Understanding the sources of marine litter in remote islands: The Galapagos islands as a case study.

Determining the sources of marine litter is necessary to mitigate this increasing global problem. Plastic bottles are useful tracers of marine litter and constitute the main item (24%) stranding on remote beaches in the Galapagos Islands. The aim of this study was to estimate the abundance of plastic bottles in remote beaches and inferred their sources. To do so, we collected plastic bottles at 60 remote Galapagos Island beaches from 2018 to 2022. 76% of beaches were qualified as badly polluted, with >34 bottles·100 m-1. Most identified bottles came from Peru (71%), followed by China (17%) and Ecuador (9%). Although most locally-sold products are made in Ecuador, they contribute little to beach litter loads. Polyethylene terephthalate bottles with lid (necessary for litter dispersal) represented 88% of all bottles, demonstrating that most of the litter reaching the Galapagos comes from distant sources, mainly from South America. However, bottle ages indicate that at least 10% of Peruvian, 26% of Ecuadorian, and all Chinese bottles likely were dumped from ships. Reducing marine litter reaching the Galapagos Islands requires tackling litter leakage from land-based sources in South America and better compliance with regulations banning the dumping of plastics and other persistent wastes from ships.

Effects of nebulized epinephrine in association with hypertonic saline for infants with acute bronchiolitis: A systematic review and meta-analysis.

Background: Nebulized epinephrine and hypertonic saline have been extensively studied in infants with acute bronchiolitis, with conflicting results. Aims: To evaluate the efficacy on length of stay (LOS), clinical severity scores (CSS), oxygen saturation (SaO2), and safety profile of nebulized epinephrine plus hypertonic saline (HS) in infants with acute bronchiolitis. Materials & Methods: This is a systematic review and meta-analysis. Outcomes were represented by mean differences (MD) or standard mean differences (SMD) and 95% confidence intervals (CIs) were utilized. Results: Eighteen trials were systematically selected and 16 of them contributed to the meta-analysis (1756 patients). Overall, a modest but significant positive impact was observed of the combination therapy on LOS (MD of -0.35 days, 95% CI -0.62 to -0.08, p = 0.01, I 2 = 91%). Stratification by time of CSS assessment unveiled positive results in favor of the combination therapy in CSS assessed 48 and 72 h after the admission (SMD of -0.35, 95% CI -0.62 to -0.09, p = 0.008, I 2 = 41% and SMD of -0.27, 95% CI -0.50 to -0.04, p = 0.02, I 2 = 0%, respectively). No difference in SaO2 was observed. Additional data showed a consistent safety profile, with a low rate of adverse events (1%), most of them mild and transient. Conclusion: Low-quality evidence from this systematic review suggests that nebulized epinephrine plus HS may be considered as a safe and efficient therapy for decreasing LOS and CSS in infants with acute bronchiolitis, especially in those who require hospitalization for more than 48 h.

Some environmental and biological determinants of coral richness, resilience and reef building in Galápagos (Ecuador).

Throughout the Galápagos, differences in coral reef development and coral population dynamics were evaluated by monitoring populations from 2000-2019, and environmental parameters (sea temperatures, pH, NO3-, PO43-) from 2015-19. The chief goal was to explain apparent coral community differences between the northern (Darwin and Wolf) and southern (Sta. Cruz, Fernandina, San Cristóbal, Española, Isabela) islands. Site coral species richness was highest at Darwin and Wolf. In the three most common coral taxa, a declining North (N)-South (S) trend in colony sizes existed for Porites lobata and Pocillopora spp., but not for Pavona  spp. Frequent coral recruitment was observed in all areas. Algal competition was highest at Darwin, but competition by bioeroding sea urchins and burrowing fauna (polychaete worms, bivalve mollusks) increased from N to S with declining coral skeletal density. A biophysical model suggested strong connectivity among southern islands with weaker connectivity to Wolf and even less to Darwin. Also, strong connectivity was observed between Darwin and Wolf, but from there only intermittently to the south. From prevailing ocean current trajectories, coral larvae from Darwin and Wolf drift primarily towards Malpelo and Cocos Islands, some reaching Costa Rica and Colombia. Mean temperature, pH, and PO43- declined from N to S. Strong thermocline shoaling, especially in the warm season, was observed at most sites. A single environmental factor could not explain the variability in observed coral community characteristics, with minimum temperature, pH and nutrient levels the strongest determinants. Thus, complex environmental determinants combined with larval connectivity patterns may explain why the northern Galápagos Islands (Darwin, Wolf) have higher coral richness and cover and also recover more rapidly than central/southern islands after region-wide disturbances. These northern islands are therefore potentially of critical conservation importance as important reservoirs of regional coral biodiversity and source of larvae.

