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https://www.readbyqxmd.com/read/28731662/-langer-giedion-syndrome-with-8q23-1-q24-12-deletion-diagnosed-by-comparative-genomic-hybridization
#1
Felipe Ruiz-Botero, Harry Pachajoa
The Langer-Giedion syndrome, also known as trichorhinophalangeal syndrome type II, is a hereditary multisystemic disease part of the group of contiguous gene deletion syndromes. The cause of this syndrome is a heterozygous deletion that involves the chromosomal region 8q23.3-q24.11 and mainly affects genes TRPS1, RAD21, and EXT1. This syndrome is characterized by the presence of multiple osteochondromas in limbs, hypertrichosis, and facial phenotype that includes sparse scalp hair, large laterally protruding ears, a long nose with a bulbous tip...
August 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28728800/-cross-cultural-adaptation-of-the-pedsql-questionnaire-cancer-module-version-3-0-for-use-in-colombia
#2
Luis Fernando Fontibón, Sandra Liliana Ardila, Ricardo Sánchez
INTRODUCTION: Quality of life is an important outcome in paediatric cancer patients. Its evaluation at different times during the clinical course of the disease is essential for clinical practice focused on the needs of the patients. There is not a specific assessment tool for this purpose in Colombia. OBJECTIVE: To perform the cultural adaptation of the quality of life scale PedsQL (Paediatric Quality of Life) Cancer Module, Version 3.0 for use in Colombia. METHODS: Permission for use of the scale was obtained and the algorithm steps of the Mapi Research Trust group were followed: Direct and independent translations of scale by two native Colombian Spanish speaking translators, obtaining a preliminary version from the translations...
July 2017: Revista Colombiana de Psiquiatría
https://www.readbyqxmd.com/read/28728798/-multiple-victimisation-due-to-armed-conflict-and-emotional-distress-in-the-state-of-magdalena-colombia
#3
Adalberto Campo-Arias, Adriana R Sanabria, Anyelly Ospino, Valeria M Guerra, Beatriz H Caamaño
BACKGROUND: Emotional distress is common in Colombian armed conflict victims. Multiple-victimisation is associated with an increase in emotional distress than victimisation due a single event. However, the association between poly-victimisation and emotional distress among victims of the armed conflict in Colombia has not been documented. OBJECTIVE: To study the association between multiple-victimisation and emotional distress in victims of armed conflict in the State of Magdalena, Colombia...
July 2017: Revista Colombiana de Psiquiatría
https://www.readbyqxmd.com/read/28724059/screening-tests-for-distal-symmetrical-polyneuropathy-in-latin-american-patients-with-type-2-diabetes-mellitus
#4
Nicolás Gómez-Banoy, Virginia Cuevas, Fernando Soler, Maria Fernanda Pineda, Ismena Mockus
Objective: This cross sectional study intended to evaluate two bedside tests (Neuropad and VibraTip) as screening tools for distal symmetrical polyneuropathy (DSPN) in Latin American patients with type 2 diabetes mellitus (T2D). Subjects and methods: Ninety-three Colombian patients diagnosed with T2D were recruited. Anthropometric variables, glycemic control parameters, lipid profile and renal function were assessed for each patient. DSPN was defined by a Michigan Neuropathy Screening Instrument (MNSI) clinical score greater than 2...
July 13, 2017: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28719081/drought-induced-mortality-patterns-and-rapid-biomass-recovery-in-a-terra-firme-forest-in-the-colombian-amazon
#5
Daniel Zuleta, Alvaro Duque, Dairon Cardenas, Helene C Muller-Landau, Stuart Davies
Extreme climatic events affecting the Amazon region are expected to become more frequent under ongoing climate change. In this study, we assessed the responses to the 2010 drought of over 14,000 trees ≥ 10 cm dbh in a 25 ha lowland forest plot in the Colombian Amazon and how these responses varied among topographically defined habitats, with tree size, and with species wood density. Tree mortality was significantly higher during the 2010-2013 period immediately after the drought than in 2007-2010. The post-drought increase in mortality was stronger for trees located in valleys (+243%) than for those located on slopes (+67%) and ridges (+57%)...
