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This study is the first to explore the psychosocial experience of young Portuguese adults at genetic risk for hereditary amyloid transthyretin amyloidosis with polyneuropathy (hATTR-PN). The work focuses on the developmental peculiarities of their experience with the disease. Sixteen semi-structured interviews were conducted with young adults coming for pre-symptomatic testing (PST) at a single genetics outpatient center in Portugal. The data were analyzed qualitatively. The main findings suggest that four themes mark the psychosocial experience of the young adults interviewed. The first refers to the development of psychological representations, namely beliefs, mental representations, and social perceptions about hATTR-PN. The second regards the experienced and anticipated psychosocial impacts, namely, suffering, anxiety, and relief related to the disease. The third is related to using strategies such as performing PST, strategies focused on emotional regulation and the meaning of hATTR-PN, and social strategies to deal with these impacts over time. Finally, the fourth aspect concerns the perceived and expected support for the participants' needs provided by social contexts, that is, family and genetic counseling. In a period of life also marked by qualitatively different characteristics and developmental tasks from other life cycle stages (e.g., identity explorations, instability, and independent decision-making), experience with the disease can add psychosocial challenges to young adults at risk for hATTR-PN. Genetic counseling practices and health policies can be optimized to respond to the psychosocial needs of young adults. Future research should deepen the understanding of the psychosocial experience of individuals and families with late-onset hATTR-PN to improve the clinical response in this population.
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Two new porous three-dimensional cadmium(II) metal-organic frameworks (MOFs) containing thiophene-appended carboxylate acid ligands, formulated as [Cd(L1)(4,4'-Bipy)]n.2n(DMF) (1) and [Cd(L2)(4,4'-Bipy)]n.2n(DMF) (2) [where L1 = 5-{(thiophen-2-ylmethyl)amino}isophthalate, L2 = 5-{(thiophen-3-ylmethyl)amino}isophthalate, 4,4'-Bipy = 4,4'-bipyridine, and DMF = N,N'-dimethylformamide] have been synthesized and structurally characterized. The gas adsorption analysis of the activated MOFs shows that they specifically capture CO2 (uptake amount 4.36 mmol/g under 1 bar at 195 K) over N2 and CH4. Moreover, both MOFs show a gate-opening-closing phenomenon, which features the S-shaped isotherms with impressive hysteretic desorption during the CO2 adsorption-desorption process at 195 K. Ideal adsorbed solution theory (IAST) calculations of these MOFs displayed that the obtained selectivity values for CO2/CH4 (50:50) and CO2/N2 (15:85) are approximately 8.6-23 and 93-565, respectively. Configurational bias Monte Carlo simulation was performed to understand the mechanism behind the better CO2 adsorption by these MOFs. Catalytic activity of the MOFs for the CO2 fixation reactions with different epoxides to form cyclic carbonates were tested. These MOFs demonstrated a significantly high conversion (94-99%) of epichlorohydrin to the corresponding cyclic carbonate within 8 h of reaction time at 1 bar of CO2 pressure, at 70 °C, and they can be reused up to five cycles without losing considerably their activity.
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Diabetes mellitus is a prevalent chronic autoimmune disease with a high impact on global health, affecting millions of adults and resulting in significant morbidity and mortality. Achieving optimal blood glucose levels is crucial for diabetes management to prevent acute and long-term complications. Carbohydrate counting (CC) is widely used by patients with type 1 diabetes to adjust prandial insulin bolus doses based on estimated carbohydrate content, contributing to better glycemic control and improved quality of life. However, accurately estimating the carbohydrate content of meals remains challenging for patients, leading to errors in bolus insulin dosing. This review explores the current limitations and challenges in CC accuracy and emphasizes the importance of personalized educational programs to enhance patients' abilities in carbohydrate estimation. Existing tools for assessing patient learning outcomes in CC are discussed, highlighting the need for individualized approaches tailored to each patient's needs. A comprehensive review of the relevant literature was conducted to identify educational programs and assessment tools dedicated to training diabetes patients on carbohydrate counting. The research aims to provide insights into the benefits and limitations of existing tools and identifies future research directions to advance personalized CC training approaches. By adopting a personalized approach to CC education and assessment, healthcare professionals can empower patients to achieve better glycemic control and improve diabetes management. Moreover, this review identifies potential avenues for future research, paving the way for advancements in personalized CC training and assessment approaches and further enhancing diabetes management strategies.
