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Hutchinson–Gilford progeria syndrome (HGPS) is a rare congenital disease caused by mutations in the LMNA gene. Children with HGPS are phenotypically characterized by lipodystrophy, short height, low body weight, scleroderma, reduced joint mobility, osteolysis, senile facial features, and cardiovascular compromise that usually lead to death. We aimed to describe the case of a patient who reached above-average age expectancy for children with HGPS in Latin America and describe the clinical and molecular characteristics of the patient. A 14-year-old female patient was presented with progeria-compatible phenotypic characteristics. HGPS was confirmed via LMNA gene sequencing that detected a heterozygous c.1824C>T (p.Gly608Gly) mutation. The primary aim is to describe the HGPS case, the molecular gene mutation finding, and make a short review of the limited available treatment options for children with HGPS. Such as the farnesyl transferase inhibitors in conjunction with other pharmacological therapies that have insinuated improvement in health, and survival rate. [ABSTRACT FROM AUTHOR]

Background: Malaria transmission in Latin America is typically characterized as hypo-endemic and unstable with ~170 million inhabitants at risk of malaria infection. Although Colombia has witnessed an important decrease in malaria transmission, the disease remains a public health problem with an estimated ~10 million people currently living in areas with malaria risk and ~61,000 cases reported in 2012. This study aimed to establish the malaria prevalence in three endemic regions of Colombia to aid in designing new interventions for malaria elimination. Methods: A cross-sectional survey was conducted in three regions of Colombia with different malaria epidemiological profiles: Tierralta (Ta), Tumaco (Tu) and Buenaventura (Bv). The Annual Parasite Index (API) was 10.7, 6.9 and 3.1, respectively. Participants were asked to respond to a sociodemographic questionnaire and then were bled to determine the Duffy genotype and the prevalence of malaria infection by microscopy and quantitative real-time PCR (qPCR). Results: The study was conducted between October 2011 and January 2012. Eight sentinel sites with 1,169 subjects from 267 households were included. The overall prevalence of sub-microscopic infections measured by thick blood smear (TBS) was 0.3% (n = 4) whereas by qPCR it was 9.7% (n = 113), with a greater proportion (13%) in 40-50 years old individuals. Furthermore, different regions displayed different prevalence of sub-microscopic infections: Bv 12%, Ta 15%, and Tu 4%. From these 113 samples (qPCR), 74% were positive for P. vivax and 22% for P. falciparum, and 4% were mixed infections, which correlates to the overall parasite prevalence in Colombia. This study showed that in the southern Pacific coast of Colombia (Bv and Tu), around 56% of the population have a Duffy-negative genotype, compared to the northern region (Ta) where the percentage of Duffy-negative genotype is around 3%. Conclusions: Sub-microscopic infections are prevalent across different regions in Colombia, particularly in areas with relatively low transmission intensity. The poor microscopy results suggest the need for more sensitive diagnostic tools for detection of sub-microscopic infections. This study underscores the importance of conducting active case surveillance to more accurately determine malaria incidence, and highlights the need for updating the malaria guidelines to track and treat sub-microscopic malaria infections. [ABSTRACT FROM AUTHOR]

Silva, R.; Martínez, M.L.; Hesp, P.; Catalan, P.; Osorio, A. F.; Martell, R.; Fossati, M.; Miot da Silva, G.; Mariño-Tapia, I.; Pereira, P.; Cienfuegos, R.; Klein, A., and Govaere, G., 2014. Present and future challenges of coastal erosion in Latin America. The coastal zones of Latin America have many landforms and environments, including sedimentary cliffs, deeply incised estuaries, headlands, barrier coasts and low lying, muddy coastal plains. These forms will respond differently to the expected changes in climate and associated sea level rise, which may produce coastal erosion in the future. Considering the coasts of Latin America overall, erosion is not yet a serious threat, although it is widespread and it is severe in some parts. Major erosion problems are frequently associated with human intervention in sediment supply, with poor planning or with the morphodynamic nature of the coast. Permanent erosional processes, locally or regionally, are caused by tectonic subsidence, deforestation and the fragmentation of coastal ecosystems, land use changes and sediment deficits because of infrastructure built along the coast. In this article we analyse coastal erosion in Latin America and the challenges it presents to the region. We first highlight the relevance of Latin America in terms of its biodiversity; then we describe the population at risk, demographic trends and economic growth throughout the low lying coastal zones. We also examine the vulnerability of the region by analyzing the resilience of key coastal ecosystems after exposure to the most frequent hazards that affect coastal zones in Latin America, namely tropical cyclones, sea level rise, ocean acidification, earthquakes and tsunamis. Finally, we discuss seven case studies of coastal erosion across Latin America. We close the study by pinpointing the main areas of concern in Latin America and explore possible strategies to overcome erosion and thus sustain economic growth, minimize population risk and maintain biodiversity. [ABSTRACT FROM AUTHOR]

