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This study aimed to evaluate the presence and viability of Toxoplasma gondii in chickens intended for human consumption in the Pernambuco State, Brazil. Blood and tissue samples were collected from 25 chickens sold in markets in Recife, Pernambuco. Samples were evaluated by indirect immunofluorescence assay (IFA) to detect antibodies to T. gondii. Pools of brain and heart of seropositive chickens were subjected to bioassay in two Swiss Webster mice, which were evaluated for 45 days then tested by IFA to detect seroconversion. The mice were euthanized, and their brains were evaluated for cysts. Peritoneal lavage was also conducted in mice that exhibited clinical signs. Brains containing cysts or peritoneal lavage with tachyzoites were inoculated into MA-104 cells. Brains of mice inoculated with the same tissue were pooled and analysed by ITS1-PCR. We obtained a frequency of antibodies to T. gondii of 68.00% (17/25) in chickens, and a seroconversion rate of 70.58% (24/34) in mice. Detection of Toxoplasma ITS1 DNA confirmed an isolation rate of 41.1% (7/17). Three isolates were characterized by mnPCR-RFLP as genotypes ToxoDB#36 and ToxoDB#114. We highlight the occurrence of ToxoDB#36 in chickens in Pernambuco State and the parasites' viability in chickens intended for human consumption.

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BACKGROUND: Treatments for allergic rhinitis include intranasal or oral medications. OBJECTIVE: To perform a systematic review with meta-analysis comparing the effectiveness of intranasal corticosteroids or antihistamines versus oral antihistamines or leukotriene receptor antagonists in improving allergic rhinitis symptoms and quality of life. METHODS: We searched four bibliographic databases and three clinical trial datasets for randomised controlled trials (i) assessing patients ≥12 years old with seasonal or perennial allergic rhinitis, and (ii) comparing intranasal corticosteroids or antihistamines versus oral antihistamines or leukotriene receptor antagonists. We performed a meta-analysis of the Total Nasal Symptom Score (TNSS), Total Ocular Symptom Score (TOSS), Rhinoconjunctivitis Quality of Life Questionnaire (RQLQ), development of adverse events, and withdrawals due to adverse events. Certainty of evidence was assessed using GRADE. RESULTS: We included 35 studies, most of which assessed patients with seasonal allergic rhinitis and displayed an unclear risk of bias. Superiority of intranasal treatments was found for all assessed outcomes. Intranasal corticosteroids were more effective than oral antihistamines at improving the TNSS (MD=-0.86; 95%CI=-1.21;-0.51; I2=70%), TOSS (MD=-0.36; 95%CI=-0.56;-0.17; I2=0%) and RQLQ (MD=-0.88; 95%CI=-1.15;-0.61; I2=0%), being mostly associated with clinically meaningful improvements. Superiority of intranasal corticosteroids at improving the TNSS was also found against oral leukotriene receptor antagonists (MD=-1.05; 95%CI=-1.33;-0.77). Intranasal antihistamines were more effective than oral antihistamines at improving the TNSS (MD=-0.47; 95%CI=-0.81;-0.14; I2=0%) and RQLQ (MD=-0.31; 95%CI=-0.56;-0.06; I2=0%). CONCLUSIONS: Randomized controlled trials suggest that intranasal treatments are more effective than oral treatments at improving symptoms and quality of life in seasonal allergic rhinitis.

