22 results on '"Castilhos RM"'
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2. Guidelines for the use and interpretation of Alzheimer's disease biomarkers in clinical practice in Brazil: recommendations from the Scientific Department of Cognitive Neurology and Aging of the Brazilian Academy of Neurology.
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Studart-Neto A, Barbosa BJAP, Coutinho AM, de Souza LC, Schilling LP, da Silva MNM, Castilhos RM, Bertolucci PHF, Borelli WV, Gomes HR, Fernandes GBP, Barbosa MT, Balthazar MLF, Frota NAF, Forlenza OV, Smid J, Brucki SMD, Caramelli P, Nitrini R, Engelhardt E, and Resende EPF
- Abstract
In recent years, the diagnostic accuracy of Alzheimer's disease has been enhanced by the development of different types of biomarkers that indicate the presence of neuropathological processes. In addition to improving patient selection for clinical trials, biomarkers can assess the effects of new treatments on pathological processes. However, there is concern about the indiscriminate and poorly supported use of biomarkers, especially in asymptomatic individuals or those with subjective cognitive decline. Difficulties interpreting these tests, high costs, and unequal access make this scenario even more challenging in healthcare. This article presents the recommendations from the Scientific Department of Cognitive Neurology and Aging of the Brazilian Academy of Neurology ( Departamento Científico de Neurologia Cognitiva e Envelhecimento da Academia Brasileira de Neurologia ) regarding the rational use and interpretation of Alzheimer's disease biomarkers in clinical practice. The clinical diagnosis of cognitive-behavioral syndrome is recommended as the initial step to guide the request for biomarkers., Competing Interests: Disclosure: The authors report no conflicts of interest.
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- 2024
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3. Knowledge and attitudes about dementia of primary care physicians in Southern Brazil.
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Perin D, Ferraz L, Gonçalves MR, Chaves MLF, and Castilhos RM
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- Humans, Female, Brazil epidemiology, Male, Adult, Surveys and Questionnaires, Middle Aged, Primary Health Care, Dementia psychology, Dementia therapy, Physicians, Primary Care psychology, Health Knowledge, Attitudes, Practice, Attitude of Health Personnel
- Abstract
Background: Primary Care Physicians have a central role in assisting individuals with dementia and evaluating their preparedness to care these patients is fundamental. Our aim is to evaluate the knowledge and attitudes regarding dementia of the Primary Care Physicians (PCP) in Rio Grande do Sul (RS) state, Southern Brazil., Methods: We collected sociodemographic data, volume of patients with dementia treated/referred and perception of difficulties in caring for these patients. A previously validated questionnaire was sent: "Quiz on Knowledge and Attitudes in Dementia"., Results: From March/2022 to June/2023, 296 PCP responded to the questionnaire. They were mostly women (52.7%, 156), with a median [IQR] age of 35 [29-44] years, mostly were White (82.1%, 243) and had 7 (4-16) years of experience as a physician. Less than half of the physicians performed cognitive screening (43.9%) and Mini Mental State Examination was the most screening (63.5%) test used. The mean percentage of correct answers in the Knowledge Quiz was 46.4%. In the attitude quiz, we identified 3 factors: 1) frankly positive attitudes; 2) perceive primary care as important but have a pessimistic attitude towards them; 3) see primary care as important for patient care., Conclusion: Knowledge about dementia is low among PCP in RS; however, most have positive attitudes towards these patients or think primary care is important to these patient's care., (© 2024. The Author(s).)
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- 2024
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4. Influence of Different Diagnostic Criteria on Alzheimer Disease Clinical Research.
