Molecular identification of Entamoeba histolytica, E. dispar, and E. moshkovskii in children with diarrhea from Maracaibo, Venezuela / [Identificación molecular de Entamoeba histolytica, Entamoeba dispar y Entamoeba moshkovskii en niños con diarrea en Maracaibo, Venezuela].

Introduction: Entamoeba histolytica is an amebiasis-producing parasite. However, Entamoeba dispar, Entamoeba moshkovskii, and Entamoeba bangladeshi are nonpathogenic amoebae morphologically identical to it and, therefore, molecular techniques are required for their differentiation. Objective: To determine the frequency of Entamoeba species by polymerase chain reaction (PCR) in fecal samples from children under five years with diarrhea from Maracaibo (Venezuela). Materials and methods: A fecal sample per individual was collected from 75 children with diarrhea (case group) and 25 children without diarrhea (control group). Stools were evaluated by microscopic examination, formol-ether concentration method, and nested multiplex PCR in a single round for the identification of E. histolytica, E. dispar, and E. moshkovskii. In addition, a survey was conducted in which demographic data, signs, clinical manifestations, and socioeconomic status were registered. Results: In total, 48% of the children (38 from the case group and 10 from the control group) had intestinal parasites. Only four children presented cysts of the Entamoeba complex in their samples (three from the case group and one from the control group). By means of PCR, nine samples (9%) amplified for the studied amoebae. In the case group, three (28.13%) amplified for E. histolytica, four (30.50%) for E. dispar, and one (9.37%) for E. moshkovskii while only one (25%) sample amplified for E. dispar in the control group. Conclusion: In general, E. dispar predominated. Nevertheless, all those infected with E. histolytica were detected within the group of children with diarrhea and we reported the first case of E. moshkovskii in the region.

Introducción. Las amebas no patógenas Entamoeba dispar, Entamoeba moshkovskii y Entamoeba bangladeshi son morfológicamente idénticas a Entamoeba histolytica, parásito responsable de la amebiasis, por lo cual se necesitan técnicas moleculares para diferenciarlas. Objetivo. Determinar la frecuencia de las diferentes especies de Entamoeba mediante reacción en cadena de la polimerasa (Polymerase Chain Reaction, PCR) en muestras fecales de niños menores de cinco años con diarrea, provenientes de Maracaibo (Venezuela). Materiales y métodos. Se recolectó una muestra fecal por individuo en 75 niños con diarrea (grupo de casos) y en 25 niños sin diarrea (grupo control). Las heces se evaluaron mediante examen microscópico, método de concentración de formól-éter y PCR múltiple anidada en una sola ronda para identificar E. histolytica, E. dispar y E. moshkovskii. Además, se hizo una encuesta en la que se recopilaron los datos demográficos, signos, manifestaciones clínicas y estrato socioeconómico de los niños. Resultados. El 48 % de los participantes (38 del grupo de casos y 10 del grupo de control) tenían enteroparásitos. Solo en las muestras de cuatro de los niños, se encontraron quistes del complejo Entamoeba (tres en el grupo de casos y uno en el de control). Mediante PCR se amplificaron nueve muestras (9 %) para la detección de las amebas estudiadas. En el grupo de casos se registraron tres (28,13 %) de E. histolytica, cuatro (30,50 %) de E. dispar y una (9,37 %) de E. moshkovskii, en tanto que solo una (25 %) muestra amplificó para E. dispar en el grupo de control. Conclusión. En general, predominó E. dispar; sin embargo, todos los infectados con E. histolytica se detectaron en el grupo de niños con diarrea y se detectó el primer caso de E. moshkovskii en la región.

Identificación molecular de Entamoeba histolytica, Entamoeba dispar y Entamoeba moshkovskii en niños con diarrea en Maracaibo, Venezuela / Molecular identification of Entamoeba histolytica, E. dispar, and E. moshkovskii in children with diarrhea from Maracaibo, Venezuela

Resumen | Introducción. Las amebas no patógenas Entamoeba dispar, Entamoeba moshkovskii y Entamoeba bangladeshi son morfológicamente idénticas a Entamoeba histolytica, parásito responsable de la amebiasis, por lo cual se necesitan técnicas moleculares para diferenciarlas. Objetivo. Determinar la frecuencia de las diferentes especies de Entamoeba mediante reacción en cadena de la polimerasa (Polymerase Chain Reaction, PCR) en muestras fecales de niños menores de cinco años con diarrea, provenientes de Maracaibo (Venezuela). Materiales y métodos. Se recolectó una muestra fecal por individuo en 75 niños con diarrea (grupo de casos) y en 25 niños sin diarrea (grupo control). Las heces se evaluaron mediante examen microscópico, método de concentración de formól-éter y PCR múltiple anidada en una sola ronda para identificar E. histolytica, E. dispar y E. moshkovskii. Además, se hizo una encuesta en la que se recopilaron los datos demográficos, signos, manifestaciones clínicas y estrato socioeconómico de los niños. Resultados. El 48 % de los participantes (38 del grupo de casos y 10 del grupo de control) tenían enteroparásitos. Solo en las muestras de cuatro de los niños, se encontraron quistes del complejo Entamoeba (tres en el grupo de casos y uno en el de control). Mediante PCR se amplificaron nueve muestras (9 %) para la detección de las amebas estudiadas. En el grupo de casos se registraron tres (28,13 %) de E. histolytica, cuatro (30,50 %) de E. dispar y una (9,37 %) de E. moshkovskii, en tanto que solo una (25 %) muestra amplificó para E. dispar en el grupo de control. Conclusión. En general, predominó E. dispar; sin embargo, todos los infectados con E. histolytica se detectaron en el grupo de niños con diarrea y se detectó el primer caso de E. moshkovskii en la región.

