Molecular Profile of Variants Potentially Associated with Severe Forms of COVID-19 in Amazonian Indigenous Populations.

Coronavirus disease 2019 (COVID-19) is an infection caused by SARS-CoV-2. Genome-wide association studies (GWASs) have suggested a strong association of genetic factors with the severity of the disease. However, many of these studies have been completed in European populations, and little is known about the genetic variability of indigenous peoples' underlying infection by SARS-CoV-2. The objective of the study is to investigate genetic variants present in the genes AQP3, ARHGAP27, ELF5L, IFNAR2, LIMD1, OAS1 and UPK1A, selected due to their association with the severity of COVID-19, in a sample of indigenous people from the Brazilian Amazon in order to describe potential new and already studied variants. We performed the complete sequencing of the exome of 64 healthy indigenous people from the Brazilian Amazon. The allele frequency data of the population were compared with data from other continental populations. A total of 66 variants present in the seven genes studied were identified, including a variant with a high impact on the ARHGAP27 gene (rs201721078) and three new variants located in the Amazon Indigenous populations (INDG) present in the AQP3, IFNAR2 and LIMD1 genes, with low, moderate and modifier impact, respectively.

Breast Cancer: Clinical-Epidemiological Profile and Toxicities of Women Receiving Treatment with Taxanes in the Amazon Region.

Breast cancer is the most common malignant disease and the leading cause of mortality among women worldwide. Antineoplastic chemotherapy is one of its primary treatments, typically based on the class of drugs known as taxanes. Despite their proven therapeutic efficacy, these drugs can induce severe toxicities, leading to dose limitations or even treatment discontinuation. The objective of this study was to describe the clinical-epidemiological profile, risk factors, and toxicities of taxane-based chemotherapy treatment in women with breast cancer in the Amazon region. This is a cross-sectional, quantitative, and descriptive study conducted with 300 women diagnosed with breast cancer undergoing taxane treatment. Most patients were in the 40-49 age range, of brown ethnicity, and had completed elementary school. The majority of patients had risk factors such as alcoholism and a sedentary lifestyles. Most women had their first pregnancy between the ages of 18 and 21, breastfed their children, had menarche between the ages of 12 and 13, and were pre-menopausal and with a family history of cancer. The most frequent histological type was non-special invasive carcinoma and the Luminal B subtype. Most participants in this study showed taxane toxicity, with neurotoxicity being the most frequent. These findings reveal the importance of early detection, comprehensive risk factors, and effective management of treatment toxicities to improve patient outcomes in breast cancer care in the Amazon region.

Molecular Profile of Variants in CDH1, TP53, PSCA, PRKAA1, and TTN Genes Related to Gastric Cancer Susceptibility in Amazonian Indigenous Populations.

Gastric Cancer is a disease associated with environmental and genetic changes, becoming one of the most prevalent cancers around the world and with a high incidence in Brazil. However, despite being a highly studied neoplastic type, few efforts are aimed at populations with a unique background and genetic profile, such as the indigenous peoples of the Brazilian Amazon. Our study characterized the molecular profile of five genes associated with the risk of developing gastric cancer by sequencing the complete exome of 64 indigenous individuals belonging to 12 different indigenous populations in the Amazon. The analysis of the five genes found a total of 207 variants, of which 15 are new in our indigenous population, and among these are two with predicted high impact, present in the TTN and CDH1 genes. In addition, at least 20 variants showed a significant difference in the indigenous population in comparison with other world populations, and three are already associatively related to some type of cancer. Our study reaffirms the unique genetic profile of the indigenous population of the Brazilian Amazon and allows us to contribute to the conception of early diagnosis of complex diseases such as cancer, improving the quality of life of individuals potentially suffering from the disease.

The Genomic Profile Associated with Risk of Severe Forms of COVID-19 in Amazonian Native American Populations.

