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Ataxia-telangiectasia (AT) is a rare genetic disorder leading to neurological defects, telangiectasias, and immunodeficiency. We aimed to study the clinical and immunological features of Latin American patients with AT and analyze factors associated with mortality. Referral centers from 9 Latin American countries participated in this retrospective cohort study, and 218 patients were included. Median (IQR) ages at symptom onset and diagnosis were 1.0 (1.0-2.0)  and 5.0 (3.0-8.0) years, respectively. Most patients presented recurrent airway infections, which was significantly associated with IgA deficiency. IgA deficiency was observed in 60.8% of patients and IgG deficiency in 28.6%. T- and B-lymphopenias were also present in most cases. Mean survival was 24.2 years, and Kaplan-Meier 20-year-survival rate was 52.6%, with higher mortality associated with female gender and low IgG levels. These findings suggest that immunologic status should be investigated in all patients with AT.

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OBJECTIVE: the aim of this study was to analyze the influence of ozone therapy (OZN) on peri-implant bone repair in critical bones by installing osseointegrated implants in the tibia of ovariectomized rats. METHODOLOGY: ovariectomy was performed on 30 Wistar rats, aged six months (Rattus novergicus), and, after 90 days, osseointegrated implants were installed in each tibial metaphysis. The study groups were divided into the animals that received intraperitoneal ozone at a concentration of 700 mcg/kg - OZ Group (n=15) - and a control group that received an intraperitoneal saline solution and, for this reason, was named the SAL group (n=15). The applications for both groups occurred during the immediate post-operative period on the 2nd, 4th, 6th, 8th, 10th, and 12th day post-surgery. At various stages (14, 42, and 60 days), the animals were euthanized, and tests were performed on their tibiae. These tests include histomorphometric and immunohistochemical analyses, computerized microtomography, sampling in light-cured resin for calcified sections, and confocal microscopy. The obtained data were then analyzed using One-way ANOVA and the Shapiro-Wilk, Kruskal-Wallis, and student t-tests (P<0.05). RESULTS: our findings indicate that the OZ group (3.26±0.20 mm) showed better cellular organization and bone neoformation at 14 days (SAL group, 0.90±1.42 mm) (P=0.001). Immunohistochemistry revealed that osteocalcin labeling was moderate in the OZ group and mild in the SAL group at 14 and 42 days post-surgery. The data from the analysis of calcified tissues (microtomography, histometric, and bone dynamism analysis) at 60 days showed no statistically significant differences between the groups (P=0.32). CONCLUSION: it was concluded that ozone therapy anticipated the initial phases of the peri-implant bone repair process.

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The cheese after processing, generates whey, which is a residue that has potential benefit to human health. However, there are still few studies that seek to evaluate the composition and potential benefits of goat milk whey, even though it is a promising dairy source. Despite this, the large-scale generation of this waste can favor the environmental impact when improperly disposed of. Given this, the use of all content of dairy production can reverse this impact and increase the income of the dairy industry. Thus, this research prepared a powdered product based on goat's milk whey from the spray drying technique and evaluate its physicochemical composition by chemical analytical methods and protein profile through polyacrylamide gel electrophoresis. The elaborated product had a higher carbohydrate content than protein, and the identification of protein fractions showed that the most expressive bands represented beta-lactoglobulin and alpha-lactoalbumin. Therefore, the elaborated product has the potential to generate novel products for human consumption and with potential health benefits.

O queijo após processado gera o soro de leite, sendo este um resíduo que possui potencial benefício à saúde humana. No entanto, ainda são poucos os estudos que buscam avaliar a composição e os potenciais benefícios do soro de leite de cabra, mesmo esta sendo uma fonte láctea promissora. Apesar disso, a geração em larga escala deste resíduo pode favorecer o impacto ambiental quando descartado inadequadamente. Em vista disso, a utilização de todo conteúdo gerado na produção de lácteos pode reverter este impacto e aumentar o rendimento da indústria de laticínios. Diante disso, é importante buscar o desenvolvimento de novos produtos para favorecer a redução do impacto gerado. Assim, este trabalho teve como objetivo elaborar um produto em pó, à base de soro de leite de cabra a partir da secagem pela técnica de spray drying e avaliar sua composição físico-química por métodos químicos analíticos e perfil proteico através da eletroforese em gel de poliacrilamida. O produto elaborado apresentou maior teor de carboidratos do que proteína, e a identificação das frações proteicas mostrou que as bandas mais expressivas representavam beta-lactoglobulina e alfa-lactoalbumina. Portanto, o produto elaborado apresenta potencial para geração de novos produtos para consumo humano e com prováveis benefícios à saúde.

