Adaptación transcultural de la versión colombiana de la Escala de Soledad de UCLA en pacientes con diagnóstico de cáncer / Transcultural adaptation of the Colombian version of the UCLA Loneliness Scale in patients diagnosed with cancer

Resumen Introducción: La soledad no deseada es un constructo que se ha relacionado con desenlaces negativos en diferentes aspectos de la salud, incluidos aquellos de los pacientes con cáncer. La escala de soledad de UCLA es un instrumento ampliamente utilizado en el contexto de investigación en salud para medir dicho constructo, y en Colombia la versión 03 de dicho instrumento no se encuentra traducida, ni adaptada transculturalmente. Objetivo: Traducir y adaptar transculturalmente la escala de soledad de UCLA, versión 03 para su uso en pacientes con cáncer en Colombia. Métodos: El proceso de traducción y adaptación transcultural siguió la metodología propuesta por el grupo EORTC, con el objetivo de lograr la equivalencia semántica con la versión original de la escala disponible en inglés. Se realizó una prueba piloto con 20 pacientes colombianos diagnosticados con diferentes tipos de cáncer, que asistieron al Instituto Nacional de Cancerología de Colombia. Resultados: No hubo cambios ni en la traducción de instrucciones ni en las opciones de respuesta. En la versión conciliada se modificó el ítem UC1. En la prueba piloto, dos de 20 pacientes informaron que los ítems UC6, UC7, UC11 y UC19 deberían ser modificados y un paciente mencionó que el ítem UC8 era difícil de entender; sin embargo, no se hicieron cambios dado el bajo número de pacientes que reportaron estos hallazgos, y las sugerencias planteadas podían cambiar el sentido y la equivalencia de los ítems de la escala original. Ninguno de los ítems fue ofensivo para los pacientes. Conclusión: Se generó una versión traducida y adaptada transculturalmente para ser validada en pacientes con cáncer en Colombia.

Abstract Introduction: Unwanted loneliness is a construct that has shown relationships with different negative outcomes of health, including those of patients with cancer. In the context of health research, the UCLA loneliness scale is a widely used instrument for measuring this construct. In Colombia, the 03 version of this instrument has still not been neither translated, nor transculturally adapted. Objective: To translate and perform transcultural adaptation of the UCLA loneliness scale, version 03 for its use in patients having cancer in Colombia. Methods: The process of translation and transcultural adaptation followed the methodology proposed by the EORTC group, aimed at achieving semantic equivalence with the original version of the scale. A pilot test has been made with 20 Colombian patients diagnosed with different types of cancer, attending the Instituto Nacional de Cancerología, Colombia. Results: In the reconciliated version, item UC1 has been modified. There has been not changes neither in translation of instructions, nor in response options. In pilot testing two out of 20 patients reported that items UC6, UC7, UC11 y UC19 should be modified and one patient mentioned that item UC8 was difficult to understand; however, no changes were made taking into account the low number of patients describing similar findings, and because these suggestions could change the semantic equivalence of these items. No items were deemed offensive. Conclusion: It is available a transculturally adapted version of the UCLA loneliness scale, version 03 for its validation in patients with cancer in Colombia.

Second GHEP-ISFG exercise for DVI: "DNA-led" victims' identification in a simulated air crash.

The Spanish and Portuguese-Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) has organized a second collaborative exercise on a simulated case of Disaster Victim Identification (DVI), with the participation of eighteen laboratories. The exercise focused on the analysis of a simulated plane crash case of medium-size resulting in 66 victims with varying degrees of fragmentation of the bodies (with commingled remains). As an additional difficulty, this second exercise included 21 related victims belonging to 6 families among the 66 missings to be identified. A total number of 228 post-mortem samples were represented with aSTR and mtDNA profiles, with a proportion of partial aSTR profiles simulating charred remains. To perform the exercise, participants were provided with aSTR and mtDNA data of 51 reference pedigrees -some of which deficient-including 128 donors for identification purposes. The exercise consisted firstly in the comparison of the post-mortem genetic profiles in order to re-associate fragmented remains to the same individual and secondly in the identification of the re-associated remains by comparing aSTR and mtDNA profiles with reference pedigrees using pre-established thresholds to report a positive identification. Regarding the results of the post-mortem samples re-associations, only a small number of discrepancies among participants were detected, all of which were from just a few labs. However, in the identification process by kinship analysis with family references, there were more discrepancies in comparison to the correct results. The identification results of single victims yielded fewer problems than the identification of multiple related victims within the same family groups. Several reasons for the discrepant results were detected: a) the identity/non-identity hypotheses were sometimes wrongly expressed in the likelihood ratio calculations, b) some laboratories failed to use all family references to report the DNA match, c) In families with several related victims, some laboratories firstly identified some victims and then unnecessarily used their genetic information to identify the remaining victims within the family, d) some laboratories did not correctly use "prior odds" values for the Bayesian treatment of the episode for both post-mortem/post-mortem re-associations as well as the ante-mortem/post-mortem comparisons to evaluate the probability of identity. For some of the above reasons, certain laboratories failed to identify some victims. This simulated "DNA-led" identification exercise may help forensic genetic laboratories to gain experience and expertize for DVI or MPI in using genetic data and comparing their own results with the ones in this collaborative exercise.

