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New Insights into Leishmaniasis and Chagas Disease: Focus on Diagnosis and Genetic Characterization of the Parasites

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A special issue of Life (ISSN 2075-1729). This special issue belongs to the section "Epidemiology".

Deadline for manuscript submissions: closed (6 October 2023) | Viewed by 4567

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Special Issue Editors

Dr. Alba Abras

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Guest Editor

Àrea de Genètica, Departament de Biologia, Universitat de Girona, Girona, Spain
Interests: diagnostics; neglected tropical diseases; genetics; genetic diversity

Dr. Anna Fernández-Arévalo

E-Mail Website
Guest Editor

Secció de Parasitologia, Departament de Biologia, Sanitat i Medi Ambient, Facultat de Farmàcia, Universitat de Barcelona, Barcelona, Spain
Interests: genetic diversity; taxonomy; leishmaniasis; intestinal parasites; microbiota

Special Issue Information

Dear Colleagues,

Leishmaniasis and Chagas disease (CD), caused by the kinetoplastid protozoa Leishmania spp. and Trypanosoma cruzi, respectively, are among the most relevant Neglected Tropical Diseases (NTDs). Both infections affect millions of people worldwide and are considered a global challenge.

Leishmaniasis is endemic in more than 90 territories, and an increasing number of non-endemic countries also face imported cases as a consequence of globalization. Clinical manifestations and disease outcomes are diverse depending on several patient-related factors, as well as the Leishmania species involved. Therefore, both diagnostic and typing techniques are essential to guide patient management and treatment. Besides, parasite characterization contributes to improving surveillance and disease control, allowing us to monitor the geographical distribution of the strains, and their epidemiological cycles and to detect outbreaks. Nevertheless, the great heterogeneity surrounding Leishmania makes it particularly challenging. Nowadays, a wide range of techniques are available, and each laboratory run those that best suit their needs and the question to be answered.

On the other hand, CD has gradually spread from Latin America to the world and is now transmitted in non-endemic countries through non-vectorial routes such as congenital transmission. Early diagnosis and treatment are essential in managing the infection. However, the wide diversity of available diagnostic methods, algorithms and protocols among regions highlights the need for a common and agreed strategy. In addition, although the associations with the clinical presentation of the disease are not yet well understood, the genetic diversity of T. cruzi also seems to play a key role in CD diagnosis. Unfortunately, taxonomic studies are hampered by the lack of standardized molecular typing methods and the use of alternative nomenclatures over the years. The current consensus is based on Discrete Typing Units (DTUs) as T. cruzi genetic subdivisions.

We are pleased to invite you to contribute to this Special Issue focused on the diagnosis and genetic diversity of these important parasitic infections with original articles, reviews and short communications. Our aim is to keep abreast of the latest developments in the field as well as gather new insights and perspectives. Potential topics may include (but are not limited to) the following:

Laboratory diagnostics of Leishmaniasis and Chagas disease.
Detection and characterization of Leishmania and T. cruzi parasites in humans, vectors and reservoirs.
Identification of Leishmania species and intra-species genetic diversity.
-Identification of T. cruzi DTUs and genetic variability intra-DTUs.

We look forward to receiving your proposals.

Dr. Alba Abras
Dr. Anna Fernández-Arévalo
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Life is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

Leishmania
leishmaniasis
Chagas disease
american trypanosomiasis
Trypanosoma cruzi
diagnostics
genetic diversity
characterization
neglected tropical disease

Published Papers (3 papers)

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Research

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23 pages, 3433 KiB

Open AccessArticle

Narrowing the Relationship between Human CCR5 Gene Polymorphisms and Chagas Disease: Systematic Review and Meta-Analysis

by Jean Moisés Ferreira, Barbara Rayssa Correia dos Santos, Edilson Leite de Moura, Ana Caroline Melo dos Santos, Jean Carlos Vencioneck Dutra, Elaine Virgínia Martins de Sousa Figueiredo and José Luiz de Lima Filho

Life 2023, 13(8), 1677; https://doi.org/10.3390/life13081677 - 2 Aug 2023

Viewed by 952

Abstract

Our aim was to carry out a qualitative and quantitative synthesis of the influence of CCR5 genetic variants on Chagas disease (CD) through a systematic review. A total of 1197 articles were analyzed, and eleven were included in the review. A meta-analysis was conducted along with principal component analyses (PCAs). The polymorphisms found were analyzed using the SNP2TFBS tool to identify possible variants that influence the interaction with gene binding sites. Eleven studied variants were identified: rs2856758, rs2734648, rs1799987, rs1799988, rs41469351, rs1800023, rs1800024, Δ32/rs333, rs3176763, rs3087253 and rs11575815. The studies analyzed were published between 2001 and 2019, conducted in Argentina, Brazil, Spain, Colombia and Venezuela, and included Argentine, Brazilian, Colombian, Peruvian and Venezuelan patients. Eight polymorphisms were subjected to the meta-analysis, of which six were associated with the development of the cardiac form of CD: rs1799987—G/G and G/A in the dominance model and G/G in the recessiveness model; rs2856758—A/G in the codominance model; rs2734648—T/T and T/G in the dominance model; rs1799988—T/T in both the codominance and recessiveness models; rs1800023—G allele and the G/G genotype in the codominance and recessiveness models, and the G/G and G/A genotypes in the dominance model; and rs1800024—T allele. The PCA analyses were able to indicate the relationships between the alleles and the genotypes of the polymorphisms. The SNP2TFBS tool identified rs1800023 as an influencer of the Spi1 transcription factor (p < 0.05). A correlation was established between the alleles associated with the cardiac form of CD in this review, members of the C haplotype of the gene (HHC–TGTG), and the cardiac form of CD. Full article

