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OBJECTIVES: The two oyster species studied hold considerable economic importance for artisanal harvest (Crassostrea rhizophorae) and aquaculture (Crassostrea gasar). Their draft genomes will play an important role in the application of genomic methods such as RNAseq, population-based genomic scans aiming at addressing expression responses to pollution stress, adaptation to salinity and temperature variation, and will also permit investigating the genetic bases and enable marker-assisted selection of economically important traits like shell and mantle coloration and resistance to temperature and disease. DATA DESCRIPTION: The draft assembly size of Crassostrea gasar is 506 Mbp, and of Crassostrea rhizophorae is 584 Mbp with scaffolds N50 of 11,3 Mbp and 4,9 Mbp, respectively. The general masked bases by RepeatMasker in both genomes were highly similar using different datasets. The masked bases varied from 9.41% in C. gasar to 10.05% in C. rhizophorae and 42.85% in C. gasar to 44.44% in C. rhizophorae using Dfam and RepeatModeler datasets, respectively. Functional annotation with eggNog resulted in 34,693 annotated proteins in C. rhizophorae and 26,328 in C. gasar. BUSCO analysis shows that almost 99% of genes (5,295) are complete in relation to the mollusk orthologous genes dataset (mollusca_odb10).

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BACKGROUND: The proportion of nitrogen (N) derived from the atmosphere (Ndfa) is a fundamental component of the plant N demand in legume species. To estimate the N benefit of grain legumes for the subsequent crop in the rotation, a simplified N balance is frequently used. This balance is calculated as the difference between fixed N and removed N by grains. The Ndfa needed to achieve a neutral N balance (hereafter θ ) is usually estimated through a simple linear regression model between Ndfa and N balance. This quantity is routinely estimated without accounting for the uncertainty in the estimate, which is needed to perform formal statistical inference about θ . In this article, we utilized a global database to describe the development of a novel Bayesian framework to quantify the uncertainty of θ . This study aimed to (i) develop a Bayesian framework to quantify the uncertainty of θ , and (ii) contrast the use of this Bayesian framework with the widely used delta and bootstrapping methods under different data availability scenarios. RESULTS: The delta method, bootstrapping, and Bayesian inference provided nearly equivalent numerical values when the range of values for Ndfa was thoroughly explored during data collection (e.g., 6-91%), and the number of observations was relatively high (e.g., ≥ 100 ). When the Ndfa tested was narrow and/or sample size was small, the delta method and bootstrapping provided confidence intervals containing biologically non-meaningful values (i.e. < 0% or > 100%). However, under a narrow Ndfa range and small sample size, the developed Bayesian inference framework obtained biologically meaningful values in the uncertainty estimation. CONCLUSION: In this study, we showed that the developed Bayesian framework was preferable under limited data conditions ─by using informative priors─ and when uncertainty estimation had to be constrained (regularized) to obtain meaningful inference. The presented Bayesian framework lays the foundation not only to conduct formal comparisons or hypothesis testing involving θ , but also to learn about its expected value, variance, and higher moments such as skewness and kurtosis under different agroecological and crop management conditions. This framework can also be transferred to estimate balances for other nutrients and/or field crops to gain knowledge on global crop nutrient balances.

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BACKGROUND: Pancreatic head cancer patients who undergo pancreatoduodenectomy (PD) often experience disease recurrence, frequently associated with a positive margin status (R1). Total mesopancreas excision (TMpE) has emerged as a potential approach to increase surgical radicality and minimize locoregional recurrence. However, its effectiveness and safety remain under evaluation. METHODS: We conducted a systematic review and meta-analysis to synthesize current evidence on TMpE outcomes. A systematic search of MEDLINE, EMBASE, Cochrane, and Web of Science databases was conducted up to March 2024 to identify studies comparing TMpE with standard pancreatoduodenectomy (sPD). The risk ratio (RR) or mean difference (MD) was pooled using a random effects model. RESULTS: From 452 studies identified, 9 studies with a total of 738 patients were included, with 361 (49%) undergoing TMpE. TMpE significantly improved the R0 resection rate (RR 1.24; 95% CI 1.11-1.38; P < 0.05), reduced blood loss (MD -143.70 ml; 95% CI -247.92, -39.49; P < 0.05), and increased lymph node harvest (MD 7.27 nodes; 95% CI 4.81, 9.73; P < 0.05). No significant differences were observed in hospital stay, postoperative complications, or mortality between TMpE and sPD. TMpE also significantly reduced overall recurrence (RR 0.53; 95% CI 0.35-0.81; P < 0.05) and local recurrence (RR 0.39; 95% CI 0.24-0.63; P < 0.05). Additionally, the risk of pancreatic fistula was lower in the TMpE group (RR 0.66; 95% CI 0.52-0.85; P < 0.05). CONCLUSION: Total mesopancreas excision significantly increases the R0 resection rate and reduces locoregional recurrence while maintaining an acceptable safety profile when compared with standard pancreatoduodenectomy. Further prospective randomized studies are warranted to determine the optimal surgical approach for total mesopancreatic resection.

