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Background: Cystic fibrosis (CF) is a serious autosomal recessive disorder. Early diagnosis, comorbidity prevention, and control are cornerstones for a quality life and for improving life expectancy. In Colombian Caribbean, where there is a genetically admixed population, CF is an orphan disease affecting children and adults, and it remains a challenging issue to be addressed carefully. This work describes the genetic, clinical, and paraclinical profiles of CF patients from Cartagena de Indias, Colombia. Methods: Thirty-six patients were included in the study. The subjects were identified and evaluated through the Regional Program for CF patients. CFTR gene mutations, anthropometric parameters, microbiological infections, and pulmonary function were analyzed. Data on demographic parameters, pharmacological treatments, and comorbidities were reported. Frequency and percentages were established for the categorical variables and mean or median for the quantitative variables. In addition, comparisons were made by sex. Results: The average age of the patients was 11.9 ± 5.3 years and the median age at diagnosis was 14 months. 55.5% were women and 44.5% were men. The mean values for weight, height, and body mass index were 35 ± 17.6 kg, 139.9 ± 28 cm, and 16.5 ± 2.9 kg/m2, respectively. The clinical manifestations that occurred more frequently were steatorrhea (65.4%) and recurrent pneumonia (46.2%). Chronic airway infection with Pseudomonas aeruginosa was identified in 71.4% of the cases and the p.F508del mutation was found in 47.2% of the subjects. Conclusion: The current profile of CF patients from the Colombian Caribbean showed some concerning features, such as nutritional status; however, progress in early diagnosis and clinical follow-up could contribute to improve the general conditions of patients. It is necessary to continue efforts to increase the life expectancy and quality of life of the patients.
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Background: Fat Mass and Obesity-related (FTO) has been one of the genes consistently related to common obesity. Single nucleotide polymorphisms (SNPs) in FTO have been linked with the IRX3 gene. Aim: This study was designed by testing the hypothesis that: i) common SNPs in FTO and IRX3 are associated with obesity and related disorders; ii) there is significant linkage disequilibrium between both genes. Methods: A cross-sectional study was carried out on the Colombian Caribbean Coast. Anthropometric and biochemical variables were measured, and obesity and metabolic disorders were diagnosed. Four SNPs were genotyped: 3 at FTO locus (rs17817449, rs8050136, rs9939609) and one at IRX3 locus (rs3751723). LD between these SNPs was estimated. A logistic regression model was applied to estimate associations. Results: A total of 792 subjects were included. FTO and IRX3 were not in LD (D'≤ 0.03; R2≤ 0.03). TT genotype (rs9939609) was found to be associated with waist circumference (p= 0.04; adj-p= 0.01), and IRX3 SNP with Body Weight Excess (BWE) (OR= 1.06, adj-p= 0.03). One FTO-IRX3 haplotype was associated with BWE (G-A-A-T, rs17817449-rs8050136-rs9939609-rs3751723; OR= 0.67, p= 0.04). The statistical significance of these relations continued after admixture adjustment for a three-hybrid population (p= 0.03). Conclusions: FTO was related to waist circumference, and IRX3 was associated with BWE in Latin American adults. This relation remained statistically significant after an adjustment for sex, age, and genetic ancestry was performed. Despite that these genes were not in LD, findings of a haplotype involving FTO-IRX3 suggest a gene-gene interaction associated with an increased risk of BWE.
Introducción: FTO (Fat Mass and Obesity-related) se ha relacionado de manera consistente con la obesidad. Recientemente, Polimorfismos de Nucleótido Único (SNP) en este gen se han relacionado con el gen IRX3. Objetivo: Probar la hipótesis de que: i) SNPs en FTO e IRX3 están asociados con la obesidad y trastornos relacionados; ii) existe desequilibrio de ligamiento (LD) significativo entre ambos genes. Métodos: se realizó un estudio transversal en la costa caribe colombiana. Se valoraron variables antropométricas y bioquímicas, la obesidad y trastornos metabólicos. Se genotipificaron 4 SNPs: 3 en FTO (rs17817449, rs8050136, rs9939609) y uno en IRX3 (rs3751723). Se estimó el LD entre estos SNPs. Se aplicó un modelo de regresión logística para estimar asociaciones. Resultados: Se incluyeron 792 sujetos. FTO e IRX3 no se encontraron en LD (D' ≤0.03; R2 ≤0.03). El genotipo TT (rs9939609) se encontró asociado con la circunferencia de la cintura (p= 0.04; adj-p= 0.01), y el SNP IRX3 con el Exceso de Peso (EP) (OR= 1.06, adj-p= 0.03). Se encontró un haplotipo FTO-IRX3 asociado con EP (G-A-A-T, rs17817449-rs8050136-rs9939609-rs3751723; OR= 0.67, p= 0.04). Esta asociación persistió después del ajuste para una población mixta (p= 0.03). Conclusiones: FTO se encontró asociado con la circunferencia de la cintura e IRX3 con EP en adultos latinoamericanos. Estas asociaciones persistieron tras el ajuste por sexo, edad y ascendencia genética. Aunque estos genes no estaban en LD, los hallazgos de un haplotipo entre FTO-IRX3 sugieren una interacción gen-gen asociada con un mayor riesgo de EP.
