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Diversity of Creptotrema was investigated using morphological and molecular tools, including data for Creptotrema creptotrema (type-species). Three new species, parasites of Brazilian fishes, are described: Creptotrema conconae n. sp. (type-host, Imparfinis mirini Haseman), Creptotrema schubarti n. sp. (type-host, Characidium schubarti Travassos) and Creptotrema megacetabularis n. sp. (type-host, Auchenipterus osteomystax (Miranda Ribeiro)). The diagnosis of the genus was amended to include new features. The new species differ from each other mainly in terms of body shape, relative sucker size, and testes position. DNA sequences were obtained from Creptotrema spp. from Brazil, including 28S, ITS and COI. Genetic divergences among the new species and C. creptotrema varied from 2.1 to 5.2% (21–49 bp) for 28S, and 6.6 to 16.4% (21–45 bp) for COI. Phylogenetic analysis (28S) placed the newly generated DNA sequences of Creptotrema in a clade (Creptotrema clade sensu stricto) composed of C. creptotrema, the new species described herein, and all species previously described as Auriculostoma, revealing that Auriculostoma is best interpreted as a synonym of Creptotrema based on the principle of priority of zoological nomenclature. Creptotrema funduli, the single sequence of the genus previously available, was not grouped within the Creptotrema clade sensu stricto, suggesting the need for reevaluation of the taxonomic status of this species. Our results showed that Creptotrema represents a monophyletic genus of trematodes widely distributed across the Americas, which currently comprises 19 valid species of parasites of teleosts and anurans.

Cyntia Camilo Franco Borges Zago,1 Bruna de Freitas Oliveira,1 Giovanna Uehara,1 Ana Laura Carvalho da Silva,1 Laura Penna Rocha,1 Fabiano Bichuette Custódio,2 Liliane Silvano Araújo,1 Crislaine Aparecida da Silva,1 Marlene Antônia Reis,1 Juliana Reis Machado1 1Kidney Research Center-Department of Pathology, Genetics and Evolution, Federal University of Triângulo Mineiro, Uberaba, Minas Gerais, Brazil; 2Department of Clinical Medicine, Federal University of Triângulo Mineiro, Uberaba, Minas Gerais, BrazilCorrespondence: Juliana Reis Machado, Kidney Research Center – Department of Pathology, Genetics and Evolution, Federal University of Triângulo Mineiro, Uberaba, Minas Gerais, Brazil, Tel +55 (34) 3700-6450, Email juliana.patologiageral@gmail.comPurpose: In the kidneys, Systemic Lupus Erythematosus leads to Lupus Nephritis (LN), a form of glomerulonephritis. There is evidence that patients with LN may present activation of specific pathways for podocyte injury. This injury can occur through different mechanisms such as loss of podocyte adhesion to the glomerular basement membrane, cell death or dedifferentiation. Podocyturia with consequent podocytopenia has been described in some nephropathies such as LN, highlighting the importance of studying podocyte injuries in this condition. Evaluating in situ morphological characteristics of podocytes becomes relevant for a better understanding of the processes involved in their pathogenesis. This study investigated podocytes in different classes of LN in renal biopsies performed by the Kidney Research Center at the Federal University of Triângulo Mineiro.Patients and Methods: Twenty control cases and 29 biopsy cases diagnosed with LN were selected, divided according to the histopathological classes of the disease. Podocyte density was assessed through immunohistochemistry for Wilms tumor 1 protein and the evaluation of foot process effacement was performed by transmission electron microscopy.Results: Podocyte density was lower in the LN and this reduction was observed in all analyzed classes when compared to the control group. More foot process effacement was observed in the LN group, with more effacement in classes I/II and class IV compared to the control group. The class IV group showed more foot process effacement than the class III group and presented higher proteinuria levels compared to the classes I/II group. A strong, positive, and significant correlation was observed between the activity index and foot process effacement in the class IV group.Conclusion: Podocytes play an important role in the development of LN, and possibly, injuries to these cells are more closely related to the inflammatory/diffuse proliferative cellular process developed in class IV LN.Keywords: podocyte density, foot processes effacement, activity index, renal biopsy

This paper focuses on vocabulary development in oral language productions of three elementary school-age sibling pairs growing up in a trilingual setting. This longitudinal study describes the development of the children's narrative competence over three years. The corpus analysed consists of retellings of animated films. The contribution deals with the lexical development in the three languages of the children, in particular the length of the productions, lexical diversity and lexical sophistication. Lexical diversity is measured by the Guiraud Index. It is assumed that the children's vocabulary becomes more diverse with increasing age. Lexical sophistication is examined by measuring the average frequency of words used by the participants. It is assumed that as children's vocabularies grow, they will include more and more 'rare' low-frequency words in their productions. Assuming that the school language is the dominant language, the question is whether lexical diversity and sophistication increase with age in all three of the children's languages, or whether this is only the case in the school language. The results show that lexical development varies from child to child. However, a certain trend can be observed, indicating that school vocabulary is becoming more sophisticated.

Abstract Background Patients with Hemophilia are continually monitored at treatment centers to avoid and control bleeding episodes. This study estimated the direct and indirect costs per patient with hemophilia A in Brazil and evaluated the cost variability across different age groups. Methods A prospective observational research was conducted with retrospective data collection of patients assisted at three referral blood centers in Brazil. Time-driven Activity-based Costing method was used to analyze direct costs, while indirect costs were estimated based on interviews with family and caregivers. Cost per patient was analyzed according to age categories, stratified into 3 groups (0–11;12–18 or older than 19 years old). The non-parametric Mann-Whitney test was used to confirm the differences in costs across groups. Results Data from 140 hemophilia A patients were analyzed; 53 were 0–11 years, 29 were 12–18 years, and the remaining were older than 19 years. The median cost per patient per year was R$450,831 (IQR R$219,842; R$785,149; $174,566), being possible to confirm age as a cost driver: older patients had higher costs than younger’s (p = 0.001; median cost: 0–11 yrs R$299,320; 12–18 yrs R$521,936; ≥19 yrs R$718,969). Conclusion This study is innovative in providing cost information for hemophilia A using a microcosting technique. The variation in costs across patient age groups can sustain more accurate health policies driven to increase access to cutting-edge technologies and reduce the burden of the disease.