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BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder with a wide clinical, cognitive, and behavioral expressivity. OBJECTIVE: To assess the neuropsychological profile of individuals clinically diagnosed with TSC and the factors that could significantly impact their cognitive development. METHODS: A total of 62 individuals with ages ranging from 3 to 38 years were followed up in a tertiary attention hospital in Southern Brazil, and they were assessed using a standard battery and the Vineland Adaptive Behavior Scales, when intellectual disability was observed. RESULTS: History of epilepsy was found in 56 participants (90.3%), and 31 (50%) presented an intellectual disability. Among the other half of TSC individuals without intellectual disability, 8 (12.9%) presented borderline classification, 20 (32.2%) presented average scores, and 3 (4.8%) were above average. In total, 17 participants (27.4%) fulfilled the diagnostic criteria for autism spectrum disorder. The results of the multiple linear regression analysis suggested that seizures, age at diagnosis, visual perception, and general attention significantly impact cognitive performance indexes. CONCLUSION: The present study suggests that the occurrence of epileptic seizures and older age at diagnosis contribute to higher impairment in the domains of cognitive development, underlining the importance of early diagnosis and the prevention of epileptic seizures or their rapid control. The development of attentional skills, visual perception, and executive functions must be followed up.

ANTECEDENTES: O complexo da esclerose tuberosa (CET) é uma doença genética autossômica dominante com ampla expressividade clínica, cognitiva e comportamental. OBJETIVO: Avaliar o perfil neuropsicológico de indivíduos com diagnóstico clínico de CET e os fatores que poderiam impactar significativamente o seu desenvolvimento cognitivo. MéTODOS: Ao todo, 62 indivíduos com idades entre 3 e 38 anos foram acompanhados em um hospital terciário do Sul do Brasil e avaliados por meio de uma bateria padrão e das Escalas de Comportamento Adaptativo Vineland, quando observada deficiência intelectual. RESULTADOS: Encontrou-se histórico de epilepsia em 56 participantes (90,3%) e de deficiência intelectual em 31 (50%). Quanto à outra metade dos indivíduos com CET sem deficiência intelectual, 8 (12,9%) apresentaram classificação limítrofe, 20 (32,2%) apresentaram pontuações médias e 3 (4,8%) estavam acima da média. No total, 17 participantes (27,4%) preenchiam os critérios diagnósticos para o transtorno do espectro autista. Os resultados da análise de regressão linear múltipla sugeriram que as crises epilépticas, a idade ao diagnóstico, a percepção visual e a atenção geral impactam significativamente os índices de desempenho cognitivo. CONCLUSãO: Este estudo sugere que a ocorrência de crises epilépticas e a maior idade ao diagnóstico contribuem para um maior comprometimento nos domínios do desenvolvimento cognitivo, e destaca-se a importância do diagnóstico precoce e da prevenção das crises epilépticas ou do seu rápido controle. O desenvolvimento de habilidades de atenção, percepção visual e funções executivas deve ser acompanhado.

