14 results on '"Raphael Machado Castilhos"'
Search Results
2. Disparity in the use of Alzheimer's disease treatment in Southern Brazil
- Author
-
Maisa De Marco, Ana Laura Brandi, Andrei Bieger, Bárbara Krug, Analuiza Camozzato, Paulo D. Picon, Marcia Lorena Fagundes Chaves, and Raphael Machado Castilhos
- Subjects
Medicine ,Science - Abstract
Abstract 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
- Published
- 2023
- Full Text
- View/download PDF
3. Diagnóstico e manejo da demência da doença de Parkinson e demência com corpos de Lewy: recomendações do Departamento Científico de Neurologia Cognitiva e do Envelhecimento da Academia Brasileira de Neurologia
- Author
-
Jacy Bezerra Parmera, Vitor Tumas, Henrique Ballalai Ferraz, Mariana Spitz, Maira Tonidandel Barbosa, Jerusa Smid, Breno José Alencar Pires Barbosa, Lucas Porcello Schilling, Márcio Luiz Figueiredo Balthazar, Leonardo Cruz de Souza, Francisco Assis Carvalho Vale, Paulo Caramelli, Paulo Henrique Ferreira Bertolucci, Márcia Lorena Fagundes Chaves, Sonia Maria Dozzi Brucki, Ricardo Nitrini, Raphael Machado Castilhos, and Norberto Anízio Ferreira Frota
- Subjects
Consenso ,Doença de Parkinson ,Corpos de Lewy ,Demência ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Abstract
RESUMO A demência da doença de Parkinson (DDP) e a demência com corpos de Lewy (DCL) representam a segunda causa mais comum de demência neurodegenerativa em pessoas com mais de 65 anos, ocasionando progressivo declínio cognitivo e comprometimento da qualidade de vida. O presente estudo tem como objetivo prover um consenso de especialistas sobre a DDP e DCL, baseado em revisão sistemática da literatura brasileira e revisão não-sistemática de literatura internacional. Ademais, tal estudo visa promover informação e conceder recomendações sobre abordagem diagnóstica, com foco nos níveis de atenção primária e secundária em saúde. Com base nos dados disponíveis, recomendamos que os profissionais realizem pelo menos um breve instrumento cognitivo global, como o Mini-Exame do Estado Mental, contudo de preferência optem pela Avaliação Cognitiva de Montreal e o Exame Cognitivo de Addenbrooke-Revisado. Observa-se uma carência de instrumentos validados para a avaliação precisa das habilidades funcionais em pacientes brasileiros com DDP e DCL. Além disso, mais estudos focando em biomarcadores com coortes brasileiras também são necessários.
- Published
- 2022
- Full Text
- View/download PDF
4. Discovery and validation of dominantly inherited Alzheimer’s disease mutations in populations from Latin America
- Author
-
Leonel Tadao Takada, Carmen Aláez-Verson, Bhagyashri D. Burgute, Ricardo Nitrini, Ana Luisa Sosa, Raphael Machado Castilhos, Marcia Fagundes Chaves, Erika-Mariana Longoria, Karol Carrillo-Sánchez, Sonia Maria Dozzi Brucki, Luis Leonardo Flores-Lagunes, Carolina Molina, Marcos Jimenez Olivares, Ellen Ziegemeier, Jennifer Petranek, Alison M. Goate, Carlos Cruchaga, Alan E. Renton, Maria Victoria Fernández, Gregory S. Day, Eric McDade, Randall J. Bateman, Celeste M. Karch, Jorge J. Llibre-Guerra, and for the Dominantly Inherited Alzheimer Network
- Subjects
Dominantly inherited Alzheimer disease ,Presenilin 1 ,Latin America ,Early-onset Alzheimer disease ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
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.
