Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 23
Filtrar
1.
J Food Prot ; 87(6): 100282, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38663638

RESUMO

Recent fresh produce outbreaks potentially associated with bioaerosol contamination from animal operations in adjacent land highlighted the need for further study to better understand the associated risk. The purpose of this research was to evaluate three sampling methods for quantifying target bacterial bioaerosols from animal operations. A dairy cattle and poultry farm located in Georgia, U.S. were visited six times each. Air was collected for 10 min using: 2-stage Andersen impactor with and without mineral oil overlay and impingement samplers. Sampling devices were run concurrently at 0.1, 1, and 2 m heights (n = 36). Andersen samplers were loaded with CHROMagar™ Salmonella, CHROMagar™ STEC, or Brilliance™ coliforms/E. coli. The impingement sampler contained buffered peptone water (20 mL) which was vacuum filtered through a 0.45 µm filter and placed onto the respective media. Plates were incubated at 37 ℃ for 48 h. PCR confirmation followed targeting ttr for Salmonella and stx1, stx2, and eae genes for STEC. No significant differences were found among methods to quantify coliforms and E. coli. Salmonella and STEC bioaerosols were not detected by any of the methods (Limit of detection: 0.55 log CFU/m3). E. coli bioaerosols were significantly greater in the poultry (2.76-5.00 log CFU/m3) than in the cattle farm (0.55-2.82 log CFU/m3) (p < 0.05), and similarly distributed at both stages in the Andersen sampler (stage 1:>7 µm; stage 2: 0.65-7 µm particle size). Sampling day did not have a significant effect on the recovery of coliforms/E. coli bioaerosols in the poultry farm when samples were taken at the broiler house exhaust fan (p > 0.05). A greater and constant emission of coliforms and E. coli bioaerosols from the poultry farm warrants further investigation. These data will help inform bioaerosol sampling techniques which can be used for the quantification of bacterial foodborne pathogens and indicator organisms for future research.


Assuntos
Aerossóis , Microbiologia do Ar , Fazendas , Aves Domésticas , Salmonella , Escherichia coli Shiga Toxigênica , Animais , Bovinos , Salmonella/isolamento & purificação , Escherichia coli Shiga Toxigênica/isolamento & purificação , Escherichia coli/isolamento & purificação , Contagem de Colônia Microbiana , Enterobacteriaceae/isolamento & purificação
2.
Biomedica ; 44(1): 102-107, 2024 03 31.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-38648350

RESUMO

Introduction. The first neonatal screening program in Colombia ­ PREGEN ­ was set up in the medical private sector of Bogotá in 1988. We report the results from recent years that, given the scarcity of similar information in our country, may help estimate the frequency of the evaluated neonatal disorders and which ones should be included in the neonatal screening programs in our country. Objective. To describe the results of PREGEN´s newborn screening program between 2006 and 2019. Materials and methods. We analyzed databases and other informative documents preserved in PREGEN from the 2006-2019 period. Results. One in every 164 newborns screened in our program had an abnormal hemoglobin variant, and one in every 194 carried some hemoglobin S variant. Glucose-6- phosphate dehydrogenase deficiency and congenital hypothyroidism are next as the more common disorders. Conclusions. Abnormal hemoglobin causes the most frequent monogenic disorder in the world. Glucose-6-phosphate dehydrogenase deficiency is the most common enzymopathy affecting nearly 400 million individuals worldwide. Since both disorders are more common in people of African descent and confer some resistance to malaria, we believe that screening for both disorders may be more relevant in the areas with African ancestry in our country.


Introducción. En Colombia, el primer programa de tamizaje neonatal, PREGEN, inició labores en el sector privado de Bogotá en 1988. En este artículo se presentan los resultados obtenidos en los últimos años, que, dada la carencia de estos estudios en el país, pueden servir para evaluar la frecuencia de aparición de los trastornos congénitos evaluados y estimar cuáles de ellos deben ser objeto de tamizaje neonatal a nivel nacional. Objetivos. Reportar los resultados del programa de tamizaje PREGEN entre el 2006 y el 2019. Materiales y métodos. Para este análisis se examinaron las bases de datos y otros documentos informativos de PREGEN para el periodo 2006-2019. Resultados. Uno de cada 164 recién nacidos tamizados en el programa PREGEN en Bogotá presentó una variante anormal de la hemoglobina y uno de cada 194 es portador de hemoglobina S. Los siguientes dos trastornos más frecuentes encontrados fueron la deficiencia de la enzima glucosa-6-fosfato deshidrogenasa (frecuencia 1:2.231) y el hipotiroidismo congénito (frecuencia 1:3.915). Conclusiones. Las hemoglobinopatías mostraron ser uno de los desórdenes monogénicos más comunes, seguidos por la deficiencia de glucosa-6-fosfato deshidrogenasa y el hipotiroidismo congénito. Se calcula que cerca de 400 millones de personas en el mundo están afectadas por la deficiencia de glucosa-6-fosfato deshidrogenasa, por lo cual es la enzimopatía más común en el mundo. Como ambos desórdenes son más frecuentes en poblaciones de origen africano y confieren algún grado de resistencia a la malaria, es de prever que su tamizaje debe ser de mayor importancia en las zonas con ancestros africanos en Colombia.


