21 results on '"Vieira, Bruna"'
Search Results
2. SARCOPENIA IN THE ELDERLY AND THE RELATIONSHIP WITH THE PRACTICE OF PHYSICAL EXERCISE: RISK AND PROTECTIVE FACTORS/A SARCOPENIA EM IDOSOS E A RELACAO COM A PRATICA DE EXERCICIOS FISICOS: FATORES DE RISCO E DE PROTECAO/SARCOPENIA EN ANCIANOS Y LA RELACION CON LA PRACTICA DE EJERCICIO FISICO: FACTORES DE RIESGO Y PROTECCION
- Author
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Vieira, Bruna Piovana, Domingues Alvernaz, Camila Caroline, Araujo Ulhoa, Elisa, Kenedy Souza Vieira, Rodrigo, and Ulhoa, Savio Franscisco
- Published
- 2024
- Full Text
- View/download PDF
3. Isolated and mixed effects of pure and formulated abamectin and difenoconazole on biochemical biomarkers of the gills of Danio rerio
- Author
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Sanches, Ana Letícia Madeira, da Silva Pinto, Thandy Junio, Daam, Michiel Adriaan, Teresa, Fabrício Barreto, Vieira, Bruna Horvath, Reghini, Marina Vanderlei, de Almeida, Eduardo Alves, and Espíndola, Evaldo Luiz Gaeta
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- 2024
- Full Text
- View/download PDF
4. Psychological Impact and Quality of Life in Patients Who Received Solid Organ Transplantation
- Author
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Rojo, Leonardo Ribeiro, primary, Feitosa, Gabriella Dezordi Mandim, additional, Silva, Luís Miguel Amaral, additional, Sena, Mariana Pasqualotti, additional, Moura, Vitória Martins Granja de, additional, Nozawa, Christian Akira, additional, Moreira, Giovanna Mariotti, additional, Gonçalves, Lívia Tomita, additional, Queiroz, Natielly Aparecida Silva, additional, Vieira, Bruna Gomes, additional, Santos, Isabella Peixoto dos, additional, and Netto, Mauricio Lopes da Silva, additional
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- 2024
- Full Text
- View/download PDF
5. Cyanobacterial Blooms in City Parks: A Case Study Using Zebrafish Embryos for Toxicity Characterization.
- Author
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Vieira, Bruna, Amaral, João, Pereira, Mário Jorge, and Domingues, Inês
- Subjects
CYANOBACTERIAL blooms ,AQUATIC ecology ,URBAN biodiversity ,DOMESTIC animals ,AQUATIC organisms ,MICROCYSTIS - Abstract
Cyanobacteria are photosynthetic prokaryotes that play an important role in the ecology of aquatic ecosystems. However, they can also produce toxins with negative effects on aquatic organisms, wildlife, livestock, domestic animals, and humans. With the increasing global temperatures, urban parks, renowned for their multifaceted contributions to society, have been largely affected by blooms of toxic cyanobacteria. In this work, the toxicity of two different stages of development of a cyanobacterial bloom from a city park was assessed, evaluating mortality, hatching, development, locomotion (total distance, slow and rapid movements, and path angles) and biochemical parameters (oxidative stress, neurological damage, and tissue damage indicators) in zebrafish embryos/larvae (Danio rerio). Results showed significant effects for the samples with more time of evolution at the developmental level (early hatching for low concentrations (144.90 mg/L), delayed hatching for high concentrations (significant values above 325.90 mg/L), and delayed development at all concentrations), behavioral level (hypoactivity), and biochemical level (cholinesterase (ChE)) activity reduction and interference with the oxidative stress system for both stages of evolution). This work highlights the toxic potential of cyanobacterial blooms in urban environments. In a climate change context where a higher frequency of cyanobacterial proliferation is expected, this topic should be properly addressed by competent entities to avoid deleterious effects on the biodiversity of urban parks and poisoning events of wildlife, pets and people. [ABSTRACT FROM AUTHOR]