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Bieger A, Brum WS, Borelli WV, Therriault J, De Bastiani MA, Moreira AG, Benedet AL, Ferrari-Souza JP, Da Costa JC, Souza DO, Castilhos RM, Schumacher Schuh AF, Fagundes Chaves ML, Schöll M, Zetterberg H, Blennow K, Pascoal TA, Gauthier S, Rosa-Neto P, Schilling LP, and Zimmer ER
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- Humans, Aged, Female, Male, Aged, 80 and over, Cognitive Dysfunction diagnosis, Biomarkers, Practice Guidelines as Topic standards, Neuroimaging, Cohort Studies, Biomedical Research standards, Biomedical Research methods, Alzheimer Disease diagnosis
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Background and Objectives: Updates in Alzheimer disease (AD) diagnostic guidelines by the National Institute on Aging-Alzheimer's Association (NIA-AA) and the International Working Group (IWG) over the past 11 years may affect clinical diagnoses. We assessed how these guidelines affect clinical AD diagnosis in a cohort of cognitively unimpaired (CU) and cognitively impaired (CI) individuals., Methods: We applied clinical and biomarker data in algorithms to classify individuals from the Alzheimer's Disease Neuroimaging Initiative (ADNI) cohort according to the following diagnostic guidelines for AD: 2011 NIA-AA, 2016 IWG-2, 2018 NIA-AA, and 2021 IWG-3, assigning the following generic diagnostic labels: (1) not AD (nAD), (2) increased risk of developing AD (irAD), and (3) AD. Diagnostic labels were compared according to their frequency, convergence across guidelines, biomarker profiles, and prognostic value. We also evaluated the diagnostic discordance among the criteria., Results: A total of 1,195 individuals (mean age 73.2 ± 7.2 years, mean education 16.1 ± 2.7, 44.0% female) presented different repartitions of diagnostic labels according to the 2011 NIA-AA (nAD = 37.8%, irAD = 23.0%, AD = 39.2%), 2016 IWG-2 (nAD = 37.7%, irAD = 28.7%, AD = 33.6%), 2018 NIA-AA (nAD = 40.7%, irAD = 9.3%, AD = 50.0%), and 2021 IWG-3 (nAD = 51.2%, irAD = 8.4%, AD = 48.3%) frameworks. Discordant diagnoses across all guidelines were found in 512 participants (42.8%) (138 [91.4%] occurring in only β-amyloid [CU 65.4%, CI 34.6%] and 191 [78.6%] in only tau-positive [CU 71.7%, CI 28.3%] individuals). Differences in predicting cognitive impairment between nAD and irAD groups were observed with the 2011 NIA-AA (hazard ratio [HR] 2.21, 95% CI 1.34-3.65, p = 0.002), 2016 IWG-2 (HR 2.81, 95% CI 1.59-4.96, p < 0.000), and 2021 IWG-3 (HR 3.61, 95% CI 2.09-6.23, p < 0.000), but not with 2018 NIA-AA (HR 1.69, 95% CI 0.87-3.28, p = 0.115)., Discussion: Over 42% of the studied population presented discordant diagnoses when using the different examined AD criteria, mostly in individuals with a single positive biomarker. Except for 2018 NIA-AA, all guidelines identified asymptomatic individuals at risk of cognitive impairment. Our findings highlight important differences between the guidelines, emphasizing the necessity for updated criteria with enhanced staging metrics, considering clinical, research, therapeutic, and trial design aspects.
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- 2024
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5. Prevalence of psychotic symptoms in mild cognitive impairment: A systematic review and meta-analysis.
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Berger A, Castilhos RM, Ismail Z, and Camozzato A
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- Humans, Delusions complications, Delusions epidemiology, Delusions psychology, Prevalence, Cognitive Dysfunction complications, Cognitive Dysfunction epidemiology, Cognitive Dysfunction psychology, Hallucinations complications, Hallucinations epidemiology, Hallucinations psychology, Psychotic Disorders complications, Psychotic Disorders epidemiology, Psychotic Disorders psychology
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Introduction: Neuropsychiatric symptoms may impact prognosis in individuals with mild cognitive impairment (MCI); however, data on frequency of psychotic symptoms are sparse., Methods: We searched MEDLINE, EMBASE, PsychoINFO from inception to June 2023. We included studies reporting patients with MCI prevalence of (delusions and/or hallucinations. Random effects model were performed to estimate the prevalence, and subgroup and meta-regression analyses were performed to explore heterogeneity., Results: Of 3145 records identified, 36 studies were included, enrolling 20,426 patients. Overall prevalence of hallucinations was 1.78 % (95 % CI, 1.17 - 2.71) and delusions 3.84 % (95 % CI, 2.71 - 5.42), both with significant heterogeneity (/
2 = 90 %). Prevalence of hallucinations and delusions were lower when measured by NPI scales and in population-based samples., Discussion: Delusions and hallucinations occur in MCI patients at low rates. Prevalence can be partially explained by the assessment method, sample source and study heterogeneity., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier B.V. All rights reserved.)- Published
- 2024
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6. Poor sleep quality is an important modifiable risk factor for dementia: Population attributable fraction of poor sleep in a Brazilian population-based study.
