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Background and Objectives: Missense variants in exon 7 of the ABO gene can lead to the formation of cisAB alleles. These alleles encode glycosyltransferases (GTs) capable of synthesizing both A and B antigens. In this study, we report the discovery of a novel cisAB allele and characterize it at molecular, protein and serological levels., Materials and Methods: Blood and DNA samples from the proband and seven relatives were examined using standard and modified ABO phenotyping, polymerase chain reaction-restriction fragment length polymorphism and ABO gene sequencing. We assessed the impact of the p.Leu324Ser variant on the protein structure of the mutant GT using bioinformatics tools., Results: Molecular tests revealed a c.971T>C (p.Leu324Ser) variant in the ABO gene in five of the eight individuals. This variant results in a GT that produces more A antigens and fewer B antigens. Bioinformatics analysis suggests that the amino acid substitution (p.Leu324Ser) could potentially affect enzymatic activity and specificity of the GT., Conclusion: We identified a novel cisAB allele resulting from a c.971T>C variant in the ABO gene. This variant led to the expression of an AB weak phenotype., (© 2024 International Society of Blood Transfusion.)

Competing Interests: Conflicts of interest The author declares no conflicts of interest.

Ocular toxoplasmosis (OT) is characterised by intraocular inflammation due to Toxoplasma gondii infection. Studies have found that interleukin 17 (IL-17) plays a central role in the pathology of OT. However, nucleotide variability in IL17 and interleukin 17 receptor (IL17R) genes has not been characterised in OT. As cytokine gene polymorphisms may influence the expression of these molecules, the aim of this study was to verify whether IL17A (rs2275913), IL17F (rs763780), IL17RA (rs4819554) and IL17RC (rs708567) polymorphisms are associated with OT in a Brazilian population. This study enrolled 214 patients seropositive for T. gondii (110 with OT and 104 without) and 107 controls. Polymorphisms were identified by PCR-restriction fragment length polymorphism analysis, validated by DNA sequencing with chi-square and multivariate analyses being used to assess possible associations between polymorphisms and OT. Logistic regression under the dominant model revealed a protection factor against OT of the C mutant allele of the IL17F (rs763780) polymorphism. The T/C-C/C genotypes were significantly more common in patients without OT compared to those with OT (p value = 0.0066) and controls (p value = 0.014). Findings from this study suggest that the IL17F polymorphism may have an influence in the immunopathology of OT in Brazilian individuals., (© 2024 John Wiley & Sons Ltd.)

Background: Toxoplasmosis is one of the most common parasitic infections worldwide with varying prevalence between human populations. These variations are mainly associated with human exposure to risk factors. In this article, the seroprevalence of Toxoplasma gondii infection and the risk factors associated with infection in 1729 blood donors from São José do Rio Preto, São Paulo, Brazil were analysed., Methods: The serological tests for detecting immunoglobulin M (IgM) and immunoglobulin G (IgG) anti-T. gondii were used. The risk factors associated with the infection were identified through the application of an epidemiological questionnaire., Results: The prevalence of T. gondii infection was 48.0%. The following factors were identified in the final model after multiple logistic regression analysis: drinking raw milk (p=0.003; odds ratio [OR] 1.364 [confidence interval {CI} 1.1 to 1.7]), residing in a rural area (p<0.0001; OR 2.764 [CI 1.7 to 4.6]) and receiving a blood transfusion (p=0.015; OR 1.856 [CI 1.1 to 3.0])., Conclusions: The data obtained in this study showed that the blood donor population is exposed to risk factors related to infection by T. gondii. These data allow the establishment of control programs to contribute to public health in northwestern São Paulo state., (© The Author(s) 2023. Published by Oxford University Press on behalf of Royal Society of Tropical Medicine and Hygiene.)

Retinal lesions, including cotton-wool exudates, microbleeds, vascular occlusions and vasculitis, occur in a minority of Coronavirus Disease-19 (COVID-19) patients. Retinal assessments using retinography can help document these lesions. The objective of this work was to identify retinal changes in patients admitted to the ward with a positive Real Time Quantitative Polymerase Chain Reaction (RT-qPCR) exam for COVID-19. A cross-sectional, observational study was carried out of patients with mild and moderate symptoms admitted to the Hospital de Base in São José do Rio Preto. The Eyer® portable retinal camera (Phelcom® Technologies) was used to evaluate 30 male and 21 female patients. The ages ranged from 21 to 83 years (mean: 47 years). Systemic arterial hypertension was identified in 21 (41.2 %) and diabetes mellitus in 12 (23.5 %) patients. Six (11.7 %) reported worsening visual acuity, however, none of these patients had ocular findings to justify this complaint. Ten patients (19.6 %) had intraretinal hemorrhages; one (1.9 %) had cotton-wool exudates and seven (13.7 %) had dilations of veins. Thirteen patients (25.4 %) had vascular tortuosity and six (11.7 %) had pathological arteriovenous crossings. Portable retinography is useful to evaluate patients admitted to isolation wards due to COVID-19. It is important to remember that some of the patients investigated had comorbidities like diabetic maculopathy and systemic arterial hypertension. Hence, some care should be taken in attributing these observations uniquely to COVID-19 infection., Competing Interests: Declaration of competing interest The authors declare that they have no conflict of interest. The authors are solely responsible for the content of this work., (Copyright © 2024 The Author(s). Published by Elsevier B.V. All rights reserved.)

Introduction: Mental health disorders (MHDs) are responsible for much impairment of quality of life in Brazil and worldwide. Early diagnosis and effective treatment strategies are required due to the heterogeneous symptoms and multifactorial etiology., Methods: A descriptive retrospective observational study was performed aiming to characterize the clinical and psychiatric profiles of patients with MHD attending a Brazilian public tertiary psychiatric outpatient clinic, which is a reference health service for more than 2 million inhabitants. Predominant clinical and sociodemographic aspects of patients were evaluated between March 2019 and March 2021., Results: A total of 8,384 appointments were analyzed. The majority of patients were female, and the mean age was 45 years old. Generalized anxiety disorder (GAD) was the most common MHD. The prevailing symptoms were sadness, anxiety, and irritability, with the most prescribed medications being selective serotonin reuptake inhibitors., Conclusion: The epidemiological characterization of mental disorders in specialized mental health outpatient clinics provides evidence for the establishment of more specific protocols and advocates a dimensional transdiagnostic approach as an aid to public mental health services., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Camargos, Garcia, de Almeida, Lopes, Borghi, de Araújo Filho, de Mattos and Brandão.)