State of corals and coral reefs of the Galápagos Islands (Ecuador): Past, present and future.

Coral populations and structural coral reefs have undergone severe reductions and losses respectively over large parts of the Galápagos Islands during and following the 1982-83 El Niño event. Coral tissue loss amounted to 95% across the Archipelago. Also at that time, all coral reefs in the central and southern islands disappeared following severe degradation and eventual collapse due primarily to intense bioerosion and low recruitment. Six sites in the southern islands have demonstrated low to moderate coral community (scattered colonies, but no carbonate framework) recovery. The iconic pocilloporid reef at Devil's Crown (Floreana Island) experienced recovery to 2007, then severe mortality during a La Niña cooling event, and is again (as of 2017) undergoing rapid recovery. Notable recovery has occurred at the central (Marchena) and northern islands (Darwin and Wolf). Of the 17 structural reefs first observed in the mid-1970s, the single surviving reef (Wellington Reef) at Darwin Island remains in a positive growth mode. The remainder either degraded to a coral community or was lost. Retrospective analyses of the age structure of corals killed in 1983, and isotopic signatures of the skeletal growth record of massive corals suggest the occurrence of robust coral populations during at least a 500-year period before 1983. The greatest potential threats to the recovery and persistence of coral reefs include: ocean warming and acidification, bioerosion, coral diseases, human population growth (increasing numbers of residents and tourists), overfishing, invasive species, pollution, and habitat destruction. Such a diverse spectrum of disturbances, acting alone or in combination, are expected to continue to cause local and archipelago-wide mortality and degradation of the coral reef ecosystem.

Polimorfismos intragénicos de los genes de los factores VIII y IX y su utilidad en el diagnóstico indirecto de portadoras de hemofilias A y B / Intragenic polymorphisms of factor VIII and IX genes and their utility in the indirect diagnosis of carriers of haemophilias A and B

Las Hemofilias A y B se consideran enfermedades hereditarias ligadas al sexo debidas a mutaciones en los genes que codifican para los factores VIII y IX respectivamente, ocasionando deficiencia en los niveles de la concentración plasmática de estas proteínas y cuyos roles son los de participar activamente en el mecanismo de la coagulación sanguínea. Se han reportado diversas mutaciones responsables de la alteración de estos genes; razón por la cual resulta poco práctico la aplicación de un método de diagnóstico molecular directo para la identificación de mujeres portadoras, por ello, una estrategia diagnóstica apropiada es el análisis indirecto de polimorfismos ligados al gen. El objetivo de este trabajo fue identificar mujeres portadoras en diversas familias con antecedentes de HA y HB residentes del estado Zulia, en Venezuela, caracterizando polimorfismos intragénicos de los genes del factor VIII y factor IX, los cuales permitieron asignar haplotipos y diagnosticar o descartar el estado portador al 95 por ciento de las mujeres que requerían el estudio para HA y al 100 por ciento para HB.

Haemophilia A and B are considered sex-linked inherited diseases caused by mutations in genes that encode factors VIII and IX, respectively. This results in the deficiency of these proteins plasma levels which are actively involved in the mechanism of blood coagulation. It has been reported that several mutations are responsible for the alteration of these genes, which is why the application of a molecular diagnostic method for the direct identification of female carriers is impractical. An appropriate diagnostic strategy is the indirect analysis of polymorphisms linked to the gene. The aim of this study was to identify female carriers in different families with history of HA and HB that live in Zulia State, Venezuela, characterizing intragenic gene polymorphisms of the clotting factors VIII and IX, which helped to identify and assign haplotypes, to diagnose or to exclude the carrying condition, to 95 percent of women who were needing the study for HA and to 100 percent for HB.

Gestión de la calidad de atención en laboratorios clínicos de hospitales públicos en Maracaibo, Venezuela / Managing the quality of attention in public hospitals' clinical laboratories in Maracaibo, Venezuela

Objetivo Evaluar la gestión de calidad de los laboratorios según la perspectiva de sus usuarios externos, determinándose las dimensiones de la calidad relacionadas con su satisfacción y con las características sociodemográficas. Métodos El estudio es descriptivo, la muestra estuvo conformada por 1 875 pacientes de consulta externa que asistieron a laboratorios de hospitales públicos tipo III y IV nivel de atención ubicados en el área metropolitana del Estado Zulia, entre Octubre a Diciembre de 2008. Se aplicó una encuesta previamente validada. Para el análisis, se empleó distribución de frecuencias, análisis multivariante y análisis de la varianza. Resultados Los resultados mostraron que la mayoría de los usuarios son pacientes de sexo femenino (72,7 por ciento), de procedencia local (87,9 por ciento); en edades entre 15 y 45 años (65,7 por ciento) y con grado de instrucción primaria y secundaria (70,5 por ciento). El análisis multifactorial demostró que el componente Gestión de Calidad, puede ser valorado por las dimensiones: Accesibilidad, Elementos tangibles, Capacidad de Respuesta, Competencias profesionales y Seguridad. Hubo diferencias altamente significativas (p<0,001) entre los distintos grados de instrucción y la edad al calificar la gestión de calidad. Se detectaron debilidades en cuanto a tiempo de espera en recepción, comodidad de la sala de espera y uso de medidas de seguridad del personal técnico. Conclusión Los resultados permitirán establecer acciones tendentes a evaluar el grado de mejoramiento del servicio y las metas propuestas en pro de mejorar la calidad de atención, medidas que formarán parte de un programa de aseguramiento de la calidad conforme la normativa internacional.