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Borelli WV, Noll G, Tonon AC, Leotti VB, Castilhos RM, and Zimmer ER
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- Humans, Brazil epidemiology, Female, Male, Aged, Risk Factors, Middle Aged, Prevalence, Sleep Quality, Sleep Wake Disorders epidemiology, Aged, 80 and over, Sleep Initiation and Maintenance Disorders epidemiology, Dementia epidemiology
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Objectives: The populational impact of poor sleep quality and the risk of dementia is unclear. We analyzed the Population Attributable Fraction (PAF) of poor sleep quality for dementia, and its association with other two sleep parameters through self-reported and single questions collected in a large-scale Brazilian cohort (ELSI-Brazil)., Methods: A subset of the ELSI-Brazil with complete responses to sleep quality was retrieved for this study. This is a large representative sample of the Brazilian elderly population with an extensive assessment of sociodemographic and health risk variables. Prevalence of poor sleep quality was estimated according to the complex sample design, and its PAF was measured using a meta-analytic relative risk. A total of 6024 (56.3% women, mean 62.8 ± 9.5 years of age) individuals had complete responses., Results: The prevalence of poor sleep quality was 24.9% (95%CI 23%-26%), and the PAF of poor sleep quality including other 10 modifiable risk factors of dementia was 52.5% in Brazil. Secondary analyses identified that sleep quality, restorative sleep and sleep drug usage varied considerably according to age ranges, race, and gender., Conclusions: Poor sleep quality is an important populational modifiable risk factor for dementia in Brazil. Targeted interventions may provide an important impact in preventing dementia in low- and middle-income countries., (© 2024 John Wiley & Sons Ltd.)
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- 2024
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7. Potentially modifiable risk factors for dementia in six low-income and middle-income countries: A multinational, population-based survey.
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Feter N, Feter JS, Borelli WV, Rombaldi AJ, and Castilhos RM
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- Humans, Developing Countries, Risk Factors, Obesity complications, Obesity epidemiology, China epidemiology, Hypertension, Diabetes Mellitus epidemiology, Dementia epidemiology, Dementia etiology
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Objectives: We aimed to determine the proportion of dementia cases potentially preventable in six low-income and middle-income countries., Study Design: We analyzed data from 19,278 adults aged 50 years or more from China, South Africa, Ghana, India, Russia, and Mexico included in the WHO's Study on global AGEing and adult health., Main Outcome Measures: We calculated the population attributable fraction for ten potentially modifiable risk factors: less education, hearing loss, hypertension, diabetes, depression, heavy drinking, obesity, smoking, physical inactivity, and social isolation. Weighted attributable fraction was calculated considering communality among risk factors., Results: We estimated that 37.6 % of the burden of dementia might be attributable to these risk factors. The highest and lowest overall weighted attributable fractions were 38.3 % and 22.9 % in China and Ghana, respectively. Less education (8.3 %), smoking (6.3 %), and physical inactivity (5.7 %) showed the highest attributable fraction for dementia. The overall attributable fraction was higher in the poorest (38.1 %) than in the richest (30.9 %) income quintile. The burden of obesity, diabetes, and hypertension was 61 % higher in the wealthiest than in the poorest population. A total of 7.2 million cases of dementia in these six low- and middle-income countries are potentially caused by these ten potentially modifiable risk factors., Conclusions: Overall, 38 % of cases of dementia in China, South Africa, Ghana, India, Russia, and Mexico can be attributable to ten potentially modifiable risk factors. Cardiometabolic risk factors account for a more significant burden of dementia in the wealthiest population. Less education had the highest population attributable fraction independent of living area and income., Competing Interests: Declaration of competing interest The authors declare that they have no competing interest., (Copyright © 2023. Published by Elsevier B.V.)
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- 2024
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8. Autoimmune encephalitis in a resource-limited public health setting: a case series analysis.
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Morillos MB, Borelli WV, Noll G, Piccini CD, Leite MB, Finkelsztejn A, Bianchin MM, Castilhos RM, and Torres CM
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- Humans, Retrospective Studies, Public Health, Autoantibodies, Hashimoto Disease diagnosis, Hashimoto Disease therapy, Epilepsy, Autoimmune Diseases of the Nervous System, Encephalitis
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Background: Autoimmune encephalitis (AE) consists of a group of acquired diseases that affect the central nervous system. A myriad of phenotypes may be present at the onset. Due to the heterogeneity of clinical presentations, it is difficult to achieve uniformity for the diagnostic and therapeutic processes and follow-up strategies., Objective: To describe a series of patients diagnosed with AE in a resource-limited public hospital in southern Brazil and to analyze therapeutics and outcomes., Methods: We retrospectively reviewed the electronic medical records of patients diagnosed with AE at the Hospital de Clínicas de Porto Alegre from 2014 to 2022. Data collected included clinical presentation, neuroimaging, cerebrospinal fluid testings, electroencephalogram, autoantibodies, treatments, outcomes, follow-up time, degree of neurological impairment, and mortality., Results: Data from 17 patients were retrieved. Eleven cases were classified as definite AE and 6 as possible AE. Autoantibodies were identified in 9 patients. Timing for diagnosis was impacted by the high costs associated with autoantibody testing. Most patients became functionally dependent (82.4%) and most survivors remained with autoimmune-associated epilepsy (75%). Five patients died during hospitalization, and one after a 26-month of follow-up., Conclusion: In this resource-limited hospital, patients with AE had a worse clinical outcome than that previously described in the literature. Development of epilepsy during follow-up and mortality were greater, whilst functional outcome was inferior. Autoantibody testing was initially denied in most patients, which impacted the definitive diagnosis and the use of second-line therapies., Competing Interests: There is no conflict of interest to declare., (The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/).)
