80 results on '"Luis A. Carvajal"'
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2. Essays on the Economics of Education in Middle-Income Countries
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Luis Carlos Carvajal Osorio
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In this dissertation, I study some of the factors that determine schooling decisions in middle-income economies in Latin America. In the first chapter, I examine the impacts of a large-scale program in Colombia that installs water treatment facilities in rural schools. To identify causal effects on student and community outcomes, I leverage variation in the timing of facility deliveries to schools. I find that after a school receives a facility, upper secondary enrollment increases by an average of 14% but enrollment at the primary level decreases on average by 5%. This mixed pattern of the enrollment effects is consistent with heterogeneous treatment effects by school institutional capacity, as the negative enrollment effects are concentrated among schools with low institutional capacity to assume new responsibilities. I do not find effects on achievement or on health outcomes. The second chapter explores the effects of shocks to local economic conditions on school choice at the upper secondary level in the context of Mexico City during the Great Recession. Using administrative records from the city's centralized school assignment mechanism and exploiting geographic and temporal variation in the severity of household income shocks across neighborhoods, I find that school choices are not very responsive to local income shocks. Students are more likely to adjust their school choices along the margin of cost of attendance and the type of adjustment they make varies by socioeconomic status, with wealthier students making countercyclical investments in education while poorer students becoming more likely to choose schools with lower monetary costs. The third chapter investigates the within-household spillover effects of a nationwide policy in Colombia that provided financial aid to high-achieving, low-income students. I use variation in the eligibility for financial aid in a regression discontinuity design. I find that having a sibling eligible for financial aid did not affect achievement at the high school level and preliminary evidence suggests that it did not impact college attendance or achievement, even though the policy had large effects along those margins for its direct beneficiaries. [The dissertation citations contained here are published with the permission of ProQuest LLC. Further reproduction is prohibited without permission. Copies of dissertations may be obtained by Telephone (800) 1-800-521-0600. Web page: http://www.proquest.com/en-US/products/dissertations/individuals.shtml.]
- Published
- 2024
3. Recombination events drives the emergence of Colombian Helicobacter pylori subpopulations with self-identity ancestry
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Alix A. Guevara-Tique, Roberto C. Torres, Maria M. Bravo, Luis G. Carvajal Carmona, María M. Echeverry de Polanco, Mabel E. Bohórquez, and Javier Torres
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Helicobacter pylori ,Colombia ,population structure ,ancestry ,evolution ,recombination ,Infectious and parasitic diseases ,RC109-216 - Abstract
Helicobacter pylori have coevolved with mankind since its origins, adapting to different human groups. In America, H. pylori has evolved into several subpopulations. We analysed the genome of 154 Colombian strains along with 1,091 strains from worldwide populations to discern the ancestry and adaption to Colombian people. Population structure and ancestry was inferred with FineStructure and ChromoPainter. Phylogenetic relationship and the relative effect of recombination were analysing the core SNPs. Also, a Fst index was calculated to identify the gene variants with the strongest fixation in the Colombian subpopulations compared to their parent population hspSWEurope. FineStructure allowed the identification of two Colombian subpopulations, the previously described hspSWEuropeColombia and a novel subpopulation named hspColombia, that included three subgroups following their geographic origin. Colombian subpopulations represent an admixture of European, African and Indigenous ancestry; although some genomes showed a high proportion of self identity, suggesting an advanced adaption to these mestizo Colombian groups. We found that recombination is more important that punctual mutations in H. pylori genome diversity, 13.9 more important in hspSWEurope, 12.5 in hspSWEColombia and 10.5 in hspColombia, reflecting the divergence of these subpopulations. Fst analysis identified 82 SNPs fixed in 26 genes of the hspColombia subpopulation that encode for outer membrane and central metabolism proteins. Strongest fixation indexes were identified in genes encoding HofC, HopE, FrpB-4 and Sialidase A. These findings demonstrate that H. pylori has evolved in Colombia to give rise to subpopulations with a self identity ancestry, reflected in allele changes on genes encoding for outer membrane proteins.
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- 2022
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4. Comparison of stationary and nonstationary estimation of return period for sewer design in Antioquia (Colombia)
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PAOLA A. CHICA-OSORIO, LUIS F. CARVAJAL-SERNA, and ANDRÉS OCHOA
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Reliability ,return period ,risk ,sewer design ,time series ,Science - Abstract
Abstract Estimating the probability of occurrence of extreme hydrologic events is a fundamental input in the design of hydraulic infrastructure. The classical approach to this problem has been to fit parametric probability functions to annual maxima streamflow data and use them to calculate the risk of failure. An underlying assumption of this approach is the stationarity of the time series. However, the stationarity of streamflows may not hold due to the effect of land cover change and climate change on rainfall runoff processes on watersheds. This study assesses the effect of considering non-stationarity in the estimation of design peak flows at 33 gauging stations in the state of Antioquia, Colombia. Particularly, the effect of non-stationarity in the mean of Gumbel-distributed peak flows is evaluated. This study focuses on the 5-yr and 10-yr return period annual flood flows, which are customary in the design of type sewerage systems. The results show similar behaviours for both return periods. All gauge stations show an asymptotically tendency in the risk of failure to 100% as the project lifetime tends to 30 years. In general, 71.4% of gauging stations show that the estimated risk of failure is larger when non-stationary conditions are assumed, relative to assuming stationary conditions, and that the magnitude of the difference increases for larger return periods. The rest of gauging stations shows the opposite behaviour. Our results support the use of a probability model that includes non-stationary in the mean, and they suggest that a model that also includes non-stationary in the variance could be important.
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- 2022
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5. Cancer screening and breast cancer family history in Spanish-speaking Hispanic/Latina women in California
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Lizeth I. Tamayo, Fabian Perez, Angelica Perez, Miriam Hernandez, Alejandra Martinez, Xiaosong Huang, Valentina A. Zavala, Elad Ziv, Susan L. Neuhausen, Luis G. Carvajal-Carmona, Ysabel Duron, and Laura Fejerman
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breast cancer health disparities ,hereditary breast cancer ,cancer education ,Hispanic/Latina ,cancer family history ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,RC254-282 - Abstract
BackgroundBreast cancer is the most common cancer among women in the U.S. and the leading cause of cancer death among Hispanics/Latinas (H/L). H/L are less likely than Non-H/L White (NHW) women to be diagnosed in the early stages of this disease. Approximately 5-10% of breast cancer can be attributed to inherited genetic mutations in high penetrance genes such as BRCA1/2. Women with pathogenic variants in these genes have a 40-80% lifetime risk of breast cancer. Past studies have shown that genetic counseling can help women and their families make informed decisions about genetic testing and early cancer detection or risk-reduction strategies. However, H/L are 3.9-4.8 times less likely to undergo genetic testing than NHW women. We developed a program to outreach and educate the H/L community about hereditary breast cancer, targeting monolingual Spanish-speaking individuals in California. Through this program, we have assessed cancer screening behavior and identified women who might benefit from genetic counseling in a population that is usually excluded from cancer research and care.Materials and MethodsThe “Tu Historia Cuenta” program is a promotores-based virtual outreach and education program including the cities of San Francisco, Sacramento, and Los Angeles. Participants responded to three surveys: a demographic survey, a breast cancer family history survey, and a feedback survey. Survey responses were described for participants and compared by area where the program took place using chi-square, Fisher exact tests, and t tests. Multinomial logistic regression models were used for multivariate analyses.Results and ConclusionWe enrolled 1042 women, 892 completed the cancer family history survey and 62 (7%) provided responses compatible with referral to genetic counseling. We identified 272 women (42.8% ages 40 to 74 years) who were due for mammograms, 250 women (24.7% ages 25 to 65 years) due for Papanicolaou test, and 189 women (71.6% ages 50+) due for colorectal cancer screening. These results highlight the need of additional support for programs that spread awareness about cancer risk and facilitate access to resources, specifically within the H/L community.
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- 2022
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6. A Cancer Health Needs Assessment Reveals Important Differences Between US-Born and Foreign-Born Latinos in California
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Juanita Elizabeth Quino, Fabian Perez, Angelica Perez, April Pangia Vang, Leonie Avendano, Julie Dang, Moon S. Chen, Alexa Morales Arana, Sienna Rocha, Miriam Nuno, Primo N. Lara, Laura Fejerman, and Luis G. Carvajal-Carmona
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health disparities ,nativity ,needs assessment ,Latino health ,preventative screenings ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,RC254-282 - Abstract
BackgroundCancer is the leading cause of death among Latinos, the largest minority population in the United States (US). To address cancer challenges experienced by Latinos, we conducted a catchment area population assessment (CAPA) using validated questions from the National Cancer Institute (NCI) population health assessment supplement at our NCI-designated cancer center in California.MethodsA mixed-methods CAPA was administered by bilingual-bicultural staff, with a focus on understanding the differences between foreign-born and US-born Latinos.Results255 Latinos responded to the survey conducted between August 2019 and May 2020. Most respondents were foreign-born (63.9%), female (78.2%), and monolingual Spanish speakers (63.2%). Results showed that compared to US-born Latinos, foreign-born individuals were older, had lower educational attainment, were most likely to be monolingual Spanish speakers, were low-income, and were more likely to be uninsured. Foreign-born Latinos had lower levels of alcohol consumption and higher consumption of fruits and vegetables. The rate of preventive cancer screenings for breast, cervical and colorectal cancer did not differ by birthplace, although a low fraction (35.3%) of foreign-born Latinas who were up-to-date compared to US-born Latinas (83.3%) with colorectal cancer screening was observed. Time since the last routine check-up for all preventable cancers (cervical p=0.0002, breast p=0.0039, and colorectal p=0.0196) is significantly associated with being up to date with cancer screening. Individuals who had a check-up of two or more years ago are 84% less likely to be up to date with pap smears than those who had a check-up within the year (p=0.0060). Individuals without health insurance are 94% less likely to be up to date with mammograms and colonoscopy/FIT tests (p=0.0016 and p=0.0133, respectively) than those who are insured. There is no significant association between screening and nativity.ConclusionsConsiderable differences in socio-economic and environmental determinants of health and colorectal cancer screening rates were observed between US-born and foreign-born Latinos. The present study represents the foundation for future targeted intervention among immigrant populations at our cancer center’s catchment area.
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- 2022
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7. Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia
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Anna Marie De Asis Tuazon, Paul Lott, Mabel Bohórquez, Jennyfer Benavides, Carolina Ramirez, Angel Criollo, Ana Estrada-Florez, Gilbert Mateus, Alejandro Velez, Jenny Carmona, Justo Olaya, Elisha Garcia, Guadalupe Polanco-Echeverry, Jacob Stultz, Carolina Alvarez, Teresa Tapia, Patricia Ashton-Prolla, Brazilian Familial Cancer Network, Ana Vega, Conxi Lazaro, Eva Tornero, Cristina Martinez-Bouzas, Mar Infante, Miguel De La Hoya, Orland Diez, Brian L. Browning, COLUMBUS Consortium, Bruce Rannala, Manuel R. Teixeira, Pilar Carvallo, Magdalena Echeverry, and Luis G. Carvajal-Carmona
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Breast cancer ,Haplotype ,BRCA1 c.3331_3334delCAAG ,Founder mutation ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,RC254-282 - Abstract
Abstract Background The BRCA1 c.3331_3334delCAAG founder mutation has been reported in hereditary breast and ovarian cancer families from multiple Hispanic groups. We aimed to evaluate BRCA1 c.3331_3334delCAAG haplotype diversity in cases of European, African, and Latin American ancestry. Methods BC mutation carrier cases from Colombia (n = 32), Spain (n = 13), Portugal (n = 2), Chile (n = 10), Africa (n = 1), and Brazil (n = 2) were genotyped with the genome-wide single nucleotide polymorphism (SNP) arrays to evaluate haplotype diversity around BRCA1 c.3331_3334delCAAG. Additional Portuguese (n = 13) and Brazilian (n = 18) BC mutation carriers were genotyped for 15 informative SNPs surrounding BRCA1. Data were phased using SHAPEIT2, and identical by descent regions were determined using BEAGLE and GERMLINE. DMLE+ was used to date the mutation in Colombia and Iberia. Results The haplotype reconstruction revealed a shared 264.4-kb region among carriers from all six countries. The estimated mutation age was ~ 100 generations in Iberia and that it was introduced to South America early during the European colonization period. Conclusions Our results suggest that this mutation originated in Iberia and later introduced to Colombia and South America at the time of Spanish colonization during the early 1500s. We also found that the Colombian mutation carriers had higher European ancestry, at the BRCA1 gene harboring chromosome 17, than controls, which further supported the European origin of the mutation. Understanding founder mutations in diverse populations has implications in implementing cost-effective, ancestry-informed screening.
