RESUMEN
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.).
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Enfermedad de Alzheimer , Apolipoproteína E3 , Presenilina-1 , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Edad de Inicio , Enfermedad de Alzheimer/diagnóstico , Enfermedad de Alzheimer/diagnóstico por imagen , Enfermedad de Alzheimer/genética , Enfermedad de Alzheimer/patología , Apolipoproteína E3/genética , Encéfalo/patología , Encéfalo/diagnóstico por imagen , Colombia , Familia , Genes Dominantes , Heterocigoto , Tomografía de Emisión de Positrones , Presenilina-1/genética , Estudios RetrospectivosRESUMEN
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.
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Flujo Génico/genética , Genoma Humano/genética , Migración Humana/historia , Indígenas Centroamericanos/genética , Indígenas Sudamericanos/genética , Islas , Nativos de Hawái y Otras Islas del Pacífico/genética , América Central/etnología , Colombia/etnología , Europa (Continente)/etnología , Genética de Población , Historia Medieval , Humanos , Polimorfismo de Nucleótido Simple/genética , Polinesia , América del Sur/etnología , Factores de TiempoRESUMEN
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.
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Proteína BRCA2 , Neoplasias de la Mama , Predisposición Genética a la Enfermedad , Mutación de Línea Germinal , Humanos , Femenino , Mutación de Línea Germinal/genética , Neoplasias de la Mama/genética , Neoplasias de la Mama/patología , Neoplasias de la Mama/epidemiología , Colombia/epidemiología , Persona de Mediana Edad , Adulto , Proteína BRCA2/genética , Proteína BRCA1/genética , Secuenciación del Exoma , Anciano , Pruebas Genéticas/métodos , Proteínas de la Ataxia Telangiectasia Mutada/genéticaRESUMEN
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.
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Terremotos , Chile , Ecuador , Perú , ColombiaRESUMEN
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.
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Genética de Población , Grupos de Población , Colombia , Frecuencia de los Genes/genética , Humanos , Desequilibrio de Ligamiento , Modelos Genéticos , Grupos de Población/genéticaRESUMEN
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.
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Conservación de los Recursos Naturales/métodos , Genómica/métodos , Desarrollo Sostenible/tendencias , Agricultura/métodos , Biodiversidad , Colombia , Ecología , Ecosistema , Genoma/genética , Programas de Gobierno/tendencias , Desarrollo Sostenible/economíaRESUMEN
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.
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Virus Sincitial Respiratorio Humano , Atención Secundaria de Salud , Lactante , Humanos , Estudios de Casos y Controles , Área Bajo la Curva , ColombiaRESUMEN
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.
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Mpox , Masculino , Humanos , Colombia/epidemiología , Periodo de Incubación de Enfermedades Infecciosas , Brotes de Enfermedades , Salud Pública , Homosexualidad MasculinaRESUMEN
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.
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Virus del Dengue , Dengue , Humanos , Dengue/epidemiología , Serogrupo , Filogenia , Colombia/epidemiología , GenotipoRESUMEN
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.
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Filariasis Linfática , Wuchereria bancrofti , Filariasis Linfática/epidemiología , Colombia/epidemiología , Wuchereria bancrofti/genética , Humanos , Animales , Filogenia , Masculino , Adulto , Femenino , Persona de Mediana EdadRESUMEN
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.
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Complicaciones Infecciosas del Embarazo , Sífilis Congénita , Humanos , Colombia/epidemiología , Femenino , Sífilis Congénita/prevención & control , Sífilis Congénita/epidemiología , Embarazo , Estudios Retrospectivos , Adulto , Complicaciones Infecciosas del Embarazo/prevención & control , Complicaciones Infecciosas del Embarazo/epidemiología , Recién Nacido , Adulto Joven , Transmisión Vertical de Enfermedad Infecciosa/prevención & control , Atención Prenatal , Tamizaje Masivo , Sífilis/epidemiología , Sífilis/prevención & control , Incidencia , Adolescente , Historia del Siglo XXIRESUMEN
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.
