Fibroblasts as an in vitro model of circadian genetic and genomic studies: A temporal analysis.

Bipolar disorder (BD) is a heritable disorder characterized by shifts in mood that manifest in manic or depressive episodes. Clinical studies have identified abnormalities of the circadian system in BD patients as a hallmark of underlying pathophysiology. Fibroblasts are a well-established in vitro model for measuring circadian patterns. We set out to examine the underlying genetic architecture of circadian rhythm in fibroblasts, with the goal to assess its contribution to the polygenic nature of BD disease risk. We collected, from primary cell lines of 6 healthy individuals, temporal genomic features over a 48 hour period from transcriptomic data (RNA-seq) and open chromatin data (ATAC-seq). The RNA-seq data showed that only a limited number of genes, primarily the known core clock genes such as ARNTL, CRY1, PER3, NR1D2 and TEF display circadian patterns of expression consistently across cell cultures. The ATAC-seq data identified that distinct transcription factor families, like those with the basic helix-loop-helix motif, were associated with regions that were increasing in accessibility over time. Whereas known glucocorticoid receptor target motifs were identified in those regions that were decreasing in accessibility. Further evaluation of these regions using stratified linkage disequilibrium score regression (sLDSC) analysis failed to identify a significant presence of them in the known genetic architecture of BD, and other psychiatric disorders or neurobehavioral traits in which the circadian rhythm is affected. In this study, we characterize the biological pathways that are activated in this in vitro circadian model, evaluating the relevance of these processes in the context of the genetic architecture of BD and other disorders, highlighting its limitations and future applications for circadian genomic studies.

Geospatial investigations in Colombia reveal variations in the distribution of mood and psychotic disorders.

BACKGROUND: Geographical variations in mood and psychotic disorders have been found in upper-income countries. We looked for geographic variation in these disorders in Colombia, a middle-income country. We analyzed electronic health records from the Clínica San Juan de Dios Manizales (CSJDM), which provides comprehensive mental healthcare for the one million inhabitants of Caldas. METHODS: We constructed a friction surface map of Caldas and used it to calculate the travel-time to the CSJDM for 16,295 patients who had received an initial diagnosis of mood or psychotic disorder. Using a zero-inflated negative binomial regression model, we determined the relationship between travel-time and incidence, stratified by disease severity. We employed spatial scan statistics to look for patient clusters. RESULTS: We show that travel-times (for driving) to the CSJDM are less than 1 h for ~50% of the population and more than 4 h for ~10%. We find a distance-decay relationship for outpatients, but not for inpatients: for every hour increase in travel-time, the number of expected outpatient cases decreases by 20% (RR = 0.80, 95% confidence interval [0.71, 0.89], p = 5.67E-05). We find nine clusters/hotspots of inpatients. CONCLUSIONS: Our results reveal inequities in access to healthcare: many individuals requiring only outpatient treatment may live too far from the CSJDM to access healthcare. Targeting of resources to comprehensively identify severely ill individuals living in the observed hotspots could further address treatment inequities and enable investigations to determine factors generating these hotspots.

The frequencies of mental disorders vary by geographic region. Investigating such variations may lead to more equitable access to mental healthcare and to scientific discoveries that reveal specific localized factors that contribute to the causes of mental illness. This study examined the frequency of three disorders with a major impact on public health ­ schizophrenia, bipolar disorder, and major depressive disorder ­ by analyzing electronic health records from a hospital providing comprehensive mental health care for a large region in Colombia. We show that individuals receiving outpatient care mainly live relatively near the facility. Those receiving inpatient care live throughout the region, but cluster in a few scattered locations. Future research could lead to strategies for more equitable provision of mental healthcare in Colombia and identify environmental or genetic factors that affect the likelihood that someone will develop one of these disorders.

Divide et Vinces, Therapeutic Apheresis in Nephrological Clinical Practice.

Therapeutic plasma exchange (TPE) or plasmapheresis has been used in various life-threatening diseases as a primary treatment or in combination with other therapies. It was first successfully employed in the 1960s for diseases like Waldenström's disease and myeloma. Since then, TPE techniques using apheresis membranes have been introduced. Apheresis therapies separate plasma components from blood using membrane screening or centrifugation methods. TPE aims to remove substances involved in the pathophysiology of diseases. It selectively removes high-molecular-weight molecules, substances with prolonged half-life, and those associated with disease pathogenesis. TPE can be performed using membranes or centrifugation, with replacement of extracted plasma volume using albumin or fresh frozen plasma. TPE requires specific competencies in nephrology and can be prescribed and monitored by nephrologists and performed by dialysis nursing staff. TPE can be combined with adsorption-based therapies to enhance its effect, and this approach is called plasma filtration adsorption. Another variation is double plasma filtration, which selectively removes substances based on molecular size. TPE can also be combined with lipoprotein removal strategies for managing familial hypercholesterolemia. TPE is an affordable extracorporeal therapy that benefits patients with life-threatening diseases. It requires collaboration between nephrologists and other specialists, and our results demonstrate successful TPE without anticoagulation in general hospitalization or outpatient settings.

