No 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 conducte a cross-sectional research in patients attending an HIV care program in the province of Antioquia, given that intestinal prevalence studies on the HIV population are few in the country,. Material and methods: Stool samples from 192 patients were evaluated 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, 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% to 35.6%), being Entamoeba histolytica/dispar/ moshkosvkii 13.0% (25/192; 95%CI: 8.2% to 17.8%), and Blastocystis  12.0% (23/192; 95%CI: 7.4% to 16.6%) 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% to 1.5%). Commensal protozoa were also detected, with a prevalence of  18.8% (36/192; 95%CI: 13.3% to 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 the studied cohort. Conclusions: Our results confirm that the population evaluated is at high risk of intestinal parasite infection, which highlights the need to include routine screening for gastrointestinal parasites to  provide prompt treatment and reduce possible complications.

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.

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.

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.