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- 2024
- Full Text
- View/download PDF
6. Development and Evaluation of fish-based Sauce Prepared with Mechanically Separated Meat of Hybrid Sorubim.
- Author
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Cavenaghi-Altemio, Ângela Dulce, Bazzo, Bianca Dias, Zambaldi, Carla Feitosa, Vieira, Bruna Martins, and Graciano Fonseca, Gustavo
- Subjects
BAMBOO shoots ,FATTY acids ,RAW materials ,SAUCES ,THICKENING agents - Abstract
The aim of the study was to develop a fish sauce made with mechanically separated meat (MSM) of hybrid sorubim (Pseudoplatystoma reticulatum x Pseudoplatystoma corruscans) with the addition of a mixture of epsyllium bamboo bud fiber as a thickener, using three treatments: T1: cooked sauce (control), T2: homogenized sauce (blended up to homogenization, and T3: mixed sauce (a mixture of the cooked and homogenized sauces). Microbiological, physical, chemical and sensory characteristics were evaluated. The raw materials and products obtained were within the microbiological standard limits established by international legislation. The color of the fish-based sauce was intensified by the addition of paprika. The addition of a mixture of bamboo shoot fiber and epsyllium contributed to the consistency of the sauce, ensuring greater functionality to the product. The acceptance rates were all above 70% and the purchase intentions above 60%. Therefore, the sauces would be well accepted if available for commercialization. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
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7. Manejo da osteomielite em ferida de adultos: Aspectos terapêuticos
- Author
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Vieira, Bruna Maria de Carvalho de Luca, primary, Di Piero, Karina Chamma, additional, and Pinto, Vitória Viana Gomes, additional
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- 2024
- Full Text
- View/download PDF
8. Framework for Multistakeholder Patient Registries in the Field of Rare Diseases: Focus on Neurogenetic Diseases
- Author
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Schoenmakers, Daphne H, van den Berg, Sibren, Timmers, Lonneke, Adang, Laura A, Bäumer, Tobias, Bosch, Annet, van de Casteele, Marc, Datema, Mareen R, Dekker, Hanka, Donnelly, Conan, Driessens, Mariëtte H E, Graessner, Holm, Greger, Valerie, Haddad, Tala, Höglinger, Günter U, van den Hout, Hannerieke, Jonker, Carla, Langeveld, Mirjam, Lambert, Laurie J, Neacy, Eileen, Nieuwland, Marc, Klockgether, Thomas, van der Knaap, Marjo S, Papadopoulou, Andri, Plueschke, Kelly, van Rijn, Sanne, Rosenberg, Noa, Saunier-Vivar, Elise F, Dos Santos Vieira, Bruna, Hollak, Carla E M, Goettsch, Wim G, Wolf, Nicole I, Schoenmakers, Daphne H, van den Berg, Sibren, Timmers, Lonneke, Adang, Laura A, Bäumer, Tobias, Bosch, Annet, van de Casteele, Marc, Datema, Mareen R, Dekker, Hanka, Donnelly, Conan, Driessens, Mariëtte H E, Graessner, Holm, Greger, Valerie, Haddad, Tala, Höglinger, Günter U, van den Hout, Hannerieke, Jonker, Carla, Langeveld, Mirjam, Lambert, Laurie J, Neacy, Eileen, Nieuwland, Marc, Klockgether, Thomas, van der Knaap, Marjo S, Papadopoulou, Andri, Plueschke, Kelly, van Rijn, Sanne, Rosenberg, Noa, Saunier-Vivar, Elise F, Dos Santos Vieira, Bruna, Hollak, Carla E M, Goettsch, Wim G, and Wolf, Nicole I
- Abstract
Progress in genetic diagnosis and orphan drug legislation has opened doors to new therapies in rare neurogenetic diseases (RNDs). Innovative therapies such as gene therapy can improve patients' quality of life but come with academic, regulatory, and financial challenges. Registries can play a pivotal role in generating evidence to tackle these, but their development requires multidisciplinary knowledge and expertise. This study aims to develop a practical framework for creating and implementing patient registries addressing common challenges and maximizing their impact on care, research, drug development, and regulatory decision making with a focus on RNDs. A comprehensive 3-step literature and qualitative research approach was used to develop the framework. A qualitative systematic literature review was