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1.
N Engl J Med ; 390(23): 2156-2164, 2024 Jun 20.
Artigo em Inglês | MEDLINE | ID: mdl-38899694

RESUMO

BACKGROUND: Variants in APOE and PSEN1 (encoding apolipoprotein E and presenilin 1, respectively) alter the risk of Alzheimer's disease. We previously reported a delay of cognitive impairment in a person with autosomal dominant Alzheimer's disease caused by the PSEN1 E280A variant who also had two copies of the apolipoprotein E3 Christchurch variant (APOE3 Ch). Heterozygosity for the APOE3 Ch variant may influence the age at which the onset of cognitive impairment occurs. We assessed this hypothesis in a population in which the PSEN1 E280A variant is prevalent. METHODS: We analyzed data from 27 participants with one copy of the APOE3 Ch variant among 1077 carriers of the PSEN1 E280A variant in a kindred from Antioquia, Colombia, to estimate the age at the onset of cognitive impairment and dementia in this group as compared with persons without the APOE3 Ch variant. Two participants underwent brain imaging, and autopsy was performed in four participants. RESULTS: Among carriers of PSEN1 E280A who were heterozygous for the APOE3 Ch variant, the median age at the onset of cognitive impairment was 52 years (95% confidence interval [CI], 51 to 58), in contrast to a matched group of PSEN1 E280A carriers without the APOE3 Ch variant, among whom the median age at the onset was 47 years (95% CI, 47 to 49). In two participants with the APOE3 Ch and PSEN1 E280A variants who underwent brain imaging, 18F-fluorodeoxyglucose positron-emission tomographic (PET) imaging showed relatively preserved metabolic activity in areas typically involved in Alzheimer's disease. In one of these participants, who underwent 18F-flortaucipir PET imaging, tau findings were limited as compared with persons with PSEN1 E280A in whom cognitive impairment occurred at the typical age in this kindred. Four studies of autopsy material obtained from persons with the APOE3 Ch and PSEN1 E280A variants showed fewer vascular amyloid pathologic features than were seen in material obtained from persons who had the PSEN1 E280A variant but not the APOE3 Ch variant. CONCLUSIONS: Clinical data supported a delayed onset of cognitive impairment in persons who were heterozygous for the APOE3 Ch variant in a kindred with a high prevalence of autosomal dominant Alzheimer's disease. (Funded by Good Ventures and others.).


Assuntos
Idade de Início , Doença de Alzheimer , Apolipoproteína E3 , Heterozigoto , Presenilina-1 , Humanos , Doença de Alzheimer/genética , Presenilina-1/genética , Feminino , Masculino , Pessoa de Meia-Idade , Apolipoproteína E3/genética , Tomografia por Emissão de Pósitrons , Idoso , Encéfalo/patologia , Encéfalo/diagnóstico por imagem , Adulto , Genes Dominantes , Colômbia
2.
Nature ; 583(7817): 572-577, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32641827

RESUMO

The possibility of voyaging contact between prehistoric Polynesian and Native American populations has long intrigued researchers. Proponents have pointed to the existence of New World crops, such as the sweet potato and bottle gourd, in the Polynesian archaeological record, but nowhere else outside the pre-Columbian Americas1-6, while critics have argued that these botanical dispersals need not have been human mediated7. The Norwegian explorer Thor Heyerdahl controversially suggested that prehistoric South American populations had an important role in the settlement of east Polynesia and particularly of Easter Island (Rapa Nui)2. Several limited molecular genetic studies have reached opposing conclusions, and the possibility continues to be as hotly contested today as it was when first suggested8-12. Here we analyse genome-wide variation in individuals from islands across Polynesia for signs of Native American admixture, analysing 807 individuals from 17 island populations and 15 Pacific coast Native American groups. We find conclusive evidence for prehistoric contact of Polynesian individuals with Native American individuals (around AD 1200) contemporaneous with the settlement of remote Oceania13-15. Our analyses suggest strongly that a single contact event occurred in eastern Polynesia, before the settlement of Rapa Nui, between Polynesian individuals and a Native American group most closely related to the indigenous inhabitants of present-day Colombia.