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- 2024
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9. Optimal cardiovascular health is associated with slower cognitive decline.
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Ferreira NV, Gonçalves NG, Szlejf C, Goulart AC, de Souza Santos I, Duncan BB, Schmidt MI, Barreto SM, Caramelli P, Feter N, Castilhos RM, Drager LF, Lotufo P, Benseñor I, and Suemoto CK
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- Adult, Humans, Male, Female, Aged, Middle Aged, Longitudinal Studies, Risk Factors, Blood Glucose, Cognition physiology, Cognitive Dysfunction epidemiology, Cardiovascular Diseases epidemiology
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Background: Life's Simple 7, a lifestyle and cardiovascular index associated with cognition, has been updated to Life's Essential 8 (LE8) to include sleep. LE8 has been related to cardiovascular outcomes but its association with cognition is unclear., Methods: In this longitudinal analysis of the Brazilian Longitudinal Study of Adult Health (ELSA-Brasil), LE8 score was based on health behaviors (diet, physical activity, nicotine exposure, and sleep health) as well as health-related factors (body mass index, blood lipids, blood glucose, and blood pressure). Cognition was assessed in three waves, 4 years apart, using the Consortium to Establish a Registry for Alzheimer's Disease - Word List, semantic and phonemic verbal fluency, the Trail-Making Test B (TMT-B), and a global composite score. We used linear mixed-model analysis, inverse probability weighting, and interaction analysis., Results: At baseline, the mean age of the study cohort was 51.4 ± 8.9 years, 56% were women, and 53% were White. Higher baseline LE8 scores were associated with slower decline in global cognition (β = 0.001, 95% confidence interval [CI] 0.001, 0.002; p < 0.001), memory (β = 0.001, 95% CI 0.000, 0.002; p = 0.013), verbal fluency (β = 0.001, 95% CI 0.000, 0.002; p = 0.003), and TMT-B (β = 0.004, 95% CI 0.003, 0.005; p < 0.001). This association was mainly driven by LE8 health factors, particularly blood glucose and blood pressure. Age, sex, and race were modifiers of the association between LE8 and global cognitive decline (p < 0.001), suggesting it was more pronounced in older, male, and Black participants., Conclusions: Higher baseline LE8 scores were associated with slower global and domain-specific cognitive decline during 8 years of follow-up, mainly due to health factors such as blood glucose and blood pressure. Sociodemographic factors were modifiers of this association., (© 2023 The Authors. European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology.)
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- 2024
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10. Longitudinal Cognitive Decline in Alzheimer Disease Prevention Trials: A Test of Time
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Castilhos RM and Snitz BE
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- United States, Humans, Neuropsychological Tests, Research Design, Signal Transduction, Alzheimer Disease prevention & control, Cognitive Dysfunction prevention & control
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The landscape of clinical trials for Alzheimer disease (AD) has undergone significant evolution in the past decade, most notably by the inclusion of individuals at progressively earlier stages of the disease. Recent approvals by the Food and Drug Administration have predominantly centered around individuals with prodromal and mild AD,
1,2 signaling a shift toward early intervention. Despite the result of some recent trials,3 there is optimism and hope that treating individuals at preclinical stages could have even greater effects. A major challenge for the feasibility and cost-effectiveness of clinical trials on patients with preclinical AD, however, is the fact that cognitive and functional decline over time is mild. Previous studies have already shown the heterogeneity in sensitivity to longitudinal decline across cognitive tests within early disease stages.4,5 .- Published
- 2024
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11. Author Correction: Disparity in the use of Alzheimer's disease treatment in Southern Brazil.
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De Marco M, Brandi AL, Bieger A, Krug B, Camozzato A, Picon PD, Chaves MLF, and Castilhos RM
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- 2023
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12. Caregiver burden related to feeding process in Alzheimer's disease.
