Prevalencia de alteraciones del metabolismo glucídico en familiares de primer grado de pacientes diabéticos tipo 2 / Prevalence of glucidic metabolism alterations in first- degree relatives of type 2 diabetic patients

Introducción: La diabetes mellitus se considera un síndrome heterogéneo con etiología compleja en el que influyen factores genéticos y ambientales. Objetivo: Identificar la presencia de alteraciones del metabolismo glucídico y factores de riesgo aterogénicos en familiares de primera línea de pacientes diabéticos tipo 2. Métodos: Se realizó un estudio descriptivo de corte transversal que incluyó a 120 pacientes adultos, hijos de pacientes diabéticos, en los que no se encontraban antecedentes de alteraciones del metabolismo glucídico, pertenecientes al Policlínico Universitario Héroes del Moncada, del municipio Plaza de la Revolución. Se estudiaron variables sociodemográficas, variables clínicas y relacionadas con los estilos de vida como la tensión arterial, el índice de masa corporal, colesterol, triglicéridos, glucemias (ayunas y posprandial), hábito de fumar, actividad física y hábitos dietéticos. Resultados: Los pacientes tenían una edad promedio de 54,42 años y predominó el sexo femenino. Se detectaron alteraciones del metabolismo glucídico en 28,3 por ciento de los cuales 23,3 por ciento se consideraron prediabéticos y 5 por ciento diabéticos. Los factores de riesgo que predominaron fueron la dieta inadecuada, obesidad abdominal, hipercolesterolemia e hipertrigliceridemia que fueron más evidentes en los pacientes diagnosticados como diabéticos. Conclusiones: Los familiares de primer grado de pacientes diabéticos pueden presentar una alta prevalencia de alteraciones del metabolismo glucídico y factores de riesgo aterogénicos, aún sin sintomatología evidente, lo que refuerza la necesidad de realizar un diagnóstico temprano para evitar la progresión de la enfermedad(AU)

Introduction: Diabetes mellitus is considered a heterogeneous syndrome with a complex etiology, influenced by genetic and environmental factors. Objective: To identify the presence of alterations of the glucidic metabolism and atherogenic risk factors in first- degree relatives of type 2 diabetic patients. Methods: A descriptive cross-sectional study was carried out at Heroes del Moncada University Polyclinic, in Plaza de la Revolution municipality. The study included 120 adult patients, descendants of diabetic patients. They had no history of alterations of the glucidic metabolism. Sociodemographic, clinical variables were studied, and those related to lifestyles such as blood pressure, body mass index, cholesterol, triglycerides, (fasting and postprandial) glycaemia, smoking, physical activity and dietary habits. Results: These patients had average age of 54.42 years and the female sex predominated. Alterations of the glucidic metabolism were detected in 28.3 percent, 23.3 percent of them were considered pre-diabetic and 5 percent diabetic. The predominant risk factors were inadequate diet, abdominal obesity, hypercholesterolemia, and hypertriglyceridemia, which was much evident in patients diagnosed as diabetic. Conclusions: The first-degree relatives of diabetic patients may present high prevalence of alterations of glucidic metabolism and atherogenic risk factors, even with no evident symptoms, which reinforces the need of early diagnosis to avoid the progression of the disease(AU)

Asociación del polimorfismo rs7903146, del gen TCF7L2, con marcadores de adiposidad y metabólicos en población chilena - resultados del estudio GENADIO / Association of the TCF7L2 (RS7903146) genotype with adiposity and metabolic markers in the Chilean adult population