Assuntos
Fluxo Gênico/genética , Genoma Humano/genética , Migração Humana/história , Indígenas Centro-Americanos/genética , Indígenas Sul-Americanos/genética , Ilhas , Havaiano Nativo ou Outro Ilhéu do Pacífico/genética , América Central/etnologia , Colômbia/etnologia , Europa (Continente)/etnologia , Genética Populacional , História Medieval , Humanos , Polimorfismo de Nucleotídeo Único/genética , Polinésia , América do Sul/etnologia , Fatores de Tempo
3.
Hum Genomics ; 18(1): 68, 2024 Jun 18.
Artigo em Inglês | MEDLINE | ID: mdl-38890714

RESUMO

BACKGROUND: In Colombia and worldwide, breast cancer (BC) is the most frequently diagnosed neoplasia and the leading cause of death from cancer among women. Studies predominantly involve hereditary and familial cases, demonstrating a gap in the literature regarding the identification of germline mutations in unselected patients from Latin-America. Identification of pathogenic/likely pathogenic (P/LP) variants is important for shaping national genetic analysis policies, genetic counseling, and early detection strategies. The present study included 400 women with unselected breast cancer (BC), in whom we analyzed ten genes, using Whole Exome Sequencing (WES), know to confer risk for BC, with the aim of determining the genomic profile of previously unreported P/LP variants in the affected population. Additionally, Multiplex Ligation-dependent Probe Amplification (MLPA) was performed to identify Large Genomic Rearrangements (LGRs) in the BRCA1/2 genes. To ascertain the functional impact of a recurrent intronic variant (ATM c.5496 + 2_5496 + 5delTAAG), a minigene assay was conducted. RESULTS: We ascertained the frequency of P/LP germline variants in BRCA2 (2.5%), ATM (1.25%), BRCA1 (0.75%), PALB2 (0.50%), CHEK2 (0.50%), BARD1 (0.25%), and RAD51D (0.25%) genes in the population of study. P/LP variants account for 6% of the total population analyzed. No LGRs were detected in our study. We identified 1.75% of recurrent variants in BRCA2 and ATM genes. One of them corresponds to the ATM c.5496 + 2_5496 + 5delTAAG. Functional validation of this variant demonstrated a splicing alteration probably modifying the Pincer domain and subsequent protein structure. CONCLUSION: This study described for the first time the genomic profile of ten risk genes in Colombian women with unselected BC. Our findings underscore the significance of population-based research, advocating the consideration of molecular testing in all women with cancer.


Assuntos
Proteína BRCA2 , Neoplasias da Mama , Predisposição Genética para Doença , Mutação em Linhagem Germinativa , Humanos , Feminino , Mutação em Linhagem Germinativa/genética , Neoplasias da Mama/genética , Neoplasias da Mama/patologia , Neoplasias da Mama/epidemiologia , Colômbia/epidemiologia , Pessoa de Meia-Idade , Adulto , Proteína BRCA2/genética , Proteína BRCA1/genética , Sequenciamento do Exoma , Idoso , Testes Genéticos/métodos , Proteínas Mutadas de Ataxia Telangiectasia/genética
4.
Proc Natl Acad Sci U S A ; 119(51): e2216843119, 2022 12 20.
Artigo em Inglês | MEDLINE | ID: mdl-36512498

RESUMO

So far in this century, six very large-magnitude earthquakes (MW ≥ 7.8) have ruptured separate portions of the subduction zone plate boundary of western South America along Ecuador, Peru, and Chile. Each source region had last experienced a very large earthquake from 74 to 261 y earlier. This history led to their designation in advance as seismic gaps with potential to host future large earthquakes. Deployments of geodetic and seismic monitoring instruments in several of the seismic gaps enhanced resolution of the subsequent faulting processes, revealing preevent patterns of geodetic slip deficit accumulation and heterogeneous coseismic slip on the megathrust fault. Localized regions of large slip, or asperities, appear to have influenced variability in how each source region ruptured relative to prior events, as repeated ruptures have had similar, but not identical slip distributions. We consider updated perspectives of seismic gaps, asperities, and geodetic locking to assess current very large earthquake hazard along the South American subduction zone, noting regions of particular concern in northern Ecuador and Colombia (1958/1906 rupture zone), southeastern Peru (southeasternmost 1868 rupture zone), north Chile (1877 rupture zone), and north-central Chile (1922 rupture zone) that have large geodetic slip deficit measurements and long intervals (from 64 to 154 y) since prior large events have struck those regions. Expanded geophysical measurements onshore and offshore in these seismic gaps may provide critical information about the strain cycle and fault stress buildup late in the seismic cycle in advance of the future great earthquakes that will eventually strike each region.


