Publications by authors named "Marcelo A"

Objective: To analyze the correlation between caloric testing response patterns with respect to cochlear impairment in individuals with unilateral Ménière's disease.

Methods: In this observational cross-sectional study, the factor under study was Ménière's disease and the outcome was cochleovestibular function, evaluated through caloric stimulation using videonystagmography and four-frequency averages in pure tone audiometry.

Results: A total of 187 patients (equal sex distribution) who met the inclusion criteria were included.

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In this case series, we demonstrate how open-source software has been widely adopted as the primary health information system in many low- and middle-income countries, and for government-developed applications in high-income settings. We discuss the concept of Digital Global Goods and how the general approach of releasing software developed through public funding under open-source licences could improve the delivery of healthcare in all settings through increased transparency and collaboration as well as financial efficiency.

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To achieve interoperability of health data, stakeholders must overcome various socio-technical challenges. The "Mind the GAPS, Fill the GAPS" framework was created by the Asia eHealth Information Network (AeHIN) in 2017 to help countries with their challenges with interoperability. A year later, AeHIN formed the Community of Interoperability Labs (COIL), a group of labs from six countries to share knowledge and resources.

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Anthocyanins are a type of flavonoids that give plants and fruits their vibrant colors. They are known for their potent antioxidant properties and have been linked to various health benefits. Upon consumption, anthocyanins are quickly absorbed and can penetrate the blood-brain barrier (BBB).

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Current methods to evaluate a journal's impact rely on the downstream citation mapping used to generate the Impact Factor. This approach is a fragile metric prone to being skewed by outlier values and does not speak to a researcher's contribution to furthering health outcomes for all populations. Therefore, we propose the implementation of a Diversity Factor to fulfill this need and supplement the current metrics.

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Introduction: Globally, the rate of opioid prescription is high for chronic musculoskeletal conditions despite guidelines recommending against their use as their adverse effects outweigh their modest benefit. Deprescribing opioids is a complex process that can be hindered by multiple prescriber- and patient-related barriers. These include fear of the process of, or outcomes from, weaning medications, or a lack of ongoing support.

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The availability of large, deidentified health datasets has enabled significant innovation in using machine learning (ML) to better understand patients and their diseases. However, questions remain regarding the true privacy of this data, patient control over their data, and how we regulate data sharing in a way that that does not encumber progress or further potentiate biases for underrepresented populations. After reviewing the literature on potential reidentifications of patients in publicly available datasets, we argue that the cost-measured in terms of access to future medical innovations and clinical software-of slowing ML progress is too great to limit sharing data through large publicly available databases for concerns of imperfect data anonymization.

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Polyglutamine diseases are a group of neurodegenerative disorders caused by an abnormal expansion of CAG repeat tracts in the codifying regions of nine, otherwise unrelated, genes. While the protein products of these genes are suggested to play diverse cellular roles, the pathogenic mutant proteins bearing an expanded polyglutamine sequence share a tendency to self-assemble, aggregate and engage in abnormal molecular interactions. Understanding the shared paths that link polyglutamine protein expansion to the nervous system dysfunction and the degeneration that takes place in these disorders is instrumental to the identification of targets for therapeutic intervention.

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Objective.: To evaluate in silico and at the serological level the antigenic potential of the recombinant extracellular domain of the lipopolysaccharide assembly protein - D (LptD) of Bartonella bacilliformis (dexr_LptD).

Materials And Methods.

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Objective: To assess the impact of open-source projects on making healthcare systems more resilient, accessible and equitable.

Methods: In response to the International Medical Informatics Association (IMIA) call for working group contributions for the IMIA Yearbook, the Open Source Working Group (OSWG) conducted a rapid review of current open source digital health projects to illustrate how they can contribute to making healthcare systems more resilient, accessible and equitable. We sought case studies from the OSWG membership to illustrate these three concepts and how open source software (OSS) addresses these concepts in the real world.

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Background: COVID-19 is an ongoing global pandemic caused by SARS-CoV-2. As of June 2021, 5 emergency vaccines were available for COVID-19 prevention, and with the improvement of vaccination rates and the resumption of activities in each country, verification of vaccination has become an important issue. Currently, in most areas, vaccination and reverse transcription polymerase chain reaction (RT-PCR) test results are certified and validated on paper.

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Spinocerebellar ataxia type 2 (SCA2) is an incurable and genetic neurodegenerative disorder. The disease is characterized by progressive degeneration of several brain regions, resulting in severe motor and non-motor clinical manifestations. The mutation causing SCA2 disease is an abnormal expansion of CAG trinucleotide repeats in the ATXN2 gene, leading to a toxic expanded polyglutamine segment in the translated ataxin-2 protein.