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Glicemia , Diabetes Mellitus Tipo 1 , Carboidratos da Dieta , Humanos , Carboidratos da Dieta/administração & dosagem , Diabetes Mellitus Tipo 1/sangue , Diabetes Mellitus Tipo 1/tratamento farmacológico , Educação de Pacientes como Assunto , Controle Glicêmico/métodos , Insulina , Hipoglicemiantes/administração & dosagem , Qualidade de Vida , RefeiçõesRESUMO
Electrochemotherapy (ECT) is a treatment modality that combines the electroporation of cell membranes with chemotherapy to facilitate the transport of non-permeant molecules into cells. Several canine and feline studies have shown promising results, suggesting that ECT can be a valid adjuvant or alternative treatment option for some tumours. The objective of this paper is to provide a bibliographic review of the principles and applications of ECT in veterinary medicine and to compare to its use in human medicine.
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Doenças do Gato , Doenças do Cão , Eletroquimioterapia , Neoplasias , Gatos , Cães , Eletroquimioterapia/veterinária , Eletroquimioterapia/métodos , Animais , Doenças do Cão/tratamento farmacológico , Doenças do Gato/tratamento farmacológico , Neoplasias/veterinária , Neoplasias/tratamento farmacológico , Antineoplásicos/uso terapêuticoRESUMO
Xylanases are key biocatalysts in the degradation of the ß-1,4-glycosidic linkages in the xylan backbone of hemicellulose. These enzymes are potentially applied in a wide range of bioprocessing industries under harsh conditions. Metagenomics has emerged as powerful tools for the bioprospection and discovery of interesting bioactive molecules from extreme ecosystems with unique features, such as high temperatures. In this study, an innovative combination of function-driven screening of a compost metagenomic library and automatic extraction of halo areas with in-house MATLAB functions resulted in the identification of a promising clone with xylanase activity (LP4). The LP4 clone proved to be an effective xylanase producer under submerged fermentation conditions. Sequence and phylogenetic analyses revealed that the xylanase, Xyl4, corresponded to an endo-1,4-ß-xylanase belonging to glycosyl hydrolase family 10 (GH10). When xyl4 was expressed in Escherichia coli BL21(DE3), the enzyme activity increased about 2-fold compared to the LP4 clone. To get insight on the interaction of the enzyme with the substrate and establish possible strategies to improve its activity, the structure of Xyl4 was predicted, refined, and docked with xylohexaose. Our data unveiled, for the first time, the relevance of the amino acids Glu133 and Glu238 for catalysis, and a close inspection of the catalytic site suggested that the replacement of Phe316 by a bulkier Trp may improve Xyl4 activity. Our current findings contribute to enhancing the catalytic performance of Xyl4 towards industrial applications. KEY POINTS: ⢠A GH10 endo-1,4-ß-xylanase (Xyl4) was isolated from a compost metagenomic library ⢠MATLAB's in-house functions were developed to identify the xylanase-producing clones ⢠Computational analysis showed that Glu133 and Glu238 are crucial residues for catalysis.
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Compostagem , Endo-1,4-beta-Xilanases , Escherichia coli , Metagenômica , Filogenia , Endo-1,4-beta-Xilanases/genética , Endo-1,4-beta-Xilanases/metabolismo , Endo-1,4-beta-Xilanases/química , Endo-1,4-beta-Xilanases/isolamento & purificação , Escherichia coli/genética , Escherichia coli/metabolismo , Metagenoma , Biblioteca Gênica , Microbiologia do Solo , Xilanos/metabolismo , Clonagem Molecular , Fermentação , Expressão Gênica , Simulação de Acoplamento MolecularRESUMO