Toxoplasmosis causes serious harm to the fetus, as tachyzoite dissemination, during pregnancy in women developing the primo-infection. The microRNAs (miRNAs) are small non-coding RNAs, which have regulatory roles in cells by silencing messenger RNA. Circulating miRNA are promising biomarkers for diagnosis and prognosis of numerous diseases. The miRNAs levels are estimated by quantitative real-time PCR (qPCR), however, the relative quantification of each miRNA expression requires proper normalization methods using endogenous miRNAs as control. This study analyzed the expression of three endogenous miRNAs (miR-484, miR -423-3p and miR-26b-5p) for use as normalizers in future studies of target miRNAs for gestational toxoplasmosis (GT). A total of 32 plasma samples were used in all assays divided in 21 from women with GT and 11 from healthy women. The stability of each endogenous miRNA was evaluated by the algorithm methods RefFinder that included GeNorm, Normfinder, BestKeeper and comparative delta-CT programs. The miR-484 was the most stably gene, and equivalently expressed in GT and NC groups. These results contribute to future studies of target miRNAs in clinical samples of women with gestational toxoplasmosis., Competing Interests: Declaration of Competing Interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Cristina da Silva Meira Strejevitch reports financial support was provided by Fundação de Amparo à Pesquisa do Estado de São Paulo, Brasil (FAPESP)., (Copyright © 2023 Elsevier B.V. All rights reserved.)

Background: Ocular toxoplasmosis (OT) is a frequent clinical manifestation due to infection by Toxoplasma gondii. It is characterized by an inflammatory process involving macrophages activated by pro-inflammatory cytokines. The expression of microRNAs takes place during the inflammatory process and, among them, miRNA 511 regulates the activation of macrophages. This study evaluated the expression of miRNA 511&#95;5p in patients with OT and healthy controls., Methods: A total of 361 patients from the Hospital de Base of Fundação Faculdade de Medicina de São José do Rio Preto were enrolled and divided into four groups: G1-patients with active ocular lesions and reagent serology for T. gondii; G2-patients with scars and reagent serology for T. gondii; G3-patients without ocular lesions or scars and reagent serology for T. gondii; G4-patients without ocular lesions or scars and non-reagent serology for T. gondii. All patients underwent clinical and laboratory evaluation to confirm the diagnosis of OT. Serology tests, RNA extraction and cDNA synthesis were performed., Results: The miRNA 511&#95;5p levels were compared among the groups. The G1 group showed a high blood plasma concentration of miRNA 511&#95;5p (mean 22.34) compared with the G2 (4.65), G3 (8.91) and G4 (3.52) groups (p<0.0001)., Conclusion: These data suggest that miRNA 511&#95;5p has significant potential as a biomarker for OT., (© The Author(s) 2023. Published by Oxford University Press on behalf of Royal Society of Tropical Medicine and Hygiene.)

Introduction: Ocular toxoplasmosis (OT) is an intraocular inflammation caused by Toxoplasma gondii infection that affects the retina and choroid, giving rise to posterior uveitis. Genetic polymorphisms in cytokine genes may exert influence in the expression of these molecules and play a significant role in inflammatory responses and susceptibility to OT. The aim of this study was to evaluate the role of polymorphisms rs16944 (-511 C > T) of the interleukin (IL) 1β gene and rs1800896 (-1082 G > A) of the IL10 gene on OT in Brazilian individuals with a serologic diagnosis of T. gondii and after conducting fundoscopic exams., Methods: Participants with a positive serology were classified into two distinct groups according to the presence (G1; n  = 110) or absence (G2; n  = 104) of OT. The control group (G3) consisted of individuals without the infection ( n  = 108)., Results: It was observed that the C/C genotype of the IL1β gene polymorphism was a protective factor for OT ( p  = 0.02, OR = 0.28, 95% CI 0.08-0.78 for G1 vs. G2; p  = 0.03; OR = 0.29, 95% CI 0.09-0.82 for G1 vs. G3), according to the recessive inheritance model., Conclusions: The -511C.T polymorphisms of the IL1β gene seems to play an important role in the pathogenesis of OT in Brazilian individuals., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Araujo, Ayo, Previato, de Faria, Frederico, Siqueira, de Almeida, Pereira-Chioccola, de Mattos and Brandão.)

Purpose: To assess the efficiency of an index derived from multiple logistic regression analysis (MLRA) to measure differences in corneal tomography findings between subclinical keratoconus (KC) in 1 eye, corneal ectasia, and healthy corneas., Setting: 2 private Brazilian ophthalmological centers., Design: Multicenter case-control study., Methods: This study included 187 eyes with very asymmetric ectasia and with normal corneal topography and tomography (VAE-NTT) in the VAE-NTT group, 2296 eyes with healthy corneas in the control group (CG), and 410 eyes with ectasia in the ectasia group. An index, termed as Boosted Ectasia Susceptibility Tomography Index (BESTi), was derived using MLRA to identify a cutoff point to distinguish patients in the 3 groups. The groups were divided into 2 subgroups with an equal number of patients: validation set and external validation (EV) set., Results: 2893 patients with 2893 eyes were included. BESTi had an area under the curve (AUC) of 0.91 with 86.02% sensitivity (Se) and 83.97% specificity (Sp) between CG and the VAE-NTT group in the EV set, which was significantly greater than those of the Belin-Ambrósio Deviation Index (BAD-D) (AUC: 0.81; Se: 66.67%; Sp: 82.67%; P < .0001) and Pentacam random forest index (PRFI) (AUC: 0.87; Se: 78.49%; Sp: 79.88%; P = .021)., Conclusions: BESTi facilitated early detection of ectasia in subclinical KC and demonstrated higher Se and Sp than PRFI and BAD-D for detecting subclinical KC., Competing Interests: Disclosures: R. Ambrósio Jr is a consultant for Oculus Optikgeräte GmbH. The other authors do not have any conflict of interest., (Copyright © 2022 Published by Wolters Kluwer on behalf of ASCRS and ESCRS.)

Background: Zika virus (ZIKV) is an emerging arbovirus associated with foetal malformations and neurological complications. The infection is usually associated with mild symptoms. The comparison between the allelic frequency of polymorphic genes in symptomatic infected individuals in the population can clarify the pathogenic mechanisms of ZIKV. During ZIKV infection, cytokines are produced and natural killer (NK) cells are recruited, whose activation depends on signaling pathways activated by specific receptors, such as killer cell immunoglobulin-like receptors (KIR). These molecules interact with human leukocyte antigen (HLA) class I ligands and are encoded by polymorphic genes., Objectives: This study aimed to evaluate the frequency of allelic variants of the genes encoding the KIR receptors and their HLA class I ligands in 139 symptomatic ZIKV-patients and 170 controls negative for the virus, and to evaluate the role of these variants for ZIKV susceptibility., Methods: KIR and HLA class I genes were genotyped using the polymerase chain reaction-sequence specific oligonucleotide (PCR-SSO) technique., Findings: No significant differences in the frequency distribution of KIRs and KIR-HLA in patients compared to controls were observed., Main Conclusions: KIR and its HLA ligands might play a minor role in ZIKV infection in the south and southeast Brazilian individuals.

