Clinical, epidemiological, and care profile of hospitalized patients with retinoblastoma in Brazil

ABSTRACT Purpose: To describe the epidemiological and clinical profile of hospitalized patients with retinoblastoma in Brazil. Methods: Using data from the Hospital Cancer Registry of the Instituto Nacional de Câncer, patients with the morphological codes of retinoblastoma who were diagnosed between 2000 to 2018, aged 0-19 years, and followed up in registered hospitals (analytical cases) were selected. The relative and absolute frequencies of demographic, clinical, diagnostic, therapeutic, and outcome variables were described. Hospital performance indicators were calculated and compared between hospitals qualified and not qualified to treat pediatric oncology cases and between hospitals with different case volumes (<20, 20-75, >75 cases). Results: Of the 2,269 identified analytical cases from 86 institutions, 48% were from the Southeast, 54% were male, and 66% were aged <4 years. The proportion of missing data (NA) was too high for several variables. Approximately 84% of the patients were from the public health system, 40% had a positive family history, and 88% had unilateral involvement. The first treatment included surgery in 58.3% of the patients (NA=2), Approximately 36.6% of these patients achieved complete remission, 10.8% achieved partial remission, and 12.7% died (NA=59%). Hospital performance indicators were within the target in >90% of the patients. The median time between the first appointment and diagnosis (6 days, interquartile range [IQR] 1-14) was significantly lower and the median time to death was longer (343 days, IQR, 212-539) in high-volume hospitals (>75 cases) than in medium- and low-volume hospitals. Conclusions: Despite the high proportion of missing data, we found that the delay in diagnosis is due to prehospital factors. Additionally, there is a need for educational programs for healthcare professionals and families that emphasize early identification and referral to specialized centers. Future studies should focus on the impact of Hospital Cancer Registry data completeness on outcomes, causes of delay in diagnosis, regional inequalities, and barriers to accessing specialized services.

Factors Associated with Stigma and Beliefs About Psychotropics Among the Japanese Ancestry Population Diagnosed with Depression in Brazil.

To analyze stigma related to depression, beliefs about psychotropics, and associated factors in a population of Japanese ancestry in Brazil. This cross-sectional study was conducted between March and June, 2022. Beliefs about psychotropics (BMQ-specific) and depression-related stigma (The Stigma Scale) were collected through an online questionnaire. Multiple linear regression analysis was performed to identify the factors associated with these dependent variables. Ninety-three respondents of Japanese ancestry completed the questionnaire. Participants were more focused on the necessity of the prescribed psychotropics than on possible adverse effects. Married individuals (ß=-4.68 [95%CI -8.74, -0.63]; p = 0.024) were less concerned with their psychotropics than single individuals, while those undergoing treatment for longer years (ß = 6.23 [95%CI 1.35, 11.11]; p = 0.013) perceive a greater necessity for treatment than those who started it recently. In addition, older individuals perceived less necessity for treatment (ß=-5.83 [95%CI -10.76, -0.90]; p = 0.021) than younger individuals. Unemployed people (ß = 12.09 [95%CI 0.47, 23.70]; p = 0.042) perceived more depression-related stigma than those employed. Aspects of Japanese cultural heritage related to depression and its treatment are still prevalent among people of Japanese ancestry in Brazil. Factors such as age, treatment duration, and marital status affects the perception of beliefs about psychotropics, whereas occupation affects the perception of stigma.

Two names, one species: redescription and phylogenetic position of Schrankiana formosula Freitas, 1959 provides new insights into the evolutionary history of the Cosmocercidae.

Schrankiana are gastrointestinal parasites of anurans, distributed throughout Central and South America. Schrankiana formosula and Schrankiana inconspicata are some of the most commonly reported species parasitising anurans from Brazil, and the morphological differences between them are unclear. In the present study, we redescribed S. formosula based on a re-examination of type series and newly collected material from the frog Leptodactylus pentadactylus in the state of Amapá, Brazil. Additionally, we re-examined the type series of S. inconspicata, and propose it as a junior synonym of S. formosula. We provide detailed morphological and morphometric data with intraspecific variation analyses and new molecular data for S. formosula. In the present phylogeny, S. formosula formed a well-supported clade with Raillietnema sp. and Labeonema synodontisi. Based on molecular phylogenetic analyses and some morphological similarities, our findings support the hypothesis that Schrankiana is a member of the family Cosmocercidae, not Atractidae. Additionally, we provide the first ultrastructural descriptions of S. formosula, and establish the species' phylogenetic position from the Cosmocercidae.

Reckoning with COVID-19 denial: Brazil's exemplary model for global response.