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Introduction: COVID-19 is an infectious disease caused by SARS-CoV-2 that has become a serious threat to public health owing to its rapid spread from aerosols from infected people. Despite being considered a strictly human disease, there are reports in the literature about animals with confirmed presence of the virus. Aim: Owing to the scarcity of scientific literature on the potential for infection of animals and their importance for One Health, the objective of this work was to research SARS-CoV-2 RNA in felines (Felis silvestris catus) and dogs (Canis lupus familiaris) domiciled. Materials and Methods: Oropharyngeal swabs were collected from domestic dogs and cats belonging to patients diagnosed with COVID-19 from August to October 2021 and residents of the northwest and west regions of Paraná, Brazil. Results: Of the 34 samples collected, 14 were from dogs and 20 from cats. Three of these samples tested positive in real-time PCR, and two of them were also positive in the immunochromatographic test. After testing positive in real-time PCR, the samples underwent genetic sequencing using the Illumina COVIDSeq test. Of the 34 samples collected, three (9%), all of them female and from the feline species, tested positive in real-time PCR, with two of these (67%) also testing positive in the immunochromatographic test. Regarding sequencing, it was possible to sequence the three samples aligned with the AY.101 lineage, corresponding to the Delta variant. Conclusion: The occurrence of SARS-CoV-2 infection in dogs and cats is seen as an unintended event with significant implications for public health, including its potential transmission to other animal species. Further research is required to enhance our understanding of how this disease spreads among these animals and its broader impact on One Health initiatives.

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Low-pass whole genome sequencing (LP-WGS) has been applied as alternative method to detect copy number variants (CNVs) in the clinical setting. Compared with chromosomal microarray analysis (CMA), the sequencing-based approach provides a similar resolution of CNV detection at a lower cost. In this study, we assessed the efficiency and reliability of LP-WGS as a more affordable alternative to CMA. A total of 1363 patients with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorders, and/or multiple congenital anomalies were enrolled. Those patients were referred from 15 nonprofit organizations and university centers located in different states in Brazil. The analysis of LP-WGS at 1x coverage (>50kb) revealed a positive testing result in 22% of the cases (304/1363), in which 219 and 85 correspond to pathogenic/likely pathogenic (P/LP) CNVs and variants of uncertain significance (VUS), respectively. The 16% (219/1363) diagnostic yield observed in our cohort is comparable to the 15%-20% reported for CMA in the literature. The use of commercial software, as demonstrated in this study, simplifies the implementation of the test in clinical settings. Particularly for countries like Brazil, where the cost of CMA presents a substantial barrier to most of the population, LP-WGS emerges as a cost-effective alternative for investigating copy number changes in cytogenetics.

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The aim of this cross-sectional study was to investigate the associations between oral health-related quality of life (OHRQoL) and socioeconomic and demographic variables, suicidal ideation, self-perception of oral health, and experiences of dental care in the Brazilian adult LGBTIQ+ population. A sample of 464 participants completed self-administered online questionnaires and provided information for OHRQoL assessment, using the OHIP-14 instrument at three hierarchical levels of explanatory variables: LGBTIQ+ identities; socioeconomic and demographic data and existential suffering; and self-perception of oral health and experience of dental care. The collected data were fitted to hierarchical multiple logistic regression models, in which the associations between each independent variable with the OHIP-14 prevalence outcome were analyzed. The OHIP-14-prevalence index showed that 33.2% of the participants answered 'frequently' or 'always', and the highest frequencies were obtained for the psychological discomfort (27.8%), psychological disability (18.3%), and physical pain (17.5%) domains. According to the adjusted final model, LGBTIQ+ individuals who were more likely to have their OHRQoL affected were those who were indifferent (OR=3.21; 95% CI: 1.26-8.20), dissatisfied (OR=10.45; 95% CI: 3.86-28.26), or very dissatisfied (OR=53.93; 95% CI: 12.12-239.93) with their oral health status, and also those who had or have difficulty accessing dental treatment (OR=2.06; 95% CI: 1.24-3.41) (p<0.05). It may be concluded that the OHRQoL of the investigated Brazilian LGBTIQ+ population showed associations with individual aspects and with access to dental services.