In the present work, three novel halogen-appended cadmium(II) metal-organic frameworks [Cd2(L1)2(4,4'-Bipy)2]n·4n(DMF) (1), [Cd2(L2)2(4,4'-Bipy)2]n·3n(DMF) (2), and [Cd(L3)(4,4'-Bipy)]n·2n(DMF) (3) [where L1 = 5-{(4-bromobenzyl)amino}isophthalate; L2 = 5-{(4-chlorobenzyl)amino}isophthalate; L3 = 5-{(4-fluorobenzyl)amino}isophthalate; 4,4'-Bipy = 4,4'-bipyridine; and DMF = N,N'-dimethylformamide] have been synthesized under solvothermal conditions and characterized by various analytical techniques. The single-crystal X-ray diffraction analysis demonstrated that all the MOFs feature a similar type of three-dimensional structure having a binuclear [Cd2(COO)4(N)4] secondary building block unit. Moreover, MOFs 1 and 2 contain one-dimensional channels along the b-axis, whereas MOF 3 possesses a 1D channel along the a-axis. In these MOFs, the pores are decorated with multifunctional groups, i.e., halogen and amine. The gas adsorption analysis of these MOFs demonstrate that they display high uptake of CO2 (up to 5.34 mmol/g) over N2 and CH4. The isosteric heat of adsorption (Qst) value for CO2 at zero loadings is in the range of 18-26 kJ mol-1. In order to understand the mechanism behind the better adsorption of CO2 by our MOFs, we have also performed configurational bias Monte Carlo simulation studies, which confirm that the interaction between our MOFs and CO2 is stronger compared to those with N2 and CH4. Various noncovalent interactions, e.g., halogen (X)···O, Cd···O, and O···O, between CO2 and the halogen atom, the Cd(II) metal center, and the carboxylate group from the MOFs are observed, respectively, which may be a reason for the higher carbon dioxide adsorption. Ideal adsorbed solution theory (IAST) calculations of MOF 1 demonstrate that the obtained selectivity values for CO2/CH4 (50:50) and CO2/N2 (15:85) are ca. 28 and 193 at 273 K, respectively. However, upon increasing the temperature to 298 K, the selectivity value (S = 34) decreases significantly for the CO2/N2 mixture. We have also calculated the breakthrough analysis curves for all the MOFs using mixtures of CO2/CH4 (50:50) and CO2/N2 (50:50 and 15:85) at different entering gas velocities and observed larger retention times for CO2 in comparison with other gases, which also signifies the stronger interaction between our MOFs and CO2. Moreover, due to the presence of Lewis acidic metal centers, these MOFs act as heterogeneous catalysts for the CO2 fixation reactions with different epoxides in the presence of tetrabutyl ammonium bromide (TBAB), for conversion into industrially valuable cyclic carbonates. These MOFs exhibit a high conversion (96-99%) of epichlorohydrin (ECH) to the corresponding cyclic carbonate 4-(chloromethyl)-1,3-dioxolan-2-one after 12 h of reaction time at 1 bar of CO2 pressure, at 65 °C. The MOFs can be reused up to four cycles without compromising their structural integrity as well as without losing their activity significantly.
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Phosphorus (P) removal from urban wastewater is increasingly relevant in the wastewater treatment sector. The present work aims to contribute to the study of the adsorption process as a P removal technology. Biogenic calcium carbonate from industrial eggshell waste prepared by milling and calcination was used as an adsorbent. Batch adsorption experiments were conducted using real wastewater with 40 mg P/L (orthophosphate), original pH 7.33, under stirring conditions (100 rpm). The adsorbent was characterized using SEM-EDS, XRD, and FTIR-ATR before and after adsorption. From an initial screening of calcination times (15, 30, 60, and 120 min) and considering a balance between P removal and energy saving, the adsorbent selected was eggshell calcined at 700 °C for 60 min. The Langmuir isotherms describe the experimental data with a maximum adsorption capacity of 4.57 mg P/g at 25 °C. The adsorption process reached equilibrium within 120 min for different dosages (5, 10, and 20 g/L at 25 °C). Batch experiments showed that SO42-, at a concentration of 2689 mg/L reduced the P adsorption selectivity for dosages ≤10 g/L at 25 °C. Characterization of the loaded adsorbent shows that P adsorption from real wastewater is mostly electrostatic attraction, with the contribution of ligand exchange and microprecipitation. The adsorption capacity and behavior of the selected adsorbent seem promising for P removal from urban wastewater compared with other low-cost adsorbents.