- Published
- 2022
- Full Text
- View/download PDF
5. Race‐related population attributable fraction of preventable risk factors of dementia: A Latino population‐based study
- Author
-
Wyllians Vendramini Borelli, Carolina Rodrigues Formoso, Andrei Bieger, Pamela Lukasewicz Ferreira, Eduardo R. Zimmer, Tharick Ali Pascoal, Marcia Lorena Fagundes Chaves, and Raphael Machado Castilhos
- Subjects
dementia ,epidemiology ,Latino ,primary care ,public health ,Neurology. Diseases of the nervous system ,RC346-429 ,Geriatrics ,RC952-954.6 - Abstract
Abstract 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.
- Published
- 2023
- Full Text
- View/download PDF
6. Protocol for a randomized clinical trial: telephone-based psychoeducation and support for female informal caregivers of patients with dementia
- Author
-
Andressa Hermes-Pereira, Patrícia Ferreira, Matheus Canellas Fonseca Barbosa dos Santos, Pedro Alves Fagundes, Ana Paula Bresolin Gonçalves, Dimitris Varvaki Rados, Raphael Machado Castilhos, Lucas Porcello Schilling, Márcia Lorena Fagundes Chaves, Roberto Umpierre, Renata Kochhann, and Artur Francisco Schumacher-Schuh
- Subjects
dementia ,caregiver ,burden ,telemedicine ,Nursing ,RT1-120 ,Geriatrics ,RC952-954.6 ,Public aspects of medicine ,RA1-1270 - Abstract
OBJECTIVE: The burden felt by informal caregivers of patients with dementia is a source of physical, emotional, and financial problems. Face-to-face interventions for caregivers have accessibility limitations that may prevent them from receiving adequate care. Telehealth tools can be a solution to this problem. We will compare a telephone psychoeducational and support intervention protocol to usual care for informal female caregivers of patients with dementia treated at Brazilian specialized outpatient clinics. METHODS: In this single-blind randomized clinical trial, the intervention group will receive one weekly call for 8 weeks that addresses issues such as disease education, communication with the patient, and problematic behaviors. The control group will receive printed material on problematic behaviors in dementia. The primary outcome will be the difference in caregiver burden between baseline and 8 weeks, which will be assessed by blinded investigators through the Zarit Burden Interview scale. Caregiver burden at 16 weeks after baseline, depression, anxiety, and quality of life at 8 and 16 weeks are secondary outcomes. CONCLUSIONS: We expect the intervention to reduce caregiver burden. These results could lead to public health programs for improving dementia care in lower-middle-income countries. Ethics and dissemination: This trial was approved by an independent ethics committee. The results will be published in an international peer-reviewed medical journal. Trial registration number: NCT03260608.
- Published
- 2022
- Full Text
- View/download PDF
7. Author Correction: Disparity in the use of Alzheimer's disease treatment in Southern Brazil
- Author
-
Maisa De Marco, Ana Laura Brandi, Andrei Bieger, Bárbara Krug, Analuiza Camozzato, Paulo D. Picon, Marcia Lorena Fagundes Chaves, and Raphael Machado Castilhos
- Subjects
Medicine ,Science - Published
- 2023
- Full Text
- View/download PDF
8. Tertiary center referral delay of patients with dementia in Southern Brazil: associated factors and potential solutions
- Author
-
Brunna de Bem Jaeger, Milena Lemos Oliveira, Raphael Machado Castilhos, and Márcia Lorena Fagundes Chaves
- Subjects
dementia ,referral and consultation ,delayed diagnosis ,general practitioners ,educational activities ,information dissemination ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Abstract
ABSTRACT. Early dementia diagnosis has many benefits and is a priority. In Brazil, most cases are diagnosed by a specialist. Objective: We aimed to study the average time from disease onset to specialist assessment and related factors; we also propose potential strategies to deal with this delay. Methods: This was a cross-sectional database study in 245 patients with dementia from an outpatient clinic in a tertiary university hospital in Southern Brazil, which only assesses individuals from the Unified Health System (SUS). The outcome was time from symptoms onset to specialist assessment, reported by the informants. Individuals were separated into two groups: less and more than 1 year to specialist assessment. Multivariable analysis was used to test the potential related factors associated with delayed specialist assessment. Results: Mean±SD of time from symptoms onset to specialist assessment was 3.3±3.3 years. In the unadjusted analysis, individuals who were assessed before 1 year were more often diagnosed with vascular dementia, had more sudden and subacute onset, neuropsychiatric symptoms at presentation, rapid progression, and alcohol and antipsychotics use (p
- Published
- 2021
- Full Text
- View/download PDF
9. [From lifestyle to stimulation for dementia prevention in Brazil] – Authors’ reply
- Author
-
Wyllians Vendramini Borelli and Raphael Machado Castilhos
- Subjects
Public aspects of medicine ,RA1-1270 - Published
- 2022
- Full Text
- View/download PDF
10. Preventable risk factors of dementia: Population attributable fractions in a Brazilian population-based study
- Author
-
Wyllians Vendramini Borelli, Vanessa Bielefeldt Leotti, Matheus Zschornack Strelow, Márcia Lorena Fagundes Chaves, and Raphael Machado Castilhos
- Subjects
Dementia ,Modifiable risk factors ,Prevention ,Public health system ,Health providers ,Public aspects of medicine ,RA1-1270 - Abstract
Summary: 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.