A GHEP-ISFG collaborative study on the genetic variation of 38 autosomal indels for human identification in different continental populations.

A collaborative effort was carried out by the Spanish and Portuguese Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) to promote knowledge exchange between associate laboratories interested in the implementation of indel-based methodologies and build allele frequency databases of 38 indels for forensic applications. These databases include populations from different countries that are relevant for identification and kinship investigations undertaken by the participating laboratories. Before compiling population data, participants were asked to type the 38 indels in blind samples from annual GHEP-ISFG proficiency tests, using an amplification protocol previously described. Only laboratories that reported correct results contributed with population data to this study. A total of 5839 samples were genotyped from 45 different populations from Africa, America, East Asia, Europe and Middle East. Population differentiation analysis showed significant differences between most populations studied from Africa and America, as well as between two Asian populations from China and East Timor. Low FST values were detected among most European populations. Overall diversities and parameters of forensic efficiency were high in populations from all continents.

A multiplex assay to detect variations in the CYP2C9, VKORC1, CYP4F2 and APOE genes involved in acenocoumarol metabolism.

OBJECTIVES: We have developed a genotyping system to determine the alleles of genes related to interindividual variability in acenocoumarol dosage requirements. This genotyping system is intended for routine clinical use and therefore it is essential that it be simple, fast and inexpensive. DESIGN AND METHODS: We developed a PCR multiplex SNaPshot reaction that targets 6 SNPs (single nucleotide polymorphisms) in CYP2C9, CYP4F2, VKORC1 and APOE genes, which are associated with acenocoumarol dose requirements. RESULTS: We tested the multiplex in 152 samples and found it to be 100% concordant with the results of other methods. CONCLUSIONS: We successfully produced a reliable multiplex system for simultaneously typing 6 SNPs. This system may be used as a model for accurate, simple and inexpensive genotyping of SNPs related to dose requirements. This information allows the prediction of drug efficiency in patients prior to treatment with acenocoumarol and the prevention of adverse drug reactions.

GHEP-ISFG proficiency test 2011: Paper challenge on evaluation of mitochondrial DNA results.

The GHEP-ISFG Working Group performed a collaborative exercise to monitor the current practice of mitochondrial (mt)DNA reporting. The participating laboratories were invited to evaluate a hypothetical case example and assess the statistical significance of a match between the haplotypes of a case (hair) sample and a suspect. A total of 31 forensic laboratories participated of which all but one used the EMPOP database. Nevertheless, we observed a tenfold range of reported LR values (32-333.4), which was mainly due to the selection of different reference datasets in EMPOP but also due to different applied formulae. The results suggest the need for more standardization as well as additional research to harmonize the reporting of mtDNA evidence.

In search of the pre- and post-neolithic genetic substrates in Iberia: evidence from Y-chromosome in Pyrenean populations.

The male-mediated genetic legacy of the Pyrenean population was assessed through the analysis of 12 Y-STR and 27 Y-SNP loci in a sample of 169 males from 5 main geographical areas in the Spanish Pyrenees: Cinco Villas (Western Pyrenees), Jacetania and Valle de Arán (Central Pyrenees) and Alto Urgel and Cerdaña (Eastern Pyrenees). In the Iberian context, the Pyrenean samples present some specificities, being characterizeded by a high proportion of chromosomes R1b1b2-M269 (including the usually uncommon R1b1b2d-SRY(2627) and R1b1b2c-M153 types) or I2a2-M26 and low proportions of other haplogroups. Our results indicate that an old pre-Neolithic substrate is preponderant in populations of the whole Pyrenean fringe. However, AMOVA revealed a high level of substructure within Pyrenean populations, partially explained by drift effects as well as by the signature of an ancient genetic differentiation between Western and Eastern Pyrenees.

2006 GEP-ISFG collaborative exercise on mtDNA: reflections about interpretation, artefacts, and DNA mixtures.

We report the results of the seventh edition of the GEP-ISFG mitochondrial DNA (mtDNA) collaborative exercise. The samples submitted to the participant laboratories were blood stains from a maternity case and simulated forensic samples, including a case of mixture. The success rate for the blood stains was moderate ( approximately 77%); even though four inexperienced laboratories concentrated about one-third of the total errors. A similar success was obtained for the analysis of mixed samples (78.8% for a hair-saliva mixture and 69.2% for a saliva-saliva mixture). Two laboratories also dissected the haplotypes contributing to the saliva-saliva mixture. Most of the errors were due to reading problems and misinterpretation of electropherograms, demonstrating once more that the lack of a solid devised experimental approach is the main cause of error in mtDNA testing.

[Seroepidemiology of toxoplasmosis in a marginal community of the Municipality of Maracaibo, Zulia State, Venezuela]. / Seroepidemiología de la toxoplasmosis en una comunidad marginal del Municipio Maracaibo, Estado Zulia, Venezuela.