Abstract | Introduction: Entamoeba histolytica is an amebiasis-producing parasite. However, Entamoeba dispar, Entamoeba moshkovskii, and Entamoeba bangladeshi are non-pathogenic amoebae morphologically identical to it and, therefore, molecular techniques are required for their differentiation. Objective: To determine the frequency of Entamoeba species by polymerase chain reaction (PCR) in fecal samples from children under five years with diarrhea from Maracaibo (Venezuela). Materials and methods: A fecal sample per individual was collected from 75 children with diarrhea (case group) and 25 children without diarrhea (control group). Stools were evaluated by microscopic examination, formol-ether concentration method, and nested-multiplex PCR in a single round for the identification of E. histolytica, E. dispar, and E. moshkovskii. In addition, a survey was conducted in which demographic data, signs, clinical manifestations, and socioeconomic status were registered. Results: In total, 48% of the children (38 from the case group and 10 from the control group) had intestinal parasites. Only four children presented cysts of the Entamoeba complex in their samples (three from the case group and one from the control group). By means of PCR, nine samples (9%) amplified for the studied amoebae. In the case group, three (28.13%) amplified for E. histolytica, four (30.50%) for E. dispar, and one (9.37%) for E. moshkovskii while only one (25%) sample amplified for E. dispar in the control group. Conclusion: In general, E. dispar predominated. Nevertheless, all those infected with E. histolytica were detected within the group of children with diarrhea and we reported the first case of E. moshkovskii in the region.

Association between +45T>G adiponectin polymorphism gene and type 2 diabetes mellitus and metabolic syndrome in a Venezuelan population.

Background: Adiponectin (ADIPOQ) is a hormone primarily synthesized by adipocytes and encoded by the ADIPOQ gene, which exerts anti-inflammatory, antiatheratogenic and insulin sensitizing functions. It has been shown that its plasma concentrations are decreased in individuals with metabolic syndrome (MS) and type 2 diabetes mellitus (DM2), which could be due to variations in the gene coding for this protein. The aim of this study was to detect the +45 T>G polymorphism of the ADIPOQ gene in subjects with DM2 and MS in Maracaibo municipality, Zulia state, Venezuela. Methods: A total of 90 subjects who attended the Center for Metabolic Endocrine Research "Dr. Félix Gómez" were enrolled for this study, 46 of which had MS-DM2 and 44 of which were healthy control individuals. Genomic DNA was extracted from blood samples and PCR-restriction fragment length polymorphism analysis was carried out for the promoter region of the ADIPOQ gene. Likewise, the +45 T> G polymorphism was identified and correlated with MS and DM2 in the studied population. Results: The most frequent allele in both groups was the T allele, and the predominant genotype was homozygous T/T (79%). Genotypes with heterozygous T/G and G/G homozygous polymorphism were more frequent in the control group than in the MS-DM2 group. Regarding the individuals with T/G and G/G genotypes, statistically significant lower mean values ​​were found for fasting glucose, total cholesterol, triacylglycerides, abdominal circumference, and for the medians of systolic and diastolic blood pressure. Odds ratio were calculated for the presence or absence of MS and DM2. Conclusions: The results suggested that the presence of the G allele exerts a protective effect on the carrier individuals, thus avoiding the appearance of the aforementioned metabolic alterations.

Metilación de genes supresores de tumores en pacientes venezolanos con leucemia linfoide aguda / Methylation of tumor suppressor genes in Venezuelan patients with acute lymphoid leukemia

La leucemia linfoide aguda (LLA) es la neoplasia maligna hematológica más común en niños. Se ha podido demostrar un perfil específico de metilación de islas CpG en las regiones promotoras de genes supresores de tumor, que desempeña un papel crítico en el silenciamiento transcripcional y puede ofrecer nuevas opciones de tratamiento. Con el objetivo de determinar este perfil, se analizó el estado de metilación de las islas CpG de la región promotora de cuatros genes supresores de tumor asociados a diferentes etapas del proceso de carcinogénesis, dos p15 y p73 asociados a la regulación del ciclo celular y a la apoptosis y dos E-cadherin y RARβ2, involucrados en la migración y metástasis tumoral. Se analizaron 30 muestras de sangre periférica mediante modificación del ADN con bisulfito sódico y reacción en cadena de la polimerasa específica para metilación y se obtuvo en todos los pacientes, al menos la metilación de un gen (100%) y frecuencias específicas de metilación de 76,67% para el gen p73 (23 pacientes); 56,67% para el p15 (7 pacientes); 16,67% para el E-cadherin (5 pacientes) y 20,0% para el RARβ2 (6 pacientes). La frecuencia de metilación observada en los genes p15 y p73, sugiere el papel importante de esos genes en la patogenia de la LLA y su probable utilidad en el asesoramiento de riesgo y en la selección del tratamiento más adecuado.

