ABSTRACT Background: Clostridioides difficile infection (CDI) is a potentially severe disease that can present with refractoriness, recurrence, and evolution to death. In Brazil, the epidemiology of CDI seems to differ from that of the United States and most European countries, with only one ribotype (RT) 027-related case and a high prevalence of RT106. Objective: The aim of this study was to evaluate the outcomes of CDI and its possible association with ribotypes at a university hospital in Brazil. Methods: A total of 65 patients with CDI were included and stool samples were submitted to A/B toxin detection and toxigenic culture, and toxigenic isolates (n=44) were also PCR ribotyped. Results: Patients’ median age was 59 (20-87) years and there were 16 (24.6%) deaths. The median Charlson comorbidity index (CCI) was 4 (0-15) and 16.9% of the patients had CCI ≥8. The ATLAS score and non-improvement of diarrhea were related to higher mortality. A longer length of hospitalization was related to the enteral nutrition and use of multiple antibiotics. The period between CDI diagnosis and hospital discharge was longer in those who received new antibiotics after diagnosis, multiple antibiotics, and required intensive care treatment. Recurrence was associated with CCI >7. Twenty ribotypes were identified and RT106 was the most frequently detected strain (43.2%). No relationship was observed between the ribotypes and outcomes. CDI was present in patients with more comorbidities. Conclusion: Risk factors for higher mortality, longer hospital stay and recurrence were identified. A diversity of ribotypes was observed and C. difficile strains were not related to the outcomes.

RESUMO Contexto: A infecção pelo Clostridioides difficile (ICD) é uma doença potencialmente grave que pode se apresentar com refratariedade, recidiva e evoluir para óbito. No Brasil, a epidemiologia da ICD parece diferir da dos Estados Unidos e da maioria dos países europeus, com apenas um caso relacionado ao ribotipo (RT) 027 e alta prevalência do RT106. Objetivo: Avaliar os desfechos da ICD e sua possível associação com ribotipos em um hospital universitário do Brasil. Métodos: Um total de 65 pacientes com ICD foram incluídos e amostras de fezes foram submetidas à detecção de toxina A/B e cultura toxigênica e as cepas toxigênicas isoladas (n=44) também foram ribotipadas por PCR. Resultados: A idade mediana dos pacientes foi de 59 (20-87) anos e houve 16 (24,6%) óbitos. A mediana do índice de comorbidade de Charlson (ICC) foi de 4 (0-15) e 16,9% dos pacientes apresentaram ICC ≥8. O escore ATLAS e a não melhora da diarreia foram relacionados a maior mortalidade. Maior tempo de internação esteve relacionado à nutrição enteral e ao uso de múltiplos antibióticos. O período entre o diagnóstico de ICD e a alta hospitalar foi maior naqueles que receberam novos antibióticos após o diagnóstico, múltiplos antibióticos e necessitaram de tratamento intensivo. A recorrência foi associada com ICC >7. Vinte ribotipos foram identificados e o RT106 foi a cepa mais frequentemente detectada (43,2%). Não foi observada relação entre os ribotipos e os desfechos. ICD esteve presente em pacientes com mais comorbidades. Conclusão: Foram identificados fatores de risco para maior mortalidade, maior tempo de internação e recorrência. Uma diversidade de ribotipos foi observada e cepas de C. difficile não foram relacionadas aos desfechos.

Abstract Introduction: Reinke’s Edema (RE) is a laryngeal lesion related to excessive tobacco smoking, voice overuse, and laryngopharyngeal reflux. Although the risk of malignancy has been considered low in literature, RE is classified among precancerous lesions. Objectives: We investigated DNA Copy Number Alterations (CNAs) in specimens of RE and its potential association with malignant progression. Methods: We used array-based comparative genomic hybridization (aCGH, Agilent 4 × 180 K platform) to study eight RE cases. All patients were heavy tobacco users for at least 30 years, and none of them progressed to cancer in the follow-up (>8 years). Two RE presented mild dysplasia, one moderate dysplasia, and no histological alterations were found in the remaining five cases. CNAs were compared with the Database of Genomic Variants (DGV) and genes mapped on altered regions had their functions annotated. Results: Six of eight patients showed different rare copy number alterations on chromosomes 2q37.3, 4q13.1, 4q13.3, 7q11.22, 10p14, and 13q34. A gain of the whole chromosome 8 were detected in one case. Of interest, four of eight RE cases showed copy number imbalances involving genes previously described in several tumor types (RASA3, COL6A3, LINC00707, LINP1, SMR3A, and SMR3B). Conclusion: The genomic imbalances herein found in RE have the potential to contribute to the phenotype but with limited or no risk of cancer. A long-term follow-up in a large series of patients could clarify the mechanisms involved in the malignant progression of RE. Level of evidence: 4.