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Dioxigenasa FTO Dependiente de Alfa-Cetoglutarato , Proteínas de Homeodominio , Enfermedades Metabólicas , Obesidad , Factores de Transcripción , Adulto , Humanos , Dioxigenasa FTO Dependiente de Alfa-Cetoglutarato/genética , Peso Corporal , Estudios Transversales , Proteínas de Homeodominio/genética , América Latina/epidemiología , Enfermedades Metabólicas/genética , Obesidad/genética , Factores de Transcripción/genéticaRESUMEN
Arabidopsis thaliana shows a wide range of natural genetic variation in light responses. Shade avoidance syndrome is a strategy of major adaptive significance that includes seed germination, elongation of vegetative structures, leaf hyponasty, and acceleration of flowering. Previously, we found that the southernmost Arabidopsis accession, collected in the south of Patagonia (Pat), is hyposensitive to light and displays a reduced response to shade light. This work aimed to explore the genetic basis of the shade avoidance response (SAR) for hypocotyl growth by QTL mapping in a recently developed 162 RIL population between Col-0 and Pat. We mapped four QTL for seedling hypocotyl growth: WL1 and WL2 QTL in white light, SHADE1 QTL in shade light, and SAR1 QTL for the SAR. PHYB is the strongest candidate gene for SAR1 QTL. Here we studied the function of two polymorphic indels in the promoter region, a GGGR deletion, and three non-synonymous polymorphisms on the PHYB coding region compared with the Col-0 reference genome. To decipher the contribution and relevance of each PHYB-Pat polymorphism, we constructed transgenic lines with single or double polymorphisms by using Col-0 as a reference genome. We found that single polymorphisms in the coding region of PHYB have discrete functions in seed germination, seedling development, and shade avoidance response. These results suggest distinct functions for each PHYB polymorphism to the adjustment of plant development to variable light conditions.
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Abstract Background: Fat Mass and Obesity-related (FTO) has been one of the genes consistently related to common obesity. Single nucleotide polymorphisms (SNPs) in FTO have been linked with the IRX3 gene. Aim: This study was designed by testing the hypothesis that: i) common SNPs in FTO and IRX3 are associated with obesity and related disorders; ii) there is significant linkage disequilibrium between both genes. Methods: A cross-sectional study was carried out on the Colombian Caribbean Coast. Anthropometric and biochemical variables were measured, and obesity and metabolic disorders were diagnosed. Four SNPs were genotyped: 3 at FTO locus (rs17817449, rs8050136, rs9939609) and one at IRX3 locus (rs3751723). LD between these SNPs was estimated. A logistic regression model was applied to estimate associations. Results: A total of 792 subjects were included. FTO and IRX3 were not in LD (D'≤ 0.03; R2≤ 0.03). TT genotype (rs9939609) was found to be associated with waist circumference (p= 0.04; adj-p= 0.01), and IRX3 SNP with Body Weight Excess (BWE) (OR= 1.06, adj-p= 0.03). One FTO-IRX3 haplotype was associated with BWE (G-A-A-T, rs17817449-rs8050136-rs9939609-rs3751723; OR= 0.67, p= 0.04). The statistical significance of these relations continued after admixture adjustment for a three-hybrid population (p= 0.03). Conclusions: FTO was related to waist circumference, and IRX3 was associated with BWE in Latin American adults. This relation remained statistically significant after an adjustment for sex, age, and genetic ancestry was performed. Despite that these genes were not in LD, findings of a haplotype involving FTO-IRX3 suggest a gene-gene interaction associated with an increased risk of BWE.