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Abstract Objective the aim of this study was to analyze the influence of ozone therapy (OZN) on peri-implant bone repair in critical bones by installing osseointegrated implants in the tibia of ovariectomized rats. Methodology ovariectomy was performed on 30 Wistar rats, aged six months (Rattus novergicus), and, after 90 days, osseointegrated implants were installed in each tibial metaphysis. The study groups were divided into the animals that received intraperitoneal ozone at a concentration of 700 mcg/kg — OZ Group (n=15) — and a control group that received an intraperitoneal saline solution and, for this reason, was named the SAL group (n=15). The applications for both groups occurred during the immediate post-operative period on the 2nd, 4th, 6th, 8th, 10th, and 12th day post-surgery. At various stages (14, 42, and 60 days), the animals were euthanized, and tests were performed on their tibiae. These tests include histomorphometric and immunohistochemical analyses, computerized microtomography, sampling in light-cured resin for calcified sections, and confocal microscopy. The obtained data were then analyzed using One-way ANOVA and the Shapiro-Wilk, Kruskal-Wallis, and student t-tests (P<0.05). Results our findings indicate that the OZ group (3.26±0.20 mm) showed better cellular organization and bone neoformation at 14 days (SAL group, 0.90±1.42 mm) (P=0.001). Immunohistochemistry revealed that osteocalcin labeling was moderate in the OZ group and mild in the SAL group at 14 and 42 days post-surgery. The data from the analysis of calcified tissues (microtomography, histometric, and bone dynamism analysis) at 60 days showed no statistically significant differences between the groups (P=0.32). Conclusion it was concluded that ozone therapy anticipated the initial phases of the peri-implant bone repair process.

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In this work, we report for the first time the occurrence of the parasitoid wasp Brachymeria amenocles (Walker, 1846) (Hymenoptera: Chalcididae) associated with the larvae of the flesh fly, Peckia (Peckia) chrysostoma (Wiedemann, 1830) (Diptera: Sarcophagidae), in Brazil. This parasitoid species was collected together with the species Brachymeria podagrica (Fabricius, 1787), in the municipality of Rio de Janeiro, geographically located in the Southeast region of Brazil, in larvae of the same host species reared in the same attraction substrate, behaving as solitary parasitoids. A trap containing putrefying sardine was exposed for 48 h, in the upper part of a house, located in Vila Isabel, an urban area. The larvae collected were reared in the laboratory without control of environmental conditions. A total of three adult parasitoid wasps of the species B. podagrica, and nine adult parasitoid wasps of the species B. amenocles emerged from 12 host pupae, resulting in a prevalence of parasitoidism of 4.8% and 14.5%, respectively. Developing parasitoids at the pupal phase were observed in another 34 host pupae dissected.

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BACKGROUND: Inherited genetic defects in immune system-related genes can result in Inborn Errors of Immunity (IEI), also known as Primary Immunodeficiencies (PID). Diagnosis of IEI disorders is challenging due to overlapping clinical manifestations. Accurate identification of disease-causing germline variants is crucial for appropriate treatment, prognosis, and genetic counseling. However, genetic sequencing is challenging in low-income countries like Brazil. This study aimed to perform genetic screening on patients treated within Brazil's public Unified Health System to identify candidate genetic variants associated with the patient's phenotype. METHODS: Thirteen singleton unrelated patients from three hospitals in Rio de Janeiro were enrolled in this study. Genomic DNA was extracted from the peripheral blood lymphocytes of each patient, and whole exome sequencing (WES) analyses were conducted using Illumina NextSeq. Germline genetic variants in IEI-related genes were prioritized using a computational framework considering their molecular consequence in coding regions; minor allele frequency ≤ 0.01; pathogenicity classification based on American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) guidelines gathered from the VarSome clinical database; and IEI-related phenotype using the Franklin tool. The genes classification into IEI categories follows internationally recognized guidelines informed by the International Union of Immunological Societies Expert Committee. Additional methods for confirmation of the variant included Sanger sequencing, phasing analysis, and splice site prediction. RESULTS: A total of 16 disease-causing variants in nine genes, encompassing six different IEI categories, were identified. X-Linked Agammaglobulinemia, caused by BTK variations, emerged as the most prevalent IEI disorder in the cohort. However, pathogenic and likely pathogenic variants were also reported in other known IEI-related genes, namely CD40LG, CARD11, WAS, CYBB, C6, and LRBA. Interestingly, two patients with suspected IEI exhibited pathogenic variants in non-IEI-related genes, ABCA12 and SLC25A13, potentially explaining their phenotypes. CONCLUSIONS: Genetic screening through WES enabled the detection of potentially harmful variants associated with IEI disorders. These findings contribute to a better understanding of patients' clinical manifestations by elucidating the genetic basis underlying their phenotypes.

