Familial lecithin-cholesterol acyltransferase deficiency: If so rare, why so frequent in the state of Piauí, northeastern Brazil?

Lecithin-cholesterol acyltransferase (LCAT), an enzyme that participates in lipoprotein metabolism, plays an important role in cholesterol homeostasis. Mutations in the gene can cause two rare genetic disorders: familial LCAT deficiency (FLD), which is characterized by corneal opacities, normocytic anemia, dyslipidemia, and proteinuria progressing to chronic renal failure, and fish-eye disease (FED), which causes dyslipidemia and progressive corneal opacities. Herein, we report six suspected cases of FLD in the backlands of Piauí, located in northeast Brazil.

Smartpath: a platform for teaching glomerulopathies using machine learning.

Background: With the emergence of the new coronavirus pandemic (COVID-19), distance learning, especially that mediated by information and digital communication technologies, has been adopted in all areas of knowledge and at all levels, including medical education. Imminently practical areas, such as pathology, have made traditional teaching based on conventional microscopy more flexible through the synergies of computational tools and image digitization, not only to improve teaching-learning but also to offer alternatives to repetitive and exhaustive histopathological analyzes. In this context, machine learning algorithms capable of recognizing histological patterns in kidney biopsy slides have been developed and validated with a view to building computational models capable of accurately identifying renal pathologies.

pHLA3D: Updating the database of predicted three-dimensional structures of HLA with HLA-DR, HLA-DQ and HLA-DP molecules.

To improve the availability of three-dimensional (3D) structures of HLA molecules, we created the pHLA3D database. In its first version, we modeled and published 106 3D structures of HLA class I molecules from the HLA-A, HLA-B, and HLA-C loci. This paper presents an update of this database, providing more 127 3D structures of HLA class II molecules (41 DR, 42 DQ, and 44 DP), predicted via homology modeling with MODELLER and SWISS-MODEL.

Novel recombinant multiepitope proteins for the detection of anti-Cryptococcus antibodies.

Aim: To produce and test recombinant multiepitope proteins as an alternative assay for the serological diagnosis of cryptococcosis.

Materials & Methods: Previously, synthetic peptides were used to detect anti-Cryptococcus antibodies, and in silico analyses showed that the union of peptides would improve the results. Here, the coding sequences of these peptides were assembled into synthetic genes.

EpViX: A cloud-based tool for epitope reactivity analysis and epitope virtual crossmatching to identify low immunologic risk donors for sensitized recipients.

One of the challenges facing solid organ transplantation programs globally is the identification of low immunological risk donors for sensitized recipients by HLA allele genotype. Because recognition of donor HLA alleles by host antibodies is at the core of organ rejection, the objective of this work was to develop a new version of the EpHLA software, named EpViX, which uses an HLAMatchmaker algorithm and performs automated epitope virtual crossmatching at the initiation of the organ donation process. EpViX is a free, web-based application developed for use over the internet on a tablet, smartphone or computer.

Immunoreactivity of synthetic peptides derived from proteins of Cryptococcus gattii.

Aim: To determine the immunoreactivity of synthetic Cryptococcus-derived peptides.

Materials & Methods: A total of 63 B-cell epitopes from previously identified Cryptococcus gattii immunoreactive proteins were synthesized and evaluated as antigens in ELISAs. The peptides were first evaluated for their ability to react against sera from immunocompetent subjects carrying cryptococcal meningitis.

Altered dynamics of a lipid raft associated protein in a kidney model of Fabry disease.

Accumulation of globotriaosylceramide (Gb3) and other neutral glycosphingolipids with galactosyl residues is the hallmark of Fabry disease, a lysosomal storage disorder caused by deficiency of the enzyme alpha-galactosidase A (α-gal A). These lipids are incorporated into the plasma membrane and intracellular membranes, with a preference for lipid rafts. Disruption of raft mediated cell processes is implicated in the pathogenesis of several human diseases, but little is known about the effects of the accumulation of glycosphingolipids on raft dynamics in the context of Fabry disease.

Immunoproteomics and immunoinformatics analysis of Cryptococcus gattii: novel candidate antigens for diagnosis.

Aim: To identify immunoreactive proteins of Cryptococcus gattii genotype VGII and their B-cell epitopes.

Materials & Methods: We combined 2D gel electrophoresis, immunoblotting and mass spectrometry to identify immunoreactive proteins from four strains of C. gattii genotype VGII (CG01, CG02, CG03 and R265).

EpHLA software: a timesaving and accurate tool for improving identification of acceptable mismatches for clinical purposes.