ABSTRACT High-throughput phenotyping (HTP) using vegetation indices (VIs) is an important data source for managing plant breeding programs and can be a promising tool in indirect selection. This study hypothesized that VIs are correlated with agronomic traits in corn, and therefore, HTP can be an auxiliary tool for selecting superior genotypes. The objectives were: i) to analyze the association between agronomic traits and VIs, and ii) to identify superior corn hybrids for the evaluated traits using multivariate techniques. Ten corn hybrids (AGRI 330, AGRI 340, FS575PWU, KTZ006VP3, MG545AW, MG580PW, MG711PW, MZ1780, MZ1952, and TROPI 102) were evaluated for plant height (PH), stem diameter (SD), and grain yield (GY). The VIs studied were NDVI, NDRE, EVI, GNDVI, SAVI, and MSAVI. Pearson’s correlation network was constructed to analyze the relationship between the variables, and a canonical analysis was performed to verify the inter-relationship between the variables and hybrids. The VIs evaluated are strongly positively correlated with each other and with PH. The most productive hybrids are MG545AW, FS575PWU and KTZ006VP3. Hybrid MZ1952 has higher correlations with VIs and PH. The findings reveal that VIs can be excellent auxiliary variables for selecting agronomically superior genotypes, being a promising alternative to increase corn breeding efficiency.

ABSTRACT BACKGROUND: Although an association has been made between coronavirus disease 2019 (COVID-19) and microvascular disease, data on vascular complications (other than venous thromboembolism) are sparse. OBJECTIVE: To investigate the vascular complications in severely ill patients hospitalized with COVID-19 and their association with all-cause mortality. DESIGN AND SETTING: This cohort study was conducted at the Universidade Federal de São Paulo, Brazil. METHODS: All 305 consecutive patients diagnosed with COVID-19 and hospitalized in the intensive care unit (ICU) of a tertiary university hospital from April 2 to July 17, 2021, were included and followed up for 30 days. RESULTS: Of these, 193 (63.3%) were male, and the mean age was 59.9 years (standard deviation = 14.34). The mortality rate was 56.3% (172 patients), and 72 (23.6%) patients developed at least one vascular complication during the follow-up period. Vascular complications were more prevalent in the non-survivors (28.5%) than in the survivors (17.3%) group and included disseminated intravascular coagulation (DIC, 10.8%), deep vein thrombosis (8.2%), acrocyanosis (7.5%), and necrosis of the extremities (2%). DIC (adjusted odds ratio (aOR) 2.30, 95% confidence interval (CI) 1.01–5.24, P = 0.046) and acrocyanosis (aOR 5.21, 95% CI 1.48–18.27, P = 0.009) were significantly more prevalent in the non-survivors than in the survivors group. CONCLUSION: Vascular complications in critically ill COVID-19 patients are common (23.6%) and can be closely related to the mortality rate (56.3%) until 30 days after ICU admission. Macrovascular complications have direct implications for mortality, which is the main outcome of the management of COVID-19. REGISTRATION: RBR-4qjzh7 (https://ensaiosclinicos.gov.br/rg/RBR-4qjzh7).

ABSTRACT The present study explored the predictive values of milk leukocyte differentials (MLD) as a basis for improving the diagnosis of intramammary infections (IMIs) and subclinical mastitis. Quarter milk samples were collected for bacteriological analysis, quarter somatic cell count (qSCC), and MLD. The MLD were assessed using the cytospin technique, direct microscopic smears, and flow cytometry. The predictive values of each single leukocyte population and useful potential indices that could better reflect immune complexity were also calculated. Changes in the percentage of any leukocyte alone failed to substantially improve the predictive value of qSCC in diagnosing IMIs. Although certain parameters increased the area under the receiver operating characteristic curve (ROC curve) as a result of increased specificity values, a slight reduction in sensitivity was observed. The so-called CD8 complex was a unique parameter which improved both the sensitivity (78.79 %) and the specificity (80.77 %) in IMI diagnosis, resulting in the highest area under the ROC curve (0.87). To diagnose subclinical mastitis, the percentage of macrophages and the sum of the percentage PMNLs and T CD8+ cells divided by the percentage of macrophages showed the highest predictive values (sensitivity = 79.63, specificity = 73.68, and area under the ROC curve = 0.83) in the differentiation of the inflammatory condition status of cows. In conclusion, this study provides further insights into using T CD8+ lymphocytes in diagnosing bovine IMIs, combined with PMNLs and macrophages. The antidromic trend of macrophages vs. PMNLs and T CD8+ lymphocytes due to the increasing qSCCs was crucial to differentiating quarters under both inflammatory and non-inflammatory conditions.