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INTRODUCTION AND IMPORTANCE: Repairing massive rotator cuff tears (MRCTs) can often be technically challenging due to tendon retraction, bursal fibrosis, and muscular fatty infiltration that usually occurs, often resulting in poor outcomes and an unpredictable prognosis. Although some other surgical management options have been reported, there is a lack of literature supporting tendon transfers in the presence of combined anterior and posterior-superior irreparable rotator cuff tears. We describe a case where a combined transfer of the latissimus dorsi and lower trapezius tendons was employed to treat an MRCT affecting the anterior and posterior superior portions of the rotator cuff. CASE PRESENTATION: A 64-year-old male presented significant pain and limited range of motion in the right shoulder following a traumatic anterior shoulder dislocation seven months prior. MRI showed retracted tears (> 5 cm) of the supraspinatus, infraspinatus, and subscapularis tendons with significant fatty infiltration (Goutallier IV). The patient underwent an open transfer of the lower trapezius tendon to the greater tuberosity and the latissimus dorsi to the lesser tuberosity. At the final follow-up, 2.5 years postoperatively, the patient exhibited a painless functional range of motion and could resume daily activities. CLINICAL DISCUSSION: Although there are alternative surgical options available, the positive outcomes observed in the presented case may be attributed to the restoration of rotational strength and the re-establishment of force coupling across the shoulder. CONCLUSION: This report describes the successful implementation of a surgical treatment option for managing MRCT affecting the anterior and posterior superior portions of the rotator cuff.

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Many molecular mechanisms that lead to the host antibody response to COVID-19 vaccines remain largely unknown. In this study, we used serum antibody detection combined with whole blood RNA-based transcriptome analysis to investigate variability in vaccine response in healthy recipients of a booster (third) dose schedule of the mRNA BNT162b2 vaccine against COVID-19. The cohort was divided into two groups: (1) low-stable individuals, with antibody concentration anti-SARS-CoV IgG S1 below 0.4 percentile at 180 days after boosting vaccination; and (2) high-stable individuals, with antibody values greater than 0.6 percentile of the range in the same period (median 9525 [185-80,000] AU/mL). Differential gene expression, expressed single nucleotide variants and insertions/deletions, differential splicing events, and allelic imbalance were explored to broaden our understanding of the immune response sustenance. Our analysis revealed a differential expression of genes with immunological functions in individuals with low antibody titers, compared to those with higher antibody titers, underscoring the fundamental importance of the innate immune response for boosting immunity. Our findings also provide new insights into the determinants of the immune response variability to the SARS-CoV-2 mRNA vaccine booster, highlighting the significance of differential splicing regulatory mechanisms, mainly concerning HLA alleles, in delineating vaccine immunogenicity.

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BACKGROUND: Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous syndrome with variable phenotypes. Recent updates of TSC diagnostic criteria reaffirmed the defined genetic diagnostic criterion as the finding of a pathogenic DNA alteration in either TSC1 or TSC2 genes. It also slightly modified definite clinical diagnostic criteria. TSC-associated skin lesions in infancy are important clinical signs to select individuals with possible TSC for a closer clinical follow-up and genetic testing. OBJECTIVE: To raise awareness of the updated TSC diagnosis criteria; to assess the frequency of skin lesions in TSC patients as well as the first dermatological presentation; and to associate the findings with either TSC1 or TSC2 mutations. METHODS: Observational cross-sectional study. Clinical and genetic data were retrospectively collected from 37 TSC patients from a Brazilian University Hospital. Patients with skin signs were examined and prospectively assessed for 12 months. RESULTS: The earliest cutaneous lesions were hypomelanotic macules, which together with angiofibromas were the most frequent dermatological lesions. The total pathogenic DNA alteration ratio between TSC2 and TSC1 genes was 8:1. The frequency of a TSC2 pathogenic variant was 10-fold greater in the presence of ungual fibromas. STUDY LIMITATIONS: Small sample and a limited number of patients with TSC1 pathogenic variants. CONCLUSION: Clinicians should be knowledgeable about TSC updated diagnostic criteria. Patients need to be followed up by a multidisciplinary team and treated accordingly. Early detection of cutaneous lesions is important for TSC diagnosis. A significant association between TSC2 gene pathogenic alterations and ungual fibromas is described.