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Importance: While direct penicillin challenges might support the expansion of penicillin allergy delabeling efforts, the perceived risk of reactions remains a key barrier. Objective: To evaluate the frequency of reactions to direct penicillin challenges in individuals with penicillin allergy labels and to identify factors associated with such reactions. Data Sources: Three electronic databases were searched (MEDLINE, Web of Science, and Scopus) from inception to July 19, 2023, for primary studies assessing patients undergoing direct penicillin challenges. Articles were included regardless of publication year, language, status, or definition of allergy risk. Study Selection: Two reviewers independently selected original studies reporting the frequency of immunologically mediated reactions following a direct penicillin challenge in patients reporting a penicillin allergy. Data Extraction and Synthesis: Two reviewers independently extracted data and independently assessed the quality of each primary study using a risk-of-bias tool for prevalence studies. Main Outcomes and Measures: The primary outcome was the frequency of reactions to direct penicillin challenges as calculated using random-effects bayesian meta-analysis of proportions. Secondary outcomes included risk factors for reactions and the frequency of severe reactions. Results: A total of 56 primary studies involving 9225 participants were included. Among participants, 438 experienced reactions to direct penicillin challenges without prior testing, corresponding to an overall meta-analytic frequency of 3.5% (95% credible interval [CrI], 2.5%-4.6%). Meta-regression analyses revealed that studies performed in North America had lower rates of reaction to direct challenges (odds ratio [OR], 0.36; 95% CrI, 0.20-0.61), while studies performed in children (OR, 3.37; 95% CrI, 1.98-5.98), in outpatients (OR, 2.19; 95% CrI, 1.08-4.75), and with a graded (OR, 3.24; 95% CrI, 1.50-7.06) or prolonged (OR, 5.45; 95% CrI, 2.38-13.28) challenge had higher rates of reaction. Only 5 severe reactions (3 anaphylaxis, 1 fever with rash, and 1 acute kidney injury) were reported, none of which were fatal. Conclusions and Relevance: This systematic review and meta-analysis found that reactions to direct penicillin challenges are infrequent, with rates comparable to indirect challenges after allergy testing. These findings suggest that direct challenges are safe for incorporation into penicillin allergy evaluation efforts across age groups and clinical settings.

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BACKGROUND: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is a rare autosomal dominant disease caused by mutations in KIF11 which disrupt EG5 protein function, impacting the development and maintenance of retinal and lymphatic structures due to its expression in the retinal photoreceptor cilia. The primary ocular finding in MCLMR is chorioretinopathy. Additional features can include microphthalmia, angle-closure glaucoma, persistent hyperplastic primary vitreous, cataract, pseudo-coloboma, persistent hyaloid artery, and myopic or hypermetropic astigmatism. The appearance of the chorioretinal lesions as white to pinkish, round, non-elevated atrophic areas devoid of blood vessels resembles the lacunae in Aicardy syndrome. Due to the lack of systematic description of the lesions and significant phenotypical variability, there is an impending need for a detailed report of each case. CASE PRESENTATION: A child with microcephaly detected in the third trimester of gestation began her following in the ophthalmology department due to a non-visually significant cataract. Shortly after, she developed nystagmus and large-angle alternating esotropia with cross-fixation. Her fundus initially showed a pallid optic disc and pigmentary changes, developing thereafter retinal lacunae and a retinal fold. Her differential diagnosis accompanied the dynamic changes in her fundus, which included congenital infections, Leber´s Congenital Amaurosis and Aicardy syndrome. At 19 months old, genetic testing identified a heterozygous mutation (c.1159 C > T, p.Arg387*) in the KIF11 gene. The patient underwent bilateral medial rectus muscle recession surgery at 2 years old for persistent esotropia, with significant improvement. Refraction revealed a hyperopic astigmatism in both eyes (+ 0.25 -2.50 × 180 OD and + 0.75 -2.00 × 170 OS). She continues to require right eye patching for 2 hours daily. CONCLUSIONS: This case report expands the phenotypic spectrum of MCLMR by demonstrating a unique combination of retinal features which sheds new light on differential diagnosis from Aicardy syndrome. Our findings emphasize the significant phenotypic variability associated with MCLMR, particularly regarding ocular involvement. This underscores the importance of detailed clinical evaluation and comprehensive reporting of cases to improve our understanding of the disease spectrum and genotype-phenotype correlations.

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INTRODUCTION: The safety of antiviral agents in real-world clinical settings is crucial, as pre-marketing studies often do not capture all adverse events (AE). Active pharmacovigilance strategies are essential for detecting and characterising these AE comprehensively. OBJECTIVE: The aim of this study was to identify and characterise active pharmacovigilance strategies used in real-world clinical settings for patients under systemic antiviral agents, focusing on the frequency of AE and the clinical data sources used. METHODS: We conducted a systematic review by searching three electronic bibliographic databases targeting observational prospective active pharmacovigilance studies, phase IV clinical trials for post-marketing safety surveillance, and interventional studies assessing active pharmacovigilance strategies, focusing on individuals exposed to systemic antiviral agents. RESULTS: We included 36 primary studies, predominantly using Drug Event Monitoring (DEM), with a minority employing sentinel sites and registries. Human immunodeficiency virus (HIV) was the most common condition, with the majority using DEM. Within the DEM, there was a wide range of incidences of patients experiencing at least one AE, and most of these studies used one or two data sources. Sentinel site studies were less common, with two on hepatitis C virus (HCV) and one on HIV, each relying on one or two data sources. The single study using a registry focusing on HIV therapy reported using just one data source. Patient interviews were the most common data source, followed by medical records and laboratory tests. The quality of the studies was considered 'good' in 18/36, 'fair' in 1/36, and 'poor' in 17/36 studies. CONCLUSION: DEM was the predominant pharmacovigilance strategy, employing multiple data sources, and appears to increase the likelihood of detecting higher AE incidence. Establishing such a framework would facilitate a more detailed and consistent approach across different studies and settings.