Genetic factors associated with COVID-19 disease outcomes are poorly understood. This study aimed to associate genetic variants in the SLC6A20, LZTFL1, CCR9, FYCO1, CXCR6, XCR1, and ABO genes with the risk of severe forms of COVID-19 in Amazonian Native Americans, and to compare the frequencies with continental populations. The study population was composed of 64 Amerindians from the Amazon region of northern Brazil. The difference in frequencies between the populations was analyzed using Fisher's exact test, and the results were significant when p ≤ 0.05. We investigated 64 polymorphisms in 7 genes; we studied 47 genetic variants that were new or had impact predictions of high, moderate, or modifier. We identified 15 polymorphisms with moderate impact prediction in 4 genes (ABO, CXCR6, FYCO1, and SLC6A20). Among the variants analyzed, 18 showed significant differences in allele frequency in the NAM population when compared to others. We reported two new genetic variants with modifier impact in the Amazonian population that could be studied to validate the possible associations with COVID-19 outcomes. The genomic profile of Amazonian Native Americans may be associated with protection from severe forms of COVID-19. This work provides genomic data that may help forthcoming studies to improve COVID-19 outcomes.

Cutaneous metastasis of a hypopharyngeal squamous cell carcinoma-unusual presentation.

Cutaneous metastasis are uncommon and account for only 2% of all skin cancers, but are extremely rare in hypopharyngeal carcinomas. Although often associated with advanced cancer, cutaneous metastasis can be the first indication of relapse or treatment failure. Additionally, the clinical presentation is widely variable, which can make an early diagnosis difficult. New skin lesions should be evaluated in cancer patients to rule out metastases. Herein, we present a patient with an unusual cutaneous metastasis as the first sign of recurrence of a hypopharyngeal carcinoma.

Asymptomatic Hyperinsulinaemic Hypoglycaemia.

Hypoglycaemia is rare in apparently well patients without drug-treated diabetes mellitus and warrants evaluation and management when Whipple's triad is present. Even in the absence of Whipple's triad, when repeatedly low values of plasma glucose are documented, the presence of endogenous hyperinsulinism should be investigated. The authors describe a case of endogenous hypoglycaemic hyperinsulinism, its diagnosis and treatment and the challenges of determining its aetiology. LEARNING POINTS: A high degree of suspicion is necessary when a hospitalized, apparently well, patient presents with episodes of hypoglycaemia with no apparent cause.Documented repeated low glucose values (<40-55 mg/dl) warrant investigation even when Whipple's triad is absent.The diagnosis, approach and treatment of endogenous hypoglycaemic hyperinsulinism is challenging and requires persistence, particularly if examinations fail to show the responsible lesion.

Users' Perceptions of Signage Systems at Three Portuguese Hospitals.

This article is a report on the quantitative data collected from patients, family members, and visitors using the outpatient areas of three hospitals in Portugal. It details the users' views regarding the existing signage and presents suggestions to improve the design and implementation of the signage systems. A questionnaire was used with 1,287 respondents. The results showed that almost all users had a positive opinion regarding the current signage. However, some of the users' answers and observed behaviors indicated that the majority tended to ignore the signs and preferred to ask staff for help. Additionally, when asked for suggestions, many of the respondents were able to point out existing problems that affected their wayfinding. Although the signage was generally evaluated as good, many of the users perceived a variety of problems and, as already mentioned, asked the staff for directions, which results in lost time and hidden costs for the institutions.

Healthcare Signage Design: A Review on Recommendations for Effective Signing Systems.

This article provides a set of recommendations, selected from the systematic literature review carried out, regarding signage systems for healthcare institutions that can be used for designing or redesigning more competent signage systems. The signage systems in healthcare settings are usually poorly designed due to the expansion of the original facilities, a lack of awareness of existing guidelines by the developers, and a lack of agreement between the existing recommendations. There are several guidelines and recommendations available in the literature; however, each work was developed for specific cultural contexts, so there is a lack of uniformity among them. Hence, there is a need to uniformize the guidelines for signage design in healthcare, in order to provide supportive information for developers to build and implement effective and efficient signage systems. This study examined the available literature on the subject and established a set of guidelines organized in categories to help the design process. A literature review was conducted, and 34 selected publications were analyzed from which recommendations were created. A best practices manual was also studied and used as the analytical framework to establish the design categories of the developed recommendations. This review resulted in guidelines divided into nine design categories that should be considered in the design and implementation process of signage systems in healthcare facilities.

With a little help from DNA barcoding: investigating the diversity of Gastropoda from the Portuguese coast.

