This study investigates the kinetics of interleukine-6 (IL-6) and interleukine-10 (IL-10) levels in dengue virus (DENV) infections during the febrile stage. Viremic patients were categorized into two phases based on anti-DENV IgM presence. Among 259 patients, 71% were in Phase I and 29% in Phase II. Secondary infections, accounting for 38.2% of cases, exhibited earlier elevations of IL-6 and IL-10 than primary infections, suggesting that pre-existing immune memory primes faster cytokine release. Thrombocytopenia and elevated aspartate transaminase (AST) levels were associated with Phase II, secondary infections, and hospitalization. Elevated IL-6 and IL-10 levels correlated with low platelet counts, linking them to clinical manifestations. The key finding is that IL-6 and IL-10 levels rise earlier in secondary infections compared to primary infections, whereas elevated cytokine levels typically occur later in the febrile phase. This study highlights the importance of cytokine dynamics in DENV infections, particularly during the early stages. The observation of cytokine concentration changes, especially in viremic samples, provides insights into the progression of dengue disease. Further research with broader cytokine panels is warranted to validate and expand these findings.

The most common infusion in southern Latin-American countries is prepared with dried leaves of Ilex paraguariensis A. St.-Hil., an aboriginal ancestral beverage known for its high polyphenols concentration currently consumed in > 90% of homes in Argentina, in Paraguay and Uruguay. The economy of entire provinces heavily relies on the production, collection and manufacture of Ilex paraguariensis, the fifth plant species with highest antioxidant activity. Polyphenols are associated to relevant health benefits including strong antioxidant properties. Despite its regional relevance and potential biotechnological applications, little is known about functional genomics and genetics underlying phenotypic variation of relevant traits. By generating tissue specific transcriptomic profiles, we aimed to comprehensively annotate genes in the Ilex paraguariensis phenylpropanoid pathway and to evaluate differential expression profiles. In this study we generated a reliable transcriptome assembly based on a collection of 15 RNA-Seq libraries from different tissues of Ilex paraguariensis. A total of 554 million RNA-Seq reads were assembled into 193,897 transcripts, where 24,612 annotated full-length transcripts had complete ORF. We assessed the transcriptome assembly quality, completeness and accuracy using BUSCO and TransRate; consistency was also evaluated by experimentally validating 11 predicted genes by PCR and sequencing. Functional annotation against KEGG Pathway database identified 1395 unigenes involved in biosynthesis of secondary metabolites, 531 annotated transcripts corresponded to the phenylpropanoid pathway. The top 30 differentially expressed genes among tissue revealed genes involved in photosynthesis and stress response. These significant differences were then validated by qRT-PCR. Our study is the first to provide data from whole genome gene expression profiles in different Ilex paraguariensis tissues, experimentally validating in-silico predicted genes key to the phenylpropanoid (antioxidant) pathway. Our results provide essential genomic data of potential use in breeding programs for polyphenol content. Further studies are necessary to assess if the observed expression variation in the phenylpropanoid pathway annotated genes is related to variations in leaves’ polyphenol content at the population scale. These results set the current reference for Ilex paraguariensis genomic studies and provide a substantial contribution to research and biotechnological applications of phenylpropanoid secondary metabolites.

Pompe disease (PD) is a rare progressive autosomal recessive disorder resulting from the deficiency of acid alpha-glucosidase (GAA) enzyme activity. Due to its multisystemic involvement, PD leads to significant morbidity and impacts patients' quality of life. Despite the availability of approved disease-modifying treatments, the prompt diagnosis and management of PD, which are crucial for patient outcomes, still present several challenges. This scoping review aimed to synthesize the evidence regarding methods for screening, diagnosing, and following up PD. We searched articles in English and Spanish published from 2017 to February 8, 2022, across 11 databases (i.e., Cochrane Database of Systematic Reviews, Directory of Open Access Journals (DOAJ), Epistemonikos, Ingenta Connect, Medline/PubMed, SAGE, SciELO Citation Index, ScienceDirect, Springer Link, Virtual Health Library, and Wiley Online Library). We included primary studies (i.e., case reports, case series, cross-sectional studies, case controls, cohorts, clinical trials, and qualitative studies), reviews, and guidelines that described at least one assessment method for patients with confirmed clinical, genetic, or biochemical PD. Two independent reviewers screened and extracted data from articles, with a third reviewer solving conflicts. We synthesized data with narrative summaries and descriptive statistics. After screening 2,139 titles and abstracts, we included 96 eligible articles. Cross-sectional studies (n = 30) and guidelines (n = 1) were the most and least prevalent designs, respectively. Most studies targeted late-onset PD (LOPD, n = 48) and infantile-onset PD (IOPD, n = 21). Eleven articles described newborn screening programs, highlighting their potential to improve PD prevalence estimations and still limited availability among countries. Overall, 81 articles documented clinical manifestations of PD. Hypotonia (n = 7) and hypertrophic cardiomyopathy (n = 7) were the most documented for IOPD, while progressive muscle weakness (n = 21) and dyspnea (n = 11) were the most prevalent for LOPD. We found 26 articles reporting biochemical assays, with dried blood spots (DBS) for GAA enzyme deficiency detection being the most cited (n = 19). We also noted a lack of standardization in documenting DBS results. Additionally, 21 articles mentioned genetic studies, with next-generation sequencing emerging as the gold standard for identifying mutated alleles. Functional studies were the most utilized to follow up with patients. However, monitoring strategies for pediatric and adult PD lacked consensus, and only one article assessed patients' quality of life. This review comprehensively evaluated the literature on PD screening, diagnosis, and follow-up methods, identifying prevalent techniques within each assessment category. We emphasized the need for a more standardized approach to reporting biochemical assays, genetic testing, and clinical presentations. Our review also underscored the critical lack of standardization in PD follow-up. Addressing these gaps will enhance the comparability of future research findings and improve the quality of PD-related healthcare. Limitations of this review included restricting eligible languages and publication years to the latest five, the methodological heterogeneity of selected articles, and the lack of individual study bias assessment.