Background and Objective: Awake craniotomy (AC) is a valuable technique for surgical interventions in eloquent areas, but its adoption in low- and middle-income countries faces challenges like limited infrastructure, trained personnel shortage, and inadequate funding. This scoping review explores AC techniques in Latin American countries, focusing on patient characteristics, tumor location, symptomatology, and outcomes., Methods: A scoping review followed PRISMA guidelines, searching five databases in English, Spanish, and Portuguese. We included 28 studies with 258 patients (mean age: 43, range: 11-92). Patterns in AC use in Latin America were analyzed., Results: Most studies were from Brazil and Mexico (53.6%) and public institutions (70%). Low-grade gliomas were the most common lesions (55%), most of them located in the left hemisphere (52.3%) and frontal lobe (52.3%). Gross-total resection was achieved in 34.3% of cases. 62.9% used an Asleep-Awake-Asleep protocol, and 14.8% used Awake-Awake-Awake. The main complication was seizures (14.6%). Mean post-surgery discharge time was 68 h. Challenges included limited training, infrastructure, and instrumentation availability. Strategies discussed involve training in specialized centers, seeking sponsorships, applying for awards, and multidisciplinary collaborations with neuropsychology., Conclusion: Improved accessibility to resources, infrastructure, and adequate instrumentation is crucial for wider AC availability in Latin America. Despite disparities, AC implementation with proper training and teamwork yields favorable outcomes in resource-limited centers. Efforts should focus on addressing challenges and promoting equitable access to this valuable surgical technique in the region., (© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Challenges of health systems in Latin America and the Caribbean include accessibility, inequity, segmentation, and poverty. These challenges are similar in different countries of the region and transcend national borders. The increasing digital transformation of health care holds promise of more precise interventions, improved health outcomes, increased efficiency, and ultimately reduced health-care costs. In Latin America and the Caribbean, the adoption of digital health tools is in early stages and the quality of cancer registries, electronic health records, and structured databases are problematic. Cancer research and innovation in the region are limited due to inadequate academic resources and translational research is almost fully dependent on public funding. Regulatory complexity and extended timelines jeopardise the potential improvement in participation in international studies. Emerging technologies, artificial intelligence, big data, and cancer research represent an opportunity to address the health-care challenges in Latin America and the Caribbean collectively, by optimising national capacities, sharing and comparing best practices, and transferring scientific and technical capabilities., Competing Interests: Declaration of Interests CHB reports institutional research grant from Pfizer, Pharma Mar, Polyphor, Henlius Biotech, Merck KGaA, Millennium, LEO Pharma, ImClone Systems, Exelixis, Medivation, Asana Biosciences, AB Science, Abraxis Biosciences, Daiichi Sankyo, Bristol Myers Squibb, BioMarin, Astellas Pharma, AbbVie, Merck Sharp & Dohme, Merrimack, Mylan, Taiho Pharmaceutical, Sanofi, GlaxoSmithKline, Roche/Genentech, Lilly, Boehringer Ingelheim, Novartis, AstraZeneca, and Amgen; advisory board consulting from Boehringer Ingelheim, Sanofi, Lilly, Zodiac, AstraZeneca, Merck Sharp & Dohme, Bayer, Eisai, Roche/Genentech, Pfizer, Novartis, and GlaxoSmithKline; and stocks from MedSIR, Biomarker, and Tummi, outside the submitted work; he declares no relevant conflicts of interests related to this Series paper. AFC declares financial research support from Merck Sharp & Dohme, Boehringer Ingelheim, Roche, Bristol Myers Squibb, and The Foundation for Clinical and Applied Cancer Research (FICMAC); he received honoraria as advisor, participated in speakers’ bureau, and gave expert testimony to Merck Sharp & Dohme, Boehringer Ingelheim, Roche, Bristol Myers Squibb, Pfizer, Novartis, Celldex Therapeutics, Foundation Medicine, Eli Lilly, and FICMAC. CR reports grants or contracts from Pfizer–Lung Cancer Research Foundation (for the EMPOWER ME trial); consulting fees (for advisory board) from ArcherDX, Bristol Myers Squibb, Novartis, and Boston Pharmaceuticals; payment or honoraria for educational events from AstraZeneca, Roche, and Merck Sharp & Dohme; participation on a safety monitoring board from MD Serono; leadership or fiduciary role in other board, society, committee or advocacy group, paid or unpaid from the International Society of Liquid Biopsy (Vice President), the International Association for the Study of Lung Cancer (Deputy Chair of the Educational Committee), European School of Oncology (Scientific Board Member), the European Society for Medical Oncology (Faculty of Advanced Lung Cancer), and research support (unpaid) from Guardant Health. EdA reports research support and grants from Roche; and grants from Libbs, Pierre Fabre, Zodiacs, Seattle Genetics, Novartis, Roche, Servier, AstraZeneca, and GlaxoSmithKline, outside the submitted work. OA reports personal fees from Pfizer, Lilly, Merck, and Bristol Myers Squibb; and grants and personal fees from AstraZeneca, Boehringer Ingelheim, and Roche, outside the submitted work. RD declares advisory role for Roche and Boehringer Ingelheim; speaker's fees from Roche, Ipsen, Amgen, Servier, Sanofi, Libbs, and Merck Sharp & Dohme; and research grants from Merck and Pierre Fabre, outside the submitted work. EC reports honoraria for lectures and consulting or advisory role from Merck outside the submitted work. All other authors declare no competing interests., (Copyright © 2021 Elsevier Ltd. All rights reserved.)

