Hemocromatosis: actualización clínica y diagnóstica / Hemochromatosis: clinical and diagnostic update

La hemocromatosis es un desorden en el cual la sobrecarga progresiva de hierro puede llevar a complicaciones sistémicas con gran morbimortalidad. Es una entidad clinicopatológica, con múltiples genes comprometidos y una fisiopatología común, con una expresión clínica y fenotípica variable, que depende de múltiples factores, tanto individuales como ambientales. Para su diagnóstico y seguimiento adecuado es necesario tener en cuenta elementos clínicos, bioquímicos y moleculares. En esta revisión, se presentan las generalidades de la hemocromatosis, además de sus mecanismos fisiopatológicos y moleculares, teniendo en cuenta su valor para el diagnóstico de la enfermedad. Adicionalmente, se describe la clasificación y un algoritmo diagnóstico propuestos recientemente por grupos de trabajo de expertos, así como las opciones de manejo y seguimiento de los pacientes con hemocromatosis

Hemochromatosis is a disorder in which progressive iron overload may lead to systemic complications with potential morbidity and mortality. It is a clinicopathologic entity that involves multiple genes and common pathophysiology, and has a variable clinical and phenotypic expression that depends on several individual and environmental factors. To make the diagnosis and perform a proper follow-up, clinical, biochemical, and molecular elements must be considered. This review aims to present the general characteristics of hemochromatosis, its molecular and pathophysiologic mechanisms, and their significance in the diagnosis of this disorder. In addition, a new classification and a proposed diagnostic algorithm by an expert working group are described, as well as management and follow-up options for patients with hemochromatosis

Cryptosporidium hominis Phylogenomic Analysis Reveals Separate Lineages With Continental Segregation.

Cryptosporidium is a leading cause of waterborne outbreaks globally, and Cryptosporidium hominis and C. parvum are the principal cause of human cryptosporidiosis on the planet. Thanks to the advances in Next-Generation Sequencing (NGS) sequencing and bioinformatic software development, more than 100 genomes have been generated in the last decade using a metagenomic-like strategy. This procedure involves the parasite oocyst enrichment from stool samples of infected individuals, NGS sequencing, metagenomic assembly, parasite genome computational filtering, and comparative genomic analysis. Following this approach, genomes of infected individuals of all continents have been generated, although with striking different quality results. In this study, we performed a thorough comparison, in terms of assembly quality and purity, of 100+ de novo assembled genomes of C. hominis. Remarkably, after quality genome filtering, a comprehensive phylogenomic analysis allowed us to discover that C. hominis encompasses two lineages with continental segregation. These lineages were named based on the observed continental distribution bias as C. hominis Euro-American (EA) and the C. hominis Afro-Asian (AA) lineages.

Prevalence of intestinal parasites in a cohort of HIVinfected patients from Antioquia, Colombia. / Prevalencia de parásitos intestinales en una cohorte de pacientes positivos para HIV en Antioquia, Colombia

INTRODUCTION: HIV infection is still a public health problem worldwide and co-infections with other infectious agents including intestinal parasites are of particular concern, mainly in developing countries like Colombia. OBJECTIVE: To conduct a cross-sectional study in patients attending an HIV care program in Antioquia given that there have been few intestinal parasites prevalence studies among the HIV population in the country. MATERIAL AND METHODS: We evaluated stool samples from 192 patients by direct wet mount and concentration, modified Ziehl Neelsen staining, and agar plate culture. Univariate and correlation analyses were done to explore the association between socio-demographic and clinical characteristics and parasitological data. RESULTS: The overall prevalence of intestinal parasites in HIV-positive subjects was 29.2% (56/192; 95% CI: 22.8% - 35.6%). Entamoeba histolytica/dispar/moshkosvkii with 13.0% (25/192; 95% CI: 8.2% - 17.8%) and Blastocystis with 12.0% (23/192; 95% CI: 7.4% - 16.6%) were the most frequent. Opportunistic parasites like Cryptosporidium spp. and Cystoisospora belli were less prevalent, each one with 0.5% of positive samples (1/192; 95% CI: 0.1% - 1.5%). Commensal protozoa were also detected with a prevalence of 18.8% (36/192; 95% CI: 13.3% - 24.3%). Most of the individuals in the study had a controlled viral load and an LTCD4 count greater than 200 cel/µL. A small percentage (9.3%) had diarrhea. Bivariate analysis and multivariate logistic regression showed that only age and having pets had a significant association with intestinal parasites in this cohort. CONCLUSIONS: Our results confirmed that the evaluated population is at high risk of intestinal parasite infection, which highlights the need for routine screening of gastrointestinal parasites to provide prompt treatment and reduce possible complications.