ABSTRACT Erythema multiforme (EM), an immune-mediated skin condition, can occur after infection or following the use of medications. In this study, we describe a patient who developed EM after nirmatrelvir/ritonavir administration. An 81-year-old woman presented with fever and dyspnea. Laboratory investigations showed positive coronavirus disease (COVID-19) based on polymerase chain reaction assay, and she received a 5-day regimen of nirmatrelvir/ritonavir. We observed development of EM after this treatment and initiated prednisone (1 mg/kg) therapy, which led to rapid improvement. Our study is the first to report EM in a patient with COVID-19, who received nirmatrelvir/ritonavir and showed a favorable response.

SUMMARY OBJECTIVE: Cancer imposes a profound burden on low- and middle-income countries where 65% of the global cancer deaths occurred in 2020. The objective of the present review was to describe female cancer epidemiology in Brazil, barriers to prevention, screening, and treatment, and to propose strategies to a better control. METHODS: For the process of literature search and scientific acquisition, we have utilized the terms “female cancer” AND “breast cancer,” AND “cervical cancer” AND “endometrial cancer” AND “ovarian cancer” AND “Brazil” in PubMed. References of the articles included in this review were manually searched in order to identify relevant studies on the topic. The official Brazilian epidemiology data were extensively analyzed at the governmental site www.inca.gov.br. RESULTS: Considering cases of breast and gynecologic cancers together, 105,770 new cases are expected to be diagnosed yearly, positioning female cancer as the highest cancer incidence in Brazil. Female breast cancer is the most common and the leading cause of death from cancer in the female population in all regions of Brazil, except in the North, where cervical cancer ranks first. Cervical cancer, a preventable disease, corresponds to the third-most common neoplasia in women, with higher incidences in the North and Northeast regions of Brazil. An upward trend has been observed in endometrial cancer incidence, a tendency that follows the increase of its two most common risk factors: population aging and obesity. Ovarian cancer currently occupies the eighth position among female cancers in Brazil, but it is the most lethal gynecologic cancer. The main strategies to reduce female cancer mortality rates are the reduction of inequalities in healthcare services and the early diagnosis of cases. The lack of a specific national cancer program results in a reactive and unplanned approach to healthcare provision, ultimately leading to suboptimal resource utilization and higher expenditure. CONCLUSION: Analyzed together, breast and gynecologic cancers correspond to the leading cause of cancer in Brazil. A heterogeneous group, female cancer includes diseases with a high primary and secondary prevention potential. The organization of a female cancer program in Brazil prioritizing primary and secondary prevention strategies, such as adequate mammography screening and human papillomavirus vaccination coverage, could significantly improve female cancer control in the country.

Abstract The Brazilian Journal of Occupational Health (RBSO) is a reference journal within the occupational health and safety community. It is dedicated to publishing scientific articles that contribute to the critical analysis of current and pertinent issues concerning the relationship between work and health. In 2023, RBSO celebrates its 50th anniversary. This editorial note is dedicated to reporting on the commemorative event, describing the main topics covered in the presentations and discussions, with the aim of documenting this important moment, which can be considered a milestone for celebrating the past and building the future of RBSO. This event offered a crucial opportunity not only to celebrate RBSO’s five decades of existence but also to bring together a community deeply committed to scientific publishing in the field of occupational health. It brought valuable reflections, proposals, and recommendations aimed at strengthening both the journal and the field it represents. The presence and active participation of the editorial team, along with the invited attendees, played an indispensable role in the success of this gathering. During this event, RBSO reaffirmed its dedication to keep enhancing its editorial standards, drawing from the experiences and ideas that have been discussed.