Predicting diagnostic conversion from major depressive disorder to bipolar disorder: an EHR based study from Colombia.

Bipolar Disorder (BD) is a severe and chronic disorder characterized by recurrent episodes of depression, mania, and/or hypomania. Most BD patients initially present with depressive symptoms, resulting in a delayed diagnosis of BD and poor clinical outcomes. This study leverages electronic health record (EHR) data from the Clínica San Juan de Dios Manizales in Colombia to identify features predictive of the transition from Major Depressive Disorder (MDD) to BD. Analyzing EHR data from 13,607 patients diagnosed with MDD over 15 years, we identified 1,610 cases of conversion to BD. Using a multivariate Cox regression model, we identified severity of the initial MDD episode, the presence of psychosis and hospitalization at first episode, family history of mood or psychotic disorders, female gender to be predictive of the conversion to BD. Additionally, we observed associations with medication classes (prescriptions of mood stabilizers, antipsychotics, and antidepressants) and clinical features (delusions, suicide attempt, suicidal ideation, use of marijuana and alcohol use/abuse) derived from natural language processing (NLP) of clinical notes. Together, these risk factors predicted BD conversion within five years of the initial MDD diagnosis, with a recall of 72% and a precision of 38%. Our study confirms many previously identified risk factors identified through registry-based studies (such as female gender and psychotic depression at the index MDD episode), and identifies novel ones (specifically, suicidal ideation and suicide attempt extracted from clinical notes). These results simultaneously demonstrate the validity of using EHR data for predicting BD conversion as well as underscore its potential for the identification of novel risk factors and improving early diagnosis.

Leucodistrofia metacromática del adulto: reporte de caso / Adult-onset metachromatic leukodystrophy

RESUMEN INTRODUCCIÓN: La leucodistrofia metacromática (LDM) es una enfermedad poco frecuente que se caracteriza por desmielinización progresiva a nivel del sistema nervioso central y periférico. En la mayoría de los casos, es causada por una actividad deficiente de la enzima arilsulfatasa-A. Pertenece al grupo de las leucodistrofias, que son trastornos hereditarios de la sustancia blanca asociados con una variabilidad fenotípica y una heterogeneidad genética importante. El fenotipo de la LDM suele relacionarse con la edad de presentación, que puede variar desde la infancia hasta la adultez. Cuando se presenta en la edad adulta, puede debutar con manifestaciones neuropsiquiátricas, lo que lleva con frecuencia a diagnósticos erróneos. REPORTE DE CASO: Se presenta el caso de una paciente adulta que debutó con un cuadro clínico caracterizado por cambios comportamentales progresivos, con posterior inicio de manifestaciones clínicas motoras. El diagnóstico de LDM se sospechó a partir de la clínica y los hallazgos típicos en la resonancia magnética (RM) cerebral, y se confirmó con la detección de actividad deficiente de la arilsulfatasa-A (ARSA) y la secuenciación del gen ARSA que confirmó la mutación en estado homocigoto, compatible con este diagnóstico. DISCUSIÓN: Destacamos en este caso la importancia de la sospecha clínica, el reconocimiento temprano y el manejo multidisciplinario como factores pronósticos del curso de la enfermedad, ya que en la actualidad no hay tratamiento definitivo para la enfermedad.

ABSTRACT INTRODUCTION: Metachromatic leukodystrophy (MLD) is an infrequent disease characterized by progressive demyelination of the central and peripheral nervous system. In most cases, it is caused by deficient activity of arylsulfatase-A. It belongs to the group of leukodystrophies, which are inherited white matter disorders that can be associated with significant phenotypic variability and genetic heterogeneity. The phenotype in MLD is usually related to the age of onset, which can vary from childhood to adulthood. Adult-onset MLD can debut with neuropsychiatry symptoms, which can often lead to misdiagnosis. CASE REPORT: We report the case of an adult female patient who presented with progressive behavioral changes, followed by motor manifestations. MLD was initially suspected based on the clinical presentation and the characteristic findings on brain magnetic resonance imaging (MRI), with subsequent confirmation by detection of deficient arylsulfatase-A (ARSA) activity and ARSA gene sequencing, which demonstrated homozygosity, compatible with this diagnosis. DISCUSSION: We highlight the importance of clinical suspicion, early recognition and multidisciplinary management as a prognostic factor for the course of the disease, since there is currently no definitive treatment for the disease.

