Cranial Nerve Thinning Distinguishes RFC1-Related Disorder from Other Late-Onset Ataxias.

BACKGROUND: RFC1-related disorder (RFC1/CANVAS) shares clinical features with other late-onset ataxias, such as spinocerebellar ataxias (SCA) and multiple system atrophy cerebellar type (MSA-C). Thinning of cranial nerves V (CNV) and VIII (CNVIII) has been reported in magnetic resonance imaging (MRI) scans of RFC1/CANVAS, but its specificity remains unclear. OBJECTIVES: To assess the usefulness of CNV and CNVIII thinning to differentiate RFC1/CANVAS from SCA and MSA-C. METHODS: Seventeen individuals with RFC1/CANVAS, 57 with SCA (types 2, 3 and 6), 11 with MSA-C and 15 healthy controls were enrolled. The Balanced Fast Field Echo sequence was used for assessment of cranial nerves. Images were reviewed by a neuroradiologist, who classified these nerves as atrophic or normal, and subsequently the CNV was segmented manually by an experienced neurologist. Both assessments were blinded to patient and clinical data. Non-parametric tests were used to assess between-group comparisons. RESULTS: Atrophy of CNV and CNVIII, both alone and in combination, was significantly more frequent in the RFC1/CANVAS group than in healthy controls and all other ataxia groups. Atrophy of CNV had the highest sensitivity (82%) and combined CNV and CNVIII atrophy had the best specificity (92%) for diagnosing RFC1/CANVAS. In the quantitative analyses, CNV was significantly thinner in the RFC1/CANVAS group relative to all other groups. The cutoff CNV diameter that best identified RFC1/CANVAS was ≤2.2 mm (AUC = 0.91; sensitivity 88.2%, specificity 95.6%). CONCLUSION: MRI evaluation of CNV and CNVIII using a dedicated sequence is an easy-to-use tool that helps to distinguish RFC1/CANVAS from SCA and MSA-C.

Nigrostriatal dysfunction in RFC1-related disorder/CANVAS.

INTRODUCTION: Parkinsonism is now recognized as an additional feature in RFC1/CANVAS syndrome; however, no systematic evaluation of nigrostriatal dopaminergic function has been published so far. METHODS: This is an observational, single-center study, which analyzed 13 patients with molecular confirmation of RFC1/CANVAS. Disease severity was assessed with the SARA scale. Each subject was carefully evaluated for the presence of parkinsonian features. Dopamine transporter (DAT) imaging was acquired and reconstructed in the transverse, coronal and sagittal planes 4 h after venous injection of 99mTc-TRODAT-1. An experienced nuclear physician performed the visual analysis of all images. RESULTS: Patients had a mean age of 62.3 ± 8.8 years, and there were 9 women. The mean SARA score was 15.5 ± 5.8. Nine patients had abnormal DAT imaging results. The putamen was more frequently affected than the caudate nucleus on both sides. Considering all regions, uptake of 99mTc-TRODAT-1 did not correlate with disease duration or SARA scores. Parkinsonism was noticed in 3/13 patients, all of which had abnormal DAT scans. Interestingly, six subjects had reduced DAT imaging uptake, but no clinical signs of parkinsonism. CONCLUSION: Nigrostriatal dysfunction is frequent in RFC1/CANVAS even in the absence of clinical parkinsonism and may occur early in the disease course.

Treatment of oral chronic graft-versus-host disease: a retrospective cohort study.

