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https://www.readbyqxmd.com/read/28543421/foreign-relations
#1
Alejandro De La Hoz, Eduardo Díaz, Max Moses Feinstein
In a large Colombian teaching hospital, a fifty-five-year-old woman complaining of stomach pain is examined by a foreign-exchange medical student from the United States. Speaking in Spanish, the student elicits a medical history that suggests a possible recurrence of gallstones, but nothing further. Upon discussing the patient's case in private with the attending physician, the student is shocked to learn that the patient is suffering from terminal, metastatic gastric cancer but is unaware of her diagnosis...
May 2017: Hastings Center Report
https://www.readbyqxmd.com/read/28543373/acss2-gene-variant-associated-with-cleft-lip-and-palate-in-two-independent-hispanic-populations
#2
Sonam Dodhia, Katrina Celis, Alana Aylward, Yi Cai, Maria E Fontana, Alberto Trespalacios, David C Hoffman, Henry Ostos Alfonso, Sidney B Eisig, Gloria H Su, Wendy K Chung, Joseph Haddad
OBJECTIVES/HYPOTHESIS: A candidate variant (p.Val496Ala) of the ACSS2 gene (T > C missense, rs59088485 variant at chr20: bp37 33509608) was previously found to consistently segregate with nonsyndromic cleft lip and/or palate (NSCLP) in three Honduran families. Objectives of this study were 1) to investigate the frequency of this ACSS2 variant in Honduran unrelated NSCLP patients and unrelated unaffected controls and 2) to investigate the frequency of this variant in Colombian unrelated affected NSCLP patients and unrelated unaffected controls...
May 23, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28541421/a-homozygous-donor-splice-site-mutation-in-the-meiotic-gene-msh4-causes-primary-ovarian-insufficiency
#3
Carolina Carlosama, Maëva El Zaiat, Liliana C Patiño, Heidi E Mateus, Reiner A Veitia, Paul Laissue
Premature ovarian insufficiency (POI) is a frequent pathology that affects women under 40 years of age, characterized by an early cessation of menses and high FSH levels. Despite recent progresses in molecular diagnosis, the etiology of POI remains idiopathic in most cases. Whole-exome sequencing of members of a Colombian family affected by POI allowed us to identify a novel homozygous donor splice-site mutation in the meiotic gene MSH4 (MutS Homolog 4). The variant followed a strict mendelian segregation within the family and was absent in a cohort of 135 women over 50 years of age without history of infertility, from the same geographical region as the affected family...
May 24, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28537030/chemical-contamination-assessment-in-mangrove-lined-caribbean-coastal-systems-using-the-oyster-crassostrea-rhizophorae-as-biomonitor-species
#4
Javier R Aguirre-Rubí, Andrea Luna-Acosta, Nestor Etxebarría, Manu Soto, Félix Espinoza, Michael J Ahrens, Ionan Marigómez
This paper aims to contribute to the use of mangrove cupped oyster, Crassostrea rhizophorae, as a biomonitor species for chemical contamination assessment in mangrove-lined Caribbean coastal systems. Sampling was carried out in eight localities (three in Nicaragua and five in Colombia) with different types and levels of contamination. Oysters were collected during the rainy and dry seasons of 2012-2013 and the tissue concentrations of metals, polycyclic aromatic hydrocarbons (PAHs), and persistent organic pollutants (POPs) were determined...
May 24, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/28534927/genome-wide-association-study-for-birth-weaning-and-yearling-weight-in-colombian-brahman-cattle
#5
Rodrigo Martínez, Diego Bejarano, Yolanda Gómez, Romain Dasoneville, Ariel Jiménez, Gael Even, Johann Sölkner, Gabor Mészáros
Genotypic and phenotypic data of 1,562 animals were analyzed to find genomic regions that potentially influence the birth weight (BW), weaning weight at seven months of age (WW) and yearling weight (YW) of Colombian Brahman cattle, with genotyping conducted using Illumina Bead chip array with 74,669 SNPs. A Single Step Genomic BLUP (ssGBLP), approach was used to estimate the proportion of variance explained by each marker. Multiple regions scattered across the genome were found to influence weights at different ages, also dependent on the trait component (direct or maternal)...
