Publications by authors named "Bruno L Santos-Lobato"

Article Synopsis
  • Latin Americans are often overlooked in genetic studies, which can widen gaps in personalized medicine due to the challenges of accessing genetic data and consent processes.
  • The Genetics of Latin American Diversity (GLAD) Project compiles genetic information from over 53,000 individuals across various regions to explore diverse ancestry and gene flow in the Americas.
  • GLAD includes a tool called GLAD-match to align external genetic samples with its database while protecting individual privacy, thus supporting more inclusive genomic research and enhancing personalized medicine for Latin Americans.
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Article Synopsis
  • Parkinson's disease (PD) is increasingly recognized as a public health issue, particularly in lower-income countries where data is limited.
  • A systematic review of literature identified 57 relevant studies from various regions, revealing significant geographical differences in PD prevalence, with numbers ranging from 49 to 1081 per 100,000 population.
  • The study found that PD prevalence increases with age and is influenced by socioeconomic factors such as GDP per capita, highlighting the need for better data collection and standardized methodologies across different populations.
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Levodopa-induced dyskinesia (LID) refers to involuntary motor movements of chronic use of levodopa in Parkinson's disease (PD) that negatively impact the overall well-being of people with this disease. The molecular mechanisms involved in LID were investigated through whole-blood transcriptomic analysis for differential gene expression and identification of new co-expression and differential co-expression networks. We found six differentially expressed genes in patients with LID, and 13 in patients without LID.

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Background: In the last decades, the association of household pesticide usage with Parkinson's disease (PD) has been poorly explored, with discordant results. Based on the Parkinson's Progression Markers Initiative (PPMI) cohort study, we analyzed (1) the association of household pesticide exposure with the development of PD and (2) the effect of household pesticides on progression of PD.

Methods: Data from participants of the "FOllow Up persons with Neurologic Disease" (FOUND study) included in the PPMI cohort database were analyzed.

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Article Synopsis
  • Current estimates of genetic variants linked to Parkinson's disease (PD) show limitations and biases across different populations, complicating patient recruitment for clinical trials focused on genetic therapies.
  • The Rostock Parkinson's disease (ROPAD) study analyzes data from 12,580 PD patients across 16 countries, revealing that 14.8% had a genetic test positive for PD-related variants, particularly in specific genes like GBA1 and LRRK2.
  • Findings indicate higher positivity rates in patients with earlier onset (age ≤ 50) or a positive family history, emphasizing the need for more extensive genetic investigation to improve patient stratification for future clinical trials.
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Background: Growing evidence has shown that mitochondrial dysfunction is part of the pathogenesis of Parkinson's disease (PD). However, the role of mitochondrial DNA (mtDNA) variants on PD onset is unclear.

Objectives: The present study aims to evaluate the effect of mtDNA variants and haplogroups on risk of developing PD.

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Unlabelled: Parkinson's disease (PD) is a common neurodegenerative disease associated with cognitive impairment. The Montreal Cognitive Assessment (MoCA) has been used as a recommended global cognition scale for patients with PD, but there are some concerns about its application, partially due to the floor and ceiling effects.

Objective: To explore the floor and ceiling effects on the MoCA in patients with PD in Brazil.

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Article Synopsis
  • - This study highlights the importance of identifying hereditary parkinsonism for better diagnosis and personalized therapies, especially in underrepresented populations like those in Latin America.
  • - A systematic review and meta-analysis of studies from 16 Latin American countries evaluated the prevalence of genetic parkinsonism and found pathogenic variants in 19 genes among over 7,600 patients.
  • - The analysis revealed specific frequencies for genes LRRK2 (1.38%), PRKN (1.16%), and GBA1 (4.17%), although high heterogeneity was noted across the studies, indicating variability in findings.
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Parkinson's disease (PD) is a chronic and progressive neurodegenerative disorder, and the current treatment involves pharmacological intervention and physiotherapy. Telerehabilitation, which involves remote support and guidance for patients undergoing rehabilitation, can potentially improve access to physiotherapy services for people with Parkinson's disease, especially those who face geographic barriers to healthcare. The primary aim of this study was to assess the feasibility and efficacy of a telerehabilitation program for people with Parkinson's disease living in an underrepresented community of the Brazilian Amazon.

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Mitophagy is an important process that participates in mitochondrial quality control. Dysfunctions in this process can be caused by mutations in genes like and are associated with the development and progression of Parkinson's Disease (PD). The most used drug in the treatment of PD is levodopa (LD), but it can cause adverse effects, such as dyskinesia.

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The Finger Tapping Test (FTT) is a classical neuropsychological test that assesses motor functioning, and recently it has been employed using smartphones. For classical protocols, it has been observed that sex and handedness influence the performance during the test. By assessing the influence of sex and handedness on the test, it is possible to adjust the performance measurements to ensure the validity of test results and avoid sex- and handedness-related bias.