Resumen Introducción: FTO (Fat Mass and Obesity-related) se ha relacionado de manera consistente con la obesidad. Recientemente, Polimorfismos de Nucleótido Único (SNP) en este gen se han relacionado con el gen IRX3. Objetivo: Probar la hipótesis de que: i) SNPs en FTO e IRX3 están asociados con la obesidad y trastornos relacionados; ii) existe desequilibrio de ligamiento (LD) significativo entre ambos genes. Métodos: se realizó un estudio transversal en la costa caribe colombiana. Se valoraron variables antropométricas y bioquímicas, la obesidad y trastornos metabólicos. Se genotipificaron 4 SNPs: 3 en FTO (rs17817449, rs8050136, rs9939609) y uno en IRX3 (rs3751723). Se estimó el LD entre estos SNPs. Se aplicó un modelo de regresión logística para estimar asociaciones. Resultados: Se incluyeron 792 sujetos. FTO e IRX3 no se encontraron en LD (D' ≤0.03; R2 ≤0.03). El genotipo TT (rs9939609) se encontró asociado con la circunferencia de la cintura (p= 0.04; adj-p= 0.01), y el SNP IRX3 con el Exceso de Peso (EP) (OR= 1.06, adj-p= 0.03). Se encontró un haplotipo FTO-IRX3 asociado con EP (G-A-A-T, rs17817449-rs8050136-rs9939609-rs3751723; OR= 0.67, p= 0.04). Esta asociación persistió después del ajuste para una población mixta (p= 0.03). Conclusiones: FTO se encontró asociado con la circunferencia de la cintura e IRX3 con EP en adultos latinoamericanos. Estas asociaciones persistieron tras el ajuste por sexo, edad y ascendencia genética. Aunque estos genes no estaban en LD, los hallazgos de un haplotipo entre FTO-IRX3 sugieren una interacción gen-gen asociada con un mayor riesgo de EP.
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OBJECTIVES: To describe the changes in diet quality in Colombians using nationally representative samples from the 2005 and 2015 nutrition surveys. METHODS: Repeated cross-sectional analyses of the National Nutrition Surveys from 2005 and 2015. Children (4-17 y.o.) and adults (≥ 18 y.o.) were included. The Alternative Healthy-Eating Index (AHEI) was derived from 24-h recall questionnaires and used to examine diet quality. RESULTS: A total of 33,971 participants (20,122 children, 13,849 adults) were included in 2005, and 26,445 participants (15,304 children, 11,141 adults) in 2015. Over the ten-year period, the AHEI decreased from 46.3 to 44.3 in children (Cohen's d = 0.19) and from 49.0 to 46.2 in adults. (Cohen's d = 0.25). On average, those in the highest socioeconomic level had the worst diet quality; however, the difference between the less and most affluent groups shrank by 4.0% over the observation period. CONCLUSIONS: Between 2005 and 2015, there was a worsening in the diet quality of Colombian children and adults. Less affluent individuals had a greater worsening of diet quality compared to groups from higher socioeconomic levels.
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Dieta Saludable/estadística & datos numéricos , Dieta Saludable/tendencias , Dieta/estadística & datos numéricos , Dieta/tendencias , Encuestas Nutricionales/estadística & datos numéricos , Encuestas Nutricionales/tendencias , Estado Nutricional , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Preescolar , Colombia , Estudios Transversales , Femenino , Predicción , Humanos , Masculino , Persona de Mediana Edad , Vigilancia de la Población , Encuestas y Cuestionarios , Adulto JovenRESUMEN
Resumen: Introducción: La diabetes mellitus es una patología de alta prevalencia, con mayor morbimortalidad en el paciente quirúrgico, tanto por la hipo como la hiperglicemia. Objetivos. Determinar si el control metabólico glicémico cumple las recomendaciones internacionales. Metodología: Se realizó un estudio descriptivo de todos los pacientes internados en áreas quirúrgicas. Se analizaron todas las glicemias capilares registradas en la historia clínica. Resultados : Se captaron 34 pacientes (predomina sexo masculino y con diabetes mellitus tipo 2), 21 fueron sometidos a una intervención quirúrgica, la mortalidad fue del 6%. La glicemia promedio fue superior a la recomendada internacionalmente, constituye episodios de hiperglicemia. Asimismo, se detectó la presencia de hipoglicemia. Conclusiones: Es deseable establecer estrategias para optimizar el control metabólico en la población con diabetes mellitus internada en áreas quirúrgicas.
Abstract: Introduction: Diabetes mellitus is a highly prevalent pathology, with higher morbidity and mortality in the surgical patient, both due to hypo and hyperglycemia. Goals. Determine if glycemic metabolic control meets international recommendations. Methodology: A descriptive study of all patients admitted to surgical areas was carried out. All capillary blood glucose levels recorded in the clinical history were analyzed. Results: 34 patients were captured (predominantly male and with type 2 diabetes mellitus), 21 underwent surgical intervention, mortality was 6%. The average glycemia was higher than the internationally recommended, it constitutes episodes of hyperglycemia. Likewise, the presence of hypoglycemia was detected. Conclusions: It is desirable to establish strategies to optimize metabolic control in the population with diabetes mellitus admitted to surgical areas.