Abstract Recent studies have shown a growing interest in the so-called “aperiodic” component of the EEG power spectrum, which describes the overall trend of the whole spectrum with a linear or exponential function. In the field of brain aging, this aperiodic component is associated both with age-related changes and performance on cognitive tasks. This study aims to elucidate the potential role of education in moderating the relationship between resting-state EEG features (including aperiodic component) and cognitive performance in aging. N = 179 healthy participants of the “Leipzig Study for Mind–Body-Emotion Interactions” (LEMON) dataset were divided into three groups based on age and education. Older adults exhibited lower exponent, offset (i.e. measures of aperiodic component), and Individual Alpha Peak Frequency (IAPF) as compared to younger adults. Moreover, visual attention and working memory were differently associated with the aperiodic component depending on education: in older adults with high education, higher exponent predicted slower processing speed and less working memory capacity, while an opposite trend was found in those with low education. While further investigation is needed, this study shows the potential modulatory role of education in the relationship between the aperiodic component of the EEG power spectrum and aging cognition.

The 8th Albanian Congress of Trauma and Emergency Surgery (ACTES 2024) was a dynamic platform for exchanging cutting-edge knowledge, clinical expertise, and innovative trauma and emergency surgery research. This prestigious event will convene leading professionals from Albania and the international medical community, including surgeons, researchers, and healthcare providers. The congress aims to address contemporary challenges and advancements in trauma care, emergency surgical techniques, and interdisciplinary approaches to patient management. Key themes include the role of minimally invasive surgery in trauma, advancements in hemostatic techniques, damage control marks a pivotal event in the medical community, providing a dynamic platform for knowledge exchange, professional collaboration, and advancements in surgical science in Albania. This congress brings together experts, scholars, practitioners, and enthusiasts from trauma and emergency surgery, creating an opportunity for meaningful dialogue and innovation. Hosted in the vibrant city of Tirana, ACTES 2024 features a comprehensive program that addresses a broad spectrum of topics, including abdominal and chest injuries, vascular trauma, emergency surgical procedures, and the evolving challenges in nursing services for the modern era. The congress theme, "Trauma and emergency surgery and not only…” underscores a commitment to innovation, evidence-based practices, and groundbreaking discoveries. The event includes plenary sessions with renowned experts, scientific presentations, panel discussions, poster awards, networking opportunities, industry exhibitions, cultural activities, and Continuing Medical Education (CME) credits. Primary Content: Participants can expect an enriching professional experience complemented by opportunities for personal growth. The congress promotes collaboration, fosters international partnerships, and highlights the vital role of each attendee in advancing surgical knowledge and improving patient care. The ACTES 2024 is a dynamic platform for exchanging cutting-edge knowledge, clinical expertise, and innovative trauma and emergency surgery research. This prestigious event will convene leading professionals from Albania and the international medical community, including surgeons, researchers, and healthcare providers. The congress aims to address contemporary challenges and advancements in trauma care, emergency surgical techniques, and interdisciplinary approaches to patient management. Key themes include the role of minimally invasive surgery in trauma, advancements in hemostatic techniques, damage control resuscitation, the integration of trauma registries, and strategies for improving outcomes in mass casualty incidents. ACTES 2024 also emphasizes the importance of education and collaboration, featuring interactive workshops, live demonstrations, and case-based discussions. These sessions aim to enhance participants' practical skills and foster partnerships among institutions across the region and beyond. Through its comprehensive scientific program, ACTES 2024 underscores its commitment to elevating trauma and emergency surgical care standards, supporting evidence-based practice, and advocating for policy improvements in healthcare systems. This congress represents a unique opportunity to share insights, build networks, and shape the future of trauma and emergency surgery in Albania and the global healthcare community. Conclusion: ACTES 2024 is not just a gathering; it is a movement toward transforming the future of trauma and emergency surgery. Through active participation, the event aims to inspire innovation, encourage global collaboration, and make a lasting impact on surgical care worldwide. The 8th Albanian Congress of Trauma and Emergency Surgery is committed to continuously improving trauma and emergency care standards in Albania and beyond. By creating a space for learning, collaboration, and knowledge exchange, this congress strengthens the foundation for innovation and evidence-based practice. As healthcare professionals unite to share their expertise and insights, ACTES 2024 will undoubtedly impact trauma and emergency surgery trajectories, ultimately improving patient outcomes. Keywords: Trauma care; Emergency surgery; Damage control surgery; Minimally invasive techniquesMinimally invasive techniques; Multidisciplinary care; Acute care medicine; Hemostasis techniques; Mass casualty management; Surgical innovation; Trauma registries; Evidence-based practice; Healthcare systems improvement; Patient outcomes; Surgical education; Regional collaboration; ATLS, Trauma management; trauma education; BAT, PAT, abdominal injury, pelvic injury, acute care surgery, abdomen acute, oncologic surgery, cardiac surgery, AI, bariatric surgery, sleeve resection, chest trauma, lung cancer, vascular surgery, hernia surgery, colorectal cancer, pain, lung diseases, MVC, car accident, emergency medicine; Trauma care, emergency surgery, abdominal injuries, chest trauma, vascular injuries, nursing challenges, surgical innovation, CME credits, international collaboration, evidence-based practices.

