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Validation of an NGS Panel Designed for Detection of Actionable Mutations in Tumors Common in Latin America
(2021)
Mauricio Salvo
;
Evelin González-Feliú
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Jessica Toro
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Iván Gallegos
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Ignacio Maureira
<jats:p>Next-generation sequencing (NGS) is progressively being used in clinical practice. However, several barriers preclude using this technology for precision oncology in most Latin American countries. To overcome some of these barriers, we have designed a 25-gene panel that contains predictive biomarkers for most current and near-future available therapies in Chile and Latin America. Library preparation was optimized to account for low DNA integrity observed in formalin-fixed paraffin-embedded tissue. The workflow includes an automated bioinformatic pipeline that accounts for the underrepresentation of Latin Americans in genome databases. The panel detected small insertions, deletions, and single nucleotide variants down to allelic frequencies of 0.05 with high sensitivity, specificity, and reproducibility. The workflow was validated in 272 clinical samples from several solid tumor types, including gallbladder (GBC). More than 50 biomarkers were detected in these samples, mainly in BRCA1/2, KRAS, and PIK3CA genes. In GBC, biomarkers for PARP, EGFR, PIK3CA, mTOR, and Hedgehog signaling inhibitors were found. Thus, this small NGS panel is an accurate and sensitive method that may constitute a more cost-efficient alternative to multiple non-NGS assays and costly, large NGS panels. This kind of streamlined assay with automated bioinformatics analysis may facilitate the implementation of precision medicine in Latin America.</jats:p>
2Scopus© Citations 13
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Evaluating a Memory Clinic Using the RE-AIM Model. The Experience of the “Memory and Neuropsychiatry Clinic” in Hospital Del Salvador, Chile
(2021)
Tomas Leon
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Loreto Castro
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Franco Mascayano
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Brian Lawlor
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SLACHEVSKY CHONCHOL, ANDREA MARÍA
<jats:p>The development of healthcare services for dementia is key to improving access to care and post-diagnostic support for people living with dementia. Memory Units have emerged as a new healthcare service composed of multidisciplinary teams with the goal of improving diagnosis and/or management of dementia patients. The main objective of this study was to describe and evaluate the Reach and Effectiveness of a Memory Unit in a public hospital in Chile, using the RE-AIM model, a multi-component model that allows for the evaluation of the implementation of ongoing healthcare programs. Regarding “R” (Reach): from March 2018 up to June 2019, a total of 510 patients were referred and assessed. Most patients came from primary care (51.9%) and from outpatient services at the Hospital Salvador (39.2%), particularly from the Neurology (63.3%) and Psychiatry (16.0%) departments. We estimated that our Memory Unit assessed 5.39% of all of the dementia patients living in the area of referral. With respect to “E” (Effectiveness): 419 patients are still being followed up at the Memory Unit. Ninety-one patients (18%) were discharged. Of these, 55 (66%) were referred to primary healthcare, 28 (31%) to other outpatient services, 9 (10%) to a specialized mental healthcare center, and 9 (10%) to a daycare center. Due to the short period of time that the Memory Unit has been operating, no other RE-AIM dimensions could be evaluated at this juncture. To our knowledge, this is the first implementation study of a Memory Unit in Latin America, and the first using the RE-AIM model. Although cultural differences worldwide might play a role in the lack of international guidelines, the publication of the experience of the first year of this unit in Chile could inform new countries about this process. Ongoing challenges include continuing to collect data to complement the RE-AIM evaluation and developing a protocol that can be adopted elsewhere in Chile and Latin America. Further studies are needed to assess the benefits of a Memory Unit in comparison to regular care and to develop a model that assures continuity and coordination of care for people with dementia.</jats:p>
Scopus© Citations 8 2
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Frontotemporal Dementias in Latin America: History, Epidemiology, Genetics, and Clinical Research
(2021)
Jorge J. Llibre-Guerra
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BEHRENS PELLEGRINO, MARIA ISABEL
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Mirna Lie Hosogi
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Lucia Montero
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Teresa Torralva