Resumo: Introdução: O diabetes mellitus é uma patologia de alta prevalência, com maior morbimortalidade no paciente cirúrgico, tanto por hipo quanto por hiperglicemia. Metas. Determine se o controle metabólico glicêmico atende às recomendações internacionais. Metodologia: Foi realizado um estudo descritivo de todos os pacientes admitidos em áreas cirúrgicas. Todos os níveis de glicose no sangue capilar registrados na história clínica foram analisados. Resultados: 34 pacientes foram capturados (predominantemente do sexo masculino e com diabetes mellitus tipo 2), 21 foram submetidos a intervenção cirúrgica, a mortalidade foi de 6%. A média da glicemia foi superior ao recomendado internacionalmente, constituindo episódios de hiperglicemia. Da mesma forma, foi detectada a presença de hipoglicemia. Conclusões: É desejável estabelecer estratégias para otimizar o controle metabólico na população com diabetes mellitus admitida em áreas cirúrgicas.
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In this study, a restoration process was developed with potassium hydroxide (KOH), in order to improve each of the structures for their posterior fixation, through the use of new methods such as the Chilean conservative fixative solution (SFCCh), with exceptional results. Restore anatomical pieces corresponding to corpse and organs, being these last set with the SFCCh. In this work dealt with processes of restoration with potassium hydroxide, sodium chloride, and sodium hypochlorite, the process began with the cleanliness and suture of the structures for subsequent fixing in Chilean conservative fixative solution, making use of a corpse and different anatomical parts. Work based on items found in the database, Elsevier, Science Direct, ProQuest, and MEDLINE. At the end of the process of restoration and conservation of the anatomical pieces, was observed an improvement in muscle pigment with decrease of rigidity in the specimen, additionally a recovery of appearance in the vascular-nervous elements was achieved. The organs were much more malleable and the structures facilitate the identification of specific details, its subsequent immersion in SFCCh allows the longer preservation of the obtained results. The restoration with potassium hydroxide allows the improvement in the appearance of the different anatomical structures and simultaneously to facilitate its study. The SFCCh is an alternative that replaces partially the use of formaldehyde. In addition, it presents toxicity reduction.
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Resumen Objetivo: Estimar la asociación del consumo de alcohol y tabaco con el sobrepeso y la obesidad. Material y métodos: Se llevó a cabo un estudio de corte transversal. Se registraron los antecedentes de consumo de alcohol (gr/día) y tabaco (paquetes/año). El índice de masa corporal fue empleado para definir obesidad. La asociación fue estimada por regresión logística y la obesidad fue la variable respuesta. Resultados: Se incluyeron 675 sujetos. Los bebedores activos correspondieron al 68.4 %, y los fumadores fueron el 20.6 %. La frecuencia de sobrepeso y obesidad fue 41.1 y 18.5 %, respectivamente. El consumo de alcohol estuvo asociado con sobrepeso y obesidad (OR = 1.1, IC95 % [1.01-1.21], p = 0.02). El hábito de fumar no mostró asociación significativa (OR = 0.91, IC95 % [0.83-1.00], p = 0.06). Conclusiones: El consumo de alcohol estuvo asociado con el exceso de peso, mientras que el hábito de fumar aumentó el riesgo de obesidad en sujetos con sobrepeso.
Abstract Objective: Objective: to estimate the association of alcohol drinking and smoking with overweight and obesity. Material and Methods: A cross-sectional study was carried out. History of alcohol (gr/day) and tobacco (packs/year) consumption was registered. Body Mass Index was employed for overweight and obesity definition. Associations were estimated through logistic regression and a regression tree was applied. Results: A total of 675 subjects were included. Current-drinkers were 68.4% of total simple and current-smokers were 20.6%. Overweight and obesity frequencies were 41.1 and 18.5%, respectively. Alcohol consumption was associated to overweight and obesity (OR=1.1, p=0.02). There were no significant associations with smoking. Conclusions: Alcohol drinking was found to be associated with higher body weight excess, while smoking facilitates obesity development in overweight subjects.
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Abstract Background: Caveolin 1 gene (CAV1) has been associated with insulin resistance, metabolic syndrome and hypertension in humans. Also, it has been related to high serum triglycerides in rodents, however there is little evidence of this relation in humans. Aim: To describe frequencies of common variations in CAV1 in adults with high serum triglycerides. Methods: A case-control study was carried out with adults from Colombian Caribbean Coast. A whole blood sample was employed to measure serum concentrations of triglycerides, glucose, total cholesterol and HDLc. Six common Single Nucleotide Polymorphism (SNP) in CAV1 were genotyped (rs926198, rs3779512, rs10270569, rs11773845, rs7804372 and rs1049337). Allelic and genotypic frequencies were determined by direct count and Hardy-Weinberg Equilibrium (HWE) was assessed. Case and control groups were compared with null-hypothesis tests. Results: A total of 220 cases and 220 controls were included. For rs3779512 an excess in homozygotes frequency was found within case group (40.4% (GG), 41.3% (GT) and 18.1% (TT); Fis=0.13, p=0.03). Another homozygotes excess among case group was found in rs7804372 (59.5% (TT), 32.3% (TA) and 8.2% (AA); Fis= 0.12, p= 0.04). In rs1049337, cases also showed an excess in homozygotes frequency (52.7% (CC), 35.0% (CT) and 12.3% (TT); Fis= 0.16, p= 0.01). Finally, for rs1049337 there were differences in genotype distribution between case and control groups (p <0.05). Conclusion: An increased frequency of homozygote genotypes was found in subjects with high serum triglycerides. These findings suggest that minor alleles for SNPs rs3779512, rs7804372 and rs1049337 might be associated to higher risk of hypertriglyceridemia.