Assuntos
Terremotos , Chile , Equador , Peru , Colômbia
5.
PLoS Genet ; 18(7): e1010281, 2022 07.
Artigo em Inglês | MEDLINE | ID: mdl-35839249

RESUMO

Estimating admixture histories is crucial for understanding the genetic diversity we see in present-day populations. Allele frequency or phylogeny-based methods are excellent for inferring the existence of admixture or its proportions. However, to estimate admixture times, spatial information from admixed chromosomes of local ancestry or the decay of admixture linkage disequilibrium (ALD) is used. One popular method, implemented in the programs ALDER and ROLLOFF, uses two-locus ALD to infer the time of a single admixture event, but is only able to estimate the time of the most recent admixture event based on this summary statistic. To address this limitation, we derive analytical expressions for the expected ALD in a three-locus system and provide a new statistical method based on these results that is able to resolve more complicated admixture histories. Using simulations, we evaluate the performance of this method on a range of different admixture histories. As an example, we apply the method to the Colombian and Mexican samples from the 1000 Genomes project. The implementation of our method is available at https://github.com/Genomics-HSE/LaNeta.


Assuntos
Genética Populacional , Grupos Populacionais , Colômbia , Frequência do Gene/genética , Humanos , Desequilíbrio de Ligação , Modelos Genéticos , Grupos Populacionais/genética
6.
Proc Natl Acad Sci U S A ; 119(4)2022 01 25.
Artigo em Inglês | MEDLINE | ID: mdl-35042804

RESUMO

The 2016 Peace Agreement has increased access to Colombia's unique ecosystems, which remain understudied and increasingly under threat. The Colombian government has recently announced its National Bioeconomic Strategy (NBS), founded on the sustainable characterization, management, and conservation of the nation's biodiversity as a means to achieve sustainability and peace. Molecular tools will accelerate such endeavors, but capacity remains limited in Colombia. The Earth Biogenome Project's (EBP) objective is to characterize the genomes of all eukaryotic life on Earth through networks of partner institutions focused on sequencing either specific taxa or eukaryotic communities at regional or national scales. Colombia's immense biodiversity and emerging network of stakeholders have inspired the creation of the national partnership "EBP-Colombia." Here, we discuss how this Colombian-driven collaboration between government, academia, and the private sector is integrating research with sustainable, environmentally focused strategies to develop Colombia's postconflict bioeconomy and conserve biological and cultural diversity. EBP-Colombia will accelerate the uptake of technology and promote partnership and exchange of knowledge among Colombian stakeholders and the EBP's global network of experts; assist with conservation strategies to preserve Colombia's vast biological wealth; and promote innovative approaches among public and private institutions in sectors such as agriculture, tourism, recycling, and medicine. EBP-Colombia can thus support Colombia's NBS with the objective of sustainable and inclusive development to address the many social, environmental, and economic challenges, including conflict, inequality, poverty, and low agricultural productivity, and so, offer an alternative model for economic development that similarly placed countries can adopt.


Assuntos
Conservação dos Recursos Naturais/métodos , Genômica/métodos , Desenvolvimento Sustentável/tendências , Agricultura/métodos , Biodiversidade , Colômbia , Ecologia , Ecossistema , Genoma/genética , Programas Governamentais/tendências , Desenvolvimento Sustentável/economia
7.
J Infect Dis ; 229(Supplement_1): S18-S24, 2024 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-37712125

RESUMO

BACKGROUND: There is no consensus on how to best quantify disease severity in infants with respiratory syncytial virus (RSV) and/or bronchiolitis; this lack of a sufficiently validated score complicates the provision of clinical care and, the evaluation of trials of therapeutics and vaccines. The ReSVinet score appears to be one of the most promising; however, it is too time consuming to be incorporated into routine clinical care. We aimed to develop and externally validate simplified versions of this score. METHODS: Data from a multinational (the Netherlands, Spain, and United Kingdom) multicenter case-control study of infants with RSV were used to develop simplified versions of the ReSVinet score by conducting a grid search to determine the best combination of equally weighted parameters to maximize for the discriminative ability (measured by area under the receiver operating characteristic curve [AUROC]) across a range of outcomes (hospitalization, intensive care unit admission, ventilation requirement). Subsequently discriminative validity of the score for a range of secondary care outcomes was externally validated by secondary analysis of datasets from Rwanda and Colombia. RESULTS: Three candidate simplified scores were identified using the development dataset; they were excellent (AUROC >0.9) at discriminating for a range of outcomes, and their performance was not significantly different from the original ReSVinet score despite having fewer parameters. In the external validation datasets, the simplified scores were moderate to excellent (AUROC, 0.7-1) across a range of outcomes. In all outcomes, except in a single dataset for predicting admission to the high-dependency unit, they performed at least as well as the original ReSVinet score. CONCLUSIONS: The candidate simplified scores developed require further external validation in larger datasets, ideally from resource-limited settings before any recommendation regarding their use.