July 18, 2017: Ecology
https://www.readbyqxmd.com/read/28718496/-introduction-of-rapid-syphilis-and-hiv-testing-in-prenatal-care-in-colombia-qualitative-analysis
#6
María Teresa Ochoa-Manjarrés, Hernando Guillermo Gaitán-Duarte, Sidia Caicedo, Berta Gómez, Freddy Pérez
Objective: Interpret perceptions of Colombian health professionals concerning factors that obstruct and facilitate the introduction of rapid syphilis and HIV testing in prenatal care services. Methods: A qualitative study based on semi-structured interviews was carried out. A convenience sample was selected with 37 participants, who included health professionals involved in prenatal care services, programs for pregnant women, clinical laboratories, and directors of health care units or centers, as well as representatives from regional departments and the Ministry of Health...
December 2016: Revista Panamericana de Salud Pública, Pan American Journal of Public Health
https://www.readbyqxmd.com/read/28716580/-determination-of-prognostic-value-to-6-months-of-oesil-risk-score-in-a-colombian-cohort-with-syncope-evaluated-in-the-emergency-department-first-latin-american-experience
#7
Diana Carolina Díaz-Tribaldos, Guillermo Mora, Alejandro Olaya, Jorge Marín, Fabio Sierra Matamoros
OBJECTIVES: To establish the prognostic value with sensitivity, specificity, positive predictive value, and negative predictive value for the OESIL syncope risk score to predict the presentation of severe outcomes (death, invasive interventions, and readmission) within 6 months of observation in adults who consult to the emergency department because of syncope. METHODS: Observational, prospective, and multicenter study with enrolment of subjects older than 18 years, who consulted to the emergency department because of syncope...
July 14, 2017: Archivos de Cardiología de México
https://www.readbyqxmd.com/read/28714178/emergence-and-whole-genome-sequence-of-senecavirus-a-in-colombia
#8
D Sun, F Vannucci, T P Knutson, C Corzo, D G Marthaler
In 2015 and 2016, Senecavirus A (SVA) emerged as an infectious disease in Brazil, China and the United States (US). In a Colombian commercial swine farm, vesicles on the snout and coronary bands were reported and tested negative for foot-and-mouth disease virus (FMDv), but positive for SVA. The whole-genome phylogenetic analysis indicates the Colombian strain clusters with the strains from the United States, not with the recent SVA strains from Brazil.
July 16, 2017: Transboundary and Emerging Diseases
https://www.readbyqxmd.com/read/28699696/scaling-children-s-waist-circumference-for-differences-in-body-size
#9
Alan M Nevill, Michael J Duncan, Ian M Lahart, Paul Davies, Robinson Ramirez-Velez, Gavin Sandercock
OBJECTIVES: Both waist circumference (WC) and body size (height) increase with age throughout childhood. Hence, there is a need to scale WC in children to detect differences in adiposity status (eg, between populations and different age groups), independent of body size/height. METHODS: Using two culturally different samples, 1 English (10-15.9 years n = 9471) and 2 Colombian (14-15 years, n = 37,948), for WC to be independent of height (HT), a body shape index was obtained using the allometric power law WC = a...
July 12, 2017: American Journal of Human Biology: the Official Journal of the Human Biology Council
https://www.readbyqxmd.com/read/28697745/using-lms-tables-to-determine-waist-circumference-and-waist-to-height-ratios-in-colombian-children-and-adolescents-the-fuprecol-study
#10
Robinson Ramírez-Vélez, Javier Moreno-Jiménez, Jorge Enrique Correa-Bautista, Javier Martínez-Torres, Katherine González-Ruiz, Emilio González-Jiménez, Jacqueline Schmidt-RioValle, Felipe Lobelo, Antonio Garcia-Hermoso
BACKGROUND: Waist circumference (WC) and waist-to-height ratio (WHtR) are often used as indices predictive of central obesity. The aims of this study were: 1) to obtain smoothed centile charts and LMS tables for WC and WHtR among Colombian children and adolescents; 2) to evaluate the utility of these parameters as predictors of overweight and obesity. METHOD: A cross-sectional study was conducted of a sample population of 7954 healthy Colombian schoolchildren [3460 boys and 4494 girls, mean age 12...