Resumen Introducción: En humanos, el gen Caveolina 1 (CAV1) ha sido asociado con resistencia a la insulina, síndrome metabólico e hipertensión. Además, ha sido relacionado con hipertrigliceridemia en roedores, sin embargo existe poca evidencia de esta relación en humanos. Objetivo: Describir la frecuencia de variaciones comunes del gen CAV1 en adultos con hipertrigliceridemia. Métodos: Se realizó un estudio de casos y controles con adultos del Caribe Colombiano. Fue usada una muestra de sangre venosa periférica para medir las concentraciones séricas de triglicéridos, glucosa, colesterol total y colesterol HDL. Fueron genotipificados seis Polimorfismos de Nucleótido Simple (SNP) en CAV1 (rs926198, rs3779512, rs10270569, rs11773845, rs7804372 y rs1049337). Las frecuencias alélicas y genotípicas se determinaron por conteo directo y se evaluó el equilibrio de Hardy-Weinberg. Los grupos de casos y controles se compararon con pruebas de hipótesis nula. Resultados: Se incluyeron un total de 220 casos y 220 controles. Para rs3779512 se encontró un exceso de homocigotos en el grupo de casos (40.4% (GG), 41.3% (GT) y 18.1% (TT); Fis= 0.13, p= 0.03). Fue encontrado otro exceso de homocigotos en el grupo de casos al analizar el rs7804372 (59.5% (TT), 32.3% (TA) y 8.2% (AA); Fis= 0.12, p= 0.04). En rs1049337, los casos también tuvieron un exceso en la frecuencia de homocigotos (52.7% (CC), 35.0% (CT) y 12.3% (TT); Fis= 0.16, p= 0.01). Finalmente, hubo diferencias en la distribución genotípica del rs1049337 entre los grupos de casos y controles (p <0.05). Conclusiones: Se encontró una elevada frecuencia de homocigotos en los sujetos con hipertrigliceridemia. Estos hallazgos sugieren que los alelos menores de los SNPs rs3779512, rs7804372 y rs1049337 podrían estar asociados con trigliceridemia elevada.
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Adulto , Femenino , Humanos , Masculino , Persona de Mediana Edad , Triglicéridos/sangre , Hipertrigliceridemia/epidemiología , Predisposición Genética a la Enfermedad , Caveolina 1/genética , Hipertrigliceridemia/genética , Estudios de Casos y Controles , Estudios Transversales , Colombia , Polimorfismo de Nucleótido Simple , Alelos , GenotipoRESUMEN
BACKGROUND: Adiponectin is a hormone secreted by adipose tissue. It regulates glycolysis and lipolysis and is involved in the pathophysiology of diabetes and related disorders. Its activity is mainly mediated by the transmembrane receptors AdipoR1 and AdipoR2, which are encoded by ADIPOR1 (1q32.1) and ADIPOR2 (12p13.33) genes, respectively. In genetic association studies, single nucleotide polymorphisms (SNPs) in or near these genes have been associated with metabolic alterations. However, these relationships are still controversial. AIM: The aim of this work was to analyze possible associations between ADIPOR1/2 and diabetes and other metabolic disorders. METHODS: A genetic association study was carried out in an admixed Latin American population. A sample of 200 adults was analyzed. Clinical and serum-biochemical characteristics were measured to diagnose obesity, abdominal obesity, hypertension, hyperglycemia, hypertriglyceridemia, low HDLc, insulin resistance (HOMA-IR), and diabetes. Three SNPs were genotyped in ADIPOR1 (rs10494839, rs12733285, and rs2275737) and ADIPOR2 (rs11061937, rs11612383, and rs2286383). For the association analysis, an additive model was assessed through logistic regression. An admixture adjustment was performed using a Monte-Carlo-Markov-Chain method, assuming a three-hybrid substructure (k = 3). RESULTS: Two SNPs in ADIPOR1 were associated with diabetes: rs10494839 (OR = 3.88, adjusted p < 0.03) and rs12733285 (OR = 4.72, adjusted p < 0.03). Additionally, rs10494839 was associated with hypertriglyceridemia (OR = 2.16, adjusted p < 0.01). None of the SNPs in ADIPOR2 were associated with metabolic disorders. CONCLUSIONS: ADIPOR1 was consistently associated with diabetes and hypertriglyceridemia. This association was maintained even after adjusting for genetic stratification. There were no significant associations involving ADIPOR2.