Diet is considered one of the most important determinants of health and at the same time a cause of climate change. We conducted a cross-sectional study in three Italian hospital canteens on five consecutive working days to investigate food offer availability and user choices in terms of nutritional intake and environmental impact. Photos of lunch trays were collected by the researchers and food offer and choices were analysed using the Italian Food Composition Database for Epidemiological Studies and the SU-EATABLE LIFE dataset. A total of 1227 lunch meals were analysed. The median energy intake ranged from 646 to 900 kcal/tray. The median energy content from lipids ranged from 32 to 40 % of energy and exceeded that from carbohydrates in one canteen. The median carbon and water footprint ranged from 773 to 1338 g CO2 eq./tray and from 847 to 1229 L H2O/tray, respectively. Differences occurred depending on sex and typology of work. In conclusion, regardless of the differences in the number of food options offered in the three canteens, the choices tended to be suboptimal from a nutritional perspective. The most sustainable choices were made in the canteen without beef on offer. Measures should be taken to increase the variety of vegan and vegetarian options on offer and to improve food choices in terms of nutritional composition and environmental sustainability. This could be done through educational programmes focused on increasing awareness on their diet, and practical indications on how to compose a complete and low impact meal.

Objective This study aimed to explore the utility of a high-intensity interval training (HIIT) app as a remote exercise support strategy in children with obesity through assessing adherence, possible effects on obesity-related outcomes, and perceptions of its use to support counseling and improve the treatment of children with obesity. Methods Thirty-seven children (94.6% with obesity; 45.9% girls), with a mean age of 10.4 (±1.8) years and a mean body mass index (BMI) z-score of 3.31 (±1.09) were recruited to use the app during 6 weeks. Assessments were performed at baseline, 6 (end of intervention), and 12 weeks (follow up). Results Thirty-two (86.3%) participants completed both intervention and follow-up assessments and were analyzed. On average, children used the HIIT app 2.5 times per week (95% confidence interval (CI): 1.9 to 3.0), with the highest perceived exertion of 4.1 (95% CI: 3.6 to 4.5). No over-time differences were found in body composition, physical activity, screen time, sleep duration, or water intake after the intervention; however, an over-time decrease in sugary beverages intake (Δ−0.9, 95% CI: −1.6 to −0.1, p = .019). No differences in body composition were found at follow up. Although none of the children or parents perceived impairments in nutritional behavior, general wellbeing, or fitness as a consequence of intervention, most children (64.5%), but not parents, perceived improvements in nutritional behavior and general wellbeing. Conclusion Although feasible, the 6-week effect of HIIT app use is modest or absent regarding body composition, movement, and nutritional behavior change, probably due to its low volume. More studies are needed to explore the utility of HIIT apps as a remote exercise support strategy for children with obesity further.

Introdução: Leucemia Promielocítica Aguda (LPA) é um subtipo de leucemia mieloide aguda associada a um curso rápido, agressivo e a fenômenos hemorrágicos potencialmente fatais. Decorre de uma mutação genética que interfere na maturação das células mieloides, levando ao acúmulo de promielócitos. Relato de caso: Paciente masculino, 74 anos, ECOG 2, histórico de dissecção de aorta com correção cirúrgica há 8 anos. Nega uso de álcool, tabaco ou substâncias ilícitas. Em fevereiro de 2024 iniciou com inapetência, náuseas e dor abdominal em hipocôndrio esquerdo, com perda ponderal aproximada de 15 quilos. Admitido nesta instituição em 30 de abril de 2024 com importante fragilidade clínica, pancitopênico e com coagulação intravascular disseminada. Exames de imagem, além da esplenomegalia e linfonodomegalias retroperitoneais, demonstraram sinais de extravasamento na endoprótese metálica aórtica. Realizado aspirado de medula óssea (AMO) em crista ilíaca postero-superior, não sendo possível estabelecer diagnóstico, visto o fenômeno de medula vazia. Optado pela realização de biópsia de medula óssea (BMO), sendo documentada presença de células imaturas e de fibrose reticulínica grau 1. Marcadores negativos para neoplasia mieloproliferativa crônica. Mediante a suspeita de leucose aguda, realizou-se AMO em sítio esternal, sendo estabelecido o diagnóstico de LPA, com presença de 29% de promielócitos em imunofenotipagem e de rearranjo PML-RARA na análise biomolecular. No mielograma foi observado promielócitos hipogranulares. Iniciado tratamento com Ácido Trans Retinóico (ATRA) e Daunorrubicina. Ao longo da indução o paciente manteve quadro de coagulopatia e dependência transfusional. Ausência de remissão morfológica na reavaliação medular pós 30 dias do início da terapia, porém, houve resolução da fibrose medular. Optado por reindução com a ATRA associado ao trióxido de arsênico (ATO). No momento, o paciente ainda está realizando terapia de segunda linha para indução. Discussão: LPA foi descrita em 1957 como uma doença agressiva, de curso rápido e a fenômenos hemorrágicos. Decorre da translocação entre os cromossomos 15 e 17, resultando na fusão do gene da leucemia promielocitica (PML) ao gene do receptor alfa do ácido transretinoico (RARA). A proteína resultante impede a diferenciação das células mieloides. O tratamento inicialmente se pautava no uso isolado de antraciclinas. Com avanços na área da citogenética, foi possível incorporar o uso do ATRA para atingir a maturação funcional dos promielócitos, repercutindo na melhora na sobrevida. Posteriormente, o ATO foi incorporado a esquemas de tratamento em associação com o ATRA, um regime isento de quimioterapia. Raramente ocorre acometimento extramedular, assim como, não é comum a presença fibrose, apesar de existirem raros relatos de LPA cursando com certo grau de fibrose medular, resultante da produção de citocinas e ativação de fibroblastos pelos blastos leucêmicos. Conclusão: Quadros atípicos de LPA levam ao atraso no início do tratamento, refletindo no aumento de risco de óbito. Ressaltamos a importância de sempre levantar suspeita de LPA em um quadro de leucose aguda e iniciar tratamento direcionado o mais precoce possível.