Acute lymphocytic leukemia (ALL) is the most common hematologic malignancy in children. A specific methylation profile of CpG islands in the promoter regions of tumor suppressor genes has been demonstrated, which plays a critical role in transcriptional silencing and may offer new treatment options. In order to determine this profile, the methylation status of CpG islands was analyzed in the promoter region of four tumor suppressor genes associated with different stages of carcinogenesis: two associated with the regulation of cell cycle and apoptosis: p15 and p73; and two involved in migration and tumor metastasis: E-cadherin and RARβ2. Thirty peripheral blood samples were analyzed by modification of DNA with sodium bisulfite and chain reaction polymerase specific for methylation. In all patients, the methylation of at least one gene was observed (100%) and additionally, there were specific methylation frequencies of 76.67% for the p73 gene (23 patients); 56.67% for p15 (seven patients); 16.67% for E-cadherin (five patients) and 20.0% for the RARβ2 (six patients). The frequency of methylation observed in p15 and p73 genes suggests the important role of these genes in the pathogenesis of ALL and its usefulness in risk assessment and the selection of the most appropriate treatment.

La resistina se asocia con la proteína C reactiva y marcadores de riesgo cardiovascular en niños obesos / Resistin is associated with C reactive protein and cardiovascular risk markers in obese children / A resistina associa-se à proteína C reativa e aos marcadores de risco cardiovascular em crianças obesas

El objetivo del trabajo fue evaluar los niveles de resistina sérica y su asociación con la proteína C reactiva (PCR-hs), óxido nítrico (NO) y lípidos plasmáticos (LP) en sujetos de edad pediátrica. Participaron 366 niños y adolescentes (10-16 años), agrupados en eutróficos (n=162) y obesos (n=204). Se les estudió peso, talla, circunferencia de la cintura, resistina sérica, glucosa e insulina basal, LP, NO, PCR-hs, malondialdehído y tensión arterial. Se calculó el IMC, el índice cintura-talla (IC/T) y el HOMA-IR. Se utilizaron las pruebas t de Student, ANOVA, U de Mann y Whitney o Kruskal- Wallis para comparar entre grupos y la correlación de Spearman para determinar asociación entre variables. Los obesos masculinos presentaron niveles superiores de resistina (p<0,05). El género femenino presentó valores más altos de resistina en eutróficos (p=0,012) y con IC/T normal (p=0,011). A mayor concentración de resistina los eutróficos presentaron niveles más altos de triacilglicéridos, pero los obesos mostraron niveles más bajos de triacilglicéridos, HDLc y NO, más altos de PCR-hs y mayor IMC. Los resultados sugieren que la resistina podría ser un factor de riesgo para la enfermedad cardiovascular por su asociación positiva con la PCR-hs e inversa con el NO y la HDLc, parámetros involucrados en la inflamación y la disfunción endotelial.

The aim of this study was to evaluate seric levels of resitin and their association with high-sensitivity C Reactive Protein (hs-CRP), nitric oxide (NO) and plasmatic lipids (PL) in a pediatric age population. A total of 366 children and adolescents (between 10-16 years old) participated, and were grouped into eutrophic (n=162) and obese (n=204). Weight, height, waist circumference, resistin, fasting blood glucose and insulin levels, PL, hs-CRP, NO, malondialdehyde and blood pressure were measured. BMI, waist to height ratio (W/HR) and HOMA-IR were calculated. T-student, ANOVA, Mann-Whitney U-value or Kruskal-Wallis were used to compare between groups and Spearman correlation was used to determine association among variables. Male obese subjects showed higher resistin levels (p<0.05). Female subjects showed higher resistin values in the eutrophic group (p=0.012) and in the normal W/HR (p=0.011). At higher levels of resistin, the eutrophic group showed higher levels of triacylglycerides, but the obese group showed lower triacylglycerides, HDLc and NO levels and higher hs-CRP levels and BMI. These results suggest that resistin could be a risk factor for cardiovascular disease because of its positive association with hs-CRP and inverse association with NO and HDLc, parameters involved in inflammation and endothelial dysfunction.