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Diabetes Mellitus Tipo 2/genética , Hipertrigliceridemia/genética , Receptores de Adiponectina/genética , Adiponectina , Diabetes Mellitus Tipo 2/epidemiología , Humanos , Hipertrigliceridemia/epidemiología , Resistencia a la Insulina , América Latina/epidemiología , Polimorfismo de Nucleótido SimpleRESUMEN
Water-related diseases are closely linked with drinking water, sanitation, and hygiene (WASH) indicators, socioeconomic status, education level, or dwelling's conditions. Developing countries exhibit a particular vulnerability to these diseases, especially rural areas and urban slums. This study assessed socioeconomic features, WASH indicators, and water-related diseases in two rural areas of the Colombian Caribbean coast. Most of this population did not finish basic education (72.3%, N = 159). Only one of the communities had a water supply (aqueduct), whereas the other received water via an adapted tanker ship. No respondents reported sewage services; 92.7% (N = 204) had garbage service. Reported cases of diarrhea were associated with low education levels (P = 2.37 × 10-9) and an unimproved drinking water supply (P = 0.035). At least one fever episode was reported in 20% (N = 44) of dwellings, but the cases were not related to any indicator. The Aedes/House index (percentage of houses that tested positive for Aedes larvae and/or pupae) was 69%, the container index (percentage of water-holding containers positive for Aedes larvae or pupae) 29.4%, and the Breteau index (number of positive containers per 100 houses in a specific location) was three positive containers per 100 inspected houses. The presence of positive containers was associated with the absence of a drinking water supply (P = 0.04). The community with poorer health indicators showed greater health vulnerability conditions for acquisition of water-related diseases. In summary, water supply and educational level were the main factors associated with the presence of water-related diseases in both communities.
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Escolaridad , Fiebre/epidemiología , Abastecimiento de Agua , Enfermedades Transmitidas por el Agua/epidemiología , Adulto , Aedes , Anciano , Animales , Región del Caribe/epidemiología , Niño , Colombia/epidemiología , Estudios Transversales , Agua Potable/microbiología , Femenino , Conocimientos, Actitudes y Práctica en Salud , Humanos , Insectos Vectores , Larva , Masculino , Persona de Mediana Edad , Salud Pública/educación , Pupa , Población Rural , Adulto JovenRESUMEN
BACKGROUND: Caveolin 1 gene (CAV1) has been associated with insulin resistance, metabolic syndrome and hypertension in humans. Also, it has been related to high serum triglycerides in rodents, however there is little evidence of this relation in humans. AIM: To describe frequencies of common variations in CAV1 in adults with high serum triglycerides. METHODS: A case-control study was carried out with adults from Colombian Caribbean Coast. A whole blood sample was employed to measure serum concentrations of triglycerides, glucose, total cholesterol and HDLc. Six common Single Nucleotide Polymorphism (SNP) in CAV1 were genotyped (rs926198, rs3779512, rs10270569, rs11773845, rs7804372 and rs1049337). Allelic and genotypic frequencies were determined by direct count and Hardy-Weinberg Equilibrium (HWE) was assessed. Case and control groups were compared with null-hypothesis tests. RESULTS: A total of 220 cases and 220 controls were included. For rs3779512 an excess in homozygotes frequency was found within case group (40.4% (GG), 41.3% (GT) and 18.1% (TT); Fis=0.13, p=0.03). Another homozygotes excess among case group was found in rs7804372 (59.5% (TT), 32.3% (TA) and 8.2% (AA); Fis= 0.12, p= 0.04). In rs1049337, cases also showed an excess in homozygotes frequency (52.7% (CC), 35.0% (CT) and 12.3% (TT); Fis= 0.16, p= 0.01). Finally, for rs1049337 there were differences in genotype distribution between case and control groups (p <0.05). CONCLUSION: An increased frequency of homozygote genotypes was found in subjects with high serum triglycerides. These findings suggest that minor alleles for SNPs rs3779512, rs7804372 and rs1049337 might be associated to higher risk of hypertriglyceridemia.