Assuntos
Deficiência de Glucosefosfato Desidrogenase , Triagem Neonatal , Colômbia/epidemiologia , Humanos , Recém-Nascido , Deficiência de Glucosefosfato Desidrogenase/diagnóstico , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Deficiência de Glucosefosfato Desidrogenase/genética , Setor Privado , Hipotireoidismo Congênito/diagnóstico , Hipotireoidismo Congênito/epidemiologia , Anemia Falciforme/diagnóstico , Anemia Falciforme/epidemiologia , Hemoglobinopatias/diagnóstico , Hemoglobinopatias/epidemiologia
3.
Ophthalmol Retina ; 8(2): 163-173, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37714431

RESUMO

PURPOSE: To characterize the largest cohort of individuals with retinol dehydrogenase 12 (RDH12)-retinal dystrophy to date, and the first one from South America. DESIGN: Retrospective multicenter international study. SUBJECTS: Seventy-eight patients (66 families) with an inherited retinal dystrophy and biallelic variants in RDH12. METHODS: Review of clinical notes, ophthalmic images, and molecular diagnosis. MAIN OUTCOME MEASURES: Visual function, retinal imaging, and characteristics were evaluated and correlated. RESULTS: Thirty-seven individuals self-identified as Latino (51%) and 34 as White (47%). Sixty-nine individuals (88%) had Leber congenital amaurosis (LCA)/early-onset severe retinal dystrophy. Macular and midperipheral atrophy were seen in all patients from 3 years of age. A novel retinal finding was a hyperautofluorescent ring in 2 young children with LCA. Thirty-nine patients (50%) had subsequent visits, with mean follow-up of 6.8 ± 7.3 (range, 0-29) years. Eight variants (21%) were previously unreported, and the most frequent variant was c.295C>A, p.Leu99Ile, present in 52 alleles of 32 probands. Individuals with LCA homozygous for p.Leu99Ile (31%) had a later age of onset, a slower rate of best-corrected visual acuity decrease, the largest percentage of patients with mild visual impairment, and were predicted to reach legal blindness at an older age than the rest of the cohort. CONCLUSIONS: By describing the largest molecularly confirmed cohort to date, improved understanding of disease progression was possible. Our detailed characterization aims to support research and the development of novel therapies that may have the potential to reduce or prevent vision loss in individuals with RDH12-associated retinal dystrophy. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures.


Assuntos
Oftalmopatias Hereditárias , Amaurose Congênita de Leber , Distrofias Retinianas , Criança , Humanos , Pré-Escolar , Mutação , Distrofias Retinianas/diagnóstico , Distrofias Retinianas/genética , Retina , Oftalmopatias Hereditárias/diagnóstico , Amaurose Congênita de Leber/genética , Cegueira , Oxirredutases do Álcool/genética
4.
Sci Total Environ ; 885: 163884, 2023 Aug 10.
Artigo em Inglês | MEDLINE | ID: mdl-37142011

RESUMO

Preharvest agricultural water has been recognized as one of the routes of contamination for foodborne pathogens during fruit and vegetable production. Several strategies have been proposed to reduce the risk of pathogens, including preharvest water chemigation, but literature is lacking with regards to microbiological inactivation of common bacterial foodborne pathogens associated with fresh produce contamination, Salmonella enterica, Shiga-toxigenic Escherichia coli (STEC), and Listeria monocytogenes, in surface irrigation water after exposure to chlorine and peracetic acid (PAA). Surface water supplied by a local irrigation district was collected over the summer of 2019. Water was autoclaved, divided into 100 mL samples, and inoculated with a cocktail of five Salmonella, STEC, or Listeria monocytogenes strains or a single strain non-pathogenic E. coli. Samples were then treated with 3, 5, or 7 ppm of free chlorine or PAA, and surviving populations were evaluated using a time-kill assay. A first-order kinetic model was used to fit the inactivation data and obtain the D-values. A secondary model was used to explain the changes due to the type of water, treatment, and microorganism. At a concentration of 3 ppm, the observed and predicted D-values of free chlorine treatments were higher than that of PAA treatments for ground and surface water. Results indicated that PAA was more effective inactivating bacteria than sodium hypochlorite at concentrations of 3 and 5 ppm for both water sources (surface and ground). However, at 7 ppm, the effectiveness of PAA and sodium hypochlorite showed no statistically significant difference for both surface and groundwater. Findings will provide information regarding efficacy of chemical sanitizers like chlorine and PAA for inactivation of Salmonella, Listeria, and STEC in surface water from which treatments can be derived. Ultimately benefitting growers in the selection of an appropriate method for in-field treatment of irrigation water if deemed necessary.