July 11, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/28685476/raising-awareness-for-lung-cancer-prevention-and-healthy-lifestyles-in-female-scholars-from-a-low-income-area-in-bogota-colombia-evaluation-of-a-national-framework
#11
J F Meneses-Echávez, P A Alba-Ramírez, J E Correa-Bautista
This study aims to determine the effects of an educational intervention, based on the Colombian guidelines for educational communication in the framework of cancer control, for raising lung cancer prevention-related awareness, and improving healthy lifestyles in female scholars from a low-income area in Bogota, Colombia. Uncontrolled trial conducted in 243 female scholars (mean age 14 years ± 1.5 SD). Two 90 min educational sessions were carried out in March 2015 according to the Colombian guidelines for educational communication in the framework of cancer control...
July 6, 2017: Journal of Cancer Education: the Official Journal of the American Association for Cancer Education
https://www.readbyqxmd.com/read/28685055/identification-of-genetic-variants-in-pharmacogenetic-genes-associated-with-type-2-diabetes-in-a-mexican-mestizo-population
#12
Nidia Samara Rodríguez-Rivera, Patricia Cuautle-Rodríguez, Fernando Castillo-Nájera, Juan Arcadio Molina-Guarneros
Type 2 diabetes mellitus (T2DM) is one of the most prevalent chronic pathologies in the world. In developing countries, such as Mexico, its prevalence represents an important public health and research issue. Determining factors triggering T2DM are environmental and genetic. While diet, exercise and proper weight control are the first measures recommended to improve the quality of life and life expectancy of patients, pharmacological treatment is usually the next step. Within every population there are variations in interindividual drug response, which may be due to genetic background...
July 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28683379/work-related-illness-work-related-accidents-and-lack-of-social-security-in-colombia
#13
María Teresa Buitrago Echeverri, César Ernesto Abadía-Barrero, Consuelo Granja Palacios
The impacts of neoliberal or market-based social security reforms in health have been extensively studied. How such reforms transformed employment-related insurance and entitlements, however, has received significantly less attention. This study aims to understand how the employment insurance system operates in Colombia and to assess how the experience of workers seeking social security entitlements relates to the system's structure. We conducted an ethnographic study of the Colombian Occupational Risk System between May 2014 and March 2016, with two main components: 1) analysis of the system itself through in-depth interviews with 32 people working in leadership positions and a systematic review of the system's most important legislation, and 2) a study of people who experienced problems receiving entitlements and were challenging the assessment of their work-related illness or accident...
June 23, 2017: Social Science & Medicine
https://www.readbyqxmd.com/read/28680148/prevalence-and-penetrance-of-brca1-and-brca2-germline-mutations-in-colombian-breast-cancer-patients
#14
D Torres, J Lorenzo Bermejo, M U Rashid, I Briceño, F Gil, A Beltran, V Ariza, U Hamann
Pathogenic BRCA1/2 germline mutations confer high risks of breast and ovarian cancer to women of European ancestry. Characterization of BRCA1/2 mutations in other ethnic groups is also medically important. We comprehensively screened 68 Colombian breast/ovarian cancer families for small-range mutations, 221 families for large-genomic rearrangements, and 1,022 unselected breast cancer cases for Colombian founder mutations in BRCA1/2. The risk of cancer among relatives of mutation carriers and the mutation penetrance were estimated by survival analysis...
July 5, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28665846/three-dimensional-anthropometric-evaluation-of-facial-morphology
#15
Ahmet Arif Celebi, Chung How Kau, Bunyamin Ozaydin
OBJECTIVES: The objectives of this study were to evaluate sexual dimorphism for facial features within Colombian and Mexican-American populations and to compare the facial morphology by sex between these 2 populations. MATERIALS AND METHODS: Three-dimensional facial images were acquired by using the portable 3dMDface system, which captured 223 subjects from 2 population groups of Colombians (n = 131) and Mexican-Americans (n = 92). Each population was categorized into male and female groups for evaluation...