OBJECTIVE: The aim of this study was to evaluate patients with complete response of oral chronic graft-versus-host disease to immunosuppressive treatment. METHODS: A total of 29 patients submitted to allogeneic hematopoietic stem cell transplantation, with oral chronic graft-versus-host disease, were enrolled in this retrospective study, from September 2012 to February 2018. Patients were treated with combined topical dexamethasone solution and topical tacrolimus ointment, combined topical dexamethasone and topical tacrolimus, systemic immunosuppressive medication, and topical dexamethasone only. RESULTS: The mean time of complete response of lichenoid lesions, erythema, and ulcers using dexamethasone and systemic immunosuppressive medication was of 105, 42 and 42 days, respectively (p=0.013).When we associated dexamethasone, tacrolimus and systemic immunosuppressive medication, the mean time of complete response of lichenoid lesions, erythema and ulcers was of 91,84 and 77 days (p=0.011). When dexamethasone was used alone, the mean time of complete response of lichenoid lesions, erythema and ulcers was 182, 140, 21 days, respectively (p=0.042). CONCLUSION: Our study shows that lichenoid lesions require more time to heal. Notably, lichenoid lesions tend to respond better to dexamethasone combined with tacrolimus and systemic immunosuppressive medication, whereas erythema and ulcers respond better to dexamethasone combined with systemic immunosuppressive medication and dexamethasone only, respectively.

Treatment of oral chronic graft-versus-host disease: a retrospective cohort study / Tratamento da doença do enxerto contra hospedeiro crônica oral: um estudo de coorte retrospectivo

ABSTRACT Objective The aim of this study was to evaluate patients with complete response of oral chronic graft-versus-host disease to immunosuppressive treatment. Methods A total of 29 patients submitted to allogeneic hematopoietic stem cell transplantation, with oral chronic graft-versus-host disease, were enrolled in this retrospective study, from September 2012 to February 2018. Patients were treated with combined topical dexamethasone solution and topical tacrolimus ointment, combined topical dexamethasone and topical tacrolimus, systemic immunosuppressive medication, and topical dexamethasone only. Results The mean time of complete response of lichenoid lesions, erythema, and ulcers using dexamethasone and systemic immunosuppressive medication was of 105, 42 and 42 days, respectively (p=0.013).When we associated dexamethasone, tacrolimus and systemic immunosuppressive medication, the mean time of complete response of lichenoid lesions, erythema and ulcers was of 91,84 and 77 days (p=0.011). When dexamethasone was used alone, the mean time of complete response of lichenoid lesions, erythema and ulcers was 182, 140, 21 days, respectively (p=0.042). Conclusion Our study shows that lichenoid lesions require more time to heal. Notably, lichenoid lesions tend to respond better to dexamethasone combined with tacrolimus and systemic immunosuppressive medication, whereas erythema and ulcers respond better to dexamethasone combined with systemic immunosuppressive medication and dexamethasone only, respectively.

RESUMO Objetivo Avaliar os pacientes com resposta completa da doença do enxerto contra hospedeiro crônica oral ao tratamento com imunossupressor. Métodos Vinte e nove pacientes submetidos ao transplante alogênico de células tronco hematopoiéticas, com doença do enxerto contra hospedeiro crônica oral, foram incluídos neste estudo retrospectivo, de setembro de 2012 a fevereiro de 2018. Os pacientes foram tratados com dexametasona para bochecho associada ao tacrolimo pomada, dexametasona para bochecho associada ao tacrolimo tópico, tratamento imunossupressor sistêmico, e dexametasona tópica apenas. Resultados O tempo médio para resposta completa das lesões liquenoides, eritema e ulcerações usando dexametasona e imunossupressor sistêmico foi de 105, 42 e 42 dias, respectivamente (p=0,013). Quando a dexametasona estava associada ao tacrolimo e a medicação imunossupressora sistêmica, o tempo médio para resposta completa das lesões liquenóides, eritema e ulcerações foi de 91, 84 e 77 dias (p=0,011). Quando foi utilizada apenas dexametasona, o tempo médio para resposta completa das lesões liquenoides, eritema e ulcerações foi de 182, 140 e 21 dias, respectivamente (p=0,042). Conclusão Nosso estudo mostra que as lesões liquenoides requerem mais tempo para cicatrização completa. É notável que as lesões liquenoides tendem a responder melhor ao tratamento da dexametasona combinada com o tacrolimo e o imunossupressor sistêmico. Já o eritema e as ulcerações respondem melhor à dexametasona combinada com medicação imunossupressora sistêmica, e dexametasona apenas, respectivamente.

Predictors of readmission and long length of stay in elders admitted with neurological disorders in a tertiary center: a real-world investigation.