<jats:p><jats:bold>Introduction:</jats:bold> The historical development, frequency, and impact of frontotemporal dementia (FTD) are less clear in Latin America than in high-income countries. Although there is a growing number of dementia studies in Latin America, little is known collectively about FTD prevalence studies by country, clinical heterogeneity, risk factors, and genetics in Latin American countries.</jats:p><jats:p><jats:bold>Methods:</jats:bold> A systematic review was completed, aimed at identifying the frequency, clinical heterogeneity, and genetics studies of FTD in Latin American populations. The search strategies used a combination of standardized terms for FTD and related disorders. In addition, at least one author per Latin American country summarized the available literature. Collaborative or regional studies were reviewed during consensus meetings.</jats:p><jats:p><jats:bold>Results:</jats:bold> The first FTD reports published in Latin America were mostly case reports. The last two decades marked a substantial increase in the number of FTD research in Latin American countries. Brazil (165), Argentina (84), Colombia (26), and Chile (23) are the countries with the larger numbers of FTD published studies. Most of the research has focused on clinical and neuropsychological features (<jats:italic>n</jats:italic> = 247), including the local adaptation of neuropsychological and behavioral assessment batteries. However, there are little to no large studies on prevalence (<jats:italic>n</jats:italic> = 4), biomarkers (<jats:italic>n</jats:italic> = 9), or neuropathology (<jats:italic>n</jats:italic> = 3) of FTD.</jats:p><jats:p><jats:bold>Conclusions:</jats:bold> Future FTD studies will be required in Latin America, albeit with a greater emphasis on clinical diagnosis, genetics, biomarkers, and neuropathological studies. Regional and country-level efforts should seek better estimations of the prevalence, incidence, and economic impact of FTD syndromes.</jats:p>
Scopus© Citations 10 1
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Structural brain abnormalities in schizophrenia in adverse environments: examining the effect of poverty and violence in six Latin American cities
(2020)
Nicolas A. Crossley
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Andre Zugman
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Francisco Reyes-Madrigal
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Leticia S. Czepielewski
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Mariana N. Castro
<jats:title>Summary</jats:title><jats:sec id="S0007125020001439_sec_a1"><jats:title>Background</jats:title><jats:p>Social and environmental factors such as poverty or violence modulate the risk and course of schizophrenia. However, how they affect the brain in patients with psychosis remains unclear.</jats:p></jats:sec><jats:sec id="S0007125020001439_sec_a2"><jats:title>Aims</jats:title><jats:p>We studied how environmental factors are related to brain structure in patients with schizophrenia and controls in Latin America, where these factors are large and unequally distributed.</jats:p></jats:sec><jats:sec id="S0007125020001439_sec_a3" sec-type="methods"><jats:title>Method</jats:title><jats:p>This is a multicentre study of magnetic resonance imaging in patients with schizophrenia and controls from six Latin American cities. Total and voxel-level grey matter volumes, and their relationship with neighbourhood characteristics such as average income and homicide rates, were analysed with a general linear model.</jats:p></jats:sec><jats:sec id="S0007125020001439_sec_a4" sec-type="results"><jats:title>Results</jats:title><jats:p>A total of 334 patients with schizophrenia and 262 controls were included. Income was differentially related to total grey matter volume in both groups (<jats:italic>P</jats:italic> = 0.006). Controls showed a positive correlation between total grey matter volume and income (<jats:italic>R</jats:italic> = 0.14, <jats:italic>P</jats:italic> = 0.02). Surprisingly, this relationship was not present in patients with schizophrenia (<jats:italic>R</jats:italic> = −0.076, <jats:italic>P</jats:italic> = 0.17). Voxel-level analysis confirmed that this interaction was widespread across the cortex. After adjusting for global brain changes, income was positively related to prefrontal cortex volumes only in controls. Conversely, the hippocampus in patients with schizophrenia, but not in controls, was relatively larger in affluent environments. There was no significant correlation between environmental violence and brain structure.</jats:p></jats:sec><jats:sec id="S0007125020001439_sec_a5" sec-type="conclusions"><jats:title>Conclusions</jats:title><jats:p>Our results highlight the interplay between environment, particularly poverty, and individual characteristics in psychosis. This is particularly important for harsh environments such as low- and middle-income countries, where potentially less brain vulnerability (less grey matter loss) is sufficient to become unwell in adverse (poor) environments.</jats:p></jats:sec>
Scopus© Citations 10 1
