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Abstract Chromosomal Microarray Analysis (CMA) has increased the comprehension of the mechanisms of copy number variation (CNV) formation, classification of these rearrangements, type of recurrence, and its origin, and has also been a powerful approach to identifying CNVs in individuals with intellectual disability. The aim of this study was to establish the parental origin of de novo pathogenic CNV in a cohort of patients with intellectual disability from the public health system of Goiás-Brazil. CMA was done in 76 trios and we identified 15 de novo pathogenic CNVs in 12 patients with intellectual disability. In a total of 15 de novo pathogenic CNV, 60% were derived from the maternal germline and 40% from the paternal germline. CNV flanked by low copy repeats (LCR) were identified in 46.7% and most of them were of maternal origin. No significant association was observed between paternal age and the mutation rate of de novo CNVs. The presence of high-identity LCRs increases the occurrence of CNV formation mediated by non-allelic homologous recombination and the majority of paternal CNVs are non-recurrent. The mechanism of formation of these CNV may have been by microhomology-mediated break-induced replication or non-homologous end joining.

Considering recent earthquakes and the COVID-19 pandemic, disaster preparedness has come to the forefront of the public health agenda in Nepal. To strengthen the developing health system, many initiatives are being implemented at different levels of society to build resiliency, one of which is through training and education. The first International Conference on Disaster Preparedness and Management convened in Dhulikhel, Nepal on December 1–3, 2023. It brought together international teaching faculty to help deliver didactic and simulation-based sessions on various topics pertaining to disaster preparedness and management for over 140 Nepali healthcare professionals. This paper focuses on the tabletop exercise-based longitudinal workshop portion of the conference on disaster leadership and communication, delivered by United States-based faculty. It delves into the educational program and curriculum, delivery method, Nepali organizer and US facilitator reflections, and provides recommendations for such future conferences, and adaptation to other settings.

RESUMO Trilhas ecológicas são propostas para auxiliar na Educação Ambiental, sobretudo em Unidades de Conservação, promovendo uma educação dinâmica e interação entre os visitantes e a natureza. A Floresta Nacional de Açu é uma Unidade de Conservação na Caatinga, localizada no município de Açu, Rio Grande do Norte. Aqui objetivamos desenvolver uma trilha de Educação Ambiental para visitantes, coletores de sementes, parataxonomistas e pesquisadores. Os indivíduos arbóreos foram marcados com placas de alumínio numeradas, identificadas e georreferenciadas. Foram identificadas 13 espécies de Leguminosae e marcados 34 indivíduos, além de 58 indivíduos pertencentes a 13 famílias distintas. Foram definidas três trilhas: (1) Trilha das Leguminosas; (2) Trilha da Catingueira-cinzenta e (3) trilha de imersão na Caatinga. Essas trilhas foram testadas pelos autores e visitantes nos dias 23-24 julho de 2022. Concluímos que as trilhas se tornam uma importante ferramenta para proporcionar a proteção destes ambientes e uma maior percepção das espécies locais.

A 34-year- old man was referred to the outpatient clinic because of progressive abdominal pain, weight loss and pancytopenia. His body mass index (BMI) had fallen to 14.2 kg/m2. A CT angiography (CTA) showed narrowing of the truncus coeliacus with poststenotic dilation, and duodenal biopsy revealed ischaemia establishing a rare diagnosis: median arcuate ligament syndrome (MALS). This explained the postprandial pain and minimal intake. Further pancytopenia workup was performed. The bone marrow displayed gelatinous marrow transformation (GMT), a rare disorder of unknown pathogenesis, which has been associated with severe malnutrition. The final diagnosis was pancytopenia secondary to GMT due to severe malnutrition caused by MALS. The abnormalities in the bone marrow may be reversible by restoring nutritional status. This case emphasises the awareness of GMT in patients with weight loss, malnutrition and cytopenias. To our knowledge, this is the first report demonstrating an association between pancytopenia and MALS. [ABSTRACT FROM AUTHOR]