Assuntos
Vírus Sincicial Respiratório Humano , Atenção Secundária à Saúde , Lactente , Humanos , Estudos de Casos e Controles , Área Sob a Curva , Colômbia
8.
Emerg Infect Dis ; 30(1): 180-182, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38063085

RESUMO

We estimated the incubation period for mpox during an outbreak in Pereira, Colombia, using data from 11 confirmed cases. Mean incubation period was 7.1 (95% CI 4.9-9.9) days, consistent with previous outbreaks. Accurately estimating the incubation period provides insights into transmission dynamics, informing public health interventions and surveillance strategies.


Assuntos
Mpox , Masculino , Humanos , Colômbia/epidemiologia , Período de Incubação de Doenças Infecciosas , Surtos de Doenças , Saúde Pública , Homossexualidade Masculina
9.
Emerg Infect Dis ; 30(1): 189-192, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-38086397

RESUMO

Using Oxford Nanopore technologies and phylogenetic analyses, we sequenced and identified the cosmopolitan genotype of dengue virus serotype 2 isolated from 2 patients in the city of Villavicencio, Meta department, Colombia. This identification suggests the emergence of this genotype in the country, which warrants further surveillance to identify its epidemic potential.


Assuntos
Vírus da Dengue , Dengue , Humanos , Dengue/epidemiologia , Sorogrupo , Filogenia , Colômbia/epidemiologia , Genótipo
10.
Emerg Infect Dis ; 30(7): 1398-1401, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38916574

RESUMO

We describe a recent case of lymphatic filariasis in Colombia caused by Wuchereria bancrofti nematodes. Our study combines clinical-epidemiologic findings with phylogenetic data. Resurgence of lymphatic filariasis may be linked to increasing urbanization trends and migration from previously endemic regions. Fieldwork can be a beneficial tool for screening and containing transmission.


Assuntos
Filariose Linfática , Wuchereria bancrofti , Filariose Linfática/epidemiologia , Colômbia/epidemiologia , Wuchereria bancrofti/genética , Humanos , Animais , Filogenia , Masculino , Adulto , Feminino , Pessoa de Meia-Idade
11.
Emerg Infect Dis ; 30(5): 890-899, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38666579

RESUMO

High incidences of congenital syphilis have been reported in areas along the Pacific coast of Colombia. In this retrospective study, conducted during 2018-2022 at a public hospital in Buenaventura, Colombia, we analyzed data from 3,378 pregnant women. The opportunity to prevent congenital syphilis was missed in 53.1% of mothers because of the lack of syphilis screening. Characteristics of higher maternal social vulnerability and late access to prenatal care decreased the probability of having >1 syphilis screening test, thereby increasing the probability of having newborns with congenital syphilis. In addition, the opportunity to prevent congenital syphilis was missed in 41.5% of patients with syphilis because of the lack of treatment, which also increased the probability of having newborns with congenital syphilis. We demonstrate the urgent need to improve screening and treatment capabilities for maternal syphilis, particularly among pregnant women who are more socially vulnerable.


Assuntos
Complicações Infecciosas na Gravidez , Sífilis Congênita , Humanos , Colômbia/epidemiologia , Feminino , Sífilis Congênita/prevenção & controle , Sífilis Congênita/epidemiologia , Gravidez , Estudos Retrospectivos , Adulto , Complicações Infecciosas na Gravidez/prevenção & controle , Complicações Infecciosas na Gravidez/epidemiologia , Recém-Nascido , Adulto Jovem , Transmissão Vertical de Doenças Infecciosas/prevenção & controle , Cuidado Pré-Natal , Programas de Rastreamento , Sífilis/epidemiologia , Sífilis/prevenção & controle , Incidência , Adolescente , História do Século XXI
12.
J Clin Immunol ; 44(7): 163, 2024 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-39008214

RESUMO

BACKGROUND: Cryptococcosis is a life-threatening disease caused by Cryptococcus neoformans or C. gattii. Neutralizing autoantibodies (auto-Abs) against granulocyte-macrophage colony-stimulating factor (GM-CSF) in otherwise healthy adults with cryptococcal meningitis have been described since 2013. We searched for neutralizing auto-Abs in sera collected from Colombian patients with non-HIV-associated cryptococcosis in a retrospective national cohort from 1997 to 2016. METHODS: We reviewed clinical and laboratory records and assessed the presence of neutralizing auto-Abs against GM-CSF in 30 HIV negative adults with cryptococcosis (13 caused by C. gattii and 17 caused by C. neoformans). RESULTS: We detected neutralizing auto-Abs against GM-CSF in the sera of 10 out of 13 (77%) patients infected with C. gattii and one out of 17 (6%) patients infected with C. neoformans. CONCLUSIONS: We report eleven Colombian patients diagnosed with cryptococcosis who had auto-Abs that neutralize GM-CSF. Among these patients, ten were infected with C. gattii and only one with C. neoformans.