Objective Evaluating how clinical laboratories' quality was being managed according to the view of external users, thereby determining the dimensions of quality related to their satisfaction and sociodemographic characteristics. Methods The study was descriptive; the sample consisted of 1,875 outpatients attending the laboratories of type 3 and 4 care level public hospitals located in the metropolitan area of Zulia State in Venezuela between October and December 2008. A previously validated survey was applied. Frequency allocation, multivariate analysis and variance analysis were used for analysing data. Results The results showed that the most users were female (72.7 percent), of local origin (87.9 percent), aged between 15 and 45 (65.7 percent) and had received primary and secondary education (70.5 percent). Multivariate analysis showed that quality management could be evaluated in terms of accessibility, tangible elements, response ability, safety and professional competence. There were highly significant differences (p<0.001) between educational level and age when evaluating management quality. Weaknesses were revealed concerning time spent waiting in reception, waiting room comfort and safety measures used by technical staff. Conclusions The results should lead to establishing action aimed at evaluating the degree of improvement in service and proposed targets for improving the quality of attention; such measures will form part of a quality assurance programme in accordance with international standards.

[Biological fluid-related accidents amongst professionals working in clinical laboratories in Maracaibo, Venezuela]. / Accidentalidad por fluidos biológicos en profesionales de laboratorios clínicos de Maracaibo, Venezuela.

OBJECTIVE: Determining the occupational exposure to biological fluids of medical technicians working in public clinical laboratories caused by accidental percutaneous contact, associated factors and compliance with post-exposure biological measures. METHODS: This was a descriptive cross-sectional study. The sample consisted of 156 medical technicians assigned to clinical laboratories in the metropolitan area of Zulia state in Venezuela. Data was collected by applying an instrument for exploring exposure and related factors, as well as compliance with established post-biological exposure measures. RESULTS: There was evidence of exposure caused by percutaneous accidents, mainly represented by a moderate level of needle-pricks and cuts (2-3.99 mean). There was a moderate level of factors regarding percutaneous injury in the hands and fingers associated with hollow needles, blood and blood products and superficial severity in sample taking and processing areas when recapping needles or handling sharp or cutting objects. A medium level (2-3.99 mean) of compliance was obtained for post-exposure handling. A significant correlation was found (p<001) between percutaneous exposure and level of compliance with post-exposure management. CONCLUSION: The magnitude and characteristics of exposure to biological fluids detected in this work represents a problematic situation which can affect staff health and must be approached by institutions to ensure effective prevention management and risk control.

Accidentalidad por fluidos biológicos en profesionales de laboratorios clínicos de Maracaibo, Venezuela / Biological fluid-related accidents amongst professionals working in clinical laboratories in Maracaibo, Venezuela

Objetivo Determinar la exposición laboral accidental a fluidos biológicos por contacto percutáneo en el personal Bioanalista de Laboratorios Clínicos públicos, sus factores asociados y el cumplimiento de medidas post exposición biológica. Métodos Se realizó un estudio descriptivo transversal, la muestra fue de 156 bioanalistas adscritos a laboratorios clínicos del área metropolitana del estado Zulia. Para la recolección de datos se aplicó un instrumento de escalas que exploró la exposición percutánea, los factores vinculados y el cumplimiento de medidas post exposición biológica. Resultados Se evidenció exposición por accidentes percutáneos, representados principalmente por pinchazos y cortaduras, detectados en razón de su ocurrencia en un nivel moderado (media entre 2-3,99). Como factores vinculados a la accidentabilidad percutánea, se registra la ocurrencia en nivel moderado con diversas agujas huecas, con sangre y hemoderivados, en manos y dedos, con una severidad superficial, en áreas de toma y procesamiento de muestras durante el re-encapuchado de objetos punzo cortantes. Un nivel de mediano cumplimiento se obtuvo para el manejo post exposición. Existe relación entre la exposición percutánea con el nivel de cumplimiento detectado para el manejo post exposición p <0,001. Conclusión La magnitud y características de la exposición a fluidos biológicos detectada en este colectivo laboral reviste una problemática que puede impactar en la salud del personal y debe ser abordada institucionalmente para una efectiva gestión de prevención y control de riesgo.