Genetic mapping for agronomic traits in a MAGIC population of common bean (Phaseolus vulgaris L.) under drought conditions.

BACKGROUND: Common bean is an important staple crop in the tropics of Africa, Asia and the Americas. Particularly smallholder farmers rely on bean as a source for calories, protein and micronutrients. Drought is a major production constraint for common bean, a situation that will be aggravated with current climate change scenarios. In this context, new tools designed to understand the genetic basis governing the phenotypic responses to abiotic stress are required to improve transfer of desirable traits into cultivated beans. RESULTS: A multiparent advanced generation intercross (MAGIC) population of common bean was generated from eight Mesoamerican breeding lines representing the phenotypic and genotypic diversity of the CIAT Mesoamerican breeding program. This population was assessed under drought conditions in two field trials for yield, 100 seed weight, iron and zinc accumulation, phenology and pod harvest index. Transgressive segregation was observed for most of these traits. Yield was positively correlated with yield components and pod harvest index (PHI), and negative correlations were found with phenology traits and micromineral contents. Founder haplotypes in the population were identified using Genotyping by Sequencing (GBS). No major population structure was observed in the population. Whole Genome Sequencing (WGS) data from the founder lines was used to impute genotyping data for GWAS. Genetic mapping was carried out with two methods, using association mapping with GWAS, and linkage mapping with haplotype-based interval screening. Thirteen high confidence QTL were identified using both methods and several QTL hotspots were found controlling multiple traits. A major QTL hotspot located on chromosome Pv01 for phenology traits and yield was identified. Further hotspots affecting several traits were observed on chromosomes Pv03 and Pv08. A major QTL for seed Fe content was contributed by MIB778, the founder line with highest micromineral accumulation. Based on imputed WGS data, candidate genes are reported for the identified major QTL, and sequence changes were identified that could cause the phenotypic variation. CONCLUSIONS: This work demonstrates the importance of this common bean MAGIC population for genetic mapping of agronomic traits, to identify trait associations for molecular breeding tool design and as a new genetic resource for the bean research community.

Genomic Prediction of Agronomic Traits in Common Bean (Phaseolus vulgaris L.) Under Environmental Stress.

In plant and animal breeding, genomic prediction models are established to select new lines based on genomic data, without the need for laborious phenotyping. Prediction models can be trained on recent or historic phenotypic data and increasingly available genotypic data. This enables the adoption of genomic selection also in under-used legume crops such as common bean. Beans are an important staple food in the tropics and mainly grown by smallholders under limiting environmental conditions such as drought or low soil fertility. Therefore, genotype-by-environment interactions (G × E) are an important consideration when developing new bean varieties. However, G × E are often not considered in genomic prediction models nor are these models implemented in current bean breeding programs. Here we show the prediction abilities of four agronomic traits in common bean under various environmental stresses based on twelve field trials. The dataset includes 481 elite breeding lines characterized by 5,820 SNP markers. Prediction abilities over all twelve trials ranged between 0.6 and 0.8 for yield and days to maturity, respectively, predicting new lines into new seasons. In all four evaluated traits, the prediction abilities reached about 50-80% of the maximum accuracies given by phenotypic correlations and heritability. Predictions under drought and low phosphorus stress were up to 10 and 20% improved when G × E were included in the model, respectively. Our results demonstrate the potential of genomic selection to increase the genetic gain in common bean breeding. Prediction abilities improved when more phenotypic data was available and G × E could be accounted for. Furthermore, the developed models allowed us to predict genotypic performance under different environmental stresses. This will be a key factor in the development of common bean varieties adapted to future challenging conditions.

Utilidad de las tiras reactivas para el diagnóstico temprano de peritonitis bacteriana espontánea en pacientes cirróticos con ascitis / Usefulness of test strips for early diagnosis of spontaneous bacterial peritonitis in cirrhotic patients with ascites