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Águas Residuárias , Poluentes Químicos da Água , Fósforo/química , Adsorção , Carbonato de Cálcio/química , Cinética , Poluentes Químicos da Água/química , Concentração de Íons de Hidrogênio , Resíduos IndustriaisRESUMO
Photosensitization, a powerful oxidation reaction, offers significant potential for wastewater treatment in the context of industrial process water reuse. This environmentally friendly process can be crucial in reducing water consumption and industrial pollution. The ultimate goal is to complete process water reuse, creating a closed-loop system that preserves the inherent value of water resources. The photosensitized oxidation reaction hinges on three essential components: the photosensitizer, visible light, and oxygen. In this study, we assess the performance of three distinct materials-silica, chitosan, and spongin-as carrier materials for incorporating the phthalocyanine photosensitizer (ZnPcS4) in the heterogenous photosensitization process. Among the three materials under study, chitosan emerged as the standout performer in reactor hydrodynamic performance. In the photooxidation process, the photosensitizer ZnPcS4 exhibited notable efficacy, resulting in a significant reduction of approximately 20 to 30% in the remaining COD concentration of the cellar wastewater. Chitosan demonstrated exceptional hydrodynamic characteristics and displayed a favorable response to pH adjustments within the range of 8 to 10, outperforming the other two carrier materials. To further enhance the efficiency of continuous operation, exploring methods for mitigating photosensitizer bleaching within the reaction medium and investigating the impact of different pH values on the process optimization would be prudent.
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PURPOSE: Gastric cancer is the fifth most common malignant tumor worldwide. Many attempts have been made over the years to investigate the relationship between tumor markers and the risk of recurrence. This study aims to explore the predictive value of tumor markers measured in peritoneal washing during staging laparoscopy, regarding peritoneal carcinomatosis and mortality within 1 year. METHODS: Patients with locally advanced gastric cancer, staged as at least usT2anyNM0 were submitted to staging laparoscopy in a Portuguese single center. CA 19.9, CEA, CA 125, and CA 72.4 were measured in the peritoneal washing after being harvested during staging laparoscopy. RESULTS: Thirty-eight patients were enrolled. After 1 year, 20 patients did not recur (52.5%), 11 (28.9%) developed carcinomatosis, and 7 (18.4%) had distant metastasis. Mortality reached 23.7% (n = 9). A statistically significant prediction of carcinomatosis was obtained for CA 125 (cutoff: 107.6 U/mL (p = 0.019)) and CEA (cutoff: 2.0 ng/mL (p = 0.020)) with 87.5% and 75% sensitivity, respectively. Prediction of mortality was significant for CA 125 (cutoff: 103.8 U/mL (p = 0.044)) and CA 125 + CEA (p = 0.030). CEA and CA 125 had NPVs of 87.9% and 93.1% regarding PC, respectively. NPVs of 88.9% and 89.2% were met concerning mortality, for the same tumor markers. CONCLUSION: Performing the peritoneal liquid harvest during staging laparoscopy makes this analysis cost effective, reproducible, and does not add further morbidity. CA 125 and CEA, individually and in association, are good predictors of progression of disease and mortality within a year of staging laparoscopy in GC patients.
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Visceral Leishmaniasis (VL) is a potentially fatal disease and may be associated with primary or acquired immunodeficiencies. There are few reports, in the literature, of inborn errors of immunity. Here, we report two cases of VL as a marker of inborn errors of immunity, namely, GATA2 and RAB27A deficiency. Our data suggest that VL patients should be screened for primary immunodeficiency, particularly in cases of VL relapse.
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Síndrome da Imunodeficiência Adquirida , Leishmaniose Visceral , Humanos , Leishmaniose Visceral/diagnóstico , Leishmaniose Visceral/complicações , Síndrome da Imunodeficiência Adquirida/complicações , RecidivaRESUMO
Glioblastoma (GB) is the most aggressive primary malignant brain tumor and is associated with short survival. O-GlcNAcylation is an intracellular glycosylation that regulates protein function, enzymatic activity, protein stability, and subcellular localization. Aberrant O-GlcNAcylation is related to the tumorigenesis of different tumors, and mounting evidence supports O-GlcNAc transferase (OGT) as a potential therapeutic target. Here, we used two human GB cell lines alongside primary human astrocytes as a non-tumoral control to investigate the role of O-GlcNAcylation in cell proliferation, cell cycle, autophagy, and cell death. We observed that hyper O-GlcNAcylation promoted increased cellular proliferation, independent of alterations in the cell cycle, through the activation of autophagy. On the other hand, hypo O-GlcNAcylation inhibited autophagy, promoted cell death by apoptosis, and reduced cell proliferation. In addition, the decrease in O-GlcNAcylation sensitized GB cells to the chemotherapeutic temozolomide (TMZ) without affecting human astrocytes. Combined, these results indicated a role for O-GlcNAcylation in governing cell proliferation, autophagy, cell death, and TMZ response, thereby indicating possible therapeutic implications for treating GB. These findings pave the way for further research and the development of novel treatment approaches which may contribute to improved outcomes and increased survival rates for patients facing this challenging disease.