Background: One of the main impacts of Toxoplasma gondii infection occurs during pregnancy and is related to the vertical transmission of the parasite (congenital toxoplasmosis), which can cause severe clinical outcomes and fetal death. During acute infection, in order to control the rapid replication of tachyzoites, different host immune response genes are activated, and these include cytokine-encoding genes. Considering that polymorphisms in cytokine genes may increase susceptibility to vertical transmission of T. gondii by determining the immune status of the pregnant woman, this study evaluated the influence of polymorphisms of tumor necrosis factor alpha (TNFα) rs1799964 (- 1031) and interleukin 1 beta (IL1β) rs16944 (- 511) genes on gestational toxoplasmosis and on the vertical transmission of the parasite and verified the allele and genotype frequency of these polymorphisms in pregnant patients whose respective newborn did or did not present clinical abnormalities suggestive of congenital toxoplasmosis., Methods and Results: A total of 204 pregnant patients with (n = 114) or without (n = 90) infection by T. gondii were enrolled. No associations were found involving the polymorphisms rs1799964 (- 1031) of the TNFα gene and rs16944 (- 511) of the IL1β gene with the increased chance of T. gondii infection during pregnancy. However, it was observed that the maternal TT genotype referring to the polymorphism of the TNFα gene seems to influence the vertical transmission of the parasite (P = 0.01; χ 2  = 6.05) and the presence of clinical manifestation in newborns from pregnancies with acute toxoplasmosis (P = 0.007; χ 2  = 9.68)., Conclusion: The TNFα rs1799964 TT genotype may act as a susceptibility factor for the vertical transmission of parasite and for the presence of clinical signs in newborns from pregnant women with acute toxoplasmosis., (© 2022. The Author(s), under exclusive licence to Springer Nature B.V.)

Purpose: To identify inherited or acquired mutations in the VSX1, SOD1, TIMP3 and LOX genes from the combined analysis of corneal and blood samples from patients with Keratoconus., Methods: The casuistry was consisted of samples of peripheral blood and corneal epithelium from 35 unrelated patients with Keratoconus who were submitted to corneal crosslink treatment. Also, blood and corneal epithelium samples from 89 non-keratoconic patients were used to compose the control group. Ophthalmologic evaluations included a clinical examination, topography and tomography. DNA samples were extracted from peripheral blood and from corneal epithelium in both groups and all coding regions of the VSX1, SOD1, TIMP3 and LOX genes were amplified by polymerase chain reaction, denatured and subjected to polyacrylamide gel electrophoresis. Mutational screening was performed by single -s trand conformation polymorphism and direct DNA sequencing., Results: No pathogenic variant was found in all coding regions of VSX1, SOD1, TIMP3 and LOX genes, we detected only few SNPs (single-nucleotide polymorphisms). Among the polymorphisms stand out three of them, corresponding to the synonymous exchange of amino acids: exon 3 of VSX1 Ala182Ala and exon 3 of TIMP3 His83His and Ser87Ser; in patients with Keratoconus and also in control subjects. All the polymorphisms were found in samples of corneal epithelium and corresponding blood., Conclusion: There is absence of KC pathogenic related to mutations in the VSX1, SOD1, TIMP3 and LOX genes in the studied patients.

Background: Until a few years ago, keratoconus was defined as a noninflammatory degenerative disease. However, recent studies have shown that the altered balance between inflammatory cytokines, proteases, and protease inhibitors, as well as free radicals and oxidants, have a crucial role in the pathogenesis of this disease. The aim of this study is to investigate whether interleukin 17 A G197A (rs2275913) and interleukin 17 F T7488C (rs763780) polymorphisms are associated with keratoconus in patients from a population of the northwestern region of the State of São Paulo, Brazil., Methods and Results: 35 patients and 61 controls were enrolled. Genotyping of interleukin 17 A G197A and interleukin 17 F T7488C polymorphisms was carried out using the polymerase chain reaction-restriction fragment length polymorphism technique. Statistical analyses were conducted using the chi-square test, and an odds ratio with a 95% confidence interval was also calculated to evaluate the association between polymorphisms and disease. Evaluating interleukin 17 F T7488C, we found that the TT genotype is associated as a risk factor for keratoconus (P = 0.04; OR = 3.01; CI 1.11-8.14). As for evaluating interleukin 17 A G197A, the allele and genotype frequencies between patients and controls were compared and no statistically significant differences were found., Conclusions: Our data showed that the interleukin 17 F T7488C polymorphisms may exert an influence in keratoconus., (© 2021. The Author(s), under exclusive licence to Springer Nature B.V.)

The glycosyltransferases encoded by genes from the human ABO, Lewis, and Secretor histo-blood group systems synthesize part of the carbohydrate antigens in hematopoietic and non-hematopoietic tissues. The combined action of these glycosyltransferases strongly influences cell, tissue, mucosa, and exocrine secretion carbohydrate phenotypes, including those serving as habitat for mutualistic and pathogenic microorganisms. A set of reports investigated associations between Toxoplasma gondii infection and the ABO histo-blood group system, but the results are contradictory. As T. gondii uses the gastrointestinal tract as a route for infection, and in this organ, the expression of ABO, Lewis, and Secretor histo-blood group carbohydrates occurs, it is reasonable to suppose some biological relationship between them. This text reviewed association studies published in recent decades focusing on the potential contribution of the ABO, Lewis, and Secretor histo-blood group carbohydrates and infection by T. gondii ., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 De Mattos, Ferreira, de Oliveira, Nakashima and Brandão.)

MicroRNAs are molecules belonging to an evolutionarily conserved family of small non-coding RNAs, which act on post-transcriptional gene regulation, causing messenger RNA (mRNA) degradation or inhibiting mRNA translation into proteins. These molecules represent potential biomarkers for diagnosis, non-invasive prognosis, and monitoring the development of the disease. Moreover, they may provide additional information on the pathophysiology of parasitic infections and guide strategies for treatment. The Apicomplexan parasite Toxoplasma gondii modifies the levels of microRNAs and mRNAs in infected host cells by modulating the innate and adaptive immune responses, facilitating its survival within the host. Some studies have shown that microRNAs are promising molecular markers for developing diagnostic tools for human toxoplasmosis. MicroRNAs can be detected in human specimens collected using non-invasive procedures. changes in the circulating host microRNAs have been associated with T. gondii infection in mice and ocular toxoplasmosis in humans. Besides, microRNAs can be amplified from samples using sensitive and molecular-specific approaches such as real-time PCR. This review presents recent findings of the role that microRNAs play during T. gondii infection and discuss their potential use of these small nuclei acid molecules to different approaches such as laboratory diagnosis, modulation of cell and tissue infected as other potential applications in human toxoplasmosis., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 de Faria Junior, Murata, Lorenzi, Castro, Assoni, Ayo, Brandão and de Mattos.)

Duffy blood group phenotypes [Fy(a + b-), Fy(a-b+), Fy(a + b+), Fy(a-b-)], characterized by the expression of Fy a , and Fy b antigens, are present in red blood cells. Therefore, we hypothesize that the non-hematopoietic expression of these antigens might influence cell invasion by T. gondii. 576 consecutive patients from both genders were enrolled. The presumed OT clinical diagnosis was performed. Duffy phenotyping was performed by hemagglutination in gel columns and for the correct molecular characterization Fy(a-b-) phenotype, using PCR-RFLP. Anti-T. gondii IgG antibodies were detected by ELISA. Chi-square, Fisher's exact tests were used to compare the proportions. OT was present in 22.9% (n = 132) and absent in 77.1% (n = 444) of patients. The frequencies of anti-T. gondii IgG antibodies were higher in OT (127/132, 96.2%) than those without this disease (321/444, 72.3%) (p < .0001). None of the Duffy antigens or phenotypes were associated with T. gondii infection (χ2: 2.222, GL: 3, p = .5276) as well as the risk of OT (χ2: 0.771, GL: 3, p = .8566). Duffy blood group system phenotypes and their antigens do not constitute risk factors for infection by T. gondii infection and the development of OT., (Copyright © 2020 Elsevier B.V. All rights reserved.)