Resumo A Revista Brasileira de Saúde Ocupacional (RBSO) é um periódico considerado referência pela comunidade da área de segurança e saúde do trabalhador, sendo veículo dedicado à publicação de artigos científicos que contribuam para a reflexão e análise científica de questões atuais e relevantes relacionadas às relações entre trabalho e saúde. Em 2023, a RBSO completa 50 anos de existência. Esta nota editorial dedica-se a relatar o evento comemorativo, descrevendo os principais aspectos abordados nas apresentações e nos debates ocorridos, com vistas a registrar este importante momento, que pode ser considerado um marco para celebrar o passado e construir o futuro da revista. Tal evento foi uma oportunidade crucial, não somente para celebrar o meio século de existência da RBSO, mas também para propiciar o encontro de uma comunidade dedicada à publicação científica em saúde do trabalhador, que proporcionou reflexões, propostas e recomendações voltadas ao fortalecimento da revista e do campo. A presença e o envolvimento da equipe editorial, bem como dos convidados, foram fundamentais para o sucesso desse encontro, durante o qual a RBSO reafirmou o compromisso com a busca contínua por aprimoramento editorial, a partir das experiências e ideias debatidas.

Abstract Background Decreased walking ability in patients with peripheral arterial disease is often a clinical problem and limits the quality of life and daily activities of these subjects. physical exercise is important in this scenario, as it improves both the daily walking distance and the ability to withstand intermittent claudication related to the limitations of the peripheral disease. Objectives Our aim was to compare the effects of two types of exercise training (aerobic training and aerobic training combined with resistance exercises) on pain-free walking distance (PFWD) and health-related quality of life (HRQoL) in a sample composed of patients with peripheral artery disease (PAD). Methods Twenty patients with claudication symptoms were randomized to either aerobic control (AC) N= 9, or combined training (CT) N= 8, (24 sixty-minute sessions, twice a week). The total walking distance until onset of pain due to claudication was assessed using the 6-minute walk test and HRQoL was measured using the WHOQOL-bref questionnaire (general and specific domains) at baseline and after training. We used generalized estimating equations (GEE) to assess the differences between groups for the PFWD and HRQoL domains, testing the main group and time effects and their respective interaction effects. P values < 0.05 were considered statistically significant. Results Seventeen patients (mean age 63±9 years; 53% male) completed the study. Both groups experienced improvement in claudication, as reflected by a significant increase in PFWD: AC, 149 m to 299 m (P<0.001); CT, 156 m to 253 m (P<0.001). HRQoL domains also improved similarly in both groups (physical capacity, psychological aspects, and self-reported quality of life; P=0.001, P=0.003, and P=0.011 respectively). Conclusions Both aerobic and combined training similarly improved PFWD and HRQoL in PAD patients. There are no advantages in adding strength training to conventional aerobic training. This study does not support the conclusion that combined training is a good strategy for these patients when compared with classic training.

Resumo Contexto A diminuição da capacidade de marcha em pacientes com doença arterial periférica é frequentemente um problema clínico e limita a qualidade de vida e as atividades diárias desses indivíduos. O exercício físico é importante nesse cenário, pois melhora tanto a distância caminhada diária quanto a capacidade de suportar a claudicação intermitente relacionada às limitações da doença periférica. Objetivos Comparar os efeitos do treinamento aeróbico (TA) e do treinamento aeróbico combinado com exercícios de resistência (TC) na distância percorrida livre de dor (DPLD) e na qualidade de vida relacionada à saúde (QVRS) em pacientes com doença arterial periférica (DAP). Métodos Vinte pacientes com sintomas de claudicação foram randomizados para TA ou TC. Os treinamentos foram realizados em 24 sessões, duas vezes por semana. A DPLD foi avaliada por meio do teste de caminhada de 6 minutos, e a QVRS foi medida pelo instrumento da avaliação de qualidade de vida da Organização Mundial da Saúde (WHOQOL-BREF), no início e após o treinamento. Para avaliar as diferenças entre os grupos para DPLD e os domínios da QVRS, foi utilizado o modelo de equações de estimativa generalizada, testando os efeitos principais do grupo e tempo, bem como os respectivos efeitos de interação. Valores de p < 0,05 foram considerados estatisticamente significativos. Resultados Dezessete pacientes (idade média: 63±9 anos; 53% do sexo masculino) completaram o estudo. Ambos os grupos apresentaram melhora na claudicação, refletida por um aumento significativo na DPLD: grupo controle aeróbico - de 149 m para 299 m (P < 0,001); grupo de treinamento combinado - de 156 m para 253 m (P < 0,001). Os domínios da QVRS também melhoraram de forma semelhante em ambos os grupos (capacidade física, aspectos psicológicos e qualidade de vida autorreferida; P = 0,001, P = 0,003 e P = 0,011, respectivamente). Conclusões Ambos os treinamentos melhoraram de forma semelhante a DPLD e a QVRS em pacientes com DAP. Não há vantagens em associar o treinamento de força ao treinamento aeróbico convencional. O estudo não permite concluir que o TC é uma boa estratégia para esses pacientes quando comparado ao treinamento clássico.

