Frequencies of variants in genes associated with dyslipidemias identified in Costa Rican genomes.

Dyslipidemias are risk factors in diseases of significant importance to public health, such as atherosclerosis, a condition that contributes to the development of cardiovascular disease. Unhealthy lifestyles, the pre-existence of diseases, and the accumulation of genetic variants in some loci contribute to the development of dyslipidemia. The genetic causality behind these diseases has been studied primarily on populations with extensive European ancestry. Only some studies have explored this topic in Costa Rica, and none have focused on identifying variants that can alter blood lipid levels and quantifying their frequency. To fill this gap, this study focused on identifying variants in 69 genes involved in lipid metabolism using genomes from two studies in Costa Rica. We contrasted the allelic frequencies with those of groups reported in the 1000 Genomes Project and gnomAD and identified potential variants that could influence the development of dyslipidemias. In total, we detected 2,600 variants in the evaluated regions. However, after various filtering steps, we obtained 18 variants that have the potential to alter the function of 16 genes, nine variants have pharmacogenomic or protective implications, eight have high risk in Variant Effect Predictor, and eight were found in other Latin American genetic studies of lipid alterations and the development of dyslipidemia. Some of these variants have been linked to changes in blood lipid levels in other global studies and databases. In future studies, we propose to confirm at least 40 variants of interest from 23 genes in a larger cohort from Costa Rica and Latin American populations to determine their relevance regarding the genetic burden for dyslipidemia. Additionally, more complex studies should arise that include diverse clinical, environmental, and genetic data from patients and controls and functional validation of the variants.

Gingival state and presence of red complex bacteria in 12-Year-Old schoolchildren / Estado gingival y presencia de bacterias del complejo rojo en escolares de 12 años

Abstract The objective of this study was to determine the gingival state and presence of red complex bacteria in saliva samples of 12-year-old schoolchildren. A calibrated periodontist evaluated biofilm index (BI) (Silness and Löe, 1964), presence of calculus, and gingival index (GI) (Silness and Löe, 1967) in sixty two 12-year-old students of Carmen Lyra School. Saliva samples were collected from each student. The DNA of each sample was extracted and amplified by the polymerase chain reaction (PCR) technique, using specific primers. The BI was 1.18. Calculus was present in 40.40% of the schoolchildren examined; 19.4% was supragingival calculus and 21% both supragingival and subgingival calculus. The GI was 0.97, which according to Silness and Löe is mild gingivitis. Gingivitis was present in 96.8% of the children examined. Regarding the PCR tests: 18 of the samples (31.58%) did not present any of the bacteria analyzed and the remaining 39 samples (68.42%) were positive for at least the presence of red complex bacteria. Within the limitations of this study, it is concluded that the prevalence of gingivitis and calculus is high in the sample examined, and the gingival state observed in the study population, may be related to the presence of red complex bacteria.

Resumen El objetivo de este estudio era determinar el estado gingival y la presencia de bacterias del complejo rojo en muestras de saliva de niños de 12 años de la Escuela Carmen Lyra. Una periodoncista calibrada evaluó en 62 estudiantes de 12 años de la Escuela Carmen Lyra, el índice de biofilme (IB) (Silness y Löe, 1964), la presencia de cálculo y el índice gingival (IG) (Silness y Löe, 1967). Se recolectaron muestras de saliva de cada estudiante. El ADN de cada muestra fue extraído y amplificado por medio de la prueba PCR, empleando primers específicos, para determinar la presencia de bacterias del complejo rojo. El IB fue de 1.18. El cálculo estuvo presente en el 40.40% de la muestra, se encontró 19.4% de cálculo en supragingival y 21% tanto en supragingival como en subgingival. El IG fue de 0.97, que de acuerdo con Silness y Löe es una gingivitis leve. La gingivitis estuvo presente en el 96.8 % de los niños examinados. Con respecto a las pruebas PCR: 18 de las muestras (31.58 %) no presentaron ninguna de las bacterias analizadas y las 39 muestras restantes (68.42%) fueron positivas por lo menos a la presencia de las bacterias del complejo rojo. Dentro de las limitaciones de este estudio, se concluye que la prevalencia de gingivitis y cálculo es alta en la muestra examinada y el estado gingival observado puede estar relacionado con la presencia de bacterias del complejo rojo.