Introdução: Trichosporon é um fungo basidiomiceto com estrutura semelhante à levedura. Encontra-se disperso no ambiente e pode fazer parte da microbiota humana. Trichosporon asahii é o representante mais proeminente, cuja infecção é mais comumente relatada em indivíduos imunodeprimidos. Métodos: Relato de caso, conforme dados de prontuário, de um paciente com fungemia por Trichosporon asahii em tratamento para leucemia linfoblástica aguda (LLA) atendido em nosso serviço e realizar revisão literária, através da plataforma pubmed, acerca desta infecção. Relato de caso: Paciente masculino, 25 anos, agrônomo, em contato direto com plantações agrículas, iniciou com mialgia em janeiro de 2024, tendo feito uso de corticoide e relaxantes musculares de forma intermitente. Após algumas semanas, evoluiu com dispneia, sendo evidenciado, em radiografia torácica, infiltrados sugestivos de broncopneumonia, iniciando tratamento antimicrobiano ambulatorial. Passados 14 dias de tratamento, por manter quadro de tosse seca e dispneia, procurou novamente atendimento, sendo internado para melhor investigação. Na ocasião, foi realizada tomografia de tórax, exibindo diversas linfonodomegalias, além de volumoso derrame pleural. Foi encaminhado para consulta com hematologia. Na primeira consulta, paciente com múltiplas linfonodomegalias, anemia, plaquetopenia e presença de 55.528 blastos em corrente sanguínea. Imunofenotipagem compatível com LLA T. Iniciado tratamento com protocolo GRAALL. Durante indução, paciente apresentou quadro de candidíase oroesofágica, a qual foi tratada com equinocandina por 10 dias. Dezessete dias após início de tratamento, paciente evolui com instabilidade hemodinâmica, concomitante com o crescimento de elementos leveduriformes em hemocultura. Alterado terapia antifúngica para anfotericina B, todavia, sem melhora da instabilidade, necessitando de intubação orotraqueal e ventilação invasiva. Após 25 horas da coleta da hemocultura, foi isolado Trichosporon asahii. Optado por alterar terapia antifúngica para voriconazol. No entanto, paciente apresenta quadro de choque septico em progressiva piora, evoluindo para falência múltipla de órgãos e, por fim, a óbito dois dias após isolamento do agente infeccioso. Discussão: Trichosporon é um fungo basidiomiceto, com estrutura semelhante à levedura, que se encontra disperso no ambiente e pode fazer parte da microbiota gastrointestinal e cutânea. O Trichosporon asahii é o representante cuja infecção é mais comumente relatada em humanos, majoritariamente em indivíduos imunodeprimidos. A fungemia é definida pela detecção do fungo na corrente circulatória, sendo que o tempo médio para crescimento do fungo em hemoculturas é de aproximadamente 33 horas. No caso dos pacientes hematológicos, que frequentemente possuem uma neutropenia prolongada, há maior atraso na eliminação da fungemia. Em muitos casos, falha-se no diagnóstico, visto que a estrutura do fungo é muito semelhante a uma levedura, refletindo em um tratamento ineficaz, uma vez que, a terapia com azólicos, como o voriconazol, demonstrou maior efetividade, comparado ao uso isolado de anfotericina B. Conclusão: Relatamos o caso de infecção fúngica por tricoscoporum em um paciente com LLA onde houve atraso do diagnóstico visto semelhança da estrutura fúngica com levedura. Alertamos sobre a importância na suspeição de tricosporose naqueles pacientes que não apresentarem melhora com uso de antifúngicos potentes, a exemplo da anfotericina B.

Introdução: Neoplasias Mielodisplásicas (SMD) correspondem a uma entidade hematológica responsável por alterações morfológicas em células medulares, resultando em citopenias, além de possuir risco de evolução para Leucemia Mieloide Aguda. Exposição quimioterápica prévia, exposição a substâncias mielotóxicas e doenças autoimunes são fatores de risco estabelecidos. Dentre as causas autoimunes, a Síndrome VEXAS (vacuolização, enzima ativadora de ubiquitina E1, ligação ao X, autoinflamação, síndrome somática) deve ser considerada. Relato de caso: Paciente masculino, 73 anos, previamente hipertenso. Admitido em nosso serviço devido a quadro de edema articular, inicialmente sem artralgia associada, perda ponderal de 10 quilos e pancitopenia com 5 meses de evolução. Nos exames de imagem, observado esplenomegalia e opacidades pulmonares em vidro fosco, podendo corresponder a pneumopatia de pequenas vias aéreas. Realizado aspirado de medula óssea, com mielograma hipercelular, exibindo displasia nas três linhagens, incluindo a presença de vacuolização de citoplasma nas células precursoras. A imunofenotipagem comprovou as alterações sugestivas de mielodisplasia. Exames laboratoriais com fator reumatóide e anti-Ro positivo em altos títulos. Aproximadamente 30 dias após admissão, paciente evolui com artralgia, sendo optado pelo início de hidroxicloroquina, conforme avaliação reumatológica. Do ponto de vista hematológico, paciente estratificado como risco intermediário pelo escore prognóstico Revised International Prognostic Scoring System, sendo iniciado tratamento com azacitidina em maio de 2024. Neste momento, o paciente segue realizando terapia hipometilante e uso de hidroxicloroquina, todavia, com baixa resposta terapêutica. Discussão: A SMD decorre da proliferação de células hematológicas displásicas, refletindo em prejuízo na sua diferenciação e função tecidual. Faz-se uso de escores para estratificar o paciente em baixo e alto risco. Para pacientes de baixo risco, a terapêutica visa reduzir sintomas e a dependência transfusional através do uso de estimuladores da eritropoese e trombopoese, além de imunomoduladores, tal como a lenalidomida. A terapia de primeira linha para pacientes com citopenia nas três linhagens e alto risco se pauta no uso de hipometilantes. O único tratamento potencialmente curativo é o transplante alogênico de células hematopoiéticas. A desregulação do sistema imune está ligada à patogênese da SMD, podendo ser encontrada em até 25% dos pacientes. Dentre as causas autoimunes, cita-se a Síndrome VEXAS que se caracteriza por mutações somáticas no gene da UBA1, acarretando manifestações reumatológicas, hematológicas, dermatológicas e pulmonares, cujo diagnóstico é estabelecido pela detecção de variações patogênicas da UBA1. Conclusão: Neste caso, relatamos o quadro de SMD provavelmente relacionada à Síndrome VEXAS, uma vez que ela deve ser considerada em homens com mais de 50 anos de idade que apresentam inflamação sistêmica, envolvimento multiorgânico e citopenias, todavia, por estarmos em um hospital universitário regido por recursos públicos, não temos disponível a pesquisa da mutação, dificultando o estabelecimento do diagnóstico definitivo da síndrome.