In the aftermath of the coronavirus disease 2019 (COVID-19) pandemic in Brazil, accountability is crucial for those who denied the severity of the virus, spreading false information and causing harm. Some individuals have already faced legal proceedings against them, revealing economic motivations behind their actions. It is equally important to hold doctors accountable for prescribing ineffective treatments, putting the population at risk. The leaders of the denial movement and the federal government, who mishandled the pandemic, should be held accountable for the high death toll. Seeking justice from the legislative and executive branches is necessary, along with exemplary measures for those who spread misinformation about COVID-19.

Spinocerebellar Ataxia in Brazil: A Comprehensive Genotype - Phenotype Analysis.

Spinocerebellar ataxias (SCAs) are a diverse group of hereditary neurodegenerative disorders characterized by progressive degeneration of the cerebellum and other parts of the nervous system. In this study, we examined the genotype‒phenotype correlations in SCAs within the Brazilian population by leveraging a comprehensive dataset of 763 individuals from SARAH Network of Rehabilitation Hospitals. Using a retrospective, cross-sectional, observational, multicentric approach, we analysed medical records and conducted standardized molecular testing to explore epidemiological characteristics, clinical manifestations, and genetic profiles of SCAs in Brazil. Our findings revealed the predominance of SCA3, followed by SCA7 and SCA2, which aligns with global trends and reflects the specific genetic landscape of Brazil. A significant inverse relationship between the age of symptom onset and CAG repeat length in the mutated allele was observed across SCAs 2, 3, and 7. This study also highlights a trend towards paternal inheritance in SCA2 and details the distribution of CAG repeat expansions, which correlates larger expansions with earlier onset and specific symptomatology. This extensive analysis underscores the critical importance of genetic testing in the diagnosis and management of SCAs and enlightens the intricate genotype‒phenotype interplay within a genetically diverse population. Despite certain limitations, such as potential selection bias and the retrospective nature of the study, our research provides invaluable insights into the prevalence, genetic underpinnings, and clinical variability of SCAs in Brazil. We suggest a broader demographic scope and investigations into nonmotor symptoms in future studies to obtain a more comprehensive understanding of SCAs.

Revision of the Neotropical Genus Solepyris Azevedo (Hymenoptera, Bethylidae).

The bethylid genus Solepyris Azevedo (Scleroderminae) is studied and revised. Five species are recognized, including three previously described ones: †S. electromexicanus Brazidec and Perrichot, S. montuosus Azevedo, and S. unicus Azevedo. Additionally, two new species are described and illustrated: S. maleku sp. nov. from Costa Rica and S. pataxo sp. nov. from Brazil. An emended diagnosis and a detailed discussion regarding the morphological diagnostic characters of this genus are also presented. A taxonomic key for all species is provided.

Building a National Policy for Rare Disease in Brazil.

Rare diseases (RD) are individually rare, although encompass a significant proportion of the population, affecting not only the individuals but also their families. In Brazil RD is defined by the Ministry of Health as a disorder that affects up to 65 individuals in 100,000, or 1.3 individuals in every 2,000. In this review the environment that led to the publication of a National Policy for Comprehensive Care for People of Rare Disease in 2014, a national plan with the aim to decrease morbidity and mortality of RD, improving the care of people with RD in the public health system are described. The process that finally led to such policy took over a decade, moving forward not only due to technical needs, but having patient organizations as essential actors and advocates. Specialized centers in RD were licensed and, since its publication, 33 centers have been accredited; such process, however, has been slow and concentrated in specific regions and larger cities of the country. Despite the incorporation of genetic tests in 2014 and exome sequencing later in 2020, many genetic tests are not offered by specialized centers, with unequal availability across the country. Public health system in Brazil uses ICD-10 for disease coding, preventing appropriate epidemiologic knowledge of RD in Brazil. Incorporation of new technologies as orphan drugs has been in place and regulation for expedite licensing for new RD drugs were issued, although high cost and availability to RD population has been a challenge.

Comprehensive statistical analysis reveals significant benefits of COVID-19 vaccination in hospitalized patients: propensity score, covariate adjustment, and feature importance by permutation.