Introducción. La infección por HIV y las coinfecciones con otros agentes infecciosos, incluidos los parásitos intestinales, son motivo de especial preocupación en países en desarrollo como Colombia. Objetivo. Hacer un estudio transversal en pacientes que asisten a un programa de atención de HIV en el departamento de Antioquia, dado que los estudios de prevalencia de parásitos intestinales en la población con HIV son escasos en el país. Materiales y métodos. Se evaluaron 192 muestras de materia fecal mediante examen coprológico directo y por concentración, tinción de Ziehl-Neelsen modificada, y aislamiento en agar. Se hicieron análisis univariados y de correlación, para explorar la asociación entre las características sociodemográficas y clínicas, y los datos parasitológicos. Resultados. La prevalencia global de parásitos intestinales en pacientes positivos para VIH fue del 29.2 % (56/192; IC95% 22.8-35.6 %), siendo Entamoeba histolytica/dispar/moshkosvkii, con 13.0 % (25/192; IC95% 8.2-17.8 %), y Blastocystis, con 12.0 % (23/192; IC95% 7.4-16.6 %), los mas frecuentes. Los parásitos oportunistas Cryptosporidium spp. y Cystoisospora belli fueron menos prevalentes, cada uno con 0.5 % (1/192; IC95% 0.1-1.5 %) de muestras positivas. También, se detectaron protozoos comensales, con una prevalencia del 18,8 % (36/192; IC95% 13,3-24,3 %). La mayoría de los individuos tenía una carga viral controlada y un recuento de linfocitos T CD4 superior a 200 células/µl. Un pequeño porcentaje (9,3 %) presentó diarrea. La edad y el tener mascotas mostraron una asociación significativa con la presencia de parásitos intestinales. Conclusión. Se confirmó que la población evaluada tiene un alto riesgo de infección por parásitos intestinales, lo que resalta la necesidad de un protocolo de diagnóstico para el cribado de dichos agentes, con el fin de brindar un tratamiento rápido y reducir las posibles complicaciones.

Prevalence of intestinal parasites in a cohort of HIV- infected patients from Antioquia, Colombia / Prevalencia de parásitos intestinales en una cohorte de pacientes positivos para HIV en Antioquia, Colombia

Abstract | Introduction: HIV infection is still a public health problem worldwide and co-infections with other infectious agents including intestinal parasites are of particular concern, mainly in developing countries like Colombia. Objective: To conduct a cross-sectional study in patients attending an HIV care program in Antioquia given that there have been few intestinal parasites prevalence studies among the HIV population in the country. Material and methods: We evaluated stool samples from 192 patients by direct wet mount and concentration, modified Ziehl Neelsen staining, and agar plate culture. Univariate and correlation analyses were done to explore the association between socio-demographic and clinical characteristics and parasitological data. Results: The overall prevalence of intestinal parasites in HIV-positive subjects was 29.2% (56/192; 95% CI: 22.8% - 35.6%). Entamoeba histolytica/dispar/moshkosvkii with 13.0% (25/192; 95% CI: 8.2% - 17.8%) and Blastocystis with 12.0% (23/192; 95% CI: 7.4% -16.6%) were the most frequent. Opportunistic parasites like Cryptosporidium spp. and Cystoisospora belli were less prevalent, each one with 0.5% of positive samples (1/192; 95% CI: 0.1% - 1.5%). Commensal protozoa were also detected with a prevalence of 18.8% (36/192; 95% CI: 13.3% - 24.3%). Most of the individuals in the study had a controlled viral load and an LTCD4 count greater than 200 cel/µL. A small percentage (9.3%) had diarrhea. Bivariate analysis and multivariate logistic regression showed that only age and having pets had a significant association with intestinal parasites in this cohort. Conclusions: Our results confirmed that the evaluated population is at high risk of intestinal parasite infection, which highlights the need for routine screening of gastrointestinal parasites to provide prompt treatment and reduce possible complications.