Introdução: O fator V de Leiden é uma das causas genéticas mais frequentes de trombofilia. A frequência da mutação em pacientes que recebem Transplante de Células-Tronco (TCTH) e seu papel no desenvolvimento de complicações trombóticas são desconhecidas. Com o quimerismo completo do doador no enxerto, o teste genético no sangue periférico torna-se falso negativo e não é mais informativo sobre a condição do paciente. O presente trabalho discorre sobre um caso de paciente cujo resultado da pesquisa do fator V de Leiden no pós-TCTH foi negativo. Material e métodos: Relatamos o caso de uma paciente assistida em hospital universitário público do interior do Rio Grande do Sul e revisão de literatura em bibliotecas eletrônicas com os dados sobre “Factor V Leiden and allogeneic bone marrow transplantation”. Resultados: Feminino, 20 anos, com diagnóstico de LLA-B em 2017, com recidiva medular isolada 42 meses após o diagnóstico e recidiva em sistema nervoso central isolada 18 meses após a recidiva medular. Foi submetida a TCTH haploidêntico, com doador progenitor masculino, após condicionamento com CY-TBI. A paciente era portadora de heterozigose para mutação H1299R do Fator V de Leiden previamente ao TCTH, detectado em exame de PCR, e já havia apresentado dois episódios de trombose venosa, uma delas em vigência de anticoagulação. A mais grave delas, um tromboembolismo pulmonar. Durante o TCTH, a paciente permaneceu anticoagulada e não teve tromboses. No acompanhamento um ano após TCTH, apresentou quimerismo completo e DRM negativa. Realizado novo PCR para pesquisa da mutação do fator V de Leiden um ano após a enxertia e essa foi negativa. Atualmente a paciente permanece em vigência de anticoagulação plena. A interpretação de resultados de testes genéticos em DNA após TCTH deve ser realizada com cuidado. Isso porque, a análise molecular é realizada no material proveniente do enxerto e no caso de um quimerismo completo de doador, o resultado reflete o status deste. No caso da mutação do Fator V de Leiden, esse dado se tornou conhecido através da análise molecular realizada em tecido hepático de pacientes transplantados que possuíam a mutação previamente ao transplante, que mostrou a persistência de um genótipo mutado do fator V de Leiden de origem nos receptores que passaram a ter o resultado sérico negativo. Dessa forma, o fenótipo hematopoiético não influencia a produção hepática do fator V mutado, e o paciente uma vez portador da mutação, sempre permanecerá com o diagnóstico a despeito da detecção molecular sérica negativa. Conclusão: As mutações do fator V Leiden podem ser facilmente avaliados pelo uso de técnicas de PCR baseadas em DNA, desde que esses DNA seja de origem do receptor. A quimera completa produz um resultado falso-negativo quando esses testes genéticos são realizados após o TCTH e é necessário cuidado na interpretação dos resultados. Em nossa paciente, com quimerismo completo, o resultado negativo não é mais informativo sobre o real status da trombofilia da paciente.

