Left/drug therapy , Enzyme Replacement TherapyABSTRACT
OBJETIVO: Conhecer as tendências temporais dos indicadores de mortalidade geral e morbidade hospitalar por doença diarreica em crianças menores de um ano e de um a quatro anos, conforme as regiões brasileiras, entre 2000 e 2010. MÉTODO: Estudo ecológico de séries temporais. Os dados sobre Autorização de Internação Hospitalar, média de permanência e valor médio dessa autorização foram obtidos do Sistema de Informações Hospitalares; o número de óbitos infantis foi adquirido no Sistema de Informações sobre Mortalidade; as informações sobre os nascidos vivos e a população geral foram obtidas do Sistema de Informações sobre Nascidos Vivos e dos Censos Demográficos, respectivamente. Dados disponíveis no endereço eletrônico do Departamento de Informática do Sistema Único de Saúde/Ministério da Saúde. RESULTADOS: A mortalidade por diarreia no Brasil evidenciou tendência de decréscimo desacelerado em ambas as faixas etárias. Quanto à hospitalização, houve tendência decrescente discreta nos menores de um ano e ascendência insignificante entre 1-4 anos, entretanto, com menor permanência e valor médio de internamento, independentemente da idade e da região. Registraram-se no Norte e Nordeste os maiores coeficientes de mortalidade e maior porcentagem de internação nos menores de um ano. O Centro-Oeste apresentou maior redução média anual do tempo de permanência hospitalar. CONCLUSÃO: Atualmente, os indicadores de mortalidade geral e morbidade hospitalar por diarreia em crianças brasileiras encontram-se, de forma geral, mais baixos, porém lentamente decrescentes.
OBJECTIVE: To verify the temporal trends of the indicators of overall mortality and hospital morbidity due to diarrheal disease in children younger than 1 year and between 1 and 4 years, according to the region of Brazil, between 2000 and 2010. METHOD: This was an ecological study of temporal series. Data on hospital admission authorization, mean length of stay, and mean value of the authorization were obtained from the Hospital Information System. The number of infant deaths was obtained from the Mortality Information System; information on live births and the general population were obtained from the Information System on Live Births and Demographic Censuses, respectively. These data were available at the website of the informatics department of the Brazilian Unified Health System/Ministry of Health. RESULTS:Mortality due to diarrheal disease in Brazil showed a downwards trend in both age groups. Regarding hospitalization, there was a slight downwards trend in children younger than 1 year and a non-significant upwards trend between 1-4 years, with a shorter hospital stay and lower mean value of hospital stay, regardless of age and region. The North and Northeast had the highest mortality rates and the highest percentage of hospitalizations in children younger than 1 year. The Midwest had the highest mean annual reduction in hospital stay. CONCLUSION: Currently, the indicators of overall mortality and hospital morbidity due to diarrhea in Brazilian children are generally lower, but decreasing slowly.
Subject(s)
Child, Preschool , Humans , Infant , Diarrhea/mortality , Hospital Mortality/trends , Length of Stay/statistics & numerical data , Brazil/epidemiology , Length of Stay/economics , Residence Characteristics/statistics & numerical data , Time FactorsABSTRACT
OBJECTIVE: The individual components of metabolic syndrome may be independent predictors of mortality in patients with liver disease. We aimed to evaluate the prevalence of metabolic syndrome and its related components in hepatitis C virus-infected patients who are not obese and do not have type 2 diabetes. METHODS: This cross-sectional study included 125 patients infected with hepatitis C virus genotype 1. Metabolic syndrome was defined according to the International Diabetes Federation. Anthropometric data were measured according to standardized procedures. Bioimpedance analysis was performed on all patients. RESULTS: Metabolic syndrome was diagnosed in 21.6% of patients. Of the subjects with metabolic syndrome, 59.3% had hypertension, 77.8% had insulin resistance, 85.2% were overweight, 48.1% had a high waist circumference, 85.2% had an increased body fat percentage, and 92.3% had an elevated waist:hip ratio. In the bivariate analysis, female sex (OR 2.58; 95% CI: 1.09-6.25), elevated gamma-glutamyl transferase (γGT) (OR 2.63; 95% CI: 1.04-7.29), elevated fasting glucose (OR 8.05; 95% CI: 3.17-21.32), low HDL cholesterol (OR 2.80; 95% CI: 1.07-7.16), hypertriglyceridemia (OR 7.91; 95% CI: 2.88-22.71), elevated waist circumference (OR 10.33; 95% CI: 3.72-30.67), overweight (OR 11.33; 95% CI: 3.97-41.07), and increased body fat percentage (OR 8.34; 95% CI: 2.94-30.08) were independent determinants of metabolic syndrome. Using the final multivariate regression model, similar results were observed for abdominal fat (OR 9.98; 95% CI: 2.63-44.41) and total body fat percentage (OR 8.73; 95% CI: 2.33-42.34). However, metabolic syndrome risk was also high for those with blood glucose >5.55 mmol/L or HDL cholesterol <0.9 mmol/L (OR 16.69; 95% CI: 4.64-76.35; OR 7.23; 95% CI: 1.86-32.63, respectively). CONCLUSION: Metabolic syndrome is highly prevalent among hepatitis C virus-infected patients without type 2 diabetes or obesity. Metabolic syndrome was significantly associated with hypertension, insulin resistance, increased abdominal fat, and overweight.