Nutritional status and eating habits of patients with hereditary ataxias: a case-control study.

INTRODUCTION: Hereditary Ataxias (HAs) comprise a wide spectrum of genetically determined neurodegenerative diseases with progressive ataxia as the main symptom. Few studies have evaluated nutritional profile in HA patients and most of these focused on specific ataxia subtypes. The objectives of this study were: (1) to investigate whether hereditary ataxias were associated with changes in energy expenditure, body composition and dietary intake; (2) to verify differences in these variables according to ataxia subtype, sex, age, and disease severity. METHODS: Thirty-eight hereditary ataxia patients from two neurology centers in Northeastern Brazil and 38 controls were evaluated. Body composition was assessed with bio-impedance analysis and dietary intake was estimated with a validated questionnaire (24-hour dietary recall). RESULTS: Mean body mass index (BMI) was lower in HA compared to controls (p = 0.032). Hereditary ataxia patients showed lower protein intake, higher frequency of dysphagia and higher incidence of nausea and diarrhea. The difference in average estimated caloric intake did not reach statistical significance (2359kcal ± 622 in patients × 2713kcal ± 804 in controls, p = 0.08). Disease severity measured by the SARA scale was not associated with BMI, nor was ataxia subtype (autosomal dominant × non-autosomal dominant ataxias). CONCLUSION: Hereditary ataxia patients have lower BMI compared to healthy controls. There was no difference in this cohort between dominant or non-dominant ataxia regarding BMI. Weight loss may be a common finding among hereditary ataxias and may affect the quality of life in these patients.

Aseptic meningitis in Fabry disease due to a novel GLA variant: an expanded phenotype?

BACKGROUND: F abry disease (FD) is an X-linked lysosomal storage disorder with accumulation of globotriosylceramide, causing neurologic involvement mainly as acroparesthesias and cerebrovascular disease. Aseptic meningitis has been reported in 11 patients with FD, but no prior study has correlated alpha-galactosidase (GLA) specific variants with meningitis. We present in this manuscript a family in which a novel GLA pathogenic variant was associated with aseptic meningitis in 2 of 5 family members. METHODS: This study began with identifying the proband, then screening family members for FD symptoms and evaluating symptomatic individuals for genetic and biochemical status. All patients underwent magnetic resonance imaging, and those with headache underwent cerebrospinal fluid (CSF) analysis. RESULTS: Five patients (3 females) from a single family were included in this study. Mean age at diagnosis was 20.6 years. Two patients (40%) had aseptic meningitis; one of them also had cerebrovascular events. C-reactive protein and erythrocyte sedimentation rate were elevated during aseptic meningitis episodes. Both patients responded to intravenous methylprednisolone with resolution of fever, headache, and vomiting. One of them recurred and needed chronic immunosuppression with azathioprine. CONCLUSION: We described aseptic meningitis in a family with a novel GLA variant. Meningitis might be a common phenomenon in FD and not a particularity of this variant. Understanding the mechanisms underlying meningitis and its association with cerebrovascular events may lead to a new paradigm of treatment for stroke in these patients. Further prospective studies with CSF collection in patients with FD and recurrent headache could help to elucidate this question.

Beyond the Typical Syndrome: Understanding Non-motor Features in Niemann-Pick Type C Disease.

Niemann-Pick type C (NPC) is a rare autosomal recessive disorder characterized by storage of unesterified glycolipids and cholesterol in lysosome. NPC's clinical presentation is highly heterogeneous, depending on the time of onset. It encompasses visceral, neurological, and/or psychiatric manifestations. As the motor findings are so important and devastating in this disease, there is a lack of description about non-motor symptoms, even though they play important role in quality of life of NPC patients. We described the most common non-motor findings in NPC like cognitive dysfunction, neuroimaging, psychiatric symptoms, sleep disorders, seizures, hearing problems, respiratory and other systemic features, bladder and fecal dysfunction, hypersalivation, and malnutrition. In this review, we highlighted the importance of these undervalued symptoms and their management. Specific measures of all aforementioned clinical features may work as relevant biomarkers in order to evaluate successful therapies in future clinical trials.

The effects of the healthcare line in a stroke unit: three years' experience of a center in the Northeast of Brazil.