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Pharmacogenetics in Psychiatry: Perceived Value and Opinions in a Chilean Sample of Practitioners
(2021)
UNDURRAGA FOURCADE, JUAN PABLO
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Ignacio Bórquez-Infante
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Nicolás A. Crossley
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Miguel L. Prieto
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REPETTO LISBOA, MARIA GABRIELA
<jats:p>Use of pharmacogenetics (PGx) testing to guide clinical decisions is growing in developed countries. Published guidelines for gene–drug pair analysis are available for prescriptions in psychiatry, but information on their utilization, barriers, and health outcomes in Latin America is limited. As a result, this work aimed at exploring current use, opinions, and perceived obstacles on PGx testing among psychiatrists in Chile, via an online, anonymous survey. Among 123 respondents (5.9% of registered psychiatrists in the country), 16.3% reported ever requesting a PGx test. The vast majority (95%) of tests were ordered by clinicians practicing in the Metropolitan Region of Santiago. Having more than 20 years in practice was positively associated with prior use of PGx (p 0.02, OR 3.74 (1.19–11.80)), while working in the public health system was negatively associated (OR 0.30 (0.10–0.83)). Perceived barriers to local implementation included insufficient evidence of clinical utility, limited clinicians’ knowledge on PGx and on test availability, and health systems’ issues, such as costs and reimbursement. Despite the recognition of these barriers, 80% of respondents asserted that it is likely that they will incorporate PGx tests in their practice in the next five years. Given these results, we propose next steps to facilitate implementation such as further research in health outcomes and clinical utility of known and novel clinically actionable variants, growth in local sequencing capabilities, education of clinicians, incorporation of clinical decision support tools, and economic evaluations, all in local context.</jats:p>
1Scopus© Citations 10
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Systematic Review: Genetic, Neuroimaging, and Fluids Biomarkers for Frontotemporal Dementia Across Latin America Countries
(2021)
Claudia Duran-Aniotz
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Paulina Orellana
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Tomas Leon Rodriguez
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Victoria Cabello
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Fernando Henriquez
<jats:p>Frontotemporal dementia (FTD) includes a group of clinically, genetically, and pathologically heterogeneous neurodegenerative disorders, affecting the fronto-insular-temporal regions of the brain. Clinically, FTD is characterized by progressive deficits in behavior, executive function, and language and its diagnosis relies mainly on the clinical expertise of the physician/consensus group and the use of neuropsychological tests and/or structural/functional neuroimaging, depending on local availability. The modest correlation between clinical findings and FTD neuropathology makes the diagnosis difficult using clinical criteria and often leads to underdiagnosis or misdiagnosis, primarily due to lack of recognition or awareness of FTD as a disease and symptom overlap with psychiatric disorders. Despite advances in understanding the underlying neuropathology of FTD, accurate and sensitive diagnosis for this disease is still lacking. One of the major challenges is to improve diagnosis in FTD patients as early as possible. In this context, biomarkers have emerged as useful methods to provide and/or complement clinical diagnosis for this complex syndrome, although more evidence is needed to incorporate most of them into clinical practice. However, most biomarker studies have been performed using North American or European populations, with little representation of the Latin American and the Caribbean (LAC) region. In the LAC region, there are additional challenges, particularly the lack of awareness and knowledge about FTD, even in specialists. Also, LAC genetic heritage and cultures are complex, and both likely influence clinical presentations and may modify baseline biomarker levels. Even more, due to diagnostic delay, the clinical presentation might be further complicated by both neurological and psychiatric comorbidity, such as vascular brain damage, substance abuse, mood disorders, among others. This systematic review provides a brief update and an overview of the current knowledge on genetic, neuroimaging, and fluid biomarkers for FTD in LAC countries. Our review highlights the need for extensive research on biomarkers in FTD in LAC to contribute to a more comprehensive understanding of the disease and its associated biomarkers. Dementia research is certainly reduced in the LAC region, highlighting an urgent need for harmonized, innovative, and cross-regional studies with a global perspective across multiple areas of dementia knowledge.</jats:p>
1 2Scopus© Citations 23