Objective Determining the occupational exposure to biological fluids of medical technicians working in public clinical laboratories caused by accidental percutaneous contact, associated factors and compliance with post-exposure biological measures. Methods This was a descriptive cross-sectional study. The sample consisted of 156 medical technicians assigned to clinical laboratories in the metropolitan area of Zulia state in Venezuela. Data was collected by applying an instrument for exploring exposure and related factors, as well as compliance with established post-biological exposure measures. Results There was evidence of exposure caused by percutaneous accidents, mainly represented by a moderate level of needle-pricks and cuts (2-3.99 mean). There was a moderate level of factors regarding percutaneous injury in the hands and fingers associated with hollow needles, blood and blood products and superficial severity in sample taking and processing areas when recapping needles or handling sharp or cutting objects. A medium level (2-3.99 mean) of compliance was obtained for post-exposure handling. A significant correlation was found (p<001) between percutaneous exposure and level of compliance with post-exposure management. Conclusion The magnitude and characteristics of exposure to biological fluids detected in this work represents a problematic situation which can affect staff health and must be approached by institutions to ensure effective prevention management and risk control.

[Intragenic polymorphisms of factor VIII and IX genes and their utility in the indirect diagnosis of carriers of Haemophilias A and B]. / Polimorfismos intragénicos de los genes de los factores VIII y IX y su utilidad en el diagnóstico indirecto de portadoras de Hemofilias A y B.

Haemophilia A and B are considered sex-linked inherited diseases caused by mutations in genes that encode factors VIII and IX, respectively. This results in the deficiency of these proteins plasma levels which are actively involved in the mechanism of blood coagulation. It has been reported that several mutations are responsible for the alteration of these genes, which is why the application of a molecular diagnostic method for the direct identification of female carriers is impractical. An appropriate diagnostic strategy is the indirect analysis of polymorphisms linked to the gene. The aim of this study was to identify female carriers in different families with history of HA and HB that live in Zulia State, Venezuela, characterizing intragenic gene polymorphisms of the clotting factors VIII and IX, which helped to identify and assign haplotypes, to diagnose or to exclude the carrying condition, to 95% of women who were needing the study for HA and to 100% for HB.

[Managing the quality of attention in public hospitals' clinical laboratories in Maracaibo, Venezuela]. / Gestión de la calidad de atención en laboratorios clínicos de hospitales públicos en Maracaibo, Venezuela.

OBJECTIVE: Evaluating how clinical laboratories' quality was being managed according to the view of external users, thereby determining the dimensions of quality related to their satisfaction and sociodemographic characteristics. METHODS: The study was descriptive; the sample consisted of 1,875 outpatients attending the laboratories of type 3 and 4 care level public hospitals located in the metropolitan area of Zulia State in Venezuela between October and December 2008. A previously validated survey was applied. Frequency allocation, multivariate analysis and variance analysis were used for analysing data. RESULTS: The results showed that the most users were female (72.7 %), of local origin (87.9 %), aged between 15 and 45 (65.7 %) and had received primary and secondary education (70.5 %). Multivariate analysis showed that quality management could be evaluated in terms of accessibility, tangible elements, response ability, safety and professional competence. There were highly significant differences (p<0.001) between educational level and age when evaluating management quality. Weaknesses were revealed concerning time spent waiting in reception, waiting room comfort and safety measures used by technical staff. CONCLUSIONS: The results should lead to establishing action aimed at evaluating the degree of improvement in service and proposed targets for improving the quality of attention; such measures will form part of a quality assurance programme in accordance with international standards.

[Gly482Ser polymorphism of the coactivator-1alpha of the activated receptor of peroxisome gamma proliferation in individuals from Maracaibo, Venezuela]. / Polimorfismo Gly482Ser del gen coactivador-1alpha del receptor activado de proliferación de los peroxisomas gamma en individuos de la ciudad de Maracaibo, estado Zulia, Venezuela. Estudio preliminar.