May 22, 2017: Genetics and Molecular Biology
https://www.readbyqxmd.com/read/28532988/molecular-and-serological-detection-of-trypanosoma-cruzi-in-dogs-canis-lupus-familiaris-suggests-potential-transmission-risk-in-areas-of-recent-acute-chagas-disease-outbreaks-in-colombia
#6
Jeiczon Jaimes-Dueñez, Omar Triana-Chávez, Omar Cantillo-Barraza, Carolina Hernández, Juan David Ramírez, Agustín Góngora-Orjuela
Chagas disease is a zoonotic infection widely distributed in tropical and subtropical regions of America, including more than 50% of the Colombian territory. In the last years, an increase of outbreaks of acute Chagas disease has been observed in the east of the country due to environmental changes and mammal movements toward human settlements. Given the importance of dogs (Canis lupus familiaris) as reservoir hosts and sentinels of Trypanosoma cruzi infection across different regions of America, in this study we reported a serological and molecular detection of T...
June 1, 2017: Preventive Veterinary Medicine
https://www.readbyqxmd.com/read/28532280/trends-and-characteristics-of-fetal-and-neonatal-mortality-due-to-congenital-anomalies-colombia-1999-2008
#7
Claudia Patricia Roncancio, Sandra Patricia Misnaza, Isabel Cristina Peña, Franklyn Edwin Prieto, Michael J Cannon, Diana Valencia
OBJECTIVE: To describe fetal and neonatal mortality due to congenital anomalies in Colombia. METHODS: We analyzed all fetal and neonatal deaths due to a congenital anomaly registered with the Colombian vital statistics system during 1999-2008. RESULTS: The registry included 213,293 fetal deaths and 7,216,727 live births. Of the live births, 77,738 (1.08%) resulted in neonatal deaths. Congenital anomalies were responsible for 7321 fetal deaths (3...
May 22, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28528518/a-multi-gene-panel-study-in-hereditary-breast-and-ovarian-cancer-in-colombia
#8
A M Cock-Rada, C A Ossa, H I Garcia, L R Gomez
Germline mutations in BRCA1 and BRCA2 account for approximately 50% of inherited breast and ovarian cancers. Three founder mutations in BRCA1/2 have been reported in Colombia, but the pattern of mutations in other cancer susceptibility genes is unknown. This study describes the frequency and type of germline mutations in hereditary breast and/or ovarian cancer genes in a referral cancer center in Colombia. Eighty-five women referred to the oncogenetics unit of the Instituto de Cancerologia Las Americas in Medellin (Colombia), meeting testing criteria for hereditary breast and ovarian cancer syndrome (NCCN 2015), who had germline testing with a commercial 25-gene hereditary cancer panel, were included in the analysis...
May 20, 2017: Familial Cancer
https://www.readbyqxmd.com/read/28527291/haplotypes-in-ccr5-ccr2-ccl3-and-ccl5-are-associated-with-natural-resistance-to-hiv-1-infection-in-a-colombian-cohort
#9
Jorge A Vega, Simón Villegas-Ospina, Wbeimar Aguilar-Jiménez, María T Rugeles, Gabriel Bedoya, Wildeman Zapata
INTRODUCTION: Variants in genes encoding for HIV-1 co-receptors and their natural ligands have been individually associated to natural resistance to HIV-1 infection. However, the simultaneous presence of these variants has been poorly studied. OBJECTIVE: To evaluate the association of single and multilocus haplotypes in genes coding for the viral co-receptors CCR5 and CCR2, and their ligands CCL3 and CCL5, with resistance or susceptibility to HIV-1 infection. MATERIALS AND METHODS: Nine variants in CCR5-CCR2, two SNPs in CCL3 and two in CCL5 were genotyped by PCR-RFLP in 35 seropositive (cases) and 49 HIV-1-exposed seronegative Colombian individuals (controls)...
June 1, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28527290/association-of-polymorphic-variants-of-ptpn22-tnf-and-vdr-genes-in-children-with-lupus-nephritis-a-study-in-colombian-family-triads
#10
Gloria Garavito, Eduardo Egea, Luis Fang, Clara Malagón, Carlos Olmos, Luz González, Pilar Guarnizo, Gustavo Aroca, Guillermo López, Antonio Iglesias
INTRODUCTION: Systemic lupus erythematosus is an autoimmune disease in which the severity varies according to race, sex and age of onset. This variation is also observed in the genetic markers associated with the disease, including PTPN22, VDR and TNF genes. The genetic stratification in different populations worldwide can influence the variability. OBJECTIVE: To analyze the heritability of PTPN22, VDR and TNF genetic variants and their association with pediatric lupus nephritis in Colombian families...