- Published
- 2022
- Full Text
- View/download PDF
11. SMART Syndrome Identification and Successful Treatment
- Author
-
Álvaro de Oliveira Franco, Eduardo Anzolin, Marcio Schneider Medeiros, Raphael Machado Castilhos, Rodrigo Targa Martins, and Humberto Luiz Moser Filho
- Subjects
smart syndrome ,aphasia ,radiation therapy ,pulse corticosteroid therapy ,calcium channel blocker ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
Stroke-like migraine attacks after radiation therapy (SMART) syndrome is a rare late complication of brain irradiation. Patients commonly present recurrent attacks of headaches, seizures, and paroxysmal focal neurological deficits including aphasia, negligence, or hemianopsia. We report a 41-year-old male patient admitted to our emergency room with a reduced level of consciousness and global aphasia. One month prior to admission, he started with frequent headache attacks of moderate intensity and paroxysmal behavioral alterations, advancing to confusion, gait instability, language impairment, and somnolence. He had a history of medulloblastoma treated with surgical resection followed by craniospinal irradiation 21 years before symptom onset. After excluding more frequent causes for the patient’s symptoms along with a suggestive image pattern, we started treatment for SMART syndrome with high-dose corticosteroid and calcium channel blocker verapamil. The patient gradually improved his level of consciousness and recovered from aphasia and gait instability without new seizures or neuropsychiatric symptoms. Follow-up brain magnetic resonance imaging showed resolution of the typical findings. This case displays a successful clinical evolution of a patient treated for SMART syndrome in which identification of previous radiation treatment, exclusion of other etiologies, and prompt treatment institution were key for effectively tackling this disease.
- Published
- 2021
- Full Text
- View/download PDF
12. Functional Cognitive Disorder Presents High Frequency and Distinct Clinical Profile in Patients With Low Education
- Author
-
Wyllians Vendramini Borelli, Priscylla Nunes de Senna, Wagner Scheeren Brum, Artur Francisco Schumacher-Schuh, Eduardo R. Zimmer, Márcia Lorena Fagundes Chaves, and Raphael Machado Castilhos
- Subjects
cognitive complaint ,subjective cognitive decline ,dementia ,Alzheimer’s disease ,public health ,subjective memory impairment ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Abstract
IntroductionFunctional 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.MethodsWe 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].ResultsA 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).DiscussionSurprisingly, 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.