Hematological reference values for Alouatta palliata (Primates: Atelidae) and Cebus imitator (Primates: Cebidae) from the Pacific Coast of Costa Rica / Valores de referencia hematológicos para Alouatta palliata (Primates: Atelidae) y Cebus imitator (Primates: Cebidae) de la costa Pacífica de Costa Rica

Abstract Introduction: Wildlife hematological patterns are fundamental for health monitoring, and allows elucidating variations both within and between populations. Among these, hematological parameters are particularly valuable to evaluate the health status of neotropical primate species in the wild. Objective: To define hematological reference values for two species of monkeys in Costa Rica. Methods: During 2014, we collected blood samples from free-ranging mantled howler monkeys, Alouatta palliata (17 females, 18 males) and white-faced capuchin monkeys, Cebus imitator (5 females, 7 males) in seven localities of the Costa Rican Pacific coast. Results: For both species, the hematological values were higher in males, and howler monkey populations differed significantly except for platelets. Conclusions: These hematological values, which differ by sex and locality, will help evaluate the health status of these neotropical primate populations.

Resumen Introducción: Los patrones hematológicos de la vida silvestre son fundamentales para el monitoreo de la salud y permiten dilucidar las variaciones tanto dentro como entre poblaciones. Entre estos, los parámetros hematológicos son particularmente valiosos para evaluar el estado de salud de las especies de primates neotropicales en la naturaleza. Objetivo: Definir valores de referencia hematológicos para dos especies de monos en Costa Rica. Métodos: Durante el 2014 recolectamos muestras de sangre de monos aulladores de manto, Alouatta palliata (17 hembras, 18 machos) y monos capuchinos cariblancos, Cebus imitador (5 hembras, 7 machos) en siete localidades de la costa Pacífica de Costa Rica. Resultados: Para ambas especies, los valores hematológicos fueron mayores en los machos, y las poblaciones de monos aulladores difirieron significativamente con excepción de las plaquetas. Conclusiones: Estos valores hematológicos, que difieren según el sexo y la localidad, ayudarán a evaluar el estado de salud de estas poblaciones de primates neotropicales.

¿Es la proteína C reactiva un indicador de riesgo periodontal? / Is C Reactive Protein a Risk Indicator for Periodontal Disease?

RESUMEN: La periodontitis es una enfermedad inflamatoria crónica, multifactorial, causada por microorganismos y caracterizada por la destrucción progresiva del tejido de soporte dental. En los últimos años se han realizado estudios que señalan cierta similitud y asociación entre la periodontitis y la enfermedad cardiovascular aterosclerótica. Esta relación se ha establecido por tener ciertos factores de riesgo en común y por producir incremento plasmático de la proteína C reactiva (P-CR). A esta proteína se le atribuyen características favorables como marcador inflamatorio. Este estudio busca establecer si existe algún tipo de relación, entre la periodontitis y los valores de la P-CR antes de iniciar el tratamiento periodontal, en un grupo de pacientes de la Facultad de Odontología de la Universidad de Costa Rica. Se hicieron exámenes periodontales a 30 pacientes y se obtuvo una muestra de sangre de cada uno para determinar la concentración de P-CR. Con respecto al valor de la P-CR, se encontró que el promedio fue de 3.72mg/L (IC95%: 2.06-5.38), lo que constituye un marcador de riesgo de moderado a severo. El 54% de los pacientes presentó enfermedad periodontal crónica generalizada, sin que se encontrara diferencia estadísticamente significativa por sexo (p=0.416), ni edad (p=0.477). El 43% de los pacientes padecía de enfermedad periodontal crónica localizada y el 3% de los pacientes presentaron gingivitis. Se observó que el género femenino mostró relativamente, un mayor riesgo cardiovascular respecto al género opuesto (p=0.640). No se encontró diferencia estadísticamente significativa en el valor de P-CR por sexo, edad o la presencia de otras enfermedades, aunque esta cifra fue mayor en los que presentaron enfermedades metabólicas (5.5mg/L) con respecto a quienes no las padecían (2.7mg/L).