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Moreira VS, Chaves MLF, de Castilhos RM, and Olchik MR
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Difficulties in the feeding process, such as aversive feeding behaviors and dysphagia, are common in patients with Alzheimer's disease (AD) and can often overload their caregivers. Although dysphagia is already established as a factor contributing to caregiver burden, the impact of aversive behaviors is less studied., Objectives: Evaluate the relationship between the feeding process in individuals with AD and their caregiver's burden., Methods: Dyads of individuals with AD and their caregivers were recruited for a cross-sectional study. The Edinburgh Feeding Evaluation in Dementia (EdFED) scale, the Zarit Burden Interview (ZBI), the mini-mental state examination (MMSE), the Functional Activities Questionnaire (FAQ), and the Functional Oral Intake scale (FOIS) were performed., Results: We included 60 AD individuals-caregivers dyads. The median (IQR) age of caregivers was 57 (19-81) years, and the most were females (70%). The individuals with AD had a median MMSE of 12 (6-15), and the disease duration was 4 (2-6) years. The mean (SD) Zarit score was 20.95 (6.51). In the multivariate linear regression, the EdFED score (95% CI 0.368-1.465) and time as a caregiver (95% CI 0.133-1.355) were associated with the caregiver's burden., Conclusions: Aversive behaviors were associated with the caregiver burden of individuals with AD, even with a short duration of the disease. These findings show the importance of education for caregivers regarding the feeding process, as these measures have great potential to minimize the caregiver's burden., Competing Interests: Disclosure: The authors report no conflicts of interest.
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- 2023
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13. Disparity in the use of Alzheimer's disease treatment in Southern Brazil.
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De Marco M, Brandi AL, Bieger A, Krug B, Camozzato A, Picon PD, Chaves MLF, and Castilhos RM
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- Humans, Brazil, Prescriptions, Public Health, Spatial Analysis, Alzheimer Disease
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Alzheimer's disease (AD) treatment is freely available in the Brazilian public health system. However, the prescription pattern and its associated factors have been poorly studied in our country. We reviewed all granted requests for AD treatment in the public health system in October 2021 in the Rio Grande do Sul (RS) state, Southern Brazil. We performed a spatial autocorrelation analysis with the population-adjusted patients receiving any AD medication as the outcome and correlated it with several socioeconomic variables. 2382 patients with AD were being treated during the period analyzed. The distribution of the outcome variable was not random (Moran's I 0.17562, P <.0001), with the most developed regions having a higher number of patients/100,000 receiving any AD medication. We show that although AD medications are available through the public health system, there is a clear disparity between regions of RS state. Factors related to socioeconomic development partly explain this finding., (© 2023. The Author(s).)
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- 2023
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14. Differences in spontaneous speech fluency between Parkinson's disease and spinocerebellar ataxia type 3.
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Dos Santos VB, Ayres A, Kieling MLM, Miglorini EC, Jardim LB, Schumacher-Schuh AF, Rieder CRM, de Castilhos RM, Spencer K, Rothe-Neves R, and Olchik MR
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Background: The basal ganglia and cerebellum both have a role in speech production although the effect of isolated involvement of these structures on speech fluency remains unclear., Objective: The study aimed to assess the differences in the articulatory pattern in patients with cerebellar vs. basal ganglia disorders., Methods: A total of 20 individuals with Parkinson's disease (PD), 20 with spinocerebellar ataxia type 3 (SCA3), and 40 controls (control group, CG) were included. Diadochokinesis (DDK) and monolog tasks were collected., Results: The only variable that distinguished SCA3 carriers from the CG was the number of syllables in the monolog, with SCA3 patients of a significantly lower number. For patients with PD, the number of syllables, phonation time, DDK, and monolog were significantly lower than for CG. Patients with PD were significantly worse compared to patients with SCA3 in the number of syllables and phonation time in DDK, and phonation time in monolog. Additionally, there was a significant correlation between the number of syllables in the monolog and the MDS-UPDRS III for participants with PD, and the Friedreich Ataxia Rating Scale for participants with SCA3 suggesting a relationship between speech and general motor functioning., Conclusion: The monolog task is better at discriminating individuals with cerebellar vs. Parkinson's diseases as well as differentiating healthy control and was related to the severity of the disease., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 dos Santos, Ayres, Kieling, Miglorini, Jardim, Schumacher-Schuh, Rieder, Castilhos, Spencer, Rothe-Neves and Olchik.)
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- 2023
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15. Race-related population attributable fraction of preventable risk factors of dementia: A Latino population-based study.