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Background: Clavicle fractures are among the most common upper limb fractures in adults, with the midshaft region being the most frequently affected site. Minimally invasive plate osteosynthesis (MIPO) has emerged as an alternative to the traditional open reduction and internal fixation (ORIF) technique, offering potential advantages. The purpose of this study was to conduct a systematic review to explore the results of this technique in the existing literature, with emphasis on the occurrence of surgical complications and functional outcomes and also to provide a comprehensive comparison of MIPO and ORIF in the management of midshaft clavicle fractures. Methods: We conducted a systematic review to evaluate the complication incidence and clinical outcomes of MIPO for midshaft clavicle fractures. We searched PubMed/Medical Literature Analysis and Retrieval System Online (MEDLINE), Scopus, the Cochrane Database of Controlled Trials, and the Cochrane Database of Systematic Reviews databases without language or date restrictions. Studies focusing on midshaft clavicle fractures treated with MIPO were included, while other clavicle fractures and nonclinical studies were excluded. The risk of bias was assessed using the Methodological Index for Nonrandomized Studies criteria and the Risk of Bias Tool 2 Cochrane tool. Data synthesis included qualitative analysis, and if applicable, quantitative analysis and meta-analysis. Adherence to Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines ensured reporting quality. Results: A total of 107 studies were initially identified, after applying inclusion and exclusion criteria, 22 studies were included for data extraction. These studies involved the evaluation of 714 clavicles treated with the MIPO technique. Of the 714 MIPO cases, 11 cases of implant failure, 5 nonunions, 2 infections, and 28 cases with neurological impairment were observed. Quantitative analysis comparing MIPO with ORIF revealed that MIPO had significantly shorter surgery time (mean difference -12.95, 95% confidence interval [-25.27 to -0.63], P = .04) and lower occurrence of numbness (odds ratio 0.29, 95% CI [0.15-0.56], P = .0002) compared to ORIF. Time to bone union, functional outcomes, and other complications were similar between MIPO and ORIF at the final follow-up. An overall moderate risk of bias was found across the studies. Conclusion: The MIPO technique yields good and comparable results to ORIF for midshaft clavicle fractures. Additionally, the MIPO technique may offer advantages such as reduced surgical time and lower chances of neurological impairment.

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Dentistry plays a significant role in the supportive care of hospitalized children in Pediatric Intensive Care Units (PICUs) as these patients arrive in this environment with altered immune systems and compromised oral health. This paper aims to present an integrative literature review on the role of dentists in the hospital setting, particularly in the PICU, and discuss the challenges encountered in this environment. A free search was conducted on the electronic platforms PubMed, Scientific Electronic Library Online (SciELO), Latin American and Caribbean Literature in Sciences (Lilacs), and Virtual Health Library (BVS) from January to February 2023, with no defined publication period and including all types of studies. Health Science descriptors (DeCS/MeSH) were used in English and Portuguese, applying Boolean operators. According to the data collected, among the conditions requiring admission to the PICU, respiratory disorders, heart and kidney failure, neurological disorders, severe metabolic diseases, infections, injuries, traumas, near-drowning incidents, and post-operative care after complex surgeries stand out. Dental care in this environment reduce hospitalization time, costs, and improve the quality of life of pediatric patients. However, the integration of these professionals into the PICU is still limited. Dentists in the hospital setting optimize multidisciplinary work through protocol-based measures derived from studies conducted in adult patients in intensive care units. Due to the lack of robust evidence related to oral care practices in pediatric intensive care settings, further research is mandatory. (AU)

A Odontologia tem um papel importante na assistência de crianças hospitalizadas nas Unidades de Terapia Intensiva Pediátricas (UTIP), pois esses pacientes chegam neste ambiente com o sistema imunológico alterado e a saúde bucal comprometida. Apresentar uma revisão integrativa da literatura sobre o papel do cirurgião-dentista no hospital, em especial, na UTIP, além de discutir os desafios encontrados nesse ambiente. Uma busca foi conduzida nas plataformas eletrônicas PubMed, Scientific Eletronic Library Online (SciElo), Latin American and Caribbean Literature in Sciences (Lilacs) e Biblioteca Virtual da Saúde (BVS), entre janeiro a fevereiro/2023, sem período definido de publicação e sob a inclusão de todos os tipos de estudos. Os descritores em Ciências da saúde (DeCS/MeSH) foram utilizados em inglês e português, sob aplicação dos operadoress booleanos. Segundo dados coletados, dentre as condições que necessitam de internação na UTIP, destaca-se as alterações respiratórias, insuficiência cardíaca e renal, alterações do sistema nervoso, doenças metabólicas graves, infecções, ferimentos, traumatismos, quase afogamentos e pós-operatório de cirurgias complexas. O cirurgião-dentista neste ambiente reduz o tempo de internação, os custos e aumenta a qualidade de vida dos pacientes pediátricos. Todavia, ainda é escassa a inserção deste profissional em UTIP. O cirurgião-dentista em ambiente hospitalar otimiza o trabalho multidisciplinar através de medidas baseadas em protocolos obtidos a partir de estudos em pacientes adultos em unidades de terapia intensivas. Devido a falta de evidências robustas relacionadas à prática de cuidados bucais no ambiente de cuidados intensivos pediátricos, a realização de pesquisas futuras torna-se mandatória. (AU)