O objetivo da pesquisa foi avaliar os níveis séricos de resistina sérica e sua associação com a proteína C-reativa (PCR-hs), óxido nítrico (NO) e lipídios plasmáticos (LP) em crianças e adolescentes. O estudo envolveu 366 crianças e adolescentes (10-16 anos), agrupados em eutróficos (n=162) e obesos (n=204). Os sujeitos foram estudados em relação ao peso, altura, circunferência da cintura, resistina sérica, glicose e insulina basal, LP, NO, PCR-hs, malondialdeído e pressão arterial. Os IMC, índice cintura-altura (IC/A) e HOMA-IR foram calculados. Foram utilizados os Testes t de Student, ANOVA, U de Mann e Whitney ou Kruskal-Wallis para comparar entre os grupos e a correlação de Spearman para verificar a associação entre variáveis. Os obesos masculinos mostraram níveis mais elevados de resistina (p<0,05). O sexo feminino apresentou valores mais altos de resistina em eutróficos (p=0,012) e com IC/T normal (p=0,011). À maior concentração de resistina, os eutróficos apresentaram maiores níveis de triacilglicerídeos, mas os obesos apresentaram níveis mais baixos de triacilglicerídeos, HDLc e NO, mais altos de PCR-hs e maior IMC. Os resultados sugerem que a resistina poderia ser um fator de risco para a doença cardiovascular devido à sua associação positiva com a PCR-hs e inversa com o NO e a HDLc, parâmetros envolvidos na inflamação e disfunção endotelial.

Dyslipidemia: Genetics, lipoprotein lipase and HindIII polymorphism.

The direct link between lipid metabolism alterations and the increase of cardiovascular risk are well documented. Dyslipidemias, including isolated high LDL-c or mixed dyslipidemia, such as those seen in diabetes (hypertriglyceridemia, high LDL-c or low HDL-c), correlate with a significant risk of cardiovascular and cerebrovascular disease worldwide.  This review analyzes the current knowledge concerning the genetic basis of lipid metabolism alterations, emphasizing lipoprotein lipase gene mutations and the HindIII polymorphism, which are associated with decreased levels of triglycerides and LDL-c, as well as higher levels of HDL-c. These patterns would be associated with decreased global morbidity and mortality, providing protection against cardiovascular and cerebrovascular diseases.

Dislipidemia mixta severa en población pediátrica: enfoque diagnóstico y terapéutico. A propósito de un caso / Severe mixed dyslipidemia in pediatric population: Diagnosis and treatment. About a case

Objetivo: Dar a conocer una presentación atípica de dislipidemia mixta severa en población pediátrica y su abordaje diagnóstico y terapéutico. Caso Clínico: Escolar femenina de 7 años de edad, quien es referida por presentar suero lactescente, evidenciado al realizarle pruebas de laboratorio. Examen físico: talla, peso e índice de masa corporal en percentil 50, hepatomegalia palpable no dolorosa. Paraclínicos de ingreso: glucemia 114 mg/dl, colesterol: 166 mg/dl y triglicéridos: 1200 mg/ dl. Electroforesis: se evidencia VLDL y quilomicrones. Se hace diagnóstico de hiperlipoproteinemia tipo V, se inicia tratamiento con modificación de estilo de vida y ácidos omega 3, 1500 mg/día. Persisten niveles elevados de triglicéridos y aumenta el colesterol, por lo que se omite el omega 3 y se indica tratamiento con ezetimiba 10 mg y ciprofibrato 50 mg diarios. El estudio genético evidenció una variante intrónica G/C en el intrón 7 para el gen de PPARα, correlacionándose con un riesgo elevado de hipertrigliceridemia y mutación del exón 4 del gen del receptor de LDL, por lo que se modifica el diagnóstico a dislipidemia mixta con elevación de VLDL, quilomicrones y LDL. La evolución actual ha sido satisfactoria. Conclusión: Las hiperlipidemias primarias son un grupo de patologías con frecuencia variables de acuerdo a los diferentes fenotipos presentes. El diagnóstico diferencial es importante para descartar una causa secundaria. La electroforesis y el estudio genético orientan al diagnóstico, y el tratamiento debe ser individualizado dependiendo de la clínica del paciente, los niveles de lípidos plasmáticos y los factores de riesgos asociados.

Objective: To present an atypical presentation of severe mixed dyslipidemia in the pediatric population and its diagnostic and therapeutic approach. Case Report: Female 7-year-old is referred because of presenting lactescent serum, evidenced by laboratory tests. Physical exam: height, weight and body mass index in the 50th percentile, painless palpable hepatomegaly. Initial paraclinical: glucose 114 mg/dl, cholesterol 166 mg/dl and triglycerides 1200 mg/dl. Electrophoresis: evidence of VLDL and chylomicrons. Hyperlipoproteinemia type V diagnosis is made; treatment is initiated with lifestyle modification and omega 3 fatty acids, 1500 mg/day. However, given the persistence of high levels of triglycerides and cholesterol, the omega 3 fatty acids is omitted and treatment with ezetimibe 10 mg and ciprofibrate 50 mg daily, is indicated. Genetic studies revealed an intronic variant G/C in intron 7 for gene PPARα, correlated with a high risk of hypertriglyceridemia, and a mutation of exon 4 of gene LDL receptor; for this reason, the diagnosis is modified to mixed dyslipidemia, with elevated VLDL, LDL and chylomicron. The current evolution has been satisfactory. Conclusions: Primary hyperlipidemia is a group of diseases with variable frequency according to the different phenotypes present. The differential diagnosis is important to exclude a secondary cause. Electrophoresis and genetic study guide the diagnosis. Treatment should be individualized depending on the clinical findings of the patient, plasma lipid levels, and associated risk factors.