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OBJECTIVE: to investigate excessive daytime sleepiness prevalence among nursing technicians and the association with sleep quality and memory. METHODS: a cross-sectional, inferential study, carried out in a hospital unit in the state of Goiás between December 2020 and January 2021. Assessments were carried out using the Epworth Sleepiness Scale, the Pittsburgh Sleep Quality Index and the Prospective and Retrospective Memory Questionnaire, instruments validated for the Brazilian context. Bivariate and multivariate logistic regression analyzes were performed. RESULTS: the sample consisted of 189 nursing technicians with a 40.9% excessive daytime sleepiness prevalence. In multivariate models, excessive daytime sleepiness was not associated with sleep quality, however there was a significant association with overall memory failures. CONCLUSIONS: study results demonstrate a high excessive daytime sleepiness occurrence, an association with overall memory failures and the need for psychosocial interventions for nursing technicians.

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The red reflex test, performed using a direct ophthalmoscope, serves as a critical diagnostic tool in identifying various ocular conditions. These conditions encompass retinal anomalies (such as retinoblastoma, Coats disease, retinopathy of prematurity, familial exudative vitreoretinopathy, myelinated nerve fibers, ocular toxocariasis, ocular toxoplasmosis, retinochoroidal coloboma, astrocytic, and combined hamartoma), vitreous abnormalities (including persistent fetal vasculature), lens issues (like cataract), anterior chamber and corneal conditions (comprising dysgenesis of the anterior segment, congenital glaucoma, birth trauma), and tear film disturbances. During this examination, the presence of leukocoria, characterized by a white pupillary reflex, can suggest the presence of underlying conditions. Any suspicion of an abnormal red reflex test warrants immediate evaluation by a qualified ophthalmologist. This article primarily underscores the paramount importance of the red reflex examination, not only to identify potential sight-threateningbut also life-threatening conditions. It delves into the most common causes of leukocoria in childhood and offers insights into a comprehensive diagnostic approach. The target audience for this article includes pediatricians, primary care clinicians, and ophthalmologists, all of whom play a pivotal role in the early detection and intervention of these critical eye disorders.

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There is insufficient evidence regarding the comparative efficacy and safety of pharmacological treatments of allergic rhinitis (AR). In the context of informing the 2024 revision of the Allergic Rhinitis and its Impact on Asthma (ARIA) guidelines, we plan to perform three systematic reviews of randomized controlled trials (RCTs) comparing the desirable and undesirable effects (i) between intranasal and oral medications for AR; (ii) between combinations of intranasal and oral medications versus nasal or oral medications alone; and (iii) among different intranasal specific medications. We will search four electronic bibliographic databases and three clinical trials databases for RCTs examining patients ≥ 12 years old with seasonal or perennial AR. Assessed outcomes will include the Total Nasal Symptom Score, the Total Ocular Symptom Score, and the Rhinoconjunctivitis Quality-of-Life Questionnaire. We will assess the methodological quality of included primary studies by using the Cochrane risk-of-bias tool. If appropriate, we will perform a pairwise random-effects meta-analysis for each pair of assessed medication classes and outcomes, as well as a network meta-analysis to assess the comparative efficacy of intranasal medications among each other. Heterogeneity will be explored by sensitivity and subgroup analyses. This set of systematic reviews will allow for a comprehensive assessment of the effectiveness and safety of pharmacological interventions for AR and inform recommendations in the context of the ARIA guidelines.

