Publications by authors named "Luiz C De Mattos"

Background: Among the alleles of the ABO system, cisAB and B(A) are the most intriguing due to their ability to encode a glycosyltransferase that can synthesize both A and B antigens. This dual activity leads to the formation of the AB phenotype, even in the presence of the O allele; resolution is achieved by molecular analyses.

Case Presentation And Methods: We describe herein a Brazilian family in which the mother (M42.

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  • * Researchers used various methods, including DNA sequencing and bioinformatics tools, to analyze blood samples from a proband and relatives, identifying the specific p.Leu324Ser variant in the ABO gene.
  • * The findings reveal that this variant changes the glycosyltransferase's ability to synthesize more A antigens while producing fewer B antigens, ultimately resulting in an AB phenotype expression.
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  • Ocular toxoplasmosis (OT) is an eye condition caused by a parasite that leads to inflammation of the retina and choroid, affecting vision; genetic variations in cytokine genes may influence susceptibility to this disease.
  • A study categorized Brazilian participants with positive toxoplasmosis serology into two groups based on the presence or absence of OT, along with a control group without infection, to examine specific gene polymorphisms' roles.
  • Findings indicated that individuals with the C/C genotype of a particular gene variant were less likely to develop OT, suggesting that this genetic factor may offer protection against the condition in the studied population.
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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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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.

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Purpose: To identify inherited or acquired mutations in the and 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.

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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.

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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 infection and the ABO histo-blood group system, but the results are contradictory.

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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.

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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.

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  • - The study aimed to investigate the presence of a specific 7-bp deletion in the Superoxide Dismutase-1 gene among keratoconic patients in São Paulo, Brazil, as it could lead to splicing issues and potentially damaging antioxidant proteins.
  • - Researchers analyzed samples from 35 keratoconic patients and a control group of 89 individuals, conducting DNA amplification and mutational screening through various methods.
  • - The results showed that the deletion was absent in both groups' samples, indicating it likely does not play a role in causing keratoconus in this population, though further research on the deletion is still recommended.
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  • - The study investigates the relationship between Duffy blood group phenotypes and T. gondii infection in 576 patients, exploring whether Duffy antigens influence the invasion of the parasite.
  • - Results indicate that T. gondii infection was more common in patients with the disease (22.9% presence) and those with positive anti-T. gondii IgG antibodies compared to those without the infection; however, no significant association was found with Duffy phenotypes.
  • - Ultimately, the findings suggest that Duffy blood group phenotypes and their antigens do not increase the risk for T. gondii infection or the associated disease (OT).
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  • Ocular toxoplasmosis is a common infection that can lead to serious eye problems, particularly prevalent in Brazil.
  • The study compared various diagnostic methods (ELISA, ELFA, cPCR, Nested PCR, and qPCR) on patient groups with and without toxoplasmosis-related eye lesions.
  • Results showed that while ELISA was more sensitive and ELFA more specific for serological diagnosis, qPCR had higher sensitivity but lower specificity than the other molecular methods.
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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- antibodies in molecular analysis carried out in peripheral blood still remain unclear.

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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.

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