Background: Type 2 diabetes etiology has a strong genetic component. More than 20 genetic variants have been associated with diabetes and other metabolic markers. However, the polymorphism rs7903146 of the TCF7L2 gene has shown the strongest association. Aim: To investigate the association of TCF7L2 (rs7903146) genotype with adiposity and metabolic markers in the Chilean adult population. Material and Methods: The association of TCF7L2 (rs7093146) with adiposity and metabolic markers was studied in 301 participants. The outcomes of the study were adiposity markers (body weight, body mass index (BMI), fat mass and waist circumference) and metabolic markers (blood glucose, insulin, HOMA-IR, lipid profile, high sensitivity C-reactive protein (CRP), alanine aminotransferase (ALT), gamma glutamyl transpeptidase (GGT) and leptin). Results: There was an association between the polymorphism TCF7L2 genotype and fasting blood glucose. The latter increased by 4.86 mg/dl per each copy of the risk allele [(95% confidence intervals (CI): 0.48; 9.24), p = 0.03] in the unadjusted adjusted model. However, this association was slightly attenuated in the fully adjusted model [4.38 mg/dl (95% IC: 0.16; 8.60), p = 0.04)]. There were no associations between the TCF7L2 genotype and any other metabolic or adiposity outcome. Conclusions: These findings confirm the association between the TCF7L2 (rs7903146) and fasting glucose in the Chilean population. However, further studies are needed to confirm the association between the TCF7L2 and diabetes risk in the Chilean population.

Símdrome de Silver-Russell (hemihipertrofia) y cor triatriatum en un neonato / Silver-Russell syndrome (hemihypertrophy) and cor triatriatum in a newborn

Tanto el síndrome de hemihipertrofia como el cor triatriatum son patologías sumamente infrecuentes. La hemihipertrofia se define como el sobrecrecimiento completo o parcial de uno de los hemicuerpos. El cor triatriatum es una cardiopatía congénita caracterizada por una membrana que divide la aurícula izquierda en dos cámaras; si esta membrana tiene un orificio restrictivo, provoca obstrucción al pasaje sanguíneo desde las venas pulmonares hacia el ventrículo izquierdo, lo que genera hipertensión y edema pulmonar. En este contexto, el ductus arterioso permeable puede actuar como vía de descompresión del circuito pulmonar al permitir el pasaje sanguíneo desde la arteria pulmonar hacia la aorta. Presentamos a un paciente con diagnóstico de síndrome de Silver-Rusell (hemihipertrofia), cor triatriatum y ductus arterioso con flujo invertido. Hasta donde conocemos, esta asociación de patologías infrecuentes y forma de presentación no se han descrito anteriormente.

Hemihypertrophy syndrome and cor triatriatum are extremely rare pathologies. Hemihypertrophy is defined as complete or partial overgrowth of one of the hemibodies. Cor triatriatum is a congenital heart disease characterized by a membrane which separates the left atrium into two chambers; if that membrane has a restrictive hole, it causes obstruction to blood passage from the pulmonary veins into the left ventricle causing hypertension and pulmonary edema. In this context, the patent ductus arteriosus can act as a means of decompression of the pulmonary circuit, because it allows the blood passage from the pulmonary artery to the aorta. We report a patient with Silver-Rusell syndrome (hemihypertrophy), cor triatriatum and ductus arteriosus with reverse flow. To our knowledge, this association of rare pathologies and this clinical presentation have not been described previously.

Insulin-like growth factor 1 gene (CA)n repeats and a variable number of tandem repeats of the insulin gene in Brazilian children born small for gestational age

OBJECTIVE: To investigate the influence of (CA)n repeats in the insulin-like growth factor 1 gene and a variable number of tandem repeats of the insulin gene on birth size in children who are small or adequate-sized for gestational age and to correlate these polymorphisms with serum insulin-like growth factor 1 levels and insulin sensitivity in children who are small for gestational age, with and without catch-up growth. PATIENTS AND METHODS: We evaluated 439 infants: 297 that were adequate-sized for gestational age and 142 that were small for gestational age (66 with and 76 without catch-up). The number of (CA)n repeat in the insulin-like growth factor 1 gene and a variable number of tandem repeats in the insulin gene were analyzed using GENESCAN software and polymerase chain reaction followed by enzymatic digestion, respectively. Clinical and laboratory data were obtained from all patients. RESULTS: The height, body mass index, paternal height, target height and insulin-like growth factor 1 serum levels were higher in children who were small for gestational age with catch-up. There was no difference in the allelic and genotypic distributions of both polymorphisms between the adequate-sized and small infants or among small infants with and without catch-up. Similarly, the polymorphisms were not associated with clinical or laboratory variables. CONCLUSION: Polymorphisms of the (CA)n repeats of the insulin-like growth factor 1 gene and a variable number of tandem repeats of the insulin gene, separately or in combination, did not influence pre- or postnatal growth, insulin-like growth factor 1 serum levels or insulin resistance. .