BACKGROUND: Treatment at an organized stroke unit center (SUC) improves survival after stroke. Stroke mortality has decreased worldwide in recent decades. OBJECTIVE: This study shows the experience of a SUC in the Northeast of Brazil, comparing its first, second, and third years. METHODS: We compared data on the SUC prospectively collected from 31 July 2018 to 31 July 2019 (year 1), August 1st, 2019, to July 31st, 2020 (year 2), and August 1st to July 31st, 2021 (year 3). RESULTS: There was an expertise evolution through the years, with good outcomes in spite of the coronavirus disease 2019 pandemic in the 3rd year. Also, in the 1st year, the median (interquartile range) door-to-needle time was 39.5 (29.5-60.8) minutes evolving to 22 (17-30) minutes, and then to 17 (14-22) minutes in the last year. CONCLUSION: This was the first report on a SUC's outcome in the Brazil's Central Arid Northeast countryside, and it shows the improvement in care for patients with stroke through an effective healthcare line.

ANTECEDENTES: O tratamento em um centro organizado com Unidade de acidente vascular cerebral (AVC) melhora a sobrevida após o AVC. A mortalidade por AVC diminuiu em todo o mundo nas últimas décadas. OBJETIVO: Este estudo mostra a experiência de um centro de AVC no Nordeste brasileiro, comparando o primeiro, segundo e terceiro anos do serviço. MéTODOS: Nós comparamos dados coletados prospectivamente na Unidade de AVC de 31 de julho de 2018 a 31 de julho 2019 (ano 1), 1° de agosto de 2019 a 31 de julho de 2020 (ano 2) e 1° de agosto a 31 de julho de 2021 (ano 3). RESULTADOS: Houve uma evolução na conhecimento especializado ao longo dos anos, com bons desfechos apesar da pandemia de coronavirus disease 2019 no terceiro ano. Além disso, no primeiro ano a mediana do tempo porta­agulha foi de 39.5 (29.5­60.8) minutos, evoluindo para 22 (17­30) minutos, e então 17 (14­22) minutos no último ano. CONCLUSãO: Este foi o primeiro relato sobre o desempenho de um serviço de AVC do interior do Nordeste brasileiro e evidencia a melhoria assistencial aos pacientes com AVC por meio de uma efetiva linha de cuidado em saúde.

A case series of hereditary cerebellar ataxias in a highly consanguineous population from Northeast Brazil.

BACKGROUND: There are few studies reporting characteristics of patients with cerebellar ataxias in the Brazilian population. The aim of this study was to provide a detailed neurological description of patients with hereditary ataxia followed by a neurology outpatient service in Brazil. METHODS: Neurological and clinical evaluation of patients with hereditary ataxia was performed at a neurology service outpatient clinic of a hospital in Northeast Brazil between October 2013 and January 2015. RESULTS: A total of 47 patients had ataxia as the main symptom. A high prevalence of consanguinity was found in the population studied (40.4%). Mean age was 38.4 ±â€¯15.3 years, mean age at disease onset was 25.6 ±â€¯17.3 years, mean disease duration was 12.8 ±â€¯9.7 years, and mean score on the Scale for the Assessment and Rating of Ataxia (SARA) was 18.4 ±â€¯7.7. Patients with recessive pattern of inheritance were younger, had earlier age at disease onset and greater severity of ataxia, measured by the SARA. Diagnosis was confirmed by molecular analysis, laboratory exams or biopsy in 42.56% (n = 20) of these patients. The most prevalent diseases were: Friedreich's ataxia in 35% (n = 7), Niemann-Pick type C (NPC) in 15% (n = 3), and ataxia with oculomotor apraxia type 2 in 15% (n = 3). CONCLUSIONS: In contrast with other studies, our prevalence of recessive ataxias was much higher than that of dominant ataxias. These findings might be explained by the high number of patients living in rural areas with a higher rate of consanguineous marriages, absence of a dominant ataxia founder effect or difficult access to healthcare system.

Sleep disorders in NiemannPick disease type C, beyond cataplexy.

PURPOSE: The aim of this study was to clinically characterize sleep disorders in a cohort of Niemann-Pick type C (NPC) patients, correlating these findings with disease features and polysomnographic (PSG) results. METHODS: We evaluated eight consecutive patients with molecular confirmation of NPC followed at the Hospital Geral de Fortaleza. Patients underwent a comprehensive neurological and sleep evaluation. Four participants underwent polysomnography and then performed the multiple sleep latency test. RESULTS: All eight patients evaluated had sleep disorders. Four participants performed polysomnography followed by multiple sleep latency test. Chronic insomnia and Obstructive Sleep Apnea (OSA) were the most frequent sleep disorders (62,5%). Two patients were diagnosed with Restless Legs Syndrome (RLS) (25%) and two with probable REM sleep behavior disorder (RBD) (25%). All the patients who did polysomnography had reduced and/or disorganized sleep, with reduction on sleep efficiency, total sleep time and REM sleep time. CONCLUSION: Our results suggest that sleep abnormalities in Niemann-Pick type C patients may be more prevalent than previously thought.