OBJECTIVE: Hospital readmission and long length of stay (LOS) increase morbidity and hospital mortality and are associated with excessive costs to health systems. This study aimed to identify predictors of hospital readmission and long LOS among elders with neurological disorders (NDs). METHODS: Patients ≥ 60 years of age admitted to the hospital between January 1, 2009, and December 31, 2010, with acute NDs, chronic NDs as underpinnings of acute clinical disorders, and neurological complications of other diseases were studied. We analyzed demographic factors, NDs, and comorbidities as independent predictors of readmission and long LOS (≥ 9 days). Logistic regression was performed for multivariate analysis. RESULTS: Overall, 1,154 NDs and 2,679 comorbidities were identified among 798 inpatients aged ≥ 60 years (mean 75.8 ± 9.1). Of the patients, 54.5% were female. Patient readmissions were 251(31%) and 409 patients (51%) had an LOS ≥ 9 days (95% confidence interval 48%-55%). We found no predictors for readmission. Low socioeconomic class (p = 0.001), respiratory disorder (p < 0.001), infection (p < 0.001), genitourinary disorder (p < 0.033), and arterial hypertension (p = 0.002) were predictors of long LOS. Identified risks of long LOS explained 22% of predictors. CONCLUSIONS: Identifying risk factors for patient readmission are challenges for neurology teams and health system stakeholders. As low socioeconomic class and four comorbidities, but no NDs, were identified as predictors for long LOS, we recommend studying patient multimorbidity as well as functional and cognitive scores to determine whether they improve the risk model of long LOS in this population.

Predictors of readmission and long length of stay in elders admitted with neurological disorders in a tertiary center: a real-world investigation / Preditores de readmissão hospitalar e de longo tempo de internação em idosos admitidos com doenças neurológicas em centro terciário: uma investigação no mundo real

ABSTRACT Hospital readmission and long length of stay (LOS) increase morbidity and hospital mortality and are associated with excessive costs to health systems. Objective: This study aimed to identify predictors of hospital readmission and long LOS among elders with neurological disorders (NDs). Methods: Patients ≥ 60 years of age admitted to the hospital between January 1, 2009, and December 31, 2010, with acute NDs, chronic NDs as underpinnings of acute clinical disorders, and neurological complications of other diseases were studied. We analyzed demographic factors, NDs, and comorbidities as independent predictors of readmission and long LOS (≥ 9 days). Logistic regression was performed for multivariate analysis. Results: Overall, 1,154 NDs and 2,679 comorbidities were identified among 798 inpatients aged ≥ 60 years (mean 75.8 ± 9.1). Of the patients, 54.5% were female. Patient readmissions were 251(31%) and 409 patients (51%) had an LOS ≥ 9 days (95% confidence interval 48%-55%). We found no predictors for readmission. Low socioeconomic class (p = 0.001), respiratory disorder (p < 0.001), infection (p < 0.001), genitourinary disorder (p < 0.033), and arterial hypertension (p = 0.002) were predictors of long LOS. Identified risks of long LOS explained 22% of predictors. Conclusions: Identifying risk factors for patient readmission are challenges for neurology teams and health system stakeholders. As low socioeconomic class and four comorbidities, but no NDs, were identified as predictors for long LOS, we recommend studying patient multimorbidity as well as functional and cognitive scores to determine whether they improve the risk model of long LOS in this population.