Effect of pitavastatin in different SLCO1B1 backgrounds on repaglinide pharmacokinetics and pharmacodynamics in healthy Chinese males

The effect of pitavastatin and SLCO1B1 genetic background on the pharmacokinetic and pharmacodynamic properties of repaglinide was investigated. In this randomized, placebo-controlled, crossover study, twelve healthy Chinese males were administered with pitavastatin 4 mg/d or the placebo for 5 d followed by repaglinide 4 mg given orally on d 5. Plasma repaglinide and glucose levels were measured by liquid chromatography-tandem mass spectrometry [LC/MS/MS] and the glucose oxidase method, respectively. Treatment with pitavastatin significantly increased the peak plasma concentration [C[max]] of repaglinide [P=0.003] in SLCO1B1[asterisk]1b homozygotes [P=0.015] and SLCO1B1[asterisk]15 carriers [P=0.031]. Treatment with pitavastatin led to a marginal increase in the area under plasma concentration-time curve from 0 h to infinity [AUC[0][rightwards arrow][infinity]] of repaglinide [P=0.091]. There was no significant difference in pharmacokinetic parameters or hypoglycemic effects of repaglinide among SLCO1B1 genotypes in either the pitavastatin or control group. Pitavastatin increased the C[max] of the plasma concentration of repaglinide in an SLCO1B1 genotype dependent manner, but had no apparent effect on the pharmacodynamics of repaglinide in healthy volunteers. The p values for this statement were not reported

Combined Genome-Wide Linkage and Association Analyses of Fasting Glucose Level in Healthy Twins and Families of Korea

This study was undertaken to identify genetic polymorphisms that are associated with the risk of an elevated fasting glucose (FG) level using genome-wide analyses. We explored a quantitative trait locus (QTL) for FG level in a genome-wide study from a Korean twin-family cohort (the Healthy Twin Study) using a combined linkage and family-based association analysis approach. We investigated 1,754 individuals, which included 432 families and 219 pairs of monozygotic twins. Regions of chromosomes 2q23.3-2q31.1, 15q26.1-15q26.3, 16p12.1, and 20p13-20p12.2, were found to show evidence of linkage with FG level, and several markers in these regions were found to be significantly associated with FG level using family-based or general association tests. In particular, a single-nucleotide polymorphism (rs6138953) on the PTPRA gene in the 20p13 region (combined P = 1.8 x 10(-6)) was found to be associated with FG level, and the PRKCB1 gene (in 16p12.1) to be possibly associated with FG level. In conclusion, multiple regions of chromosomes 2q23.3-2q31.1, 15q26.1-15q26.3, 16p12.1, and 20p13-20p12.2 are associated with FG level in our Korean twin-family cohort. The combined approach of genome-wide linkage and family-based association analysis is useful to identify novel or known genetic regions concerning FG level in a family cohort study.