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In brief: Conditioned medium from Wharton's jelly mesenchymal stem cells improved tissue and preantral follicle outcomes, preventing adverse effects of oxidative stress, apoptosis, and epigenetic changes. Abstract: This study investigated the methylation patterns of H3K4me3 and H3K9me3, as well as the mRNA expression of genes encoding the epigenetic regulators KDM1AX1, KDM1AX2, and KDM3A in goat preantral follicles developed in vivo (Uncultured control) or after in vitro culture for 7 days in either the absence (α-MEM+) or presence of conditioned medium (α-MEM+ + CM) from Wharton's jelly mesenchymal stem cells (WJ-MSCs). In the invivo setting, all follicular categories exhibited similar H3K4me3 and H3K9me3 patterns, and transcripts of KDM1AX1, KDM1AX2, and KDM3A were detected in all samples. During in vitro culture, α-MEM+ + CM enhanced several important aspects. It increased the percentage of normal growing follicles, oocyte diameters across all categories, stromal cell density, and the H3K4me3 methylation pattern in preantral follicles. Simultaneously, it decreased the levels of reduced thiols and reactive oxygen species in the spent media, diminished the presence of lipofuscin aggresomes, lowered granulosa cell apoptotic rates, and reduced the H3K9me3 methylation pattern in preantral follicles. In conclusion, the findings from this study provide compelling evidence that supplementing the in vitro culture medium (α-MEM+) with CM from WJ-MSCs has a protective effect on goat preantral follicles. Notably, CM supplementation preserved follicular survival, as evidenced by enhanced follicular and oocyte growth and increased stromal cell density when compared to the standard culture conditions in the α-MEM+ medium. Furthermore, CM reduced oxidative stress and apoptosis and promoted alterations in H3K4me3 and H3K9me3 patterns.

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With the increasing concomitant demands for Brazilian beef and in particular high-quality beef, there is a need for observational studies of the effects of pre- and post-slaughter practices on beef carcass traits. We hypothesized in our case study that pre-slaughter transport of bovines over significant distances would induce stress in animals, and that this would reduce carcass quality because of higher pH resulting from long-distance transportation. To test this hypothesis, 30,230 Nellore carcasses from a private slaughterhouse were evaluated 24 h postmortem. Analysis showed correlations between animal maturity, ultimate pH, distance, and carcass weight. More precisely, there was a slight positive correlation between ultimate pH and weight (but not with transportation distance) and a slight positive correlation between maturity and weight. A linear regression model (R2 = 0.016) failed to show distance having a significant effect on ultimate pH (P = 0.63), while carcass weight significantly affected ultimate pH (P < 0.001) with a low coefficient of 0.0003. Maturity negatively affected ultimate pH also (P < 0.001) but with also a small effect (-0.0008). Results (from 95% confidence intervals of variance of the random effects and of the random errors) showed that the variability within farms was higher than between farms. The linear mixed model showed that maturity had a significant effect on carcass weight value (P < 0.001) with a large coefficient of 2.90. The R2 of the linear mixed model was 46.03%. In conclusion, while weight and maturity both affect ultimate pH, long distances did not significantly impact ultimate pH and therefore the beef quality from Nellore cattle. This could be because of low stress during transport, as well as the physical characteristics of the Nellore breed that favor greater resistance to tropical climatic conditions.

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BACKGROUND: There is insufficient systematized evidence on the effectiveness of individual intranasal medications in allergic rhinitis (AR). OBJECTIVES: We sought to perform a systematic review to compare the efficacy of individual intranasal corticosteroids and antihistamines against placebo in improving the nasal and ocular symptoms and the rhinoconjunctivitis-related quality of life of patients with perennial or seasonal AR. METHODS: The investigators searched 4 electronic bibliographic databases and 3 clinical trials databases for randomized controlled trials (1) assessing adult patients with seasonal or perennial AR and (2) comparing the use of intranasal corticosteroids or antihistamines versus placebo. Assessed outcomes included the Total Nasal Symptom Score, the Total Ocular Symptom Score, and the Rhinoconjunctivitis Quality-of-Life Questionnaire. The investigators performed random-effects meta-analyses of mean differences for each medication and outcome. The investigators assessed evidence certainty using the GRADE (Grading of Recommendations, Assessment, Development and Evaluation) approach. RESULTS: This review included 151 primary studies, most of which assessed patients with seasonal AR and displayed unclear or high risk of bias. Both in perennial and seasonal AR, most assessed treatments were more effective than placebo. In seasonal AR, azelastine-fluticasone, fluticasone furoate, and fluticasone propionate were the medications with the highest probability of resulting in moderate or large improvements in the Total Nasal Symptom Score and Rhinoconjunctivitis Quality-of-Life Questionnaire. Azelastine-fluticasone displayed the highest probability of resulting in moderate or large improvements of Total Ocular Symptom Score. Overall, evidence certainty was considered "high" in 6 of 46 analyses, "moderate" in 23 of 46 analyses, and "low"/"very low" in 17 of 46 analyses. CONCLUSIONS: Most intranasal medications are effective in improving rhinitis symptoms and quality of life. However, there are relevant differences in the associated evidence certainty.