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- 2020
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8. Análisis hidrodinámico bidimensional del drenaje superficial en una vía urbana
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Luis Fernando Carvajal-Serna, Manuel Guillermo Cardenas, and Ramiro Vicente Marbello
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sumidero ,iber ,estabilidad peatonal ,drenaje urbano ,modelación 2d ,Technology ,Mining engineering. Metallurgy ,TN1-997 - Abstract
Se presenta la modelación hidrodinámica 2D de un tramo de una vía urbana considerando las características de topografía, distribución de sumideros y cruces de vías, con el objeto de definir mejores criterios de diseño del drenaje vial urbano. El flujo preferente indica la distribución espacial donde se concentra la mayor cantidad de caudal unitario, el cual permite determinar un alineamiento interno para la ubicación de sumideros. Se evalúan diferentes escenarios de análisis que incluye la variación de los tipos de entrada de caudal, la intensidad de lluvia y la distancia entre sumideros, complementados con la inclusión de umbrales de peligrosidad de la escorrentía para los peatones. De los escenarios simulados se obtienen los comportamientos particulares del flujo sobre la vía y se define un criterio básico para la longitud de separación entre sumideros con base en un equilibrio entre criterios hidráulicos, de riesgo y económicos.
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- 2019
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9. BRAF and TERT mutations in papillary thyroid cancer patients of Latino ancestry
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Ana P Estrada-Flórez, Mabel E Bohórquez, Alejandro Vélez, Carlos S Duque, Jorge H Donado, Gilbert Mateus, Cesar Panqueba-Tarazona, Guadalupe Polanco-Echeverry, Ruta Sahasrabudhe, Magdalena Echeverry, and Luis G Carvajal-Carmona
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cancer risk factors ,somatic mutations ,Hispanics ,BRAF ,TERT ,Diseases of the endocrine glands. Clinical endocrinology ,RC648-665 - Abstract
Papillary thyroid cancer (PTC) is the second most commonly diagnosed malignancy in U.S. Latinas and in Colombian women. Studies in non-Latinos indicate that BRAF and TERT mutations are PTC prognostic markers. This study aimed to determine the prevalence and clinical associations of BRAF and TERT mutations in PTC Latino patients from Colombia. We analyzed mutations of BRAF (V600E) and TERT promoter (C228T, C250T) in tumor DNA from 141 patients (75 with classical variant PTC, CVPTC; 66 with follicular variant PTC, FVPTC) recruited through a multi-center study. Associations between mutations and clinical variables were evaluated with Fisher exact tests. Survival was evaluated with Kaplan–Meier plots. Double-mutant tumors (BRAF+/TERT+, n = 14 patients) were more common in CVPTC (P = 0.02). Relative to patients without mutations (n = 48), double mutations were more common in patients with large tumors (P = 0.03), lymph node metastasis (P = 0.01), extra-thyroid extension (P = 0.03), and advanced stage (P = 6.0 × 10−5). In older patients, TERT mutations were more frequent (mean age 51 years vs 45 years for wild type TERT, P = 0.04) and survival was lower (HR = 1.20; P = 0.017); however, given the small sample size, the decrease in survival was not statically significant between geno types. Comparisons with published data in US whites revealed that Colombian patients had a higher prevalence of severe pathological features and of double-mutant tumors (10 vs 6%, P = 0.001). Mutations in both oncogenes show prognostic associations in Latinos from Colombia. Our study is important to advance Latino PTC precision medicine and replicates previous prognostic associations between BRAF and TERT in this population.
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- 2019
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10. Curvas Intensidad-Duración-Frecuencia no estacionarias para la cuenca del río Medellín
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Luis Fernando Carvajal-Serna and Daniela Grajales-Cardona
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variabilidad climática ,curvas IDF ,Gumbel ,L-momentos ,no-estacionario ,precipitación ,test de Mann Kendall ,cambio climático. ,Technology ,Mining engineering. Metallurgy ,TN1-997 - Abstract
Las curvas Intensidad-Duración-Frecuencia (IDF) actuales suponen que la precipitación no varía significativamente con el tiempo, subestimando así sus eventos extremos, lo que aumenta el riesgo de inundaciones y de daños en la infraestructura, es por esto que se deben estudiar metodologías que permitan su estimación en condición de cambio climático, es decir, con un enfoque no estacionario, tal como en este estudio, en el que se estimaron curvas IDF estacionarias y no estacionarias para 9 estaciones pluviográficas dispuestas sobre la cuenca del río Medellín. Para ajustar las series de tiempo de precipitación se hizo uso de la distribución de valores extremos EV1, sus parámetros estacionarios fueron calculados por medio del método de los L-momentos y los no estacionarios por el de ventanas móviles. Se evidencia el efecto del cambio climático en intensidades altas y duraciones pequeñas, obteniéndose que el enfoque estacionario puede subestimar los eventos extremos hasta en un 39%.
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- 2019
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11. Sindicalismo docente y Movimientos de Renovación Pedagógica frente al neoliberalismo educativo: los casos de España, Argentina y Chile
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Luis Miguel Carvajal Diaz
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educación pública ,educación privada ,sindicato ,legislación educativa ,globalización ,Education ,Education (General) ,L7-991 - Abstract
El presente artículo se ocupa de analizar los conflictos entre el sindicalismo docente y los Movimientos de Renovación Pedagógica (MRP) con el neoliberalismo educativo implantado por los Gobiernos de España, Argentina y Chile durante las últimas cuatro décadas. Sus objetivos son establecer las razones que llevaron a estos colectivos a oponerse al avance de la instrucción privada sobre la educación pública en estos tres países afines por razones históricas y culturales, además de señalar las limitaciones de sus respectivas acciones y proponer vías superadoras de estos condicionantes. El método a emplear será el histórico-comparativo para establecer analogías y diferencias entre los casos estudiados, empleando para ello, fuentes primarias y secundarias. Los tres ejemplos nacionales serán analizados de acuerdo a un orden cronológico basado en la implantación del neoliberalismo educativo y los distintos tipos de gobierno que promovieron esta acción. Posteriormente, se compararán sus semejanzas y diferencias a fin de hallar posibles convergencias en su desarrollo. Como conclusión se desarrollará una propuesta, desde una perspectiva holística, de las limitaciones de las acciones de protesta en sus respectivos países de los MRP y sindicatos docentes tendente a coordinar sus actuaciones de manera supranacional y en la defensa de la escuela pública frente a la instrucción privada.
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- 2019
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12. The Genetic Population Structure of Robinson Crusoe Island, Chile
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Hayley S. Mountford, Pía Villanueva, María Angélica Fernández, Lilian Jara, Zulema De Barbieri, Luis G. Carvajal-Carmona, Jean-Baptiste Cazier, and Dianne F. Newbury
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Robinson Crusoe Island ,population genetics ,admixture ,Chile ,Latin America ,Genetics ,QH426-470 - Abstract
Studies examining genetic conditions common in Latin America are highly underrepresented in the scientific literature. Understanding of the population structure is limited, particularly Chile, in part due to the lack of available population specific data. An important first-step in elucidating disease mechanisms in Latin America countries is to understand the genetic structure of isolated populations. Robinson Crusoe Island (RCI) is a small land mass off the coast of Chile. The current population of over 900 inhabitants are primarily descended from a small number of founders who colonized the island in the late 1800s. Extensive genealogical records can trace the ancestry of almost the entire population. We perform a comprehensive genetic analysis to investigate the ancestry of the island population, examining ancestral mitochondrial and Y chromosome haplogroups, as well as autosomal admixture. Mitochondrial and Y chromosome haplogroups indicated a substantial European genetic contribution to the current RCI population. Analysis of the mitochondrial haplogroups found in the present-day population revealed that 79.1% of islanders carried European haplogroups, compared to 60.0% of the mainland Chilean controls from Santiago. Both groups showed a substantially lower contribution of indigenous haplogroups than expected. Analysis of the Y chromosome haplogroups also showed predominantly European haplogroups detected in 92.3% of male islanders and 86.7% of mainland Chilean controls. Using the near-complete genealogical data collected from the RCI population, we successfully inferred the ancestral haplogroups of 16/23 founder individuals, revealing genetic ancestry from Northern and Southern Europe. As mitochondrial and Y investigations only provide information for direct maternal and paternal lineages, we expanded this to investigate genetic admixture using the autosomes. Admixture analysis identified substantial indigenous genetic admixture in the RCI population (46.9%), higher than that found in the Santiago mainland Chilean controls (43.4%), but lower than a more representative Chilean population (Chile_GRU) (49.1%). Our study revealed the Robinson Crusoe Island population show a substantial genetic contribution for indigenous Chileans, similar to the level reported in mainland Chileans. However, direct maternal and paternal haplogroup analysis revealed strong European genetic contributions consistent with the history of the Island.
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- 2020
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13. Editorial: Accomplishments, Collaborative Projects and Future Initiatives in Breast Cancer Genetic Predisposition
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Paolo Peterlongo and Luis G. Carvajal-Carmona
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breast cancer genetic predisposition ,GWAS ,VUS ,PRS ,splicing ,Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,RC254-282 - Published
- 2019
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14. Viscosity Measurement Sensor: A Prototype for a Novel Medical Diagnostic Method Based on Quartz Crystal Resonator
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Andrés Miranda-Martínez, Marco Xavier Rivera-González, Michael Zeinoun, Luis Armando Carvajal-Ahumada, and José Javier Serrano-Olmedo
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quartz crystal resonator ,viscosity ,synovial fluid ,cerebrospinal fluid ,diagnostic sensor ,Chemical technology ,TP1-1185 - Abstract
Viscosity variation in human fluids, such as Synovial Fluid (SF) or Cerebrospinal Fluid (CSF), can be used as a diagnostic factor; however, the sample volume obtained for analysis is usually small, making it difficult to measure its viscosity. On the other hand, Quartz Crystal Resonators (QCR) have been used widely in sensing applications due to their accuracy, cost, and size. This work provides the design and validation of a new viscosity measurement system based on quartz crystal resonators for low volume fluids, leading to the development of a sensor called “ViSQCT” as a prototype for a new medical diagnostic tool. The proposed method is based on measuring the resonance frequency at the crystal’s maximum conductance point through a frequency sweep, where crystals with 10 MHz fundamental resonance frequency were used. For validation purposes, artificial fluids were developed to simulate SFs and CFs in healthy and pathological conditions as experiment phantoms. A commercial QCR based system was also used for validation since its methodology differs from ours. A conventional rotational viscometer was used as a reference for calibration purposes. ViSQCT demonstrates the capability to measure the sample’s viscosity differentiation between healthy and pathological fluid phantoms and shows that it can be used as a basis for a diagnostic method of several pathologies related to the studied biological fluids. However, some performance differences between both QCR-based systems compared to the reference system deserves further investigation.
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- 2021
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15. The HABP2 G534E polymorphism does not increase nonmedullary thyroid cancer risk in Hispanics
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Mabel E Bohórquez, Ana P Estrada, Jacob Stultz, Ruta Sahasrabudhe, John Williamson, Paul Lott, Carlos S Duque, Jorge Donado, Gilbert Mateus, Fernando Bolaños, Alejandro Vélez, Magdalena Echeverry, and Luis G Carvajal-Carmona
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HABP2 ,G534E ,thyroid cancer ,Hispanics ,Diseases of the endocrine glands. Clinical endocrinology ,RC648-665 - Abstract
Familial nonmedullary thyroid cancer (NMTC) has not been clearly linked to causal germline variants, despite the large role that genetic factors play in risk. Recently, HABP2 G534E (rs7080536A) has been implicated as a causal variant in NMTC. We have previously shown that the HABP2 G534E variant is not associated with TC risk in patients from the British Isles. Hispanics are the largest and the youngest minority in the United States and NMTC is now the second most common malignancy in women from this population. In order to determine if the HABP2 G534E variant played a role in NMTC risk among Hispanic populations, we analyzed 281 cases and 1105 population-matched controls from a multicenter study in Colombia, evaluating the association through logistic regression. We found that the HABP2 G534E variant was not significantly associated with NMTC risk (P=0.843) in this Hispanic group. We also stratified available clinical data by multiple available clinicopathological variables and further analyzed the effect of HABP2 on NMTC presentation. However, we failed to detect associations between HABP2 G534E and NMTC risk, regardless of disease presentation (P≥0.273 for all cases). Therefore, without any significant associations between the HABP2 G534E variant and NMTC risk, we conclude that the variant is not causal of NMTC in this Hispanic population.
