Wilson's disease in southern Brazil: a 40-year follow-up study

BACKGROUND: Long-term data on the clinical follow-up and the treatment effectiveness of Wilson's disease are limited because of the low disease frequency. This study evaluated a retrospective cohort of Wilson's disease patients from southern Brazil during a 40-year follow-up period. METHODS: Thirty-six Wilson's disease patients, diagnosed from 1971 to 2010, were retrospectively evaluated according to their clinical presentation, epidemiological and social features, response to therapy and outcome. RESULTS: Examining the patients' continental origins showed that 74.5% had a European ancestor. The mean age at the initial symptom presentation was 23.3 ± 9.3 years, with a delay of 27.5 ± 41.9 months until definitive diagnosis. At presentation, hepatic symptoms were predominant (38.9%), followed by mixed symptoms (hepatic and neuropsychiatric) (30.6%) and neuropsychiatric symptoms (25%). Kayser-Fleischer rings were identified in 55.6% of patients, with a higher frequency among those patients with neuropsychiatric symptoms (77.8%). Eighteen patients developed neuropsychiatric features, most commonly cerebellar syndrome. Neuroradiological imaging abnormalities were observed in 72.2% of these patients. Chronic liver disease was detected in 68% of the patients with hepatic symptoms. 94.2% of all the patients were treated with D-penicillamine for a mean time of 129.9 ± 108.3 months. Other treatments included zinc salts, combined therapy and liver transplantation. After initiating therapy, 78.8% of the patients had a stable or improved outcome, and the overall survival rate was 90.1%. CONCLUSION: This study is the first retrospective description of a population of Wilson's disease patients of mainly European continental origin who live in southern Brazil. Wilson's disease is treatable if correctly diagnosed, and an adequate quality of life can be achieved, resulting in a long overall survival

CORRELATION BETWEEN THE CAREGIVERS’ QUALITY OF LIFE AND FAMILY LEVELS OF FUNCTIONAL INDEPENDENCE OF CARE

The research correlated the Functional Independence level of people with neurological sequels, with thecaregivers’ Quality of Life (QOL). The Functional Independence Measure (FIM) was used with 40 subjects and the Short-Form Health Survey (SF-36) with 40 caregivers. The variables studied were not statistically significant p <0.05. Comparingthe scores of FIM with QOL, only a small correlation between functional independence and social aspects to p <0.05.Correlating QOL with levels of independence, individuals with moderate dependence showed a high correlation (Spearman)for functional capacity p <0.01, and a high correlation (Spearman) for the subjects completely dependent on for Pain andMental Health p <0.01 and General Health and Vitality p <0.05. Data show the need for a specific approach on the QOL ofcaregivers of individuals who have a complete dependence.La investigación correlacionó el nivel de Independencia Funcional de personas con secuelas de enfermedadesneurológicas con la Calidad de Vida (QV) de los cuidadores principales. Para tanto utilizó la Medida de IndependenciaFuncional (MIF) con 40 sujetos y/o Short-Form Health Survey (SF-36), con 40 cuidadores. Las variables levantadas nopresentaron significancia estadística p<0,05. Comparando la puntuación de la MIF con la QV, apenas una pequeñacorrelación entre Independencia funcional y aspectos sociales para p<0,05. Correlacionando la QV con los niveles deIndependencia, para los sujetos con moderada dependencia presentó una alta correlación (Spearman) para CapacidadFuncional p<0,01 y, para los sujetos completamente dependientes una alta correlación (Spearman) para Dolor y SaludMental p<0,01 y para Estado General de la Salud y Vitalidad p<0,05. Los datos muestran la necesidad de un abordajeespecífico sobre la QV de cuidadores de sujetos que presentan una dependencia completa.A pesquisa correlacionou o nível de Independência Funcional de pessoas com sequelas de doenças neurológicascom a Qualidade de Vida (QV) dos cuidadores principais. Para tanto, utilizou a Medida de Independência Funcional (MIF)com 40 sujeitos e o Short-Form Health Survey (SF-36) com 40 cuidadores. As variáveis levantadas não apresentaramsignificância estatística p<0,05. Comparando os escores da MIF com a QV, apenas uma pequena correlação entreindependência funcional e aspectos sociais para p<0,05. Correlacionando a QV com os níveis de independência, para ossujeitos com moderada dependência, apresentou uma alta correlação (Spearman) para Capacidade Funcional p<0,01; epara os sujeitos completamente dependentes, uma alta correlação (Spearman) para Dor e Saúde Mental p<0,01, e paraEstado Geral da Saúde e Vitalidade p<0,05. Os dados mostram a necessidade de uma abordagem específica sobre a QV decuidadores de sujeitos que apresentam uma dependência completa

Complicações neurológicas em pacientes infectados pelo SARS-CoV-2: uma revisão sistemática

Background: As the COVID-19 pandemic unfolds worldwide, different forms of reports have described its neurologic manifestations. Objective: To review the literature on neurological complications of SARS-CoV-2 infection. Methods: Literature search performed following systematic reviews guidelines, using specific keywords based on the COVID-19 neurological complications described up to May 10th, 2020. Results: A total of 43 articles were selected, including data ranging from common, non-specific symptoms, such as hyposmia and myalgia, to more complex and life-threatening conditions, such as cerebrovascular diseases, encephalopathies, and Guillain-Barré syndrome. Conclusion: Recognition of neurological manifestations of SARS-CoV-2 should be emphasized despite the obvious challenges faced by clinicians caring for critical patients who are often sedated and presenting other concurrent systemic complications.Introdução: À medida que a pandemia da COVID-19 se desenvolve em todo o mundo, diferentes tipos de publicações descreveram suas manifestações neurológicas. Objetivo: Revisar a literatura sobre complicações neurológicas da infecção por SARS-CoV-2. Métodos: A pesquisa bibliográfica foi realizada seguindo diretrizes de revisões sistemáticas, usando palavras-chave específicas baseadas nas complicações neurológicas da COVID-19 descritas até 10 de maio de 2020. Resultados: Foram selecionados 43 artigos, incluindo descrições que variam de sintomas comuns e inespecíficos, como hiposmia e mialgia, a condições mais complexas e com risco de vida, como doenças cerebrovasculares, encefalopatias e síndrome de Guillain-Barré. Conclusão: O reconhecimento das manifestações neurológicas da SARS-CoV-2 deve ser enfatizado apesar dos óbvios desafios enfrentados pelos clínicos que cuidam de pacientes críticos, muitas vezes sedados e apresentando outras complicações sistêmicas concomitantes