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Epidemiology of Parkinson’s Disease in Chile
(2021)
VIAL UNDURRAGA, FELIPE AGUSTIN
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DELGADO BECERRA, OROZIMBA IRIS
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Francisca Canal
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IDIAQUEZ RIOS, JUAN FRANCISCO
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Pedro Chana-Cuevas
<jats:p>Introduction: Parkinson’s disease (PD) is one of the most common neurodegenerative disorders. There is no epidemiological description of PD in Chile and not many descriptions in Latin America. This study aims to describe the incidence and prevalence of PD in Chile. Methods: The study group was the population on the public health system in Chile between 2010 and 2018 that were registered in the GES system as having PD. Crude and standardized prevalence and incidence were calculated with a 95% confidence interval. Results: 33,345 patients were found in the register as confirmed cases with PD. The crude incidence in 2018 was 23.7/100,000; the crude prevalence in 2018 was 160.7/100,000. The male-to-female ratio was 1.03. Conclusion: The prevalence and incidence observed in the Chilean population are consistent with studies from other countries. </jats:p>
Scopus© Citations 8 114
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Unequal Access and Use of Health Care Services among Settled Immigrants, Recent Immigrants, and Locals: A Comparative Analysis of a Nationally Representative Survey in Chile
(2022)
Marcela Oyarte
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CABIESES VALDES, BALTICA BEATRIZ
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Isabel Rada
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Alice Blukacz
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Manuel Espinoza
<jats:p>Globally, and particularly in the Latin American region, international migration continues to grow. Access and use of health care services by migrants vary according to their country of origin and residence time. We aimed to compare the access and use of health care services between international migrants (including settled migrants from Peru, Argentina, Bolivia, Ecuador; Emerging migrants from Venezuela, Dominican Republic, Colombia, Haiti; and migrants from other countries) and the Chilean population. After performing a secondary data analysis of population-based nationally representative surveys (CASEN 2011–2017), access and use patterns (insurance, complementary insurance, non-consultation, and non-treatment coverage) were described and compared among settled immigrants, recent emerging immigrants, others, and locals. Immigrants had a significantly higher uninsured population compared to locals. Specifically, in CASEN 2017, 19.27% of emerging (95% CI: 15.3–24.1%), 11.79% of settled (95% CI: 10.1–13.7%), and 2.25% of locals (95% CI: 2.1–2.4%) were uninsured. After 2013, settled and recent emerging migrants showed higher percentages of non-consultation. Collaborative and interculturally relevant strategies from human rights and equity perspectives are needed. Initiatives with a particular focus on recent immigrants can contribute to reducing the existing disparities in health care access and use with locals due to lack of insurance and treatment coverage.</jats:p>
9Scopus© Citations 10
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Breaking Down Barriers: Findings from a Literature Review on Housing for People with Disabilities in Latin America
(2023)
VALDERRAMA ULLOA, CLAUDIA ALEJANDRA
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FERRADA CALVO, XIMENA VERÓNICA
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Felipe Herrera
Accessibility to housing is crucial for people with disabilities as it provides them with equal opportunities and allows them to live independently. A systematic literature review has been conducted to understand the current research on accessibility in housing for people with disabilities in Latin America. The study analysed 56 papers and used co-word analysis to identify common themes and topics within the documents. The results of the analysis showed that Brazil (61%) is the country with the most research on the subject, physical disability, at 36%, is the impairment most analysed, and interventions or analysis for the older people (45%) in their homes is the most researched type of population. The co-word analysis revealed that topics such as policy, regulations, the use of technologies, ergonomics interventions, and architectural criteria or barriers to the daily life of disabled people were frequently discussed in the papers. Although this work shows a substantial and growing increase in research on housing for people with disabilities in Latin America, it also demonstrates the importance of increasing research on other types of impairment, such as visual and cognitive-intellectual disabilities, and including children, caregivers, or even young adults.
Scopus© Citations 3 9

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