Introducción: La peritonitis bacteriana espontánea requiere un diagnóstico temprano para el inicio de antibioticoterapia. El estudio diagnóstico ideal es el citoquímico del líquido ascítico, el cual puede ser costoso, demorado y de disponibilidad limitada en centros primarios de atención en salud. Objetivo: Evaluar la utilidad y precisión diagnóstica de las tiras reactivas Multistix 10SG para el diagnóstico de peritonitis bacteriana espontánea en pacientes cirróticos con ascitis. Materiales y métodos: Estudio observacional descriptivo de prueba diagnóstica en pacientes cirróticos con ascitis. Se determinó el conteo de leucocitos del líquido ascítico por la escala colorimétrica de la tira reactiva Multistix 10SG y se comparó con el gold standard para el diagnóstico (polimorfonucleares ≥ 250 células/mm³). Resultados: De 174 pacientes con ascitis (51,7% mujeres, promedio de edad 59 años) 30 fueron diagnosticados con peritonitis bacteriana espontánea. Con un punto de corte grado ++, la tira reactiva tuvo sensibilidad 73,3%, especificidad 96,5%, valor predictivo positivo 81,4%, valor predictivo negativo 94,5%, razón de probabilidad positiva 21,2 y razón de probabilidad negativa 0,27. Conclusiones: Las tiras reactivas tienen adecuada especificidad y valor predictivo negativo, siendo una herramienta de bajo costo, uso sencillo, rápida interpretación y fácil acceso, para apoyar la decisión de no iniciar antibiótico en pacientes con ascitis y sospecha de peritonitis bacteriana espontánea. Por su baja sensibilidad no reemplazan al estudio citoquímico como prueba de elección para el diagnóstico definitivo, pero si es útil para optimizar el abordaje inicial de estos pacientes.

Introduction: Spontaneous bacterial peritonitis requires an early diagnosis to start antibiotic therapy. The ideal diagnostic study is the cytochemical of ascites fluid, which can be expensive, delayed and of limited availability in primary health care centers. Objective: Evaluate the usefulness and diagnostic accuracy of Multistix 10SG test strips for the diagnosis of spontaneous bacterial peritonitis in cirrhotic patients with ascites. Materials and methods: Observational descriptive study of diagnostic test in cirrhotic patients with ascites. The leukocyte count of ascites fluid was determined by the colorimetric scale of the Multistix 10SG test strip and compared with the gold standard for diagnosis (polymorphonuclear ≥ 250 cells / mm³). Results: Of 174 patients with ascites (51.7% women, average age 59 years) 30 were diagnosed with spontaneous bacterial peritonitis. With a grade ++ cut-off point, the test strip had sensitivity 73.3%, specificity 96.5%, positive predictive value 81.4%, negative predictive value 94.5%, positive likelihood ratio 21.2 and negative likelihood ratio of 0.27. Conclusions: The test strips have adequate specificity and negative predictive value, being a low cost tool, simple use, quick interpretation and easy access, to support the decision not to start an antibiotic in patients with ascites and suspected spontaneous bacterial peritonitis. Due to their low sensitivity they do not replace the cytochemical study as the test of choice for the definitive diagnosis, but it is useful for optimizing the initial approach of these patients.

Structural variants in 3000 rice genomes.

Investigation of large structural variants (SVs) is a challenging yet important task in understanding trait differences in highly repetitive genomes. Combining different bioinformatic approaches for SV detection, we analyzed whole-genome sequencing data from 3000 rice genomes and identified 63 million individual SV calls that grouped into 1.5 million allelic variants. We found enrichment of long SVs in promoters and an excess of shorter variants in 5' UTRs. Across the rice genomes, we identified regions of high SV frequency enriched in stress response genes. We demonstrated how SVs may help in finding causative variants in genome-wide association analysis. These new insights into rice genome biology are valuable for understanding the effects SVs have on gene function, with the prospect of identifying novel agronomically important alleles that can be utilized to improve cultivated rice.

Translocation of a parthenogenesis gene candidate to an alternate carrier chromosome in apomictic Brachiaria humidicola.

BACKGROUND: The apomictic reproductive mode of Brachiaria (syn. Urochloa) forage species allows breeders to faithfully propagate heterozygous genotypes through seed over multiple generations. In Brachiaria, reproductive mode segregates as single dominant locus, the apospory-specific genomic region (ASGR). The AGSR has been mapped to an area of reduced recombination on Brachiaria decumbens chromosome 5. A primer pair designed within ASGR-BABY BOOM-like (BBML), the candidate gene for the parthenogenesis component of apomixis in Pennisetum squamulatum, was diagnostic for reproductive mode in the closely related species B. ruziziensis, B. brizantha, and B. decumbens. In this study, we used a mapping population of the distantly related commercial species B. humidicola to map the ASGR and test for conservation of ASGR-BBML sequences across Brachiaria species. RESULTS: Dense genetic maps were constructed for the maternal and paternal genomes of a hexaploid (2n = 6x = 36) B. humidicola F1 mapping population (n = 102) using genotyping-by-sequencing, simple sequence repeat, amplified fragment length polymorphism, and transcriptome derived single nucleotide polymorphism markers. Comparative genomics with Setaria italica provided confirmation for x = 6 as the base chromosome number of B. humidicola. High resolution molecular karyotyping indicated that the six homologous chromosomes of the sexual female parent paired at random, whereas preferential pairing of subgenomes was observed in the apomictic male parent. Furthermore, evidence for compensated aneuploidy was found in the apomictic parent, with only five homologous linkage groups identified for chromosome 5 and seven homologous linkage groups of chromosome 6. The ASGR mapped to B. humidicola chromosome 1, a region syntenic with chromosomes 1 and 7 of S. italica. The ASGR-BBML specific PCR product cosegregated with the ASGR in the F1 mapping population, despite its location on a different carrier chromosome than B. decumbens. CONCLUSIONS: The first dense molecular maps of B. humidicola provide strong support for cytogenetic evidence indicating a base chromosome number of six in this species. Furthermore, these results show conservation of the ASGR across the Paniceae in different chromosomal backgrounds and support postulation of the ASGR-BBML as candidate genes for the parthenogenesis component of apomixis.