July 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28662815/cardiovascular-risk-factors-and-carotid-intima-media-thickness-in-a-colombian-population-with-psoriasis
#16
A Argote, O Mora-Hernández, L Milena Aponte, D I Barrera-Chaparro, L M Muñoz-Ruiz, L Giraldo-Mordecay, D Camargo
BACKGROUND AND OBJECTIVES: Psoriasis is now known to have a clear association with metabolic syndrome and its components. The aim of our study was to determine the prevalence of cardiovascular risk factors (CVRFs) and increased carotid intima-media thickness in psoriasis patients seen in the dermatology department of a quaternary hospital. MATERIAL AND METHODS: This was a descriptive cross-sectional study of psoriasis patients aged over 18 years seen in the dermatology department of Hospital de San José in Bogota, Colombia, between March and August, 2015...
June 27, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/28659061/dendropsophin-1-a-novel-antimicrobial-peptide-from-the-skin-secretion-of-the-endemic-colombian-frog-dendropsophus-columbianus
#17
Luz Elena Triana-Vidal, Mariana Souza Castro, Osmindo Rodrigues Pires Júnior, Alice Cunha Morales Álvares, Sonia Maria de Freitas, Wagner Fontes, Jimmy Alexander Guerrero Vargas, Jorge Alberto Zúñiga-Baos, Isabel de Fátima Correia Batista, Philippe Grellier, Sébastien Charneau
In efforts to find new antimicrobial peptides (AMPs), we studied the skin secretion of the endemic Colombian frog Dendropsophus columbianus belonging to a genus that has not been investigated previously. From HPLC-fractionated secretion, we identified one peptide with slightly antibacterial activity. Its peptide sequence showed no sequence similarity to current annotated peptides. We named this novel peptide dendropsophin 1 (Dc1). Afterward, two analogues were designed (Dc1.1 and Dc1.2) to improve the cationic and amphipathic features...
June 29, 2017: Natural Product Research
https://www.readbyqxmd.com/read/28657536/-is-the-scientific-name-important-in-medical-journals-experience-in-a-colombian-university-is-the-scientific-name-important-in-medical-journals
#18
https://www.readbyqxmd.com/read/28653354/a-new-strategy-for-umbilical-cord-blood-collection-developed-at-the-first-colombian-public-cord-blood-bank-increases-total-nucleated-cell-content
#19
Diana Vanegas, Lady Triviño, Cristian Galindo, Leidy Franco, Gustavo Salguero, Bernardo Camacho, Ana-María Perdomo-Arciniegas
BACKGROUND: The total nucleated cell dosage of umbilical cord blood (UCB) is an important factor in determining successful allogeneic hematopoietic stem cell transplantation after a minimum human leukocyte antigen donor-recipient match. The northern South American population is in need of a new-generation cord blood bank that cryopreserves only units with high total nucleated cell content, thereby increasing the likelihood of use. Colombia set up a public cord blood bank in 2014; and, as a result of its research for improving high total nucleated cell content, a new strategy for UCB collection was developed...
June 26, 2017: Transfusion
https://www.readbyqxmd.com/read/28651798/cycling-to-school-and-body-composition-physical-fitness-and-metabolic-syndrome-in-children-and-adolescents
#20
Robinson Ramírez-Vélez, Antonio García-Hermoso, Cesar Agostinis-Sobrinho, Jorge Mota, Rute Santos, Jorge Enrique Correa-Bautista, Deisy Constanza Amaya-Tambo, Emilio Villa-González
OBJECTIVE: To evaluate the association between cycling to/from school and body composition, physical fitness, and metabolic syndrome among a sample of Colombian children and adolescents. STUDY DESIGN: During the 2014-2015 school year, we examined a cross-sectional component of the Association for muscular strength with early manifestation of cardiovascular disease risk factors among Colombian children and adolescents (FUPRECOL) study. Participants included 2877 youths (54...
June 23, 2017: Journal of Pediatrics
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