BACKGROUND: COVID-19 vaccines effectively prevent infection and hospitalization. However, few population-based studies have compared the clinical characteristics and outcomes of patients hospitalized for COVID-19 using advanced statistical methods. Our objective is to address this evidence gap by comparing vaccinated and unvaccinated patients hospitalized for COVID-19. METHODS: This retrospective cohort included adult COVID-19 patients admitted from March 2021 to August 2022 from 27 hospitals. Clinical characteristics, vaccination status, and outcomes were extracted from medical records. Vaccinated and unvaccinated patients were compared using propensity score analyses, calculated based on variables associated with vaccination status and/or outcomes, including waves. The vaccination effect was also assessed by covariate adjustment and feature importance by permutation. RESULTS: From the 3,188 patients, 1,963 (61.6%) were unvaccinated and 1,225 (38.4%) were fully vaccinated. Among these, 558 vaccinated individuals were matched with 558 unvaccinated ones. Vaccinated patients had lower rates of mortality (19.4% vs. 33.3%), invasive mechanical ventilation (IMV-18.3% vs. 34.6%), noninvasive mechanical ventilation (NIMV-10.6% vs. 22.0%), intensive care unit admission (ICU-32.0% vs. 44.1%) vasoactive drug use (21.1% vs. 32.6%), dialysis (8.2% vs. 14.7%) hospital length of stay (7.0 vs. 9.0 days), and thromboembolic events (3.9% vs.7.7%), p < 0.05 for all. Risk-adjusted multivariate analysis demonstrated a significant inverse association between vaccination and in-hospital mortality (adjusted odds ratio [aOR] = 0.42, 95% confidence interval [CI]: 0.31-0.56; p < 0.001) as well as IMV (aOR = 0.40, 95% CI: 0.30-0.53; p < 0.001). These results were consistent in all analyses, including feature importance by permutation. CONCLUSION: Vaccinated patients admitted to hospital with COVID-19 had significantly lower mortality and other severe outcomes than unvaccinated ones during the Delta and Omicron waves. These findings have important implications for public health strategies and support the critical importance of vaccination efforts, particularly in low-income countries, where vaccination coverage remains suboptimal.

A new southern Atlantic cryptic marine shrimp species of Acetes (Decapoda, Sergestidae).

A recently published molecular phylogenetic analysis, focusing on selected Western Atlantic subspecies of Acetesamericanus Ortmann, 1893 and allies, was inconclusive about relationships among these members. This previous study found three groups that split into two distinct lineages: Acetesamericanus (Brazil 1) (= A.americanus sensu stricto) and Acetesamericanus (Brazil 2) + A.americanus (USA). Combined morphometry and molecular analyses applied to members of the group Acetesamericanus (Brazil 2) revealed a new unidentified species genetically related to the A.americanus representatives. However, at that time, no conclusive morphological characters were found to identify it. In the present study, following an in-depth morphological analysis of specimens from the three groups, including data on the type series and consideration of the subtle distinctions of members of each lineage, morphological features of the reproductive structures (petasma and genital sternite) were found to characterize the new species, which is formally described and named herein.

The sicariid spiders in the state of Bahia, Brazil (Arachnida: Araneae).

Background: Sicariidae is a small family of cryptic and recluse spiders, with 178 species grouped into three genera: Hexophtalma, Loxosceles and Sicarius. Only the last two occur in Brazil, where 29 species are recorded, with a greater number of records in the Southeast and South regions. To date, there is no regionalized study of the distribution of these spiders in the Northeast of Brazil. We presented more than four decades of data on the distribution of sicariid spiders in the state of Bahia. Our research aimed to identify and evaluate the distribution of sicariid species in this region, characterizing them in their biomes and phytophysiognomies. Methods: Data covers a period from 1983 to 2024, obtained from articles describing species recorded in Bahia and from three scientific collections from Brazilian institutions: Universidade Federal da Bahia (MHNBA); Instituto Butantan (IBSP); Universidade Federal de Minas Gerais (UFMG). Maps were produced using the QGIS 3.34.1 software, based on geographic coordinates obtained from the original literature, when provided. Species without information on geographic coordinates were georeferenced using the SpeciesLink (geoLoc tool) for the municipalities. Biomes were consulted on the georeference Brazilian institute website and the phytophysiognomies were ignored when not specified in the data of collections or original literature. Results: We confirmed 14 species of sicariid spiders in the state of Bahia, eight from the genus Loxosceles (i) and six from Sicarius. The species were recorded in 48 municipalities, located mainly in the Caatinga biome. We recorded a distribution expansion of seven species: Loxosceles amazonica, L. chapadensis, L. karstica, L. similis, Sicarius cariri, S. ornatus and S. tropicus. There is a difference in species composition in the two regions separated by the São Francisco River, an important geographic barrier especially for small invertebrates. More than 75% of the species were registered in the east side and about 20% exclusively in the west side: L. boqueirao, L. cardosoi, L. carinhanha. This suggests the need for future studies to evaluate additional variables that determine community structure, especially considering their low vagility and reclusive behavior. Although Sicarius are found almost exclusively in the Caatinga, there are isolated records from Restinga and dry forest enclaves in the Cerrado domain and Atlantic Forest areas. This reinforces the possibility of them being able to adapt to slightly wetter environments erase colonize and survive in seasonally dry rainforest areas. Unlike Sicarius (i), Loxosceles (i) occupy a wide variety of habitats in natural, urban and domiciliary situations. Many of the records here such as for Loxosceles boqueirao, L. cardosoi, L. carinhanha, L. chapadensis, L. karstica and L. troglobia were obtained at caves or nearby areas, which appear to be attractive habitats for these nocturnal spiders.