Introdução: Transplantados de medula óssea têm alto risco para infecções oportunistas. A mucormicose, infecção fúngica invasiva, requer pronto diagnóstico e tratamento devido a alta letalidade. A forma gastrointestinal é extremamente rara. Este relato parece ser a primeira descrição na literatura de mucormicose hepatoesplênica em TCTH, essencialmente suplantando sobrevida de mais de 18 meses. Métodos: Relatamos caso raro de mucormicose hepatoesplênica em paciente transplantado alogênico em hospital universitário público do Rio Grande do Sul, ressaltando os desafios de diagnóstico e tratamento. Resultados: Masculino, 15 anos, portador de LLA-T recaída em sistema nervoso, foi submetido a TCTH haploidêntico de progenitor masculino, após condicionamento com CY-TBI em dezembro de 2022. A imunossupressão foi realizada Ciclosporina e Micofenolato. No D+9, apresentou dor abdominal, vômitos, febre e taquicardia. TC de abdome mostrou a presença de nódulos hepáticos hipodensos, lobulados e sem realce ao contraste, medindo até 2,3×2,3 cm. Iniciou tratamento com Anidulafungina pela suspeita de candidíase hepática. Paciente permaneceu febril em 48 horas e foi feita troca para Anfotericina B Complexo Lipídico. No D+17 se reavaliou a imagem, detectando-se aumento nas dimensões das lesões, as maiores com 3,3×2,5 cm, a despeito da melhora clínica do paciente. A pega medular ocorreu no D+42, retardada pela presença da infecção fúngica. A Anfotericina B foi mantida do D+11 ao D+120, quando houve nova tentativa de uso da Anidulafungina. Em 14 dias após o desescalonamento do antifúngico, a TC evidenciou aumento das lesões e surgimento de esplenomegalia, sugerindo progressão da infecção, e o retorno da Anfotericina B foi imperativo. A plaquetopenia severa permanecia desde o TCTH e inviabilizava a biópsia hepática. O paciente permaneceu utilizando a Anfotericina B diariamente e fazendo reavaliações de imagem mensalmente até o oitavo mês pós-TMO, quando atingiu condições clínicas de biópsia hepática percutânea. Duas biópsias foram necessárias para que o diagnóstico de mucormicose fosse determinado através de anatomopatológico e exame direto. Com o diagnóstico firmado foi realizada a troca do tratamento para Isavuconazol, o qual permanece em uso há cerca de nove meses, com estabilidade clínica e de imagem. O diagnóstico de mucormicose, mesmo nas apresentações típicas, como a rino-cerebral, pode ser muito difícil. Os relatos de mucormicose gastrointestinal são raríssimos e descrevem essencialmente acometimento de esôfago, estômago e intestino. Os casos de micoses hepáticas em TCTH se concentram em descrever a candidíase hepatoesplênica. Esse caso mostra uma infecção precoce, instalada na aplasia e que se cronificou, o que é incomum no que diz respeito às infecções fúngicas, pois normalmente, se não levam o paciente ao óbito na fase de neutropenia, elas melhoram e/ou curam no período pós-pega. Na revisão literária não se encontrou outro caso com clínica semelhante. Conclusão: A mucormicose gastrointestinal é raríssima e possui alta letalidade. Possivelmente essa seja a primeira descrição na literatura médica de uma forma aguda cronificada de mucormicose hepatoesplênica em TCTH. Ademais, esse paciente já apresenta sobrevida que suplanta mais de 18 meses, o que torna o caso mais único. Questionamentos sobre o seguimento, o tempo de tratamento e a possibilidade de suspensão do antifúngico permanecem em aberto visto que não se tem dados para manejo de tal apresentação.

Abstract Background Diabetic retinopathy (DR) stands as the foremost cause of preventable blindness in adults. Despite efforts to expand DR screening coverage in the Brazilian public healthcare system, challenges persist due to various factors including social, medical, and financial constraints. Our objective was to evaluate the quality of images obtained with the AirDoc, a novel device, compared to Eyer portable camera which has already been clinically validated. Methods Images were captured by two portable retinal devices: AirDoc and Eyer. The included patients had their fundus images obtained in a screening program conducted in Blumenau, Santa Catarina. Two retina specialists independently assessed image’s quality. A comparison was performed between both devices regarding image quality and the presence of artifacts. Results The analysis included 129 patients (mean age of 61 years), with 29 (43.28%) male and an average disease duration of 11.1 ± 8 years. In Ardoc, 21 (16.28%) images were classified as poor quality, with 88 (68%) presenting artifacts; in Eyer, 4 (3.1%) images were classified as poor quality, with 94 (72.87%) presenting artifacts. Conclusions Although both Eyer and AirDoc devices show potential as screening tools, the AirDoc images displayed higher rates of ungradable and low-quality images, that may directly affect the DR and DME grading. We must acknowledge the limitations of our study, including the relatively small sample size. Therefore, the interpretations of our analyses should be approached with caution, and further investigations with larger patient cohorts are warranted to validate our findings.

Abstract Background Epidermolysis bullosa (EB) is a group of rare hereditary diseases, characterized by fragility of the skin and mucous membranes. Epidemiological data on EB in Brazil are scarce. Objectives To describe epidemiological aspects of patients with EB diagnosed in the Dermatology Department of a tertiary hospital, from 2000 to 2022. Methods An observational and retrospective study was conducted through the analysis of medical records. The evaluated data included clinical form, sex, family history, consanguinity, age at diagnosis, current age, time of follow-up, comorbidities, histopathology and immunomapping, presence of EB nevi and squamous cell carcinomas (SCC), cause of and age at death. Results Of 309 patients with hereditary EB, 278 were included. The most common type was dystrophic EB (DEB), with 73% (28.4% dominant DEB, 31.7% recessive DEB and 12.9% pruriginous DEB). Other types were junctional EB with 9.4%, EB simplex with 16.5% and Kindler EB with 1.1%. Women accounted for 53% and men for 47% of cases. Family history was found in 35% and consanguinity in 11%. The mean age at diagnosis was 10.8 years and the current age was 26 years. The mean time of follow-up was nine years. Esophageal stenosis affected 14%, dental alterations affected 36%, malnutrition 13% and anemia 29%. During diagnostic investigation, 72.6% underwent histopathological examination and 92% underwent immunomapping. EB nevi were identified in 17%. Nine patients had SCC. Eleven patients died. Study limitations Insufficient data included to medical records, loss to follow-up, and unavailability of genetic testing. Conclusions In this study, dystrophic EB predominated and the need for multidisciplinary care for comorbidities and complications was highlighted.

