Analysis of the Association between Copy Number Variation and Ventricular Fibrillation in ST-Elevation Acute Myocardial Infarction.

Sudden cardiac death due to ventricular fibrillation (VF) during ST-elevation acute myocardial infarction (STEAMI) significantly contributes to cardiovascular-related deaths. Although VF has been linked to genetic factors, variations in copy number variation (CNV), a significant source of genetic variation, have remained largely unexplored in this context. To address this knowledge gap, this study performed whole exome sequencing analysis on a cohort of 39 patients with STEAMI who experienced VF, aiming to elucidate the role of CNVs in this pathology. The analysis revealed CNVs in the form of duplications in the PARP2 and TTC5 genes as well as CNVs in the form of deletions in the MUC15 and PPP6R1 genes, which could potentially serve as risk indicators for VF during STEAMI. The analysis also underscores notable CNVs with an average gene copy number equal to or greater than four in DEFB134, FCGR2C, GREM1, PARM1, SCG5, and UNC79 genes. These findings provide further insight into the role of CNVs in VF in the context of STEAMI.

A New Single-Step Approach Based on Supramolecular Solvents (SUPRAS) to Extract Bioactive Compounds with Different Polarities from Eugenia pyriformis Cambess (Uvaia) Pulp.

This work employed supramolecular solvents (SUPRAS) made up of octanoic acid, ethanol, and acidified water (pH ~ 3) to extract and concentrate bioactive compounds from Eugenia pyriformis Cambess (uvaia) pulp. At first, the SUPRAS phase characterization demonstrated the spherical aggregates' formation with an internal hydrophobic structure and an external hydrophilic media. Subsequently, the simultaneous production and extraction (SUPRAS-SPE) method was employed in the solid-liquid extraction (SLE) of uvaia pulp. The extracts were evaluated through Folin-Ciocalteu reducing capacity, antioxidant activity (DPPH assay), total carotenoid content (TCC), and total flavonoid content (TFC). The results showed that reducing the ethanol concentration in the SUPRAS composition boosted the TCC extraction while increasing the ethanol presence, promoting a high TFC yield. Moreover, the SUPRAS-SPE method was compared with the ex situ method (SUPRAS-ES), where the solvent was previously produced and then applied to the SLE. Both methods were evaluated concerning their EE% and thermal degradation. The SUPRAS-SPE method increased the EE% of uvaia pulp bioactive compounds compared to the SUPRAS-SE method, providing a suitable microenvironment to extract, concentrate, and stabilize carotenoids from uvaia pulp, offering a sustainable alternative to obtain valuable compounds.

Impact of defibrillation technique on the rheological, thermo-mechanical, and nutritional properties of nanosuspensions produced from multiple fractions of pinhão seed (Araucaria angustifolia (Bertol.) Kuntze).

This work aimed to evaluate the influence of the mechanical defibrillation technique on the pinhão nanosuspensions production obtained from the whole pinhão, its coat, and almond. The nanosuspensions were characterized concerning their composition, morphology, thermal stability, rheological behavior, compound profiling, and cytotoxicity. The results revealed a significant fiber content in pinhão coat nanosuspension (63.12 ± 0.52 %) and non-fiber carbohydrates in whole pinhão (59.00 ± 0.13 %) and almond (74.39 ± 0.23 %) nanosuspensions. The defibrillation process led to micro/nano-sized fibers in pinhão coat nanosuspensions and small-size starch granules in almond nanosuspensions. The nanosuspensions containing pinhão coat exhibited a gel-like behavior, while almond nanosuspensions displayed liquid-like characteristics. Pinhão coat nanosuspensions presented a significant content of flavonoids and phytosterols, whereas almond-based nanosuspensions contained substantial sugar amounts. No cytotoxicity was observed at the concentrations evaluated. These findings demonstrated that the defibrillation technique impacted the properties of pinhão constituents, allowing their application in new product development.

Percutaneous Management of Aortic Root Rupture After Balloon-Expandable TAVR.