June 1, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28527289/-characterization-of-patients-with-skeletal-genetic-diseases-in-a-colombian-referral-center
#11
Harvy Mauricio Velasco, Lina Patricia Buelvas
INTRODUCTION: Short height in Colombia has an estimated prevalence of 10%. The 2009 Nosology and Classification of Skeletal Genetic Diseases described 456 clinical conditions using biochemical, molecular and radiological criteria for diagnosis. OBJECTIVE: To analyze demographic, epidemiological and clinical variables in a group of patients with skeletal genetic diseases referred to the Instituto de Ortopedia Infantil Roosevelt. MATERIALS AND METHODS: Patients referred between 2008 and 2014 were analyzed filtering 167 diagnoses of the International Classification of Diseases, 10th revision (ICD 10), related to skeletal genetic diseases...
June 1, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28527282/-determination-of-hla-a-b-and-drb1-polymorphism-in-brain-dead-organ-donors-representative-of-the-colombian-general-population-2007-2014
#12
Yazmin Rocío Arias, Karime Osorio-Arango, Brayan Bayona, Guadalupe Ercilla, Mauricio Beltrán-Durán
INTRODUCTION: Genes encoding for human leukocyte antigens (HLA) are highly polymorphic and of great importance in organ transplantation procedures, as determining allelic frequencies in defined populations is taken into account among the scientific criteria for organ allocation. OBJECTIVE: The objective of this study was to establish the antigen HLA-A, -B, and -DRB1 haplotype frequencies in organ donors representative of the Colombian population after brain death...
June 1, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28527281/-survival-in-renal-transplant-recipients-in-colombia-2008-2012
#13
Karime Osorio-Arango, Mauricio Beltrán-Durán, Yazmín Arias-Murillo, Franklyn Prieto, Adriana Robayo
INTRODUCTION: The Red Nacional de Donación y Trasplantes of the Colombian Instituto Nacional de Salud reported that in 2014, 1,059 organ transplants were performed, of which 761 were kidney transplants, and 643 (84.5%) of these were from cadaveric organ donors. OBJECTIVE: To describe the socio-demographic characteristics of patients who received renal transplants, as well as their outcomes in terms of survival. MATERIALS AND METHODS: National kidney transplants were analyzed through an observational retrospective cohort study...
June 1, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28527270/-effect-of-antenatal-spiramycin-treatment-on-the-frequency-of-retinochoroiditis-due-to-congenital-toxoplasmosis-in-a-colombian-cohort
#14
Liliana María Zuluaga, John Camilo Hernández, Carlos Felipe Castaño, Jorge Hernando Donado
INTRODUCTION: Gestational toxoplasmosis is frequent and severe. There is still debate about the benefits of treatment against ocular manifestations in the newborn. Spiramycin treatment is used for this purpose, unfortunately prenatal diagnosis is sometimes delayed and pregnant women are not treated. OBJECTIVE: To describe the relationship between treatment with spiramycin during pregnancy in mothers with gestational toxoplasmosis and development of ocular toxoplasmosis in newborns...
April 1, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28527265/-profile-of-lithium-carbonate-use-in-patients-with-bipolar-disorder-in-colombia
#15
Manuel Enrique Machado-Duque, Catalina Alzate-Carvajal, Kevin Zapata-Castañeda, Jorge Enrique Machado-Alba
INTRODUCTION: Lithium is the drug of choice for the treatment of bipolar affective disorder. OBJECTIVE: To define lithium therapeutic profile and adverse reactions to its use in patients with bipolar affective disorder in Colombia. MATERIALS AND METHODS: We conducted an observational retrospective cohort study between January 1 and December 31, 2013, which included patients with a diagnosis of bipolar disorder treated with lithium carbonate in 25 Colombian cities; we evaluated socio-demographic variables, lithium dose, co-medication, drug interactions and adverse reactions...