Assuntos
Desinfetantes , Escherichia coli O157 , Listeria monocytogenes , Escherichia coli Shiga Toxigênica , Ácido Peracético/farmacologia , Cloro/farmacologia , Água , Desinfetantes/farmacologia , Hipoclorito de Sódio/farmacologia , Microbiologia de Alimentos , Contagem de Colônia Microbiana , Salmonella , Cloretos
5.
Biomedica ; 41(3): 388-395, 2021 09 22.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-34559486

RESUMO

The malattia leventinese is an autosomal dominant inherited disease whose symptoms appear between the second and fourth decades of life. It is characterized by the appearance of drusen located between the retinal pigment epithelium and the Bruch membrane. It is usually associated with low vision and may progress to blindness. The pathogenic variant p.Arg345Trp in the EFEMP1 gene has been associated with this disease. We characterized clinically and molecularly a family with malattia leventinese using a comprehensive approach that involved ophthalmologists, pediatricians, and geneticists. This approach is of great importance since the phenotype of this disease is often confused with acular degeneration. All family members underwent ophthalmological evaluation and DNA extraction from a peripheral blood sample. All exons of the EFEMP1 gene were amplified and sequenced. The pathogenic variant p.Arg345Trp was identified in affected individuals in this family. This is the first report of malattia leventinese in a family with the p.Arg345Trp pathogenic variant in Colombia. The molecular diagnosis of retinal dystrophies is essential to differentiate this type of pathology.


La malattia leventinese es una enfermedad hereditaria autosómica dominante, cuyos síntomas se inician entre la segunda y la cuarta décadas de la vida. Se caracteriza por la aparición de drusas localizadas entre el epitelio pigmentario de la retina y la membrana de Bruch; suele reducir la visión drásticamente y progresar a ceguera. La variante patogénica p.Arg345Trp en el gen EFEMP1 se ha asociado con esta enfermedad. Se presenta aquí la caracterización clínica y molecular de una familia con malattia leventinese mediante un manejo integral que involucró a oftalmólogos, pediatras y genetistas, lo que es de gran importancia, ya que el fenotipo de esta enfermedad suele confundirse con la degeneración macular. A todos los individuos de la familia se les hizo la evaluación oftalmológica con imágenes diagnósticas de retina y extracción de ADN a partir de una muestra de sangre periférica. Todos los exones del gen EFEMP1 se amplificaron y secuenciaron. La variante patogénica p.Arg345Trp se identificó en los individuos afectados. Este es el primer reporte de malattia leventinese en una familia con la variante patogénica p.Arg345Trp en Colombia. El diagnóstico molecular de las distrofias retinianas es fundamental para diferenciar este tipo de enfermedades.


Assuntos
Drusas do Disco Óptico , Drusas Retinianas , Colômbia , Proteínas da Matriz Extracelular/genética , Humanos , Drusas do Disco Óptico/congênito
6.
Biomédica (Bogotá) ; 41(3): 388-395, jul.-set. 2021. tab, graf
Artigo em Espanhol | LILACS | ID: biblio-1345389

RESUMO

Resumen La malattia leventinese es una enfermedad hereditaria autosómica dominante, cuyos síntomas se inician entre la segunda y la cuarta décadas de la vida. Se caracteriza por la aparición de drusas localizadas entre el epitelio pigmentario de la retina y la membrana de Bruch; suele reducir la visión drásticamente y progresar a ceguera. La variante patogénica p.Arg345Trp en el gen EFEMP1 se ha asociado con esta enfermedad. Se presenta aquí la caracterización clínica y molecular de una familia con malattia leventinese mediante un manejo integral que involucró a oftalmólogos, pediatras y genetistas, lo que es de gran importancia, ya que el fenotipo de esta enfermedad suele confundirse con la degeneración macular. A todos los individuos de la familia se les hizo la evaluación oftalmológica con imágenes diagnósticas de retina y extracción de ADN a partir de una muestra de sangre periférica. Todos los exones del gen EFEMP1 se amplificaron y secuenciaron. La variante patogénica p.Arg345Trp se identificó en los individuos afectados. Este es el primer reporte de malattia leventinese en una familia con la variante patogénica p.Arg345Trp en Colombia. El diagnóstico molecular de las distrofias retinianas es fundamental para diferenciar este tipo de enfermedades.


Abstract The malattia leventinese is an autosomal dominant inherited disease whose symptoms appear between the second and fourth decades of life. It is characterized by the appearance of drusen located between the retinal pigment epithelium and the Bruch membrane. It is usually associated with low vision and may progress to blindness. The pathogenic variant p.Arg345Trp in the EFEMP1 gene has been associated with this disease. We characterized clinically and molecularly a family with malattia leventinese using a comprehensive approach that involved ophthalmologists, pediatricians, and geneticists. This approach is of great importance since the phenotype of this disease is often confused with macular degeneration. All family members underwent ophthalmological evaluation and DNA extraction from a peripheral blood sample. All exons of the EFEMP1 gene were amplified and sequenced. The pathogenic variant p.Arg345Trp was identified in affected individuals in this family. This is the first report of malattia leventinese in a family with the p.Arg345Trp pathogenic variant in Colombia. The molecular diagnosis of retinal dystrophies is essential to differentiate this type of pathology.