Assuntos
Anticorpos Neutralizantes , Autoanticorpos , Criptococose , Cryptococcus gattii , Cryptococcus neoformans , Fator Estimulador de Colônias de Granulócitos e Macrófagos , Humanos , Fator Estimulador de Colônias de Granulócitos e Macrófagos/imunologia , Autoanticorpos/sangue , Autoanticorpos/imunologia , Masculino , Colômbia , Feminino , Adulto , Cryptococcus gattii/imunologia , Pessoa de Meia-Idade , Cryptococcus neoformans/imunologia , Criptococose/imunologia , Criptococose/diagnóstico , Anticorpos Neutralizantes/sangue , Anticorpos Neutralizantes/imunologia , Estudos Retrospectivos , Soronegatividade para HIV/imunologia , Adulto Jovem , Idoso
13.
BMC Plant Biol ; 24(1): 570, 2024 Jun 18.
Artigo em Inglês | MEDLINE | ID: mdl-38886648

RESUMO

BACKGROUND: Sucrose accumulation in sugarcane is affected by several environmental and genetic factors, with plant moisture being of critical importance for its role in the synthesis and transport of sugars within the cane stalks, affecting the sucrose concentration. In general, rainfall and high soil humidity during the ripening stage promote plant growth, increasing the fresh weight and decreasing the sucrose yield in the humid region of Colombia. Therefore, this study aimed to identify markers associated with sucrose accumulation or production in the humid environment of Colombia through a genome-wide association study (GWAS). RESULTS: Sucrose concentration measurements were taken in 220 genotypes from the Cenicaña's diverse panel at 10 (early maturity) and 13 (normal maturity) months after planting. For early maturity data was collected during plant cane and first ratoon, while at normal maturity it was during plant cane, first, and second ratoon. A total of 137,890 SNPs were selected after sequencing the 220 genotypes through GBS, RADSeq, and whole-genome sequencing. After GWAS analysis, a total of 77 markers were significantly associated with sucrose concentration at both ages, but only 39 were close to candidate genes previously reported for sucrose accumulation and/or production. Among the candidate genes, 18 were highlighted because they were involved in sucrose hydrolysis (SUS6, CIN3, CINV1, CINV2), sugar transport (i.e., MST1, MST2, PLT5, SUT4, ERD6 like), phosphorylation processes (TPS genes), glycolysis (PFP-ALPHA, HXK3, PHI1), and transcription factors (ERF12, ERF112). Similarly, 64 genes were associated with glycosyltransferases, glycosidases, and hormones. CONCLUSIONS: These results provide new insights into the molecular mechanisms involved in sucrose accumulation in sugarcane and contribute with important genomic resources for future research in the humid environments of Colombia. Similarly, the markers identified will be validated for their potential application within Cenicaña's breeding program to assist the development of breeding populations.


Assuntos
Estudo de Associação Genômica Ampla , Umidade , Saccharum , Sacarose , Saccharum/genética , Saccharum/metabolismo , Colômbia , Sacarose/metabolismo , Polimorfismo de Nucleotídeo Único , Genótipo
14.
Glob Chang Biol ; 30(3): e17211, 2024 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-38439736

RESUMO

Most protected area (PA) planning aims to improve biota representation within the PA system, but this does not necessarily achieve the best outcomes for biota retention across regions when we also consider habitat loss in areas outside the PA system. Here, we assess the implications that different PA expansion strategies can have on the retention of species habitat across an entire region. Using retention of forest habitat for Colombia's 550 forest-dependent bird species as our outcome variable, we found that when a minimum of 30% of each species' habitat was included in the PA system, a pattern of PA expansion targeting areas at highest deforestation risk (risk-prevention) led to the retention, on average, of 7.2% more forest habitat per species by 2050 than did a pattern that targeted areas at lowest risk (risk-avoidance). The risk-prevention approach cost more per km2 of land conserved, but it was more cost-effective in retaining habitat in the landscape (50%-69% lower cost per km2 of avoided deforestation). To have the same effectiveness preventing habitat loss in Colombia, the risk-avoidance approach would require more than twice as much protected area, costing three times more in the process. Protected area expansion should focus on the contributions of PAs to outcomes not only within PA systems themselves, but across entire regions.