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- 2016
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16. Cancer screening and breast cancer family history in Spanish-speaking Hispanic/Latina women in California
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Lizeth I. Tamayo, Fabian Perez, Angelica Perez, Miriam Hernandez, Alejandra Martinez, Xiaosong Huang, Valentina A. Zavala, Elad Ziv, Susan L. Neuhausen, Luis G. Carvajal-Carmona, Ysabel Duron, and Laura Fejerman
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Cancer Research ,Prevention ,Oncology and Carcinogenesis ,Hispanic ,hereditary breast cancer ,Health Services ,Hispanic/Latina ,cancer education ,Latina ,Oncology ,Clinical Research ,Breast Cancer ,Genetics ,Genetic Testing ,cancer family history ,breast cancer health disparities ,Cancer - Abstract
BackgroundBreast cancer is the most common cancer among women in the U.S. and the leading cause of cancer death among Hispanics/Latinas (H/L). H/L are less likely than Non-H/L White (NHW) women to be diagnosed in the early stages of this disease. Approximately 5-10% of breast cancer can be attributed to inherited genetic mutations in high penetrance genes such as BRCA1/2. Women with pathogenic variants in these genes have a 40-80% lifetime risk of breast cancer. Past studies have shown that genetic counseling can help women and their families make informed decisions about genetic testing and early cancer detection or risk-reduction strategies. However, H/L are 3.9-4.8 times less likely to undergo genetic testing than NHW women. We developed a program to outreach and educate the H/L community about hereditary breast cancer, targeting monolingual Spanish-speaking individuals in California. Through this program, we have assessed cancer screening behavior and identified women who might benefit from genetic counseling in a population that is usually excluded from cancer research and care.Materials and MethodsThe “Tu Historia Cuenta” program is a promotores-based virtual outreach and education program including the cities of San Francisco, Sacramento, and Los Angeles. Participants responded to three surveys: a demographic survey, a breast cancer family history survey, and a feedback survey. Survey responses were described for participants and compared by area where the program took place using chi-square, Fisher exact tests, and t tests. Multinomial logistic regression models were used for multivariate analyses.Results and ConclusionWe enrolled 1042 women, 892 completed the cancer family history survey and 62 (7%) provided responses compatible with referral to genetic counseling. We identified 272 women (42.8% ages 40 to 74 years) who were due for mammograms, 250 women (24.7% ages 25 to 65 years) due for Papanicolaou test, and 189 women (71.6% ages 50+) due for colorectal cancer screening. These results highlight the need of additional support for programs that spread awareness about cancer risk and facilitate access to resources, specifically within the H/L community.
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- 2023
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17. Comprehensive characterization of 536 patient-derived xenograft models prioritizes candidatesfor targeted treatment
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Li Chen, Jacqueline Mudd, Michael Ittmann, Carol J. Bult, Amanda R. Kirane, Jelena Randjelovic, Stephen Scott, Yige Wu, Li Ding, Vashisht G. Yennu-Nanda, Jing Wang, Christopher D. Lanier, Maihi Fujita, Emilio Cortes-Sanchez, Sienna Rocha, Susan G. Hilsenbeck, Kian-Huat Lim, Fernanda Martins Rodrigues, Jill Rubinstein, Nicholas Mitsiades, Haiyin Lin, Jayamanna Wickramasinghe, Andrew Butterfield, Bryan E. Welm, Alana L. Welm, Jose P. Zevallos, Jason Held, Nicole B. Coggins, Song Cao, Yuanxin Xi, Brenda C. Timmons, Paul Lott, David Menter, Shunqiang Li, Tina Primeau, Fei Yang, Andrea Wang-Gillam, Ramaswamy Govindan, Dali Li, Brandi Davis-Dusenbery, Sara Seepo, Michael C. Wendl, Jeffrey Grover, Brian S. White, Clifford G. Tepper, Peter N. Robinson, Michael A. Davies, Zhengtao Chu, Michael W. Lloyd, Hua Sun, Xiaoshan Zhang, Tamara Stankovic, Dylan Fingerman, Anuj Srivastava, Luis G. Carvajal-Carmona, Don L. Gibbons, Lijun Yao, Rebecca Aft, Hongyong Zhang, Ismail Meraz, John DiGiovanna, Scott Kopetz, Ling Zhao, Guadalupe Polanco-Echeverry, Feng Chen, Jeremy Hoog, Matthew A. Wyczalkowski, George Xu, John D. Minna, Yi Xu, Julie Belmar, Xiaowei Xu, Luc Girard, Dennis A. Dean, Tijana Borovski, Chong-xian Pan, Cynthia X. Ma, Alexa Morales Arana, Yize Li, Turcin Saridogan, Steven B. Neuhauser, Sandra Scherer, Vicki Chin, Rose Tipton, David R. Gandara, Sherri R. Davies, Argun Akcakanat, Rajesh Patidar, Julie K. Schwarz, Soner Koc, Gao Boning, Michael Kim, Bryce P. Kirby, Yvonne A. Evrard, Hyunsil Park, Christian Frech, Chia-Kuei Mo, Ran Zhang, Brian A. Van Tine, Jonathan W. Reiss, Min Xiao, Xing Yi Woo, Tiffany Le, Ana Estrada, Xiaofeng Zheng, Jeffrey A. Moscow, Mourad Majidi, Nadezhda V. Terekhanova, Katherine Fuh, Erkan Yuca, Timothy A. Yap, Jianhua Zhang, Matthew J. Ellis, Shannon Westin, James H. Doroshow, Vito W. Rebecca, Moon S. Chen, Coya Tapia, Reyka G Jayasinghe, Jack A. Roth, Jithesh Augustine, Ryan C. Fields, Michae T. Tetzlaff, Michael T. Lewis, Kurt W. Evans, Ralph W. deVere White, Brian J. Sanderson, May Cho, Jeffrey H. Chuang, Tiffany Wallace, Ryan Jeon, Ted Toal, Matthew H. Bailey, Bert W. O'Malley, Katherine L. Nathanson, Qin Liu, Benjamin J. Raphael, Jingqin Luo, Salma Kaochar, Huiqin Chen, Rajasekharan Somasundaram, Daniel Cui Zhou, John F. DiPersio, Andrew V. Kossenkov, Bingliang Fang, Vanessa Jensen, Simone Zaccaria, Alexey Sorokin, Ai-Hong Ma, Sidharth V. Puram, Min Jin Ha, Meenhard Herlyn, R. Jay Mashl, Kelly Gale, Bingbing Dai, Lacey E. Dobrolecki, Chieh-Hsiang Yang, and Funda Meric-Bernstam
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endocrine system ,Science ,Druggability ,General Physics and Astronomy ,Genomics ,Computational biology ,Biology ,Genome ,digestive system ,General Biochemistry, Genetics and Molecular Biology ,Article ,Research community ,Multiple time ,medicine ,Cancer genomics ,Cancer models ,Tumor xenograft ,Multidisciplinary ,Cancer ,General Chemistry ,medicine.disease ,Pharmacogenomics ,Data integration ,hormones, hormone substitutes, and hormone antagonists - Abstract
Development of candidate cancer treatments is a resource-intensive process, with the research community continuing to investigate options beyond static genomic characterization. Toward this goal, we have established the genomic landscapes of 536 patient-derived xenograft (PDX) models across 25 cancer types, together with mutation, copy number, fusion, transcriptomic profiles, and NCI-MATCH arms. Compared with human tumors, PDXs typically have higher purity and fit to investigate dynamic driver events and molecular properties via multiple time points from same case PDXs. Here, we report on dynamic genomic landscapes and pharmacogenomic associations, including associations between activating oncogenic events and drugs, correlations between whole-genome duplications and subclone events, and the potential PDX models for NCI-MATCH trials. Lastly, we provide a web portal having comprehensive pan-cancer PDX genomic profiles and source code to facilitate identification of more druggable events and further insights into PDXs’ recapitulation of human tumors., Patient-derived xenograft models (PDX) have been extensively used to study the molecular and clinical features of cancers. Here the authors present a cohort of 536 PDX models from 25 cancers, as well as their genomic and evolutionary profiles and their suitability for clinical trials.
- Published
- 2021
18. Población de macrofauna en sistemas silvopastoriles dedicados a la producción lechera:análisis preliminar
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Diego Marcelo Caicedo Rosero, Hernán Rigoberto Benavides Rosales, Luis Alfredo Carvajal Pérez, and Jessica Paola Ortega Hernández
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biota ,comparación ,índices de biodiversidad ,Carchi ,Ecuador ,Agriculture ,Agriculture (General) ,S1-972 ,Science (General) ,Q1-390 - Abstract
En esta investigación se presenta un estudio de la macrofauna en suelos silvopastoriles dedicados a la producción de leche, cuyo objetivo fue analizar las poblaciones de biota del suelo en sistemas de tratamiento silvopastoriles con las especies: aliso (Alnus acuminata), acacia (Acacia melanoxylon), y una mezcla forrajera. Los tratamientos están conformados en tres secciones: aliso y pasto; acacia y pasto, y el testigo solo pasto. En una primera etapa se realizaron 30 muestras en cada tratamiento, en los meses de baja precipitación, cada muestra es un cuadrante de 30 cm. x 30 cm. X 30 cm., en el cual se contabilizó la biota existente. Los datos de las poblaciones se analizaron usando los índices de biodiversidad como riqueza de Margalef, índice de dominancia de Berger – Parker, el índice de dominancia de Simpson y el índice de biodiversidad de Shannon, datos que permitieron concluir que la variación en número de especies no es significativa entre tratamientos y la existencia de biota mantiene la productividad. Además, estos datos servirán en una segunda investigación para hacer comparaciones del número de especies en meses de mayor y menor precipitación.
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- 2017
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19. Embolización de colaterales en niños con cardiopatías congénitas. Experiencia en un centro cardiovascular
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Luis F. Carvajal, César O. Bretón, Margarita M. Zapata, Mónica I. Guzmán, Miguel A. Ruz, Juan R. Donado, Luis H. Díaz, Rafael Lince, and Gloria Franco
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Embolización ,Malformaciones vasculares ,Cardiopatía congénita ,Cateterismo cardíaco ,Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Abstract
Objetivo: Proceder a un análisis descriptivo de los pacientes a quienes se les realizaron embolizaciones de colaterales por vía percutánea. Materiales y métodos: Se revisaron las historias clínicas de 27 pacientes entre febrero de 2004 y marzo de 2012. Se hace una descripción de las variables analizadas. Resultados: En el período descrito se efectuó la embolización percutánea de 33 colaterales en 27 pacientes. La edad promedio al momento del procedimiento fue de 53 meses (1-143 meses). Al 68% se les había realizado previamente cirugía de Glenn o de Fontan, al 8% fístula Blalock-Taussig y al 24% otros procedimientos quirúrgicos. En el 76% de los casos el vaso embolizado fue una colateral venovenosa, y en el 24% restante, una colateral aortopulmonar. Los dispositivos mecánicos fueron los más utilizados (coils y plug vascular). El Amplatzer Vascular Plug se usó para embolizar colaterales de mayor tamaño. Se obtuvo la oclusión inmediata en el 92% de los casos. No hubo mortalidad asociada con los procedimientos. Discusión y conclusiones: La embolización de colaterales por vía percutánea es un procedimiento seguro y con alta tasa de eficacia. Los dispositivos utilizados mostraron ser igualmente efectivos.
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- 2014
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20. First in class dual MDM2/MDMX inhibitor ALRN-6924 enhances antitumor efficacy of chemotherapy in TP53 wild-type hormone receptor-positive breast cancer models
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Vincent Guerlavais, David Sutton, Argun Akcakanat, Manuel Aivado, Fei Yang, Ecaterina Ileana Dumbrava, Kurt W. Evans, Funda Meric-Bernstam, A. Annis, Seyed Pairawan, Luis A. Carvajal, Ming Zhao, Solimar Santiago, Erkan Yuca, Priya Subash Chandra Bose, Coya Tapia, Jian-Guo Ren, and Xiaofeng Zheng
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p53 ,MDMX ,MDM2/MDMX Inhibitor ALRN-6924 ,Mitosis ,Antineoplastic Agents ,Apoptosis ,Breast Neoplasms ,Cell Cycle Proteins ,lcsh:RC254-282 ,Mice ,03 medical and health sciences ,chemistry.chemical_compound ,0302 clinical medicine ,Breast cancer ,In vivo ,Cell Line, Tumor ,Proto-Oncogene Proteins ,MDM4 inhibitor ,Biomarkers, Tumor ,medicine ,Animals ,Humans ,Chemotherapy ,Protein Kinase Inhibitors ,Cell Proliferation ,030304 developmental biology ,0303 health sciences ,Dose-Response Relationship, Drug ,Cell growth ,business.industry ,Drug Synergism ,Proto-Oncogene Proteins c-mdm2 ,Cell cycle ,medicine.disease ,lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens ,Xenograft Model Antitumor Assays ,Disease Models, Animal ,chemistry ,Paclitaxel ,MDM2 inhibitor ,030220 oncology & carcinogenesis ,Cancer research ,Female ,Tumor Suppressor Protein p53 ,business ,Research Article ,Eribulin - Abstract
Background MDM2/MDMX proteins are frequently elevated in hormone receptor-positive (ER+) breast cancer. We sought to determine the antitumor efficacy of the combination of ALRN-6924, a dual inhibitor of MDM2/MDMX, with chemotherapy in ER+ breast cancer models. Methods Three hundred two cell lines representing multiple tumor types were screened to confirm the role of TP53 status in ALRN-6924 efficacy. ER+ breast cancer cell lines (MCF-7 and ZR-75-1) were used to investigate the antitumor efficacy of ALRN-6924 combination. In vitro cell proliferation, cell cycle, and apoptosis assays were performed. Xenograft tumor volumes were measured, and reverse-phase protein array (RPPA), immunohistochemistry (IHC), and TUNEL assay of tumor tissues were performed to evaluate the in vivo pharmacodynamic effects of ALRN-6924 with paclitaxel. Results ALRN-6924 was active in wild-type TP53 (WT-TP53) cancer cell lines, but not mutant TP53. On ER+ breast cancer cell lines, it was synergistic in vitro and had enhanced in vivo antitumor activity with both paclitaxel and eribulin. Flow cytometry revealed signs of mitotic crisis in all treatment groups; however, S phase was only decreased in MCF-7 single agent and combinatorial ALRN-6924 arms. RPPA and IHC demonstrated an increase in p21 expression in both combinatorial and single agent ALRN-6924 in vivo treatment groups. Apoptotic assays revealed a significantly enhanced in vivo apoptotic rate in ALRN-6924 combined with paclitaxel treatment arm compared to either single agent. Conclusion The significant synergy observed with ALRN-6924 in combination with chemotherapeutic agents supports further evaluation in patients with hormone receptor-positive breast cancer.