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Background: Sex differences in Parkinson's disease (PD) risk are well-known. However, the role of sex chromosomes in the development and progression of PD is still unclear.

Objective: The objective of this study was to perform the first X-chromosome-wide association study for PD risk in a Latin American cohort.

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The prevalence of Parkinson's disease (PD) is growing worldwide and household pesticides exposure may be related to this phenomenon. We showed that individuals with high exposure to household pesticides have two times more risk of developing PD. Household pesticide exposure did not impact age at PD onset.

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Background And Objectives: Neurologic disorders are common medical conditions. However, even with a higher demand for neurologic care, the capacity to train neurologists is impaired. The fear of neurosciences/neurology by medical students, known as neurophobia, may cause multiple adverse effects in neurologic assistance.

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Background: Levodopa-induced dyskinesia (LID) is a common motor complication of levodopa therapy in patients with Parkinson's disease (PD). Doxycycline is a widely used and inexpensive tetracycline with anti-inflammatory properties.

Objective: To evaluate the efficacy and safety of doxycycline in patients with PD and LID.

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Background: Neurology is a medical specialty that deals with prevalent diseases such as stroke, headache, epilepsy, and neurodegenerative diseases. Many countries, such as Brazil, struggle to provide neurological care for their populations, but the inadequacy and unequal distribution of the neurologist workforce are real challenges.

Objective: To analyze the demographic evolution of neurologists and the first-year Neurology residency positions in Brazil during the last decade (2010-2020) and the distribution imbalance between regions.

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Sex differences in Parkinson Disease (PD) risk are well-known. However, it is still unclear the role of sex chromosomes in the development and progression of PD. We performed the first X-chromosome Wide Association Study (XWAS) for PD risk in Latin American individuals.

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Juvenile Huntington's disease is an early-onset variant of Huntington's disease, generally associated with large CAG repeats and distinct clinical symptoms. The role of the cerebellum in Huntington's disease has been reevaluated, based on the presence of ataxia and findings on the impact of the disease on cerebellar volume. Recent studies showed a hyperconnectivity between the cerebellum and the basal ganglia in premanifest children with expanded CAG repeats, as well as an enlargement of the cerebellum in adolescence-onset Huntington's disease.

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Tremors are common disorders characterized by an involuntary and relatively rhythmic oscillation that can occur in any part of the body and may be physiological or associated with some pathological condition. It is known that the mass loading can change the power spectral distribution of the tremor. Nowadays, many instruments have been used in the evaluation of tremors with bult-in inertial sensors, such as smartphones and wearables, which can significantly differ in the device mass.

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Full sequencing of the GBA1 gene in patients with Parkinson's disease provides a wide screening of pathogenic variants, but less developed regions of the world, like Latin America, may have difficulties in performing full sequencing. We performed a systematic review with meta-analysis to explore the prevalence and the odds ratio of specific GBA1 variants in Parkinson's disease in Latin America. We noted a lack of full sequencing GBA1 studies in Latin America.

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Article Synopsis
  • Previous Parkinson's disease genome-wide association studies (GWAS) focused mainly on individuals of European ancestry, resulting in polygenic risk scores (PRS) that may not accurately predict PD risk in non-European populations.
  • In this study, a PD PRS was developed specifically for a Latino cohort and validated using data from independent Latino subjects and additional Peruvian controls, which showed varying predictive strengths.
  • Findings indicate that while the PRS shows promise for predicting PD risk among Latinos, differences in genetic ancestry and the limitations of relying on European data highlight the need for more inclusive research to refine risk prediction across diverse populations.
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Falls represent a public health issue around the world and prevention is an important part of the politics of many countries. The standard method of evaluating balance is posturography using a force platform, which has high financial costs. Other instruments, such as portable devices and smartphones, have been evaluated as low-cost alternatives to the screening of balance control.

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Background: Human genetics research lacks diversity; over 80% of genome-wide association studies have been conducted on individuals of European ancestry. In addition to limiting insights regarding disease mechanisms, disproportionate representation can create disparities preventing equitable implementation of personalized medicine.

Objective: This systematic review provides an overview of research involving Parkinson's disease (PD) genetics in underrepresented populations (URP) and sets a baseline to measure the future impact of current efforts in those populations.

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Levodopa-induced dyskinesia (LID) is a common complication of Parkinson's disease (PD) therapy. Nitric oxide in the central nervous system may have a role in its pathophysiology. The present work investigates plasma and CSF levels of nitric oxide metabolites nitrite and nitrate in patients with PD, LID, and healthy control.

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