Inherited lung cancer risk, particularly in nonsmokers, is poorly understood. Genomic and ancestry analysis of 1,153 lung cancers from Latin America revealed striking associations between Native American ancestry and their somatic landscape, including tumor mutational burden, and specific driver mutations in EGFR, KRAS , and STK11 . A local Native American ancestry risk score was more strongly correlated with EGFR mutation frequency compared with global ancestry correlation, suggesting that germline genetics (rather than environmental exposure) underlie these disparities. SIGNIFICANCE: The frequency of somatic EGFR and KRAS mutations in lung cancer varies by ethnicity, but we do not understand why. Our study suggests that the variation in EGFR and KRAS mutation frequency is associated with genetic ancestry and suggests further studies to identify germline alleles that underpin this association. See related commentary by Gomez et al., p. 534 . This article is highlighted in the In This Issue feature, p. 521 ., (©2020 American Association for Cancer Research.)

Ciclovía Recreativa is a program in which streets are closed off to automobiles so that people have a safe and inclusive space for recreation and for being physically active. The study aims were: (1) to compare participant's spatial trajectories in four Ciclovía Recreativa programs in Latin America (Bogotá, Mexico City, Santiago de Cali, and Santiago de Chile) according to socioeconomic characteristics and urban segregation of these cities; and (2) to assess the relationship between participants' physical activity (PA) levels and sociodemographic characteristics. We harmonized data of cross-sectional studies including 3282 adults collected between 2015 and 2019. We found the highest mobility for recreation in Bogotá, followed closely by Santiago de Cali. In these two cities, the maximum SES (socioeconomic status) percentile differences between the neighborhood of origin and the neighborhoods visited as part of the Ciclovía use were 33.58 ( p -value < 0.001) and 30.38 ( p -value < 0.001), respectively, indicating that in these two cities, participants were more likely to visit higher or lower SES neighborhoods than their average SES-of-neighborhood origin. By contrast, participants from Mexico City and Santiago de Chile were more likely to stay in geographic units similar to their average SES-of-origin, having lower overall mobility during leisure time: maximum SES percentile difference 1.55 ( p -value < 0.001) and -0.91 ( p -value 0.001), respectively. PA levels of participants did not differ by sex or SES. Our results suggest that Ciclovía can be a socially inclusive program in highly unequal and segregated urban environments, which provides a space for PA whilefacilitat physical proximity, exposure to new communities and environments, and interactions between different socioeconomic groups.