The goal of this study was to determine the prevalence of anti-Toxoplasma gondii antibodies in a marginal community of the Municipality of Maracaibo, Zulia State, Venezuela and if there was a relationship between risk factors and infection. An epidemiological survey of personal data, living sanitary conditions and contact with cats was performed. A collection of 254 blood samples from male and female individuals, with ages ranging from 8 months to 76 years, was studied. Anti-Toxoplasma gondii reaction was determined by indirect hemaglutination using a commercial kit. A positive reaction at a dilution > or = 1:64 was considered positive. Statistical analysis was performed using the Chi-squared test. The prevalence of infection was found to be 36.6%. It was observed that 21.5% of the seropositive presented titers not considered significant (< or = 1:64), 51.6% had intermediate titers (1:128 to 1:512), 24.8% high titers (1:1024 to 1:4096) and 2.1% very high titers (> or = 1:8192). The highest percentage of positivity (50%) was observed in the group > or = 46 years of age. No statistically significant association was observed between prevalence and risk factors (living together with cats and poor sanitary conditions of living) or infection when the chi-square test was used. Toxoplasma gondii infection was often found in the community of Puerto Caballo and probably cats and poor living conditions have a role in the transmission of infection.

Cryptosporidium parvum in children with diarrhea in Zulia State, Venezuela.

The prevalence and importance of Cryptosporidium parvum as a causal agent of acute diarrhea among pediatric patients from Zulia State, Venezuela was assessed. Single stool specimens were collected from 310 children 0-60 months of age with acute diarrheal disease who were admitted to three public hospitals and from 150 comparable control children without gastrointestinal symptoms who were seen as outpatients. Cryptosporidium parvum oocysts were identified in 35 (11.2%) of 310 children with diarrhea and the coccidium was the single detectable pathogen in only 12 (34.2%). Other potential pathogenic parasites were present in most of the patients shedding oocysts (23 of 35, 65%). In nondiarrheal control children, oocysts were identified in nine (6%) of 150. The data suggest that C. parvum is relatively highly endemic in children 0-60 months of age in Zulia State and that although C. parvum may be an important pathogen associated with diarrhea, it may be a cause of only a small proportion of diarrheal episodes.

Maternidad adolescente / Adolescent maternity

El embarazo en las adolescentes se ha considerado de riesgo elevado por presentar una mayor morbi-mortalidad materno-fetal que los embarazos en la mujeres adultas. Presentamos en este trabajo un estudio descriptivo, retrospectivo, de corte transversal en el que se analizan las características de embarazo y parto de madres adolescentes en el Hospital Materno-Infantil de Málaga. El total de casos estudiados es de 454 adolescentes, atentidas durante el período comprendido entre el 1 de enero de 1992 y el 31 de diciembre de 1993. La incidencia de partos de adolescentes es de 2,85 (por ciento), sobre un total de 15,876 partos totales ocurridos en este Hospital durante este período

Prevalence of Entamoeba histolytica and other intestinal parasites in a community from Maracaibo, Venezuela.

The prevalences of Entamoeba histolytica and other intestinal parasites were assessed in a suburban community of Maracaibo, Venezuela, by examination of a stool specimen from each of 342 individuals, using iron-haematoxylin stained faecal smears and formalin-ether concentration. The overall parasitic infection rate was 80.4%, and 65.8% of the population had multiple infections. The overall amoebic infection rate, which was highest in female adults, averaged 39.7%. The E. histolytica infection rate was 8.7% and most of those infected were passing cysts. Entamoeba polecki was observed in two samples. Amongst the protozoa, Entamoeba coli was observed most frequently (24.8%) and Giardia lamblia was the predominant pathogen (13.0%). Trichuris trichiura (71.9%) and Ascaris lumbricoides (54%) were the most common parasites, particularly in school-children. The high rates of parasitic and multiple infections reflect the low socio-economic status of the community studied.

Effect of three dietary treatments upon the histopathology of jejunal biopsies of children with chronic diarrhea.

Thirty two children with chronic diarrhea of unknown etiology were prospectively investigated in a special hospitalization unit. They were all under 5 percentile for weight/height (NCHS). They had no edema and their age range was between three and eighteen months. The patients were given cow's milk and following the first jejunal biopsy they were fed one of three different diets as their only intake for a period of 15 days. The diets consisted of cow's milk and of two semi-elemental diets with different carbohydrate compositions. A second biopsy was taken at the conclusion of the specific diet. The jejunal biopsies were taken with a Crosby capsule just after the duodenal-jejunal junction and were analyzed by light microscopy. The morphological changes before and after 15 days of dietary treatment were evaluated. The children on semi-elemental diets showed a marked reduction of the number of interepithelial lymphocytes, and of lymphocytes in lamina propria. The infants on cow's milk showed no improvement. Our results suggest that cow's milk could be the cause of the persistent mucosal alterations observed in these infants.