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PURPOSE: The aim of this cross-sectional study was to investigate whether the characteristics of dental schools and the profiles of their deans were associated with curricular activities related to LGBTQ+ in Brazilian dental schools. METHODS: A survey was mailed to the deans of all Brazilian dental schools for the purpose of assessing the development of pedagogical activities focused on the topic of oral health of the LGBTQ+ population, and the characteristics of the institutions and profiles of their deans. The data collected were analyzed with hierarchical multiple logistic regression models in order to analyze associations between variables of interest. RESULTS: Of the deans approached, 156 (response rate of approximately 32.4%) completed and returned the survey. The majority of dental schools (67.3%) of the sample were private institutions and 39% of them developed pedagogical activities directed toward the LGBTQ+. This percentage was much lower in public institutions (18%). The results of the hierarchical multiple logistic regression demonstrated that deans who attributed high relevance to the theme "oral health of the LGBTQ+ population" were more likely to develop pedagogical activities directed toward the LGBTQ+ population (odds ratio = 4.74; 95% confidence interval: 1.65-13.48), than those who attributed low or little importance to this topic (p < 0.05). CONCLUSION: A low percentage of activities aimed at the LGBTQ+ population was observed in the sample of Brazilian dental schools. Deans must be aware of the importance of the topic and be motivated to implement pedagogical activities for this population.

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INTRODUCTION: Next generation sequencing technology has greatly reduced the cost and time required for sequencing a genome. An approach that is rapidly being adopted as an alternative method for CNV analysis is the low-pass whole genome sequencing (LP-WGS). Here, we evaluated the performance of LP-WGS to detect copy number variants (CNVs) in clinical cytogenetics. MATERIALS AND METHODS: DNA samples with known CNVs detected by chromosomal microarray analyses (CMA) were selected for comparison and used as positive controls; our panel included 44 DNA samples (12 prenatal and 32 postnatal), comprising a total of 55 chromosome imbalances. The selected cases were chosen to provide a wide range of clinically relevant CNVs, the vast majority being associated with intellectual disability or recognizable syndromes. The chromosome imbalances ranged in size from 75 kb to 90.3 Mb, including aneuploidies and two cases of mosaicism. RESULTS: All CNVs were successfully detected by LP-WGS, showing a high level of consistency and robust performance of the sequencing method. Notably, the size of chromosome imbalances detected by CMA and LP-WGS were compatible between the two different platforms, which indicates that the resolution and sensitivity of the LP-WGS approach are at least similar to those provided by CMA. DISCUSSION: Our data show the potential use of LP-WGS to detect CNVs in clinical diagnosis and confirm the method as an alternative for chromosome imbalances detection. The diagnostic effectiveness and feasibility of LP-WGS, in this technical validation study, were evidenced by a clinically representative dataset of CNVs that allowed a systematic assessment of the detection power and the accuracy of the sequencing approach. Further, since the software used in this study is commercially available, the method can easily be tested and implemented in a routine diagnostic setting.

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BACKGROUND: Rosacea is a chronic inflammatory dermatosis characterized by remissions and flares. Although the rosacea active treatment phase is well established, the long-term maintenance phase is still challenging. OBJECTIVE: To discuss and make recommendations on how to treat patients during the long-term maintenance phase for the main rosacea phenotypes. METHODS: A panel of six board-certified Brazilian dermatologists and one American dermatologist gathered to compose a consensus based upon an initial statement on how to treat rosacea during the long-term maintenance phase based on the methodology Nominal Group Technique. The experts discussed each factor based upon an initial statement on how to treat rosacea patients in the long-term maintenance phase. A sequence of comprehensive narrative reviews was performed; a questionnaire preparation about the definition of the maintenance phase and its management was presented; an interpersonal discussion and ranking of the ideas were conducted. Recommendations were made if the specialists had 75% agreement. RESULTS: The maintenance treatment phase, which starts by achieving IGA 0 or 1 grades at the active phase, should be considered at least during the 9-month period after remission. The recommendations of all treatments target this period. Daily skincare regimen and sunscreen are crucial. Active treatment phase should be recommended if signs or symptoms reappear or worsen. CONCLUSION: Maintenance phase success depends on patient's adherence to daily skin care, appropriate treatments, continued follow-up with dermatologist, and self-assessment to identify new signs and symptoms indicating disease relapse.