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The rapid expansion of Uber Technologies, Inc.'s ride-sharing, courier service, and food delivery system and e-hailing applications has been transforming the logistics network and urban mobility around the world. We aimed to evaluate the impact of the Uber system on traffic injury (TI) mortality during its implementation in Brazilian capital cities. A quasiexperimental design of interrupted time series was used. The monthly mortality rates for TI standardized by age were analyzed. The date of availability of the Uber app, specific to each capital, was considered the start date. Data from the Brazilian Mortality Information System and the Brazilian Institute of Geography and Statistics were used. For the data analysis, from an interrupted time-series design, autoregressive integrated moving average (ARIMA) models with a transfer function were fitted. In 92.6% (n = 25) of Brazilian capitals, there was no impact of Uber system implementation, 12 months after the start of its activities, on TI mortality. A reduction in mortality from this cause was observed after the system was implemented in Belo Horizonte and Rio de Janeiro. The impact on TI mortality was progressive and continuous in both. More studies are needed to establish the factors associated with the inequalities observed in the impact of Uber system implementation between different locations and the heterogeneity of effects.

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In January 2024, a child was diagnosed with measles in a paediatric hospital in Lisbon. Of 123 contacts, 39 (32%) were not fully immunised, presenting a risk for a potential outbreak. The public health unit initiated control measures and identified challenges during the response, such as the lack of interoperability between information systems and accessing vaccination records. The lessons learned prompted changes to national contact tracing procedures for measles, further strengthening Portugal's preparedness.

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OBJECTIVE: To assess sleep quality and the association of trait and state anxiety in patients with diabetes mellitus. METHOD: A cross-sectional, quantitative, and analytical study was conducted between January and April 2022, at the reference center for hypertension and diabetes in Rio Verde, Goiás, with 81 patients. The Pittsburgh Sleep Quality Index and State-Trait Anxiety Inventory were used for data collection. Analyses included the Student's t-test and multivariate logistic regression analysis. RESULTS: Of patients, 64.2% reported poor sleep quality. There were significant differences in trait anxiety levels between patients with good and poor sleep quality. Trait anxiety was associated with sleep quality, with an increase in the trait anxiety score increasing the chances of poor sleep quality. CONCLUSION: A significant proportion of the sample had poor sleep quality, and trait anxiety was found to be associated with this condition.

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PURPOSE: This study assessed medication patterns for inpatients at a central hospital in Portugal and explored their relationships with clinical outcomes in COVID-19 cases. METHODS: A retrospective study analyzed inpatient medication data, coded using the Anatomical Therapeutic Chemical classification system, from electronic patient records. It investigated the association between medications and clinical severity outcomes such as ICU admissions, respiratory/circulatory support needs, and hospital discharge status, including mortality (identified by ICD-10-CM/PCS codes). Multivariate analyses incorporating demographic data and comorbidities were used to adjust for potential confounders and understand the impact of medication patterns on disease progression and outcomes. RESULTS: The analysis of 2688 hospitalized COVID-19 patients (55.3% male, average age 62.8 years) revealed a significant correlation between medication types and intensity and disease severity. Cases requiring ICU admission or ECMO support often involved blood and blood-forming organ drugs. Increased use of nervous system and genitourinary hormones was observed in nonsurvivors. Corticosteroids, like dexamethasone, were common in critically ill patients, while tocilizumab was used in ECMO cases. Medications for the alimentary tract, metabolism, and cardiovascular system, although widely prescribed, were linked to more severe cases. Invasive mechanical ventilation correlated with higher usage of systemic anti-infectives and musculoskeletal medications. Trends in co-prescribing blood-forming drugs with those for acid-related disorders, analgesics, and antibacterials were associated with intensive interventions and worse outcomes. CONCLUSIONS: The study highlights complex medication regimens in managing severe COVID-19, underscoring specific drug patterns associated with critical health outcomes. Further research is needed to explore these patterns.