La mayor parte de la planificación de áreas protegidas (AP) tiene como objetivo mejorar la representación de la biota dentro del sistema de AP, pero esto no necesariamente logra los mejores resultados para la retención de biota a nivel de paisaje cuando también consideramos la pérdida de hábitat en áreas fuera del sistema de AP. Aquí evaluamos las implicaciones que diferentes estrategias de expansión de AP pueden tener en la retención del hábitat de las especies en toda una región. Utilizando la retención de hábitat forestal para las 550 especies de aves dependientes de bosque de Colombia como nuestra variable de resultado, encontramos que cuando un mínimo del 30% del hábitat de cada especie es incluido en el sistema de AP, se observó que un patrón de expansión de AP dirigido a áreas con mayor riesgo de deforestación (prevención de riesgos) condujo a la retención, en promedio, de un 7.2% más de hábitat por especie para 2050 que un patrón enfocado en áreas con menor riesgo (evasión de riesgos). El enfoque de prevención de riesgos costó más por km2 de tierra conservada, pero fue más rentable para retener el hábitat en el paisaje (entre un 50% y un 69% menos costo por km2 de deforestación evitada). Para tener la misma eficacia en la prevención de la pérdida de hábitat en Colombia, el enfoque de evasión de riesgos requeriría más del doble de área protegida, lo que costaría tres veces más en el proceso. La expansión de las AP debería centrarse en las contribuciones de las AP a los resultados no sólo dentro de los propios sistemas de AP, sino en regiones enteras.


Assuntos
Biota , Florestas , Colômbia
15.
Lupus ; 33(8): 797-803, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38709545

RESUMO

Cytomegalovirus (CMV) infection and disease is a condition usually described in immunocompromised patients, but among them, those with connective tissue diseases are poorly represented. Here we present the clinical, laboratory characteristics, management and outcomes of systemic lupus erythematosus (SLE) patients who presented with a CMV infection/disease to a high complexity hospital in southwestern Colombia between 2011 and 2020. 16 SLE patients were found to have a CMV infection. SLE was predominantly characterized by renal involvement (10 patients; 62.50%), and 14 patients (87.5%) were receiving steroids previous to the CMV infection. The entire sample required hospital admission, mainly related to acute kidney injury, and nine patients were admitted to the intensive care unit (ICU). Gastrointestinal organ damage was the most common CMV disease manifestation. All patients received ganciclovir, five of them (31.25%) suffered from septic shock, and seven (43.75%) died. Age ≥38 years and the presence of septic shock at admission were correlated to the mortality outcome. To our knowledge, this is the first publication evaluating SLE patients with CMV infection/disease in a Colombian population.


Assuntos
Infecções por Citomegalovirus , Lúpus Eritematoso Sistêmico , Humanos , Lúpus Eritematoso Sistêmico/complicações , Lúpus Eritematoso Sistêmico/tratamento farmacológico , Infecções por Citomegalovirus/complicações , Infecções por Citomegalovirus/epidemiologia , Colômbia/epidemiologia , Feminino , Adulto , Masculino , Pessoa de Meia-Idade , Antivirais/uso terapêutico , Adulto Jovem , Ganciclovir/uso terapêutico , Hospedeiro Imunocomprometido , Choque Séptico/etiologia , Estudos Retrospectivos , Injúria Renal Aguda/etiologia , Injúria Renal Aguda/epidemiologia , Hospitalização/estatística & dados numéricos , Unidades de Terapia Intensiva/estatística & dados numéricos
16.
Cancer Control ; 31: 10732748241244928, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38557156

RESUMO

OBJECTIVE: To obtain breast cancer survival estimates in Manizales, Colombia, considering socioeconomic level, health insurance regime and residential area, while adjusting for age, histology and stage at diagnosis. METHODS: Analytical cohort study based on breast cancer incident cases recorded by the Population-based Manizales Cancer Registry between 2008-2015. Patients were followed-up for 60 months. Cause-specific survival was calculated using the Kaplan-Meier method for variables of interest, with the Wilcoxon-Breslow-Gehan test for differences. Cox multivariate regression models were fitted. RESULTS: 856 breast cancer cases were included. The 5-year cause-specific survival for the entire cohort was 78.2%. It was higher in women with special/exception health insurance, high socioeconomic level, <50 years old, ductal carcinoma, and stages I and II. Residential area did not impact survival. In Cox models, the subsidized health insurance regime (HR: 4.87 vs contributory) and low socioeconomic level (HR: 2.45 vs high) were predictors of the hazard of death in women with breast cancer, adjusted for age, histology, stage and interactions age-stage and insurance-stage. A positive interaction (synergistic effect modification) between health insurance regime and stage regarding to survival was observed. CONCLUSION: Socioeconomic factors significantly contribute to the inequities in breast cancer survival, independent of the stage at diagnosis. This suggests the need for comprehensive interventions to remove barriers to accessing the health system. This research provides evidence of survival gaps mediated by certain social determinants of health and generates data on the overall performance of the Colombian health system.