Objectives: This study aimed to evaluate the reactivity and the titers of commercial anti-A and anti-A,B antisera in the detection of A weak antigen expression in human red blood cells., Background: Commercial monoclonal antisera for ABO phenotyping are useful reagents allowing the identification of the four main ABO phenotypes (A, B, AB, and O). However, the reactivity of these commercial reagents can not be evident when the A or B antigens are weakly expressed, and these antisera have low titers., Methods/materials: Six samples from blood donors and five samples from patients with ABO forward and reverse discrepant phenotyping were evaluated. The ABO phenotyping was carried out with different commercial monoclonal anti-A and anti-A,B antisera under different temperatures, using test tubes and gel column agglutination., Results: Monoclonal anti-A antisera with titers less than 256 and anti-A,B with titers less than 128 failed to detect the weak expression of A antigen in 73% and 67% of the A weak phenotypes, respectively. Titres equal to or higher than 2048 (anti-A) and 1024 (anti-A,B) showed better reactivity, independent of the cell clone., Conclusion: Our data indicate that anti-A and anti-A,B antisera with high titers give better reactivity with red blood cells carrying A weak antigen expression., (Copyright © 2020 Elsevier Ltd. All rights reserved.)

Objective: To determine the presence of the 7-bp deletion c.169+50delTAAACAG in intron 2 of Superoxide Dismutase-1 gene in keratoconic patients from the State of São Paulo, Brazil, which promotes splicing variations, resulting in non-functional Superoxide Dismutase-1 antioxidant proteins, which may damage the corneal structure., Results: A group of 35 keratoconic patients, from whom 35 peripheral blood samples and 58 samples of corneal fragments were evaluated, and a control group of 89 individuals, from whom 41 blood samples and 149 samples of corneal fragments were collected. After the amplification of DNA fragments by polymerase chain reaction, mutational screening analysis was performed by enzymatic digestion, followed by direct sequencing. The absence of the 7-bp c.169+50delTAAACAG mutation in intron 2 of Superoxide Dismutase-1 gene was detected in the analyzed subjects of the 2 groups, both in the cornea and peripheral blood samples. Then, according to our results, there is no involvement of c.169+50delTAAACAG deletion in the pathogenesis of keratoconus in this population, once it was not detected. But we emphasize that studies involving this deletion must be continued in an attempt to elucidate this issue.

The protozoan parasite Toxoplasma gondii can infect virtually all warm-blooded animals worldwide but little is known of its infection in the endangered giant anteaters (Myrmecophaga tridactyla). The present study found antibodies to T. gondii in 13 of 23 free-living M. tridactyla from the northwest region of São Paulo state, Brazil, by the Modified Agglutination Test (MAT, cut-off titer 1:25). Unfrozen tissues of seven M. tridactyla were bioassayed in mice and viable T. gondii (strain designated TgMytrBrSP1) isolated from one seropositive giant anteater. To our knowledge, this is a new host record for T. gondii. Genotyping using PCR-RFLP revealed the Brazilian clonal Type BrIII genotype, and a unique non-archetypal genotype was revealed by microsatellite analysis., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2020 Elsevier B.V. All rights reserved.)

Ocular toxoplasmosis is one of the most common complications caused by the infection with the parasite Toxoplasma gondii . The risk of developing eye lesions and impaired vision is considered higher in Brazil than other countries. The clinical diagnosis is difficult and the use of sensitive and specific laboratorial methods can aid to the correct diagnosis of this infection. We compared serological methods ELISA and ELFA, and molecular cPCR, Nested PCR and qPCR for the diagnosis of T. gondii infection in groups of patients clinically evaluated with ocular diseases non-toxoplasma related (G1 = 185) and with lesions caused by toxoplasmosis (G2 = 164) in an Ophthalmology clinic in Brazil. Results were compared by the Kappa index, and sensitivity (S), specificity (E), positive predictive value (PPV), and negative (NPV) were calculated. Serologic methods were in agreement with ELISA more sensitive and ELFA more specific to characterize the acute and chronic infections while molecular methods were discrepant where qPCR presented higher sensitivity, however, lower specificity when compared to cPCR and Nested PCR., (Copyright © 2020 Murata, Previato, Frederico, Barbosa, Nakashima, Faria, Silveira Carvalho, Meira Strejevitch, Pereira-Chioccola, Castiglioni, de Mattos, Siqueira and Brandão de Mattos.)

Background: Toxoplasma gondii infects millions of individuals worldwide. This protozoan is food and water-borne transmitted but blood transfusion and organ transplantation constitute alternative forms for transmission. However, the influence of IgG anti- T. gondii antibodies in molecular analysis carried out in peripheral blood still remain unclear. This study aimed to investigate the serum IgG anti- T. gondii antibody concentrations correlate Nested PCR results in blood donors. Methods: 750 blood donors were enrolled. IgM and IgG anti- T. gondii antibodies were assessed by ELISA (DiaSorin, Italy). Nested PCR was performed with primers JW62/JW63 (288 bp) and B22/B23 (115 bp) of the T. gondii B1 gene. The mean values of IgG concentration were compared for PCR positive and PCR Negative blood donors using the t -test or Mann-Whitney according to the normal distribution ( p -value ≤ 0.05). Results: 361 (48.1%) blood donors presented positive serology as follow: IgM + /IgG - : 5 (0.6%); IgM + /IgG + : 21 (2.8%); IgM - /IgG + : 335 (44.7%) and 389 (51.9%), negative serology. From 353 blood donors with positive serology tested, the Nested PCR was positive in 38 (10.8%) and negative in 315 (89.2%). There were no differences statistically significant between the mean values of serum IgG anti- T. gondii antibody concentrations and the Nested PCR results. Conclusions: In conclusion, our data show that variations in the serum IgG anti- T. gondii antibody concentrations do not correlate T. gondii parasitemia detected by Nested PCR in chronically infected healthy blood donors., (Copyright © 2020 Nakashima, Pardo, Miola, Murata, Paduan, Longo, Brandão de Mattos, Pereira-Chioccola, Ricci and de Mattos.)

Human platelet antigen (HPA) polymorphisms are considered to be a risk factor for cardiac and vascular diseases, but the role of HPA in chronic Chagas disease cardiomyopathy (CCC) is not available. Therefore, the aim of this study was to investigate the association of HPA polymorphisms, HPA-1, HPA-2, HPA-3, HPA-5 and HPA-15, in the severity of left ventricular systolic dysfunction (LVSD) in CCC patients. For this, 229 CCC patients were separated into three groups: without LVSD, mild/moderate LVSD and severe LVSD. PCR-SSP was performed for HPA genotyping and the risk was assessed using SNPStats software. HPA-1 allele and genotype frequencies were lower in mild/moderate LVSD patients compared to other groups, without statistical significance. After stratified analyzes, the HPA-3a/3b genotype frequency was lower in women with severe LVSD compared to those without LVSD (OR:0.29; 95% CI: 0.10-0.84). In conclusion, HPA-3 variant could be a protection factor for CCC in the female patients.