ABSTRACT: Periodontitis is an inflammatory multifactorial chronic disease, caused by microorganisms that destroys periodontal tissues. In the last years, several studies have described an association between periodontitis and atherosclerotic cardiovascular disease. This relationship has been made since both diseases share the same risk factors and they both increase C reactive proteins levels. C-reactive protein (C-RP) is a well-known inflammatory marker. This study was designed to try to stablish the relationship between C-RP levels and periodontitis in a group of patients that need periodontal treatment at Odontology Faculty in Universidad de Costa Rica. Periodontal examinations were done to 30 patients and blood samples were taken. The mean value of C-RP found was 3.72mg/L (IC95%: 2.06-5.38) which represents a medium- high risk level. 54% of the patients had generalized chronic periodontitis, without statistical difference when compared gender (p=0.416) or age (p=0.477). 43% had chronic localized periodontitis and 3% gingivitis. Females showed a higher risk for cardiovascular disease (p=0.640). No statistical differences were found between C-RP values relating gender, age or other comorbilities, even though mean values were always higher in those suffering metabolic diseases (5.5mg/L) compared to those values from patients not suffering the same diseases (2.7mg/L).

Riesgo cardiovascular global en una población adulta mayor del área rural, Cantón de Garabito, Puntarenas / Global cardiovascular risk on an elderly population in a rural area in Garabito, Puntarenas, Costa Rica

Objetivo: determinar el riesgo cardiovascular global en las personas adultas mayores que asisten al Centro Diurno de Ancianos Josefina Ugalde, de Quebrada Ganado, Puntarenas. Métodos: estudio de tipo analítico y prospectivo, de una población adulta mayor que asiste al centro diurno. Entre agosto de 2012 y febrero de 2014, se recolectaron los datos demográficos, clínicos, biológicos y de gabinete. Se aplicó la escala de Framingham. Resultados: se estudió 61 personas (67% mujeres), con edad promedio de 75,7 años, sin diferencia estadística por sexo (p=0,199). La prevalencia de factores de riesgo cardiovascular fue: hipertensión arterial 68%; obesidad abdominal 59%; LDL elevado 48%; HDL bajo 39%; diabetes mellitus 37%; tabaquismo 32% y antecedentes cardiovasculares 18%. En los controles a los 12 y 18 meses, solamente demostraron una reducción significativa (p<0,001) en los niveles de LDL elevado (32%) y en el perímetro abdominal (40%). Los otros parámetros no se modificaron. A los 18 meses el riesgo cardiovascular global fue del 14%, distribuido de la siguiente manera: el 21,4% presentó riesgo cardiovascular bajo; el 47,6%, riesgo cardiovascular moderado, y el 31%, riesgo cardiovascular alto. Conclusión: los factores de riesgo cardiovascular clásicos de enfermedad aterosclerótica, son frecuentes y tratados de forma subóptima en la población estudiada, lo que se asocia a un riesgo cardiovascular global elevado.

Purpose: To determine the global cardiovascular risk of an elderly population attending the Josefina Ugalde Day-care Center for the Elderly in Quebrada Ganado, Puntarenas, Costa Rica. Methods: A prospective and analytical study of an elderly population that attends the day-care center. Between August 2012 and February 2014 demographic, clinical, biological and complementary studies were collected. The Framingham scale was used to determine cardiovascular risk. Results: A total of 61 persons were studied (67% female), the mean age of this population was 75.7 years; there was no statistical difference regarding gender (p=0.199). Cardiovascular risk factor prevalence was as follows: hypertension 68%, altered abdominal circumference 59%, elevated LDL cholesterol 48%, low HDL cholesterol 39%, diabetes mellitus 37%, smoking 32% and prior cardiovascular events 18%. Patient follow-up at 12 and 18 months revealed a relevant reduction (p< 0.001) in elevated LDL (32%) and abdominal circumference (40%). All other parameters remained unaltered. After 18 months, global cardiovascular risk was 14%, distributed as follows: 21.4% had low risk; 47.6% had moderate risk and 31% had high risk. Conclusion: The classic risk factors for atherosclerotic disease are frequent and treated in a suboptimal manner in the population studied. This is associated with a high global cardiovascular risk.