[Usefulness of test strips for early diagnosis of spontaneous bacterial peritonitis in cirrhotic patients with ascites]. / Utilidad de las tiras reactivas para el diagnóstico temprano de peritonitis bacteriana espontánea en pacientes cirróticos con ascitis.

INTRODUCTION: Spontaneous bacterial peritonitis requires an early diagnosis to start antibiotic therapy. The ideal diagnostic study is the cytochemical of ascites fluid, which can be expensive, delayed and of limited availability in primary health care centers. OBJECTIVE: Evaluate the usefulness and diagnostic accuracy of Multistix 10SG test strips for the diagnosis of spontaneous bacterial peritonitis in cirrhotic patients with ascites. MATERIALS AND METHODS: Observational descriptive study of diagnostic test in cirrhotic patients with ascites. The leukocyte count of ascites fluid was determined by the colorimetric scale of the Multistix 10SG test strip and compared with the gold standard for diagnosis (polymorphonuclear ≥ 250 cells / mm³). RESULTS: Of 174 patients with ascites (51.7% women, average age 59 years) 30 were diagnosed with spontaneous bacterial peritonitis. With a grade ++ cut-off point, the test strip had sensitivity 73.3%, specificity 96.5%, positive predictive value 81.4%, negative predictive value 94.5%, positive likelihood ratio 21.2 and negative likelihood ratio of 0.27. CONCLUSIONS: The test strips have adequate specificity and negative predictive value, being a low cost tool, simple use, quick interpretation and easy access, to support the decision not to start an antibiotic in patients with ascites and suspected spontaneous bacterial peritonitis. Due to their low sensitivity they do not replace the cytochemical study as the test of choice for the definitive diagnosis, but it is useful for optimizing the initial approach of these patients.

Resequencing of Common Bean Identifies Regions of Inter-Gene Pool Introgression and Provides Comprehensive Resources for Molecular Breeding.

Common bean ( L.) is the most important grain legume for human consumption and is a major nutrition source in the tropics. Because bean production is reduced by both abiotic and biotic constraints, current breeding efforts are focused on the development of improved varieties with tolerance to these stresses. We characterized materials from different breeding programs spanning three continents to understand their sequence diversity and advance the development of molecular breeding tools. For this, 37 varieties belonging to , (A. Gray), and L. were sequenced by whole-genome sequencing, identifying more than 40 million genomic variants. Evaluation of nuclear DNA content and analysis of copy number variation revealed important differences in genomic content not only between and the two other domesticated species, but also within , affecting hundreds of protein-coding genomic regions. A large number of inter-gene pool introgressions were identified. Furthermore, interspecific introgressions for disease resistance in breeding lines were mapped. Evaluation of newly developed single nucleotide polymorphism markers within previously discovered quantitative trait loci for common bacterial blight and angular leaf spot provides improved specificity to tag sources of resistance to these diseases. We expect that this dataset will provide a deeper molecular understanding of breeding germplasm and deliver molecular tools for germplasm development, aiming to increase the efficiency of bean breeding programs.

Antibiotic stewardship in community-acquired pneumonia.