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Borelli WV, Formoso CR, Bieger A, Ferreira PL, Zimmer ER, Pascoal TA, Chaves MLF, and Castilhos RM
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Background: Risk factors for dementia have distinct frequency and impact in relation to race. Our aim was to identify differences in modifiable risk factors of dementia related to races and estimate their population attributable fraction (PAF)., Methods: An epidemiological cohort was used to estimate the prevalence of 10 modifiable risk factors for dementia among five races-White, Black, Brown, Asian, and Indigenous. Sample weighting was used to estimate the prevalence and PAF of each risk factor in each race., Results: A total of 9070 individuals were included. Overall adjusted PAF was the lowest in Indigenous (38.9%), and Asian individuals (41.2%). Race-related prevalence of individual risk factors was widely variable in our population, but hearing loss was the most important contributor to the overall PAF in all races., Conclusions: Public policies aiming to reduce preventable risk factors for dementia should take into consideration the race of the target populations., Highlights: Preventable risk factors for dementia vary according to race.Hearing loss presented the highest prevalence among all races studied.Indigenous and Asian individuals presented the lowest population attributable fractions.Black and Brown individuals were more vulnerable to social determinants., Competing Interests: The authors declare they have no conflicts of interest. Author disclosures are available in the supporting information., (© 2023 The Authors. Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring published by Wiley Periodicals, LLC on behalf of Alzheimer's Association.)
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- 2023
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16. Diagnosis and management of Parkinson's disease dementia and dementia with Lewy bodies: recommendations of the Scientific Department of Cognitive Neurology and Aging of the Brazilian Academy of Neurology.
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Parmera JB, Tumas V, Ferraz HB, Spitz M, Barbosa MT, Smid J, Barbosa BJAP, Schilling LP, Balthazar MLF, de Souza LC, Vale FAC, Caramelli P, Bertolucci PHF, Chaves MLF, Brucki SMD, Nitrini R, Castilhos RM, and Frota NAF
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Parkinson's disease dementia (PDD) and dementia with Lewy bodies (DLB) represent the second most common type of degenerative dementia in patients aged 65 years and older, leading to progressive cognitive dysfunction and impaired quality of life. This study aims to provide a consensus based on a systematic Brazilian literature review and a comprehensive international review concerning PDD and DLB. Moreover, we sought to report on and give recommendations about the best diagnostic approaches focusing on primary and secondary care. Based on the available data, we recommend clinicians to apply at least one brief global cognitive instrument to assess PDD, such as the Mini-Mental State Examination and preferably the Montreal Cognitive Assessment and the Addenbrooke's Cognitive Examination-Revised. Validated instruments to accurately assess functional abilities in Brazilian PD patients are still incipient. Further studies should focus on biomarkers with Brazilian cohorts., Competing Interests: Conflito de interesses: : JS: Participação como palestrante em simpósios promovidos pelo laboratório Roche; LPS: Participação no conselho consultivo da Biogen. Participação como palestrante em simpósios promovidos pelos laboratórios Aché, Apsen e Biogen; MLFB: Participação no conselho consultivo da Biogen. Desenvolvimento de material para educação médica continuada e participação como palestrante em simpósios promovidos pelos laboratórios EMS e Torrent; PC: Participação como investigador principal em ensaios clínicos para os laboratórios Novo Nordisk e Roche. Participação no conselho consultivo dos laboratórios Aché, Biogen, EMS, Nutricia e Roche. Desenvolvimento de material para educação médica continuada e participação como palestrante em simpósios promovidos pelos laboratórios Aché, Nutricia, Libbs, Roche, Sandoz, Torrent e Zodiac; PHFB: Participação no conselho consultivo dos laboratórios Biogen e Novo Nordisk. Supervisão de atividades de treinamento nos laboratórios Biogen, Janssen-Cilag e Novo Nordisk e para a Quintiles. Participação como palestrante em simpósios promovidos pelos laboratórios Apsen, Nutricia, Roche e Sandoz; LCS: Participação no conselho consultivo da Biogen. Participação como palestrante em simpósios promovidos pela Biogen; RN: Participação no conselho consultivo da Biogen; JBP, VT, HBF, MS, MTB, BJAPB, FACV, MLFG, SMDB, RMC, NAFF: Não há conflito de interesse a declarar.
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- 2022
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17. Subjective cognitive decline in Brazil: Prevalence and association with dementia modifiable risk factors in a population-based study.