The Gastropoda is one of the best studied classes of marine invertebrates. Yet, most species have been delimited based on morphology only. The application of DNA barcodes has shown to be greatly useful to help delimiting species. Therefore, sequences of the cytochrome c oxidase I gene from 108 specimens of 34 morpho-species were used to investigate the molecular diversity within the gastropods from the Portuguese coast. To the above dataset, we added available COI-5P sequences of taxonomically close species, in a total of 58 morpho-species examined. There was a good match between ours and sequences from independent studies, in public repositories. We found 32 concordant (91.4%) out of the 35 Barcode Index Numbers (BINs) generated from our sequences. The application of a ranking system to the barcodes yield over 70% with top taxonomic congruence, while 14.2% of the species barcodes had insufficient data. In the majority of the cases, there was a good concordance between morphological identification and DNA barcodes. Nonetheless, the discordance between morphological and molecular data is a reminder that even the comparatively well-known European marine gastropods can benefit from being probed using the DNA barcode approach. Discordant cases should be reviewed with more integrative studies.

Prevalência de heterozigotos para hemoglobinopatias em estudantes universitários do Ceará / The prevalence of heterozygotes for hemoglobinopathies among undergraduate students of Ceará

As hemoglobinopatias são doenças genéticas freqüentes que apresentam morbidade significativa em todomundo. A detecção de heterozigotos AS e AC é extremamente importante para a saúde pública, uma vez que essesindivíduos podem originar indivíduos homozigotos SS ou duplos heterozigotos SC. O presente estudo teve como objetivo determinar a prevalência de heterozigotos para hemoglobinopatias em estudantes universitários do Ceará e, em seguida, encaminhá-los para um profissional habilitado em aconselhamento genético. Do total de 235 amostras analisadas, 229(97,5%) apresentaram perfil hemoglobínico normal (Hb AA), enquanto que em 6 (2,5%) foram identificadas hemoglobinas anormais. Destas, 5 (2,1%) apresentaram traços de hemoglobina S (heterozigose AS) e 1 (0,4%) amostra apresentou traços de hemoglobina C (heterozigose AC). A triagem de hemoglobina é importante para a prevenção de hemoglobinopatias, principalmente para os indivíduos que não foram beneficiados com a Portaria n° 822/01 do Ministério da Saúde que incluiu as hemoglobinopatias no Programa Nacional deTriagem Neonatal e, portanto, desconhecem o fato deserem portadores assintomáticos.

Hemoglobinopathies are quite common genetic diseases which present significant morbity worldwide. Theearly detection of AS and AC heterozygotes among prospective couples is of extreme importance in Health Public Policy making, since those individuals may give birth to homozygotes SS or double-heterozygotes, SC. This study aims todetermine the prevalence of heterozygotes for hemoglobinopathies among undergraduate students of Ceará and then direct them to genetic counseling. Of the 235 samples analyzed, 229 (97.5%) had a normal hemoglobinic profile (Hb AA), while 6(2.5%) had abnormal hemoglobin. From the former, 5 (2.1%) samples presented traces of Hemoglobin S (AS heterozygose), and only 1 (0.4%) hemoglobin C (AC heterozygose). Hemoglobin tracing is a vitally important public health policy in the prevention of hemoglobinopathies, especially among individuals who have not benefited from the Brazilian Ministry of Health Directive # 822/01, which includes hemoglobinopathies in the National Neonatal Screening Program consequently they are unaware of being asymptomatic carriers.

Histochemical and ultrastructural characterization of the posterior esophagus of Bulla striata (Mollusca, Opisthobranchia).

The posterior esophagus of Bulla striata, running from the gizzard to the stomach, was investigated with light and electron microscopy to obtain new data for a comparative analysis of the digestive system in cephalaspidean opisthobranchs. In this species, the posterior esophagus can be divided into two regions. In the first, the epithelium is formed by columnar cells with apical microvilli embedded in a cuticle. Many epithelial and subepithelial secretory cells are present in this region. In both, electron-lucent secretory vesicles containing filaments and a peripheral round mass of secretory material fill the cytoplasm. These acid mucus-secreting cells may also contain a few dense secretory vesicles. In the second part of the posterior esophagus, the cuticle is absent and the epithelium is ciliated. In this region, epithelial cells may contain larger lipid droplets and glycogen reserves. Subepithelial secretory cells are not present, and in epithelial secretory cells the number of dense vesicles increases, but most secretory cells still contain some electron-lucent vesicles. These cells secrete a mixture of proteins and acid polysaccharides and should be considered seromucous. The secretory cells of the posterior esophagus are significantly different from those previously reported in the anterior esophagus of this herbivorous species.