INTRODUCTION: Community-acquired pneumonia (CAP) continues to be associated with significant mortality and morbidity. As with other infectious diseases, in recent years there has been a marked increase in resistance to the antibiotics commonly used against the pathogens that cause CAP. Antimicrobial stewardship denotes coordinated interventions to improve and measure the appropriate use of antibiotics by encouraging the selection of optimal drug regimens. Areas covered: Several elements can be applied to antibiotic stewardship strategies for CAP in order to maintain or improve patient outcomes. In this regard, antibiotic de-escalation, duration of antibiotic treatment, adherence to CAP guidelines recommendations about empirical treatment, and switching from intravenous to oral antibiotic therapy may each be relevant in this context. Antimicrobial stewardship strategies, such as prospective audit with intervention and feedback, clinical pathways, and dedicated multidisciplinary teams, that have included some of these elements have demonstrated improvements in antimicrobial use for CAP without negatively affecting clinical outcomes. Expert commentary: Although there are a limited number of randomized clinical studies addressing antimicrobial stewardship strategies in CAP, there is evidence that antibiotic stewardship initiatives can be securely applied, providing benefits to both healthcare systems and patients.

Bioinformatic analysis of genotype by sequencing (GBS) data with NGSEP.

BACKGROUND: Therecent development and availability of different genotype by sequencing (GBS) protocols provided a cost-effective approach to perform high-resolution genomic analysis of entire populations in different species. The central component of all these protocols is the digestion of the initial DNA with known restriction enzymes, to generate sequencing fragments at predictable and reproducible sites. This allows to genotype thousands of genetic markers on populations with hundreds of individuals. Because GBS protocols achieve parallel genotyping through high throughput sequencing (HTS), every GBS protocol must include a bioinformatics pipeline for analysis of HTS data. Our bioinformatics group recently developed the Next Generation Sequencing Eclipse Plugin (NGSEP) for accurate, efficient, and user-friendly analysis of HTS data. RESULTS: Here we present the latest functionalities implemented in NGSEP in the context of the analysis of GBS data. We implemented a one step wizard to perform parallel read alignment, variants identification and genotyping from HTS reads sequenced from entire populations. We added different filters for variants, samples and genotype calls as well as calculation of summary statistics overall and per sample, and diversity statistics per site. NGSEP includes a module to translate genotype calls to some of the most widely used input formats for integration with several tools to perform downstream analyses such as population structure analysis, construction of genetic maps, genetic mapping of complex traits and phenotype prediction for genomic selection. We assessed the accuracy of NGSEP on two highly heterozygous F1 cassava populations and on an inbred common bean population, and we showed that NGSEP provides similar or better accuracy compared to other widely used software packages for variants detection such as GATK, Samtools and Tassel. CONCLUSIONS: NGSEP is a powerful, accurate and efficient bioinformatics software tool for analysis of HTS data, and also one of the best bioinformatic packages to facilitate the analysis and to maximize the genomic variability information that can be obtained from GBS experiments for population genomics.

Characterization of treatment failure in HIV positive patients in the Colombian Caribbean region / Caracterización del fracaso terapéutico en pacientes VIH positivos en la región del Caribe Colombiano

Background: Treatment failure in patients receiving antiretroviral therapy against human immunodeficiency virus (HIV) is always a concern. Objective: To examine the correlates associated with treatment failure in patients living in the Colombian Caribbean city of Barranquilla, an aspect that was poorly studied in this region. Methods: Treatment failure (TF) was evaluated in a cross-sectional study from virological, immunological and clinical standpoints. Results: It was established that 29.5% of patients under highly active antiretroviral therapy (ART) could be considered in TF. Among those, virological failure was most frequent (20.9%), followed by immunological- (14.0%) and clinical failure (4.7%). In patients showing lack of adherence to the treatment, the likelihood of suffering from treatment- and virogical-failure were respectively increased by 6.67-fold and 12.19-fold, compared with patients showing good adherence. Although there was no statistically significant association, TF tended to be more frequent in young adults, in patients with low income and, low level of education. When ART regimens were compared, there was no apparent difference in TF between regimens based on non-nucleoside reverse transcriptase inhibitors and those based on protease inhibitors. This is very important in the context of recent ART strategies, such as early-initiated ART, aimed at achieving long-term infection control. Conclusions: Is confirmed the importance of treatment adherence to avoid TF and further highlights the importance of educating HIV-infected patients in all parts of the world, especially those individuals with a lower socio-economic status.