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Borelli WV, Zimmer ER, Bieger A, Coelho B, Pascoal TA, Chaves MLF, Amariglio R, and Castilhos RM
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Introduction: Subjective cognitive decline (SCD) may be an early symptom of Alzheimer's disease. We aimed to estimate the prevalence of SCD in Brazil and its association with dementia modifiable risk factors., Methods: We used data of 8138 participants from the Brazilian Longitudinal Study of Aging (ELSI-Brazil), a population-based study that included clinical and demographic variables of individuals across the country. We calculated the prevalence of SCD and its association with dementia modifiable risk factors., Results: We found that the prevalence of SCD in Brazil was 29.21% (28.22%-30.21%), varying according to region, sex, and age. SCD was strongly associated with hearing loss, low education, psychological distress, Brown/Pardo and Black races., Discussion: The prevalence of SCD in Brazil is higher than in high-income countries. Brown/Black races and dementia modifiable risk factors were associated with SCD. Public strategies that target SCD may help mitigate the incidence of dementia., Competing Interests: None., (© 2022 The Authors. Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring published by Wiley Periodicals, LLC on behalf of Alzheimer's Association.)
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- 2022
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18. Association of Being Accompanied at Medical Consultation and Having Memory Complaints With Cognitive Impairment in Elderly Brazilian Outpatients.
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Cerveira MO, Silva-da-Silva E, Borelli WV, Castilhos RM, and Chaves MLF
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- Humans, Female, Aged, Male, Neuropsychological Tests, Outpatients, Brazil, Referral and Consultation, Memory Disorders psychology, Cognitive Dysfunction complications
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Background: The usefulness of both the presence of a companion at the medical consultation and patient's cognitive complaints as selection strategies for performing a dementia evaluation is still unclear., Objectives: To estimate the association of elderly patients being accompanied during medical visits and patient's memory complaint with objective cognitive impairment., Methods: We included elderly outpatients awaiting medical consultations in 3 non-neurological medical specialties. Demographic and Mini-Mental State Examination were collected. Patients' memory complaints were evaluated with a single question to both patients and companions., Results: Five hundred ninety-three elderly patients were included in the study with 64.6% female and median (interquartile range) age 73 (68-78), 4 (2-6) years of education. Of these, 242 patients were accompanied and 62.6% presented memory complaints. The median (interquartile range) Mini-Mental State Examination scores were significantly lower in patients accompanied and in those with memory complaints. In a logistic regression model, age, education, memory complaint, and presence of companion were associated with cognitive impairment. In the model including only accompanied patients, only age and companion memory complaints were associated with objective cognitive impairment., Conclusions: The presence of a companion during a clinical consultation and patients' memory complaints are both synergistically associated with objective cognitive impairment., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)
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- 2022
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19. Discovery and validation of dominantly inherited Alzheimer's disease mutations in populations from Latin America.
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Takada LT, Aláez-Verson C, Burgute BD, Nitrini R, Sosa AL, Castilhos RM, Chaves MF, Longoria EM, Carrillo-Sánchez K, Brucki SMD, Flores-Lagunes LL, Molina C, Olivares MJ, Ziegemeier E, Petranek J, Goate AM, Cruchaga C, Renton AE, Fernández MV, Day GS, McDade E, Bateman RJ, Karch CM, and Llibre-Guerra JJ
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- Adult, Amyloid beta-Protein Precursor genetics, Humans, Latin America, Middle Aged, Mutation genetics, Presenilin-1 genetics, Alzheimer Disease genetics
- Abstract
Background: In fewer than 1% of patients, AD is caused by autosomal dominant mutations in either the presenilin 1 (PSEN1), presenilin 2 (PSEN2), or amyloid precursor protein (APP) genes. The full extent of familial AD and frequency of these variants remains understudied in Latin American (LatAm) countries. Due to the rare nature of these variants, determining the pathogenicity of a novel variant in these genes can be challenging. Here, we use a systematic approach to assign the likelihood of pathogenicity in variants from densely affected families in Latin American populations., Methods: Clinical data was collected from LatAm families at risk for DIAD. Symptomatic family members were identified and assessed by local clinicians and referred for genetic counseling and testing. To determine the likelihood of pathogenicity among variants of unknown significance from LatAm populations, we report pedigree information, frequency in control populations, in silico predictions, and cell-based models of amyloid-beta ratios., Results: We identified five novel variants in the presenilin1 (PSEN1) gene from Brazilian and Mexican families. The mean age at onset in newly identified families was 43.5 years (range 36-54). PSEN1 p.Val103_Ser104delinsGly, p.Lys395Ile, p.Pro264Se, p.Ala275Thr, and p.Ile414Thr variants have not been reported in PubMed, ClinVar, and have not been reported in dominantly inherited AD (DIAD) families. We found that PSEN1 p.Val103_Ser104delinsGly, p.Lys395Ile, p.Pro264Se, and p.Ala275Thr produce Aβ profiles consistent with known AD pathogenic mutations. PSEN1 p.Ile414Thr did not alter Aβ in a manner consistent with a known pathogenic mutation., Conclusions: Our study provides further insights into the genetics of AD in LatAm. Based on our findings, including clinical presentation, imaging, genetic, segregations studies, and cell-based analysis, we propose that PSEN1 p.Val103_Ser104delinsGly, p.Lys395Ile, p.Pro264Se, and p.Ala275Thr are likely pathogenic variants resulting in DIAD, whereas PSEN1 p.Ile414Thr is likely a risk factor. This report is a step forward to improving the inclusion/engagement of LatAm families in research. Family discovery is of great relevance for the region, as new initiatives are underway to extend clinical trials and observational studies to families living with DIAD., (© 2022. The Author(s).)