Physical activity as prognostic factor for bipolar disorder: An 18-month prospective study.

INTRODUCTION: Exercise is an adjuvant therapy indicated for various psychiatric disorders. However, prospective studies in patients with bipolar disorder (BD) are scarce and with uncertain conclusions. This study aims to evaluate physical activity as a prognostic factor for BD, analyzing relationship with levels of anxiety, functionality, sleep, mood episodes and hospitalizations. METHODS: Three psychiatrists interviewed 80 BD outpatients in euthymia, referred from four different institutions in Brazil. In this moment, they evaluated the intensity of physical activities using the International Physical Activity Questionnaire (IPAQ) - short form. They reevaluated patients and reviewed medical records monthly for 18 months to identify mood episodes and psychiatric hospitalizations. RESULTS: Thirty-eight patients (47.5%) were physically inactive (or sedentary) and 42 (52.5%) active. Physically active patients had lower Body Mass Index (p = 0.006), waist circumference (p = 0.002), lower levels of anxiety (p = 0.032) and less insomnia (p = 0.001). Sedentary individuals revealed poorer global functioning (p < 0.001) and in all domains: autonomy (p < 0.001), occupational functioning (p = 0.008), cognitive functioning (p = 0.013), capacity of managing the finances (p = 0.012), interpersonal relationships (p = 0.011) and leisure time (p = 0.001). Less activity was associated with more mood episodes (p = 0.042) and psychiatric hospitalizations (p = 0.043) over 18 months. CONCLUSION: This study suggested physical activity as a good prognostic factor for BD during euthymia. This reinforces the need to encourage this practice in clinical settings. Future prospective surveys with longer duration using objective instruments are proposed.

The effects of the healthcare line in a stroke unit: three years' experience of a center in the Northeast of Brazil / Efeitos da linha de cuidado em saúde em uma unidade de AVC: três anos de experiência de um centro no nordeste do Brasil

Abstract Background Treatment at an organized stroke unit center (SUC) improves survival after stroke. Stroke mortality has decreased worldwide in recent decades. Objective This study shows the experience of a SUC in the Northeast of Brazil, comparing its first, second, and third years. Methods We compared data on the SUC prospectively collected from 31 July 2018 to 31 July 2019 (year 1), August 1st, 2019, to July 31st, 2020 (year 2), and August 1st to July 31st, 2021 (year 3). Results There was an expertise evolution through the years, with good outcomes in spite of the coronavirus disease 2019 pandemic in the 3rd year. Also, in the 1st year, the median (interquartile range) door-to-needle time was 39.5 (29.5-60.8) minutes evolving to 22 (17-30) minutes, and then to 17 (14-22) minutes in the last year. Conclusion This was the first report on a SUC's outcome in the Brazil's Central Arid Northeast countryside, and it shows the improvement in care for patients with stroke through an effective healthcare line.

Resumo Antecedentes O tratamento em um centro organizado com Unidade de acidente vascular cerebral (AVC) melhora a sobrevida após o AVC. A mortalidade por AVC diminuiu em todo o mundo nas últimas décadas. Objetivo Este estudo mostra a experiência de um centro de AVC no Nordeste brasileiro, comparando o primeiro, segundo e terceiro anos do serviço. Métodos Nós comparamos dados coletados prospectivamente na Unidade de AVC de 31 de julho de 2018 a 31 de julho 2019 (ano 1), 1° de agosto de 2019 a 31 de julho de 2020 (ano 2) e 1° de agosto a 31 de julho de 2021 (ano 3). Resultados Houve uma evolução na conhecimento especializado ao longo dos anos, com bons desfechos apesar da pandemia de coronavirus disease 2019 no terceiro ano. Além disso, no primeiro ano a mediana do tempo porta-agulha foi de 39.5 (29.5-60.8) minutos, evoluindo para 22 (17-30) minutos, e então 17 (14-22) minutos no último ano. Conclusão Este foi o primeiro relato sobre o desempenho de um serviço de AVC do interior do Nordeste brasileiro e evidencia a melhoria assistencial aos pacientes com AVC por meio de uma efetiva linha de cuidado em saúde.