- Published
- 2022
- Full Text
- View/download PDF
13. Free carnitine and branched chain amino acids are not good biomarkers in Huntington’s disease
- Author
-
Raphael Machado CASTILHOS, Marina Coutinho AUGUSTIN, José Augusto dos SANTOS, José Luiz PEDROSO, Orlando BARSOTTINI, Roberta SABA, Henrique Ballalai FERRAZ, Fernando Regla VARGAS, Gabriel Vasata FURTADO, Marcia Polese-BONATTO, Luiza Paulsen RODRIGUES, Lucas Schenatto SENA, Carmen Regla VARGAS, Maria Luiza SARAIVA-PEREIRA, Laura Bannach JARDIM, and Rede NEUROGENÉTICA
- Subjects
Biomarkers ,Amino Acids, Branched-Chain ,Carnitine ,Huntington Disease ,Weight Loss ,Neurosciences. Biological psychiatry. Neuropsychiatry ,RC321-571 - Abstract
ABSTRACT Background: Huntington’s disease (HD), caused by an expanded CAG repeat at HTT, has no treatment, and biomarkers are needed for future clinical trials. Objective: The objective of this study was to verify if free carnitine and branched chain amino acids levels behave as potential biomarkers in HD. Methods: Symptomatic and asymptomatic HD carriers and controls were recruited. Age, sex, body mass index (BMI), age of onset, disease duration, UHDRS scores, and expanded CAG tract were obtained; valine, leucine, isoleucine, and free carnitine were measured. Baseline and longitudinal analysis were performed. Results: Seventy-four symptomatic carriers, 20 asymptomatic carriers, and 22 non-carriers were included. At baseline, valine levels were reduced in symptomatic and asymptomatic HD carriers when compared to non-carriers. No difference in free carnitine or isoleucine+leucine levels were observed between groups. BMI of symptomatic individuals was lower than those of non-carriers. Valine levels correlated with BMI. Follow-up evaluation was performed in 43 symptomatic individuals. UHDRS total motor score increased 4.8 points/year on average. No significant reductions in BMI or valine were observed, whereas free carnitine and isoleucine+leucine levels increased. Conclusions: Although valine levels were lower in HD carriers and were related to BMI losses observed in pre-symptomatic individuals, none of these metabolites seem to be biomarkers for HD.
- Published
- 2020
- Full Text
- View/download PDF
14. Peripheral Oxidative Stress Biomarkers in Spinocerebellar Ataxia Type 3/Machado–Joseph Disease
- Author
-
Adriano M. de Assis, Jonas Alex Morales Saute, Aline Longoni, Clarissa Branco Haas, Vitor Rocco Torrez, Andressa Wigner Brochier, Gabriele Nunes Souza, Gabriel Vasata Furtado, Tailise Conte Gheno, Aline Russo, Thais Lampert Monte, Raphael Machado Castilhos, Artur Schumacher-Schuh, Rui D’Avila, Karina Carvalho Donis, Carlos Roberto de Mello Rieder, Diogo Onofre Souza, Suzi Camey, Vanessa Bielefeldt Leotti, Laura Bannach Jardim, and Luis Valmor Portela
- Subjects
spinocerebellar ataxia type 3 ,Machado–Joseph disease ,oxidative stress ,reactive oxygen species ,polyglutamine disorders ,Neurology. Diseases of the nervous system ,RC346-429 - Abstract
ObjectivesSpinocerebellar ataxia type 3/Machado–Joseph disease (SCA3/MJD) is a polyglutamine disorder with no current disease-modifying treatment. Conformational changes in mutant ataxin-3 trigger different pathogenic cascades, including reactive oxygen species (ROS) generation; however, the clinical relevance of oxidative stress elements as peripheral biomarkers of SCA3/MJD remains unknown. We aimed to evaluate ROS production and antioxidant defense capacity in symptomatic and presymptomatic SCA3/MJD individuals and correlate these markers with clinical and molecular data with the goal of assessing their properties as disease biomarkers.MethodsMolecularly confirmed SCA3/MJD carriers and controls were included in an exploratory case–control study. Serum ROS, measured by 2′,7′-dichlorofluorescein diacetate (DCFH-DA) as well as superoxide dismutase (SOD) and glutathione peroxidase (GSH-Px) antioxidant enzyme activities, levels were assessed.ResultsFifty-eight early/moderate stage symptomatic SCA3/MJD, 12 presymptomatic SCA3/MJD, and 47 control individuals were assessed. The DCFH-DA levels in the symptomatic group were 152.82 nmol/mg of protein [95% confidence interval (CI), 82.57–223.08, p
- Published
- 2017
- Full Text
- View/download PDF
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.