[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.

Single-nucleotide polymorphisms in adiponectin, AdipoR1, and AdipoR2 genes: insulin resistance and type 2 diabetes mellitus candidate genes.

It has already been a decade and a half since the discovery of adiponectin and its role as an insulin sensitizer and only 7 years since its receptors, AdipoR1 and AdipoR2, were described. A single-nucleotide polymorphism (SNP) is a DNA sequence variation that affects only one nucleotide; it may vary from one population to another with different predisposing factors to diseases and other ailments. Once some of the effects of adiponectin and its receptors were known, it was not long until an effort was made to find the associations between specific SNPs of the genes of this hormone and its receptors as genetic risk factors for insulin resistance, type 2 diabetes mellitus, and metabolic syndrome, although these genes were investigated as possible candidates related to the development of these metabolic disorders. All of these possible associations were studied in different populations from France, Finland, the United Kingdom, North America, and Japan, showing hardly concluding results, and because of that it is highly controversial to directly associate one of the genes mentioned above to insulin resistance, type 2 diabetes mellitus, and metabolic syndrome. All of these inconsistencies lead to a review that summarizes the SNPs of the genes of adiponectin, AdipoR1, and AdipoR2 that are mostly related to insulin resistance syndrome, type 2 diabetes mellitus, and metabolic syndrome, although presenting the possible factors that should be taken into account to homogenize the results obtained until now.

International physical activity questionnaire overestimation is ameliorated by individual analysis of the scores.

Sedentarism is considered a risk factor for coronary heart disease and death from any cardiovascular disease. The International Physical Activity Questionnaire (IPAQ) assesses physical activity in metabolic equivalents, using 4 dimensions: occupation, transportation, household activities, and leisure-time physical activity. The purpose of this investigation was to assess physical activity levels in the patients enrolled in the Maracaibo City Metabolic Syndrome Prevalence Study, currently undertaken by the "Dr. Félix Gómez" Endocrine-Metabolic Research Center. Two thousand one hundred eight individuals were recruited and subjected to a standard Medical chart, Graffar scale, and IPAQ long form, applied by trained personnel. Description of the population was done using mean, SD, and coefficient of variation. IPAQ scores were analyzed as medians and distributed by percentiles. From the 2108 individuals, 46.9% were men and 53.1% were women. The most prevalent physical activity was high physical activity with 39.9%, followed by moderate physical activity with 36.9% and low physical activity with 23.2%. Medians for each IPAQ dominion were occupation with 0.00 (0.00-66.00), transportation with 165.00 (0.00-463.00), household activities with 772.50 (0.00-2520.00), and leisure time with 0.00 (0.00-594.00). Using leisure-time scores, a new reclassification was conducted, obtaining 1245 subjects with 0 metabolic equivalents in this dominion. From this new subsample, 43.6% had High physical activity, 56.95% had Moderate physical activity, and 91% had Low physical activity, demonstrating an important overestimation in the former sample results. IPAQ overestimates moderate and vigorous activity in the adult population of the Maracaibo Municipality. Overestimation is mainly located in the household- and gardening-related activity.

[Prevalence of Encephalitozoon intestinalis and Enterocytozoon bieneusi in HIV positive patients to Maracaibo, Venezuela]. / Prevalencia de Encephalitozoon intestinalis y Enterocytozoon bieneusi en pacientes VIH positivos de Maracaibo, Venezuela.

Microsporidioses are considered emerging and opportunistic infections in immunocompromised individuals worldwide. The purpose of this study was to identify the species of intestinal microsporidia in patients with HIV-AIDS from the Servicio Autónomo Hospital Universitario de Maracaibo, Venezuela (SAHUM). Fecal samples were collected from 50 patients with confirmed diagnosis of HIV, during the years 2007 and 2008; the CD4 values were obtained from 42 patients. The samples were analyzed by separate PCRs to identify Encephalitozoon intestinalis and Enterocytozoon bieneusi. Microsporidia species showed a 36% prevalence: ten patients had Encephalitozoon intestinalis, four Enterocytozoon bieneusi and four both species. An inverse and statistically significant relationship between the CD4 count and the presence of microsporidia in the fecal sample was also found. It is remarkable the high prevalence of microsporidia species observed in the HIV patients studied, with a predominance of E. intestinalis.

[Detection of Entamoeba histolytica and Entamoeba dispar by PCR in children, less than five years of age with diarrhea, in Maracaibo, Venezuela. A preliminary study]. / Detección de Entamoeba histolytica y Entamoeba dispar mediante PCR, en niños menores de cinco años con diarrea, en Maracaibo, Venezuela. Estudio preliminar.