INTRODUCCIÓN: En humanos, el gen Caveolina 1 (CAV1) ha sido asociado con resistencia a la insulina, síndrome metabólico e hipertensión. Además, ha sido relacionado con hipertrigliceridemia en roedores, sin embargo existe poca evidencia de esta relación en humanos. OBJETIVO: Describir la frecuencia de variaciones comunes del gen CAV1 en adultos con hipertrigliceridemia. MÉTODOS: Se realizó un estudio de casos y controles con adultos del Caribe Colombiano. Fue usada una muestra de sangre venosa periférica para medir las concentraciones séricas de triglicéridos, glucosa, colesterol total y colesterol HDL. Fueron genotipificados seis Polimorfismos de Nucleótido Simple (SNP) en CAV1 (rs926198, rs3779512, rs10270569, rs11773845, rs7804372 y rs1049337). Las frecuencias alélicas y genotípicas se determinaron por conteo directo y se evaluó el equilibrio de Hardy-Weinberg. Los grupos de casos y controles se compararon con pruebas de hipótesis nula. RESULTADOS: Se incluyeron un total de 220 casos y 220 controles. Para rs3779512 se encontró un exceso de homocigotos en el grupo de casos (40.4% (GG), 41.3% (GT) y 18.1% (TT); Fis= 0.13, p= 0.03). Fue encontrado otro exceso de homocigotos en el grupo de casos al analizar el rs7804372 (59.5% (TT), 32.3% (TA) y 8.2% (AA); Fis= 0.12, p= 0.04). En rs1049337, los casos también tuvieron un exceso en la frecuencia de homocigotos (52.7% (CC), 35.0% (CT) y 12.3% (TT); Fis= 0.16, p= 0.01). Finalmente, hubo diferencias en la distribución genotípica del rs1049337 entre los grupos de casos y controles (p <0.05). CONCLUSIONES: Se encontró una elevada frecuencia de homocigotos en los sujetos con hipertrigliceridemia. Estos hallazgos sugieren que los alelos menores de los SNPs rs3779512, rs7804372 y rs1049337 podrían estar asociados con trigliceridemia elevada.
Asunto(s)
Caveolina 1/genética , Predisposición Genética a la Enfermedad , Hipertrigliceridemia/epidemiología , Triglicéridos/sangre , Adulto , Alelos , Estudios de Casos y Controles , Colombia , Estudios Transversales , Femenino , Genotipo , Humanos , Hipertrigliceridemia/genética , Masculino , Persona de Mediana Edad , Polimorfismo de Nucleótido SimpleRESUMEN
Introducción: La patología tumoral (PT) implica una morbimortalidad no despreciable después del trasplante renal, siendo la inmunosupresión un factor de riesgo potencialmente responsable de su desarrollo. El objetivo de nuestro estudio es determinar la prevalencia de malignidad durante el trasplante y estudiar su posible asociación con el uso de anticuerpos antilinfocitarios, infección por citomegalovirus y el antecedente de rechazo agudo. Métodos: Se trata de un estudio de cohorte, retrospectivo, en 1034 receptores de trasplante renal en el que se revisaron los eventos tumorales acontecidos entre abril de 1981 y marzo de 2010. Se consignaron el uso de anticuerpos antilinfocitarios (AAL), infección por CMV y episodios de rechazo agudo (RA), relacionando estas variables con el desarrollo posterior de patología tumoral. Resultados: NO se detectó mayor frecuencia de PT maligna en aquellos que recibieron AAL (13,8% vs. 17,6%, p=0,094) p=0,094). No hubo mayor frecuencia de PT en pacientes con infección por CMV (16,3% vs. 15,2%, p=0,69). Por último, hubo mayor frecuencia de PT en aquellos con antecedentes de RA, si bien con significación limítrofe (19,5% vs. 14,3%, p=0,05). Conclusiones: La patología tumoral maligna se ve potencialmente favorecida por la inmunosupresión cada vez más potente y duradera. No hemos encontrado asociación entre la administración de AAL, infección y / o enfermedad por CMV; si bien esta se ve ligeramente incrementada en aquellos pacientes con el antecedente de RA.
Introduction: Tumoral pathology (TP) implies morbidity which is significant after the renal transplantation; Immunosuppression is a risk factor which is potentially responsible for tumoral development. The aim of our study is to determine the prevalence of malignancy during transplantation and to study its possible relation with the usage of antillymphocvte antibodies, cytomegalovirus infection and the history of acute rejection. Methods: It is a cohort study, retrospective, in 1014 receptors of Kidney transplantation in which tumoral events were revised between April 1981 and March 2010. The development of tumoral pathology in recipients was related with the usage of AAL, CMV infection and AR episodes. Results: a greater frequency of malign TP was no recorded in those who received AAL (13.8% vs. 17.6%, p=0.094). There was not greater frequency of TP in patients with infection due to CMV (16,3% vs, 15.2%, p=0.69). Finally, there was greater frequency of TP in those with antecedent of AR, though with bordering significance (19.5%, vs. 14.3% p=0.05). Conclusions: Malign tumoral pathology is potentially favored by immunosuppression increasingly powerful lasting. We have not found any relationship between AAL use, infection and/ or disease due to CMV, although this is slightly increased in those patients with AR history.