conducted, extracting guidance and practices leading to the draft framework. Subsequently, we interviewed representatives of 5 established international RND registries to add learnings from hands-on experiences to the framework. Expert input on the draft framework was sought in digital multistakeholder focus groups to refine the framework. The literature search; interviews with 5 registries; and focus groups with patient representatives (n = 4), clinicians (n = 6), regulators, health technology assessment (HTA) bodies and payers (n = 7), industry representatives (n = 7), and data/information technology (IT) specialists (n = 5) informed development of the framework. It covers the interests of different stakeholders, purposes for data utilization, data aspects, IT infrastructure, governance, and financing of rare disease registries. Key principles include that data should be rapidly accessible, independent, and trustworthy. Governance should involve multiple stakeholders. In addition, data should be highly descriptive, machine-readable, and accessible through a shared infrastructure and not spread over multiple isolated repositories. Sustainable and independent fin
- Published
- 2024
9. Building Expertise on FAIR Through Evolving Bring Your Own Data (BYOD) Workshops: Describing the Data, Software, and Management-focused Approaches and Their Evolution
- Author
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CMM, CMM Groep Cuppen, Bernabé, César H., Thielemans, Lieze, Kaliyaperumal, Rajaram, Carta, Claudio, Zhang, Shuxin, van Gelder, Celia W.G., Benis, Nirupama, Santos, Luiz Olavo Bonino da Silva, Cornet, Ronald, Vieira, Bruna Dos Santos, Lalout, Nawel, Henriques, Ines, Ballesteros, Alberto Cámara, Burger, Kees, Kersloot, Martijn G., Ehrhart, Friederike, Enckevort, Esther van, Evelo, Chris T., Gray, Alasdair J.G., Hanauer, Marc, Hettne, Kristina, Ligt, Joep de, Pereira, Arnaldo, Queralt-Rosinach, Núria, Schultes, Erik, Taruscio, Domenica, Waagmeester, Andra, Wilkinson, Mark D., Willighagen, Egon L., Jansen, Mascha, Mons, Barend, Roos, Marco, Jacobsen, Annika, CMM, CMM Groep Cuppen, Bernabé, César H., Thielemans, Lieze, Kaliyaperumal, Rajaram, Carta, Claudio, Zhang, Shuxin, van Gelder, Celia W.G., Benis, Nirupama, Santos, Luiz Olavo Bonino da Silva, Cornet, Ronald, Vieira, Bruna Dos Santos, Lalout, Nawel, Henriques, Ines, Ballesteros, Alberto Cámara, Burger, Kees, Kersloot, Martijn G., Ehrhart, Friederike, Enckevort, Esther van, Evelo, Chris T., Gray, Alasdair J.G., Hanauer, Marc, Hettne, Kristina, Ligt, Joep de, Pereira, Arnaldo, Queralt-Rosinach, Núria, Schultes, Erik, Taruscio, Domenica, Waagmeester, Andra, Wilkinson, Mark D., Willighagen, Egon L., Jansen, Mascha, Mons, Barend, Roos, Marco, and Jacobsen, Annika
- Published
- 2024
10. Framework for Multistakeholder Patient Registries in the Field of Rare Diseases:Focus on Neurogenetic Diseases
- Author
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Schoenmakers, Daphne H., Van Den Berg, Sibren, Timmers, Lonneke, Adang, Laura A., Bäumer, Tobias, Bosch, Annet, Van De Casteele, Marc, Datema, Mareen R., Dekker, Hanka, Donnelly, Conan, Driessens, Mariëtte H.E., Graessner, Holm, Greger, Valerie, Haddad, Tala, Höglinger, Günter U., Van Den Hout, Hannerieke, Jonker, Carla, Langeveld, Mirjam, Lambert, Laurie J., Neacy, Eileen, Nieuwland, Marc, Klockgether, Thomas, Van Der Knaap, Marjo S., Papadopoulou, Andri, Plueschke, Kelly, Van Rijn, Sanne, Rosenberg, Noa, Saunier-Vivar, Elise F., Dos Santos Vieira, Bruna, Hollak, Carla E.M., Goettsch, Wim G., Wolf, Nicole I., Schoenmakers, Daphne H., Van Den Berg, Sibren, Timmers, Lonneke, Adang, Laura A., Bäumer, Tobias, Bosch, Annet, Van De Casteele, Marc, Datema, Mareen R., Dekker, Hanka, Donnelly, Conan, Driessens, Mariëtte H.E., Graessner, Holm, Greger, Valerie, Haddad, Tala, Höglinger, Günter U., Van Den Hout, Hannerieke, Jonker, Carla, Langeveld, Mirjam, Lambert, Laurie J., Neacy, Eileen, Nieuwland, Marc, Klockgether, Thomas, Van Der Knaap, Marjo S., Papadopoulou, Andri, Plueschke, Kelly, Van Rijn, Sanne, Rosenberg, Noa, Saunier-Vivar, Elise F., Dos Santos Vieira, Bruna, Hollak, Carla E.M., Goettsch, Wim G., and Wolf, Nicole I.