[Association between resistin serum levels and dimension and body composition variables in children and adolescents]. / Asociación de la resistina con variables de dimensión y composición corporal en eutróficos y obesos.

BACKGROUND: Resistin is an adipokine secreted in adipose tissue that may be associated with the metabolic and endocrine disorders of obesity. AIM: To assess the association between serum resistin levels and body composition variables, in children and adolescents. MATERIAL AND METHODS: Cross-sectional assessment of 302 subjects, aged 10-16 years. According to body mass index, 124 were classified as eutrophic and 178 as obese. A clinical examination and pubertal assessment were performed. Body weight, height, waist and arm circumferences were measured. Serum resistin levels were measured using an immunoenzymatic assay. RESULTS: Male obese children had significantly higher resistin levels than their eutrophic counterparts. Eutrophic women had higher levels than eutrophic males. No significant association between resistin and pubertal status was observed. In the whole sample and among obese subjects, resistin levels correlated with body mass index, tricipital skinfold, arm circumference, arm fat area and fat mass. CONCLUSIONS: There is a significant association between resistin levels and body composition variables, particularly with indicators of fat accretion.

Asociación de la resistina con variables de dimensión y composición corporal en eutróficos y obesos / Association between resistin serum levels and dimension and body composition variables in children and adolescents

Background: Resistin is an adipokine secreted in adipose tissue that may be associated with the metabolic and endocrine disorders of obesity. Aim: To assess the association between serum resistin levels and body composition variables, in children and adolescents. Material and Methods: Cross-sectional assessment of 302 subjects, aged 10-16 years. According to body mass index, 124 were classified as eutrophic and 178 as obese. A clinical examination and pubertal assessment were performed. Body weight, height, waist and arm circumferences were measured. Serum resistin levels were measured using an immunoenzymatic assay. Results: Male obese children had significantly higher resistin levels than their eutrophic counterparts. Eutrophic women had higher levels than eutrophic males. No significant association between resistin and pubertal status was observed. In the whole sample and among obese subjects, resistin levels correlated with body mass index, tricipital skinfold, arm circumference, arm fat area and fat mass. Conclusions: There is a significant association between resistin levels and body composition variables, particularly with indicators of fat accretion.

Polimorfismo 3’UTR +62G>A del gen RETN codificante de resistina y asociación con componentes del síndrome metabólico / 3’UTR +62G>A polymorphism of the RETN gene coding resistin and its association with metabolic syndrome components

Fundamento y objetivo: Diversos polimorfismos del gen de la resistina (RETN) se han asociado con alteraciones metabólicas. En este estudio se evaluó la asociación entre el polimorfismo 3’UTR +62G>A del genRETN y elementos del síndrome metabólico. Sujetos y método: La población de estudio (n = 218) fue distribuida en 3 grupos: control, sin alteraciones metabólicas (n = 77); AMnS, con alteraciones metabólicas aisladas (n = 94); y SM, con síndrome metabólico (n = 47). El polimorfismo 3’UTR +62G>A se analizó por PCR-RFLP. Resultados: La obesidad central fue la alteración más frecuentemente descrita tanto en el grupo AMnS (56,4%) como en el SM (91,5%), seguida de bajos niveles de colesterol unido a lipoproteínas de alta densidad (colesterol HDL) (42,6%) en el grupo AMnS e hipertensión arterial (85%) en el grupo SM. La frecuencia del genotipo +62G/A para la población fue del 20,2%. El genotipo G/A fue más frecuente en los grupos SM (38,3%) y AMnS (17%) que en el grupo control (13%). La distribución alélica fue significativamente diferente entre grupos control (+62G = 0,94, +62A = 0,06) y SM (+62G = 0,81, +62A = 0,19) (p = 0,0001). Se encontró asociación significativa entre el genotipo G/A y valores elevados de circunferencia abdominal (p = 0,047), glucemia basal (p = 0,02) y presión arterial sistólica (p = 0,003). Conclusión: Los resultados sugieren una asociación del genotipo RETN +62G/A con valores elevados de presión arterial sistólica, hiperglucemia y obesidad central. La asociación con estas alteraciones parece ser independiente de posibles efectos de agrupación en el contexto de síndrome metabólico (AU)

No disponible

[3'UTR +62G>A polymorphism of the RETN gene coding resistin and its association with metabolic syndrome components]. / Polimorfismo 3'UTR +62G>A del gen RETN codificante de resistina y asociación con componentes del síndrome metabólico.