ABSTRACT Background: The aim of this research is to optimize the routing of Brazil nut harvesting in order to reduce labor costs and promote an equitable redistribution of placements among extractive interests. The study area was located in the Tahuamanu province, designated a Biosphere Reserve by UNESCO, in the Madre de Dios region of Peru. Planning for harvesting activities is vital to support sustainable use of the tropical forest by extractive communities, generating profit while minimizing adverse impacts on the forest. A location-allocation model was used to redistribute extraction placement areas, taking into account the number of trees and productivity for analysis. To optimize the order of nut load pickups at the placement areas, the vehicle routing problem (VRP) was used to minimize real distance and reduce traversal time. Results: The time taken to cover the route without delays was 08:46’, which is superior to the time taken to minimize the distance. However, the total delay time was 05:10’. Conclusion: Network analyses were effective in achieving the reallocation of placement areas and optimizing Brazil nut harvest routes.

Abstract The objective of this work was to evaluate the antimicrobial activity of four new potassium monopersulfate-based products on bacterial biofilms associated with avian infections, in order to disinfect drinking fountains in poultry farms. Initially, tests were performed in planktonic bacterial cells, to verify the antimicrobial activity and the minimum inhibitory concentration of the products, named PA, PB, PC, and PD. These products were tested on mature biofilms of the avian pathogens Escherichia coli, Salmonella enterica subsp. enterica serovar Enteritidis, and Listeria monocytogenes, grown on specimens preserved in acrylic blocks, by counting colony-forming units, scanning electron microscopy, and confocal fluorescence microscopy. All products were effective against the evaluated bacterial species. The PA and PB products inhibited the bacterial growth at ≤ 0.13% concentrations, and PC and PD showed the same effect at ≤ 0.25% concentrations. Furthermore, the PA product was able to eliminate mature biofilms of S. enterica subsp. enterica serovar Enteritidis and L. monocytogenes. The evaluated monopersulfate-based products, notably PA, are effective against bacterial biofilms associated with avian infections and show potential as sanitizers and disinfectants for drinking fountains in poultry farms.

Resumo O objetivo deste trabalho foi avaliar a atividade antimicrobiana de quatro novos produtos à base de monopersulfato de potássio em biofilmes bacterianos associados a infecções aviárias, para a desinfecção de bebedouros em granjas avícolas. Inicialmente, realizaram-se testes em células bacterianas planctônicas, para verificar a atividade antimicrobiana e a concentração inibitória mínima dos produtos, denominados PA, PB, PC e PD. Esses produtos foram testados em biofilmes maduros dos patógenos aviários Escherichia coli, Salmonella enterica subsp. enterica serovar Enteritidis e Listeria monocytogenes, cultivados em espécimes preservados em blocos de acrílico, por meio da contagem de unidades formadoras de colônias, por microscopia eletrônica de varredura e por microscopia de fluorescência confocal. Todos os produtos foram eficazes contra as espécies bacterianas avaliadas. Os produtos PA e PB inibiram o crescimento bacteriano em concentrações ≤ 0,13%, e PC e PD apresentaram o mesmo efeito em concentrações ≤ 0,25%. Além disso, o produto PA foi capaz de eliminar os biofilmes maduros de S. enterica subsp. enterica serovar Enteritidis e L. monocytogenes. Os produtos à base de monopersulfato de potássio avaliados, notadamente o PA, são eficazes contra biofilmes bacterianos associados a infecções aviárias e apresentam potencial como sanitizantes e desinfetantes em bebedouros de granjas avícolas.

SUMMARY: The anatomy study is part of the basic cycle of disciplines that composes Veterinary Medicine college curriculum, and its comprehension is essential for other courses subject understanding. However, the current student’s profile, the reduced time frame of superior education programs, and the multidisciplinary approach nowadays have made anatomy teaching method outdated and ineffective. Addressing the problem we developed an interactive and multidisciplinary platform based on the blended learning methodology, which could serve as a valuable tool for bovine neuroanatomy comprehension. To produce a new study tool, photos from bovine specimens fixed in formaldehyde, platinated brain pieces sectioned in a metameric order, as well as histological slides of the bovine central nervous system were used. These materials were applied to photos and schemes production, that were correlated with image exams correlation, as well as written content and videotaped classes. The obtained content was compiled into a digital platform, that can serve as an effective additional method to bovine central nervous system study. Furthermore, our results serve as a guide for the development of other blended learning methodologies in veterinary medicine and anatomy teaching. The platform provides a great tool for those who wish to accomplish a better understanding of bovine neuroanatomy and its clinical, surgical and image diagnosis correlations.