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In the era of personalized medicine, pharmacovigilance faces new challenges and opportunities, demanding a shift from traditional approaches. This article delves into the evolving landscape of drug safety monitoring in the context of personalized treatments. We aim to provide a succinct reflection on the intersection of tailored therapeutic strategies and vigilant pharmacovigilance practices. We discuss the integration of pharmacogenetics in enhancing drug safety, illustrating how genetic profiling aids in predicting drug responses and adverse reactions. Emphasizing the importance of phase IV-post-marketing surveillance, we explore the limitations of pre-marketing trials and the necessity for a comprehensive approach to drug safety. The article discusses the pivotal role of pharmacogenetics in pre-exposure risk management and the redefinition of pharmacoepidemiological methods for post-exposure surveillance. We highlight the significance of integrating patient-specific genetic profiles in creating personalized medication leaflets and the use of advanced computational methods in data analysis. Additionally, we examine the ethical, privacy, and data security challenges inherent in precision medicine, emphasizing their implications for patient consent and data management.

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ABSTRACT Objective: To assess sleep quality and the association of trait and state anxiety in patients with diabetes mellitus. Method: A cross-sectional, quantitative, and analytical study was conducted between January and April 2022, at the reference center for hypertension and diabetes in Rio Verde, Goiás, with 81 patients. The Pittsburgh Sleep Quality Index and State-Trait Anxiety Inventory were used for data collection. Analyses included the Student's t-test and multivariate logistic regression analysis. Results: Of patients, 64.2% reported poor sleep quality. There were significant differences in trait anxiety levels between patients with good and poor sleep quality. Trait anxiety was associated with sleep quality, with an increase in the trait anxiety score increasing the chances of poor sleep quality. Conclusion: A significant proportion of the sample had poor sleep quality, and trait anxiety was found to be associated with this condition.

RESUMEN Objetivo: Analizar la calidad del sueño y la asociación con ansiedad rasgo y estado en pacientes con diabetes mellitus. Método: Estudio transversal, cuantitativo y analítico realizado entre enero y abril de 2022, en el centro de referencia en hipertensión y diabetes de Rio Verde - Goiás, con 81 pacientes. Para recopilar datos se utilizaron el Índice de Calidad del Sueño de Pittsburgh y el Inventario de Ansiedad Estado-Rasgo. Los análisis incluyeron pruebas t de Student y regresión logística multivariada. Resultados: De los pacientes, el 64,2% refirió mala calidad del sueño. Hubo diferencias significativas en los niveles de ansiedad rasgo entre pacientes con buena y mala calidad del sueño. La ansiedad rasgo se asoció con la calidad del sueño, y un aumento en la puntuación de ansiedad rasgo aumenta las posibilidades de una mala calidad del sueño. Conclusión: Una proporción significativa de la muestra tenía mala calidad del sueño y la ansiedad rasgo se asoció con esta condición.

RESUMO Objetivo: Analisar a qualidade do sono e a associação com a ansiedade traço e estado em pacientes com diabetes mellitus. Método: Estudo transversal, quantitativo e analítico realizado entre janeiro e abril de 2022, no centro de referência em hipertensão e diabetes de Rio Verde - Goiás, com 81 pacientes. Utilizou-se o Índice de Qualidade do Sono de Pittsburgh e o Inventário de Ansiedade Traço-Estado para coleta de dados. Análises incluíram testes T de Student e regressão logística multivariada. Resultados: Dos pacientes, 64,2% relataram qualidade do sono ruim. Houve diferenças significativas nos níveis de ansiedade traço, entre pacientes com boa e ruim qualidade do sono. A ansiedade traço associou-se com a qualidade do sono, sendo que o aumento no escore de ansiedade traço aumentou as chances de qualidade do sono ruim. Conclusão: Uma proporção significativa da amostra apresentou qualidade do sono ruim, e a ansiedade traço associou-se com essa condição.