- Abstract
Progress in genetic diagnosis and orphan drug legislation has opened doors to new therapies in rare neurogenetic diseases (RNDs). Innovative therapies such as gene therapy can improve patients' quality of life but come with academic, regulatory, and financial challenges. Registries can play a pivotal role in generating evidence to tackle these, but their development requires multidisciplinary knowledge and expertise. This study aims to develop a practical framework for creating and implementing patient registries addressing common challenges and maximizing their impact on care, research, drug development, and regulatory decision making with a focus on RNDs. A comprehensive 3-step literature and qualitative research approach was used to develop the framework. A qualitative systematic literature review was conducted, extracting guidance and practices leading to the draft framework. Subsequently, we interviewed representatives of 5 established international RND registries to add learnings from hands-on experiences to the framework. Expert input on the draft framework was sought in digital multistakeholder focus groups to refine the framework. The literature search; interviews with 5 registries; and focus groups with patient representatives (n = 4), clinicians (n = 6), regulators, health technology assessment (HTA) bodies and payers (n = 7), industry representatives (n = 7), and data/information technology (IT) specialists (n = 5) informed development of the framework. It covers the interests of different stakeholders, purposes for data utilization, data aspects, IT infrastructure, governance, and financing of rare disease registries. Key principles include that data should be rapidly accessible, independent, and trustworthy. Governance should involve multiple stakeholders. In addition, data should be highly descriptive, machine-readable, and accessible through a shared infrastructure and not spread over multiple isolated repositories. Sustainable and independent fin
- Published
- 2024
11. A SARCOPENIA EM IDOSOS E A RELAÇÃO COM A PRÁTICA DE EXERCÍCIOS FÍSICOS: FATORES DE RISCO E DE PROTEÇÃO.
- Author
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Piovana Vieira, Bruna, Domingues Alvernaz, Camila Caroline, Araújo Ulhôa, Elisa, Souza Vieira, Rodrigo Kenedy, and Franscisco Ulhôa, Sávio
- Subjects
MUSCLE mass ,MUSCLE strength ,AGE ,SEDENTARY lifestyles ,OLD age ,SARCOPENIA - Abstract
Copyright of Revista Foco (Interdisciplinary Studies Journal) is the property of Revista Foco and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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- 2024
- Full Text
- View/download PDF
12. Obesidade secundária ao hipercortisolismo - relato de caso
- Author
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Vieira, Bruna Larocca, primary, Carciofi, Aulus Cavalieri, additional, Amoroso, Lizandra, additional, Ximenes, Thais de Oliveira, additional, Tavares, Fernanda Yamamoto, additional, and De Camargo, Ana Carolina de Andrade Leite, additional
- Published
- 2024
- Full Text
- View/download PDF
13. Uma revisão bibliográfica sobre a Divulgação Científica em eventos da área de Ensino de Química
- Author
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Eichholz Vieira, Bruna Gabriele, primary, de Mendonça, Roger Bruno, additional, dos Santos Pastoriza, Bruno, additional, and Cury Soares, Alessandro, additional
- Published
- 2024
- Full Text
- View/download PDF
14. Cyanobacterial Blooms in City Parks: A Case Study Using Zebrafish Embryos for Toxicity Characterization
- Author
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Vieira, Bruna, primary, Amaral, João, additional, Pereira, Mário, additional, and Domingues, Inês, additional
- Published
- 2024
- Full Text
- View/download PDF
15. NP3 MS Workflow: An Open-Source Software System to Empower Natural Product-Based Drug Discovery Using Untargeted Metabolomics.