Assuntos
Neoplasias da Mama , Humanos , Feminino , Pessoa de Meia-Idade , Neoplasias da Mama/epidemiologia , Neoplasias da Mama/terapia , Neoplasias da Mama/diagnóstico , Colômbia/epidemiologia , Estudos de Coortes , Mama , Desigualdades de Saúde
17.
Artigo em Inglês | MEDLINE | ID: mdl-38359077

RESUMO

Three yeast isolate candidates for a novel species were obtained from rotting wood samples collected in Brazil and Colombia. The Brazilian isolate differs from the Colombian isolates by one nucleotide substitution in each of the D1/D2 and small subunit (SSU) sequences. The internal transcribed spacer (ITS) and translation elongation factor 1-α gene sequences of the three isolates were identical. A phylogenetic analysis showed that this novel species belongs to the genus Ogataea. This novel species is phylogenetically related to Candida nanaspora and Candida nitratophila. The novel species differs from C. nanaspora by seven nucleotides and two indels, and by 17 nucleotides and four indels from C. nitratophila in the D1/D2 sequences. The ITS sequences of these three species differ by more than 30 nucleotides. Analyses of the sequences of the SSU and translation elongation factor 1-α gene also showed that these isolates represent a novel species of the genus Ogataea. Different from most Ogataea species, these isolates did not assimilate methanol as the sole carbon source. The name Ogataea nonmethanolica sp. nov. is proposed to accommodate these isolates. The holotype of Ogataea nonmethanolica is CBS 13485T. The MycoBank number is MB 851195.


Assuntos
Fator 1 de Elongação de Peptídeos , Saccharomycetales , Fator 1 de Elongação de Peptídeos/genética , Brasil , Filogenia , Colômbia , DNA Espaçador Ribossômico/genética , Madeira , RNA Ribossômico 16S/genética , DNA Fúngico/genética , Técnicas de Tipagem Micológica , Análise de Sequência de DNA , DNA Bacteriano/genética , Técnicas de Tipagem Bacteriana , Composição de Bases , Ácidos Graxos/química , Saccharomycetales/genética , Nucleotídeos
18.
Malar J ; 23(1): 116, 2024 Apr 25.
Artigo em Inglês | MEDLINE | ID: mdl-38664687

RESUMO

BACKGROUND: Pregnancy Associated Malaria (PAM) include malaria in pregnancy (MiP), placental malaria (PM), and congenital malaria (CM). The evidence available in Colombia on PAM focuses on one of the presentations (MiP, PM or CM), and no study longitudinally analyses the infection from the pregnant woman, passing through the placenta, until culminating in the newborn. This study determined the frequency of MiP, PM, and CM caused by Plasmodium vivax, Plasmodium falciparum, or mixed infections, according to Thick Blood Smear (TBS) and quantitative Polymerase Chain Reaction (qPCR). Identifying associated factors of PAM and clinical-epidemiological outcomes in northwestern Colombia. METHODS: Prospective study of 431 pregnant women, their placenta, and newborns registered in the data bank of the research Group "Salud y Comunidad César Uribe Piedrahíta" which collected information between 2014 and 2020 in endemic municipalities of the departments of Córdoba and Antioquia. The frequency of infection was determined with 95% confidence intervals. Comparisons were made with the Chi-square test, Student t-test, prevalence ratios, and control for confounding variables by log-binomial regression. RESULTS: The frequency of MiP was 22.3% (4.6% using TBS), PM 24.8% (1.4% using TBS), and CM 11.8% (0% using TBS). Using TBS predominated P. vivax. Using qPCR the proportions of P. vivax and P. falciparum were similar for MiP and PM, but P. falciparum predominated in CM. The frequency was higher in nulliparous, and women with previous malaria. The main clinical effects of PAM were anaemia, low birth weight, and abnormal APGAR score. CONCLUSIONS: The magnitude of infections was not detected with TBS because most cases were submicroscopic (TBS-negative, qPCR-positive). This confirmed the importance of improving the molecular detection of cases. PAM continue being underestimated in the country due to that in Colombia the control programme is based on TBS, despite its outcomes on maternal, and congenital health.