April 1, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28527244/-hepatitis-c-virus-genotypes-circulating-in-colombia
#16
Óscar Santos, Alberto Gómez, Viviana Vizcaíno, María Consuelo Casas, María Del Pilar Ramírez, Patricia Olaya
INTRODUCTION: Chronic hepatitis C virus infection is a worldwide public health problem; it has been estimated that over 180 million people are infected with this virus worldwide. Its precise incidence and prevalence (i.e., epidemiology) and the most frequent circulating genotypes in Colombia are unknown. OBJECTIVE: To describe the hepatitis C virus (HCV) genotypes and subtypes in infected Colombian patients. MATERIALS AND METHODS: We recovered the data on 1,538 HCV isolates from 1,527 patients in two Colombian reference laboratories typed by PAGE or qPCR...
January 24, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28509612/defining-the-phylogenetic-position-of-amanita-species-from-andean-colombia
#17
Natalia Vargas, Carlos José Pardo-de La Hoz, Giovanna Danies, Ana Esperanza Franco-Molano, Pedro Jiménez, Silvia Restrepo, Alejandro Grajales
Amanita is a worldwide-distributed fungal genus, with approximately 600 known species. Most species within the genus are ectomycorrhizal (ECM), with some saprotrophic representatives. In this study, we constructed the first comprehensive phylogeny including ECM species from Colombia collected in native Quercus humboldtii forests and in introduced Pinus patula plantations. We included 8 species (A. brunneolocularis, A. colombiana, A. flavoconia, A. fuligineodisca, A. muscaria, A. rubescens, A. sororcula, and A...
April 12, 2017: Mycologia
https://www.readbyqxmd.com/read/28506229/determinants-of-felt-demand-for-dengue-vaccines-in-the-north-caribbean-region-of-colombia
#18
Yalil T Bracho-Churio, Ruth A Martínez-Vega, Alfonso J Rodriguez-Morales, Ronald G Díaz-Quijano, María L Luna-González, Fredi A Diaz-Quijano
BACKGROUND: The increasing burden associated with dengue in Latin America makes it essential to understand the community's interest in acquiring vaccines, as an input to plan its introduction in endemic regions. The objective of this study is to learn the felt demand for dengue vaccines by estimating the willingness to pay and its associated factors in endemic communities of the North Caribbean region of Colombia. METHODS: A population survey was administered from October to December 2015, including 1037 families in 11 municipalities in Colombia...
May 15, 2017: Annals of Clinical Microbiology and Antimicrobials
https://www.readbyqxmd.com/read/28500802/high-resolution-melting-curve-analysis-of-the-16s-ribosomal-gene-to-detect-and-identify-pathogenic-and-saprophytic-leptospira-species-in-colombian-isolates
#19
Ronald G Peláez Sánchez, Juan Álvaro López Quintero, Martha María Pereira, Piedad Agudelo-Flórez
AbstractIt is important to identify the circulating Leptospira agent to enhance the performance of serodiagnostic tests by incorporating specific antigens of native species, develop vaccines that take into account the species/serovars circulating in different regions, and optimize prevention and control strategies. The objectives of this study were to develop a polymerase chain reaction (PCR)-high-resolution melting (HRM) assay for differentiating between species of the genus Leptospira and to verify its usefulness in identifying unknown samples to species level...
May 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28493183/geochemical-characterization-of-fluoride-in-water-table-salt-active-sediment-rock-and-soil-samples-and-its-possible-relationship-with-the-prevalence-of-enamel-fluorosis-in-children-in-four-municipalities-of-the-department-of-huila-colombia
#20
Stefania Martignon, Mario Omar Opazo-Gutiérrez, Möritz Velásquez-Riaño, Iván Rodrigo Orjuela-Osorio, Viviana Avila, Esperanza Angeles Martinez-Mier, María Clara González-Carrera, Jaime Alberto Ruiz-Carrizosa, Blanca Cecilia Silva-Hermida
Fluoride is an element that affects teeth and bone formation in animals and humans. Though the use of systemic fluoride is an evidence-based caries preventive measure, excessive ingestion can impair tooth development, mainly the mineralization of tooth enamel, leading to a condition known as enamel fluorosis. In this study, we investigated the geochemical characterization of fluoride in water, table salt, active sediment, rock and soil samples in four endemic enamel fluorosis sentinel municipalities of the department of Huila, Colombia (Pitalito, Altamira, El Agrado and Rivera), and its possible relationship with the prevalence of enamel fluorosis in children...
June 2017: Environmental Monitoring and Assessment
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