To determine the prevalence of Entamoeba histolytica as a producer of diarrhea, a study was conducted in children, less than five years of age, with diarrhea who attended several out patient clinics of the Servicio Aut6nomo Hospital Universitario, Maracaibo, Venezuela. A macroscopic and microscopic examination with physiological saline, lugol and Kinyoun staining were performed to the stool samples obtained. The remainder of the sample was frozen until DNA extraction, and PCR amplification was performed separately for E. histolytica and E. dispar. Microscopic examination showed no trophozoites and/or cysts of Entamoeba histolytica/dispar/moshkovskii, or intestinal coccidians in any of the 50 samples analyzed. Parasites detected were Giardia lamblia (6%), Blastocystis sp. (4%), Pentatrichomonas hominis (2%), Ascaris lumbricoides (2%) and Trichuris trichiura (2%). By PCR, six samples (12%) had DNA of E. dispar and two (4%) had DNA from E. histolytica; no child showed association of both amoebae. The two children who had E. histolytica were one-year-old. E. dispar was detected in younger children. We suggest that the prevalence of E. histolytica in children under five years is really low.

[Detection of S315T mutation in the katg gene as a strategy for identification of isoniazid-resistant Mycobacterium tuberculosis in a reference laboratory]. / Detección de la mutación S315T en el gen katg como estrategia para identificación de Mycobacterium tuberculosis resistente a isoniacida en un laboratorio de referencia.

INTRODUCTION: The emergence of strains of Mycobacterium tuberculosis resistant to drugs is a public health problem. AIM: To characterize the resistance to isoniazid (INH) in M. tuberculosis. METHODS: Phenotypic and genotypic methods were used to determine the contribution of mutations at 315 codon of katG gene to the phenotypic expression of resistance. The analysis of susceptibility to antibiotics was performed by the proportional method of Canetti and nitrate reductase method.Genotypic analysis of INH resistance was performed by PCR-RFLP. RESULTS: 193 strains of M. tuberculosis from patients with respiratory symptoms were analyzed. Nineteen (9.8%) strains resistant to INH were identified, of which 12 (63.2%) showed resistance to other drugs. Genotypic analysis allowed to detect the mutation S315T in the katG gene in 15 of 17 strains phenotypically resistant to INH, showing a sensitivity of 88.24%, 100% specificity, 100% positive predictive value, 92% negative predictive value and high concordance with phenotypic methods (kappa = 0.85 (p < 0.01). CONCLUSION: The S315T mutation in the katG gene is the predominant mechanism of INH resistance in our circulating strains. This feature could be used as a rapid diagnostic tool with potential to detect at least 88% of isoniazid resistant strains, with great impact on the therapeutic management of patients.

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.

PPAR-gamma agonists and their role in type 2 diabetes mellitus management.

Type 2 diabetes mellitus and obesity are the most frequent endocrine-metabolic diseases in the world and their pathogenic basis are characterized by insulin resistance and insulin secretion defects that can be demonstrated through several alterations in carbohydrates, lipids, and protein metabolism. The peroxisome proliferator-activated receptors have been identified as key regulators of glucose and lipid metabolism, because they act as transcription factors that stimulate protein synthesis in a wide variety of processes (energetic metabolism, proliferation, and cellular differentiation), of which have been identified 3 types (alpha, beta/delta, gamma). The thiazolidenediones are compounds that act as agonists of the peroxisome proliferator-activated receptor-gamma increasing the tissues sensibility (muscle, adiposity tissue, and liver) to the insulin action; that is why they are used nowadays in treatment of type 2 diabetes mellitus. These drugs produce several of adverse effects, such as weight increased, edema, anemia, pulmonary edema, and congestive cardiac failure. Even their use have been related for some studies to an increased in the myocardium infarct risk; this correlation has not been a strong determinant to remove them from the market.

Lipoprotein(a): from molecules to therapeutics.