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O uso da Tecnologia da Informação está presente nos mais diversos domínios, inclusive no da saúde, ao utilizar várias metodologias e ferramentas computacionais. O objetivo deste artigo é apresentar o modelo conceitual baseado em ontologia sobre o domínio HIV/aids denominado OntoHI. No processo para desenvol-ver a OntoHI adotam-se a metodologia SABiO e a ontologia de fundamentação UFO, além do conhecimento de especialistas da área da saúde, o que garante a representação da realidade. Artefatos da ontologia aqui apresentados: representação gráfica, glossário de termos, questões de competência. O controle de qualidade se dá através dos processos de validação e verificação das questões de competências. A OntoHI possibilita a integração com representações de outros domínios. Pode ser utilizado como artefato para a construção de ferramentas computacionais, principalmente sistemas de informações e aplicativos móveis para acompanhar o tratamento de pacientes, além de poder ser expandida para se adaptar a novas situações
The use of Information Technology is present in the most diverse domains, including health care, using various methodologies and computational tools. The goal of this work is to present an ontology-driven con-ceptual model on the HIV/AIDS domain called OntoHI. In the process of developing OntoHI, the SABiO methodology and the UFO foundational ontology are adopted, in addition to the specialist's knowledge in the field of health care, which guarantees a consistent representation of reality. Ontology artifacts that are presented here: graphical representation, glossary of terms, validation of competence questions. Quality control happens in the process of validation and verification of competency questions. OntoHI enables in-tegration with representations from other domains. It can be used as an artifact for building computational tools, mainly information systems and mobile applications to monitor patient treatment, in addition to being able to be expanded to adapt to new situations
El uso de las Tecnologías de la Información ocurre en los más diversos dominios, incluido el de la salud, uti-lizando diversas metodologías y herramientas computacionales. El objetivo de este trabajo es presentar el modelo conceptual basado en ontologías sobre el dominio del VIH/sida denominado OntoHI. En el proceso de desarrollo de OntoHI se adoptan la metodología SABiO y la ontología de fundamentos OVNI, además del conocimiento de especialistas en el campo de la salud, lo que garantiza la representación de la realidad. Artefactos ontológicos presentados: representación gráfica, glosario, temas competenciales. El control de calidad se lleva a cabo a través del proceso de validación y verificación de problemas de competencia. Onto-HI permite la integración con representaciones de otros dominios. Puede usarse como artefacto para cons-truir herramientas computacionales, principalmente sistemas de información y aplicaciones móviles para monitorear el tratamiento del paciente, además de poder expandirse para adaptarse a nuevas situaciones
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Humanos , Simulação por Computador , HIV , Tecnologia da Informação , Terapêutica , Ontologias Biológicas , Aplicativos MóveisRESUMO
BACKGROUND: Weight regain in the postoperative period after bariatric surgery is directly related to the relapse of preoperative comorbidities and a negative impact on the patients' biochemical profile. AIMS: To assess the metabolic impact of weight regain on preoperative comorbidities and on patients' biochemical profiles, in order to show the impact of the complications on the metabolic outcomes of bariatric surgery. METHODS: A retrospective study was carried out with 75 women in the late postoperative period of bariatric surgery who presented pathological weight regain (≥20% of the maximum weight loss). Data of interest consisted of glycemic, lipid, and inflammatory profile measurements at three different moments of evaluation: preoperative period, at the weight nadir (minimum weight), and after weight regain. A multivariate analysis was performed. RESULTS: The mean age was 46.39±12.09 years. Preoperative body mass index was 40.10±4.11 kg/m2. There was an overall increase of 3.36 points in the mean body mass index between the nadir and after regain: from 26.30±3.9 kg/m2 to 29.66±4.66 kg/m2. The mean time to reach the nadir was 18±7.6 months, with an average percentage of excess weight loss of 91.08±11.8%. The median time for pathological weight regain was 48 months, and the mean regain amongst the sample was 8.85±5.65 kg. There was a significant correlation between pathological weight regain and levels of insulin (r=0.351; p<0.011), C-peptide (r=0.303; p<0.011), C-reactive protein (r=0.402; p<0.001), and vitamin D (r=-0.435; p<0.001), the last two being the most influenced by the percentage of weight regained. CONCLUSIONS: The pathological weight regain in the postoperative period of bariatric surgery results in losses in the patients' metabolic and inflammatory profiles. However, the biochemical benefits are sustained up to the preoperative levels of the parameters analyzed.