Assuntos
Malária Falciparum , Malária Vivax , Complicações Parasitárias na Gravidez , Humanos , Feminino , Gravidez , Colômbia/epidemiologia , Estudos Prospectivos , Adulto , Malária Falciparum/epidemiologia , Malária Falciparum/parasitologia , Malária Vivax/epidemiologia , Malária Vivax/parasitologia , Adulto Jovem , Recém-Nascido , Complicações Parasitárias na Gravidez/epidemiologia , Complicações Parasitárias na Gravidez/parasitologia , Adolescente , Plasmodium falciparum/isolamento & purificação , Prevalência , Plasmodium vivax/isolamento & purificação , Plasmodium vivax/fisiologia , Placenta/parasitologia , Doenças Placentárias/epidemiologia , Doenças Placentárias/parasitologia
19.
Int Microbiol ; 27(2): 377-391, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37458953

RESUMO

The influence of elevation on natural terrestrial ecosystems determines the arrangements of microbial communities in soils to be associated with biotic and abiotic factors. To evaluate changes of fungi and bacteria at the community level along an elevational gradient (between 1000 and 3800 m.a.s.l.), physicochemical measurements of soils, taxonomic identifications of plants, and metabarcoding sequences of the 16S rRNA gene for bacteria and the ITS1 region for fungi were obtained. The bacterial taxonomic composition showed that Acidobacteriota increased in abundance with elevation, while Actinobacteriota and Verrucomicrobiota decreased. Furthermore, Firmicutes and Proteobacteria maintained maximum levels of abundance at intermediate elevations (1200 and 2400 m.a.s.l.). In fungi, Ascomycota was more abundant at higher elevations, Basidiomycota tended to dominate at lower elevations, and Mortierellomycota had a greater presence at intermediate sites. These results correlated with the edaphic parameters of decreasing pH and increasing organic carbon and available nitrogen with elevation. In addition, the Shannon index found a greater diversity in bacteria than fungi, but both showed a unimodal pattern with maximum values in the Andean Forest at 2400 m.a.s.l. Through the microbial characterization of the ecosystems, the elevational gradient, soil properties, and vegetation were found to exert significant effects on microbial communities and alpha diversity indices. We conclude that the most abundant soil microorganisms at the sampling points differed in abundance and diversity according to the variations in factors influencing ecological communities.


Assuntos
Ecossistema , Solo , Solo/química , RNA Ribossômico 16S/genética , Colômbia , Bactérias/genética , Florestas , Fungos/genética , Microbiologia do Solo
20.
Int J Behav Nutr Phys Act ; 21(1): 54, 2024 May 08.
Artigo em Inglês | MEDLINE | ID: mdl-38720323

RESUMO

BACKGROUND: Transportation policies can impact health outcomes while simultaneously promoting social equity and environmental sustainability. We developed an agent-based model (ABM) to simulate the impacts of fare subsidies and congestion taxes on commuter decision-making and travel patterns. We report effects on mode share, travel time and transport-related physical activity (PA), including the variability of effects by socioeconomic strata (SES), and the trade-offs that may need to be considered in the implementation of these policies in a context with high levels of necessity-based physical activity. METHODS: The ABM design was informed by local stakeholder engagement. The demographic and spatial characteristics of the in-silico city, and its residents, were informed by local surveys and empirical studies. We used ridership and travel time data from the 2019 Bogotá Household Travel Survey to calibrate and validate the model by SES. We then explored the impacts of fare subsidy and congestion tax policy scenarios. RESULTS: Our model reproduced commuting patterns observed in Bogotá, including substantial necessity-based walking for transportation. At the city-level, congestion taxes fractionally reduced car use, including among mid-to-high SES groups but not among low SES commuters. Neither travel times nor physical activity levels were impacted at the city level or by SES. Comparatively, fare subsidies promoted city-level public transportation (PT) ridership, particularly under a 'free-fare' scenario, largely through reductions in walking trips. 'Free fare' policies also led to a large reduction in very long walking times and an overall reduction in the commuting-based attainment of physical activity guidelines. Differential effects were observed by SES, with free fares promoting PT ridership primarily among low-and-middle SES groups. These shifts to PT reduced median walking times among all SES groups, particularly low-SES groups. Moreover, the proportion of low-to-mid SES commuters meeting weekly physical activity recommendations decreased under the 'freefare' policy, with no change observed among high-SES groups. CONCLUSIONS: Transport policies can differentially impact SES-level disparities in necessity-based walking and travel times. Understanding these impacts is critical in shaping transportation policies that balance the dual aims of reducing SES-level disparities in travel time (and time poverty) and the promotion of choice-based physical activity.


Assuntos
Exercício Físico , Meios de Transporte , Caminhada , Humanos , Colômbia , Meios de Transporte/métodos , Caminhada/estatística & dados numéricos , Impostos , Fatores Socioeconômicos , Cidades , Ciclismo/estatística & dados numéricos , Feminino , Masculino , Adulto
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