Perfil de presión arterial e historia familiar de hipertensión en niños escolares sanos de Santiago de Chile / Blood pressure and family history of hypertension in children from Santiago, Chile

Background: The prevalence of pediatric arterial hypertension (AHT) is approximately 1% to 2%. In the last ten years, mean blood pressure levels (BP) have raised due to obesity and changes in lifestyles. Family history (FH) of AHT is a risk factor to develop AHT inchildren. Aim: To assess blood pressure, cardiovascular risk factors and family history in healthy children of Santiago. Material and methods: Blood pressure, family history of AHT, birth weight(BW), gestational age, puberal stage, blood glucose, serum lipids and ultrasensitive Reactive C Protein (usCRP) were analyzed, using data from a study of early markers of atherosclerosis in children. Results: Data of 112 children aged between 6-12 years was analyzed. Hypertension (BP >percentile 95) was detected in 2.7% and pre hypertension (BP in percentiles 90-95) in 3.6% of thesample. Children with abnormal BP had higher levels of usCRP (p <0.05) and a non significant tendency towards a higher body mass index. All hypertensive and one pre hypertensive children had FH of AHT. Eleven percent of parents, had high blood pressure. In no children, both parents werehypertensive. Children with a family history of hypertension had higher concentrations of total serum cholesterol (p <0.05). Conclusions: The abnormal prevalence of AHT found in this study is comparable to other studies. FH associated to higher levels of BP in children. Children withabnormal BP had a higher subclinical level of inflammation.

The association of ACE gene D/I polymorphism with cardiovascular risk factors in a population from Rio de Janeiro

Our aim was to determine the frequencies of the angiotensin-converting enzyme (ACE) gene alleles D and I and any associations to cardiovascular risk factors in a population sample from Rio de Janeiro, Brazil. Eighty-four adults were selected consecutively during a 6-month period from a cohort subgroup of a previous large cross-sectional survey in Rio de Janeiro. Anthropometric data and blood pressure measurements, echocardiogram, albuminuria, glycemia, lipid profile, and ACE genotype and serum enzyme activity were determined. The frequency of the ACE*D and I alleles in the population under study, determined by PCR, was 0.59 and 0.41, respectively, and the frequencies of the DD, DI, and II genotypes were 0.33, 0.51, and 0.16, respectively. No association between hypertension and genotype was detected using the Kruskal-Wallis method. Mean plasma ACE activity (U/mL) in the DD (N = 28), DI (N = 45) and II (N = 13) groups was 43 (in males) and 52 (in females), 37 and 39, and 22 and 27, respectively; mean microalbuminuria (mg/dL) was 1.41 and 1.6, 0.85 and 0.9, and 0.6 and 0.63, respectively; mean HDL cholesterol (mg/dL) was 40 and 43, 37 and 45, and 41 and 49, respectively, and mean glucose (mg/dL) was 93 and 108, 107 and 98, and 85 and 124, respectively. A high level of ACE activity and albuminuria, and a low level of HDL cholesterol and glucose, were found to be associated with the DD genotype. Finally, the II genotype was found to be associated with variables related to glucose intolerance.

Low prevalence of non-insulin-dependent diabetes mellitus in indigenous comunities of Durango, Mexico

To determine the prevalence and associated risk factors of non-insulin-dependent diabetes mellitus (NIDDM) in inhabitants of traditional indigenous communities from Durango, Mexico, a transversal descriptive study was conducted. Tepehuano, Huichol and Mexicanero tribe members without racial admixture and a mminimal Western influence on lifestyle were studied. One hundred and ninety-three subjects were included, this figure corresponding to approximately 20 percent of subjects aged from 30 to 64 years of the target population. Glycemia was determined in capillary blood after an overnight fast 10-12 h, and 2 h after a 75 g oral glucose load using a Glucometer II device; NIDDM diagnosis was established according to the WHO criteria. Personal risk factor of NIDDM were determined. The average glucose level was 87.5 ñ 19.3 mg/dl. There were no NIDDM cases, hence the prevalence was 0.0 percent. The personal risk factors profile for NIDDM were as follows: 0.0 percent of cases with family history of NIDDM and with residency in urban areas =40 percent of their lifetime, 7.2 percent of obese subjects and 15.5 percent of subjects with alcohol intake =8 g/day. The absence of NIDDM suggests that this disease may be rae in traditional indigenous communities of Mexico and may be associated with less exposure to risk factors or genetic differences