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Anticuerpos Neutralizantes , Autoanticuerpos , Criptococosis , Cryptococcus gattii , Cryptococcus neoformans , Factor Estimulante de Colonias de Granulocitos y Macrófagos , Humanos , Factor Estimulante de Colonias de Granulocitos y Macrófagos/inmunología , Autoanticuerpos/sangre , Autoanticuerpos/inmunología , Masculino , Colombia , Femenino , Adulto , Cryptococcus gattii/inmunología , Persona de Mediana Edad , Cryptococcus neoformans/inmunología , Criptococosis/inmunología , Criptococosis/diagnóstico , Anticuerpos Neutralizantes/sangre , Anticuerpos Neutralizantes/inmunología , Estudios Retrospectivos , Seronegatividad para VIH/inmunología , Adulto Joven , AncianoRESUMEN
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.
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Estudio de Asociación del Genoma Completo , Humedad , Saccharum , Sacarosa , Saccharum/genética , Saccharum/metabolismo , Colombia , Sacarosa/metabolismo , Polimorfismo de Nucleótido Simple , GenotipoRESUMEN
Contemporary research on the genomics of Attention Deficit Hyperactivity Disorder (ADHD) often underrepresents admixed populations of diverse genomic ancestries, such as Latin Americans. This study explores the relationship between admixture and genetic associations for ADHD in Colombian and Mexican cohorts. Some 546 participants in two groups, ADHD and Control, were genotyped with Infinium PsychArray®. Global ancestry levels were estimated using overall admixture proportions and principal component analysis, while local ancestry was determined using a method to estimate ancestral components along the genome. Genome-wide association analysis (GWAS) was conducted to identify significant associations. Differences between Colombia and Mexico were evaluated using appropriate statistical tests. 354 Single-nucleotide polymorphisms (SNPs) and Single-nucleotide variants (SNVs) related to some genes and intergenic regions exhibited suggestive significance (p-value < 5*10e-5) in the GWAS. None of the variants revealed genome-wide significance (p-value < 5*10e-8). The study identified a significant relationship between risk SNPs and the European component of admixture, notably observed in the LOC105379109 gene. Despite differences in risk association loci, such as FOXP2, our findings suggest a possible homogeneity in genetic variation's impact on ADHD between Colombian and Mexican populations. Current reference datasets for ADHD predominantly consist of samples with high European ancestry, underscoring the need for further research to enhance the representation of reference populations and improve the identification of ADHD risk traits in Latin Americans.
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Trastorno por Déficit de Atención con Hiperactividad , Predisposición Genética a la Enfermedad , Adolescente , Niño , Femenino , Humanos , Masculino , Trastorno por Déficit de Atención con Hiperactividad/genética , Trastorno por Déficit de Atención con Hiperactividad/epidemiología , Estudios de Cohortes , Colombia/epidemiología , Estudio de Asociación del Genoma Completo , Genotipo , México/epidemiología , Polimorfismo de Nucleótido SimpleRESUMEN
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.
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Biota , Bosques , ColombiaRESUMEN
BACKGROUND: Mucosa melanoma is a rare condition with aggressive behavior and a less favorable prognosis compared to cutaneous melanoma. The objective of this study was to estimate the overall survival and clinical outcomes of patients diagnosed with mucosal melanoma in a Colombian hospital. METHODS: A retrospective cohort study was conducted at Fundación Valle del Lili, a single center located in Cali, Colombia. Patients aged ≥ 18 years, both sexes, diagnosed with mucosal melanoma by histopathology study were included between 2010-2019. Patients who received extra-institutional treatment or whose vital status was unknown during follow-up were excluded. Demographic, clinical and laboratory data were obtained from medical records and laboratory and pathology databases. A descriptive analysis was performed. Survival analysis was conducted using the Kaplan-Meier method. RESULTS: A total of 23 patients were included. Median age was 63 years old (IQR: 57-68) and 52.2% were woman. Clinical stage was 34.8% early, 26.1% locally advanced and 39.1% metastatic. The main primary locations were nasopharynx (30.4%), genitals (26.1%), rectum (21.7%), oral cavity (13%) and paranasal sinuses (8.7%). The majority received surgery (30.4%) and immunotherapy (26.1%) as first line treatment. Overall survival at one year was 80.8%, at three years 44.3%, and at five years 36.9%. CONCLUSION: Mucosal melanoma is a rare, aggressive disease with adverse oncological outcomes due to late diagnosis and limited treatment options. This study provides real-world data in a single-center of Colombia.