This article presents a case of aortic root rupture after transfemoral aortic valve replacement, successfully treated by a percutaneous approach, with a good evolution of the patient both during hospitalization and in the long term, being asymptomatic at the cardiovascular level after 18 months of follow-up. (Level of Difficulty: Advanced.).

Low-cost printed holography for the generation of structured light.

Recently, the study of structured light fields has attracted great interest, which includes their generation and characterization techniques, as well as their application. Most of these techniques rely on the use of expensive devices, such as liquid crystal spatial light modulators or digital micromirror devices that also require specialized knowledge and software. In this work, we present a scheme for producing low-cost amplitude holograms for the generation of structured light fields. We demonstrate the feasibility of this technique by creating a variety of paraxial modes, such as the well-known Laguerre-Gaussian and Hermite-Gaussian beams. We also demonstrate the potential of our technique in solving the phase retrieval problem to generate 2D and 3D holographic images of objects. Finally, we compare our proposal with the typical generation techniques using digital micromirror devices. Our proposal will pave the path for the generation of structured light beams in more affordable ways for the application in undergrad laboratories.

Prognostic impact of coronary lesions and its revascularization in a 5-year follow-up after the TAVI procedure.

BACKGROUND: Coronary artery disease (CAD) is a common finding in patients undergoing transcatheter aortic valve implantation (TAVI). However, its prognostic significance and its management remains controversial. AIMS: This study sought to determine whether the presence of CAD, its complexity, and angiography-guided percutaneous coronary intervention (PCI) are associated with outcomes after TAVI. METHODS: All patients undergoing TAVI at a tertiary referral center between 2008 and 2018 were included in a prospective observational study. Baseline SYNTAX (Synergy between PCI with Taxus and Cardiac Surgery) score (SS) and a residual SS after PCI were calculated. The endpoints on the 5 year follow-up were all-cause mortality and a composite of mayor cardiovascular adverse events (MACE). RESULTS: In 379 patients, the presence of CAD and its complexity were not significantly associated with worse 5-year survival after TAVI, with a mortality for SS0 of 45%; for SS 1-22 of 36.5% (HR 0.77; 95% CI 0.53-1.11, p = 0.15) and for SS > 22 of 42.1% (HR 1.24; 95% CI 0.59-2.63, p = 0.57). Regarding the combined event of MACE, there were also no statistically significant differences between patients with CAD and without CAD (56.8% in patients without CAD and 54.9% in patients with CAD; HR 1.06; 95% CI 0.79-1.43, p = 0.7). Angiography-guided PCI or completeness of revascularization was not associated with different outcomes. CONCLUSIONS: In the present analysis, neither the presence nor the extent of CAD, nor the degree of revascularization, was associated with a prognostic impact in patients undergoing TAVI at 5-year follow-up.

Rare Variants in Genes of the Cholesterol Pathway Are Present in 60% of Patients with Acute Myocardial Infarction.

Acute myocardial infarction (AMI) is a pandemic in which conventional risk factors are inadequate to detect who is at risk early in the asymptomatic stage. Although gene variants in genes related to cholesterol, which may increase the risk of AMI, have been identified, no studies have systematically screened the genes involved in this pathway. In this study, we included 105 patients diagnosed with AMI with an elevation of the ST segment (STEMI) and treated with primary percutaneous coronary intervention (PPCI). Using next-generation sequencing, we examined the presence of rare variants in 40 genes proposed to be involved in lipid metabolism and we found that 60% of AMI patients had a rare variant in the genes involved in the cholesterol pathway. Our data show the importance of considering the wide scope of the cholesterol pathway in order to assess the genetic risk related to AMI.

Amphibians from Serra do Cipó, Minas Gerais, Brasil. VI: A New Species of the Physalemus deimaticus Group (Anura, Leptodactylidae).

We describe a new species of Physalaemus assigned to the Physalaemus signifer Clade, and it is morphologically similar to P. rupestris, from the highlands of the Serra do Cipó in the southern Espinhaço Range, State of Minas Gerais, Southeastern Brazil. The new species is diagnosed by using the following combination of character states: presence of an arrow-shaped blotch on the dorsum of body; presence of a median longitudinal light stripe over urostyle region; belly and ventral surface of thigh marbled with dark gray irregularly shaped blotches on a bluish background; absence of reddish coloration over axillary and inguinal regions in live individuals; bright orange dots scattered over head, upper lip, and dorsum of body in live individuals; ventral surface of hand and foot red in live individuals; small size (adult male SVL=16.2-18.2 mm); presence of brown, not divided, nuptial pad in males; END/ED in males ranging from 0.85-0.93; supernumerary tubercles on foot absent; tarsal fold absent; tarsal tubercle absent; texture of posterior region of belly and ventral surface of thigh smooth; advertisement call composed of two note types (note A + B); advertisement call duration of 0.80-1.28 s; note A with ascending amplitude until mid-note then descending towards the end of the note; note B with pulses arranged in 5-7 groups; and dominant frequency of note A from 1734.4-2765.6 Hz and of note B from 1507.3-2859.4 Hz. A phylogenetic analysis based on mitochondrial DNA sequences recovered the new species nested within the Physalaemus deimaticus species group. Additionally, we redescribe the call of Physalaemus rupestris and provide a review of the geographic distribution and conservation status of the species belonging to the P. deimaticus species group.

A grave drum at rocky springs: the vocalization of Bokermannohyla alvarengai (Anura: Hylidae) from the Espinhaço Range, southeastern Brazil, with notes on its natural history.

Communication in anurans is mediated mainly by acoustic signals, which are relevant for mating, territoriality, and other social interactions (Wells 2007). Although these signals are usually conspicuous and relatively stereotyped, some Neotropical frogs display noticeable diversity and complexity in their calls. For instance, Bokermannohyla, a genus of gladiator treefrog from the Atlantic Forest, Cerrado, and Caatinga Biomes of Brazil, often have complex vocal repertoires (Carvalho et al. 2012; Nali Prado 2014), whilst some congeners have simple and stereotyped calls emitted continuously (Carvalho et al. 2013; Taucce et al. 2015; Giaretta et al. 2016; Rocha et al. 2016).

Correction: A review of the elusive bicolored iris Snouted Treefrogs (Anura: Hylidae:Scinax uruguayus group).

[This corrects the article DOI: 10.1371/journal.pone.0222131.].

A review of the elusive bicolored iris Snouted Treefrogs (Anura: Hylidae:Scinax uruguayus group).

The genus Scinax currently includes more than 120 species, recovered in two major clades, the S. catharinae and the S. ruber clades. The latter comprises 75 species, most of which remain unassigned to any species groups, while 12 are included in the S. rostratus and S. uruguayus groups. In this paper we present a taxonomic review of the two species currently included in the S. uruguayus group, discussing some putative phenotypic synapomorphies of this group. Although S. pinima and S. uruguayus have been considered as distinct species, this has been based on scant evidence, and several authors doubted of their distinctiveness. Our study of available specimens of S. pinima and S. uruguayus corroborates that both are valid and diagnosable species based on phenotypic evidence. Furthermore, our results show that S. pinima previously known only from its type locality, has a much widespread distribution than previously thought (including the Brazilian states of Paraná, Santa Catarina, and Rio Grande do Sul), which, added to the biological information presented here allows to suggest the removal of this species from the "Data Deficient" IUCN Red List category to "Least Concern". Also, we describe a new species formerly reported as S. aff. pinima and S. uruguayus from NE Argentina and some localities from the Brazilian State of Rio Grande do Sul. All species are diagnosed and characterized using adult and larval morphology, osteology, vocalizations, cytogenetics, and natural history.

The interplay between zinc and iron homeostasis in Aspergillus fumigatus under zinc-replete conditions relies on the iron-mediated regulation of alternative transcription units of zafA and the basal amount of the ZafA zinc-responsiveness transcription factor.

Aspergillus fumigatus is a saprophyte fungus that typically grows on organic decaying matter but can also parasitize immunosuppressed hosts. This is explained, in part, by its great ability to take up Zn2+ ions from living tissues, which is induced by the ZafA transcription factor. This study shows that the ZafA-mediated regulation of fungal growth is also influenced by iron availability and that A. fumigatus is well adapted to grow in zinc-limiting and zinc-replete media with Zn:Fe ratios lower in the former than in the latter. Accordingly, this indicates that iron availability appears to be more critical for fungal growth in zinc-replete than in zinc-limiting environments. Interestingly, the cross-regulation of zinc/iron homeostasis under zinc-replete conditions relies on an unprecedented iron-mediated regulation of different zafA transcription units that, along with a limited transcript translation, allows synthesizing the right basal amount of ZafA dependent on iron availability. We posit that this regulatory strategy has evolved in fungi as a mechanism to adjust zinc intake to iron availability under zinc-replete conditions. Thus, fungal growth is enhanced in zinc- and iron-replete media but restricted by reducing zinc intake under iron starvation to prevent the noxious side effects of an intracellular zinc excess during iron deficiency.

Special Issue: Fungal Pathogenesis in Humans: The Growing Threat.

Approximately 150 fungal species are considered as primary pathogens of humans and animals[...].

Prosthetic pulmonary valve and conduit endocarditis in congenital heart disease.

BACKGROUND: Pulmonary valve replacement is one of the most common procedures in patients with congenital heart disease. Little is known about prosthetic valve endocarditis in this population. OBJECTIVES: To review management and outcomes of pediatric and adult patients with a prosthetic pulmonary valve or right ventricle-to-pulmonary artery conduit infective endocarditis. METHODS AND RESULTS: A multiinstitutional cohort of 10 patients is reported. Median age at endocarditis was 24 years (range 8-41 years). The most common causative organisms were Staphylococcus ( n = 4) and Streptococcus species ( n = 2). In addition to medical treatment, 5 patients required surgery. Majors complications such as renal damage, life-threatening hemoptysis, and septic shock were observed. No patient died in hospital or during follow-up. CONCLUSIONS: Pulmonary prosthetic valve endocarditis is a rare condition associated with significant morbidity and a high risk of requiring operative intervention. Larger studies are required to optimize the management.

The Transcription Factor ZafA Regulates the Homeostatic and Adaptive Response to Zinc Starvation in Aspergillus fumigatus.

One of the most important features that enables Aspergillus fumigatus to grow within a susceptible individual and to cause disease is its ability to obtain Zn2+ ions from the extremely zinc-limited environment provided by host tissues. Zinc uptake from this source in A. fumigatus relies on ZIP transporters encoded by the zrfA, zrfB and zrfC genes. The expression of these genes is tightly regulated by the ZafA transcription factor that regulates zinc homeostasis and is essential for A. fumigatus virulence. We combined the use of microarrays, Electrophoretic Mobility Shift Assays (EMSA) analyses, DNase I footprinting assays and in silico tools to better understand the regulation of the homeostatic and adaptive response of A. fumigatus to zinc starvation. We found that under zinc-limiting conditions, ZafA functions mainly as a transcriptional activator through binding to a zinc response sequence located in the regulatory regions of its target genes, although it could also function as a repressor of a limited number of genes. In addition to genes involved in the homeostatic response to zinc deficiency, ZafA also influenced, either directly or indirectly, the expression of many other genes. It is remarkable that the expression of many genes involved in iron uptake and ergosterol biosynthesis is strongly reduced under zinc starvation, even though only the expression of some of these genes appeared to be influenced directly or indirectly by ZafA. In addition, it appears to exist in A. fumigatus a zinc/iron cross-homeostatic network to allow the adaptation of the fungus to grow in media containing unbalanced Zn:Fe ratios. The adaptive response to oxidative stress typically linked to zinc starvation was also mediated by ZafA, as was the strong induction of genes involved in gliotoxin biosynthesis and self-protection against endogenous gliotoxin. This study has expanded our knowledge about the regulatory and metabolic changes displayed by A. fumigatus in response to zinc starvation and has helped us to pinpoint new ZafA target genes that could be important for fungal pathogens to survive and grow within host tissues and, hence, for virulence.