Twin hematopoietic chimera in humans is a phenomenon that was discovered accidentally and the prevalence of which remains unclear. The resolution of chimera cases requires studying family medical records, data analysis, and investigations of hematopoietic cells and cells from other tissues. The interactions among ABO, Lewis, and secretor histo-blood group systems are explored to resolve cases of hematopoietic chimera. Here we report a rare case of hematopoietic chimera where twins present a mixed field reaction in the ABO, Rh, and Kidd red blood cell phenotyping. Using red blood cells separated from the mixed field as well as molecular approaches and investigations of family members, we identify inconsistent genotypes with the Mendelian inheritance pattern when comparing the peripheral blood with the buccal epithelium of the male twin and his twin sister. Analysis of the ABO, Lewis, and secretor phenotypes, and genomic DNA from buccal epithelium showed the genotypes ABO * A1.01 /ABO* B.01 and FUT2 * 01N.02 / FUT2 * 01N.02 in the male twin and the genotypes ABO * O.01.01 / ABO * O.01.02 and FUT2 * 01 / FUT2 * 01 in the female twin. The results of the HLA-DRB1 genotyping showed inconsistency between the male and his twin sister. We conclude that the serological analyses combined with molecular approaches used in this study are good tools to resolve cases of hematopoietic chimera., Competing Interests: The authors have no conflicts of interest to disclose., (Copyright © 2019 by S. Karger AG, Basel.)

The interaction between the ABO, FUT2 and FUT3 genes results in the synthesis of different glycoconjugates profiles expressed in gastrointestinal tract. Moreover, the protozoan Toxoplasma gondii, which causes toxoplasmosis, utilizes this organ as an infection route. We analyzed the frequencies of the different glycoconjugate profiles which were determined by phenotyping ABO and genotyping the status secretor (FUT2; substitution G428A) and Lewis (FUT3; substitution T202C and C314T) histo-blood systems, assessed by PCR-RFLP and PCR-SSP, respectively. A total of 244 pregnant women (G1: Seropositive; G2: Seronegative) for IgG T. gondii antibodies were enrolled. IgG anti-T. gondii antibodies were determined by ELISA. G1 was composed of 158 (64.8%) sample and G2 by 86 (36.2%). The glycoconjugate profile was accessed in 151 seropositive and 85 seronegative samples by the combination of ABO and Lewis phenotyping as well as FUT2 and FUT3 genotyping. In G1, 36 (22.8%) presented the glycoconjugate profile ALe b , 5 (3.3%) A, 13 (8.6) BLe b , 1 (0.6%) B, 41 (27.1%) Le b , 13(8.6%) H, 38(25.2%) Le a and 4 (2.6%) Le c . G2 was composed of 13 (15.3%) of ALe b , 15 (17.6%) BLe b , 1 (1.2%) B, 42 (49,4%) Le b and 14 (16.5) Le a . H and Le c glycoconjugate profiles were not found in G2. The frequencies of the glycoconjugates profiles Le b (p = 0.001) and H (p = 0.005) were significantly different compared between G1 and G2. The glycoconjugate profile H inferred from the ABO phenotyping and FUT3 and FUT2 genotyping is associated with infection by T. gondii in pregnant women and the Le b profile appears to protect the infection by this parasite., (Copyright © 2019. Published by Elsevier B.V.)

Background: Malaria clinical outcomes vary by erythrocyte characteristics, including ABO blood group, but the effect of ABO blood group on asymptomatic, uncomplicated and placental Plasmodium falciparum (P. falciparum) infection remains unclear. We explored effects of ABO blood group on asymptomatic, uncomplicated and placental falciparum infection in the published literature., Methods: A systematic review and meta-analysis was performed using the preferred reporting items for systematic reviews and meta-analyses guidelines. Articles in Pubmed, Embase, Web of Science, CINAHL and Cochrane Library published before February 04, 2017 were searched without restriction. Studies were included if they reported P. falciparum infection incidence or prevalence, stratified by ABO blood group., Results: Of 1923 articles obtained from the five databases (Embase = 728, PubMed = 620, Web of Science = 549, CINAHL = 14, Cochrane Library = 12), 42 met criteria for systematic review and 37 for meta-analysis. Most studies (n = 30) were cross-sectional, seven were prospective cohort, and five were case-control studies. Meta-analysis showed similar odds of uncomplicated P. falciparum infection among individuals with blood group A (summary odds ratio [OR] 0.96, 15 studies), B (OR 0.89, 15 studies), AB (OR 0.85, 10 studies) and non-O (OR 0.95, 17 studies) as compared to those with blood group O. Meta-analysis of four cohort studies also showed similar risk of uncomplicated P. falciparum infection among individuals with blood group non-O and those with blood group O (summary relative risk [RR] 1.03). Meta-analysis of six studies showed similar odds of asymptomatic P. falciparum infection among individuals with blood group A (OR 1.05), B (OR 1.03), AB (OR 1.23), and non-O (OR 1.07) when compared to those with blood group O. However, odds of active placental P. falciparum infection was significantly lower in primiparous women with non-O blood groups (OR 0.46, 95% confidence interval [CI] 0.23 - 0.69, I 2 0.0%, three studies), particularly in those with blood group A (OR 0.41, 95% CI 0.003 - 0.82, I 2 1.4%, four studies) than those with blood group O., Conclusions: This study suggests that ABO blood group may not affect susceptibility to asymptomatic and/or uncomplicated P. falciparum infection. However, blood group O primiparous women appear to be more susceptible to active placental P. falciparum infection.

Objectives: We aimed to report the first 54 cases of pregnant women infected by Zika virus (ZIKV) and their virologic and clinical outcomes, as well as their newborns' outcomes, in 2016, after the emergence of ZIKV in dengue-endemic areas of São Paulo, Brazil., Methods: This descriptive study was performed from February to October 2016 on 54 quantitative real-time PCR ZIKV-positive pregnant women identified by the public health authority of São José do Rio Preto, São Paulo, Brazil. The women were followed and had clinical and epidemiologic data collected before and after birth. Adverse outcomes in newborns were analysed and reported. Urine or blood samples from newborns were collected to identify ZIKV infection by reverse transcription PCR (RT-PCR)., Results: A total of 216 acute Zika-suspected pregnant women were identified, and 54 had the diagnosis confirmed by RT-PCR. None of the 54 women miscarried. Among the 54 newborns, 15 exhibited adverse outcomes at birth. The highest number of ZIKV infections occurred during the second and third trimesters. No cases of microcephaly were reported, though a broad clinical spectrum of outcomes, including lenticulostriate vasculopathy, subependymal cysts, and auditory and ophthalmologic disorders, were identified. ZIKV RNA was detected in 18 of 51 newborns tested and in eight of 15 newborns with adverse outcomes., Conclusions: Although other studies have associated many newborn outcomes to ZIKV infection during pregnancy, these same adverse outcomes were rare or nonexistent in this study. The clinical presentation the newborns we studied was mild compared to other reports, suggesting that there is significant heterogeneity in congenital Zika infection., (Copyright © 2017 European Society of Clinical Microbiology and Infectious Diseases. Published by Elsevier Ltd. All rights reserved.)