The aim of this study was to determine the association of the Gly482Ser polymorphism of the PGC-1 gene with insulin resistance and type 2 diabetes mellitus in subjects from the city of Maracaibo. The study was performed on 64 no-diabetic subjects (36 without insulin resistance and 28 with insulin resistance) and 13 with type 2 diabetes. A clinical and nutritional history was carried out and the evaluation of anthropometric parameters was included. Fasting serum glucose, fasting serum insulin, total cholesterol, HDL-C and LDL-C, were measured. The Gly482Ser polymorphism was detected by PCR-RFLP. It was found that the allelic frequencies for A and G were 0.36 and 0.64, respectively. The population was found in genetic equilibrium of Hardy Weinberg. The genotypes of the polymorphism Gly482Ser were not associated with insulin resistance and type 2 diabetes mellitus (OR = 1.320, p = 0.74; OR = 2, p = 0.47 respectively). Nevertheless, the diabetic subjects with the genotype AA presented values of LDL-C higher (p < 0.05) than the individuals with the genotypes GG and GA. The diabetics with the genotype GA showed significantly higher concentrations of triglycerides (>150 mg/dL) compared with the genotype GG. According to the results, the polymorphism Gly482Ser of the PGC-1 gene would be able to contribute to the cardiovascular risk in type 2 diabetics, while in the insulin resistant individuals, this polymorphism was not associated with cardiovascular risk factors.

Polimorfismo Gly482Ser del gen coactivador-1a dl receptor activado de proliferación de los peroxisomas y en individuos de la ciudad de Maracaibo estado Zulia Venezuela: estudio preliminar / Gly482Ser polymorphism of the coactivator-1a of the activated receptor of peroxisone y proliferation in individuals from Maracaibo Venezuela

El objetivo de este estudio fue determinar la asociación entre el polimorfismo Gly482Ser del gen PGC-1 con resistencia a la insulina y la diabetes mellitus tipo 2 en individuos de la ciudad de Maracaibo. Se estudiaron 64 individuos no diabético (36 sin resistencia a la insulina, 28 resistentes a la insulina) y 13 diabéticos tipo 2. Se realizó una historia clínica nutricional que incluyó la evaluación de parámetros antropométricos. Se midieron los niveles de glicemia e insulina basal, colesterol total, HDL-C y LDL-C. El polimorfismo Gly482Ser fue detectado empleando la reacción en cadena de la polimerasa y polimorfismo de restricción de fragmentos largos. Se encontró que las frecuencias alélicas para A y G resultaron 0,36 y 0,64 respectivamente. La población se encontró en equilibrio genético de Hardy Weinberg. Al asociar los genotipos del polimorfismo Gly482Ser con la resistencia a la insulina y la diabetes mellitus tipo 2, no se encontró asociación estadística significativa (OR=1,320, p=0,74; OR=2, p=0,47 respectivamente). Sin embargo, los individuos diabéticos con genotipo AA presentaron valores de LDL-C más elevados (p<0,05) que los individuos con el genotipo GG y GA. Los diabéticos con el genotipo GA mostraron concentraciones significativamente elevadas de triglicéridos (>150 mg/dL) comparados con los del genotipo GG. De acuerdo a los resultados obtenidos, el polimorfismo Gly482Ser del gen PGC-1 podría contribuir al riesgo cardiovascular en los individuos diabéticos tipo 2, mientras que en los individuos resistentes a la insulina este polimorfismo no estuvo asociado a factores de riesgo cardiovascular.

The aim of this study was to determine the association of the Gly482Ser polymorphism of the PGC-1 gene with insulin resistance and type 2 diabetes mellitus in subjects from the city of Maracaibo. The study was performed on 64 no-diabetic subjects (36 without insulin resistance and 28 with insulin resistance) and 13 with type 2 diabetes. A clinical and nutritional history was carried out and the evaluation of anthropometric parameters was included. Fasting serum glucose, fasting serum insulin, total cholesterol, HDL-C and LDL-C, were measured. The Gly482Ser polymorphism was detected by PCR-RFLP. It was found that the allelic frequencies for A and G were 0.36 and 0.64, respectively. The population was found in genetic equilibrium of Hardy Weinberg. The genotypes of the polymorphism Gly482Ser were not associated with insulin resistance and type 2 diabetes mellitus (OR=1.320, p=0.74; OR = 2, p=0.47 respectively). Nevertheless, the diabetic subjects with the genotype AA presented values of LDL-C higher (p<0.05) than the individuals with the genotypes GG and GA. The diabetics with the genotype GA showed significantly higher concentrations of triglycerides (>150 mg/dL) compared with the genotype GG. According to the results, the polymorphism Gly482Ser of the PGC-1 gene would be able to contribute to the cardiovascular risk in type 2 diabetics, while in the insulin resistant individuals, this polymorphism was not associated with cardiovascular risk factors.