Lipoprotein (a) [Lp(a)] was discovered by Kare Berg in 1963 from the study of low-density lipoprotein genetic variants. Lp(a) contains a unique protein, apolipoprotein(a), which is linked to the Apo B-100 through a disulfide bond that gives it a great structural homology with plasminogen, and confers it atherogenic and atherothrombotic properties. Interest in Lp(a) has increased because an important association between high plasma levels of Lp(a) and coronary artery disease and cerebral vascular disorders has been demonstrated. Numerous case control studies have confirmed that hyper-Lp(a) is a risk factor for premature cardiovascular disease. Lp(a) is identified as a genetic trait with autosomal transmission, codified by one of the most studied polymorphic genes in humans. It has been demonstrated that variations in this gene are a major factor in the serum levels of Lp(a). Variations differ considerably between individuals and sex across populations. Various approaches to drug treatment using fibric acid derivatives, growth hormone, insulin-like growth factor-1, alcohol extracted soy protein, niacin, and exercise have been proven to decrease Lp(a) in high risk patients, but none has really been an effective therapeutic option for successfully reducing Lp(a) plasma levels.

An elevated level of physical activity is associated with normal lipoprotein(a) levels in individuals from Maracaibo, Venezuela.

Coronary artery disease is the main cause of death worldwide. Lipoprotein(a) [Lp(a)], is an independent risk factor for coronary artery disease in which concentrations are genetically regulated. Contradictory results have been published about physical activity influence on Lp(a) concentration. This research aimed to determine associations between different physical activity levels and Lp(a) concentration. A descriptive and cross-sectional study was made in 1340 randomly selected subjects (males = 598; females = 712) to whom a complete clinical history, the International Physical Activity Questionnaire, and Lp(a) level determination were made. Statistical analysis was carried out to assess qualitative variables relationship by chi2 and differences between means by one-way analysis of variance considering a P value <0.05 as statistically significant. Results are shown as absolute frequencies, percentages, and mean +/- standard deviation according to case. Physical activity levels were ordinal classified as follows: low activity with 24.3% (n = 318), moderate activity with 35.0% (n = 458), and high physical activity with 40.8% (n = 534). Lp(a) concentration in the studied sample was 26.28 +/- 12.64 (IC: 25.59-26.96) mg/dL. Lp(a) concentration according to low, moderate, and high physical activity levels were 29.22 +/- 13.74, 26.27 +/- 12.91, and 24.53 +/- 11.35 mg/dL, respectively, observing statistically significant differences between low and moderate level (P = 0.004) and low and high level (P < 0.001). A strong association (chi2 = 9.771; P = 0.002) was observed among a high physical activity level and a normal concentration of Lp(a) (less than 30 mg/dL). A lifestyle characterized by high physical activity is associated with normal Lp(a) levels.

The Maracaibo city metabolic syndrome prevalence study: design and scope.

The metabolic syndrome (MS) is a conglomerate of interrelated risk factors-including obesity, atherogenic dyslipidemia, arterial hypertension, and insulin resistance-which exponentially increase the risk of developing cardiovascular disease and type 2 diabetes mellitus. The purpose of this study was to determine the prevalence of MS according to the criteria published by the International Diabetes Federation, in individuals of both sexes over 18 years of age. This is a cross-sectional study based on MS prevalence in a representative sample from the Maracaibo district, Zulia State. The population of Maracaibo, according to the last census in 2001, was 1,219,927 habitants, with a 2007 population estimation of 1,428,043 habitants according to the National Institute of Statistics (NIS). Likewise, NIS projects that for the year 2009, 59.7% of the population of Venezuela will have individuals over 18 years of age. Using these data, the sample for Maracaibo District corresponds to 1986 individuals with or above 18 years of age. The data recollection was conducted by health professionals and medicine students, previously trained. The participants were subject to inquiry previous written consent and a medical examination, and qualitative variables such as smoking habit, socioeconomic status, physical activity, race, alcoholism, and nutritional habits, and quantitative ones like blood pressure, anthropometry, and blood works were determined. There is clear evidence that there is a lack of research and validated values to use as reference in our country and maybe in Latin America. Taking into account all that has been exposed here, this study will serve as a pilot for the numerous statistical determinations that will soon come afterward, providing first-hand accurate evidence on the behavior of the MS in the Latin American populace.

Metabolic and hemodynamic markers of endothelial dysfunction in patients with hypertension and patients with type 2 diabetes during the cold pressor test.