CC chemokine receptor type 5 (CCR5) is a chemokine receptor that influences the immune response to infectious and parasitic diseases. This study aimed to determine whether the CCR5Δ32 and CCR5 59029 A/G polymorphisms are associated with the development of ocular toxoplasmosis in humans. Patients with positive serology for Toxoplasma gondii were analyzed and grouped as 'with ocular toxoplasmosis' (G1: n=160) or 'without ocular toxoplasmosis' (G2: n=160). A control group (G3) consisted of 160 individuals with negative serology. The characterization of the CCR5Δ32 and CCR5 59029 A/G polymorphisms was by PCR and by PCR-RFLP, respectively. The difference between the groups with respect to the mean age (G1: mean age: 47.3, SD±19.3, median: 46 [range: 18-95]; G2: mean age: 61.3, SD±13.7, median: 61 [range: 21-87]; G3: mean age: 38.8, SD±17.9, median: 34 [range: 18-80]) was statistically significant (G1 vs.G2: p-value <0.0001; t=7.21; DF=318; G1 vs.G3: p-value <0.0001; t=4.32; DF=318; G2 vs. G3: p-value <0.0001; t=9.62; DF=318). The Nagelkerke r 2 value was 0.040. There were statistically significant differences for the CCR5/CCR5 (p-value=0.008; OR=0.261), AA (p-value=0.007; OR=2.974) and AG genotypes (p-value=0.018; OR=2.447) between G1 and G2. Individuals with the CCR5/CCR5 genotype and simultaneously the CCR5-59029 AA or AG genotypes have a greater risk of developing ocular toxoplasmosis (4% greater), which may be associated with a strong and persistent inflammatory response in ocular tissue., (Copyright © 2017 Elsevier B.V. All rights reserved.)

Symptomatic forms of toxoplasmosis are a serious public health problem and occur in around 10-20% of the infected people. Aiming to improve the molecular diagnosis of symptomatic toxoplasmosis in Brazilian patients, this study evaluated the performance of real time PCR testing two primer sets (B1 and REP-529) in detecting Toxoplasma gondii DNA. The methodology was assayed in 807 clinical samples with known clinical diagnosis, ELISA, and conventional PCR results in a 9-year period. All samples were from patients with clinical suspicion of several features of toxoplasmosis. According to the minimum detection limit curve (in C T ), REP-529 had greater sensitivity to detect T. gondii DNA than B1. Both primer sets were retrospectively evaluated using 515 DNA from different clinical samples. The 122 patients without toxoplasmosis provided high specificity (REP-529, 99.2% and B1, 100%). From the 393 samples with positive ELISA, 146 had clinical diagnosis of toxoplasmosis and positive conventional PCR. REP-529 and B1 sensitivities were 95.9% and 83.6%, respectively. Comparison of REP-529 and B1 performances was further analyzed prospectively in 292 samples. Thus, from a total of 807 DNA analyzed, 217 (26.89%) had positive PCR with, at least one primer set and symptomatic toxoplasmosis confirmed by clinical diagnosis. REP-529 was positive in 97.23%, whereas B1 amplified only 78.80%. After comparing several samples in a Brazilian referral laboratory, this study concluded that REP-529 primer set had better performance than B1 one. These observations were based after using cases with defined clinical diagnosis, ELISA, and conventional PCR., (Copyright © 2017 Sociedade Brasileira de Infectologia. Published by Elsevier Editora Ltda. All rights reserved.)

This study evaluated levels for mRNA expression of 7 cytokines in ocular toxoplasmosis. Peripheral blood mononuclear cells (PBMC) of patients with ocular toxoplasmosis (OT Group, n = 23) and chronic toxoplasmosis individuals (CHR Group, n = 9) were isolated and stimulated in vitro with T. gondii antigen. Negative controls (NC) were constituted of 7 PBMC samples from individuals seronegative for toxoplasmosis. mRNA expression for cytokines was determined by qPCR. Results showed a significant increase in mRNA levels from antigen stimulated PBMCs derived from OT Group for expressing IL-6 (at P < .005 and P < .0005 for CHR and NC groups, respectively), IL-10 (at P < .0005 and P < .005 for CHR and NC groups, respectively) and TGF-β (at P < .005) for NC group. mRNA levels for TNF-α and IL-12 were also upregulated in patients with OT compared to CHR and NC individuals, although without statistical significance. Additionally, mRNA levels for IL-27 and IFN-γ in PBMC of patients with OT were upregulated in comparison with NC individuals. Differences between OT and NC groups were statistically significant at P < .05 and P < .0005, respectively., (© 2017 John Wiley & Sons Ltd.)

Toxoplasmosis during pregnancy can have severe consequences. The use of sensitive and specific serological and molecular methods is extremely important for the correct diagnosis of the disease. We compared the ELISA and ELFA serological methods, conventional PCR (cPCR), Nested PCR and quantitative PCR (qPCR) in the diagnosis of Toxoplasma gondii infection in pregnant women without clinical suspicion of toxoplasmosis (G1=94) and with clinical suspicion of toxoplasmosis (G2=53). The results were compared using the Kappa index, and the sensitivity, specificity, positive predictive value and negative predictive value were calculated. The results of the serological methods showed concordance between the ELISA and ELFA methods even though ELFA identified more positive cases than ELISA. Molecular methods were discrepant with cPCR using B22/23 primers having greater sensitivity and lower specificity compared to the other molecular methods., (Copyright © 2017 Elsevier Inc. All rights reserved.)

Helicobacter pylori infect millions of people around the world. It occupies a niche in the human gastrointestinal tract characterized by high expression of a repertoire of carbohydrates. ABO and Lewis histo-blood group systems are controlled by genes coding for functional glycosyltransferases which synthesize great diversity of related fucosylated carbohydrate in different tissues, including gastrointestinal mucosa, and exocrine secretions. The structural diversity of histo-blood group carbohydrates is highly complex and depends on epistatic interactions among gene-encoding glycosyltransferases. The histo-blood group glycosyltransferases act in the glycosylation of proteins and lipids in the human gastrointestinal tract allowing the expression of a variety of potential receptors in which H. pylori can adhere. These oligosaccharide molecules are part of the gastrointestinal repertoire of carbohydrates which act as potential receptors for microorganisms, including H. pylori. This Gram-negative bacillus is one of the main causes of the gastrointestinal diseases such as chronic active gastritis, peptic ulcer, and cancer of stomach. Previous reports showed that some H. pylori strains use carbohydrates as receptors to adhere to the gastric and duodenal mucosa. Since some histo-blood group carbohydrates are highly expressed in one but not in others histo-blood group phenotypes it has pointed out that quantitative differences among them influence the susceptibility to diseases caused by H. pylori. Additionally, some experiments using animal model are helping us to understand how this bacillus explore histo-blood group carbohydrates as potential receptors, offering possibility to explore new strategies of management of infection, disease treatment, and prevention. This text highlights the importance of structural diversity of ABO and Lewis histo-blood group carbohydrates as facilitators for H. pylori infection., (Copyright © 2017 Elsevier B.V. All rights reserved.)