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Stress granules (SGs) are membraneless cell compartments formed in response to different stress stimuli, wherein translation factors, mRNAs, RNA-binding proteins (RBPs) and other proteins coalesce together. SGs assembly is crucial for cell survival, since SGs are implicated in the regulation of translation, mRNA storage and stabilization and cell signalling, during stress. One defining feature of SGs is their dynamism, as they are quickly assembled upon stress and then rapidly dispersed after the stress source is no longer present.

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Objectives: The emerging COVID-19 pandemic has caused one of the world's worst health disasters compounded by social confusion with misinformation, the so-called "Infodemic". In this paper, we discuss how open technology approaches - including data sharing, visualization, and tooling - can address the COVID-19 pandemic and infodemic.

Methods: In response to the call for participation in the 2020 International Medical Informatics Association (IMIA) Yearbook theme issue on Medical Informatics and the Pandemic, the IMIA Open Source Working Group surveyed recent works related to the use of Free/Libre/Open Source Software (FLOSS) for this pandemic.

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Background: COVID-19 has affected more than 180 countries and is the first known pandemic to be caused by a new virus. COVID-19's emergence and rapid spread is a global public health and economic crisis. However, investigations into the disease, patient-tracking mechanisms, and case report transmissions are both labor-intensive and slow.

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Polyglutamine (polyQ) diseases are a group of inherited neurodegenerative disorders caused by the expansion of the cytosine-adenine-guanine (CAG) repeat. This mutation encodes extended glutamine (Q) tract in the disease protein, resulting in the alteration of its conformation/physiological role and in the formation of toxic fragments/aggregates of the protein. This group of heterogeneous disorders shares common molecular mechanisms, which opens the possibility to develop a pan therapeutic approach.

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Article Synopsis
  • The COVID-19 pandemic has posed challenges for medical teams managing acute stroke patients, who may not show typical COVID-19 symptoms, making timely intervention essential without sacrificing safety.
  • The stroke team evaluated pre-pandemic protocols and identified challenges during the pandemic, leading to the development of a revised acute stroke care algorithm tailored to local resources and practices.
  • The new algorithm emphasizes coordination among healthcare professionals, the effective use of personal protective equipment, and the integration of telemedicine, thus improving resource management and stroke care during the pandemic, potentially benefiting other settings with similar limitations.
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Background: Healthcare organisations are undergoing a major transformational shift in the use of information and digital health technologies. Enterprise architecture (EA) has been incrementally adopted in many healthcare organisations globally to facilitate this change. EA can increase the effectiveness of an organisation's digital health capabilities and resources.

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Objective: Compromised brain cholesterol turnover and altered regulation of brain cholesterol metabolism have been allied with some neurodegenerative diseases, including Huntington's disease (HD). Following our previous studies in HD, in this study we aim to investigate in vitro in a neuroblastoma cellular model of HD, the effect of CYP46A1 overexpression, an essential enzyme in cholesterol metabolism, on huntingtin aggregation and levels.

Results: We found that CYP46A1 reduces the quantity and size of mutant huntingtin aggregates in cells, as well as the levels of mutant huntingtin protein.

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The extracellular matrix fragment perlecan domain V is neuroprotective and functionally restorative following experimental stroke. As neurogenesis is an important component of chronic post-stroke repair, and previous studies have implicated perlecan in developmental neurogenesis, we hypothesized that domain V could have a broad therapeutic window by enhancing neurogenesis after stroke. We demonstrated that domain V is chronically increased in the brains of human stroke patients, suggesting that it is present during post-stroke neurogenic periods.

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A Reverse Transcription Loop-mediated Isothermal Amplification (RT-LAMP) method was developed to detect Zika. The primers were designed based on the NS5 region of 64 complete genomes. Lyophilized LAMP reagent was used.

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Introduction: Ethnic-racial identity (ERI) is an important developmental process for ethnic-racial minority youth. However, little is known about how adverse life experiences may be related to ERI development. Thus, the current study evaluated prospective associations of emancipated foster youth's histories of childhood maltreatment and foster placement disruption with ERI centrality and ERI private regard, as well as the adaptive implications of ERI.

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Spinocerebellar ataxias (SCAs) are devastating neurodegenerative disorders for which no curative or preventive therapies are available. Deregulation of brain cholesterol metabolism and impaired brain cholesterol turnover have been associated with several neurodegenerative diseases. SCA3 or Machado-Joseph disease (MJD) is the most prevalent ataxia worldwide.

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