BACKGROUND AND OBJECTIVE: The polymorphism of the resistin gene (RETN/RSTN) has been associated with metabolic alterations. In this study the association between the 3'UTR +62G>A polymorphism and metabolic syndrome components was evaluated. SUBJECTS AND METHODS: The population (n=218) was distributed in 3 groups: the control group with no metabolic alterations (n=77), nSMA group with isolated metabolic alterations (n=94) and MS group with metabolic syndrome (n=47). The 3'UTR +62G>A polymorphism was analyzed by PCR-RFLP. RESULTS: Central obesity was the most frequent alteration in both nSMA (56.4%) and MS (91.5%) groups followed by low c-HDL levels in the nSMA group (42.6%) and arterial hypertension in the MS group (85%). The frequency of the +62G/A genotype was 20.2% in the population. The G/A genotype was more frequently found in the MS (38.3%) and nSMA (17%) groups than in the control group (13%). The allelic distribution between the control group (+62G=0.94, +62A=0.06) and MS group (+62G=0.81, +62A=0.19) was significantly different (P=.0001). Significant associations between the G/A genotype and high values of abdominal circumference (P=.047), basal glycemia (P=.02) and systolic arterial pressure (P=.003) were found. CONCLUSION: The findings suggest the association between the G/A genotype and high values of systolic arterial pressure, basal glycemia and abdominal circumference. This association was independent of the metabolic syndrome context.

Evidence of zoonotic Chlamydophila psittaci transmission in a population at risk in Zulia state, Venezuela.

OBJECTIVE: This study was aimed at investigating the frequency of infection by Cp. psittaci and determining its genotype in individuals at potential risk of exposure to the bacteria. METHODOLOGY: The study involved 170 individuals: a risk group (n= 96) and a low-risk control group (n=74). Cp. psittaci was detected and genotyped by single-tube nested PCR and ompA gene sequencing. RESULTS: Eight (8.3 %) positive cases were detected in the risk group and 1 (1.4 %) in the control group (p<0.04). Cp. psittaci was found in 16.7 % of pigeons' fecal samples. Cp. psittaci infection with was more frequent in symptomatic (17.7 %) than asymptomatic (6.3 %) individuals in the risk group. Analysing the genomes isolated from human and bird specimens revealed the presence of genotype B. CONCLUSION: The presence of Cp. psittaci genotype B in the population being evaluated could have been attributed to zoonotic transmission from pigeons to humans, an underestimated potential public health problem in Venezuela requiring the health authorities' involvement.

Polimorfismos del gen UCP-3 en individuos con Síndrome Metabólico del Municipio Maracaibo-Venezuela

Objetivo: La frecuencia de Síndrome Metabólico (SM) en poblaciones adultas está en constante incremento en el Estado Zulia. En este estudio se determinó la frecuencia de los polimorfismos G304A exón 3 del gen UCP-3 y su asociación con los componentes del SM y composición corporal. Métodos: Se estudiaron 92 individuos (45 con diagnóstico de SM, según los criterios de la Federación Internacional de Diabetes y 47 individuos sanos). Se realizaron las determinaciones antropométricas, se tomo la presión arterial y en ayunas se cuantificaron los parámetros bioquímicos. Las versiones polimórficas fueron analizadas por PCR-RFLP. Resultados: La frecuencia genotípica de G/G y G/A fue de 84,45 y 15,55 respectivamente en el grupo con SM con una frecuencia alélica G y A de 0,92 y 0,08 respectivamente. En el grupo testigo la frecuencia genotípica de G/G y G/A fue de 97,88 y 2,12 respectivamente, con una frecuencia alélica G y A de 0,99 y 0,01. Se observaron diferencias significativas entre genotipo G/G y G/A en valores de glucosa basal (p<0,0001), tensión arterial sistólica (p<0,004), triacilgicéridos (p<0,042) en pacientes con SM y porcentaje de grasa (p<0,04). También se observó diferencias significativas en valores de porcentaje de grasa (p< 0,043), VLDL-c (p< 0,04), LDL-c (p<0,019) y triacilglicéridos en sexo femenino con SM. Conclusión: En la muestra estudiada se observó asociación aparente entre el genotipo G/A del gen UCP-3 con hiperglicemia, hipertensiòn arterial sistólica e incremento del porcentaje de grasa así como dislipidemia en el caso particular del sexo femenino.