Assuntos
Distrofias Retinianas , Retina , Epitélio Pigmentado da Retina , Degeneração Macular
7.
J Matern Fetal Neonatal Med ; 33(1): 16-23, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29852806

RESUMO

Objectives: To assess the periodontal condition as a factor associated with adverse perinatal outcomes, premature rupture of membranes (PRM), and preeclampsia in low-income pregnant women treated at public hospitals in Bogotá, Colombia.Methods: Pregnant women with preterm birth (PTB) and low birth weight (LBW) or both conditions (n = 107/428), or only PTB (n = 73/292) or LBW (n = 74/296) or with PRM (n = 98/392) or preeclampsia (n = 76/304) in a ratio of four controls for each case, coming from three hospitals of the public Northern Network of Bogotá, Colombia were studied. Sociodemographic, perinatal adverse outcome history, antenatal care, chronic infections, periodontal condition, threatened abortion, bleeding in the second half of pregnancy, oligohydramnios, diabetes, gestational diabetes, alcohol consumption, hypertension, smoking, alcohol during pregnancy were determined. Logistic regression was conducted to establish factors associated to perinatal adverse outcomes. Multiple correspondence analysis was conducted as secondary analysis.Results: Threatened abortion, absence of antenatal care, hypertension, chronic infections, and periodontal condition were the most important factors associated with perinatal adverse outcomes. The presence of periodontal pockets was associated with LBW OR 2.52 (IC95% 1.36-4.70), PTB OR 2.04 (IC95% 1.10-3.64), PTB-LBW or both OR 2.08 (IC95% 1.18-3.31), PRM OR 2.04 (IC95% 1.17-3.56). Periodontal pockets presence was not associated with preeclampsia. Multiple correspondence analyses showed high correlation between PRM with chronic infection and presence of periodontal pockets.Conclusions: Periodontal condition is a factor independent of other important risk factors for a perinatal adverse outcome and PRM. Prevention of periodontal disease should be included in preconception and prenatal care programs.


Assuntos
Ruptura Prematura de Membranas Fetais/epidemiologia , Doenças Periodontais/epidemiologia , Complicações na Gravidez/epidemiologia , Resultado da Gravidez/epidemiologia , Nascimento Prematuro/epidemiologia , Adulto , Estudos de Casos e Controles , Colômbia/epidemiologia , Feminino , Ruptura Prematura de Membranas Fetais/etiologia , Humanos , Recém-Nascido de Baixo Peso , Recém-Nascido , Doenças do Recém-Nascido/epidemiologia , Doenças Periodontais/complicações , Pobreza/estatística & dados numéricos , Gravidez , Nascimento Prematuro/etiologia , Cuidado Pré-Natal/estatística & dados numéricos , Fatores de Risco , Fatores Socioeconômicos , Adulto Jovem
8.
rev. udca actual. divulg. cient ; 22(2): e1320, Jul-Dic. 2019. tab, graf
Artigo em Espanhol | LILACS-Express | LILACS | ID: biblio-1094810

RESUMO

RESUMEN Las fresas son frutas altamente perecederas, susceptibles a daño mecánico, deterioro y desórdenes fisiológicos durante su almacenamiento. La aplicación de recubrimientos, se presenta como una alternativa promisoria de tratamiento poscosecha, que permite mantener la calidad de las fresas. El objetivo de esta investigación fue estudiar el efecto de recubrimientos comestibles de sábila (A. vera) y alginato de sodio sobre parámetros de calidad de fresas, durante el almacenamiento refrigerado. Se evaluaron mezclas de recubrimientos comestibles de alginato de sodio y A. vera (100:0, 75:25, 50:50 y 25:75) sobre la pérdida de peso, color, firmeza, pH y acidez titulable de fresas, durante almacenamiento refrigerado (0, 3 ,9 y 12 días). Adicionalmente, se determinó el espesor y la opacidad de las películas obtenidas a partir de las soluciones formadoras de recubrimientos, utilizando el método de "casting". Los resultados mostraron que la combinación de A. vera y alginato de sodio tiene un efecto significativo en la reducción de pérdida de calidad de fresa, durante el almacenamiento en refrigeración. Todos los tratamientos con recubrimientos comestibles presentaron, al final del almacenamiento, menor pérdida de peso (7-16%), mayor firmeza (entre 1,3 a 2,1 veces más), mayor retención del color y mayor acidez titulable que las muestras sin recubrimiento (control). El espesor de las películas disminuyó con el incremento de la adición de Aloe vera y la opacidad disminuyó significativamente con la adición de la sábila en 25% y 50% en las mezclas con alginato de sodio.