Antecedentes: El fracaso terapéutico (FT) en pacientes que están recibiendo terapia antirretroviral contra el Virus de la Inmunodeficiencia Humana (VIH) ha sido siempre preocupante. Objetivo: Examinar las variables asociadas con el FT, un problema que ha sido pobremente estudiado en la región, en pacientes que habitan en Barranquilla, ciudad del Caribe colombiano. Métodos: El FT fue evaluado en un estudio transversal desde los puntos de vista virológico, inmunológico y clínico. Resultados: Se determinó que el 29.5% de los pacientes bajo terapia antirretroviral (TAR) de gran actividad podría considerase en FT. El fracaso virológico fue el más frecuente (20.9%), seguido por el inmunológico (14.0%) y el clínico (4.7%). En pacientes que mostraron falta de adherencia al tratamiento, las posibilidades de presentar un FT y virológico fue mayor, 6.67 y 12.19 veces, respectivamente, comparados con pacientes que mostraron buena adherencia. Aun cuando no hubo una asociación estadística significativa, el FT tendió a ser más frecuente en adultos jóvenes, en pacientes con bajos ingresos y bajo nivel de educación. Cuando se compararon diferentes regímenes de TAR no hubo una diferencia aparente entre el FT en los regímenes basados en inhibidores no nucleósidos de la transcriptasa inversa y en aquellos basados en inhibidores de la proteasa. Esto es muy importante en el contexto de recientes estrategias de TAR, como es el caso de las iniciadas en forma temprana con el fin de lograr el control de la infección a largo plazo. Conclusiones: Se confirma la importancia de la adherencia al tratamiento para evitar el FT y la importancia de educar a los pacientes infectados con el VIH, especialmente aquellos individuos con un nivel socioeconómico bajo.

Characterization of treatment failure in HIV positive patients in the Colombian Caribbean region.

BACKGROUND: Treatment failure (TF) in patients receiving antiretroviral therapy against human immunodeficiency virus (HIV) is always a concern. OBJECTIVE: To examine the correlates associated with TF in patients living in the Colombian Caribbean city of Barranquilla, an aspect that was poorly studied in this region. METHODS: Treatment failure was evaluated in a cross-sectional study from virological, immunological and clinical standpoints. RESULTS: It was established that 29.5% of patients under highly active antiretroviral therapy (ART) could be considered in TF. Among those, virological failure was most frequent (20.9%), followed by immunological- (14.0%) and clinical failure (4.7%). In patients showing lack of adherence to the treatment, the likelihood of suffering from TF and virogical failure were respectively increased by 6.67-fold and 12.19-fold, compared with patients showing good adherence. Although there was no statistically significant association, TF tended to be more frequent in young adults, in patients with low income and, low level of education. When ART regimens were compared, there was no apparent difference in TF between regimens based on non-nucleoside reverse transcriptase inhibitors and those based on protease inhibitors. This is very important in the context of recent ART strategies, such as early-initiated ART, aimed at achieving long-term infection control. CONCLUSIONS: Is confirmed the importance of treatment adherence to avoid TF and further highlights the importance of educating HIV-infected patients in all parts of the world, especially those individuals with a lower socio-economic status.

OBJETIVOS: El fracaso terapéutico (FT) en pacientes que están recibiendo terapia antirretroviral contra el Virus de la Inmunodeficiencia Humana (VIH) ha sido siempre preocupante. OBJETIVO: Examinar las variables asociadas con el fracaso terapéutico, un problema que ha sido pobremente estudiado en la región, en pacientes que habitan en Barranquilla, ciudad del Caribe colombiano. MÉTODOS: El fracaso terapéutico fue evaluado en un estudio transversal desde los puntos de vista virológico, inmunológico y clínico. RESULTADOS: Se determinó que el 29.5% de los pacientes bajo terapia antirretroviral (TAR) de gran actividad podría considerase en fracaso terapéutico. El fracaso virológico fue el más frecuente (20.9%), seguido por el inmunológico (14.0%) y el clínico (4.7%). En pacientes que mostraron falta de adherencia al tratamiento, las posibilidades de presentar un fracaso terapéutico y virológico fue mayor, 6.67 y 12.19 veces, respectivamente, comparados con pacientes que mostraron buena adherencia. Aun cuando no hubo una asociación estadística significativa, el fracaso terapéutico tendió a ser más frecuente en adultos jóvenes, en pacientes con bajos ingresos y bajo nivel de educación. Cuando se compararon diferentes regímenes de TAR no hubo una diferencia aparente entre el fracaso terapéutico en los regímenes basados en inhibidores no nucleósidos de la transcriptasa inversa y en aquellos basados en inhibidores de la proteasa. Esto es muy importante en el contexto de recientes estrategias de TAR, como es el caso de las iniciadas en forma temprana con el fin de lograr el control de la infección a largo plazo. CONCLUSIONES: Se confirma la importancia de la adherencia al tratamiento para evitar el fracaso terapéutico y la importancia de educar a los pacientes infectados con el VIH, especialmente aquellos individuos con un nivel socioeconómico bajo.

Autoimmune thyroid disease in rheumatoid arthritis: a global perspective.