Background: In Brazil, there have been no previous studies of Toxoplasma gondii infection in sickle cell anemia patients and carriers of severe forms of beta-thalassemia. This study evaluated T. gondii infection in patients with beta-hemoglobinopathies., Methods: A total of 158 samples, 77 (48.7%) men and 81 (51.3%) women, were evaluated. Three groups were formed: G1 (85 patients with sickle cell disease); G2 (11 patients with homozygous beta-thalassemia; G3 (62 patients with heterozygous beta-thalassemia). ELISA was employed to identify anti-T. gondii IgM and IgG antibodies, and molecular analysis was performed to determine beta-hemoglobin mutations. Fisher's exact test was used to compare frequencies of anti-T. gondii IgM and IgG antibodies in respect to gender and age., Results: Anti-T. gondii IgG antibodies were found in 43.5% of individuals in G1, 18.1% in G2 and 50% in G3. All samples from G1 and G2 were seronegative for anti-T. gondii IgM antibodies, but 3.2% from G3 were seropositive. Considering anti-T. gondii IgG antibodies, no statistical significant differences were found between these groups nor in seroprevalence between genders within each group. Despite this, comparisons of the mean ages between G1, G2 and G3 were statistically significant (G2 vs. G1: p value = 0.0001; G3 vs. G1: p-value <0.0001; G3 vs. G2: p-value = 0.0001)., Conclusion: A comparison by age of patients with sickle cell anemia showed a trend of lower risk of infection among younger individuals. Therefore, this study demonstrates that T. gondii infection occurs in patients with beta-thalassemia and sickle cell anemia in Brazil as seen by the presence of anti-T. gondii IgM and IgG antibodies.

The aim of this study was to investigate the plasma levels of the CCL3 and CCL4 chemokines in patients with the cardiac and digestive clinical forms of chronic Chagas disease and in cardiac patients with and without left ventricular systolic dysfunction (LVSD). Plasma samples from 75 patients were evaluated by enzyme-linked immunosorbent assay (ELISA) to confirm infection by T. cruzi. Plasma levels of the CCL3 and CCL4 chemokines were measured using Milliplex® MAP assay (Millipore). There were no significant differences in the levels of CCL3 and CCL4 between patients with the digestive and cardiac clinical forms of Chagas disease. Moreover, no significant differences were found between patients without LVSD and those with LVSD. Higher CCL3 and CCL4 plasma levels were found in patients with LVSD compared to those with the digestive form of the disease. The CCL3 and CCL4 chemokines might not be involved in differential susceptibility to the digestive and cardiac clinical forms of chronic Chagas disease, and it seems they do not influence the development of LVSD., (Copyright © 2016 Elsevier Ltd. All rights reserved.)

The aim of this study was to investigate possible associations between genetic polymorphisms of IL17A G197A (rs2275913) and IL17F T7488C (rs763780) with Chagas Disease (CD) and/or the severity of left ventricular systolic dysfunction (LVSD) in patients with chronic Chagas cardiomyopathy (CCC). The study with 260 patients and 150 controls was conducted in the South and Southeast regions of Brazil. The genotyping was performed by PCR-RFLP. The A allele and A/A genotype of IL17A were significantly increased in patients and their subgroups (patients with CCC; patients with CCC and LVSD; and patients with CCC and severe LVSD) when compared to the control group. The analysis according to the gender showed that the A/A genotype of IL17A was more frequent in female with LVSD and mild to moderate LVSD and also in male patients with LVSD. The frequency of IL17F T/C genotype was higher in male patients with CCC and severe LVSD and in female with mild to moderate LVSD. The results suggest the possible involvement of the polymorphisms of IL17A and IL17F in the susceptibility to chronic Chagas disease and in development and progression of cardiomyopathy., Competing Interests: The authors declare that there is no conflict of interests involved.

Zika virus (ZIKV) infection acquired during pregnancy is associated with congenital microcephaly. We describe 2 cases of ZIKV infection in women in their 36th week of pregnancy whose fetuses had preserved head circumference at birth and findings of subependymal cysts and lenticulostriate vasculopathy in postnatal imaging. These represent the first signs of congenital brain injury acquired due to ZIKV in the third trimester., (© The Author 2016. Published by Oxford University Press for the Infectious Diseases Society of America. All rights reserved. For permissions, e-mail journals.permissions@oup.com.)

The objective of this study was to investigate the influence of the genes encoding the KIR receptors and their HLA ligands in the susceptibility of ocular toxoplasmosis. A total of 297 patients serologically-diagnosed with toxoplasmosis were selected and stratified according to the presence (n = 148) or absence (n = 149) of ocular scars/lesions due to toxoplasmosis. The group of patients with scars/lesions was further subdivided into two groups according to the type of ocular manifestation observed: primary (n = 120) or recurrent (n = 28). Genotyping was performed by PCR-SSOP. Statistical analyses were conducted using the Chi-square test, and odds ratio with a 95% confidence interval was also calculated to evaluate the risk association. The activating KIR3DS1 gene was associated with increased susceptibility for ocular toxoplasmosis. The activating KIR together with their HLA ligands (KIR3DS1-Bw4-80Ile and KIR2DS1 + /C2 ++ KIR3DS1 + /Bw4-80Ile + ) were associated with increased susceptibility for ocular toxoplasmosis and its clinical manifestations. KIR-HLA inhibitory pairs -KIR2DL3/2DL3-C1/C1 and KIR2DL3/2DL3-C1- were associated with decreased susceptibility for ocular toxoplasmosis and its clinical forms, while the KIR3DS1 - /KIR3DL1 + /Bw4-80Ile + combination was associated as a protective factor against the development of ocular toxoplasmosis and, in particular, against recurrent manifestations. Our data demonstrate that activating and inhibitory KIR genes may influence the development of ocular toxoplasmosis.

Chagas disease is an infection caused by the protozoan Trypanosoma cruzi. The clinical manifestations result from the chronic forms of the disease: indeterminate, cardiac, digestive or mixed. The pathogenesis of this disease is related to the genetic variability of both the parasite and the host with polymorphisms of genes involved in immune response possibly being involved in the variable clinical course. Cytokines play a key role in regulating immune response, in particular chemokines exert a crucial role in the control of leukocyte migration during the host's response to infectious processes. Furthermore, inflammatory cytokines and chemokines have been implicated in the generation of inflammatory infiltrates and tissue damage. The involvement of the CC Chemokine Receptor 5 (CCR5) in leukocyte migration to sites of inflammation has been elucidated and this receptor has been investigated in Chagas disease. Here we review the role of CCR5 in T. cruzi infection as well as its importance in the pathogenesis of the Chagas disease., (Copyright © 2016 Elsevier B.V. All rights reserved.)