Objectives: The frequency of metabolic syndrome (MS) in adult populations is constantly increasing in Zulia State. In this study we determined the frequency of polymorphisms G304A exon 3 of the UCP-3 gene and its association with metabolic syndrome components and body composition. Methods: The sample consisted of 92 individuals (45 with diagnosis of MS, according to the criteria of the International Diabetes Federationand 47 healthy subjects). versions were analyzed by PCR-RFLP. Results: The genotype frequency of G/G and G/A was 84.45 and 15.55 respectively in the MS group with a G and A allele frequency of 0.92 and 0.08 respectively, while the genotype frequency in the control group of G/G and G/A was 97.88 and 2.12 respectively with a G and A allele frequency of 0.99 and 0.01. Significant differences were observed between genotype G/G and G/A fasting glucose values (p <0.0001), systolic blood pressure (p<0.004), triacilgicéridos (p <0.042) in patients with MS and fat percentage (p <0.04). Also observed significant differences in fat percentage values (p <0.043), VLDL-c (p <0.04), LDL-c (p <0.019) and triglycerides in females with MS. Conclusion: In the sample studied was observed apparent association between the genotype G/A UCP-3 gene with hyperglycemia, hypertension and increased systolic blood fat percentage and dyslipidemia in the particular case of female.

Curable sexually transmitted infections among female sex workers in a population of Zulia State, Venezuela / Infecciones de transmisión sexual curables en trabajadoras sexuales en una población del estado Zulia, Venezuela

Sexually transmitted infections (STIs) represent a public health problem worldwide. The aim of this study was to investigate the prevalence of curable STIs caused by Neisseria gonorrhoeae, Chlamydia trachomatis and Ureaplasma urealyticum in female sex workers in a population from Zulia State, Venezuela. Seventy eight (78) women attended a health monitoring sanitary controls were evaluated, and PCR amplification assays were used to detect the three microorganisms in endocervical samples. In 33.3% of the samples, at least one microorganism was detected: U. urealyticum was found more frequently (25.6%), followed by N. gonorrhoeae (18%), and C. trachomatis (12.8%). A significant association between N. gonorrhoeae and C. trachomatis was found (p <0.0001). STIs cases represented 42.9% and 28% for symptomatic and asymptomatic groups, respectively. In the symptomatic group, N. gonorrhoeae was 2.4 times (28.6%) more frequent than in the asymptomatic one (12%) (p=0.015), particularly associated with mucopurulent discharge (p=0.025). No association was found between C. trachomatis (p=0.078), and U. urealyticum (p=0.432) with clinical manifestations. Prevalence of curable STIs in the study population was relatively low compared with other high-risk populations worldwide. The results support the possible association between C. trachomatis and N. gonorrhoeae, therefore, treatment would be indicated against both pathogens when one of them is detected in vulnerable populations.

Las infecciones de transmisión sexual (ITS) representan un problema de salud pública a nivel mundial. El objetivo de este estudio fue investigar la prevalencia de ITS curables causadas por Neisseria gonorrhoeae, Chlamydia trachomatis y Ureaplasma urealyticum en trabajadoras sexuales de una población del estado Zulia, Venezuela. Se evaluaron 78 mujeres que asistieron a jornadas de control sanitario y se utilizaron ensayos de amplificación por PCR para detectar los tres microorganismos en muestras endocervicales. En 33,3% de las muestras, se detectó al menos un microorganismo: U. urealyticum fue encontrado con mayor frecuencia (25,6%), seguido de N. gonorrhoeae (18%) y C. trachomatis (12,8%). Se encontró asociación significativa entre N. gonorrhoeae y C. trachomatis (p<0,0001). Los casos de ITS representaron porcentajes de 42% y 28% para los grupos sintomático y asintomático, respectivamente. N. gonorrhoeae fue 2,4 veces más frecuente en el grupo sintomático (28,6%) que en el asintomático (12%) (p=0,015), particularmente asociado con secreción mucopurulenta (p=0,025). No se encontró asociación entre C. trachomatis (p=0,078) y U. urealyticum (p=0,432) con manifestaciones clínicas. La prevalencia de ITS de la población en estudio fue relativamente baja comparada con otras poblaciones de alto riesgo a nivel mundial. Los resultados apoyan la posible asociación entre C. trachomatis y N. gonorrhoeae, por lo tanto se debería considerar el tratamiento contra ambos patógenos, cuando uno de ellos sea detectado en poblaciones vulnerables.

Association between apoliprotein E gene polymorphism and hypercholesterolemic phenotype in Maracaibo, Zulia state, Venezuela.