(This article belongs to the Special Issue New Insights into Leishmaniasis and Chagas Disease: Focus on Diagnosis and Genetic Characterization of the Parasites)

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16 pages, 2682 KiB

Open AccessArticle

Validation of the NAT Chagas IVD Kit for the Detection and Quantification of Trypanosoma cruzi in Blood Samples of Patients with Chagas Disease

by Otacilio C. Moreira, Alice Gomes Fernandes, Natalia Lins da Silva Gomes, Carolina Messias dos Santos, Thiago Jacomasso, Alexandre Dias Tavares Costa, Lucas de O. Rossetti Nascimento, Alejandro Marcel Hasslocher-Moreno, Pedro Emmanuel Alvarenga Americano do Brasil, Luis Gustavo Morello, Fabricio Klerynton Marchini, Marco Aurelio Krieger and Constança Britto

Life 2023, 13(6), 1236; https://doi.org/10.3390/life13061236 - 24 May 2023

Cited by 1 | Viewed by 1519

Abstract

In the absence of validated biomarkers to control the cure of Chagas disease, PCR-based diagnosis is being used as the main tool for an early indication of therapeutic failure. However, since it is considered a technique of complex reproducibility, mainly due to difficulties in establishing accurate controls to guarantee the quality of the reaction, the use of PCR for Chagas disease diagnosis is restricted to specialized centers. In an effort to disseminate the molecular diagnosis of Chagas disease and its applications, new diagnostic kits based on qPCR have been made available in the market in recent years. Here, we show the results of the validation of the NAT Chagas kit (Nucleic Acid Test for Chagas Disease) for the detection and quantification of T. cruzi in blood samples of patients suspected of Chagas disease infection. The kit, composed of a TaqMan duplex reaction targeting the T. cruzi satellite nuclear DNA and an exogenous internal amplification control, presented a reportable range from 10⁴ to 0.5 parasite equivalents/mL and a limit of detection (LOD) of 0.16 parasite equivalents/mL of blood. In addition, the NAT Chagas kit detected T. cruzi belonging to all six discrete typing units (DTUs—TcI to TcVI), similarly to the in-house real-time PCR performed with commercial reagents, which has been selected as the best performance assay in the international consensus for the validation of qPCR for Chagas disease. In the clinical validation presented here, the kit showed 100% sensitivity and 100% specificity when compared to the consensus in-house real-time PCR assay. Thus, the NAT Chagas kit, which is produced entirely in Brazil under the international standards of good manufacturing practices (GMP), appears as an excellent alternative to enable the molecular diagnosis of Chagas disease in public and private diagnostic centers, as well as to facilitate the monitoring of patients under etiological treatment participating in clinical trials. Full article

(This article belongs to the Special Issue New Insights into Leishmaniasis and Chagas Disease: Focus on Diagnosis and Genetic Characterization of the Parasites)

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Review

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27 pages, 1256 KiB

Open AccessReview

Fifteen Years after the Definition of Trypanosoma cruzi DTUs: What Have We Learned?

by Bianca Zingales and Andréa M. Macedo

Life 2023, 13(12), 2339; https://doi.org/10.3390/life13122339 - 14 Dec 2023

Cited by 5 | Viewed by 1175

Abstract

Trypanosoma cruzi, the protozoan causative of Chagas disease (ChD), exhibits striking genetic and phenotypic intraspecific diversity, along with ecoepidemiological complexity. Human-pathogen interactions lead to distinct clinical presentations of ChD. In 2009, an international consensus classified T. cruzi strains into six discrete typing units (DTUs), TcI to TcVI, later including TcBat, and proposed reproducible genotyping schemes for DTU identification. This article aims to review the impact of classifying T. cruzi strains into DTUs on our understanding of biological, ecoepidemiological, and pathogenic aspects of T. cruzi. We will explore the likely origin of DTUs and the intrinsic characteristics of each group of strains concerning genome organization, genomics, and susceptibility to drugs used in ChD treatment. We will also provide an overview of the association of DTUs with mammalian reservoirs, and summarize the geographic distribution, and the clinical implications, of prevalent specific DTUs in ChD patients. Throughout this review, we will emphasize the crucial roles of both parasite and human genetics in defining ChD pathogenesis and chemotherapy outcome. Full article

(This article belongs to the Special Issue New Insights into Leishmaniasis and Chagas Disease: Focus on Diagnosis and Genetic Characterization of the Parasites)

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