ABSTRACT Strawberries are highly perishable fruits, being susceptible to mechanical injury, decay and physiological disorders during storage. Applications of edible coatings have been shown to be promising as a tool to improve the quality and extend storage. The aim of this study was to evaluate the use of Aloe vera and sodium alginate as an edible coating in postharvest quality of cold storage strawberries. The composition of edible coatings of sodium alginate and A. vera (100: 0, 75:25, 50:50 and 25:75) was studied on weight loss, color, firmness, pH and titrable acidity of strawberries during refrigerated storage (0, 3, 9 and 12 days). The thickness and opacity of the films were also determined, from the coating forming solutions using the casting method. The short shelf life and the high deterioration of the quality characteristics of strawberries during postharvest, justify to investigate alternative conservation techniques such as edible coatings, in order to reduce food loss and improve consumer acceptance The results showed that the combination of Aloe vera and sodium alginate has a significant effect in the reduction of the loss of the quality of the fruit during refrigerated storage. All coating treatments showed at the end of storage less weigth loss (7-16%), greater firmness, (between 1,3 to 2,1 more times) more color retention and greater titrable acidity tan uncoated samples (Control). The addition of Aloe vera decreased the thickness of the films and the opacity decreased significantly with the addition of Aloe vera in 25 and 50% in the mixtures with sodium Alginate.

9.
Int J Pediatr Otorhinolaryngol ; 122: 76-81, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-30978473

RESUMO

OBJECTIVE: To describe the results from the hearing screening protocol adopted in a Hospital in Colombia emphasizing the importance of performing screening on an outpatient basis, when the newborn is more than 24 h old. METHODS: A prospective study at Hospital Universitario San Ignacio in Bogota, Colombia was carried out, from May 1st, 2016 to Nov 30th, 2017, the study sample included 2.088 newborns examined using transient otoacoustic emissions. RESULTS: We obtained written consent from the parents of 1.523 newborns and 24 individuals (1.6%) failed the first stage of the screening, nine cases unilateral and 15 bilateral. A total of nine neonates (0,6%) failed the second screening test, six cases unilateral and three bilateral. Four (0,3%) did not return to the second test. Our false altered screening rate was 0.7%. CONCLUSIONS: In a developing country with limited human and economic resources, in which newborn early discharge is the norm, a newborn hearing screening program linked to infants' check-ups, that uses otoacoustic emissions after 48 h of life, seems a feasible option compare to the standard US protocol aiming to conduct hearing screening prior to discharge.


Assuntos
Países em Desenvolvimento , Perda Auditiva Bilateral/diagnóstico , Perda Auditiva Unilateral/diagnóstico , Triagem Neonatal/métodos , Assistência Ambulatorial , Colômbia , Feminino , Testes Auditivos , Hospitais , Humanos , Recém-Nascido , Masculino , Emissões Otoacústicas Espontâneas , Estudos Prospectivos
10.
Taiwan J Ophthalmol ; 9(4): 243-248, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31942429

RESUMO

BACKGROUND/PURPOSE: Age-related macular degeneration (AMD) is the leading cause of visual impairment in patients over 55 years. Currently, the most common therapies for neovascular AMD (nAMD) are intravitreal antiangiogenics. Studies suggest that genetic factors influence on antiangiogenics therapy outcomes. The purpose of this work was to establish the association between complement factor H (CFH) (Y402H), age-related maculopathy susceptibility 2 (ARMS2) (A69S), and high-temperature requirement factor A1 (HTRA1) (rs11200638) polymorphisms and the response to treatment with ranibizumab in patients with nAMD. METHODS: A cross-sectional study with 61 eyes with nAMD treated with ranibizumab was performed. Association between polymorphisms from CFH, ARMS2, and HTRA1 with the response to treatment was established. RESULTS: The mean age of patients was 76.6 (51-91) years. Only 37.7% of patients had a functional response and 26.2% had an anatomic response. TT polymorphism Y402H from CFH gene was associated with an increased likelihood of functional response to treatment. Otherwise, there was not a statistically significant association between anatomic and functional response to gene polymorphisms rs11200638 from HTRA1 and rs10490924 from ARMS 2. CONCLUSIONS: This study suggests that the response to intravitreal antiangiogenic therapy with ranibizumab was not associated to main polymorphisms from genes HTRA1 and ARMS2. However, it was found that the response to treatment differed according to CFH genotype, suggesting that further investigations are needed to establish if patients with the CC and TC genotype may need to be monitored more closely for disease recurrence than the TT genotype.

11.
Atherosclerosis ; 277: 434-439, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-30270082

RESUMO

BACKGROUND AND AIMS: Familial hypercholesterolemia (FH) is characterized by elevated serum cholesterol levels due to high low-density lipoprotein (LDL) cholesterol levels. FH is an autosomal dominant genetic disorder and one of the most common dominant hereditary diseases in the world. However, the frequency of mutations in Colombia is unknown. The purpose of this preliminary study was to identify mutations in the LDL receptor (LDLR) gene in a Colombian population with FH. METHODS: The study included 24 families with clinical diagnosis of sure/probable FH. The 18 exons of the LDLR were sequenced by Sanger method. RESULTS: Among 18 variants identified, 3 were known pathogenic mutations and were identified in nine individuals in five unrelated families. Five affected individuals were heterozygous for one mutation each. They were the p.W4X in two, the p.D139G in two and the p.G396D in one. Two affected individuals were homozygous for p.G396D. The variant c.1187-1G > T, which has uncertain significance in FH pathogenesis, was present in all the individuals with the p.D139G mutation. CONCLUSIONS: In total, 18 variants were identified, of which 14 correspond to known nonpathogenic variants. Three pathogenic variants were identified in the LDLR. No pathological mutations were identified in the LDLR in 79% of the study population.