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Endothelial dysfunction is commonly associated with a cardiovascular event, such as myocardial infarction. Myocardial infarction is marked by an ischemia/reperfusion (IR) phenomenon associated with endothelial dysfunction, contributing even more to future cardiovascular events. Although the supplementation with L-citrulline and nitrate from watermelon and beetroot have been used to improve vascular function, the effect of microencapsulated watermelon rind (WR) or its co-ingestion with beetroot (WR + B) on endothelial IR injury has not been addressed. Therefore, this study aimed to investigate the effect of a single dose of WR and WR + B on IR-induced macro-and microvascular dysfunction. In a randomized, crossover, placebo-controlled study, 12 volunteers underwent macro (flow-mediated dilation) and microvascular (muscle oxygen saturation) assessment and blood collection (to measure L-citrulline, L-arginine, nitrate and nitrite) before and after 20 min of blood occlusion in WR, WR + B and placebo conditions. Prolonged ischemia induced endothelial dysfunction in the macro but not in the microvasculature. The WR and WR + B supplementation significantly restored FMD after IR injury compared to the placebo (p < 0.05). However, there was no significant difference between WR and WR + B in the macrovascular function (p > 0.05). Plasma L-citrulline, L-arginine, nitrate, and nitrite significantly increased (p > 0.05) after WR and WR + B supplementation compared to the placebo. A single dose of WR and WR + B effectively minimizes IR-induced macrovascular endothelial dysfunction in healthy individuals. Beetroot co-ingestion with watermelon did not provide an additional effect of endothelial dysfunction induced by IR (NCT04781595, March 4, 2021).

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OBJECTIVES: Inborn error of immunity (IEI) comprises a broad group of inherited immunological disorders that usually display an overlap in many clinical manifestations challenging their diagnosis. The identification of disease-causing variants from whole-exome sequencing (WES) data comprises the gold-standard approach to ascertain IEI diagnosis. The efforts to increase the availability of clinically relevant genomic data for these disorders constitute an important improvement in the study of rare genetic disorders. This work aims to make available WES data of Brazilian patients' suspicion of IEI without a genetic diagnosis. We foresee a broad use of this dataset by the scientific community in order to provide a more accurate diagnosis of IEI disorders. DATA DESCRIPTION: Twenty singleton unrelated patients treated at four different hospitals in the state of Rio de Janeiro, Brazil were enrolled in our study. Half of the patients were male with mean ages of 9 ± 3, while females were 12 ± 10 years old. The WES was performed in the Illumina NextSeq platform with at least 90% of sequenced bases with a minimum of 30 reads depth. Each sample had an average of 20,274 variants, comprising 116 classified as rare pathogenic or likely pathogenic according to American College of Medical Genetics and Genomics and the Association (ACMG) guidelines. The genotype-phenotype association was impaired by the lack of detailed clinical and laboratory information, besides the unavailability of molecular and functional studies which, comprise the limitations of this study. Overall, the access to clinical exome sequencing data is limited, challenging exploratory analyses and the understanding of genetic mechanisms underlying disorders. Therefore, by making these data available, we aim to increase the number of WES data from Brazilian samples despite contributing to the study of monogenic IEI-disorders.

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Flies of the Sarcophagidae family are widely distributed in the world, occupying different habitats. Some species have a high degree of synanthropy and are therefore often found in households in the urban environment. In Brazil, there is still little information related to the natural enemies of these insects in the urban environment, where population control is strictly chemical. Therefore, larvae and pupae of Peckia (Euboettcheria) collusor (Curran and Walley) (Diptera: Sarcophagidae) species were exposed in an urbanized location, and the presence and prevalence of parasitoids in the natural control of these immature stages was evaluated. We report for the first time the species Aphaereta pallipes (Say) (Hymenoptera: Braconidae) and Dirhinus anthracia Walker (Hymenoptera: Chalcididae), associated with P. (E.) collusor, highlighting the importance of these parasitoids in natural control in the urban environment, in addition to expanding the list of hosts for both parasitoid species and the distribution of this parasitoid-host interaction for Brazil and the Neotropical region.

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