Abstract To assess the feasibility of code-free deep learning (CFDL) platforms in the prediction of binary outcomes from fundus images in ophthalmology, evaluating two distinct online-based platforms (Google Vertex and Amazon Rekognition), and two distinct datasets. Two publicly available datasets, Messidor-2 and BRSET, were utilized for model development. The Messidor-2 consists of fundus photographs from diabetic patients and the BRSET is a multi-label dataset. The CFDL platforms were used to create deep learning models, with no preprocessing of the images, by a single ophthalmologist without coding expertise. The performance metrics employed to evaluate the models were F1 score, area under curve (AUC), precision and recall. The performance metrics for referable diabetic retinopathy and macular edema were above 0.9 for both tasks and CFDL. The Google Vertex models demonstrated superior performance compared to the Amazon models, with the BRSET dataset achieving the highest accuracy (AUC of 0.994). Multi-classification tasks using only BRSET achieved similar overall performance between platforms, achieving AUC of 0.994 for laterality, 0.942 for age grouping, 0.779 for genetic sex identification, 0.857 for optic, and 0.837 for normality with Google Vertex. The study demonstrates the feasibility of using automated machine learning platforms for predicting binary outcomes from fundus images in ophthalmology. It highlights the high accuracy achieved by the models in some tasks and the potential of CFDL as an entry-friendly platform for ophthalmologists to familiarize themselves with machine learning concepts.

Abstract Recent literature shows that loss of replicative ability and acquisition of a proinflammatory secretory phenotype in senescent cells is coupled with the build-in of nucleic acids in the cytoplasm. Its implication in human age-related diseases is under scrutiny. In human endothelial cells (ECs), we assessed the accumulation of intracellular nucleic acids during in vitro replicative senescence and after exposure to high glucose concentrations, which mimic an in vivo condition of hyperglycemia. We showed that exposure to high glucose induces senescent-like features in ECs, including telomere shortening and proinflammatory cytokine release, coupled with the accrual in the cytoplasm of telomeres, double-stranded DNA and RNA (dsDNA, dsRNA), as well as RNA:DNA hybrid molecules. Senescent ECs showed an activation of the dsRNA sensors RIG-I and MDA5 and of the DNA sensor TLR9, which was not paralleled by the involvement of the canonical (cGAS) and non-canonical (IFI16) activation of the STING pathway. Under high glucose conditions, only a sustained activation of TLR9 was observed. Notably, senescent cells exhibit increased proinflammatory cytokine (IL-1β, IL-6, IL-8) production without a detectable secretion of type I interferon (IFN), a phenomenon that can be explained, at least in part, by the accumulation of methyl-adenosine containing RNAs. At variance, exposure to exogenous nucleic acids enhances both IL-6 and IFN-β1 expression in senescent cells. This study highlights the accrual of cytoplasmic nucleic acids as a marker of senescence-related endothelial dysfunction, that may play a role in dysmetabolic age-related diseases.

Abstract Background Describe complications and clinical outcomes of heavy silicone oil (HSO) Oxane HD® use as an alternative to overcome the challenges of performing vitrectomy to treat tractional and rhegmatogenous retinal detachments with proliferative vitreoretinopathy (PVR). Methods A retrospective, observational study was performed on patients from one center from August 2014 to Aug 2023. It was included patients who underwent surgery using HSO Oxane HD® to treat rhegmatogenous retinal detachment with PVR or mixed tractional and rhegmatogenous diabetic retinal detachment. Severely ill patients who could not attend to follow up were excluded. The primary outcome was successful retinal attachment at first postoperative month. A descriptive analysis was performed. Results Among the 31 patients, 29 (93.5%) underwent surgeries due to rhegmatogenous retinal detachment and two (6.5%) for diabetic retinal detachment. The primary anatomic success was achieved in 27 (87.1%) patients. At the final visit, 17 (56.6%) had vision better than 20/400 (range, 20/30 to light perception). The vision was stable or improved in 22 (76.8%) patients at the end of follow-up. Nineteen (61.3%) patients required hypotensive eye drops after HSO use and twelve (38.7%) still required hypotensive eye drops at the final follow-up; three (9.7%) patients required additional glaucoma surgeries. Conclusions HSO is safe and useful for complex retinal detachments cases specially with inferior tears and PVR. Ocular hypertension is frequent and usually clinically controlled with hypotensive eyedrops. Close postoperatively follow-up is advised due to the ocular complications, particularly elevated intraocular pressure and emulsification.

OBJETIVO: Nos anos recentes, a ressincronização ventricular tem sido proposta como adjuvante no tratamento da insuficiência cardíaca congestiva. O objetivo deste estudo é comparar as alterações eletrocardiográficas e o efeito hemodinâmico imediato das estimulações ventricular direita (EVD) e biventricular (EBV), no pós-operatório de operação de revascularização miocárdica (CRM) com circulação extracorpórea (CEC). CASUÍSTICA E MÉTODOS: Em um ensaio clínico cruzado, 13 pacientes com doença coronária multiarterial, e fração de ejeção inferior a 50%, foram submetidos a estimulação epicárdica temporária univentricular direita e biventricular, no 5° dia de pós-operatório. As variáveis analisadas foram duração do complexo QRS, dimensões do átrio esquerdo (AE) e ventrículo esquerdo (VE), fração de encurtamento do VE (delta D) e fração de ejeção do VE. Os grupos foram comparados através do teste de t de Student para amostras pareadas, considerando-se nível de significância de 0,05. RESULTADOS: A duração média do complexo QRS foi de 185±26 ms durante a EVD, e de 126±37 ms com a EBV (p