RESUMO Readmissão hospitalar e tempo longo de internação aumentam a morbidade, a mortalidade hospitalar e estão associados a custos excessivos para os sistemas de saúde. Objetivo: Este estudo almejou identificar preditores de readmissões hospitalares e longo tempo de internação (TDI) entre idosos com doenças neurológicas (DN). Métodos: Pacientes de idade ≥ 60 anos admitidos no hospital entre 1 de janeiro de 2009 e 31 de dezembro de 2010 com DN aguda, DN crônica subjacente a transtorno clínico agudo e complicações neurológicas de outras doenças foram estudados. Nos analisamos fatores demográficos, DN e comorbidades como preditores independentes de readmissão hospitalar e TDI (≥ 9 dias). Utilizamos regressão logística para analise multivariada. Resultados: Um total de 1154 DN e 2679 comorbidades foram identificadas entre 798 pacientes com idade ≥ 60 anos (media 75.8 ± 9.1). Desses pacientes 54.5% foram mulheres. Foram 251(31%) readmissões de pacientes e 409 (51%) dos pacientes tiveram um TDI≥9 dias (intervalo de confiança 95%, 48%-55%). Não encontramos preditores para readmissões. Baixa classe social (p = 0,001), distúrbio respiratório (p < 0,001), infecção (p < 0,001), distúrbio genito-urinário (p = 0,033) e hipertensão arterial (p = 0,002) foram os preditores de longo tempo de internação. Esses fatores de risco compõem 22% dos preditores para longo TDI. Conclusões: A identificação de fatores de risco para readmissão hospitalar é um desafio para equipes neurológicas e gestores dos sistemas de saúde. Conquanto baixa classe social e 4 comorbidades, todavia nenhuma DN, foram identificadas como preditoras para longo TDI nós recomendamos investigar multimorbidade, escores funcionais e cognitivos para saber se eles melhoram o modelo de risco para longo TDI nesta população.

Concepções Psicossociais acerca do Conhecimento sobre a AIDS das Pessoas que Vivem com o HIV / Psychosocial Perceptions of Persons with HIV about Knowledge of AIDS / Concepciones psicosociales sobre el conocimiento del SIDA de las personas que viven con VIH

Resumo A presente pesquisa teve como objetivo principal identificar as concepções psicossociais acerca do conhecimento sobre a AIDS por parte de pessoas que convivem com o Hiv. A amostra foi composta por 44 pessoas com o Hiv de ambos os se xos, com idades variando de 23 a 67 anos, e que estavam em acompanhamento no Centro de Testagem e Aconselhamento (OTA). Foram utilizados para a coleta dos dados, um questionário sócio demográfico e uma pergunta semiestruturada. No geral, os resultados apontaram que a AIDS para eles é uma doença contagiosa, sem cura e que traz muito preconceito, e o nível de conhecimento a respeito da AIDS é ambivalente.

Summary The principle aim of this study was to identify the psychosocial perception towards AIDS held by persons with HIV. The sample was composed of 44 persons of both sexes between the ages of 23 and 67 who carried the virus and were being monitored by the Testing and Advisory Center (CTA, acronym in Portuguese). We collected data using a sociodemo-graphic questionnaire and a semi-structured interview. In general, the results indicated that these persons regard AIDS as a contagious disease, without cure and giving rise to many prejudices. Similarly, they see that the level of knowledge of AIDS is ambivalent.

Resumen Esta investigación tuvo como objetivo principal identificar las concepciones psicosociales sobre el SIDA que tienen las personas que conviven con el VIH. La muestra estuvo compuesta por 44 sujetos de ambos sexos portadores del virus, con edades entre los 23 y los 67 años, quienes estaban en seguimiento en el Centro de Pruebas y Asesoramiento (CPA). Para la recolección de datos fueron utilizados un cuestionario sociodemográfico y una entrevista semiestructurada. En general, los resultados apuntaron a que el SIDA es considerado por ellos como una enfermedad contagiosa, sin cura y que da lugar a muchos prejuicios. Del mismo modo, se reconoce que el nivel de conocimiento acerca del SIDA es ambivalente.

Diagnóstico diferencial das manifestações das sífilis e da Aids com líquen plano na boca: relato de caso / Differential diagnosis of manifestations of syphilis and Aids with lichen planus in mouth: case report

A sífilis segue um curso semiológico em que aparece, desaparece e ressurge com variados sinais e sintomas, exigindo dos examinadores conhecimentos clínicos e laboratoriais que os conduzam ao seu diagnóstico. A disseminação do Treponema pallidum envolve praticamente todos os sistemas orgânicos,dificultando diagnósticos e justificando a histórica consagração de que a sífilis é uma grande simuladora de várias outras doenças. A mucosa bucal é importante área sinalizadora para o reconhecimento da doença através de exame clínico sistemático e detalhado. Infelizmente, a incidência e prevalênciade sífilis no mundo não expressa sinais claros de pronunciada diminuição, sobretudo na América Latina e nos países ditos emergentes. O propósito dopresente trabalho é relatar o caso de um paciente com manifestações clínicas de sífilis e aids (síndrome da imunodeficiência adquirida) na boca, que foram primariamente interpretadas como líquen plano.