Polimorfismo Pro12Ala del gen PPAR-γ 2 y síndrome metabólico: Estudio preliminar / Pro12Ala polymorphism of the PPAR-gamma2 gene and the metabolic syndrome: Preliminary study

El objetivo de este estudio fue determinar la prevalencia del polimorfismo Pro12Ala del gen PPARgamma2 en individuos no emparentados con síndrome metabólico de la ciudad de Maracaibo. Se seleccionaron 50 individuos (22 con síndrome metabólico y 28 sin síndrome metabólico) entre 22 y 58 años. A cada individuo se le realizó una evaluación clínica, nutricional y bioquímica. Para analizar la secuencia de la variante Pro12Ala del gen PPAR se empleó PCR y digestión enzimática de los fragmentos de restricción del polimorfismo (PCR-RFLP). En los individuos con síndrome metabólico el porcentaje de portadores del alelo Ala fue de 13,6%, mientras que en el grupo sin síndrome metabólico fue de 32,14%. La frecuencia para el alelo Ala del polimorfismo Pro12Ala fue de 0,12 y para el alelo Pro fue de 0,88. Los individuos con síndrome metabólico y portadores del alelo Ala presentaron niveles más bajos de triglicéridos y col-HDL más alto. Se concluye que la presencia del alelo Ala en individuos con síndrome metabólico mostró un efecto protector sobre el perfil lipídico.

The aim of this paper was to determine the prevalence of the polymorphism pro12ala in non-related individuals with metabolic syndrome from Maracaibo-Venezuela. Fifty subjects (22 with metabolic syndrome and 28 without metabolic syndrome) between 22 to 58 years of age were selected. For each individual, biochemical, nutritious, and clinical evaluations were carried out. PCR and restriction-fragment length polymorphism enzyme digestion were used to analyze the Pro12Ala sequence variant of the PPAR gene. The distribution of the Ala allele was 13.6% in the individuals with metabolic syndro- and 32.14% in the group without metabolic syndrome. The frequency distributions of the PPAR gamma sequence variants were 0.12 for Ala variant and 0.88 for Pro. The subjects with the metabolic syndrome and carriers of the Ala 12 allele had lower concentration of triglycerides and higher HDL-C. It can be concluded that the Ala12 allele in individuals with metabolic syndrome had a protective effect on the lipid profile.

[Indirect prenatal molecular diagnostic of haemophilia A and B]. / Diagnóstico prenatal molecular indirecto de Hemofilia A y B.

Haemophilia A (HA) and B (HB) are the most common inherited bleeding diseases. HA and HB are X-linked recessive disorders caused by mutation in the factor VIII gene which maps to Xq28 and factor IX located at Xq27, respectively; resulting in absence or deficiency of these proteins. Several mutations have been reported as responsible for the disturbance of these genes; therefore, the use of direct molecular techniques to analyze the carrier status of women and their affected fetuses in not easy to perform. Thus, gene linked polymorphisms analysis is the most convenient molecular test since it is independent from the nature of the mutation, allowing the identification of the mutant X chromosome by following its segregation along the pedigree. The main objective of this research was to perform the molecular diagnosis of HA or HB carrier status in pregnant women and male fetuses affected or not, who were referred to the Medical Genetic Unit of the University of Zulia (UGM-LUZ), Maracaibo, Venezuela. Molecular analysis for HA and HB was performed in 32 DNA samples from 8 pregnant women, 8 fetuses, 8 affected and 8 healthy males. Using the Polymerase Chain Reaction (PCR), a 142 bp (bases pairs) fragment, which corresponds to intron 18 of the Factor VIII gene, was amplified. This fragment has a restriction polymorphism for the enzyme Bcl I. Additionally, a Duplex PCR was performed for the STRs (short tandem repeat) of introns 13 and 22 of the same gene. On the other hand, Hinf I, Xmn I y Taq I polymorphism in the factor IX gene were also amplified, so, we were able to build the haplotypes for each one of the key members in the families affected. The latter, allowed us to identify, in five of the eight cases, the mutant X chromosome responsible of HA and HB, thus, prenatal diagnosis was possible with the following results: three healthy males fetuses, two affected males fetuses with HA and three females fetuses.

Diagnóstico prenatal molecular indirecto de hemofilia A y B / Indirect prenatal molecular diagnostic of haemophilia A and B