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Melanoma , Membrana Mucosa , Humanos , Melanoma/mortalidad , Melanoma/patología , Melanoma/terapia , Melanoma/epidemiología , Femenino , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Colombia/epidemiología , Anciano , Membrana Mucosa/patología , Pronóstico , Tasa de Supervivencia , Estadificación de Neoplasias , Estimación de Kaplan-MeierRESUMEN
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.
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Infecciones por Citomegalovirus , Lupus Eritematoso Sistémico , Humanos , Lupus Eritematoso Sistémico/complicaciones , Lupus Eritematoso Sistémico/tratamiento farmacológico , Infecciones por Citomegalovirus/complicaciones , Infecciones por Citomegalovirus/epidemiología , Colombia/epidemiología , Femenino , Adulto , Masculino , Persona de Mediana Edad , Antivirales/uso terapéutico , Adulto Joven , Ganciclovir/uso terapéutico , Huésped Inmunocomprometido , Choque Séptico/etiología , Estudios Retrospectivos , Lesión Renal Aguda/etiología , Lesión Renal Aguda/epidemiología , Hospitalización/estadística & datos numéricos , Unidades de Cuidados Intensivos/estadística & datos numéricosRESUMEN
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.
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Neoplasias de la Mama , Humanos , Femenino , Persona de Mediana Edad , Neoplasias de la Mama/epidemiología , Neoplasias de la Mama/terapia , Neoplasias de la Mama/diagnóstico , Colombia/epidemiología , Estudios de Cohortes , Mama , Inequidades en SaludRESUMEN
BACKGROUND: In the scientific literature on Malaria in Pregnancy (MiP), no studies have been conducted on lifestyles based on critical theory. The objective of this study was to analyse the lifestyles or singular processes of social determination of health in MiP in northwestern Colombia. METHODS: Mixed QUAN-QUAL convergent triangulation study. In the quantitative component, a psychometric evaluation and a cross-sectional design were conducted in 400 pregnant women to whom the Pender-Walker lifestyle scale and a survey on MiP prevention were applied. In the qualitative study, a critical ethnography was conducted with 46 pregnant women in whom their narratives and practices regarding lifestyles at home and healthcare were described. RESULTS: The frequency of MiP was 9%, and a higher occurrence of the disease was identified in those who did not control stagnant water (29%), did not use insecticide-treated net (16%) and went to the hospital (14%) or the microscopist (20%) when they had fever. This coincides with the presence of unhealthy lifestyles, little knowledge about malaria, and a low perception of the risk of getting sick, as well as meanings and experiences about MiP, maternity, and pregnancy that show a high clinical, cultural, and socioeconomic burden for the women studied. CONCLUSION: This epidemiological profile and the approach to lifestyles based on the postulates of critical theory in health evidence that pregnant women exposed to malaria suffer serious social, cultural and health injustices that are not possible to impact with the current health model of malaria control in Colombia guided by aetiopathogenic, biomedical, positivist and utilitarian theories.
Asunto(s)
Estilo de Vida , Malaria , Humanos , Femenino , Colombia/epidemiología , Embarazo , Adulto , Malaria/epidemiología , Malaria/prevención & control , Estudios Transversales , Adulto Joven , Adolescente , Complicaciones Parasitarias del Embarazo/epidemiología , Complicaciones Parasitarias del Embarazo/prevención & controlRESUMEN
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.