Apoliprotein (Apo) E gene polymorphisms have been associated with high plasma lipids levels and cardiovascular disease. The aim of this study was to determine allelic and genotypic frequencies and to evaluate the associations of polymorphisms with hypercholesterolemic phenotypes in a patient population in Maracaibo, Zulia State. Two hundred and twenty-one patients with ages between 9 and 78 years old attending the Endocrine-Metabolic Center at the University of Zulia, Zulia, Venezuela, were recruited. The lipid profile was determined by enzymatic methods. ApoE polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism. One hundred and thirty-three dyslipidemic and 88 patients with normal lipids profile were evaluated. The higher proportion of patients corresponded to hypercholesterolemia isolated (46.61%), followed by hypercholesterolemia combined with hypertriglyceridemia and low levels of high-density lipoprotein (21.8%). ApoE epsilon3 allele was the most frequent in the evaluated population (0.80), both in the control group (0.78) and in the dyslipidemic group (0.82), followed by the epsilon4 allele (0.12) for both groups and the epsilon2 allele with values of 0.10 and 0.06, for control and dyslipidemic group, respectively. The epsilon3epsilon3 and epsilon3epsilon4 genotypes were the most frequent in the population, with values of 62.89% and 22.17%, respectively. The genotype frequencies were 57.95% and 66.17% for epsilon3epsilon3; 23.86% and 21.05% for epsilon3epsilon4 in nondyslipidémicos and dyslipidemic patient groups, respectively. The epsilon4epsilon4 genotype was observed only in hypercholesterolemic patients. The homozygote epsilon2epsilon2 and heterozygote epsilon2epsilon3 genotypes were more frequent at the normal lipids profile group, consistent with diverse reports that indicate the association of the epsilon4 allele with elevated cholesterol levels and low cholesterol levels when the epsilon2 allele is present. ApoE polymorphism seems to be associated with variance in serum lipids levels in the population evaluated.

Novel mutations identification in exon 4 of LDLR gene in patients with moderate hypercholesterolemia in a Venezuelan population.

Familial hypercholesterolemia (FH) is an autosomal dominant disease characterized by increase in low-density lipoprotein (LDL) cholesterol levels and premature coronary artery disease. In Venezuela, the molecular basis of FH has not been characterized, thus, the aim of this study was to investigate mutations in the exon 4 of the LDLR (LDL-receptor) gene in 225 Venezuelan mixed race individuals (65 hypercholesterolemic and 160 normolipidemic). The exon 4 of the LDLR gene was screened by polymerase chain reaction-single strand conformational polymorphism (PCR-SSCP) analysis and DNA sequencing. Additionally, ApoB-100 gene mutations were investigated. Different LDLR gene mutations were identified in 5 hypercholesterolemic patients (7.7%), 3 missense mutations (4.6%), and 2 frameshift mutations (3%). All mutations were heterozygous. The missense mutations included the amino acid substitution p.E180K, p.R194S, and p.C152G. The frameshift mutations are caused by insertions resulting in the creation of stop codons: p.D157fsX158 and p.S173fsX174, which could code for truncated LDLR of 157 and 173 amino acids, respectively. The apoB gene mutations were not detected in any of our patients and to our knowledge 4 mutations identified in this study have not been reported previously, this study being the first comprehensive mutation analysis of the LDLR causing FH in our region. The early identification of individuals at risk allows changes in lifestyle, including dietary intervention, followed by drug treatment.

Evidence of zoonotic Chlamydophila psittaci transmission in a population at risk in Zulia state, Venezuela / Evidencia de transmisión zoonótica de Chlamydophila psittacci en una población de riesgo del Estado Zulia, Venezuela

Objective This study was aimed at investigating the frequency of infection by Cp. psittaci and determining its genotype in individuals at potential risk of exposure to the bacteria. Methodology The study involved 170 individuals: a risk group (n= 96) and a low-risk control group (n=74). Cp. psittaci was detected and genotyped by single-tube nested PCR and ompA gene sequencing. Results Eight (8.3 %) positive cases were detected in the risk group and 1 (1.4 %) in the control group (p<0.04). Cp. psittaci was found in 16.7 % of pigeons' fecal samples. Cp. psittaci infection with was more frequent in symptomatic (17.7 %) than asymptomatic (6.3 %) individuals in the risk group. Analysing the genomes isolated from human and bird specimens revealed the presence of genotype B. Conclusion The presence of Cp. psittaci genotype B in the population being evaluated could have been attributed to zoonotic transmission from pigeons to humans, an underestimated potential public health problem in Venezuela requiring the health authorities' involvement.

Objetivo El objetivo de este estudio fue investigar la frecuencia de infecciones por Cp. psittaci y determinar su genotipo en individuos con potencial riesgo de exposición a la bacteria. Metodología Se incluyeron 170 individuos, un grupo de riesgo (n=96) y un grupo control (n=74). La detección y genotipificación de Cp. psittaci se llevó a cabo por PCR anidada y secuenciación del gen ompA. Resultados Se detectaron ocho (8,3 %) casos positivos en el grupo de riesgo y 1 (1,35 %) en el grupo control (p<0,04). Cp. psittaci fue detectada en 16,7 % muestras fecales de palomas. En el grupo de riesgo, la frecuencia de infección por Cp. psittaci fue 17,7 % en individuos sintomáticos y 6,3% en asintomáticos. El análisis de los genomas aislados de muestras humanas y aves, revelaron la presencia del genotipo B. Conclusión La presencia de Cp. psittaci genotipo B en la población evaluada podría ser atribuida a transmisión zoonótica de palomas a humanos, un potencial problema de salud pública en nuestra región que requiere la intervención de autoridades sanitarias.