La suplantación en las pruebas de paternidad, ¿Una posibilidad? / The suplantation in paternity testing, a posibility?

Se presentan dos casos frustrados de suplantación en pruebas de paternidad comprobadas en la Unidad de Genética Forense (UGF), de la Sección de Bioquímica del Departamento de Ciencias Forenses (UGF/DCF) del Poder Judicial de Costa Rica. También se discuten algunos de los aspectos que se consideran fundamentales como parte de los procedimientos para evitar que la confiabilidad de las pruebas para la determinación de marcadores genéticos, se vea afectada por acciones premeditadas, dirigidas a romper la cadena de custodia y la presentación válida de los resultados en los tribunales de justicia. Palabras clave: Suplantación, ADN, marcadores STR, pruebas de paternidad (

Results of the GEP-ISFG collaborative study on the Y chromosome STRs GATA A10, GATA C4, GATA H4, DYS437, DYS438, DYS439, DYS460 and DYS461: population data.

The Spanish and Portuguese ISFG Working Group (GEP-ISFG) carried out a collaborative exercise in order to asses the performance of two Y chromosome STR tetraplexes, which include the loci DYS461, GATA C4, DYS437 and DYS438 (GEPY I), and DYS460, GATA A10, GATA H4 and DYS439 (GEPY II). The groups that reported correct results in all the systems were also asked to analyse a population sample in order to evaluate the informative content of these STRs in different populations. A total of 1020 males out of 13 population samples from Argentina, Brazil, Costa Rica, Macao, Mozambique, Portugal and Spain were analysed for all the loci included in the present study. Haplotype and allele frequencies of these eight Y-STRs were estimated in all samples. The lowest haplotype diversity was found in the Lara (Argentina) population (95.44%) and the highest (99.90%) in Macao (China). Pairwise haplotype analysis showed the relative homogeneity of the Iberian origin samples, in accordance with what was previously found in the European populations for other Y-STR haplotypes (http://www.ystr.org). As expected, the four non-Caucasian samples, Macao (Chinese), Mozambique (Africans), Costa Rica (Africans) and Argentina (Lara, Amerindians), show highly significant Phist values in the pairwise comparisons with all the Caucasian samples.

Results of the GEP-ISFG collaborative study on two Y-STRs tetraplexes: GEPY I (DYS461, GATA C4, DYS437 and DYS438) and GEPY II (DYS460, GATA A10, GATA H4 and DYS439).

A collaborative exercise was carried out by the Spanish and Portuguese ISFG Working Group (GEP-ISFG) in order to evaluate the performance of two Y-chromosome STR PCR tetraplexes, which include the loci DYS461, GATA C4, DYS437 and DYS438 (GEPY I), and DYS460, GATA A10, GATA H4 and DYS439 (GEPY II). The participating laboratories were asked to type three samples for the eight markers, using a specific amplification protocol. In addition, two control samples, with known haplotypes, were provided. The results obtained by the 13 different participating laboratories were identical, except for two laboratories that failed to type correctly the same two samples for GATA C4. By sequence analyses, two different GATA C4 allele structures were found. One control sample (allele 21) and two questioned samples (allele 22, correctly typed by all the laboratories, and allele 25) presented the following repeat structure: (TCTA)4(TGTA)2(TCTA)2(TGTA)2(TCTA)n, but different from the one found for allele 26 in one sample included in this exercise, as well as in the second control sample (allele 23), namely (TCTA)4(TGTA)2(TCTA)2(TGTA)2(TCTA)2(TGTA)2(TCTA)n. The collaborative exercise results proved that both Y-tetraplexes produce good amplification results, with the advantage of being efficiently typed using different separation and detection methodologies. However, since GATA C4 repeat presents a complex structure, with alleles differing in sequence structure, efficient denaturing conditions should be followed in order to avoid typing errors due to sizing problems.