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- 2021
21. MODELO AUTORREGRESIVO BILINEAL APLICADO A LA PREDICCIÓN MENSUAL DE CAUDALES EN COLOMBIA
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Juan David Cadavid and Luis Fernando Carvajal
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Modelación estocástica ,modelo autorregresivo bilineal ,predicción de caudales ,Technology ,Engineering (General). Civil engineering (General) ,TA1-2040 - Abstract
Se aplica un modelo estocástico bilineal, el cual inicialmente es propuesto para análisis de retornos financieros y otros sistemas complejos combinando la alta no linealidad y multiplicidad del ruido. Este modelo, por su carácter aleatorio, no tiene componente determinística que permita considerar la persistencia de los caudales en una aplicación a la Hidrología. Por lo tanto, se propone el acoplamiento entre la parte determinística de un modelo autorregresivo de orden 2 y el modelo estocástico bilineal como componente aleatorio, y se obtiene un modelo autorregresivo bilineal (MAB). El MAB se empleó para la predicción de caudales en ventanas de 3, 6 y 12 meses en 12 ríos de Colombia de diferentes regiones del país. El MAB tiene una estructura simple y muestra una mejora sustancial en la disminución de los errores para los caudales máximos y mínimos en el período de validación respecto de los modelos estocásticos tradicionales.
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- 2013
22. UN MODELO DE GESTIÓN DE LA CALIDAD Y CANTIDAD DE AGUA CON LÓGICA DIFUSA GRIS PARA EL RÍO ABURRÁ
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Luis Fernando Carvajal Serna
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Inteligencia artificial ,lógica difusa gris ,optimización ,gestión del agua ,calidad del agua ,río Aburrá (Colombia) ,Technology ,Engineering (General). Civil engineering (General) ,TA1-2040 - Abstract
Este artículo presenta un modelo de lógica difusa gris para la gestión de la calidad y cantidad del agua en el río Aburrá, el cual permite tener en cuenta la incertidumbre de los parámetros ambientales, que por lo general hacen que la toma de decisiones para las autoridades ambientales presente conflictos con los descargadores o contaminadores de los cuerpos de agua. La aplicación del modelo se hizo a una campaña del río Aburrá tomando como datos el caudal, el oxígeno disuelto y la demanda bioquímica de oxígeno. El modelo toma los aportes de las quebradas como los puntos de contaminación de los descargadores. Este modelo implica una optimización de acuerdo con los objetivos de la autoridad ambiental y los descargadores. El modelo se desarrolló en Matlab. Como conclusión se muestra el potencial del modelo para la gestión del agua del río y para alcanzar las metas planteadas por la autoridad ambiental.
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- 2013
23. ESTUDIO DEL MODELAMIENTO DE LA CALIDAD DEL AGUA DEL RÍO SINÚ, COLOMBIA
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Diana Marcela Arroyave Gómez, Agustín Alejandro Moreno Tovar, Francisco Mauricio Toro Botero, Darío de Jesús Gallego Suárez, and Luis Fernando Carvajal Serna
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Algoritmo genético ,QUAL2KW ,Monte Carlo ,modelamiento de la calidad del agua ,Technology ,Engineering (General). Civil engineering (General) ,TA1-2040 - Abstract
En este estudio se presenta la modelación de la calidad del agua en el río Sinú, Colombia, en el tramo central entre la central hidroeléctrica de Urrá y la desembocadura al mar Caribe, usando el modelo QUAL2KW que incorpora el algoritmo genético PIKAIA, que permite la calibración de las constantes cinéticas. Específicamente, se presenta la metodología usada para la caracterización hidráulica, la segmentación de la corriente y el uso del método de muestreo Monte-Carlo para determinar los parámetros de calidad de agua de mayor sensibilidad, y demostrar que el modelo QUAL2KW no pudo ser calibrado para el río Sinú con la información de campo disponible, debido a que varias combinaciones de los parámetros producen soluciones igualmente óptimas.
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- 2013
24. WATER QUALITY INDEX BASED ON FUZZY LOGIC APPLIED TO THE ABURRA RIVER BASIN IN THE JURISDICTION OF THE METROPOLITAN AREA
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JUAN D. GONZÁLEZ H, LUIS F. CARVAJAL S, and FRANCISCO M. TORO B
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Technology ,Mining engineering. Metallurgy ,TN1-997 - Abstract
Las incertidumbres, las subjetividades y los grandes retos ingenieriles en los problemas ambientales se trabajan cada vez más con el uso de métodos de cálculo basados en la Inteligencia Artifi cial (IA), incluyendo herramientas computarizadas que permiten usar razonamientos aproximados con información incompleta e inexacta y con el apoyo de expertos. Con el fi n de evaluar la aplicabilidad de esta herramienta, este estudio propone la aplicación de un Índice de Calidad del Agua, basado en la Lógica Difusa denominado "Índice de Calidad de Agua Difuso" (FQWI), en el río Aburrá. EL FQWI se comparó con el Índice de Calidad de Agua NSF (NSFWQI y con el Índice de Calidad de Agua elaborado para el proyecto "Red Río Fase I" (ARWQI) ) para la autoridad ambiental del Área Metropolitana de Medellín. Este nuevo índice (FQWI) presentó resultados y correlaciones razonables, con relación a los otros índices propuestos. Finalmente, se espera que este nuevo índice FQWI pueda ser utilizado para la toma de decisiones en la gestión hídrica del río Aburrá.
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- 2012
25. Aneurismas de la arteria pulmonar. Reporte de un caso y revisión de la literatura
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Rosalba Vivas, MD, Luis F. Carvajal, MD, Juan F. Gómez, MD, Mónica Guzmán, MD, Luis H. Díaz, MD, Rafael Lince, MD, Miguel Ruz, MD, and Juan R. Donado, MD
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aneurisma de la arteria pulmonar ,aneurisma micótico ,terapia endovascular ,Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Abstract
Los aneurismas de la arteria pulmonar son poco frecuentes en niños. Entre sus principales causas se encuentran procesos infecciosos como la endocarditis, que favorece el desarrollo de aneurismas micóticos, en especial en pacientes con defectos cardíacos congénitos y en aquellos con adicción a drogas de uso endovenoso (sobre todo en adultos), y lleva al desarrollo de aneurismas micóticos. Las opciones de tratamiento dependen de las características de la lesión y de la condición clínica del paciente. Se presenta el caso de una paciente de siete años, quien fue referida para evaluación por endocarditis infecciosa de la válvula tricúspide debida a Staphylococcus aureus. Desarrolló aneurismas bilaterales en ramas lobulares de la arteria pulmonar secundarios a la infección valvular. El aneurisma del lado derecho era de gran tamaño y con alto riesgo de ruptura, razón de peso para que se le efectuara embolización con coils. El procedimiento fue exitoso y no se documentaron complicaciones. La lesión del lado izquierdo se trató de forma expectante teniendo en cuenta que era de menor tamaño. En la actualidad la paciente está en seguimiento ambulatorio con el fin de vigilar la evolución del aneurisma del lado izquierdo.
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- 2011
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26. Malformación aneurismática de la vena de Galeno: Reporte de un caso Vein of Galen aneurysmal malformation: a case report
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Luis F Carvajal, Horacio Gómez, Juan F Gómez, and Miguel A Ruz
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malformación de la vena de Galeno ,terapia endovascular ,hidrocefalia ,secuelas ,malformation of the vein of Galen ,endovascular therapy ,hydrocephalus ,sequelae ,Diseases of the circulatory (Cardiovascular) system ,RC666-701 - Abstract
Las malformaciones aneurismáticas de la vena de Galeno representan aproximadamente un tercio de todas las malformaciones vasculares intracraneales en la edad pediátrica; sin embargo, existe poca referencia en el medio. Los pacientes con este tipo de malformación presentaban altas tasas de morbimortalidad hasta la década de los noventa; desde entonces el desarrollo en las técnicas de diagnóstico prenatal y de terapia endovascular han permitido modificar el pronóstico de esta población. Se describe el caso de un paciente en quien se hizo diagnóstico prenatal, se realizó tratamiento con terapia endovascular a los cuatro meses de vida, y se obtuvieron buenos resultados. Se hace enfásis en el diagnóstico temprano y en la prevención de secuelas a través de una intervención oportuna.Aneurysmal malformations of the vein of Galen represent approximately one third of all intracranial vascular malformations in children. However, in our country we have few references. Patients with this type of malformation had high morbi-mortality rates until the early nineties; since then, the development of techniques of prenatal diagnosis and endovascular therapy have allowed to modify the prognosis of these patients. We describe the case of a patient in whom prenatal diagnosis of aneurysmal malformation of the vein of Galen was made, and was managed at four months of age with endovascular therapy with good results. We emphasize on early diagnosis and prevention of sequelae through appropriate intervention.
- Published
- 2011
27. Predicción no lineal de caudales utilizando variables macroclimáticas y análisis espectral singular
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Julián David Rojo Hernández and Luis Fernando Carvajal Serna
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análisis espectral singular (aes), modelación de series de tiempo, predicción no lineal de caudales, predicción con variables exógenas ,Hydraulic engineering ,TC1-978 ,Water supply for domestic and industrial purposes ,TD201-500 - Abstract
La estrecha relación no lineal entre la hidrología colombiana y los procesos climáticos globales justifican el estudio de modelos no lineales de predicción. Este estudio presenta la dinámica no lineal de los caudales de los ríos de Colombia, utilizando un modelo periódico de predicción basado en el Análisis Espectral Singular (AES). El modelo periódico fue desarrollado y aplicado para ventanas de predicción de tres y seis meses. Se hacen comparaciones para los casos univariado y multivariado; este último incluye variables macroclimáticas. El modelo propuesto se estudia a través del análisis de componentes principales, la estructura de correlación con variables macroclimáticas y parámetros de reconstrucción de las series. Los esquemas desarrollados con base en el AES se aplican a las series de caudales mensuales de los ríos San Carlos, Río Grande II, Guatapé, Magdalena, Guavio y Batá. Los resultados indican que los modelos propuestos reproducen aceptablemente las principales características estadísticas de las series de caudales, obteniéndose predicciones cercanas a las observaciones históricas; además, la inclusión de variables macroclimáticas en el esquema multivariado mejora de forma significativa la capacidad de predicción.
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- 2010
28. Síndrome de Peutz - Jeghers: Seguimiento de una familia Syndrome of Peutz - Jeghers: Follow to family
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María Helena Gaitán Buitrago, Alejandro Vélez Hoyos, Luis G Carvajal-Carmona, José Ignacio Restrepo R, Hernán Restrepo, Mario Hernán Ruiz Vélez, Fabián Juliao Baños, and Rodrigo Castaño Llano
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síndrome de Peutz-Jeghers ,cáncer colorrectal ,pólipos del cólon ,poliposis familiar del colon ,Peutz-Jeghers syndrome ,colorectal ,neoplasms ,colonic polyps ,familial polyposis coli ,Surgery ,RD1-811 - Abstract
El síndrome Peutz - Jeghers es una enfermedad con pólipos del colon con un patrón autosómico dominante, su tipo histológico es hamartomatoso y aunque es muy rara la transformación maligna, se ha postulado una secuencia hamartoma - carcinoma. Este artículo describe el seguimiento de un caso índice y su familia.Peutz - Jeghers syndrome is a polyposis syndrome that appears to be inherited as an autosomal dominant gene; the polyps are hamartomatous, and although malignant transformation is rare, a hamartoma-carcinoma sequence has been postulated. This article describes an index case and his family follow up.
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- 2007
29. Calibracion del modelo lluvia-escorrentia agregado gr4j aplicación: Cuenca del río aburrá
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LUIS_FERNANDO CARVAJAL and ERNESTO ROLDÁN
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Technology ,Mining engineering. Metallurgy ,TN1-997 - Abstract
El presente trabajo muestra la calibración del modelo lluvia-escorrentía GR4J en 8 subcuencas de la cuenca del río Aburrá. Este modelo es considerado parsimonioso ya que solo tiene 4 parámetros. La calibración incluye la optimización de los parámetros. La calidad del ajuste se verificó comparando la serie simulada de caudales y el respectivo registro, las curvas de duración de caudales, así como mediante 4 criterios de eficiencia. Los resultados muestran en general ajustes aceptable, si se tiene en cuenta la variabilidad del área de las subcuencas, de la precipitación y de la evaporación, y el efecto de la zona urbana en cuanto al aporte de caudales de aguas residuales.