La hemofilia A (HA) y B (HB), son enfermedades hereditarias de la coagulación sanguínea, su mecanismo de transmisión es recesivo ligado al cromosoma X y son debidas a mutaciones en los genes que codifican respectivamente para el factor VIII, localizado en Xq28 y para el factor IX, localizado en Xq27; esto ocasiona deficiencia o ausencia de estas proteínas en el plasma. Múltiples mutaciones son responsables de la alteración en estos dos genes, razón por la cual resulta poco práctica la aplicación de un método de diagnóstico molecular directo en la identificación de mujeres portadoras y de fetos afectados; por ello, la estrategia diagnóstica adecuada es el empleo de polimorfismos ligados al gen, los cuales son independientes de la mutación y su análisis permite seguirle la pista al cromosoma X portador de la mutación, apoyándose en el estudio del árbol genealógico familiar. El objetivo de este trabajo fue identificar desde el punto de vista molecular, gestantes portadoras de HA o HB y fetos varones afectados o no por estas enfermedades, referidos a la Unidad de Genética Médica de la Universidad del Zulia (UGM-LUZ), Maracaibo, Venezuela. Se analizaron 32 muestras de DNA correspondientes a 8 gestantes, 8 fetos, 8 varones afectados y 8 varones sanos para el factor VIII. A través de la reacción en cadena de la polimerasa (PCR), se amplificó un fragmento de 142 pares de bases (pb) que corresponde al intrón 18 del gen, el cual contiene un polimorfismo de restricción para la enzima BclI y a través de PCR duplex se amplificaron secuencias STRs de los intrones 13 y 22, y para el factor IX, se amplificaron los polimorfismos HinfI, XmnI y TaqI; se pudieron elaborar los haplotipos respectivos en las personas clave de las familias afectadas, que permitieron identificar en 5 de las 8 familias al cromosoma X portador de la mutación responsable de estas enfermedades, logrando diagnosticar tres fetos varones sanos, dos fetos varones afectados con HA y tres fetos hembras.

[High prevalence of hepatitis B infection in Amerindians in Japreira, Zulia State, Venezuela]. / Alta prevalencia de la infección por el virus de hepatitis B en la comunidad indígena Japreira, Estado Zulia, Venezuela.

The aim of this study was to determine the prevalence of hepatitis B virus (HBV) infection in the Japreira indigenous community, Venezuela, and its relationship to age and gender. An intentional, non-probabilistic sample of 149 individuals was selected from a total of 300. All samples were studied for the presence of total HBV antibodies (total anti-HBc), and the positive samples were tested for HBV surface and "e" antigens (HBsAg, HBeAg). Overall prevalence rates of total anti-HBc were 72.9% in females and 81.1% in males. The highest prevalence of HBsAg was observed in males 26-35 years of age. Only four of the 44 HBsAg carriers were positive for HBeAg. The results showed a high endemic HBV infection rate and indicated that its spread begins at early ages. Sexual transmission may be the main route for spread of the virus. Crowding, close contact with bodily fluids, specific social practices, and features of the circulating viral strain among members of this community could be involved in the high chronicity observed in the Japreira indigenous community.

Alta prevalencia de la infección por el virus de hepatitis B en la comunidad indígena Japreira, Estado Zulia, Venezuela / High prevalence of hepatitis B infection in Amerindians in Japreira, Zulia State, Venezuela

A fin de conocer la prevalencia de la infección por el virus de hepatitis B (VHB) en la comunidad indígena Japreira, Venezuela, y determinar las pautas de su adquisición en función de la edad y sexo, se seleccionaron 149 individuos de un total de 300. Se detectó por métodos serológicos la presencia de anticuerpos totales del VHB (anti-HBc total), y en las positivas se investigó la presencia del antígeno de superficie (HBsAg) y del antígeno e del VHB (HBeAg). La prevalencia de anti-HBc total fue de 72,9 por ciento en el sexo femenino y 81,1 por ciento en el masculino, la prevalencia de HBsAg fue elevada (61,1 por ciento) en el sexo masculino, sólo cuatro de los portadores de HBsAg fueron positivos para HBeAg. Los resultados obtenidos indican un grado elevado de endemia para esta infección y que su diseminación comienza a temprana edad. El factor involucrado en la adquisición y diseminación del virus seria la vía sexual. Hacinamiento, contacto intercorpóreo con fluidos biológicos, prácticas sociales, y características de la cepa viral circulante podrían estar involucradas en la alta cronicidad observada en la comunidad indígena Japreira.

The aim of this study was to determine the prevalence of hepatitis B virus (HBV) infection in the Japreira indigenous community, Venezuela, and its relationship to age and gender. An intentional, non-probabilistic sample of 149 individuals was selected from a total of 300. All samples were studied for the presence of total HBV antibodies (total anti-HBc), and the positive samples were tested for HBV surface and e antigens (HBsAg, HBeAg). Overall prevalence rates of total anti-HBc were 72.9 percent in females and 81.1 percent in males. The highest prevalence of HBsAg was observed in males 26-35 years of age. Only four of the 44 HBsAg carriers were positive for HBeAg. The results showed a high endemic HBV infection rate and indicated that its spread begins at early ages. Sexual transmission may be the main route for spread of the virus. Crowding, close contact with bodily fluids, specific social practices, and features of the circulating viral strain among members of this community could be involved in the high chronicity observed in the Japreira indigenous community.

[Molecular analysis of microdeletions of the Y chromosome in Venezuelan males with idiopathic infertility]. / Frecuencia de microdeleciones del cromosoma Y en hombres venezolanos con infertilidad idiopática.