Abstract Traffic congestion is a major concern in urban centers, as it can affect society, the environment, and the economy. There are many studies on the use of computational intelligence (CI) to improve mobility in urban centers. Some of these researches focus on developing strategies for traffic light programming, since traffic coordination is complex due to its many parameters, variables, and dynamic behavior, and also an inefficient traffic control plan can lead to increased delays and contribute to traffic congestion. Although there are many works in the literature on strategies for traffic control, there are still some contributions and gaps to be filled, especially because some studies do not consider the automatic optimization of traffic signals in real time, that is, according to the demand of vehicles on the roads, considering multiple objectives and the use of a network of intersections in their experiments. In addition, some of the proposed models are not independent of simulation to evaluate the solutions of CI algorithms, resulting in a more complex deployment in real situations. In this context, this paper presents a new method to optimize traffic light plan in a network of intersections and in real time, called Active Control of Traffic Signals (ACTS) associated with the Non-Dominated Sorting Genetic Algorithm, considering multiple objectives in the optimization process (minimizing the average delay time and the number of vehicles stops per cycle). To test the applicability of the model, a real dataset of vehicle demand collected by the Company of Transport and Traffic of Belo Horizonte (BHTrans) is loaded into the AIMSUN simulator, then the method is applied and compared with the current traffic control plan used by BHTrans. The results show that the ACTS method reduces the average vehicle delay by almost half compared to the results obtained with the current solution used by BHTrans. In real life, this means less time spent in traffic, which promotes faster traffic flow, reducing traffic congestions.

Autophagy is a cellular degradation pathway mediated by highly conserved autophagy-related genes (Atgs). In our previous work, we showed that inhibiting autophagy under starvation conditions leads to significant physiological changes in the insect vector of Chagas disease Rhodnius prolixus; these changes include triacylglycerol (TAG) retention in the fat body, reduced survival and impaired locomotion and flight capabilities. Herein, because it is known that autophagy can be modulated in response to various stimuli, we further investigated the role of autophagy in the fed state, following blood feeding. Interestingly, the primary indicator for the presence of autophagosomes, the lipidated form of Atg8 (Atg8-II), displayed 20%–50% higher autophagic activation in the first 2 weeks after feeding compared to the third week when digestion was complete. Despite the elevated detection of autophagosomes, RNAi-mediated suppression of RpAtg6 and RpAtg8 did not cause substantial changes in TAG or protein levels in the fat body or the flight muscle during blood digestion. We also found that knockdown of RpAtg6 and RpAtg8 led to modest modulations in the gene expression of essential enzymes involved in lipid metabolism and did not significantly stimulate the expression of the chaperones BiP and PDI, which are the main effectors of the unfolded protein response. These findings indicate that impaired autophagy leads to slight disturbances in lipid metabolism and general cell proteostasis. However, the ability of insects to fly during forced flight until exhaustion was reduced by 60% after knockdown of RpAtg6 and RpAtg8. This change was accompanied by TAG and protein increases as well as decreased ATP levels in the fat body and flight muscle, indicating that autophagy during digestion, i.e., under fed conditions, is necessary to sustain high-performance activity.

A questão da segurança no ambiente de trabalho é uma preocupação constante em todo o mundo. No entanto, a incidência de acidentes de trabalho não é uniforme entre os diferentes grupos sociais. A pesquisa tem como objetivo avaliar a completude da variável raça/cor nos sistemas de informação relacionados a acidentes de trabalho na Bahia. Trata-se de um estudo descritivo e de abordagem quantitativa, com dados secundários do Sistema de Informação sobre Mortalidade (SIM) e do Sistema de Informação sobre Agravos de Notificação (SINAN), avaliando-se a completude no registro da variável raça/cor nos óbitos por acidentes de trabalho. A completude da variável foi avaliada utilizando-se os programas de tabulação de dados de saúde (TABWIN e TABNET) do DATASUS, Secretaria de Gestão Estratégica e Participativa, Ministério da Saúde. Os resultados apresentam: foram registrados no SIM frequência de não completude menor que 5% pela variável raça/cor no período estudado, classificado como excelente. Para os demais acidentes de trabalho registrados, todos no SINAN, nenhum atingiu parâmetros excelentes. Conclui que o campo raça/cor nos sistemas de informação é importante, pois fornece subsídios para as ações de planejamento ao combate às desigualdades em saúde. Este estudo mostrou que ainda há muito a melhorar a fim de alcançar completude desses dados nos sistemas de informação de agravos.