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Cirurgia Bariátrica , Obesidade Mórbida , Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Aumento de Peso , Estudos Retrospectivos , Redução de Peso , Análise Multivariada , Período Pós-Operatório , Metaboloma , Obesidade Mórbida/cirurgiaRESUMO
INTRODUCTION: Worldwide, tetanus-diphtheria-acellular pertussis (Tdap) vaccination coverage of healthcare professionals (HCPs) is below 40%, but this data is not available for Brazil. We hypothesize that a high number of HCPs are not immune to pertussis in Brazil. Main objective was to determine the seroprevalence of anti-pertussis toxin (anti-PT IgG) among HCPs. Secondary objectives were to evaluate Tdap vaccination coverage, to assess predictive factors associated with anti-PT IgG, and to estimate the decay of anti-PT IgG and time to Tdap vaccination. METHODS: Observational cross-sectional serological study in 352 HCPs who worked at São Paulo Hospital - Federal University of São Paulo (UNIFESP) in 2020, approved by UNIFESP Ethics Committee. Data collected included sociodemographics, knowledge about Tdap, and vaccination status. Anti-PT IgG were quantified by ELISA: <10 IU/mL seronegative and ≥ 10-1000 IU/mL seropositive. Titers ≥ 10-50 IU/mL were classified low positivity, indicating no recent B. pertussis infection or Tdap vaccination; >50 IU/mL high positivity, indicating recent B. pertussis infection or Tdap vaccination, and > 100 IU/mL as acute B. pertussis infection or Tdap vaccination in the previous year. Comparisons were done by Chi-square test, multivariable logistic regression, and Pearsons correlation, at 5% p-level. RESULTS: 331/352 HCPs were not aware the Brazilian National Immunization Program recommends Tdap for all HCPs and pregnant women. 68/339 HCPs received Tdap (mean 3.1 ± 2.0 years). 55/352 were seronegative for pertussis, all unvaccinated. 56/271 with no history of Tdap vaccination had high positivity. The probability of anti-PT IgG > 50 IU/mL was 11.5 times higher in Tdap vaccinated HCPs than in non-vaccinated (p < 0.001). There was a weak but significant correlation between anti-PT IgG and interval of Tdap vaccination (r = 0.404; p = 0.001). Anti-PT IgG dropped 5 IU/mL/year (p = 0.001). CONCLUSION: Better education of HCPs on needs and benefits of Tdap vaccination is critical. Goals must be to improve HCPs vaccination coverage.
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Vacinas contra Difteria, Tétano e Coqueluche Acelular , Difteria , Tétano , Coqueluche , Humanos , Feminino , Gravidez , Cobertura Vacinal , Brasil/epidemiologia , Estudos Transversais , Estudos Soroepidemiológicos , Coqueluche/prevenção & controle , Vacinação , Anticorpos Antibacterianos , Difteria/prevenção & controle , Imunoglobulina G , Tétano/prevenção & controle , Atenção à SaúdeRESUMO
The renewable, abundant , and low-cost nature of lignocellulosic biomass can play an important role in the sustainable production of bioenergy and several added-value bioproducts, thus providing alternative solutions to counteract the global energetic and industrial demands. The efficient conversion of lignocellulosic biomass greatly relies on the catalytic activity of carbohydrate-active enzymes (CAZymes). Finding novel and robust biocatalysts, capable of being active under harsh industrial conditions, is thus imperative to achieve an economically feasible process. In this study, thermophilic compost samples from three Portuguese companies were collected, and their metagenomic DNA was extracted and sequenced through shotgun sequencing. A novel multi-step bioinformatic pipeline was developed to find CAZymes and characterize the taxonomic and functional profiles of the microbial communities, using both reads and metagenome-assembled genomes (MAGs) as input. The samples' microbiome was dominated by bacteria, where the classes Gammaproteobacteria, Alphaproteobacteria, and Balneolia stood out for their higher abundance, indicating that the degradation of compost biomass is mainly driven by bacterial enzymatic activity. Furthermore, the functional studies revealed that our samples are a rich reservoir of glycoside hydrolases (GH), particularly of GH5 and GH9 cellulases, and GH3 oligosaccharide-degrading enzymes. We further constructed metagenomic fosmid libraries with the compost DNA and demonstrated that a great number of clones exhibited ß-glucosidase activity. The comparison of our samples with others from the literature showed that, independently of the composition and process conditions, composting is an excellent source of lignocellulose-degrading enzymes. To the best of our knowledge, this is the first comparative study on the CAZyme abundance and taxonomic/functional profiles of Portuguese compost samples. KEY POINTS: ⢠Sequence- and function-based metagenomics were used to find CAZymes in compost samples. ⢠Thermophilic composts proved to be rich in bacterial GH3, GH5, and GH9 enzymes. ⢠Compost-derived fosmid libraries are enriched in clones with ß-glucosidase activity.