RESUMEN: El estudio de la anatomía forma parte del ciclo básico de disciplinas que componen el currículo de la facultad de Medicina Veterinaria, y su comprensión es fundamental para el entendimiento de las materias de otros cursos. Sin embargo, el perfil del estudiante actual, la reducción de los tiempos de los programas de educación superior y el enfoque multidisciplinario actual han hecho que el método de enseñanza de la anatomía sea obsoleto e ineficaz. Abordando el problema desarrollamos una plataforma interactiva y multidisciplinar basada en la metodología blended learning, que podría servir como una valiosa herramienta para la comprensión de la neuroanatomía bovina. Para producir una nueva herramienta de estudio, se utilizaron fotografías de especímenes bovinos fijados en formaldehído, piezas de cerebro plastinadas y seccionadas en un orden metamérico, así como láminas histológicas del sistema nervioso central bovino. Estos materiales se utilizaron en la producción de fotos y esquemas, que se correlacionaron con exámenes de imágenes, así como contenido escrito y clases grabadas en video. El contenido obtenido se compiló en una plataforma digital, que puede servir como un método adicional y eficaz para el estudio del sistema nervioso central bovino. Además, nuestros resultados sirven como guía para el desarrollo de otras metodologías de aprendizaje semipresencial en la enseñanza de la medicina veterinaria y la anatomía. La plataforma proporciona una gran herramienta para aquellos que deseen lograr una mejor comprensión de la neuroanatomía bovina y sus correlaciones clínicas, quirúrgicas y de diagnóstico por imágenes.

Abstract Professor Jean-Martin Charcot was the founder of clinical neurology and one of the prominent researchers in the field of hysteria in the 19th century. His bookLes démoniaques dans l'art is a representation of hysterical symptoms in religion and religious art. This paper aims to discuss Charcot's descriptions of hysteria in religion and his “hysterical saints”.

Resumo Professor Jean-Martin Charcot foi o fundador da neurologia clínica e um dos pesquisadores mais proeminentes no campo da histeria durante o século XIX. Seu livroLes démoniaques dans l'art é uma representação dos sintomas histéricos na religião e arte religiosa. Esse artigo objetiva discutir as descrições de Charcot de histeria na religião e seus “santos histéricos”.

ABSTRACT Rubinstein-Taybi syndrome is a rare disorder characterized by craniofacial dysmorphisms, thumb and hallux alterations, associated with growth and mental deficiency. We describe a 25-year-old male patient, classically presenting the phenotypic features of the syndrome, who sought allergologic evaluation to assess the possibility of food allergy due to the presence of eosinophilic esophagitis. Evaluation with specific tests were normal. Further investigation showed a history of severe systemic infections that had not yet been properly screened, and laboratory investigation showed a deficiency in the production of Immunoglobulin G and its subclasses, as well as specific antibodies. He had no cytopenias, and lymphocyte immunophenotyping was normal. We aim to show that considering the recurrence of infections, notably severe ones requiring hospitalization, an adequate immunological evaluation should be performed in these patients.

RESUMO A síndrome de Rubinstein-Taybi é um raro distúrbio caracterizado por dismorfismos craniofaciais, alterações dos polegares e hálux, associado a deficiência do crescimento e mental. Descrevemos paciente masculino, 25 anos, apresentando classicamente as características fenotípicas da síndrome, que procurou avaliação alergológica, para a possibilidade de alergia alimentar, devido a presença de quadro de esofagite eosinofílica. Avaliação com exames específicos foram normais. Aprofundamento da investigação mostrou história de graves infecções sistêmicas ainda não devidamente rastreadas, e investigação laboratorial evidenciou deficiência na produção de Imunoglobulina G e de suas subclasses, bem como de anticorpos específicos. Não apresentava citopenias, e imunofenotipagem de linfócitos foi normal. Objetivamos mostrar que considerando a recorrência de infecções, notadamente graves necessitando de hospitalização, uma adequada avaliação imunológica deve ser realizada nesses pacientes.