Assuntos
LDL-Colesterol/sangue , Análise Mutacional de DNA , Hiperlipoproteinemia Tipo II/genética , Mutação , Receptores de LDL/genética , Adolescente , Adulto , Idoso , Anticolesterolemiantes/uso terapêutico , Biomarcadores/sangue , Colômbia , Quimioterapia Combinada , Feminino , Predisposição Genética para Doença , Hereditariedade , Heterozigoto , Homozigoto , Humanos , Hiperlipoproteinemia Tipo II/sangue , Hiperlipoproteinemia Tipo II/diagnóstico , Hiperlipoproteinemia Tipo II/tratamento farmacológico , Masculino , Pessoa de Meia-Idade , Taxa de Mutação , Linhagem , Fenótipo , Dados Preliminares , Adulto Jovem
12.
Rev. salud bosque ; 3(2): 17-22, 2013. tab
Artigo em Espanhol | LILACS | ID: lil-772955

RESUMO

El propósito de este estudio es evaluar la composición química de tres cementos: Portland tipo I (CEMEX Samper , Cundinamarca, Colombia), Portland tipo I (CEMEX-Diamante, Ibagué, Colombia) y ProRoot MTA (Dentsply-Maillefer, Ballaigues, Suiza). Se utilizó una muestra probabilística de 17 pastillas para cada tipo de cemento. El análisis se llevó a cabo con la microsonda EDAX (Mahwah, NJ, USA) del microscopio de barrido electrónico SEM FEI (Quanta 200, Hillsboro, Oregon USA), bajo condiciones estandarizadas de lectura de las muestras. Se hicieron cuatro lecturas por muestra, para un subtotal de 68 lecturas por cada tipo de cemento y un total de 208 lecturas. Los resultados se obtuvieron en porcentaje de peso sólido por elemento. Los datos generales fueron analizados por las pruebas ANOVA, comparaciones múltiples de Tukey y t de Student. Se observaron tres elementos comunes entre los tres cementos: Ca, Si y Al, pero se encontraron diferencias estadísticamente significativas de los elementos comunes entre el cemento ProRoot MTA y los cementos Portland I. El Bi solo se encontró en el ProRoot MTA y el S solo se encontró en los cementos Portland tipo I. Se concluye que la composición de los tres cementos es similar. Sin embargo, es necesario evaluar el impacto que puede tener, tanto la presencia de S en los cementos Portland I, como la diferencia de concentraciones de los elementos que fueron comunes en los tres cementos en cuanto a biocompatibilidad y efectividad clínica.


The objective of this study is to evaluate the chemical composition of three cements: Portland Type I (CEMEXSamper , Cundinamarca, Colombia), Portland Type I (CEMEX-Diamante, Ibague, Colombia) and Pro Root MTA (Dentsply-Maillefer, Ballaigues, Switzerland). A probabilistic sample of 17 tablets for each type of cement was used. The analysis was carried out with energy dispersive analysis with x-rays (EDAX) (Mahwah, NJ, USA) in the scanning electron microscope (SEM) FEI (Quanta 200, Hillsboro, Oregon, USA) under standard sample reading conditions. Four readings per sample were carried out for a total of 68 readings per cement, and a grand total of 208 readings. The results were obtained as a percentage of solid weight per element. General data was analyzed with the ANOVA test, and Tukey and t of Student multiple comparison tests. Three common elements were observed between the three cements: Ca, Si, and Al, but there were significant statistical differences between the common elements of the ProRoot MTA and the Portland cements I. The Bi was found only in the ProRoot MTA, and the S only in the Portland type I cements. It can be concluded then that the composition of the three cements is similar; however, it is necessary to evaluate the impact that the presence of S in the Portland I cements as well as the difference in concentrations of the three common elements may have in the biocompatibility and clinical effectiveness.


Assuntos
Fenômenos Químicos/métodos , Cemento Dentário/química , Ortodontia , Tratamento do Canal Radicular , Colômbia
13.
Rev. salud bosque ; 1(2): 7-14, 2011. tab, ilus
Artigo em Espanhol | LILACS | ID: lil-779436