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- 2022
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20. [From lifestyle to stimulation for dementia prevention in Brazil] - Authors' reply.
- Author
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Borelli WV and Castilhos RM
- Abstract
Competing Interests: The authors declare they have no conflict of interest.
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- 2022
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21. Preventable risk factors of dementia: Population attributable fractions in a Brazilian population-based study.
- Author
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Borelli WV, Leotti VB, Strelow MZ, Chaves MLF, and Castilhos RM
- Abstract
Background: Knowledge regarding the modifiable risk factors of dementia is fundamental to guide public health policy. We aimed to estimate the population attributable fraction of modifiable risk factors of dementia among adults from a nationwide epidemiological study., Methods: We used the public database of the Brazilian Longitudinal Study of Aging (ELSI-Brazil) to calculate the Population Attributable Fraction (PAF) for ten risk factors, including education level, hearing loss, hypertension, alcohol consumption, obesity, active smoking, depression, social isolation, physical inactivity, and diabetes. PAF was estimated for this sample after accounting for the communality of each risk factor., Findings: The ten preventable risk factors for dementia accounted for 50·5% of the Population Attributable Fraction in Brazil. Hearing loss (14·2%), physical inactivity (11·2%), and hypertension (10·4%) accounted for the highest PAF among all the risk factors. Considerable variation in the relative contribution of the different risk factors was found in different regions., Interpretation: This study might provide an opportunity to change the impact of dementia in Brazil. By targeting modifiable risk factors of dementia, the health of individuals in Brazil might be considerably improved., Funding: This study did not receive any funding., Competing Interests: The authors declare no conflict of interest., (© 2022 The Author(s).)
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- 2022
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22. Functional Cognitive Disorder Presents High Frequency and Distinct Clinical Profile in Patients With Low Education.
- Author
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Borelli WV, de Senna PN, Brum WS, Schumacher-Schuh AF, Zimmer ER, Fagundes Chaves ML, and Castilhos RM
- Abstract
Introduction: Functional Cognitive Disorder (FCD) is a non-degenerative, common cause of memory complaint in patients with high educational levels. FCD has been insufficiently described in individuals with low education. Here, we investigated the frequency of FCD among individuals with low education., Methods: We analyzed retrospectively all new referrals from primary care to a tertiary memory clinic from 2014 to 2021. Final diagnosis, diagnostic work-up, clinical and cognitive testing data were compared between FCD and other diagnoses, grouped as Neurodegenerative Disorders (NDD). A regression model was used to assess the effect of education on the diagnosis. Data is shown in Mean [SD]., Results: A total of 516 individuals (70.76 [10.3] years) with low educational attainment (4.5 [3.94] years) were divided into FCD (146, 28.3%) and NDD. Compared with NDD, FCD patients showed lower age at presentation (66.2 [9.4] vs. 72.6 [10.2], p < 0.001), higher Mini-Mental State Examination (MMSE) scores (22.4 [6.2] vs. 14.7 [7.8], p < 0.001) and Geriatric Depression Scale (GDS) scores (7.4 [5.4] vs. 5.3 [3.7], p = 0.0001)., Discussion: Surprisingly, FCD was the most frequent diagnosis in a low educational setting. However, education was not associated with FCD. Individuals presenting FCD showed a distinct clinical profile, including younger age and higher depressive scores. Strategies to identify FCD in primary care settings may benefit both patients and healthcare systems., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Borelli, de Senna, Brum, Schumacher-Schuh, Zimmer, Fagundes Chaves and Castilhos.)
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- 2022
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