Asunto(s)
Humanos , Inmunosupresores/efectos adversos , Neoplasias/patología , Trasplante de Riñón , Patología , Trasplante de Riñón/efectos adversos , Trasplante de Riñón/inmunología , Trasplante de Riñón/patologíaRESUMEN
Introducción: La patología tumoral (PT) implica una morbimortalidad no despreciable después del trasplante renal, siendo la inmunosupresión un factor de riesgo potencialmente responsable de su desarrollo. El objetivo de nuestro estudio es determinar la prevalencia de malignidad durante el trasplante y estudiar su posible asociación con el uso de anticuerpos antilinfocitarios, infección por citomegalovirus y el antecedente de rechazo agudo. Métodos: Se trata de un estudio de cohorte, retrospectivo, en 1034 receptores de trasplante renal en el que se revisaron los eventos tumorales acontecidos entre abril de 1981 y marzo de 2010. Se consignaron el uso de anticuerpos antilinfocitarios (AAL), infección por CMV y episodios de rechazo agudo (RA), relacionando estas variables con el desarrollo posterior de patología tumoral. Resultados: NO se detectó mayor frecuencia de PT maligna en aquellos que recibieron AAL (13,8% vs. 17,6%, p=0,094) p=0,094). No hubo mayor frecuencia de PT en pacientes con infección por CMV (16,3% vs. 15,2%, p=0,69). Por último, hubo mayor frecuencia de PT en aquellos con antecedentes de RA, si bien con significación limítrofe (19,5% vs. 14,3%, p=0,05). Conclusiones: La patología tumoral maligna se ve potencialmente favorecida por la inmunosupresión cada vez más potente y duradera. No hemos encontrado asociación entre la administración de AAL, infección y / o enfermedad por CMV; si bien esta se ve ligeramente incrementada en aquellos pacientes con el antecedente de RA.(AU)
Introduction: Tumoral pathology (TP) implies morbidity which is significant after the renal transplantation; Immunosuppression is a risk factor which is potentially responsible for tumoral development. The aim of our study is to determine the prevalence of malignancy during transplantation and to study its possible relation with the usage of antillymphocvte antibodies, cytomegalovirus infection and the history of acute rejection. Methods: It is a cohort study, retrospective, in 1014 receptors of Kidney transplantation in which tumoral events were revised between April 1981 and March 2010. The development of tumoral pathology in recipients was related with the usage of AAL, CMV infection and AR episodes. Results: a greater frequency of malign TP was no recorded in those who received AAL (13.8% vs. 17.6%, p=0.094). There was not greater frequency of TP in patients with infection due to CMV (16,3% vs, 15.2%, p=0.69). Finally, there was greater frequency of TP in those with antecedent of AR, though with bordering significance (19.5%, vs. 14.3% p=0.05). Conclusions: Malign tumoral pathology is potentially favored by immunosuppression increasingly powerful lasting. We have not found any relationship between AAL use, infection and/ or disease due to CMV, although this is slightly increased in those patients with AR history.(AU)
Asunto(s)
Humanos , Neoplasias/patología , Trasplante de Riñón , Inmunosupresores/efectos adversos , Trasplante de Riñón/efectos adversos , Trasplante de Riñón/inmunología , Trasplante de Riñón/patología , PatologíaRESUMEN
BACKGROUND: During last decade the metabolic syndrome has been defined by five different guidelines. Discrepancies in such definitions could influence syndrome predictive ability over cardiovascular diseases. The aim of this study was to determine the degree of agreement between these five guidelines, in population from Cartagena (Colombia). METHODS: A cross sectional study was conducted in adults from urban zone. Sample size was estimated based on 2005 DANE census, which included 670 individuals. The prevalence of metabolic syndrome was determined through the WHO (World Health Organization), AHA/NHLBI (American Heart Association/National Heart Lung and Blood Institute), ATP III (Adult Treatment Panel III), IDF (International Diabetes Federation) and JIS (Joint Interim Statement) guidelines. Frequencies obtained were compared through Cohen's kappa index. RESULTS: According to JIS, IDF, ATPIII, AHA/NHBLI and WHO guidelines, metabolic syndrome prevalence was 36.3% [32.6 - 39.9], 35.1%, 30.3%, 24.2% and 4.9%. Agreement between JIS and IDF was 0.893, while index for these two guidelines with AHA/NHLBI was 0.778 y 0.750, respectively. ATPIII had a lower agreement with JIS and IDF (0.711 and 0.645, respectively), however with AHA/NHLBI agreement was 0.863. WHO presented a agreement with the others guidelines between 0.14 and 0.16. CONCLUSIONS: Significant agreement was found between the four most recent guidelines. Abdominal obesity cut-off points might support differences agreement differences.