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- 2007
30. Ecological Determinants of Forest to the Abundance of Lutzomyia longiflocosa in Tello, Colombia
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Ruthber Rodríguez Serrezuela and Luis Alexander Carvajal Pinilla
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Ecology ,QH540-549.5 ,General. Including nature conservation, geographical distribution ,QH1-199.5 - Abstract
Lutzomyia longiflocosa is considered the most likely vector of cutaneous leishmaniasis in the sub-Andean region of the upper valley of the Magdalena River between 1,000 and 2,000 meters in the Department of Huila, Colombia. L. longiflocosa is anthropophilic, has endophagic behavior, and is especially important since its dominance in epidemics recorded in the last decade in the departments of Huila, Tolima, and the outbreak in Norte de Santander. The aim of our work is to identify ecological determinants in forest microhabitat level defining the abundance of L. longiflocosa. We use sampling; this was performed in 56 microhabitats of 28 forests with CDC traps for two consecutive nights from 18:00 to 06:00 hours. Each microhabitat (favorable and unfavorable) was located 10 m from the ecotone, with an approximate area of 10 m2. Thirty-five variables were examined as potential explanatory variables which were recorded in each microhabitat. Regression models were used to identify ecological determinants. Our results confirm that there are favorable microhabitats in the forest with specific ecological determinants that define the aggregated distribution of the species and provide the conditions necessary for survival and abundance of L. longiflocosa.
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- 2015
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31. Curvas Intensidad-Duración-Frecuencia no estacionarias para la cuenca del río Medellín
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Daniela Grajales-Cardona and Luis Fernando Carvajal-Serna
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no-estacionario ,lcsh:TN1-997 ,020209 energy ,test de Mann Kendall ,0211 other engineering and technologies ,Drainage basin ,Climate change ,L-momentos ,02 engineering and technology ,lcsh:Technology ,precipitación ,021105 building & construction ,0202 electrical engineering, electronic engineering, information engineering ,variabilidad climática ,Precipitation ,Extreme value theory ,lcsh:Mining engineering. Metallurgy ,geography ,geography.geographical_feature_category ,curvas IDF ,lcsh:T ,General Engineering ,Extreme events ,Gumbel ,Climatology ,cambio climático ,Environmental science - Abstract
Las curvas Intensidad-Duración-Frecuencia (IDF) actuales suponen que la precipitación no varía significativamente con el tiempo, subestimando así sus eventos extremos, lo que aumenta el riesgo de inundaciones y de daños en la infraestructura, es por esto que se deben estudiar metodologías que permitan su estimación en condición de cambio climático, es decir, con un enfoque no estacionario, tal como en este estudio, en el que se estimaron curvas IDF estacionarias y no estacionarias para 9 estaciones pluviográficas dispuestas sobre la cuenca del río Medellín. Para ajustar las series de tiempo de precipitación se hizo uso de la distribución de valores extremos EV1, sus parámetros estacionarios fueron calculados por medio del método de los L-momentos y los no estacionarios por el de ventanas móviles. Se evidencia el efecto del cambio climático en intensidades altas y duraciones pequeñas, obteniéndose que el enfoque estacionario puede subestimar los eventos extremos hasta en un 39%.
- Published
- 2019
32. Viscosity Measurement Sensor: A Prototype for a Novel Medical Diagnostic Method Based on Quartz Crystal Resonator
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Michael Zeinoun, Andrés Miranda-Martínez, José Javier Serrano-Olmedo, Luis Armando Carvajal-Ahumada, and Marco Xavier Rivera-González
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Work (thermodynamics) ,Materials science ,Acoustics ,Measure (physics) ,lcsh:Chemical technology ,quartz crystal resonator ,Biochemistry ,Sweep frequency response analysis ,Article ,cerebrospinal fluid ,Analytical Chemistry ,Crystal ,Resonator ,Viscosity ,synovial fluid ,Calibration ,Humans ,lcsh:TP1-1185 ,Point (geometry) ,Electrical and Electronic Engineering ,Instrumentation ,fungi ,food and beverages ,diagnostic sensor ,Quartz ,Atomic and Molecular Physics, and Optics ,viscosity - Abstract
Viscosity variation in human fluids, such as Synovial Fluid (SF) or Cerebrospinal Fluid (CSF), can be used as a diagnostic factor, however, the sample volume obtained for analysis is usually small, making it difficult to measure its viscosity. On the other hand, Quartz Crystal Resonators (QCR) have been used widely in sensing applications due to their accuracy, cost, and size. This work provides the design and validation of a new viscosity measurement system based on quartz crystal resonators for low volume fluids, leading to the development of a sensor called “ViSQCT” as a prototype for a new medical diagnostic tool. The proposed method is based on measuring the resonance frequency at the crystal’s maximum conductance point through a frequency sweep, where crystals with 10 MHz fundamental resonance frequency were used. For validation purposes, artificial fluids were developed to simulate SFs and CFs in healthy and pathological conditions as experiment phantoms. A commercial QCR based system was also used for validation since its methodology differs from ours. A conventional rotational viscometer was used as a reference for calibration purposes. ViSQCT demonstrates the capability to measure the sample’s viscosity differentiation between healthy and pathological fluid phantoms and shows that it can be used as a basis for a diagnostic method of several pathologies related to the studied biological fluids. However, some performance differences between both QCR-based systems compared to the reference system deserves further investigation.
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- 2021
33. MDMX acts as a pervasive preleukemic-to-acute myeloid leukemia transition mechanism
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Boris Bartholdy, Jacqueline Boultwood, Guillermina Lozano, Yinghui Song, Emily Schwenger, Kith Pradhan, Shunbin Xiong, Rajni Kumari, Ulrich Steidl, Daqian Sun, Swathi Rao Narayanagari, Amit Verma, Hiroki Goto, Koki Ueda, Cristina Montagna, Andrea Pellagatti, Jidong Shan, Tihomira I. Todorova, Samuel J. Taylor, Oliver Bohorquez, Jiahao Chen, Justin C. Wheat, and Luis A. Carvajal
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0301 basic medicine ,Proteomics ,Cancer Research ,MDMX ,medicine.medical_treatment ,Cell Cycle Proteins ,Biology ,Article ,Targeted therapy ,Transcriptome ,03 medical and health sciences ,Mice ,0302 clinical medicine ,Cell Line, Tumor ,Proto-Oncogene Proteins ,medicine ,Animals ,Humans ,Wnt Signaling Pathway ,beta Catenin ,Myelodysplastic syndromes ,Wnt signaling pathway ,Myeloid leukemia ,Cancer ,medicine.disease ,Leukemia, Myeloid, Acute ,030104 developmental biology ,Oncology ,030220 oncology & carcinogenesis ,Myelodysplastic Syndromes ,Cancer research ,Stem cell - Abstract
MDMX is overexpressed in the vast majority of patients with acute myeloid leukemia (AML). We report that MDMX overexpression increases preleukemic stem cell (pre-LSC) number and competitive advantage. Utilizing five newly generated murine models, we found that MDMX overexpression triggers progression of multiple chronic/asymptomatic preleukemic conditions to overt AML. Transcriptomic and proteomic studies revealed that MDMX overexpression exerts this function, unexpectedly, through activation of Wnt/β-Catenin signaling in pre-LSCs. Mechanistically, MDMX binds CK1α and leads to accumulation of β-Catenin in a p53-independent manner. Wnt/β-Catenin inhibitors reverse MDMX-induced pre-LSC properties, and synergize with MDMX-p53 inhibitors. Wnt/β-Catenin signaling correlates with MDMX expression in patients with preleukemic myelodysplastic syndromes and is associated with increased risk of progression to AML. Our work identifies MDMX overexpression as a pervasive preleukemic-to-AML transition mechanism in different genetically driven disease subtypes, and reveals Wnt/β-Catenin as a non-canonical MDMX-driven pathway with therapeutic potential for progression prevention and cancer interception.
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- 2021
34. Evaluation of Hyaluronic Acid Dilutions at Different Concentrations Using a Quartz Crystal Resonator (QCR) for the Potential Diagnosis of Arthritic Diseases
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Luis Armando Carvajal Ahumada, Marco Xavier Rivera González, Oscar Leonardo Herrera Sandoval, and José Javier Serrano Olmedo
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viscosity ,non-Newtonian fluid ,synovial fluid ,QCR ,arthritic disease ,Chemical technology ,TP1-1185 - Abstract
The main objective of this article is to demonstrate through experimental means the capacity of the quartz crystal resonator (QCR) to characterize biological samples of aqueous dilutions of hyaluronic acid according to their viscosity and how this capacity may be useful in the potential diagnosis of arthritic diseases. The synovial fluid is viscous due to the presence of hyaluronic acid, synthesized by synovial lining cells (type B), and secreted into the synovial fluid thus making the fluid viscous. In consequence, aqueous dilutions of hyaluronic acid may be used as samples to emulate the synovial fluid. Due to the viscoelastic and pseudo-plastic behavior of hyaluronic acid, it is necessary to use the Rouse model in order to obtain viscosity values comparable with viscometer measures. A Fungilab viscometer (rheometer) was used to obtain reference measures of the viscosity in each sample in order to compare them with the QCR prototype measures.
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- 2016
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35. IL1RAP potentiates multiple oncogenic signaling pathways in AML
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Kelly Mitchell, Tihomira I. Todorova, Laura Barreyro, Joana Leite, Iléana Antony-Debré, Ioannis Mantzaris, Amit Verma, Samuel J. Taylor, Elisabeth Paietta, Gopichand Pendurti, Swathi Rao Narayanagari, Ulrich Steidl, Luis A. Carvajal, Zubair Piperdi, and Kira Gritsman
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0301 basic medicine ,Adult ,Male ,Myeloid ,Carcinogenesis ,Immunology ,Down-Regulation ,Apoptosis ,Models, Biological ,Receptor tyrosine kinase ,Article ,Antibodies ,03 medical and health sciences ,Mice ,RNA interference ,hemic and lymphatic diseases ,Cell Line, Tumor ,medicine ,Immunology and Allergy ,Animals ,Humans ,Receptor ,neoplasms ,Research Articles ,Aged ,Cell Proliferation ,Stem Cell Factor ,biology ,Myeloid leukemia ,Membrane Proteins ,Cell Differentiation ,Middle Aged ,3. Good health ,Hematopoiesis ,Haematopoiesis ,Leukemia, Myeloid, Acute ,Proto-Oncogene Proteins c-kit ,030104 developmental biology ,medicine.anatomical_structure ,biology.protein ,Cancer research ,Female ,Signal transduction ,Stem cell ,Interleukin-1 Receptor Accessory Protein ,Gene Deletion ,Protein Binding ,Signal Transduction - Abstract
IL1RAP is an emerging target for AML therapy. Studying its cell-intrinsic function revealed that IL1RAP interacts with and amplifies signaling through c-KIT and FLT3 in AML cells. This novel promiscuous role of IL1RAP in AML has implications for therapeutic targeting., The surface molecule interleukin-1 receptor accessory protein (IL1RAP) is consistently overexpressed across multiple genetic subtypes of acute myeloid leukemia (AML) and other myeloid malignancies, including at the stem cell level, and is emerging as a novel therapeutic target. However, the cell-intrinsic functions of IL1RAP in AML cells are largely unknown. Here, we show that targeting of IL1RAP via RNA interference, genetic deletion, or antibodies inhibits AML pathogenesis in vitro and in vivo, without perturbing healthy hematopoietic function or viability. Furthermore, we found that the role of IL1RAP is not restricted to the IL-1 receptor pathway, but that IL1RAP physically interacts with and mediates signaling and pro-proliferative effects through FLT3 and c-KIT, two receptor tyrosine kinases with known key roles in AML pathogenesis. Our study provides a new mechanistic basis for the efficacy of IL1RAP targeting in AML and reveals a novel role for this protein in the pathogenesis of the disease., Graphical Abstract
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- 2018
36. Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer.