The aims of the present study were to determine the prevalence of human herpesvirus type 8 (HHV-8) in HIV-positive Brazilian patients with (HIV+/KS+) and without Kaposi's sarcoma (HIV+/KS-) using PCR and immunofluorescence assays, to assess its association with KS disease, to evaluate the performance of these tests in detecting HHV-8 infection, and to investigate the association between anti-HHV-8 antibody titers, CD4 counts and staging of KS disease. Blood samples from 66 patients, 39 HIV+/KS+ and 27 HIV+/KS-, were analyzed for HHV-8 viremia in peripheral blood mononuclear cells by PCR and HHV-8 antigenemia for latent and lytic infection by immunofluorescence assay. Positive samples for latent nuclear HHV-8 antigen (LNA) antibodies were titrated out from 1/100 to 1/409,600 dilution. Clinical information was collected from medical records and risk behavior was assessed through an interview. HHV-8 DNA sequences were detected by PCR in 74.3% of KS+ patients and in 3.7% of KS- patients. Serological assays were similar in detecting anti-LNA antibodies and anti-lytic antigens in sera from KS+ patients (79.5%) and KS- patients (18.5%). HHV-8 was associated with KS whatever the method used, i.e., PCR (odds ratio (OR) = 7.4, 95% confidence interval (CI) = 2.16-25.61) or anti-LNA and anti-lytic antibodies (OR = 17.0, 95%CI = 4.91-59.14). Among KS+ patients, HHV-8 titration levels correlated positively with CD4 counts (rho 0.48, P = 0.02), but not with KS staging. HHV-8 is involved in the development of KS in different geographic areas worldwide, as it is in Brazil, where HHV-8 is more frequent among HIV+ patients. KS severity was associated with immunodeficiency, but no correlation was found between HHV-8 antibody titers and KS staging.

Objective: To analyze the factors associated with alcohol use among Brazilian school adolescents. Method: This analytical cross-sectional study uses secondary data from the 2019 National School Health Survey edition conducted by the Brazilian Institute of Geography and Statistics. The research evaluated 125,123 adolescents through the application of a questionnaire. For the final model, multiple logistic regression was used. Results: Lifetime cigarette use was strongly associated with alcohol use (Odds Ratio=3.25; 95% Confidence Interval 2.28-4.62), followed by friends' alcohol use in the last 30 days (Odds Ratio=2.15; 95% Confidence Interval 1.52-3.05) and having parents who smoke (Odds Ratio=1.29; 95% Confidence Interval 1.13-1.48). Conclusion: Integrated actions and public policies involving young people and adolescents are important to ensure the health and well-being of healthy adults.

Objetivo: analizar los factores asociados con el consumo de alcohol entre adolescentes escolares brasileños. Método: se trata de un estudio transversal analítico utilizando datos secundarios de la Encuesta Nacional de Salud del Escolar edición 2019, conducida por el Instituto Brasileño de Geografía y Estadística. La investigación evaluó a 125.123 adolescentes mediante la aplicación de un cuestionario. Para el modelo final se utilizó la regresión logística múltiple. Resultados: el uso de cigarrillo en la vida estuvo fuertemente asociado al uso de alcohol (Odds Ratio=3,25; Intervalo de Confianza 95% 2,28-4,62), seguido del uso de alcohol por amigos en los últimos 30 días (Odds Ratio=2,15; Intervalo de Confianza 95% 1,52-3,05) y tener padre y madre que fuman (Odds Ratio=1,29; Intervalo de Confianza 95%1,13-148). Conclusión: son importantes acciones integradas y políticas públicas que involucren a jóvenes y adolescentes para garantizar la salud y el bienestar de adultos saludables.

Objetivo: analisar os fatores associados ao uso do álcool entre adolescentes escolares brasileiros. Método: trata-se de um estudo transversal analítico utilizando dados secundários da Pesquisa Nacional de Saúde do Escolar edição 2019, conduzida pelo Instituto Brasileiro de Geografia e Estatística. A pesquisa avaliou 125.123 adolescentes por meio da aplicação de um questionário. Para o modelo final foi utilizada a regressão logística múltipla. Resultados: o uso de cigarro na vida foi fortemente associado ao uso de álcool (Odds Ratio=3,25; Intervalo de Confiança 95% 2,28-4,62), seguido do uso de álcool por amigos nos últimos 30 dias (Odds Ratio=2,15; Intervalo de Confiança 95% 1,52-3,05) e ter pai e mãe que fumam (Odds Ratio=1,29; Intervalo de Confiança 95%1,13-148). Conclusão: são importantes ações integradas e políticas públicas envolvendo jovens e adolescentes para garantir a saúde e o bem-estar de adultos saudáveis.

ABSTRACT Objective Determining the etiology of hyperprolactinemia is fundamental for selecting the most appropriate treatment strategy. The aim of this study was to evaluate the usefulness and accuracy of prolactin levels in predicting the etiology of nonphysiological hyperprolactinemia. Subjects and methods In this retrospective study, we reviewed medical records of patients with nonphysiological hyperprolactinemia seen at two neuroendocrine reference centers located in Recife, Brazil, from January 2000 to December 2019. Results The study included 770 patients aged 12-73 years (65% female). The three most frequent etiologies of hyperprolactinemia were prolactinomas (n = 263; 34.2%), drug-induced hyperprolactinemia (n = 160; 20.8%), and macroprolactinemia (n = 120; 15.6%). The highest mean prolactin levels were observed in cases of prolactinomas and idiopathic hyperprolactinemia. Most patients with hyperprolactinemia due to other etiologies had prolactin levels < 100 ng/mL, but these levels were also found in 16.5% of patients with microproplactinomas and in 20% of those with idiopathic hyperprolactinemia. Likewise, prolactin levels largely overlapped among patients with microprolactinomas, macroprolactinemia, and drug-induced hyperprolactinemia. Notably, prolactin levels > 250 ng/mL enabled a clear distinction between the etiologies of macroprolactinoma and nonfunctioning pituitary adenoma. Moreover, prolactin levels > 500 ng/mL were highly suggestive of macroprolactinomas, although they were also found in very few patients ( 250 ng/mL allowed a clear distinction between macroprolactinomas and nonfunctioning pituitary adenomas. Furthermore, prolactin levels > 500 ng/mL were almost exclusively found in patients with prolactinomas.