Objective. To determine the prevalence and impact of autoimmune thyroid disease (AITD) in patients with rheumatoid arthritis (RA). Methods. Eight-hundred patients were included. The association between AITD and RA was analyzed was analyzed by bivariate and multivariate analysis. In addition, a literature review was done focusing on geographical variations. Results. In our cohort the prevalence of AITD was 9.8% while the presence of antibodies was 37.8% for antithyroperoxidase enzyme (TPOAb) and 20.8% for antithyroglobulin protein (TgAb). The presence of type 2 diabetes, thrombosis, abnormal body mass index, and a high educational level was positively associated with AITD. The literature review disclosed a geographical variation of AITD in RA ranging from 0.5% to 27%. Autoantibody prevalence ranges from 6% to 31% for TgAb, 5% to 37% for TPOAb, and from 11.4% to 32% for the presence of either of the two. Conclusion. AITD is not uncommon in RA and should be systematically assessed since it is a risk factor for developing diabetes and cardiovascular disease. These results may help to further study the common mechanisms of autoimmune diseases, to improve patients' outcome, and to define public health policies. An international consensus to accurately diagnose AITD is warranted.

Gender differences in Latin-American patients with rheumatoid arthritis.

BACKGROUND: Data on the effect of gender in rheumatoid arthritis (RA) in non-Caucasian populations is scarce. Latin America and the Caribbean (LAC) is a large population with unique characteristics, including high admixture. OBJECTIVE: Our aim was to examine the effect of gender in patients with RA in LAC. METHODS: This was a 2-phase study. First we conducted a cross-sectional and analytical study in which 1128 consecutive Colombian patients with RA were assessed. Second, a systematic review of the literature was done to evaluate the effect of gender in LAC patients with RA. RESULTS: Our results show a high prevalence of RA in LAC women with a ratio of 5.2 women per man. Colombian women with RA are more at risk of having an early age at onset and developing polyautoimmunity and abdominal obesity, and they perform more household duties than their male counterparts. However, male gender was associated with the presence of extra-articular manifestations. Of a total of 641 potentially relevant articles, 38 were considered for final analysis, in which several factors and outcomes related to gender were identified. CONCLUSIONS: RA in LAC women is not only more common but presents with some clinical characteristics that differ from RA presentation in men. Some of those characteristics could explain the high rates of disability and worse prognosis observed in women with RA in LAC.

Visita de abejas (Apis mellifera, Hymenoptera: Apoidea) a flores de melón Cucumis melo (Cucurvitaceae) en Panamá

Bee (Apis mellifera, Hymenoptera: Apoidea) visitation to cantaloupe Cucumis melo (Cucurvitaceae) flowers in Panama. Flower visits by bees were observed in a melon cultivated field of San Lorenzo district, in Chiriquí, Panama, from January 6 to February 19, 2002, from 6:30 am to 4:30 pm We recorded the duration of each foraging event and the type of resource collected. Flower visits were mostly for nectar collection (∼75 %). Pollen foraging was concentrated in the first hours of the morning and ended by 11:00 am The mean collection time was similar for both food resources, but was different between flower sexes. Flower visits to female flowers took longer (Student's t test, p<0.0001), with a mean time duration of 8.4±4.4 s, whereas in male flowers mean visitation time was of 4.0±1.5 s. Finally, the mean time for each floral sex remained practically constant through the evolution of the crop. Our results were similar to the found ones in temperate zone crops, so apparently tropical conditions of Panama do not change the bee visit patterns on melon flowers. Rev. Biol. Trop. 55 (2): 677-680. Epub 2007 June, 29.

Se observaron las visitas observadas a flores seleccionadas en un cultivo del Distrito de San Lorenzo, Chiriquí, del 6 de Enero y el 19 de Febrero del 2002, desde las 6:30 am hasta las 4:30 pm, y se anotaron características de las visita, como el tiempo de visita y el tipo de recurso colectado. Las visitas fueron mayormente para la recolección de néctar (casi 3/4). La recolección de polen se concentró hacia las primeras horas de la mañana, cesando definitivamente a las 11:00 am. El tiempo medio de recolección fue similar para ambos recursos, pero fue marcadamente distinto para cada sexo floral. Las visitas a flores femeninas fueron significativamente (Prueba t Student, p<0.0001) más largas, con un tiempo medio de duración de 8.4±4.4 s, mientras que en las flores masculinas, el tiempo medio de visita fue 4.0±1.5 s. Por último, el tiempo medio de recolección por sexo floral permaneció prácticamente constante conforme evolucionó el cultivo. Nuestros resultados fueron similares a los encontrados en cultivos de zonas templadas, por lo que aparentemente las condiciones tropicales de Panamá no cambian los patrones de visita que presentan las abejas en las flores de melón.