Syphilis follows a semiological course in which it appears, disappears, and reappears with various signs and symptoms, demanding clinical and laboratorial knowledge that lead to its diagnosis from examiners. The dissemination of Treponema pallidum involves practically all of the organic systems, complicating diagnosis and justifying the historic consecration that syphilis is a large simulator of various other diseases. The oral mucosa is an important signalizing areafor disease recognition by way of a systematic and detailed clinical examination. Unfortunately, the incidence and prevalence of syphilis in the world does notexpress clear signs of pronounced decrease, especially in Latin America and in the so-called emerging countries. The purpose of the present study is to report thecase of a patient with clinical oral manifestations of syphilis and aids (acquired immunodeficiency syndrome) that were primarily interpreted as lichen planus

Análise da qualidade de vida em pacientes com incapacidades funcionais decorrentes de hanseníase / Analysis of the quality of life in patients with disabilities caused of hansen’s disease

A hanseníase é uma doença infecciosa, causada pelo Mycobacterium leprae, micro-organismo que acomete principalmente a pele e os nervos. É considerada no Brasil como um problema de saúde pública, por causar incapacidades e deformidades que podem levar a alterações da qualidade de vida. Objetivou-se, neste trabalho, analisar a qualidade geral da vida dos indivíduos com hanseníase. Foi realizado um estudo transversal com 100 pacientes submetidos a tratamento no Centro de Referência Dona Libânia, independente do sexo e com idade superior a 18 anos. Foram aplicados 02 questionários: qualidade de vida SF-36 e outro abordando aspectos epidemiológicos, socioeconômicos e característica da doença. Os resultados mostraram que a metade era do sexo masculino (n=54). A média de idade de 39,2 ± 12,57, com maior prevalência entre 26 a 45 anos (n=44). Dos entrevistados, 51 tinham o primeiro grau incompleto e 91 apresentavam renda familiar de 1 a 3 salários mínimos. Na qualidade de vida, os domínios que apresentaram valores baixos foram limitação por aspecto físico, dor e aspecto emocional, quando comparado aos demais (p<0,05). Ao classificar a média dos domínios, a capacidade funcional, aspecto social e saúde mental foram enquadrados como “muito bom”. Entretanto, limitação por aspecto físico, dor, estado geral de saúde, vitalidade e aspecto emocional obtiveram perfil “bom”. Pode-se concluir que a hanseníase interfere na qualidade de vida dos pacientes, por ser uma patologia que gera incapacidades funcionais, acarretando a diminuição da atividade laboral e restrição da vida social.

Leprosy is an infectious disease caused by Mycobacterium leprae, micro-organism that primarily affects the skin and nerves. It is considered in Brazil as a public health problem, causing disabilities and deformities that can lead to changes in quality of life. The objective of this study was to analyze the overall quality of life of people with leprosy. A cross-sectional study of 100 patients undergoing treatment in a Reference Center, regardless of sex and age over 18 years was conducted. 02 questionnaires were applied: SF-36 quality of life and addressing other epidemiological, socioeconomic and characteristic of the disease. The results showed that half were male (n = 54). The mean age was 39.2 ± 12.57, with higher prevalence among 26-45 years (n = 44). Of those interviewed, 51 had incomplete first degree and 91 had a family income 1-3 times the minimum wage. Quality of life, areas that had low values ​​were limited by physical aspect, pain and emotional aspect when compared to the others (p <0.05). By classifying the average of the areas, functional capacity, social aspects and mental health they were classified as "very good". However, limited by the physical aspect, pain, general health, vitality and emotional aspect obtained Profile "good." It can be concluded that leprosy interfere with the quality of life of patients to be a condition which generates functional disability, leading to reduction in working activity and restriction of social life.