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Celulases , Compostagem , Microbiota , Metagenômica , Lignina/metabolismo , Carboidratos , Bactérias/metabolismo , Celulases/metabolismoRESUMO
Thyroid diseases affect a considerable portion of the population, with hypothyroidism being one of the most commonly reported thyroid diseases. Levothyroxine (T4) is clinically used to treat hypothyroidism and suppress thyroid stimulating hormone secretion in other thyroid diseases. In this work, an attempt to improve T4 solubility is made through the synthesis of ionic liquids (ILs) based on this drug. In this context, [Na][T4] was combined with choline [Ch]+ and 1-(2-hydroxyethyl)-3-methylimidazolium [C2OHMiM] + cations in order to prepare the desired T4-ILs. All compounds were characterized by NMR, ATR-FTIR, elemental analysis, and DSC, aiming to check their chemical structure, purities, and thermal properties. The serum, water, and PBS solubilities of the T4-ILs were compared to [Na][T4], as well as the permeability assays. It is important to note an improved adsorption capacity, in which no significant cytotoxicity was observed against L929 cells. [C2OHMiM][T4] seems to be a good alternative to the commercial levothyroxine sodium salt with promising bioavailability.
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Líquidos Iônicos , Tiroxina , Tiroxina/síntese química , Tiroxina/farmacocinética , Tiroxina/toxicidade , Disponibilidade Biológica , Solubilidade , Líquidos Iônicos/síntese química , Líquidos Iônicos/farmacocinética , Líquidos Iônicos/toxicidade , Células L , Animais , Camundongos , PermeabilidadeRESUMO
BACKGROUND: Genetic testing is recommended for accurate diagnosis of Bartter syndrome (BS) and serves as a basis for implementing specific target therapies. However, populations other than Europeans and North Americans are underrepresented in most databases and there are uncertainties in the genotype-phenotype correlation. We studied Brazilian BS patients, an admixed population with diverse ancestry. METHODS: We evaluated the clinical and mutational profile of this cohort and performed a systematic review of BS mutations from worldwide cohorts. RESULTS: Twenty-two patients were included; Gitelman syndrome was diagnosed in 2 siblings with antenatal BS and congenital chloride diarrhea in 1 girl. BS was confirmed in 19 patients: BS type 1 in 1 boy (antenatal BS); BS type 4a in 1 girl and BS type 4b in 1 girl, both of them with antenatal BS and neurosensorial deafness; BS type 3 (CLCNKB mutations): 16 cases. The deletion of the entire CLCNKB (1-20 del) was the most frequent variant. Patients carrying the 1-20 del presented earlier manifestations than those with other CLCNKB-mutations and the presence of homozygous 1-20 del was correlated with progressive chronic kidney disease. The prevalence of the 1-20 del in this BS Brazilian cohort was similar to that of Chinese cohorts and individuals of African and Middle Eastern descent from other cohorts. CONCLUSION: This study expands the genetic spectrum of BS patients with different ethnics, reveals some genotype/phenotype correlations, compares the findings with other cohorts, and provides a systematic review of the literature on the distribution of BS-related variants worldwide.