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Ian P M Tomlinson, Luis G Carvajal-Carmona, Sara E Dobbins, Albert Tenesa, Angela M Jones, Kimberley Howarth, Claire Palles, Peter Broderick, Emma E M Jaeger, Susan Farrington, Annabelle Lewis, James G D Prendergast, Alan M Pittman, Evropi Theodoratou, Bianca Olver, Marion Walker, Steven Penegar, Ella Barclay, Nicola Whiffin, Lynn Martin, Stephane Ballereau, Amy Lloyd, Maggie Gorman, Steven Lubbe, COGENT Consortium, CORGI Collaborators, EPICOLON Consortium, Bryan Howie, Jonathan Marchini, Clara Ruiz-Ponte, Ceres Fernandez-Rozadilla, Antoni Castells, Angel Carracedo, Sergi Castellvi-Bel, David Duggan, David Conti, Jean-Baptiste Cazier, Harry Campbell, Oliver Sieber, Lara Lipton, Peter Gibbs, Nicholas G Martin, Grant W Montgomery, Joanne Young, Paul N Baird, Steven Gallinger, Polly Newcomb, John Hopper, Mark A Jenkins, Lauri A Aaltonen, David J Kerr, Jeremy Cheadle, Paul Pharoah, Graham Casey, Richard S Houlston, and Malcolm G Dunlop
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Genetics ,QH426-470 - Abstract
Genome-wide association studies (GWAS) have identified 14 tagging single nucleotide polymorphisms (tagSNPs) that are associated with the risk of colorectal cancer (CRC), and several of these tagSNPs are near bone morphogenetic protein (BMP) pathway loci. The penalty of multiple testing implicit in GWAS increases the attraction of complementary approaches for disease gene discovery, including candidate gene- or pathway-based analyses. The strongest candidate loci for additional predisposition SNPs are arguably those already known both to have functional relevance and to be involved in disease risk. To investigate this proposition, we searched for novel CRC susceptibility variants close to the BMP pathway genes GREM1 (15q13.3), BMP4 (14q22.2), and BMP2 (20p12.3) using sample sets totalling 24,910 CRC cases and 26,275 controls. We identified new, independent CRC predisposition SNPs close to BMP4 (rs1957636, P = 3.93×10(-10)) and BMP2 (rs4813802, P = 4.65×10(-11)). Near GREM1, we found using fine-mapping that the previously-identified association between tagSNP rs4779584 and CRC actually resulted from two independent signals represented by rs16969681 (P = 5.33×10(-8)) and rs11632715 (P = 2.30×10(-10)). As low-penetrance predisposition variants become harder to identify-owing to small effect sizes and/or low risk allele frequencies-approaches based on informed candidate gene selection may become increasingly attractive. Our data emphasise that genetic fine-mapping studies can deconvolute associations that have arisen owing to independent correlation of a tagSNP with more than one functional SNP, thus explaining some of the apparently missing heritability of common diseases.
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- 2011
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37. BRCA1 and BRCA2 founder mutations account for 78% of germline carriers among hereditary breast cancer families in Chile
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Luis G. Carvajal-Carmona, Adolfo Cruz, Luis Matamala, Catalina Ruiz, Claudio Missarelli, Pilar Carvallo, Carolina Alvarez, Mauricio Camus, Patricia Gajardo-Meneses, Mabel Rios, Teresa Tapia, Elisa Pérez-Moreno, and Mariela Silva
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0301 basic medicine ,Latin Americans ,endocrine system diseases ,Population ,Oncology and Carcinogenesis ,Germline ,03 medical and health sciences ,0302 clinical medicine ,Breast cancer ,breast cancer ,medicine ,Genetics ,2.1 Biological and endogenous factors ,Aetiology ,Chile ,education ,skin and connective tissue diseases ,Cancer ,education.field_of_study ,Haplotype ,BRCA mutation ,medicine.disease ,BRCA1 ,BRCA2 ,030104 developmental biology ,Geography ,Oncology ,030220 oncology & carcinogenesis ,founder mutation ,Hereditary Breast Cancer ,Demography ,Founder effect ,Research Paper - Abstract
// Carolina Alvarez 1, * , Teresa Tapia 1, * , Elisa Perez-Moreno 1 , Patricia Gajardo-Meneses 1 , Catalina Ruiz 2 , Mabel Rios 3 , Claudio Missarelli 3 , Mariela Silva 3 , Adolfo Cruz 4 , Luis Matamala 5 , Luis Carvajal-Carmona 6 , Mauricio Camus 2 and Pilar Carvallo 1 1 Department of Cell and Molecular Biology, Faculty of Biological Sciences, Pontificia Universidad Catolica de Chile, Santiago, Chile 2 Centro de Cancer, Faculty of Medicine, Pontificia Universidad Catolica de Chile, Santiago, Chile 3 Unidad de Patologia Mamaria, Hospital Base de Valdivia, Valdivia, Chile 4 Unidad de Patologia Mamaria, Hospital Barros Luco Trudeau, Santiago, Chile 5 Unidad de Patologia Mamaria, Hospital Regional de Antofagasta, Antofagasta, Chile 6 Genome Center and Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis, California, USA * These authors contributed equally to this work Correspondence to: Pilar Carvallo, email: pcarvallo@bio.puc.cl Keywords: BRCA1, BRCA2, founder mutation, breast cancer, Chile Received: April 28, 2017 Accepted: June 12, 2017 Published: June 29, 2017 ABSTRACT Identifying founder mutations in BRCA1 and BRCA2 in specific populations constitute a valuable opportunity for genetic screening. Several studies from different populations have reported recurrent and/or founder mutations representing a relevant proportion of BRCA mutation carriers. In Latin America, only few founder mutations have been described. We screened 453 Chilean patients with hereditary breast cancer for mutations in BRCA1 and BRCA2 . For recurrent mutations, we genotyped 11 microsatellite markers in BRCA1 and BRCA2 in order to determine a founder effect through haplotype analysis. We found a total of 25 mutations (6 novel) in 71 index patients among which, nine are present exclusively in Chilean patients. Our analysis revealed the presence of nine founder mutations, 4 in BRCA1 and 5 in BRCA2 , shared by 2 to 10 unrelated families and spread in different regions of Chile. Our panel contains the highest amount of founder mutations until today and represents the highest percentage (78%) of BRCA1 and BRCA2 mutation carriers. We suggest that the dramatic reduction of Amerindian population due to smallpox and wars with Spanish conquerors, a scarce population increase during 300 years, and the geographic position of Chile constituted a favorable scenario to establish founder genetic markers in our population.
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- 2017
38. Diversidad genética y relaciones filogenéticas del ganado criollo colombiano
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Fernando Moreno, James Derr, Nelson Bermúdez, Jorge Ossa, Luzardo Estrada, Davis Scott, Gabriel Bedoya, Luis Guillermo Carvajal, Fabio Zuluaga, Jesús Berdugo, José Barrera, and Andrés Ruíz Linares
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Diversidad genética ,Relaciones filogenéticas ,Ganado criollo colombiano ,Genética de poblaciones ,Marcadores genéticos ,Microsatélites ,Agriculture ,Agriculture (General) ,S1-972 ,Animal culture ,SF1-1100 - Abstract
La caracterización genética del ganado criollo colombiano (gcc) ha demostrado el valor de estas razas en los sistemas productivos tropicales, lo que ha despertado el interés para desarrollar programas de conservación y multiplicación. Se adelantó un estudio de análisis genético con las siete razas de ganado criollo colombiano, (rgcc): Blanco Orejinegro (BON), Romosinuano (R), Costeño Con Cuernos (CCC), Sanmartinero (SM), Chino Santandereano (Ch), Hartón del Valle (H) y Casanareño (Ca), utilizando el Cebú (C) como control, con el objeto de evaluar su diversidad genética y relaciones filogenéticas. Se usaron 7 microsatélites (STR) para establecer las distancias genéticas amplificadas mediante PCR. El tamaño de los loci se definió mediante marcaje con ɣ32 P seguido de un pase en geles de poliacrilamida (PAGE) o marcados con fluorescencia y electroforesis capilar. Los datos se analizaron usando los programas Genepop, GDA y Phylip. El número promedio de alelos por locus fue de 8,9 y Ia heterocigosidad promedia observada fue de o,52. El árbol filogenético construido con el programa Phylip, empleando la distancia de Nei y el algoritmo de Neighbour-joining, agrupó en dos las gcc. En el grupo uno las razas: BON, SM, R, CCC y H; y en el grupo dos las razas: Ch, Ca y C. Los resultados de evaluación filogenética de las gcc indicaron que existe diversidad genética adecuada en estas razas para programas de mejoramiento genético; sin embargo, se recomienda continuar el estudio con un mayor número de marcadores genéticos.
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- 2001
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39. Identification of Novel Common Breast Cancer Risk Variants in Latinas at the 6q25 Locus
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Gabriela Torres-Mejía, Olufunmilayo I. Olopade, Luis G. Carvajal-Carmona, Scott Hunstman, Esteban G. Burchard, Joshua D. Hoffman, Min Li, Elad Ziv, Donglei Hu, Wei Zheng, Susan L. Neuhausen, Esther M. John, Jiring Long, Christopher A. Haiman, Yuan Chun Ding, Jeffrey N. Weitzel, Lawrence H. Kushi, Dezheng Huo, Paul Lott, Magdalena Echeverry, Celeste Eng, and Laura Fejerman
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Genetics ,0303 health sciences ,Linkage disequilibrium ,Locus (genetics) ,Genome-wide association study ,Single-nucleotide polymorphism ,Odds ratio ,Ancestry-informative marker ,Biology ,medicine.disease ,3. Good health ,Minor allele frequency ,03 medical and health sciences ,0302 clinical medicine ,Breast cancer ,030220 oncology & carcinogenesis ,medicine ,030304 developmental biology - Abstract
Background: Breast cancer is a partially heritable trait and over 180 common genetic variants have been associated with breast cancer in genome wide association studies (GWAS). We have previously performed breast cancer GWAS in Latinas and identified a strongly protective single nucleotide polymorphism (SNP) at 6q25 with the protective minor allele originating from Indigenous American ancestry. Here we report on additional GWAS and replication in Latinas.Methods: We performed GWAS in 2385 cases and 7342 controls who were either U.S. Latinas or Mexican women. We replicated 2412 cases and 1620 controls of U.S Latina, Mexican, and Colombian women. In addition, we replicated the top novel variants in study of African American and African women and in one study of Chinese women. In each dataset we used logistic regression models to test the association between SNPs and breast cancer risk and corrected for genetic ancestry using either principal components or genetic ancestry inferred from ancestry informative markers using a model based approach.Results: We identified 3 SNPs (p=1.9×10-8 - 2.8×10-8) at 6q25 locus not in linkage disequilibrium (LD) with variants previously reported at this locus. These SNPs were in high LD with each other, with the top SNP, rs3778609, associated with breast cancer with an odds ratio (OR) and 95% confidence interval (95% CI) of 0.75 (0.68-0.83). In a replication in women of Latin American origin, we also observed a consistent effect (OR: 0.88; 95% CI: 0.78-0.99; p=0.037). Since the minor allele was common in East Asians and African American but not European ancestry populations, we replicated in a meta-analysis of those populations and also observed a consistent effect (OR 0.94; 95% CI: 0.91 – 0.97; p=0.013).Conclusion: The effect size of this variant is relatively large compared to other common variants associated with breast cancer and adds to evidence about the importance of the 6q25 locus for breast cancer susceptibility. Our finding also highlights the utility of performing additional searches for genetic variants for breast cancer in non-European populations.
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- 2018
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40. Simulación de un lavado hidráulico en tuberías para el control del crecimiento de biopelicula
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LUIS_ F. CARVAJAL, ALEJANDRA GÓMEZ, and SANTIAGO OCHOA
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Technology ,Mining engineering. Metallurgy ,TN1-997 - Abstract
Este artículo presenta un problema actual y de gran importancia en los sistemas de acueducto, el cual es la biopelícula que se desarrolla al interior de las paredes de las tuberías y que puede presentar problemas en la calidad del agua y predisposición de los usuarios respecto al servicio público que se presta. Se presenta una revisión de los mecanismos físicos que la generan y el control de la biopelícula en tuberías mediante el Lavado Hidráulico. En este caso se hace una simulación hidráulica aplicada a una red que permite conocer si se tienen zonas propensas a la formación de la biopelícula, considerando parámetros de velocidad de flujo y tiempo de permanencia de la zona en condiciones críticas. Se puede estimar si las presiones y velocidades obtenidas están en el rango aceptado por el ente regulador del servicio. Además, se pueden definir criterios de simulación y operación en una red para el control de la biopelícula.
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- 2007
41. Población de macrofauna en sistemas silvopastoriles dedicados a la producción lechera:análisis preliminar
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Jessica Paola Ortega Hernández, Diego Marcelo Caicedo Rosero, Luis Alfredo Carvajal Pérez, and Hernán Rigoberto Benavides Rosales
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Carchi ,lcsh:S ,biota ,Ecuador ,comparación ,comparison ,lcsh:S1-972 ,General Biochemistry, Genetics and Molecular Biology ,índices de biodiversidad ,lcsh:Agriculture ,Biota ,General Earth and Planetary Sciences ,lcsh:Agriculture (General) ,General Agricultural and Biological Sciences ,lcsh:Science (General) ,biodiversity index ,General Environmental Science ,lcsh:Q1-390 - Abstract
espanolEn esta investigacion se presenta un estudio de la macrofauna en suelos silvopastoriles dedicados a la produccion de leche, cuyo objetivo fue analizar las poblaciones de biota del suelo en sistemas de tratamiento silvopastoriles con las especies: aliso (Alnus acuminata), acacia (Acacia melanoxylon), y una mezcla forrajera. Los tratamientos estan conformados en tres secciones: aliso y pasto; acacia y pasto, y el testigo solo pasto. En una primera etapa se realizaron 30 muestras en cada tratamiento, en los meses de baja precipitacion, cada muestra es un cuadrante de 30 cm. x 30 cm. X 30 cm., en el cual se contabilizo la biota existente. Los datos de las poblaciones se analizaron usando los indices de biodiversidad como riqueza de Margalef, indice de dominancia de Berger – Parker, el indice de dominancia de Simpson y el indice de biodiversidad de Shannon, datos que permitieron concluir que la variacion en numero de especies no es significativa entre tratamientos y la existencia de biota mantiene la productividad. Ademas, estos datos serviran en una segunda investigacion para hacer comparaciones del numero de especies en meses de mayor y menor precipitacion. EnglishThis research shows a preliminary study of macrofauna in silvopastoral soils for milk production, whose objective was to evaluate the soil’s population biota in silvopastoral systems whit next combinations: aliso (Alnus acuminata) and fodder mixture, acacia (Acacia melanoxylon) and fodder mixture, and control only fodder mixture. In first stage, 30 samples were collected in each population sample, in months with less precipitation, each sample, is one square of 30 cm×30 cm×30 cm, in which counted the existing biota. Population data was analyzed using biodiversity index like Margalef index of species richness, Berger Parker index of dominance, Simpson’s dominance index and Shannon diversity index, data which permitted conclude the variation in species number is not significant in population samples and existing biota maintains the productivity. Also, those values will use in a second research to make statistical comparisons in the number of species in months with more and less precipitation.