Resumen | Introducción. La infección por HIV y las coinfecciones con otros agentes infecciosos, incluidos los parásitos intestinales, son motivo de especial preocupación en países en desarrollo como Colombia. Objetivo. Hacer un estudio transversal en pacientes que asisten a un programa de atención de HIV en el departamento de Antioquia, dado que los estudios de prevalencia de parásitos intestinales en la población con HIV son escasos en el país. Materiales y métodos. Se evaluaron 192 muestras de materia fecal mediante examen coprológico directo y por concentración, tinción de Ziehl-Neelsen modificada, y aislamiento en agar. Se hicieron análisis univariados y de correlación, para explorar la asociación entre las características sociodemográficas y clínicas, y los datos parasitológicos. Resultados. La prevalencia global de parásitos intestinales en pacientes positivos para VIH fue del 29.2 % (56/192; IC95% 22.8-35.6 %), siendo Entamoeba histolytica/dispar/moshkosvkii, con 13.0 % (25/192; IC95% 8.2-17.8 %), y Blastocystis, con 12.0 % (23/192; IC95% 7.4-16.6 %), los mas frecuentes. Los parásitos oportunistas Cryptosporidium spp. Y Cystoisospora belli fueron menos prevalentes, cada uno con 0.5 % (1/192; IC95% 0.1-1.5 %) de muestras positivas. También, se detectaron protozoos comensales, con una prevalencia del 18,8 % (36/192; IC95% 13,3-24,3 %). La mayoría de los individuos tenía una carga viral controlada y un recuento de linfocitos T CD4 superior a 200 células/μl. Un pequeño porcentaje (9,3 %) presentó diarrea. La edad y el tener mascotas mostraron una asociación significativa con la presencia de parásitos intestinales. Conclusión. Se confirmó que la población evaluada tiene un alto riesgo de infección por parásitos intestinales, lo que resalta la necesidad de un protocolo de diagnóstico para el cribado de dichos agentes, con el fin de brindar un tratamiento rápido y reducir las posibles complicaciones.

Comparative genomic analysis of the principal Cryptosporidium species that infect humans.

Cryptosporidium parasites are ubiquitous and can infect a broad range of vertebrates and are considered the most frequent protozoa associated with waterborne parasitic outbreaks. The intestine is the target of three of the species most frequently found in humans: C. hominis, C. parvum, and. C. meleagridis. Despite the recent advance in genome sequencing projects for this apicomplexan, a broad genomic comparison including the three species most prevalent in humans have not been published so far. In this work, we downloaded raw NGS data, assembled it under normalized conditions, and compared 23 publicly available genomes of C. hominis, C. parvum, and C. meleagridis. Although few genomes showed highly fragmented assemblies, most of them had less than 500 scaffolds and mean coverage that ranged between 35X and 511X. Synonymous single nucleotide variants were the most common in C. hominis and C. meleagridis, while in C. parvum, they accounted for around 50% of the SNV observed. Furthermore, deleterious nucleotide substitutions common to all three species were more common in genes associated with DNA repair, recombination, and chromosome-associated proteins. Indel events were observed in the 23 studied isolates that spanned up to 500 bases. The highest number of deletions was observed in C. meleagridis, followed by C. hominis, with more than 60 species-specific deletions found in some isolates of these two species. Although several genes with indel events have been partially annotated, most of them remain to encode uncharacterized proteins.

Plastome reduction and gene content in New World Pilostyles (Apodanthaceae) unveils high similarities to African and Australian congeners.

Holoparasitism has led to extreme plastome reduction. Plastomes in the legume holoparasite Pilostyles (Apodanthaceae) are the most reduced in both size and gene content known so far in Embryophytes. Here, we found that the Pilostyles boyacensis plastome, the only American species sequenced so far, is reduced to seven functional genes, accD, rpl2, rrn16 (=16S), rrn23 (=23S), rps3, rps12 and a putative oxidoreductase (PbOx). An additional gene, not annotated in the genome, is actively transcribed between accD and rps12, and by synteny we predict corresponds to rps4. We present data on plastome assembly, transcriptomic data that confirm the transcriptional activity of all genes and describe for the first time six transcript variants of a putative ORF likely having oxidoreductase activity. Our data show that such extreme reduction in P. boyacensis is similar but not identical to that reported in one Australian and one African species of the genus. Such intercontinental similarity suggests that the legume-Pilostyles holoparasitism was already in place during the main African-Australian-South American break-up. We compare plastome content and synteny between the three sequenced species, perform phylogenetic analyses across angiosperms of the six annotated plastome genes, and discuss the odd phylogenetic affinities of 16S and 23S, likely caused by HGT prior the diversification of both legumes and Pilostyles.