Effective networking and mentoring are critical determinants of professional satisfaction and success in oncology. There are multiple benefits associated with established mentoring programs. However, these are scarce in Latin America (LATAM). The AAZPIRE project meeting was held to encourage the discussion of mentorship strategies in our region, to create new learning frameworks, and improve cancer care. A group of 30 young oncologists and investigators, together with seven members of LACOG and CLICaP experts of 8 LATAM countries, were reunited to share views and define opportunities, barriers, and possible solutions to implement mentorship programs in LATAM. For each of the mentioned topics, key points were obtained by consensus, and a literature review was conducted to support group conclusions. This article analyses mentoring in LATAM countries and its role on promoting leadership. It will address conceptual frameworks, limitations, and opportunities from the perspectives of both mentor and mentee. The creation of regional and international group stimulation programs and joint projects that impact health policies are attractive, starting points to implement mentorship scenarios., Competing Interests: Competing interests: None declared., (© Author (s) (or their employer(s)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. Published by BMJ on behalf of the European Society for Medical Oncology.)

Background: Malaria is a parasitic disease of high global impact in public health, including Latin America. There should be more researched, particularly in this region. A bibliometric assessment of the Latin American contributions about malaria was done., Methods: Bibliometric study at SCI (1980-2013), MEDLINE/ GOPUBMED (1802-2013), Scopus (1959-2013), SCIELO (2004-2013), LILACS (1980-2013). The studies were characterized by study type, year of publication, city/country of origin, journals and more productive authors, citations and H index., Results: At SCI, 2,806 articles were retrieved (5.13% of the total). Brazil was the highest producer (31.41%), followed by Colombia (14.3%) and Mexico (9.5%). The region received 39,894 citations, 32.2% from Brazil (H index=51), 12.75% Mexico (H index=38), 11.2% Colombia (H index=33). At Scopus, there are 4,150 articles (4.9% of the total), 33.0% Brazil, 11.3% Colombia and 8.8% Mexico; 17% in Brazil were from Universidad de São Paulo; 23.6% of Colombia from Universidad de Antioquia; 15.4% of Mexico from Instituto Nacional de Salud Pública. At Medline there were 4,278 records (36.8% Brazil). At SciELO there are 792 records (45.3% Brazil). At LILACS there were 1744 records (34.3% Brazil)., Conclusions: Brazil has the highest output of the region, as Venezuela the scientific production in Malaria was related with the burden of disease. This was not the case for Colombia. Scientific production at bibliographical databases, particularly regionals, is low, compared to the high incidence of this disease that requires more research and control.

Chagas disease, considered a parasitic neglected disease, is endemic in Latin America. Although, its mortality rate has decreased over time, it still represents a public health problem in the region. A bibliometric evaluation of the Latin American contributions on this disease was done. This study used SCI (1980-2013), MEDLINE/GOPUBMED (1802-2013), Scopus (1959-2013), SCIELO (2004-2013), and LILACS (1980-2013). Different study types have been characterized by years, origin city/country, journals and most productive authors, by country, cites and H-index. 2988 articles were retrieved from SCI (30.85% of total). Brazil was found to be the highest producer (31.22%), followed by Argentina (18.14%) and México (9.57%); the region received 47241 citations, 28.60% for Brazil (H-index=52), 18.26% of Argentina (Hindex= 43), 11.40% Bolivia (H-index=37). 4484 were retrieved from Scopus (30.20% of the total), 38.58% of which were from Brazil, 12.40% from Argentina and 8.90% from Mexico. From Medline, 6647 records were retrieved (45.58% Brazil). From SciELO, 917 articles (47.66% Brazil). From LILACS, 2165 articles (60.05% Brazil). Brazil has the highest output in the region. Despite advances in controlling Chagas disease, scientific production is low, particularly for regional bibliographic databases, which calls for more research on this disease.