Today infertility is a major health problem affecting about 10-20% of couples. A male factor is assumed to be responsible in about 50% of the infertile couples. The origin of reduced testicular sperm function is unknown in about 60-70% of cases. There are several causes of male infertility such as varicocele, spermatic duct obstruction, and endocrine disorders. Micro-deletions in the Yq are known to represent the pathogenic mechanisms for infertile males. Three different non-overlapping regions designated as AZFa, AZFb, and AZFc are located in interval 5-6 of Yq, and are associated with impaired spermatogenesis in humans. To determine the prevalence of Y chromosomal microdeletions in Venezuelan males with idiopathic infertility, chromosomal, seminal, histological and molecular analyses were carried out in 29 Venezuelan males with idiopathic azoospermia or oligoospermia. Y-microdeletions analyses were performed using a multiplex polymerase chain reaction (PCR)-based technique with 22 sequences-tagged-sites (STSs). One of 29 patients (3.4%) had Yq microdeletions on AZFc. The frequency of AZF microdeletions in Venezuelan patients was similar to other populations with different ethnical or geographical origin.

Frecuencia de microdeleciones del cromosoma y en hombres venezolanos con infertilidad idiopática / Molecular analysis of microdeletions of the y chromosome in venezuelan males with idiopathic infertility

La infertilidad hoy día es un problema de salud importante que afecta cerca de 10-20 por ciento de las parejas. El factor masculino es el responsable del 50 por ciento de las parejas infértiles. Se desconoce el origen de la reducción espermática en cerca del 60-70 por ciento de casos. Existen varias causas de la infertilidad masculina tales como varicocele, obstrucción espermática del conducto y desórdenes endocrinos. Tres regiones diferentes no solapantes conocidas como AZFa, AZFb, y AZFc localizadas en el intervalo 5-6 del brazo largo del cromosoma Y (Yq), han sido asociadas a falla espermatogénica en humanos. El objetivo de este trabajo fue determinar la frecuencia de las microdeleciones del cromosoma Y en hombres venezolanos con infertilidad idiopática. Se realizó análisis cromosómico, seminal, histológico y molecular en 29 hombres venezolanos con azoospermia u oligozoospermia idiopática. El análisis molecular se efectuó a través de la Reacción en Cadena de la Polimerasa (RCP) múltiple de 22 STS. Se detectaron microdeleciones en la región AZFc del cromosoma Y en 1 de 29 pacientes (3,4 por ciento). Estos resultados sugieren que la frecuencia de las microdeleciones del cromosoma Y en pacientes venezolanos, es similar a la de otras poblaciones con diferente origen geográfico y étnico

Análisis del polimorfismo Bsm I del gen receptor de la vitamina D (VDR) en pacientes venezolanas residentes del estado Zulia con osteoporosis

Resumen. Dentro de los genes implicados en el estudio de la genética de la osteoporosis, el más conocido es el gen receptor de la vitamina D (VDR), estudiado a través de la caracterización del polimorfismo Bsm I. En tal sentido, esta investigación tuvo como objetivo principal analizar el polimorfismo Bsm I del gen de VDR en una muestra de 133 mujeres posmenopáusicas distribuidas en tres grupos: 54 afectadas con osteoporosis, 24 con osteopenia y 55 controles normales para la enfermedad. De las mujeres con osteoporosis 28 presentaron el genotipo BB, asociado en otros países con disminución de la densidad mineral ósea, 20 presentaron el genotipo Bb y 6 el genotipo bb. Del grupo control sólo 11 mujeres presentaron el genotipo BB, 36 mostraron el genotipo heterocigoto Bb y 8 el genotipo bb. La frecuencia de los alelos B y b en la población general analizada resultó de 0,6 y 0,4, respectivamente. El genotipo BB se encontró en un 52% del grupo con osteoporosis y en un 20% en el grupo control normal, siendo estos hallazgos significativos estadísticamente, lo cual sugiere una asociación entre el genotipo BB y la osteoporosis.

Abstract. Among genes implied on the osteoporosis genetics, the most studied gene worldwide is the receptor gene of D vitamin (VDR), through the characterization of Bsm I polymorphism. The main objective of this research was to analyze the Bsm I polymorphism of the VDR gene in a sample of 133 postmenopausal women distributed in three groups: 54 with osteoporosis, 24 with osteopenia and 55 normal controls for the disease. 28 of the women with osteoporosis presented the BB genotype, which is related in others countries to bone mineral density decrease, 20 had the Bb genotype, and 6 the bb genotype. Of the control group only 11 women presented the BB genotype, 36 showed the heterozygote genotype and 8 the bb genotype. The frequencies of the B and b alleles in the analyzed population were 0.6 and 0.4 respectively. The BB genotype was found in 52% of the group with osteoporosis, and in 20% of the control group, these findings are statistically significant, which suggest an association between the BB genotype and osteoporosis.