Leptin, a 167-amino acid peptidic hormone secreted by adipose tissue, acts mainly in the arcuate hypothalamus nucleus as a satiety signal, but given its closed connections with inflammatory and endothelial systems, a probable regulatory role in blood pressure (BP) control by interaction with nitric oxide (NO) and C-reactive protein (CRP) has also been described. The cold pressor test (CPT) is a simple test that indirectly determines endothelial dysfunction. In this work, biochemical indicators (CRP, leptin, and NO) and hemodynamic indicators (systolic and diastolic BP) were performed and evaluated in patients with hypertension, patients with type 2, and control subjects during a single CPT for assessment of endothelial dysfunction. A total of 43 subjects aged 25 to 60 years were divided into three groups: 15 healthy volunteers, 13 patients with hypertension, and 15 patients with type 2 diabetes were included in the study. A complete clinical history was obtained from each subject and a complete physical examination, including an electrocardiogram, was carried out. During the 30-minute assay, 0.9% saline solution was infused intravenously. CPT was performed to assess the cardiovascular reactivity at 15 minutes. The cardiovascular variables (systolic and diastolic BP) were measured at 0, 16, and 30 minutes. In addition, serum variables were extracted at the beginning and at the end of the experiment and statistical analysis was performed. CPT caused in all subjects a significant increase in BP and pulse. There were no significant differences in CRP or leptin in all groups, although we observed significant differences for NO (P < 0.05). Sensibility and specificity for all biochemical variables resulted in nonsignificant statistical or clinical importance as markers of endothelial dysfunction; however, a positive association was found when leptin and NO were evaluated together (sensibility, 0.2; specificity, 0.8). CRP, leptin, and NO did not show any direct or significant association with the hemodynamic variables in this study, although a relationship was observed in NO according to group and among biochemical variables when studied together.

Pharmacologic management of isolated low high-density lipoprotein syndrome.

High-density lipoprotein (HDL) cholesterol is a heterogeneous group of lipoproteins exhibiting a variety of properties like prostacyclin production stimulation, decrease in platelet aggregation, endothelial cell apoptosis inhibition, and low-density lipoprotein oxidation blockade. Epidemiologic studies have shown an inverse relation between HDL cholesterol levels and cardiovascular risk. Low HDL cholesterol is associated with increased risk for myocardial infarction, stroke, sudden death, peripheral artery disease, and postangioplasty restenosis. In contrast, high HDL levels are associated with longevity and protection against atherosclerotic disease development. Given the evolving epidemic of obesity, diabetes mellitus, and metabolic syndrome, the prevalence of low HDL will continue to rise. In the United States, low HDL is present in 35% of men, 15% of women, and approximately 63% of patients with coronary artery disease. Data extracted from the Framingham study highlight that 1-mg increase in HDL levels decreases by 2% to 3% the risk of cardiovascular disease. There is no doubt regarding clinical importance about isolated low HDL, but relatively few clinicians consider a direct therapeutic intervention of this dyslipidemia. In this sense, lifestyle measures should be the first-line strategy to manage low HDL levels. On the other hand, pharmacologic options include niacin, fibrates, and statins. Fibrates appear to reduce risk preferentially in patients with low HDL with metabolic syndrome, whereas statins reduce risk across all levels of HDL. Torcetrapib, a cholesteryl esters transfer protein inhibitor, represented a hope to raise this lipoprotein; however, all clinical trials on this drug had ceased after ILLUMINATE, RADIANCE and ERASE trials had recorded an increase in mortality, rates of myocardial infarction, angina, and heart failure. In the near future, drugs as beta-glucans, Apo-A1 mimetic peptides, and ACAT inhibitors, are the new promises to treat this condition.

Homeostasis model assessment (HOMA) as surrogate insulinization criteria in patients with type 2 diabetes.

Type 2 diabetes mellitus is a metabolic disorder that results from defects in both insulin secretion and insulin action. Questions remain about when insulin therapy is indicated; thus, the aim of this study was to evaluate homeostasis model assessment beta-cell (HOMAbetacell) values as surrogate criteria for insulin therapy indication in patients with type 2 diabetes. A prospective study was performed involving 189 type 2 diabetic patients with deficient metabolic control assessed by clinical and laboratory parameters. All patients received nutritional intervention and combination therapy with metformin and glimepiride. Patients who did not respond were admitted to the next phase, which consisted of glimepiride + metformin + rosiglitazone oral therapy and revaluation after 3 months. Comparisons between responders and nonresponders in this phase were made in order to achieve differences in metabolic parameters and beta cell function. Of 189 patients studied, 150 (79.36%) were considered full responders in the first phase of this study. The remaining 39 patients were admitted in the second trial phase, in which 20 patients (51.28%) responded to triple oral therapy, while the other 19 (49.72%) required insulin therapy. Significant differences were found in fasting and postprandial glycemia (P < 0.001; P < 0.004) between the non-insulin-requiring group (200 +/- 12.0 mg/dL; 266.05 +/- 17,67 mg/dL) and the insulin-requiring group (291.5 +/- 17.6 mg/dL; 361.6 +/- 26.1 mg/dL). Likewise, significant differences were observed in homeostasis model assessment insulin resistance (HOMAIR) and HOMAbetacell values (P < 0.002; P < 0.04) between non-insulin-requiring patients (7.7 +/- 0.8; 24.5 +/- 1.3%) and insulin-requiring patients (12.6 +/- 1.2; 19.4 +/- 2.4%). Finally, significant differences were observed when comparing body mass index (non-insulin-requiring group, 29.2 +/- 0.4 kg/m, versus insulin-requiring group, 27.1 +/- 0.9 kg/m; P < 0.05). HOMAbetacell determination in clinical practice is a useful tool to determine when insulin therapy should be started for type 2 diabetic patients.