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Abstract The aim of this cross-sectional study was to investigate the associations between oral health-related quality of life (OHRQoL) and socioeconomic and demographic variables, suicidal ideation, self-perception of oral health, and experiences of dental care in the Brazilian adult LGBTIQ+ population. A sample of 464 participants completed self-administered online questionnaires and provided information for OHRQoL assessment, using the OHIP-14 instrument at three hierarchical levels of explanatory variables: LGBTIQ+ identities; socioeconomic and demographic data and existential suffering; and self-perception of oral health and experience of dental care. The collected data were fitted to hierarchical multiple logistic regression models, in which the associations between each independent variable with the OHIP-14 prevalence outcome were analyzed. The OHIP-14-prevalence index showed that 33.2% of the participants answered 'frequently' or 'always', and the highest frequencies were obtained for the psychological discomfort (27.8%), psychological disability (18.3%), and physical pain (17.5%) domains. According to the adjusted final model, LGBTIQ+ individuals who were more likely to have their OHRQoL affected were those who were indifferent (OR=3.21; 95% CI: 1.26-8.20), dissatisfied (OR=10.45; 95% CI: 3.86-28.26), or very dissatisfied (OR=53.93; 95% CI: 12.12-239.93) with their oral health status, and also those who had or have difficulty accessing dental treatment (OR=2.06; 95% CI: 1.24-3.41) (p<0.05). It may be concluded that the OHRQoL of the investigated Brazilian LGBTIQ+ population showed associations with individual aspects and with access to dental services.

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Resumo O presente estudo, um ensaio teórico, teve como objetivo analisar o papel e o potencial da cavidade bucal junto à pluralidade corpórea das identidades LGBTQIA+. Para tal, guiado por um percurso dialético, dois percursos bucais foram discernidos: um disciplinarizado pelos preceitos de uma hegemonia cristã, machista e cissexista; e o outro sob caráter de superação, questionando a unicidade da cisheteronorma. Por fim, com base nas premissas apresentadas, o território bucal, a partir de então, torna-se um possível caminho para se compreender o percurso histórico-social das identidades LGBTQIA+ - afinal, boca é corpo, e como todas as demais formas da corporeidade, guia-se pelas normatizações socialmente construídas com as quais tecemos nossa existência.

Abstract This study, a theoretical essay, aimed to analyze the role and potential of the oral cavity in the corporeal plurality of LGBTQIA+ identities. Thus, dialectically guided, two oral pathways were evidenced: the first disciplined by the precepts of a Christian, sexist, and cissexist hegemony; the other questioning the unison character of cisheteronormativity. Finally, based on the premises presented, the oral territory, from then on, becomes a possible way to understand the historical-social path of LGBTQIA+ identities - after all, the mouth is body, like all other forms of corporeality, guided by socially constructed norms which we weave our existence.

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Abstract Background Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder with a wide clinical, cognitive, and behavioral expressivity. Objective To assess the neuropsychological profile of individuals clinically diagnosed with TSC and the factors that could significantly impact their cognitive development. Methods A total of 62 individuals with ages ranging from 3 to 38 years were followed up in a tertiary attention hospital in Southern Brazil, and they were assessed using a standard battery and the Vineland Adaptive Behavior Scales, when intellectual disability was observed. Results History of epilepsy was found in 56 participants (90.3%), and 31 (50%) presented an intellectual disability. Among the other half of TSC individuals without intellectual disability, 8 (12.9%) presented borderline classification, 20 (32.2%) presented average scores, and 3 (4.8%) were above average. In total, 17 participants (27.4%) fulfilled the diagnostic criteria for autism spectrum disorder. The results of the multiple linear regression analysis suggested that seizures, age at diagnosis, visual perception, and general attention significantly impact cognitive performance indexes. Conclusion The present study suggests that the occurrence of epileptic seizures and older age at diagnosis contribute to higher impairment in the domains of cognitive development, underlining the importance of early diagnosis and the prevention of epileptic seizures or their rapid control. The development of attentional skills, visual perception, and executive functions must be followed up.