RESUMO

Objetivo: comparar la adaptación marginal In Vitro de incrustaciones MOD con terminación en esmalte fabricadas con IPS e.max CAD (Computer Asisted Desing) y fabricadas en oro tipo III. Materiales y métodos: En este estudio experimental exploratorio se uso una muestra no probabilística de 15 premolares sanos por cada uno de los dos grupos; IPS e.max CAD y oro tipo III.A todos los premolares se les realizó cavidades MOD estandarizadas para los 2 grupos. Los dientes preparados fueron asignados aleatoriamente a cada grupo. Las incrustaciones del grupo IPS e.max CAD fueron elaboradas con el sistema CEREC 3 y las incrustaciones en oro fueron elaboradas por los investigadores. Se tomaron estereo microfotografías de todas las muestras sobre papel milimetrado, y las imágenes fueron analizadas mediante el programa ImageTool. Se tomaron tres medidas adaptación marginal en el área proximal mesial o distal de cada muestra, que fueron promediadas y reportadas en micras. Los datos fueron analizados mediante ANOVA y Test de Mann-Whitney. Resultados: el 98% del total de las incrustaciones en oro y el 47% del total de las incrustaciones de IPS e.max CAD presentaron una adaptación marginal < a 120 micras. El promedio de desadaptación marginal del grupo IPS e.max CAD fue 122.8 μ + 44.1, mientras que para el grupo oro fue de 75.3 μ+42,6 encontrándose diferencias estadísticamente significativas entre los dos. Conclusiones: El oro reporta mejor adaptación marginal en restauraciones inlays MOD que los sistemas maquinados como el sistema IPS e.max CAD.


Objective: To compare In Vitro, the marginal adaptation of MOD fillings with an enamel finish manufactured with IPS e.max CAD (Computer Assisted Design) and those manufactured with gold type III. Materials and methods: In this exploratory experimental study, a non-probabilistic sample of 15 healthy premolars for each of the two groups (IPS e.max CAD and gold type III) was used. Standardized MOD cavities were made in all the premolars for both groups. The prepared teeth were randomly assigned to each group. The IPS e.max CAD fillings were made using the CEREC 3 system and the gold fillings were made by the researchers. Stereo microphotographs of all the samples were taken on millimeter paper and the images were analyzed using the Image Tool software. Three marginal adaptation measurements in the mesial proximal or distal area were taken for every sample; they were averaged and reported in microns. The data was analyzed using ANOVA and the Mann-Whitney test. Results: 98% of all the gold fillings and 47% of all the IPS e.max CAD fillings showed a marginal adaptation of less than or equal to 120 microns. The marginal unfitness average for the IPD e.max CAD group was 122.8 + 44.1 μm, and for the gold fillings group it was 75.3 + 42.6 μm. There was a statistically significant differences between the groups. Conclusions: Gold reports a better marginal adaptation for inlay MOD fillings than manufactured systems like IPS e.max CAD system.


Assuntos
Humanos , Adaptação Marginal Dentária , Estética Dentária , Restaurações Intracoronárias , Restauração Dentária Permanente
14.
CES odontol ; 21(1): 71-75, ene. 2008.
Artigo em Espanhol | LILACS | ID: lil-562345

RESUMO

La postura del cuerpo definitivamente es un factor esencial en el desarrollo de las funciones orales y en la etiología de las parafunciones. Existen conexiones nerviosas y anatómicas que hacen que desequilibrios en la postura, pueden generar alteraciones en el sistema estomatognático y viceversa. En esta revisión de literatura, se describen dichas conexiones, la influencia de la postura sobre las funciones bucales fisiológicas y la manera objetiva de medir la postura de una forma viable para el odontólogo.


The body posture is an essential factor in the development of the oral functions and in the etiology of the parafunctions. There are anatomical and nervous connections that make the body and jaw position to influence the activity of the cervical muscles and viceversa. This literature review, describes those connections, the influence of the posture on the physiological oral functions and the objective way to measure the posture so the dentists could do it in the daily practice.


Assuntos
Postura , Postura/fisiologia , Sistema Estomatognático , Anormalidades do Sistema Estomatognático
15.
Retina ; 25(1): 69-74, 2005 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-15655444

RESUMO

PURPOSE: To describe the clinical findings and outcome for three homozygous females affected with X-linked retinoschisis (XLRS) in a large Colombian family with 26 affected males. METHODS: Retrospective review of charts for females from a family with XLRS who underwent complete ophthalmologic examinations, ancillary tests, clinical genetic evaluation, and molecular studies. RESULTS: Three female patients (6 eyes) with clinical findings of XLRS were identified. The patients' ages ranged from 10 to 37 years. Initial visual acuity was equal to or worse than 20/50 in 4 eyes (66%) of 2 patients. Four eyes (66%) were hyperopic. Intraocular pressure was normal in all eyes. Three eyes (50%) had cataracts, and vitreous veils were present in 3 (50%). The optic disk was pale in 6 eyes (100%). Foveal schisis was present in 6 eyes (100%). Peripheral retinal schisis was present in five eyes. A silvery gloss or tapetal-like retinal reflex or sheen was observed in 6 eyes (100%), and dendritic lines were found in 2 (33%). One eye had a retinal break, and one had a retinal detachment. Two eyes underwent cataract extraction; one patient underwent bilateral cryotherapy, one, laser treatment, and one, scleral buckling. Final visual acuity was 20/50 to 20/100 in 2 eyes and 20/200 to 20/400 in 4. Follow-up ranged from 7 to 22 years. Molecular analysis showed that all three female patients were homozygous for the allele 639delG of (on) the XRLS1 gene. CONCLUSIONS: Compared with their affected male relatives, three females from a family with XLRS had similar ocular findings and a more severe course of disease. These findings are explained by the fact that these patients were homozygous for a mutation in the XLRS1 gene.