Similarly to other populations across the Americas, Argentinean populations trace back their genetic ancestry into African, European and Native American ancestors, reflecting a complex demographic history with multiple migration and admixture events in pre- and post-colonial times. However, little is known about the sub-continental origins of these three main ancestries. We present new high-throughput genotyping data for 87 admixed individuals across Argentina. This data was combined to previously published data for admixed individuals in the region and then compared to different reference panels specifically built to perform population structure analyses at a sub-continental level. Concerning the Native American ancestry, we could identify four Native American components segregating in modern Argentinean populations. Three of them are also found in modern South American populations and are specifically represented in Central Andes, Central Chile/Patagonia, and Subtropical and Tropical Forests geographic areas. The fourth component might be specific to the Central Western region of Argentina, and it is not well represented in any genomic data from the literature. As for the European and African ancestries, we confirmed previous results about origins from Southern Europe, Western and Central Western Africa, and we provide evidences for the presence of Northern European and Eastern African ancestries.Author Summary: The human genetic diversity in Argentina reflects demographic processes during which the European colonists invaded a territory where Native American populations were settled. During the colonial period, the slave trade also prompted many African people to move to Argentina. Little is known about the origins of these three continental ancestry components in Argentinean populations nowadays. Genotyping data for 87 admixed individuals throughout Argentina was generated and data from the literature was re-analyzed to shed light on this question. We confirmed that most of the European genetic ancestry comes from the South, although several individuals are related to Northern Europeans. We confirmed that the African origins in Argentina mainly trace back from Western and Central/Western regions, and we document some proportion of Eastern African origins poorly described before. As for the Native American ancestry, we identified that it can be divided into four main components that correspond to Central Chile/Patagonia, Subtropical and Tropical Forests, Central Andes and Central Western region of Argentina. In order to understand the specificity of the genetic diversity in Argentina, more effort is required to generate specific massive genomic knowledge at the local level.

Misiones province covers < 1% of Argentina’s land area yet harbors > 50% of the country’s biodiversity, with a significant remnant of Atlantic Forest, a global biodiversity hotspot. Approximately 540,000 ha of this native forest is protected, with the remaining areas facing threats from ongoing land conversion, an expanding road network, and a growing rural population. A prior study incorporated noninvasive data on five carnivores into a multifaceted cost analysis to define the optimal location for a multispecies biological corridor, with the goal of enhancing landscape connectivity among protected areas. Subsequent analyses, with an updated framework, emphasized management strategies that balanced human–wildlife coexistence and habitat needs. Building on these efforts, our study applied ecological niche modeling to data located by conservation detection dogs, with genetics used to confirm species identity, and two land-use scenarios, to predict potential distributions of three game species—lowland tapir (Tapirus terrestris), white-lipped peccary (Tayassu pecari), and collared peccary (Pecari tajacu)—that are not only threatened by poaching, road mortality, and habitat loss but also serve as essential prey for carnivores. We assessed the suitability of unique and overlapping vegetation types, within and outside of protected areas, as well as within this multispecies corridor, identifying zones of high conservation concern that underscore the need for integrated planning of predators and prey. These results highlight that ensuring the long-term viability of wildlife across the heterogeneous land-use matrices of Misiones requires going beyond protected areas to promote functional connectivity, restore degraded habitats, and balance human–wildlife needs.

Peripheral blood mononuclear cells (PBMCs) from patients with ocular toxoplasmosis were challenged with Toxoplasma gondii lysate antigen (TLA) in a cytokine release assay (CRA), run during the inactive period of the disease. Increased interferon gamma (IFN-γ) levels were detected after PBMC stimulation with either ME49 reference strain (P = 0.0015) or local TgCkAr-11-9 isolate (P = 0.0012), as compared with those recorded under basal conditions. TLA from TgCkAr11-9 isolate induced a higher release of IFN-γ than ME49 strain CRA from all tested patients (P = 0.02). The median value of IFN-γ release on TgCkAr-11-9 stimulation (26.03 pg/mL) allowed the classification of patients into high– or low–/non–IFN-γ releasers. Clinical correlations were established with both groups. The results obtained in this study suggest the need to include local strains when performing CRA with T. gondii TLA.