Chagas disease, caused by Trypanosoma cruzi, can affect the heart, esophagus and colon. The reasons that some patients develop different clinical forms or remain asymptomatic are unclear. It is believed that tissue immunogenetic markers influence the tropism of T. cruzi for different organs. ABO, Secretor and Lewis histo-blood group systems express a variety of tissue carbohydrate antigens that influence the susceptibility or resistance to diseases. This study aimed to examine the association of ABO, secretor and Lewis histo-blood systems with the clinical forms of Chagas disease. We enrolled 339 consecutive adult patients with chronic Chagas disease regardless of gender (cardiomyopathy: n=154; megaesophagus: n=119; megacolon: n=66). The control group was composed by 488 healthy blood donors. IgG anti-T. cruzi antibodies were detected by ELISA. ABO and Lewis phenotypes were defined by standard hemagglutination tests. Secretor (FUT2) and Lewis (FUT3) genotypes, determined by Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), were used to infer the correct histo-blood group antigens expressed in the gastrointestinal tract. The proportions between groups were compared using the χ2 test with Yates correction and Fisher's exact test and the Odds Ratio (OR) and 95% Confidence Interval (95% CI) were calculated. An alpha error of 5% was considered significant with p-values <0.05 being corrected for multiple comparisons (pc). No statistically significant differences were found for the ABO (X 2 : 2.635; p-value=0.451), Secretor (X 2 : 0.056; p-value=0.812) or Lewis (X 2 : 2.092; p-value=0.351) histo-blood group phenotypes between patients and controls. However, B plus AB Secretor phenotypes were prevalent in pooled data from megaesophagus and megacolon patients (OR: 5.381; 95% CI: 1.230-23.529; p-value=0.011; pc=0.022) in comparison to A plus O Secretor phenotypes. The tissue antigen variability resulting from the combined action of ABO and Secretor histo-blood systems is associated with the digestive forms of Chagas disease., (Copyright © 2016 Elsevier B.V. All rights reserved.)

ABO, H, secretor and Lewis histo-blood system genes control the expression of part of the carbohydrate repertoire present in areas of the body occupied by microorganisms. These carbohydrates, besides having great structural diversity, act as potential receptors for pathogenic and non-pathogenic microorganisms influencing susceptibility and resistance to infection and illness. Despite the knowledge of some structural variability of these carbohydrate antigens and their polymorphic levels of expression in tissue and exocrine secretions, little is known about their biological importance and potential applications in medicine. This review highlights the structural diversity, the biological importance and potential applications of ABO, H, Lewis and secretor histo-blood carbohydrates., (Copyright © 2016 Associação Brasileira de Hematologia, Hemoterapia e Terapia Celular. Published by Elsevier Editora Ltda. All rights reserved.)

This study investigated whether polymorphisms of the MICA (major histocompatibility complex class I chain-related gene A) gene are associated with eye lesions due to Toxoplasma gondii infection in a group of immunocompetent patients from southeastern Brazil. The study enrolled 297 patients with serological diagnosis of toxoplasmosis. Participants were classified into two distinct groups after conducting fundoscopic exams according to the presence (n = 148) or absence (n = 149) of ocular scars/lesions due to toxoplasmosis. The group of patients with scars/lesions was further subdivided into two groups according to the type of the ocular manifestation observed: primary (n = 120) or recurrent (n = 28). Genotyping of the MICA and HLA alleles was performed by the polymerase chain reaction-sequence specific oligonucleotide technique (PCR-SSO; One Lambda®) and the MICA-129 polymorphism (rs1051792) was identified by nested polymerase chain reaction (PCR-RFLP). Significant associations involving MICA polymorphisms were not found. Although the MICA*002~HLA-B*35 haplotype was associated with increased risk of developing ocular toxoplasmosis (P-value = 0.04; OR = 2.20; 95% CI = 1.05-4.60), and the MICA*008~HLA-C*07 haplotype was associated with protection against the development of manifestations of ocular toxoplasmosis (P-value = 0.009; OR: 0.44; 95% CI: 0.22-0.76), these associations were not statistically significant after adjusting for multiple comparisons. MICA polymorphisms do not appear to influence the development of ocular lesions in patients diagnosed with toxoplasmosis in this study population.

Background: Toxoplasmosis was recently included as a neglected disease by the Center for Disease Control. Ocular toxoplasmosis is one clinical presentation of congenital or acquired infection. The laboratory diagnosis is being used worldwide to support the clinical diagnosis and imaging. The aim of this study was to evaluate the use of serology and molecular methods to monitor acute OT in immunocompetent patients during treatment., Methods: Five immunocompetent patients were clinically diagnosed with acute OT. The clinical evaluation was performed by ophthalmologic examination using the Early Treatment Diabetic Retinopathy Study, best-corrected visual acuity, slit lamp biomicroscopy, fundoscopic examination with indirect binocular ophthalmoscopy color fundus photography, fluorescein angiography and spectral optical coherence tomography (OCT). Serology were performed by ELISA (IgA, IgM, IgG) and confirmed by ELFA (IgG, IgM). Molecular diagnoses were performed in peripheral blood by cPCR using the Toxoplasma gondii B1 gene as the marker. Follow-up exams were performed on day +15 and day +45., Results: Only five non-immunocompromised male patients completed the follow up and their data were used for analysis. The mean age was 41.2 ± 11.3 years (median: 35; range 31-54 years). All of them were positive for IgG antibodies but with different profiles for IgM and IgA, as well as PCR. For all patients the OCT exam showed active lesions with the inner retinal layers being abnormally hyper-reflective with full-thickness disorganization of the retinal reflective layers, which assumed a blurred reflective appearance and the retina was thickened., Conclusions: The presence of IgA and IgM confirmed the acute infection and thus was in agreement with the clinical evaluation. Our results show the adopted treatment modified the serological profile of IgM antibodies and the PCR results, but not the IgG and IgA antibodies and that imaging is a good tool to follow-up patients.

The clinical manifestations of chronic Chagas disease include the cardiac form of the disease and the digestive form. Not all the factors that act in the variable clinical course of this disease are known. This study investigated whether the CCR5Δ32 (rs333) and CCR5 59029 A/G (promoter region--rs1799987) polymorphisms of the CCR5 gene are associated with different clinical forms of chronic Chagas disease and with the severity of left ventricular systolic dysfunction in patients with chronic Chagas heart disease (CCHD). The antibodies anti-T. cruzi were identified by ELISA. PCR and PCR-RFLP were used to identify the CCR5Δ32 and CCR5 59029 A/G polymorphisms. The chi-square test was used to compare variables between groups. There was a higher frequency of the AA genotype in patients with CCHD compared with patients with the digestive form of the disease and the control group. The results also showed a high frequency of the AG genotype in patients with the digestive form of the disease compared to the other groups. The results of this study show that the CCR5Δ32 polymorphism does not seem to influence the different clinical manifestations of Chagas disease but there is involvement of the CCR5 59029 A/G polymorphism in susceptibility to the different forms of chronic Chagas disease. Besides, these polymorphisms do not influence left ventricular systolic dysfunction in patients with CCHD.