Assuntos
Retinosquise/genética , Retinosquise/patologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Catarata/genética , Catarata/terapia , Extração de Catarata , Criança , Pré-Escolar , Crioterapia , Proteínas do Olho/genética , Feminino , Ligação Genética , Genótipo , Humanos , Pressão Intraocular , Fotocoagulação a Laser , Masculino , Pessoa de Meia-Idade , Linhagem , Fenótipo , Descolamento Retiniano/genética , Descolamento Retiniano/cirurgia , Estudos Retrospectivos , Recurvamento da Esclera , Acuidade Visual
16.
Rev. cient. (Bogotá) ; 9(1): 19-28, ene.-jun. 2003. tab, graf
Artigo em Espanhol | LILACS | ID: lil-386013

RESUMO

La población interna del centro de reclusión estudiado por sus condiciones de vida, se encuentran expuestas a diferentes factores que desencadenan patologías orales, por tal motivo se llevo a cabo un estudio epidemiológico de prevalencia de caries dental y enfermedad periodontal y se exploraron factores de riesgo asociados a estas patologías con el fin de presentar estos resultados a la institución gubernamental pertinente con el propósito de implementar acciones preventivas para esta población. Se evaluaron un total 114 internas voluntarias a quienes se les realizó un examen clínico para evaluar la historia y su severiadad por medio del índice COP y la prevalencia de enfermedad periodontal y necesidades de tratamiento por medio del índice de Ramfjord con adaptación de criterios del índice de criterios del índice de Extención y Severidad (ESI) y el índice INTCP y se aplicó una encuesta para explorar factores de riesgo para estas dos patologías. Se observó una alta prevalencia de caries y perdidas de inserción periodontal en relación a la observada en la población general. De gran interés se encontró en este estudio una asociación estadísticamente significativas entre enfermedad periodontal y el consumo de sustancias psicoactivas(marihuna). Los resultados de este estudio sustentan la nesecidad de implementar programas de atención y de promoción y de prevención específicos para esta población ya que presentan unas características especiales que la hace mas bunerables a factores de riesgos por su condiciones de vida.


Assuntos
Cárie Dentária
17.
Rev. cient. (Bogotá) ; 9(1): 44-52, ene.-jun. 2003.
Artigo em Espanhol | LILACS | ID: lil-386014

RESUMO

El propósito de este estudio fue describir el modelo de toma de decisiones y los riesgos que perciben los usuarios en el momento de elejir el servicio odontológico en los estratos del uno al seis en Santafé de Bogotá. Se relizó un estudio cualitativo de diseño evaluativo con una muestra de 288 usuarios, de los cuales se aplicó la técnica de grupos focales, utilizando cuatro estrategias cuyos resultados fueron analizados por medio de cuatro técnicas interpretativas.


Assuntos
Técnicas de Apoio para a Decisão
18.
Rev. cient. (Bogotá) ; 8(1): 11-18, ene.-dic. 2002. ilus, tab
Artigo em Espanhol | LILACS | ID: lil-385946

RESUMO

Las técnicas más usadas para la evaluación de los implantes son: radiografía periapical y radiografía de imagen digital. La radiografía periapical aunque presenta un porcentaje de distorción, es la técnica más usada por su facilidad técnica y económica para la detección de patologías periodontales, perdidas óseas y lesiones periapicales, al igual que en pérdida osea perrimplantar. El objetivo de este estudio fue diseñar y validar un posicionador de película para la estandarización de radiografías periapicales seriadas en la evaluación longitudinal de implantes dentales.


Assuntos
Implantes Dentários , Osseointegração , Doenças Periodontais , Radiografia
20.
Rev. cient. (Bogotá) ; 5(1/2): 98-100, ene.-dic. 1999.
Artigo em Espanhol | LILACS | ID: lil-385844

RESUMO

La investigación en la Facultad de Odontología de la Universidad El Bosque se concibe como un proceso dinámico que guía el currículo y está en una coherente relación con la misión de la Universidad. Desde sus inicios la UNIVERSIDAD EL BOSQUE integró el proceso investigativo al currículo de la facultad a través del área comunitaria siendo esta área la encargada de integrar los conocimientos adquiridos en el área Bioclínica y Psicosocial, de tal manera, que el proceso investigativo debía guiarse a la solución de los problemas de la comunidad. A través del tiempo se vio la necesidad de establecer líneas de investigación y el desarrollo de grupos de investigación al interior de la facultad y es así como las diferentes áreas han ido estableciendo sus líneas basadas en el perfil epidemiológico de la salud oral y los factores sociales, psicológicos y biológicos que se asocian en los modelos multifactoriales del proceso salud-enfermedad.


Assuntos
Avaliação Educacional , Pesquisa em Odontologia/tendências , Grupos de Autoajuda
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA