Abstract Introduction Global disparities in outcomes between low and high-income countries result from social, political, and economic factors. Despite advances in molecular characterization in neuro-oncology, the implementation in developing countries remains challenging. Objective To analyze the results and real-world applicability of the Next Generation Sequencing (NGS) OCCRA panel for pediatric brain tumors at GRAACC Hospital, São Paulo, Brazil. Methods Cross sectional study-database analysis. Results From 2018-2025, 626 patients were diagnosed with pediatric brain tumors: 241 (38.5%) low-grade gliomas (LGG), 112 (17.9%) medulloblastoma (MB), 106 (16.9%) high-grade gliomas (HGG), 42 (6.7%) ependymomas, 39 (6.2%) germ cell tumors (GCT), 34 (5.4%) craniopharyngiomas, 24 (3.8%) choroid plexus tumors (CPT), 11 (1.8%) atypical teratoid/rhabdoid tumors (AT/RT), 7 (1.1%) sarcomas, 7 (1.1%), pineoblastoma (PB) and 3 (0.48%) Embryonal Tumor with Multilayered Rosettes (ETMR). NGS was performed on 235 samples (37.5%), identifying 161 variants (68.5%). Alterations were detected in LGG (80/95; 84.2%), mainly BRAF–KIAA1549; HGG (32/35; 91.4%), including H3K27M (14), BRAFV600E (4), and ALK/ROS1/NTRK fusions in infants (4); DIPG (15) with H3K27M mutations; medulloblastoma (17/37); AT/RT (3/8); pineoblastoma (1/4); craniopharyngioma (3/3); ependymoma (7/11); CPT (2/3); sarcomas (2/2); and GCT (1/2). Fifteen patients with LGG and BRAF alterations received dabrafenib and trametinib, trametinib alone or tovorafenib. Two HGG patients and BRAFV600E received dabrafenib and trametinib and one patient with CDK4 amplification received palbociclib. Three patients with infant-type hemispheric gliomas and ALK/ROS/NTRK fusions received lolartinib/repotrectinib. In 11 cases, drugs were provided through expanded access, eight through clinical trials and two through private health insurance. Conclusion Despite molecular analysis being feasible in 37.5% of cases, targeted therapy was available to a small proportion of patients (3.3%), primarily through compassionate use and a recent but limited availability of clinical trials. This highlights that access to molecular diagnostics and targeted therapies remain challenging in less privileged countries.
Sarcocystis spp. are cyst-forming protozoan parasites with a global distribution that infect a wide range of domestic and wild animals, impacting both animal health and livestock productivity. In sheep, infections can cause clinical disease, reproductive losses, and economic damage, particularly when pathogenic species such as Sarcocystis tenella are involved. Grazing sheep, including breeds such as the Serra da Estrela from central Portugal, are at increased risk due to frequent contact with shepherd dogs, which serve as definitive hosts. Despite their significance, data on the occurrence and distribution of Sarcocystis spp. in Portuguese sheep remain limited. This study analyzed 179 samples collected in central Portugal during 2024, including 41 brain tissues and 88 blood samples from sheep, and 50 stool samples from shepherd dogs, using conventional PCR and bidirectional Sanger sequencing. Sarcocystis sp. closely related to S. tenella was detected exclusively in sheep brain tissue, with a prevalence of 4.9% (2/41; 95% CI: 0.60–16.53), while no parasite DNA was found in blood or dog samples. These results provide the first molecular confirmation of Sarcocystis spp. closely related to S. tenella in Portuguese sheep raised for human consumption and establish baseline data for future epidemiological surveillance and control strategies.
The white-spotted jellyfish, Phyllorhiza punctata, is an invasive species with significant ecological and economic relevance spreading across various regions. While its ecological impact is well-documented, its molecular and biochemical characteristics remain poorly understood. In this study, we integrate proteomic data generated by LC-MS/MS with publicly available transcriptomic information to characterize P. punctata, analyzing differential protein expression across three distinct tissues: oral arms, mantle, and gonads. A total of 2764 proteins and 25,045 peptides were identified, including several venom components such as jellyfish toxins (JFTs) and phospholipase A2 (PLA2), which were further investigated and compared to toxins from other species. Enrichment analyses revealed clear tissue-specific functions. Additionally, deep learning and machine learning tools identified 274 promising AMP candidates, including the α-helical, β-sheet, and αβ-motif peptides. This dataset provides new insights into the protein composition of P. punctata and highlights strong AMP candidates for further characterization, underscoring the biotechnological potential of underexplored cnidarian species.
The intensification of aquaculture has escalated disease outbreaks and overuse of antibiotics, driving the global antimicrobial resistance (AMR) crisis. Antimicrobial peptides (AMPs) provide a promising alternative due to their rapid, broad-spectrum activity, low AMR risk, and additional bioactivities, including immunomodulatory, anticancer, and antifouling properties. AMPs derived from aquatic invertebrates, particularly marine-derived, are well-suited for aquaculture, offering enhanced stability in high-salinity environments. This study compiles and analyzes data from AMP databases and over 200 scientific sources, identifying approximately 350 AMPs derived from aquatic invertebrates, mostly cationic and α-helical, across 65 protein families. While in vitro assays highlight their potential, limited in vivo studies hinder practical application. These AMPs could serve as feed additives, therapeutic agents, or in genetic engineering approaches like CRISPR/Cas9-mediated transgenesis to enhance resilience of farmed species. Despite challenges such as stability, ecological impacts, and regulatory hurdles, advancements in peptidomimetics and genetic engineering hold significant promise. Future research should emphasize refining AMP enhancement techniques, expanding their diversity and bioactivity profiles, and prioritizing comprehensive in vivo evaluations. Harnessing the potential of AMPs represents a significant step forward on the path to aquaculture sustainability, reducing antibiotic dependency, and combating AMR, ultimately safeguarding public health and ecosystem resilience.
Sea anemones (Actiniaria, Cnidaria) are promising targets for biomedical research, as they produce unique bioactive compounds, including toxins and antimicrobial peptides (AMPs). However, the diversity and mechanisms underlying their chemical defenses remain poorly understood. In this study, we investigate the proteomic profiles of the unexplored sea anemone Actinia fragacea by analyzing its venom nematocyst extract, tissues, and mucus secretion. A total of 4011 different proteins were identified, clustered into 3383 protein groups. Among the 83 putative toxins detected, actinoporins, neurotoxins, and phospholipase A2 were uncovered, as well as two novel zinc metalloproteinases with two specific domains (ShK) associated with potassium channel inhibition. Common Gene Ontology (GO) terms were related to immune responses, cell adhesion, protease inhibition, and tissue regeneration. Furthermore, 1406 of the 13,276 distinct peptides identified were predicted as potential AMPs, including a putative Aurelin-like AMP localized within the nematocysts. This discovery highlights and strengthens the evidence for a cnidarian-exclusive Aurelin peptide family. Several other bioactive compounds with distinctive defense functions were also detected, including enzymes, pattern recognition proteins (PRPs), and neuropeptides. This study provides the first proteome map of A. fragacea, offering a critical foundation for exploring novel bioactive compounds and valuable insights into its molecular complexity.
OBJECTIVES:The primary objective of this study was to determine if workers occupationally exposed (WOE) to sheep, specifically shepherds and cheesemakers in central Portugal, are more likely to be seropositive for anti-Toxoplasma gondii IgG compared to the general population. Additionally, the study aimed to explore potential differences in seropositivity between shepherds and cheesemakers, while evaluating age, gender, and activity as possible risk factors for T. gondii infection. METHODS:A total of 96 WOE, including 21 shepherds and 75 cheesemakers, were tested for anti-T. gondii IgG using a commercial enzyme-linked immunosorbent assay (ELISA). The control group consisted of 192 sera samples from blood donors matched by age, gender, and residence. Chi-square tests with Yates correction were used to compare seroprevalence between WOE and the general population, and between shepherds and cheesemakers. Univariate and multivariable logistic regression analyses were performed to evaluate potential associations between T. gondii seropositivity and factors such as activity, gender, and age. RESULTS:The overall seroprevalence was 63.5% in the WOE and 52.6% in the general population, with no statistically significant difference (p = .101). Among WOE, 52.4% of shepherds and 66.7% of cheesemakers were seropositive, with no significant difference between the two groups (p = .344). Univariate and multivariable analyses indicated neither activity, age, nor gender were significant risk factors for seropositivity in the case population. CONCLUSION:The study did not find a significant increased risk of T. gondii seropositivity among shepherds and cheesemakers compared to the general population. While high seroprevalence was observed in both groups, other factors unrelated to occupational exposure may be influencing the risk of T. gondii infection. More research is needed, particularly focusing on cheesemakers, to further explore potential occupational health risks related to T. gondii.
Fasciolosis and dicrocoeliosis are severe parasitic infections that result in substantial economic damages to livestock farming globally as a consequence of reduced productivity and viscera condemnation. Molecular tests such as polymerase chain reaction (PCR) can detect Fasciola hepatica and Dicrocoelium dendriticum DNA with high sensitivity and specificity. In this study, we aimed to assess the presence of F. hepatica and D. dendriticum by PCR-based techniques in 400 small ruminant bile samples retrieved from central Portugal. Additionally, we conducted genetic characterisation of F. hepatica and D. dendriticum in these samples. Only one of the 400 bile samples (0.25%; 95% confidence interval [CI]: 0.01–1.39) examined by PCR tested positive for F. hepatica, and two samples (0.50%, 95% CI: 0.06–1.79) tested positive for D. dendriticum. Our findings indicate a low prevalence of F. hepatica and D. dendriticum in Portuguese small ruminants, underscoring the need to investigatefactors leading to meat rejection in slaughterhouses. Implementing effective parasite control measures is crucial to minimise economic losses and improve food safety. Addressing these infections and deploying targeted control strategies can enhance livestock production sustainability and ensure safe, high-quality meat products for consumers.
This study investigates the diversity and distribution of Medusozoa, a clade of the phylum Cnidaria, within the framework of the Iberian Peninsula and surrounding archipelagos. Medusozoa is notably recognized for encompassing jellyfish species with the capacity to exert detrimental ecological and socioeconomic impacts, this group of mostly marine organisms assumes a critical role in aquatic food webs and exhibits considerable biotechnological potential. A comprehensive dataset sourced from over 230 bibliographic references and public databases, comprising over 30,000 reports of Medusozoa in the Iberian region, reveals 593 species across the four medusozoan classes (549 hydrozoans, 37 scyphozoans, 5 staurozoans, and 2 cubozoans). Additionally, publicly available genomic, transcriptomic, and proteomic metadata from the phylum Cnidaria are incorporated. The analyses highlight Hydrozoa as the most frequently reported and diverse class in the Iberian region. Specifically, the order Leptothecata exhibits the highest diversity, while Siphonophorae stands out as the most documented with Physalia physalis emerging as the highest reported species. Spatial distribution patterns reveal that holoplanktonic species are more widespread and abundant than their benthic and meroplanktonic counterparts. Furthermore, medusozoans with a free-swimming life form display greater diversity and dispersal compared to sessile species. The Northeast Atlantic section of the region demonstrates greater medusozoan diversity compared to the Mediterranean. Key findings also include information into invasive and introduced species, bloom-forming organisms, and edible species. A sustained trend of discovering new species of Medusozoa over time was observed, underscoring untapped exploration potential in the Iberian region. The study reveals a clear limitation of omics data in cnidarians, particularly in the Medusozoa clade. This research provides an overall perspective on medusozoans in the Iberian region, underlining the importance of additional omics studies while highlighting growing interest in exploring the biotechnological potential of these organisms. This research serves as a valuable resource for future investigations, providing insights into underexplored species and those with greater ecological and socioeconomic importance.
T. gondii is the causal agent of toxoplasmosis, a worldwide zoonotic disease relevant in human and veterinary medicine. In Algeria, few reports focused on the presence and circulation of this parasite in the local goat population. The aim of the survey was to evaluate toxoplasmosis seroprevalence and associated risk factors. Sera from 460 goats reared on 72 farms in northeastern Algeria were collected and tested for IgG antibodies to T. gondii by an indirect ELISA. To identify risk factors, a linear regression analysis of the variables was performed. Anti-T. gondii antibodies were found in 94.44% (68/72; 95% CI: 73.34–119.73) of goat farms and in 53.26% (245/460; 95% CI: 46.80–60.36) at the individual level. The multivariable analysis showed that seasonal pasture (OR = 3.804; 95% CI: 3.321–4.358; p = 0.003), presence of water source in pasture area (OR = 4.844; 95% CI: 1.942–7.789; p = 0.0004), use of anthelminthics (OR = 2.640; 95% CI: 1.592–3.146; p = 0.036), number of cats, hygiene, proportion of abortions, number of abortions in the last year, year of sampling, region, and season were the variables significantly associated with T. gondii seropositivity. Abortions in goat herds seem to be related to T. gondii exposure, thus it is crucial to undertake measures and strategies to reduce, control, and prevent toxoplasmosis infection in goats, and thereby in humans, from Algeria.
Toxoplasma gondii and Neospora caninum are obligate intracellular protozoan parasites infecting a wide range of hosts worldwide. However, information on the epidemiology of toxoplasmosis and neosporosis in cats from Portugal is limited. Thus, this study aims to evaluate anti-T. gondii and anti-N. caninum seroprevalence in client-owned cats from Portugal and to identify risk factors using a panel of well-characterized sera. A total of 183 domestic cats were sampled and screened for antibodies against T. gondii and N. caninum using commercial ELISA assays, and their owners answered an online questionnaire designed to obtain background information. The overall anti-T. gondii and anti-N. caninum seroprevalences were 13.1% (CI: 8.97-18.77) and 3.8% (CI: 1.87-7.68), respectively. Univariate analysis revealed that living strictly indoors was a significant protection factor (cOR: 0.053; CI: 0.005-0.627), and the presence of a chronic disease a significant risk factor (cOR: 3.106; CI: 1.062-9.082) to T. gondii seroprevalence. When performing multivariate analysis, only chronic disease (aOR: 57.527; CI: 1.7-1976.7) and seropositivity to N. caninum (aOR: 7.929; CI:0.8-82.9) were found to be a significant risk factor to anti-T. gondii antibodies. To the best of our knowledge, this is the first report of N. caninum seropositivity in cats from Portugal.
Q fever is a zoonotic disease caused by Coxiella burnetii (C. burnetii), a pathogen with a high capability for infection. The disease primarily affects ruminants, leading to reproductive disorders, but can also be transmitted to humans through contact with infected animals or their products. In Algeria, Q fever is endemic, but little is known about the presence and circulation of C. burnetii in domestic goats. This study aimed to perform a multicentric serological analysis of C. burnetii antibodies in domestic goats from four provinces in the North East Region of Algeria. A total of 504 goat serum samples were collected from 77 herds, and serological analysis was performed using an indirect ELISA. The overall seroprevalence at the herd level was 35.06%, and 8.73% at the individual level. Herds with a history of abortions showed a high seropositivity rate of 88.9%. This research indicates the wide distribution of C. burnetii in goats in this region, suggesting the potential for zoonotic transmission to humans. Further studies and monitoring programs are essential to gain a comprehensive understanding of C. burnetii epidemiology in Algeria and to prevent or mitigate potential outbreaks. Awareness among practitioners and farmers is crucial to address this public health concern effectively.
Vertebrates have some of the most complex and diverse features in animals, from varied craniofacial morphologies to colorful pigmentation patterns and elaborate social behaviors. All of these traits have their developmental origins in a multipotent embryonic lineage of neural crest cells. This "fourth germ layer" is a vertebrate innovation and the source of a wide range of adult cell types. While others have discussed the role of neural crest cells in human disease and animal domestication, less is known about their role in contributing to adaptive changes in wild populations. Here, we review how variation in the development of neural crest cells and their derivatives generates considerable phenotypic diversity in nature. We focus on the broad span of traits under natural and sexual selection whose variation may originate in the neural crest, with emphasis on behavioral factors such as intraspecies communication that are often overlooked. In all, we encourage the integration of evolutionary ecology with developmental biology and molecular genetics to gain a more complete understanding of the role of this single cell type in trait covariation, evolutionary trajectories, and vertebrate diversity.
Abstract Cases Presentations: Case 1: A 1-year-old boy with suprasellar pilocytic astrocytoma with previous history of shunting disfunction, treatment according vinblastine protocol due to anaphylactic reaction with carboplatin presented with ascites and necessity of ventricular-atrial shunt. Due to high protein cerebrospinal fluid (CSF) level (551mg/dl) he was submitted to external ventricular drainage and bevacizumab 10mg/kg was associated to his oncology treatment. After three cycles of bevacizumab, the patients’ CSF protein levels decreased dramatically 178 mg/dL, allowing the shunt procedure without complications and shorter hospital stay. Case 2: A ten-year-old boy with suprasellar pilocytic astrocytoma treated with three lines of chemotherapy showed tumor progression one year after the end of carboplatin-vincristine protocol and shunting disfunction. External ventricular drainage was performed, and the CSF showed 590mg/dl protein level. He was treated with vinblastine 6mg/m2 weekly and bevacizumab 10mg/kg each 14 days. After two cycles of bevacizumab, the protein level was 191mg/dl allowing another V-P shunt procedure. Discussion: Optic pathway gliomas frequently cause elevated cerebrospinal fluid protein concentrations leading to shunts occlusions and failures, necessity of external ventricular drainage and longtime hospitalization, implicating risk of serious infections. Bevacizumab is a monoclonal antibody with immunomodulatory and anti-vascular endothelial growth factor (VEGF) activities that has been used in combination with other chemotherapeutic agents such as irinotecan and vinblastine to treat low-grade gliomas and has been reported to decrease the CSF protein concentration.Final Comments: Bevacizumab treatment in patients with gliomas and high CSF protein levels seems effective in decreasing protein leakage from the vessels to the ventricles, thereby improving the scope for successful shunt placement.
Optic pathway gliomas (OPG) can cause elevated cerebrospinal fluid (CSF) protein concentrations. We report on two patients with suprasellar low-grade gliomas and high CSF protein levels (590 and 551 mg/dl) that precluded shunt implantation. After two and three doses of bevacizumab, respectively, the levels dropped dramatically to 191 and 178 mg/dl, respectively. Bevacizumab treatment was associated with a decrease in CSF protein level, allowing successful shunt placement. Our results are consistent with the pharmacological mechanism of bevacizumab, which decreases protein leakage from blood vessels to the ventricles.
(1) Background: Toxoplasma gondii is a widespread zoonotic agent that greatly impacts Public Health, being responsible for one of the most important parasitic zoonosis worldwide. T. gondii has a heteroxenous life cycle, with cats being the definitive hosts and all warm-blooded animals, including humans, being intermediate hosts. Veterinary practitioners (VP) may be at a higher risk than the general population for T. gondii infection, as they have direct and daily contact with many animal species. The aim of the present study was to ascertain if VP were more likely to be anti-T. gondii IgG seropositive than the general population, as well as to understand if age, accidents with blood-contaminated sharps (cross-blood contamination), gender, working years, and geographic regions play a role as risk factors for T. gondii infection. For this purpose, a case–control study using archived samples was performed. (2) Methods: A total of 350 veterinary practitioners were tested using a commercial semiquantitative enzyme immunoassay for anti-T. gondii IgG. From the general population, 175 anonymous volunteers (matched with cases by region, age, and gender) were studied for anti-T. gondii IgG. (3) Results: There was no statistical difference found between the presence of anti-T. gondii IgG in practitioners (26%; CI = 21.40–30.60%) and the general population (33.14%; CI = 26.17–40.12%) (p = 0.108). Univariate and multivariate analysis showed that only age (older groups) was found to be associated with a higher prevalence of anti-T. gondii IgG, with significant p values (p < 0.05) for both univariate and multivariate analysis. (4) Conclusions: To the best of our knowledge, this is the first case–control study fully focused on the prevalence of anti-T. gondii IgG in VP in Portugal, showing that there was no significant risk for T. gondii infection in veterinarians exposed daily and repeatedly to different species of animals.