Unlabelled: The HLAMatchmaker algorithm, which allows the identification of “safe” acceptable mismatches (AMMs) for recipients of solid organ and cell allografts, is rarely used in part due to the difficulty in using it in the current Excel format. The automation of this algorithm may universalize its use to benefit the allocation of allografts. Recently, we have developed a new software called EpHLA, which is the first computer program automating the use of the HLAMatchmaker algorithm.

LabSystem Gen, a tool for structuring and analyzing genetic data in histocompatibility laboratories.

Analysis of HLA data involves queries on web portals, whose search parameters are data stored in laboratories' databases. In order to automate these queries, one approach is to structure laboratory data into a database and to develop bioinformatic tools to perform the data mapping. In this context, we developed the LabSystem Gen tool that allows users to create a Laboratory Information System, without programming.

EpHLA: an innovative and user-friendly software automating the HLAMatchmaker algorithm for antibody analysis.

Unlabelled: The global challenge for solid organ transplantation programs is to distribute organs to the highly sensitized recipients. The purpose of this work is to describe and test the functionality of the EpHLA software, a program that automates the analysis of acceptable and unacceptable HLA epitopes on the basis of the HLAMatchmaker algorithm. HLAMatchmaker considers small configurations of polymorphic residues referred to as eplets as essential components of HLA-epitopes.

Expression of the zinc transporters genes and metallothionein in obese women.

Research has investigated the participation of zinc transport proteins and metallothionein in the metabolism of this mineral. However, studies about the genetic expression of these proteins in obese patients are scarce. The study determined the expression of zinc transporter protein codifying genes (ZnT-1, Zip-1 and Zip-3) and of metallothionein in 55 obese women, aged between 20 and 56 years.

Erythrocytary zinc and the infant growth profile in northeast Brazil.

This study evaluated nutritional status linked to zinc levels in 239 randomly selected children at crèches in Teresina, Brazil, aged 3 to 6. Blood samples were collected after fasting of 10 h. Erythrocytary zinc levels were determined through flame atomic absorption spectrophotometry.

Urinary excretion of zinc and metabolic control of patients with diabetes type 2.

The objective of this study was to assess urinary excretion of zinc and evaluation parameters of metabolic control in type 2 diabetic patients. Thirty-one type 2 diabetic patients, of both genders, with 5.8 +/- 5.

Zinc nutritional status in adolescents with Down syndrome.

Studies have evidenced that zinc metabolism is altered in presence of Down syndrome, and zinc seems to have a relationship with the metabolic alterations usually present in this syndrome. In this work, the Zn-related nutritional status of adolescents with Down syndrome was evaluated by means of biochemical parameters and diet. A case-control study was performed in a group of adolescents with Down syndrome (n = 30) and a control group (n = 32), of both sexes, aged 10 to 19 years.

Assessment of chemiluminescence and PCR effectiveness in relation to conventional serological tests for the diagnosis of Chagas' disease.

While testing 414 sera for the diagnosis of Chagas' disease, the conventional reactions of indirect hemagglutination, indirect immunofluorescence and the immunosorbent assay showed a sensitivity of 95.7%, 100% and 98.2% and a specificity of 98%, 98% and 96.

Comparison of paraffin-embedded skin biopsies from different anatomical regions as sampling methods for detection of Leishmania infection in dogs using histological, immunohistochemical and PCR methods.

Background: We compared skin biopsy samples from different anatomical regions for detecting Leishmania in dogs, using histological (HE), immunohistochemical (IHC) and polymerase chain reaction (PCR) techniques.

Results: The sensitivity was 82.8 percent for PCR, 62.

Dengue viruses activity in Piauí, Brazil.

The present paper reports a laboratory investigation performed between the years of 2000 and 2002 to study a virological surveillance program introduced in the state of Piauí to support an epidemiological survey of the disease. Dengue virus type 3 (DENV-3) existence in the state was detected in May 2002 when a high number of dengue cases due to DENV-1 and DENV-2 were reported. An assessment on the population knowledge about the disease and its transmission showed that almost 50% of the population were still unaware of the epidemiological features of dengue.

[Association of humans leucocitary antigens with humoral nonresponsive to hepatitis B vaccine in chronic hemodialysis patients].

Vaccination using surface antigen from hepatitis B virus has not been successfully responded by hemodialysis patients. The present study was aimed at assessing a possible relationship between human leukocyte antigens and the low production of protective antibodies (anti-HbS) against the surface antigen from hepatitis B by patients with chronic renal failure submitted to hemodialysis programs. The antigens HLA-DR and HLA-DQ were identified in 76 hemodialysis patients through classic microlymphotoxicity.