Abstract Background We aimed to evaluate the association of sedentary behavior (SB) and moderate to vigorous leisure-time physical activity (MVPA) with sleep quality during the COVID-19 pandemic. Methods Cross-sectional, population-based study in adults, conducted from October to December 2020 in the Iron Quadrangle region, Brazil. The outcome was sleep quality, evaluated with the Pittsburgh Sleep Quality Index. SB was assessed by self-report of total sitting time, before and during the pandemic. Individuals with ≥ 9 h of total sitting time were classified as SB. In addition, the ratio of time spent in MVPA to time in SB was analyzed. A contrasted directed acyclic graph (DAG) model was constructed to adjust logistic regression models. Results A total of 1629 individuals were evaluated, the prevalence of SB before the pandemic was 11.3% (95%CI: 8.6–14.8), and during the pandemic 15.2% (95%CI: 12.1–18.9). In multivariate analysis, the chance of poor sleep quality was 77% higher in subjects with SB ≥ 9 h per day (OR: 1.77; 95% CI: 1.02–2.97). Furthermore, a one-hour increase in SB during the pandemic, increased the chance of poor sleep quality by 8% (OR: 1.08; 95%CI 1.01–1.15). In the analysis of the ratio of MVPA per SB in individuals with SB ≥ 9 h, practicing 1 min of MVPA per hour of SB reduces the chance of poor sleep quality by 19% (OR: 0.84; 95%CI: 0.73–0.98). Conclusion SB during the pandemic was a factor associated with poor sleep quality, and the practice of MVPA can reduce the effects of SB. Graphical Abstract

Background and purpose: The employment of yeasts for biomedical purposes has become increasingly frequent for the delivery of prophylactic and therapeutic products. Its structural components, such as β-glucans, mannan, and chitin, can be explored as immunostimulators that show safety and low toxicity. Besides, this system minimizes antigen degradation after administration, facilitating the delivery to the target cells. Review approach: This review sought to present molecules derived from yeast, called yeast shells (YS), and their applications as carrier vehicles for drugs, proteins, and nucleic acids for immunotherapy purposes. Furthermore, due to the diversity of information regarding the production and immunostimulation of these compounds, a survey of the protocols and immune response profiles generated was presented. Key results: The use of YS has allowed the development of strategies that combine efficiency and effectiveness in antigen delivery. The capsular structure can be recognized and phagocytized by dendritic cells and macrophages. In addition, the combination with different molecules, such as nanoparticles or even additional adjuvants, improves the cargo loading, enhancing the system. Activation by specific immune pathways can also be achieved by different administration routes. Conclusion: Yeast derivatives combined in different ways can increase immunostimulation, enhancing the delivery of medicines and vaccine antigens. These aspects, combined with the simplicity of the production steps, make these strategies more accessible to be applied in the prevention and treatment of various diseases.

This study aimed to genotype isolates of Toxoplasma gondii obtained from samples of brain, diaphragm and heart of goats and sheep intended for human consumption in the State of Paraíba, Brazil. Tissue samples from 14 animals, goats (n = 5) and lambs (n = 9), were sourced from public slaughterhouses in seven cities and bio-assayed in mice. The brains of the mice were utilized for DNA extraction. Genotyping was carried out by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) using 10 markers (SAG1, SAG2, SAG3, BTUB, c22-8, PK1, GRA6, L358, c-29-2 and Apico). A total of 10 isolates were fully genotyped (i.e. at all loci), three from goats and seven from sheep, revealing five distinct genotypes: #13 (n = 4); #48 (n = 3); #57 (n = 1); #273 (n = 1); and one new genotype that had not been previously described. Genotype #13 is frequently found in the Northeast of Brazil and represents a clonal lineage circulating in this region and was the most prevalent genotype identified (n = 4). Moreover, in the present study genotypes #13, #48, #57, and #273 were documented for the first time in sheep from Brazil, and the novel genotype was isolated from a goat. Our findings align with previous studies on T. gondii from Brazil, where new genotypes are continuously being identified, highlighting a high level of genetic diversity of T. gondii isolates in the country.