Light and electron microscopy study of the salivary glands of the carnivorous opisthobranch Philinopsis depicta (Mollusca, Gastropoda).

Cephalaspideans are a group of opisthobranch gastropods that comprises carnivorous and herbivorous species, allowing an investigation of the relationship between these diets and the morphofunctional features of the salivary glands. In this study, the salivary glands of the carnivorous cephalaspidean Philinopsis depicta were observed by light and electron microscopy. The secretory epithelium of these ribbon-shaped glands is formed by ciliated cells, granular cells and cells with apical vacuole. In ciliated cells the nucleus and most cytoplasmic organelles are located in the wider apical region and a very thin stalk reaches the base of the epithelium. These cells possess significant amounts of glycogen. Granular cells are packed with electron-dense secretory granules and also contain several cisternae of rough endoplasmic reticulum and Golgi stacks. The other type of secretory cell is mainly characterized by the presence of a large apical vacuole containing secretion. These cells possess high amounts of rough endoplasmic reticulum cisternae and several Golgi stacks. Vesicles with peripheral electron-dense material are also abundant, and seem to fuse to form the apical vacuole. The available data point out to a significant difference between the salivary glands of carnivorous and herbivorous cephalaspidean opisthobranchs, with an intensification of protein secretion in carnivorous species.

Uma prática de cuidado investigativa à gestante HIV-soropositivo orientada pela teoria de Parse / Investigative care practice of HIV-positive pregnant women according Parse's theory

Trata-se de um estudo de natureza qualitativa que teve como objetivo desenvolver uma prática de cuidado investigativa direcionada à gestante HIV-soropositivo orientada pela teoria de Rosemarie Parse. O estudo foi desenvolvido numa Maternidade de Florianópolis, SC, Brasil, e teve como população alvo quatro gestantes HIVsoropositivo em acompanhamento pré-natal. O referencial teórico foi operacionalizado através do processo de enfermagem focalizando três dimensões: esclarecendo significado, sincronizando ritmo e mobilizando a transcendência. A obtenção dos dados deu-se através de entrevista e observação. Os resultados revelam um modo inovador de cuidar, propiciando vislumbrar as gestantes HIV-soropositivo de forma holística, promovendo sua evolução como ser humano.

[Investigative care practice of HIV-positive pregnant women according Parse's theory]. / Uma prática de cuidado investigativa à gestante HIV- soropositivo orientada pela teoria de Parse.

This is a qualitative study aimed developing an investigative care practice of HIV-positive pregnant woman based on Rosemarie Parse's theory. The study was carried out at a Maternity Ward in Florianópolis, Santa Catarina, Brazil. Its target population included four HIV-positive pregnant women under pre-natal care. The theoretical foundation was applied to the nursing process, taking into account three dimensions: clarifying meaning, synchronizing rhythm, and mobilizing transcendence. Data were collected using interviews and patient observation. The results reveal an innovative method of providing care to HIV-positive pregnant women holistically, thereby, promoting their evolution as human beings.

Cuidando da mulher gestante com HIVfundamentado na teoria d e Parse: um novo referencial para a prática da enfermagem

Diante da feminização da epidemia do HI V/AIDS, justifica-s e a necessidade de aprofundament o do conhecimento em busca de novas possibilidades do cuidado à mulher gestantecom HIV para melhor compreensão deste ser. Trata-se de um estudo qualitativo, onde buscou-secuidar de mulheres gestantes com HIV, orientado por um referencial teórico. Este foi construído à partir de idéias da própria autora, fundam entado na Teoria de Rosemere Rizzo Parse. Os conceitosutilizados foram: ser humano-ambiente-família, saúde, enfermagem, e profissionais de saúde. Aimplementação do referencial teórico aconteceu no serviço de ambulatório de referência para gestantes com HIV, da Maternidade Carmela Dutra, localizada no município de Florianópolis-SC. Apopulação alvo deste estudo constituiu-se de quatro gestantes em controle pré-natal no referido serviço....