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Síndrome de Bartter , Gravidez , Feminino , Humanos , Síndrome de Bartter/genética , Brasil , Fenótipo , Mutação , Membro 1 da Família 12 de Carreador de Soluto/genética , Canais de Cloreto/genéticaRESUMO
Cancer is a substantial global health problem both in humans and animals with a consistent increase in mortality and incidence rate. The commensal microbiota has been involved in the regulation of several physiological and pathological processes, both within the gastrointestinal system and at distant tissue locations. Cancer is not an exception, and different aspects of the microbiome have been described to have anti- or pro-tumour effects. Using new techniques, for example high-throughput DNA sequencing, microbial populations of the human body have been largely described and, in the last years, studies more focused on companions' animals have emerged. In general, the recent investigations of faecal microbial phylogeny and functional capacity of the canine and feline gut have shown similarities with human gut. In this translational study we will review and summarize the relation between the microbiota and cancer, in humans and companion animals, and compare their resemblance in the type of neoplasms already studied in veterinary medicine: multicentric and intestinal lymphoma, colorectal tumours, nasal neoplasia and mast cell tumours. In the context of One Health, microbiota and microbiome integrative studies may contribute to the understanding of the tumourigenesis process, besides offering an opportunity to develop new diagnostics and therapeutic biomarkers both for veterinary and human oncology.
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Doenças do Gato , Doenças do Cão , Microbiota , Neoplasias , Animais , Gatos , Cães , Humanos , Neoplasias/veterinária , FezesRESUMO
OBJECTIVE: The aim of this study was to identify clinical and complete blood count differences between pediatric hospitalized patients with sickle cell disease infected or not by SARS-CoV-2 and compare the complete blood count of patients with sickle cell disease infected by SARS-CoV-2 before hospitalization and on admission. METHODS: This study was a single-center prospective cohort. Data were collected from medical records of pediatric inpatients with sickle cell disease under 18 years old infected or not with SARS-CoV-2 from the first visit to the hospital until discharge and from the last medical appointment. All patients were tested for SARS-CoV-2 by the real-time reverse transcription polymerase chain reaction. RESULTS: Among 57 pediatric patients with sickle cell disease hospitalized from March to November 2020 in a Brazilian academic hospital, 11 (19.3%) had a positive result for SARS-CoV-2. Patients infected by SARS-CoV-2 had a higher prevalence of comorbidities than the ones who were not infected (63.6 vs. 30.4%; p=0.046). During hospital stay, no clinical or complete blood count differences between groups were found. There was a decrease in eosinophil count on hospital admission in patients with sickle cell disease infected by SARS-CoV-2 (p=0.008). CONCLUSIONS: Pediatric hospitalized patients with sickle cell disease infected by SARS-CoV-2 had more comorbidities and had a decrease in eosinophil count between hospital admission and the last medical appointment.
Assuntos
Anemia Falciforme , COVID-19 , Humanos , Criança , Adolescente , SARS-CoV-2 , Estudos Prospectivos , ComorbidadeRESUMO
Electrocoagulation was investigated as a method for treating wastewater containing polyvinyl acetate (PVAc) from the furniture industry. The study evaluated the evolution of iron concentration and passivation during the treatment process. Laboratory-scale experiments were conducted to evaluate the effects of inter-electrode distance (d), current density, and mode on treatment performance. Three values of d (0.3, 0.6, and 0.9 cm) were studied and found to have no significant effect on performance. However, lower d values resulted in reduced energy consumption due to a decrease in applied voltage. Three values of current density (132, 158, and 197 A m-2) were studied under two current modes, Direct Current (DC) and Alternating Pulsed Current (APC). The best treatment performance for DC occurred under 158 A m-2 (the treated wastewater was characterized by pH = 4.59 ± 0.02, conductivity = 996 ± 21 µS cm-1, COD = 1940 ± 55 mgO2 L-1, TSS = 105 ± 14 mg L-1, and Fe = 50.39 ± 1.87 mgFe L-1). For APC, the best performance was achieved under 197 A m-2 (the treated wastewater was characterized by pH = 6.33 ± 0.06, conductivity = 988 ± 17 µS cm-1, COD = 1942 ± 312 mgO2 L-1, TSS = 199 ± 55 mg L-1, and Fe = 44.68 ± 4.60 mgFe L-1). Despite the promising results, treatment performance was insufficient to meet the legal requirements for water discharge. APC was found to be a more economically viable approach, as it reduced anode wear, electrode passivation, and energy consumption. The quantity of iron released increased with d, and the effect of current density on iron concentration was found to be non-linear. However, applying APC reduced the iron content for all tested current densities. The tests showed that EC was effective in removing chemical oxygen demand (COD) and total suspended solids (TSS), achieving removal efficiencies above 92% and 99%, respectively. However, the studied treatment procedures were insufficient to meet the EU legal requirements for water discharge. Therefore, the obtained wastewater should undergo a post-treatment process.