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- 2017
42. HYDROCARBON PROSPECTIVITY OF THE NICARAGUAN RISE AND COLOMBIA BASIN, WESTERN CARIBBEAN SEA
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Arenas, Luis Carlos Carvajal
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- 2017
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43. Clinical manifestations of colorectal cancer patients from a large multicenter study in Colombia
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Jorge Mario Castro, María Carolina Sanabria-Salas, Magdalena Echeverry, Luis G. Carvajal-Carmona, Mabel Bohorquez, Ángela Milena Martín Ríos, José Ignacio Restrepo, Juan Dario Puerta, Juan Ricardo Márquez, Rodrigo Prieto, Fernando Bolaños, Alejandro Vélez, César Panqueva, Ian Tomlinson, Raul Murillo, Gustavo Hernández, Gilbert Mateus, María Mercedes Bravo, Ruta Sahasrabudhe, and Angel Criollo
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0301 basic medicine ,Male ,Overweight ,Body Mass Index ,0302 clinical medicine ,Epidemiology ,Family history ,Young adult ,Age of Onset ,Cancer ,2. Zero hunger ,Incidence (epidemiology) ,Incidence ,Smoking ,Age Factors ,General Medicine ,Middle Aged ,3. Good health ,Colo-Rectal Cancer ,030220 oncology & carcinogenesis ,Female ,medicine.symptom ,Colorectal Neoplasms ,Research Article ,Adult ,medicine.medical_specialty ,Alcohol Drinking ,Hispanic population ,Clinical Sciences ,Observational Study ,colorectal cancer ,Adenocarcinoma ,Colombia ,colorectal cancer (CRC) ,03 medical and health sciences ,Young Adult ,Sex Factors ,Clinical Research ,Internal medicine ,medicine ,Genetics ,Humans ,Genetic Predisposition to Disease ,Retrospective Studies ,Aged ,Gynecology ,business.industry ,Prevention ,medicine.disease ,Arthritis & Rheumatology ,030104 developmental biology ,Good Health and Well Being ,Age of onset ,business ,Digestive Diseases ,Body mass index ,clinicopathological features - Abstract
Copyright © 2016 the Author(s). Published by Wolters Kluwer Health, Inc. All rights reserved. Colorectal cancer (CRC) is a major public health problem, and its incidence is rising in developing countries. However, studies characterizing CRC clinicopathological features in cases from developing countries are still lacking. The goal of this study was to evaluate clinicopathological and demographic features in one of the largest CRC studies in Latin America. The study involved over 1525 CRC cases recruited in a multicenter study in Colombia between 2005 and 2014 as part of ongoing genetic and epidemiological studies. We gathered clinicopathological data such as age at diagnosis, sex, body mass index, tobacco and alcohol consumption, family history of cancer, and tumor features including location, histological type, and stage. Statistical analyses were performed to test the association between age of onset, sex, and clinical manifestations. The average age at CRC diagnosis was 57.4 years, with 26.5% of cases having early-onset CRC (diagnosed by age 50 years). Most cases were women (53.2%; P=0.009), 49.2% were overweight or obese, 49.1% were regular alcohol drinkers, 52% were smokers/former smokers, and 12.2% reported relatives with cancer. Most tumors in the study were located in the rectum (42.7%), were adenocarcinomas (91.5%), and had advanced stage (T3-T4, 79.8%). Comparisons by sex found that male cases were more likely to be obese (36.5% vs 31.1%; P=0.001), less likely to have a family history of cancer (9.7% vs 15.3%; P=0.016), and more likely to have advanced-stage tumors (83.9% vs 76.1%; P=0.036). Comparisons by age of onset found that early-onset cases were more likely to be women (59.3% vs 51.0%; P=0.005) and report a family history of cancer (17.4% vs 10.2%; P=0.001). To our knowledge, our study is the largest report of clinicopathological characterization of Hispanic CRC cases, and we suggest that further studies are needed to understand CRC etiology in diverse Hispanic populations.
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- 2016
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44. Mutations of the PU.1 Ets domain are specifically associated with murine radiation-induced, but not human therapy-related, acute myeloid leukaemia
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Luis G. Carvajal-Carmona, John Moody, Emmy Meijne, Theo van Laar, Andrew Riches, Kazuko Yoshida, Patrick J. Pollard, Ian Tomlinson, Jude Fitzgibbon, Andrew Silver, Andrew Rowan, René Huiskamp, and Nirosha Suraweera
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Cancer Research ,Myeloid ,Neoplasms, Radiation-Induced ,Blotting, Western ,Molecular Sequence Data ,DNA Footprinting ,Context (language use) ,Biology ,medicine.disease_cause ,Mice ,Proto-Oncogene Proteins ,Genetics ,medicine ,Coding region ,Missense mutation ,Animals ,Humans ,Promoter Regions, Genetic ,Molecular Biology ,Transcription factor ,Mutation ,Base Sequence ,medicine.disease ,Leukemia ,Disease Models, Animal ,Leukemia, Myeloid, Acute ,medicine.anatomical_structure ,Cancer research ,Trans-Activators ,Carcinogenesis ,Transcription Factors - Abstract
Murine radiation-induced acute myeloid leukaemia (AML) is characterized by loss of one copy of chromosome 2. Previously, we positioned the critical haematopoietic-specific transcription factor PU.1 within a minimally deleted region. We now report a high frequency (>65%) of missense mutation at codon 235 in the DNA-binding Ets domain of PU.1 in murine AML. Earlier studies, outside the context of malignancy, determined that conversion of arginine 235 (R235) to any other amino-acid residue leads to ablation of DNA-binding function and loss of expression of downstream targets. We show that mutation of R235 does not lead to protein loss, and occurs specifically in those AMLs showing loss of one copy of PU.1 (P=0.001, Fisher's exact test). PU.1 mutations were not found in the coding region, UTRs or promoter of human therapy-related AMLs. Potentially regulatory elements upstream of PU.1 were located but no mutations found. In conclusion, we have identified the cause of murine radiation-induced AML and have shown that loss of one copy of PU.1, as a consequence of flanking radiation-sensitive fragile domains on chromosome 2, and subsequent R235 conversion are highly specific to this mouse model. Such a mechanism does not operate, or is extremely rare, in human AML.
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- 2016
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45. Much of the genetic risk of colorectal cancer is likely to be mediated through susceptibility to adenomas
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Ian Tomlinson, Jiping Wang, Kimberley Howarth, Angel Lanas, Monica M. Bertagnolli, Luis G. Carvajal Carmona, Timothy H.T. Cheng, Robert H. Riddell, Ann G. Zauber, Angela M. Jones, and Dion Morton
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Oncology ,Adenoma ,Male ,medicine.medical_specialty ,Genotype ,Colorectal cancer ,Population ,Single-nucleotide polymorphism ,Polymorphism, Single Nucleotide ,Article ,03 medical and health sciences ,0302 clinical medicine ,Internal medicine ,Genetic predisposition ,medicine ,Humans ,Genetic Predisposition to Disease ,Allele ,education ,neoplasms ,Alleles ,030304 developmental biology ,0303 health sciences ,education.field_of_study ,Hepatology ,business.industry ,Carcinoma ,Gastroenterology ,Case-control study ,Middle Aged ,medicine.disease ,digestive system diseases ,3. Good health ,030220 oncology & carcinogenesis ,Case-Control Studies ,Female ,business ,Colorectal Neoplasms - Abstract
Several single-nucleotide polymorphisms (SNPs) have been associated with colorectal cancer (CRC) susceptibility. Most CRCs arise from adenomas, and SNPs therefore might affect predisposition to CRC by increasing adenoma risk. We found that 8 of 18 known CRC-associated SNPs (rs10936599, rs6983267, rs10795668, rs3802842, rs4444235, rs1957636, rs4939827, and rs961253) were over-represented in CRC-free patients with adenomas, compared with controls. Ten other CRC-associated SNPs (rs6691170, rs6687758, rs16892766, rs7136702, rs11169552, rs4779584, rs9929218, rs10411210, rs4813802, and rs4925386) were not associated significantly with adenoma risk. Genetic susceptibility to CRC in the general population is likely to be mediated in part by predisposition to adenomas.
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- 2016
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46. TERC polymorphisms are associated both with susceptibility to colorectal cancer and with longer telomeres
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Malcolm G. Dunlop, Andrew D Beggs, Monica M. Bertagnolli, Luis G. Carvajal-Carmona, Harry Campbell, Rachel Midgley, Susan M. Farrington, Shirley Hodgson, Angela M. Jones, Albert Tenesa, Ian Tomlinson, Ann G. Zauber, Marion F Walker, David J. Kerr, Kimberley Howarth, and Stephane Ballereau
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Adenoma ,Male ,Telomerase ,Genotyping Techniques ,Clinical Sciences ,Single-nucleotide polymorphism ,Biology ,Polymorphism, Single Nucleotide ,Polymerase Chain Reaction ,Paediatrics and Reproductive Medicine ,03 medical and health sciences ,Telomerase RNA component ,0302 clinical medicine ,Genetic predisposition ,Leukocytes ,SNP ,Humans ,Telomerase reverse transcriptase ,Genetic Predisposition to Disease ,Allele ,Polymorphism ,neoplasms ,030304 developmental biology ,Retrospective Studies ,Aged ,Genetics ,0303 health sciences ,Gastroenterology & Hepatology ,Carcinoma ,Gastroenterology ,Single Nucleotide ,Telomere ,Middle Aged ,HCT116 Cells ,digestive system diseases ,030220 oncology & carcinogenesis ,Case-Control Studies ,RNA ,Female ,Colorectal Neoplasms - Abstract
BACKGROUND AND AIMS: Shorter telomeres have been associated with increased risk of malignancy, including colorectal cancer (CRC). Telomere length is heritable and may be an intermediate phenotype linked to genetic susceptibility to CRC.METHODS: In a large sample, the study investigated whether candidate single nucleotide polymorphisms (SNP) in 'telomere biology' genes were associated with telomere length in leucocytes. SNP associated with an increased risk of CRC were searched for separately.RESULTS: Carriers of the common allele at SNP rs10936599, near the telomerase RNA component (TERC) locus, had significantly longer telomeres. It was independently found that the same rs10936599 allele was associated with increased risk of both CRC and colorectal adenomas. Neither telomere length nor CRC risk was associated with variation near telomerase reverse transcriptase or other telomere biology genes. In silico analysis showed that SNP rs2293607 was strongly correlated with rs10936599, mapped within TERC transcripts, had a predicted effect on messenger RNA folding and lay at a reported transcription factor binding site. TERC mRNA were expressed, differing only at the alleles of rs2293607, in CRC cell line HCT116. The long-telomere/CRC-risk allele was associated with higher levels of TERC mRNA and the formation of longer telomeres.CONCLUSIONS: Common genetic variation at TERC is associated with both longer telomeres and an increased risk of CRC, a potential mechanism being reduced levels of cell senescence or death. This finding is somewhat paradoxical, given retrospective studies reporting that CRC cases have shorter telomeres than controls. One possibility is that that association actually results from poorer survival in patients with longer telomeres.
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- 2016
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47. Comprehensive assessment of variation at the transforming growth factor beta type 1 receptor locus and colorectal cancer predisposition
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Ian P. M. Tomlinson, Luis G. Carvajal-Carmona, Richard S. Houlston, David J. Kerr, Axel Walther, Malcolm G. Dunlop, Carolina Bonilla, Jérémie H. Lefevre, Mike Churchman, and Walter F. Bodmer
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Linkage disequilibrium ,Candidate gene ,Genotype ,Colorectal cancer ,Molecular Sequence Data ,Locus (genetics) ,Single-nucleotide polymorphism ,Biology ,Polymorphism, Single Nucleotide ,Linkage Disequilibrium ,White People ,Transforming Growth Factor beta1 ,03 medical and health sciences ,0302 clinical medicine ,INDEL Mutation ,medicine ,Genetic predisposition ,Humans ,Genetic Predisposition to Disease ,DNA Primers ,030304 developmental biology ,Genetics ,0303 health sciences ,Multidisciplinary ,Base Sequence ,Haplotype ,Genetic Variation ,Exons ,Sequence Analysis, DNA ,Biological Sciences ,medicine.disease ,digestive system diseases ,3. Good health ,Logistic Models ,030220 oncology & carcinogenesis ,Attributable risk ,Colorectal Neoplasms - Abstract
The role of transforming growth factor β receptor type 1 ( TGFBR1 ) polymorphisms, particularly a coding CGC insertion (rs11466445, TGFBR1*6A/9A ) in exon 1, has been extensively investigated in regard to colorectal cancer (CRC) risk. These investigations have generated conflicting results. More recently, allele-specific expression (ASE) of TGFBR1 mRNA has been suggested as predisposing to CRC, with a relative risk of nearly 10-fold and a population attributable risk of ∼10%. Owing to the potential importance of TGFBR1 variants in CRC, we performed a comprehensive examination of tagging SNPs at and around the gene in 3,101 CRC cases and 3,334 controls of northern European ancestry. To test whether rare or subpolymorphic TGFBR1 variants were associated with CRC risk, we sequenced the gene's exons in a subset of patients. We also evaluated TGFBR1 ASE in a panel of CRC cases and controls. Overall, we found no association between TGFBR1 polymorphisms and CRC risk. The rare variant screen did not identify any changes of potentially pathogenic effects. No evidence of greater ASE in cases than controls was detected, and no haplotype around TGFBR1 could account for the ASE reported in other studies. We conclude that neither genetic variation nor ASE at TGFBR1 is likely to be a major CRC risk factor.