[Chlamydia trachomatis infection in females consulting health centres in Maracaibo, Venezuela]. / Infección por Chlamydia trachomatis en mujeres consultantes en Maracaibo, Venezuela.

OBJECTIVE: Evaluating Chlamydia trachomatis infection prevalence in a group of symptomatic and asymptomatic females attending gynaecology services in health centres in Maracaibo in the state of Zulia in Venezuela. METHODOLOGY: 168 patients attending two health centres in Maracaibo were included in this study. Gynaecological evaluation was based on examining the pelvis, deep areas of the vagina and the cervix. Patients were classified into groups according to age and the presence of clinical manifestations. Two DNA amplification assays of endogenous plasmid and the omp1 gene taken from endocervical swabs were used for investigating C. trachomati. RESULTS: 168 patients were evaluated; 81 (48,2 %) were symptomatic and 87 (51,8 %) asymptomatic, A 7,7 % prevalence (p>0.05) was found in the total population (9,9 % prevalence for symptomatic patients and 5,8 % for asymptomatic ones). The 18- 28 year old patient group exhibited the highest prevalence (13,7 %) (p=0.0322). The predominant clinical manifestations were mucopurulent secretion (35,8 %) and cervicitis (21 %). C. trachomatis was detected in 7,1 % of patients having mucopurulent secretion and 23,5 % of cervicitis cases; however, no significant association between infection and individual clinical manifestations was shown (p>0.05). CONCLUSION: Medium C. trachomatis infection prevalence was found In the population being assessed here, the highest frequency being exhibited in young females. This microorganism should be investigated in sexually-active young women, regardless of their symptomatic or asymptomatic status.

[Molecular analysis of the GABRB3 gene in autistic patients: an exploratory study]. / Análisis molecular del gen GABRB3 en pacientes con autismo: estudio exploratorio.

Autism is a complex neurodevelopmental disorder characterized by impairment of social interaction, language, communication, and stereotyped, repetitive behavior. Genetic predisposition to Autism has been demonstrated in families and twin studies. There is evidence (linkage and genetic association, biochemical, neuropathological, functional and cytogenetic) that the gamma-amino-butyric acid receptor beta 3 subunit gene (GABRB3) at 15q11-q13 is a susceptibility candidate gene for Autism. The aim of this exploratory study was to identify new variants of this gene. We performed the molecular analysis (SSCP/Sequencing) of 10 exons and its intronic flanking regions of GABRB3, using a candidate gene screening approach in 18 idiopathic autistic patients. We did not find non-synonymous mutations at the encoding regions, but we identified four SNP (Single Nucleotide Polymorphism). The first one, represented a silent mutation p.P25P in exon la and was found in 33.33% of the patients. The second one: IVS3 + 13C > T (5b far from the intron 5' consensus sequence), was found in 44.44% of the patients, while it was also identified in 16.67% of the controls. Simultaneously, 33.33% of the patients had both variants, and although, 16.67% of the controls also had the same combination of variants, 66.66% of the patients with those alleles had a familiar history of Autism. The third and fourth SNP: IVS5 + 40T > G and IVS-70A > G were identified in two different patients. None of the last three SNPs have been reported at the SNP database (dbSNP). The proximity of SNP: IVS3 + 13C > T with the consensus and interaction sequence with U1 nucleoriboprotein, could disturb the normal splicing of mRNA. This is in agreement with the evidence of lower levels of GABA-A receptors in autistic brains; so, it could be a common variant, that by itself could not cause a phenotypic effect, but joined to other variants with the same gene, in different related genes or with epigenetic changes, could explain the autistic phenotype and its heterogeneity.

[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.

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.