Resumo Antecedentes O complexo da esclerose tuberosa (CET) é uma doença genética autossômica dominante com ampla expressividade clínica, cognitiva e comportamental. Objetivo Avaliar o perfil neuropsicológico de indivíduos com diagnóstico clínico de CET e os fatores que poderiam impactar significativamente o seu desenvolvimento cognitivo. Métodos Ao todo, 62 indivíduos com idades entre 3 e 38 anos foram acompanhados em um hospital terciário do Sul do Brasil e avaliados por meio de uma bateria padrão e das Escalas de Comportamento Adaptativo Vineland, quando observada deficiência intelectual. Resultados Encontrou-se histórico de epilepsia em 56 participantes (90,3%) e de deficiência intelectual em 31 (50%). Quanto à outra metade dos indivíduos com CET sem deficiência intelectual, 8 (12,9%) apresentaram classificação limítrofe, 20 (32,2%) apresentaram pontuações médias e 3 (4,8%) estavam acima da média. No total, 17 participantes (27,4%) preenchiam os critérios diagnósticos para o transtorno do espectro autista. Os resultados da análise de regressão linear múltipla sugeriram que as crises epilépticas, a idade ao diagnóstico, a percepção visual e a atenção geral impactam significativamente os índices de desempenho cognitivo. Conclusão Este estudo sugere que a ocorrência de crises epilépticas e a maior idade ao diagnóstico contribuem para um maior comprometimento nos domínios do desenvolvimento cognitivo, e destaca-se a importância do diagnóstico precoce e da prevenção das crises epilépticas ou do seu rápido controle. O desenvolvimento de habilidades de atenção, percepção visual e funções executivas deve ser acompanhado.

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Homologous recombination deficiency (HRD) has become an important prognostic and predictive biomarker for patients with high-grade serous ovarian cancer who may benefit from poly-ADP ribose polymerase inhibitors (PARPi) and platinum-based therapies. HRD testing provides relevant information to personalize patients' treatment options and has been progressively incorporated into diagnostic laboratories. Here, we assessed the performance of an in-house HRD testing system deployable in a diagnostic clinical setting, comparing results from two commercially available next-generation sequencing (NGS)-based tumor tests (SOPHiA DDMTM HRD Solution and AmoyDx® (HRD Focus Panel)) with the reference assay from Myriad MyChoice® (CDx). A total of 85 ovarian cancer samples were subject to HRD testing. An overall strong correlation was observed across the three assays evaluated, regardless of the different underlying methods employed to assess genomic instability, with the highest pairwise correlation between Myriad and SOPHiA (R = 0.87, p-value = 3.39 × 10-19). The comparison of the assigned HRD status to the reference Myriad's test revealed a positive predictive value (PPV) and negative predictive value (NPV) of 90.9% and 96.3% for SOPHiA's test, while AmoyDx's test achieved 75% PPV and 100% NPV. This is the largest HRD testing evaluation using different methodologies and provides a clear picture of the robustness of NGS-based tests currently offered in the market. Our data shows that the implementation of in-house HRD testing in diagnostic laboratories is technically feasible and can be reliably performed with commercial assays. Also, the turnaround time is compatible with clinical needs, making it an ideal alternative to offer to a broader number of patients while maintaining high-quality standards at more accessible price tiers.

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Cystatin C (CyC), a secreted cysteine protease inhibitor, has unclear biological functions. Many patients exhibit elevated plasma CyC levels, particularly during glucocorticoid (GC) treatment. This study links GCs with CyC's systemic regulation by utilizing genome-wide association and structural equation modeling to determine CyC production genetics in the UK Biobank. Both CyC production and a polygenic score (PGS) capturing predisposition to CyC production were associated with increased all-cause and cancer-specific mortality. We found that the GC receptor directly targets CyC, leading to GC-responsive CyC secretion in macrophages and cancer cells. CyC-knockout tumors displayed significantly reduced growth and diminished recruitment of TREM2+ macrophages, which have been connected to cancer immunotherapy failure. Furthermore, the CyC-production PGS predicted checkpoint immunotherapy failure in 685 patients with metastatic cancer from combined clinical trial cohorts. In conclusion, CyC may act as a GC effector pathway via TREM2+ macrophage recruitment and may be a potential target for combination cancer immunotherapy.