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- 2016
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48. Deciphering the genetics of hereditary non-syndromic colorectal cancer
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Peter Propping, Eamonn R. Maher, Richard S. Houlston, Hans K. Schackert, D. Timothy Bishop, Jean-Baptiste Cazier, Anneke Lucassen, Juul T. Wijnen, Zoe Kemp, Huw Thomas, Gabrielle S. Sellick, Luis G. Carvajal-Carmona, Steven J. Lubbe, Elke Holinski-Feder, Nils Rahner, Maggie Gorman, Ian Tomlinson, Emma Jaeger, Ella Barclay, Verena Steinke, Timm O. Goecke, Peter Broderick, D. Gareth Evans, Kate Sullivan, Tom van Wezel, Jayaram Vijayakrishnan, Emily L. Webb, Eli Papaemmanuil, Sarah L. Spain, and Lynn Martin
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Adenoma ,Candidate gene ,Genetic Linkage ,DNA Mutational Analysis ,Gene Dosage ,Locus (genetics) ,Genome-wide association study ,Single-nucleotide polymorphism ,Biology ,Polymorphism, Single Nucleotide ,Gene mapping ,Genetic linkage ,Genetics ,Humans ,Family ,Genetics (clinical) ,Family Health ,Linkage Disequilibrium Mapping ,Chromosome Mapping ,Case-Control Studies ,Chromosomes, Human, Pair 3 ,Lod Score ,Colorectal Neoplasms ,SNP array ,Genome-Wide Association Study - Abstract
Previously we have localized to chromosome 3q21-q24, a predisposition locus for colorectal cancer (CRC), through a genome-wide linkage screen (GWLS) of 69 families without familial adenomatous polyposis or hereditary non-polyposis CRC. To further investigate Mendelian susceptibility to CRC, we extended our screen to include a further GWLS of an additional 34 CRC families. We also searched for a disease gene at 3q21-q24 by linkage disequilibrium mapping in 620 familial CRC cases and 960 controls by genotyping 1676 tagging SNPs and sequencing 30 candidate genes from the region. Linkage analysis was conducted using the Affymetrix 10K SNP array. Data from both GWLSs were pooled and multipoint linkage statistics computed. The maximum NPL score (3.01; P=0.0013) across all families was at 3q22, maximal evidence for linkage coming from families segregating rectal CRC. The same genomic position also yielded the highest multipoint heterogeneity LOD (HLOD) score under a dominant model (HLOD=2.79; P=0.00034), with an estimated 43% of families linked. In the case-control analysis, the strongest association was obtained at rs698675 (P=0.0029), but this was not significant after adjusting for multiple testing. Analysis of candidate gene mapping to the region of maximal linkage on 3q22 failed to identify a causal mutation. There was no evidence for linkage to the previously reported 9q CRC locus (NPL=0.95, P=0.23; HLOD(dominant)=0.40, HLOD(recessive)=0.20). Our findings are consistent with the hypothesis that variation at 3q22 contributes to the risk of CRC, but this is unlikely to be mediated through a restricted set of alleles.
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- 2016
49. The Hunting of the Snark: Whither Genome-Wide Association Studies for Colorectal Cancer?
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Ian Tomlinson and Luis G. Carvajal Carmona
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0301 basic medicine ,Linkage disequilibrium ,Candidate gene ,Clinical Sciences ,Genome-wide association study ,Single-nucleotide polymorphism ,Biology ,Polymorphism, Single Nucleotide ,Article ,Paediatrics and Reproductive Medicine ,03 medical and health sciences ,Humans ,Genetic Predisposition to Disease ,1000 Genomes Project ,Polymorphism ,Allele frequency ,Genetic association ,Genetics ,Hepatology ,Gastroenterology & Hepatology ,Gastroenterology ,Neurosciences ,Single Nucleotide ,030104 developmental biology ,Expression quantitative trait loci ,Colonic Neoplasms ,Colorectal Neoplasms ,Genome-Wide Association Study - Abstract
EDITORIALS The Hunting of the Snark: Whither Genome-Wide Association Studies for Colorectal Cancer? See “Identification of susceptibility loci and genes for colorectal cancer risk,” by Zeng C, Matsuda K, Jia W-H, et al, on page 1633. I n the Lewis Carroll nonsense poem, The Hunting of the Snark, a curious assembly of characters with a variety of dubious skills sets forth on a poorly defined quest to find the half-real snark. On the way, the pursuers use a number of approaches, and in turns collaborate, fall out with each other and, in at least one case, go mad. The only seeker who claims to find the snark, disappears. Genome-wide association studies (GWAS), based on thousands of cases and controls typed at thousands of single nucleotide polymorphisms (SNPs), have identified several variants that associate with gastrointestinal cancer risk. More than 30 colorectal cancer (CRC) predisposition SNPs are known, together with a smaller number of loci for other gastrointestinal cancers. 1–4 It is indisputable, however, that GWAS for other common cancers—notably for breast and prostate—have been much more successful at finding larger numbers of SNPs. It sometimes feels that we will be writing the phrase, “known genetic variants explain only a small fraction of the heritability of gastrointestinal cancers,” for many years to come. The manuscript by Zeng et al 5 in this issue of Gastro- enterology reports another very useful increase in our CRC genetics knowledge. This study, the largest carried out to date in Asian populations, identified 6 SNPs associated with CRC risk at genome-wide significance (P < 5 10 -8 ), including rs4711689 at 6p21, rs2450115, and rs6469656 at 8q23, rs4919687 at 10q24, rs11064437 at 12p13, and rs6061231 at 20q13. The most likely candidate genes affected by the functional variation at each of the 5 sites were respectively reported to be TFEB (involved in lyso- somal biogenesis), EIF3H (initiation of translation), CYP17A1 (steroid synthesis), SPS2B2 (proteasome), and RPS21 (ribosomal biogenesis). Several of these functions seem to be new in terms of CRC pathogenesis. Although most of these SNPs lie in noncoding regions, one of them (rs11064437) has a potential effect on protein sequence, as it falls within the intron 1 splice acceptor of SPSB2. A consideration of 2 of the loci reported by Zeng et al illustrates some of the difficulties in pinning down the functional variation underlying tagSNP signals, especially when comparing ethnic groups. First, we address the question of how many independent CRC SNPs exist near EIF3H? Zeng et al found that 2 SNPs (rs2450115 and rs6469656), near EIF3H, mapped to a haplotype block harboring a previously reported CRC SNP in Europeans (rs16892766 6 ), which happened to be monomorphic in Asians. Interestingly, rs2450115 and rs6469656, which are in mild linkage disequilibrium (LD) in Asians (r 2 ¼ 0.20), remained nominally significant (P ¼ 9.60 10 -6 for rs2450115 and P ¼ 8.30 10 -4 for rs6469656) after joint association analysis by Zeng et al. These 2 SNPs were also tested individually in European case- control studies where each was nominally associated with CRC (P ¼ .0003 for rs2450115 and P ¼ .02 for rs6469656). In Europeans, however, these 2 SNPs have stronger LD (r 2 ¼ 0.40) and Zeng et al’s joint analysis showed that only rs2450115 remained nominally associated with CRC (P ¼ .007), as we ourselves had found in our own previous fine- mapping study. 7 Altogether, these observations are incon- clusive, but are consistent with a scenario in which rs2450115 or a strongly correlated SNP is the mostly likely variant driving a single, independent chromosome 8q23 signal. Second, Zeng et al reported a CRC SNP (rs6061231) mapping to chromosome 20q13, a region containing another SNP (rs4925386) that has previously been associ- ated with CRC in Europeans. 8 These 2 SNPs are in weaker LD in Asians (r 2 ¼ 0.15) than in Europeans (r 2 ¼ 0.44). After conditional testing in the Asian data sets, only rs6061231 remained significant, naturally leading Zeng et al to suggest that rs6061231 better captured the 20q13 signal. Interest- ingly, a recent study by Al Tassan, 9 found a third 20q13 CRC variant (rs2427308), which based on 1000 Genomes (1KG) data, is in full LD with rs6061231 in Han Chinese (r 2 ¼ 1.0) and in very high LD in East Asians (r 2 ¼ 0.89, Figure 1). rs2427308 and rs6061231 also show strong LD in 1000 Genomes Project Europeans (r 2 ¼ 0.69, Figure 1). rs6061231 may thus not be an entirely new CRC variant and further studies are needed to assess whether it, rs2427308, and rs4925386 are tagging single or multiple functional 20q13 variants. This work is also important for the detailed functional studies required to determine the identity of the target gene in the region. Although Zeng et al clearly identified new CRC regions on chromosomes 6p21, 10q24 and 12p13, questions remain about the novelty and number of risk alleles on chromo- somes 8q23 and 20q13. Furthermore, although Zeng et al report heterogeneity between Asians and Europeans for 3 SNPs (rs4919687/10q24, rs4711689/6p21, and rs6061231/ 20q13), it seems unlikely that their preferred explanation, effect allele frequency, is the principal factor causing these differences. A further inherently troublesome area in GWAS is the identity of the gene(s) which are the targets of the under- lying functional variation that influences disease suscepti- bility. In an attempt to assign genes to SNPs, Zeng et al performed expression quantitative trait locus analysis in anatomically normal colon tissue from 188 Asian patients
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- 2016
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50. Aneurismas de la arteria pulmonar. Reporte de un caso y revisión de la literatura
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Rafael Lince, Juan F. Gómez, Juan R. Donado, Mónica Guzmán, Luis H Díaz, Rosalba Vivas, Miguel Ruz, and Luis F. Carvajal
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Gynecology ,Pulmonary artery aneurysm ,medicine.medical_specialty ,endovascular therapy ,business.industry ,terapia endovascular ,mycotic aneurysm ,Endovascular therapy ,aneurisma de la arteria pulmonar ,RC666-701 ,Medicine ,Diseases of the circulatory (Cardiovascular) system ,pulmonary artery aneurysm ,aneurisma micótico ,Cardiology and Cardiovascular Medicine ,business - Abstract
Los aneurismas de la arteria pulmonar son poco frecuentes en niños. Entre sus principales causas se encuentran procesos infecciosos como la endocarditis, que favorece el desarrollo de aneurismas micóticos, en especial en pacientes con defectos cardíacos congénitos y en aquellos con adicción a drogas de uso endovenoso (sobre todo en adultos), y lleva al desarrollo de aneurismas micóticos. Las opciones de tratamiento dependen de las características de la lesión y de la condición clínica del paciente.Se presenta el caso de una paciente de siete años, quien fue referida para evaluación por endocarditis infecciosa de la válvula tricúspide debida a Staphylococcus aureus. Desarrolló aneurismas bilaterales en ramas lobulares de la arteria pulmonar secundarios a la infección valvular. El aneurisma del lado derecho era de gran tamaño y con alto riesgo de ruptura, razón de peso para que se le efectuara embolización con coils. El procedimiento fue exitoso y no se documentaron complicaciones. La lesión del lado izquierdo se trató de forma expectante teniendo en cuenta que era de menor tamaño. En la actualidad la paciente está en seguimiento ambulatorio con el fin de vigilar la evolución del aneurisma del lado izquierdo.Pulmonary artery aneurysms are infrequent in children. Among its main causes are infectious processes such as endocarditis which favors the development of mycotic aneurysms especially in patients with congenital heart defects and in those with endovenous drug addiction (mainly in adults) that develop mycotic aneurysms. Treatment options depend on the characteristics of the lesion and the clinical condition of the patient.We present the case of a seven year old female patient who was referred for evaluation of infectious endocarditis of the tricuspid valve due to Staphylococcus aureus. She developed bilateral aneurysms in lobular branches of the pulmonary artery secondary to the valve infection. The right aneurysm was large and had a high risk of rupture, and for this reason an embolization with coils was performed. The procedure was successful and no complications were documented. Given that the left side lesion was smaller, it received an expectant management. At present, the patient has ambulatory follow-up in order to monitor the evolution of the left side aneurysm.
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- 2011
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