Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment

Mucopolysaccharidoses (MPS) are rare genetic diseases caused by the deficiency of one of the lysosomal enzymes involved in the glycosaminoglycan (GAG) breakdown pathway. This metabolic block leads to the accumulation of GAG in various organs and tissues of the affected patients, resulting in a multisystemic clinical picture, sometimes including cognitive impairment. Until the beginning of the XXI century, treatment was mainly supportive. Bone marrow transplantation improved the natural course of the disease in some types of MPS, but the morbidity and mortality restricted its use to selected cases. The identification of the genes involved, the new molecular biology tools and the availability of animal models made it possible to develop specific enzyme replacement therapies (ERT) for these diseases. At present, a great number of Brazilian medical centers from all regions of the country have experience with ERT for MPS I, II, and VI, acquired not only through patient treatment but also in clinical trials. Taking the three types of MPS together, over 200 patients have been treated with ERT in our country. This document summarizes the experience of the professionals involved, along with the data available in the international literature, bringing together and harmonizing the information available on the management of these severe and progressive diseases, thus disclosing new prospects for Brazilian patients affected by these conditions

Impact of COVID-19 on cardiovascular testing in the United States versus the rest of the world

Objectives: This study sought to quantify and compare the decline in volumes of cardiovascular procedures between the United States and non-US institutions during the early phase of the coronavirus disease-2019 (COVID-19) pandemic. Background: The COVID-19 pandemic has disrupted the care of many non-COVID-19 illnesses. Reductions in diagnostic cardiovascular testing around the world have led to concerns over the implications of reduced testing for cardiovascular disease (CVD) morbidity and mortality. Methods: Data were submitted to the INCAPS-COVID (International Atomic Energy Agency Non-Invasive Cardiology Protocols Study of COVID-19), a multinational registry comprising 909 institutions in 108 countries (including 155 facilities in 40 U.S. states), assessing the impact of the COVID-19 pandemic on volumes of diagnostic cardiovascular procedures. Data were obtained for April 2020 and compared with volumes of baseline procedures from March 2019. We compared laboratory characteristics, practices, and procedure volumes between U.S. and non-U.S. facilities and between U.S. geographic regions and identified factors associated with volume reduction in the United States. Results: Reductions in the volumes of procedures in the United States were similar to those in non-U.S. facilities (68% vs. 63%, respectively; p = 0.237), although U.S. facilities reported greater reductions in invasive coronary angiography (69% vs. 53%, respectively; p < 0.001). Significantly more U.S. facilities reported increased use of telehealth and patient screening measures than non-U.S. facilities, such as temperature checks, symptom screenings, and COVID-19 testing. Reductions in volumes of procedures differed between U.S. regions, with larger declines observed in the Northeast (76%) and Midwest (74%) than in the South (62%) and West (44%). Prevalence of COVID-19, staff redeployments, outpatient centers, and urban centers were associated with greater reductions in volume in U.S. facilities in a multivariable analysis. Conclusions: We observed marked reductions in U.S. cardiovascular testing in the early phase of the pandemic and significant variability between U.S. regions. The association between reductions of volumes and COVID-19 prevalence in the United States highlighted the need for proactive efforts to maintain access to cardiovascular testing in areas most affected by outbreaks of COVID-19 infection

Catálogo Taxonômico da Fauna do Brasil: setting the baseline knowledge on the animal diversity in Brazil

The limited temporal completeness and taxonomic accuracy of species lists, made available in a traditional manner in scientific publications, has always represented a problem. These lists are invariably limited to a few taxonomic groups and do not represent up-to-date knowledge of all species and classifications. In this context, the Brazilian megadiverse fauna is no exception, and the Catálogo Taxonômico da Fauna do Brasil (CTFB) (http://fauna.jbrj.gov.br/), made public in 2015, represents a database on biodiversity anchored on a list of valid and expertly recognized scientific names of animals in Brazil. The CTFB is updated in near real time by a team of more than 800 specialists. By January 1, 2024, the CTFB compiled 133,691 nominal species, with 125,138 that were considered valid. Most of the valid species were arthropods (82.3%, with more than 102,000 species) and chordates (7.69%, with over 11,000 species). These taxa were followed by a cluster composed of Mollusca (3,567 species), Platyhelminthes (2,292 species), Annelida (1,833 species), and Nematoda (1,447 species). All remaining groups had less than 1,000 species reported in Brazil, with Cnidaria (831 species), Porifera (628 species), Rotifera (606 species), and Bryozoa (520 species) representing those with more than 500 species. Analysis of the CTFB database can facilitate and direct efforts towards the discovery of new species in Brazil, but it is also fundamental in providing the best available list of valid nominal species to users, including those in science, health, conservation efforts, and any initiative involving animals. The importance of the CTFB is evidenced by the elevated number of citations in the scientific literature in diverse areas of biology, law, anthropology, education, forensic science, and veterinary science, among others

ESR spectra of B-FABP mutants R30R1, Q31R1, V32R1, G33R1 and N34R1 in the absence (black) and in the presence of LPC (gray) or LPG (light gray) micelles in 20 mM phosphate buffer (pH 8.0).

<p>The arrow denotes the more immobilized population in the G33R1 spectrum.</p

Top view of the three-dimensional structure of human B-FABP (PDB ID 1JJX), showing the native residues that were mutated to Cys residues in α-helix A1 (A) or in α-helix A2 (B).

<p>Panel (C): front view of the three-dimensional structure of human B-FABP (PDB ID 1JJX), showing the residues that form the group I (magenta), and the residues which form group II (green) discussed in the text.</p

ESR spectra of B-FABP mutants D17R1, E18R1, M20R1 and K21R1, in the absence (black) and in the presence of LPC (gray) or LPG (light gray) micelles in 20 mM phosphate buffer (pH 8.0).

<p>Except for mutant M20R1, the mutants presented decreased mobility upon addition of the membrane mimetic. The arrow denotes the more immobilized population in D17R1 spectrum, which showed up in the presence of the micelles.</p

CD spectra of B-FABP wild type and their mutants in 20 mM phosphate buffer (pH 8.0).

<p>All spectra are characterized by a negative minimum around 215 nm, which is typical in β-rich proteins. The similarity of the spectra suggests that the introduction of the Cys residue in the mutants of B-FABP has not significantly altered their overall secondary structure arrangement.</p

ESR spectra of 5- (top), 12- (middle) and 16-SASL (bottom) incorporated in LPC (left) or LPG (right) micelles.

<p>Black lines are the control experiments and gray lines are the spectrum after addition of G33C B-FABP. Changes in lineshape are clearly seen in all cases when mutant G33R1 is added to either LPC or LPG micelles, indicating a less mobile environment around the <i>n</i>-SASL probe in the presence of G33R1 B-FABP. The arrow denotes the more immobilized population in the 12-SASL spectrum.</p

(Top) Calculated parameter δ⁻¹ as a measure of backbone dynamics of R1 in solution (black squares) and in the presence of LPC (open circles) or LPG (open triangles) micelles.

<p>(Bottom) Calculated values of isotropic hyperfine coupling (a_N) for the ESR spectra of B-FABP mutants in solution (black squares) and in the presence of LPC (open circles) or LPG (open triangles) micelles. The mutants were divided in two groups (I and II) according to their response to the presence of the membrane model. Group I mutants presented decreased mobility (lower δ⁻¹ values) of the R1 side chain in the presence of LPC or LPG micelles. G33R1 was the only mutant showing different responses in terms of a_N variations.</p