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ABSTRACT Objective: to investigate excessive daytime sleepiness prevalence among nursing technicians and the association with sleep quality and memory. Methods: a cross-sectional, inferential study, carried out in a hospital unit in the state of Goiás between December 2020 and January 2021. Assessments were carried out using the Epworth Sleepiness Scale, the Pittsburgh Sleep Quality Index and the Prospective and Retrospective Memory Questionnaire, instruments validated for the Brazilian context. Bivariate and multivariate logistic regression analyzes were performed. Results: the sample consisted of 189 nursing technicians with a 40.9% excessive daytime sleepiness prevalence. In multivariate models, excessive daytime sleepiness was not associated with sleep quality, however there was a significant association with overall memory failures. Conclusions: study results demonstrate a high excessive daytime sleepiness occurrence, an association with overall memory failures and the need for psychosocial interventions for nursing technicians.

RESUMEN Objetivo: investigar la prevalencia de somnolencia diurna excesiva entre técnicos de enfermería y la asociación con la calidad del sueño y la memoria. Métodos: estudio transversal, inferencial, realizado en una unidad hospitalaria del estado de Goiás entre diciembre de 2020 y enero de 2021. Las evaluaciones se realizaron mediante la Epworth Sleepiness Scale, Pittsburgh Sleep Quality Index y Prospective and Retrospective Memory Questionnaire, instrumentos validados para el contexto brasileño. Se realizaron análisis de regresión logística bivariados y multivariados. Resultados: la muestra estuvo compuesta por 189 técnicos de enfermería con una prevalencia de 40,9% de somnolencia diurna excesiva. En modelos multivariados, la somnolencia diurna excesiva no se asoció con la calidad del sueño, sin embargo, hubo una asociación significativa con fallas generales de memoria. Conclusiones: los resultados del estudio demuestran una alta ocurrencia de somnolencia diurna excesiva, asociación con fallas de memoria general y la necesidad de intervenciones psicosociales para los técnicos de enfermería.

RESUMO Objetivo: investigar a prevalência de sonolência diurna excessiva entre técnicos de enfermagem e a associação com a qualidade do sono e memória. Métodos: estudo transversal, inferencial, realizado em uma unidade hospitalar no estado de Goiás entre dezembro de 2020 e janeiro de 2021. As avaliações foram realizadas por meio da Epworth Sleepiness Scale, do Pittsburgh Sleep Quality Index e da Prospective and Retrospective Memory Questionnaire, instrumentos validados para o contexto brasileiro. Foram realizadas análises de regressão logística bivariada e multivariada. Resultados: a amostra composta por 189 técnicos de enfermagem com prevalência de 40,9% de sonolência diurna excessiva. Em modelos multivariados, a sonolência diurna excessiva não associou com a qualidade do sono, no entanto houve associação significativa com falhas de memória geral. Conclusões: os resultados do estudo demonstram elevada ocorrência de sonolência diurna excessiva, associação com falhas de memória geral e a necessidade de intervenções psicossociais para técnicos de enfermagem.

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PURPOSE: We report a case of Hermansky-Pudlak Syndrome type 7 (HPS-7) caused by a homozygous variant in the dystrobrevin-binding protein 1 gene (DTNBP1) and highlight the genetic challenges associated with this rare disorder. METHODS: Case report. Literature review was performed by searching PubMed on May 2023, without language or date restriction, using the following terms: Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome type 7, and dystrobrevin-binding protein 1 gene. RESULTS: We report a case of a 69-year-old Portuguese female who presented for ophthalmic evaluation with long-standing severe visual impairment, pronounced photophobia, right-eye esotropia, and bilateral pendular nystagmus. Anterior segment examination revealed iris transillumination defects, while the ocular fundus showed hypopigmentation and the absence of the foveal reflex. The patient had a history of oculocutaneous albinism (OCA) and recurrent epistaxis. Her family history was positive for first-degree consanguineous parents and a deceased sister at young age who also exhibited OCA and recurrent epistaxis. Genetic testing identified a homozygous pathogenic nonsense variant in the DTNBP1, c.307C>T p.(Gln103*). The patient's clinical features and genetic testing support the diagnosis of HPS-7. The identified variant has been previously reported in the literature, in adult patients of Portuguese descent. CONCLUSION: This work highlights the genetic complexity of HPS-7 and emphasizes the importance of genetic testing in the diagnosis of this rare disorder. The identification of a rare pathogenic variant expands our understanding of HPS-7 genetics and suggests a possible founder effect in the Portuguese population.

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