- Author
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Bazzano, Cristina F., de Felicio, Rafael, Alves, Luiz Fernando Giolo, Costa, Jonas Henrique, Ortega, Raquel, Vieira, Bruna Domingues, Morais-Urano, Raquel Peres, Furtado, Luciana Costa, Ferreira, Everton L. F., Gubiani, Juliana R., Berlinck, Roberto G. S., Costa-Lotufo, Leticia V., Telles, Guilherme P., and B. B. Trivella, Daniela
- Published
- 2024
- Full Text
- View/download PDF
16. Isolated Benign Unilateral Episodic Mydriasis in Relation to Anxiety: A Case Report.
- Author
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Correia Barbosa, Renato, Vieira, Bruna, and Lemos, José Alberto
- Subjects
- *
MYDRIASIS , *MIGRAINE , *ANXIETY , *SYMPTOMS , *BLOOD testing - Abstract
Benign episodic mydriasis is a form of anisocoria that is characterised by isolated, episodic, and sporadic mydriasis, in the absence of accompanying neurological or systemic signs or symptoms. The diagnosis is established after other causes of anisocoria have been excluded. The purpose of this case report is to describe a case of benign episodic mydriasis of her right pupil in a 23-year-old female patient. The episodes lasted for 5–10 minutes and occurred spontaneously, without any concomitant symptoms or precipitating factors. The frequency of the episodes was variable, but she reported that it worsened in periods when she felt more mentally stressed or anxious. Contact with any kind of medications, homoeopathic drugs, industrial agents, or any other kind of chemical compounds was excluded, and the remaining neurological and systemic examination was unremarkable. Blood tests were taken and imaging was performed, which ruled out a structural lesion. A diagnosis of isolated benign episodic mydriasis was established. Unlike the typical presentation of the condition, the episodes did not occur in association with any form of migraine or headache. Given the benign nature of the condition, no treatment was instituted. After excluding potentially severe causes, and reassuring the patient, the frequency of the episodes decreased. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF
17. P426-LB: Knowledge towards syphilis among urban adults in Rio Grande do Sul, Brazil: preliminary results from a population-based cross-sectional household survey.
- Author
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Vieira, Bruna Angelo, Bidinotto, Augusto B., Eidt, Gustavo, and Wendland, Eliana Márcia
- Abstract
Background: Poor knowledge about syphilis might contribute to its dissemination. This study aimed to assess the knowledge of the urban population of Rio Grande do Sul about syphilis and its associated factors, including presence of active syphilis infection. Methods: This cross-sectional study was representative of the urban population of the state of Rio Grande do Sul. Data collection, consisting of an in-person interview and capillary blood collection, was carried out between December 2020 and December 2022. Laboratory tests and quality control procedures were concluded by February 2023. Knowledge about syphilis was assessed by means of six items in the questionnaire: A)"Can a person that looks healthy be infected by syphilis?"; B)"Is there a cure for syphilis?"; C)"Is using a condom during sexual intercourse the best way to avoid syphilis?"; D)"Can syphilis infection increase the risk of transmitting or acquiring HIV/AIDS?"; E)"Can a pregnant woman infected with syphilis transmit the disease to her baby?"; F)"Can syphilis be transmitted by a handshake?". Participants that provided at least 4 correct answers were considered having adequate knowledge. Active syphilis infection was determined by a positive enzyme-linked immunosorbent assay and a positive confirmatory test (Venereal Disease Research Laboratory test or Treponema pallidum Hemagglutination Assay). Comparisons between those with adequate versus inadequate knowledge were made using chi-squared tests analyzing sex, age, educational level, condom use in the last sexual intercourse and active syphilis infection. Analyses took sample weights into account. Results: In total 7963 participants contributed with valid data to the study. Mean age was 49.1 (SE ± 0.7) years and 64.2% were female. Overall, 85% of participants presented adequate knowledge about syphilis. Separately, proportions of correct answers for A to F were: 89.3%; 61.1%; 93.6%; 69.8%; 68.1% and 85.6%, respectively. Age, educational level, condom use and active syphilis infection were associated with knowledge about syphilis. Conclusion: In this population of urban adults from Rio Grande do Sul, being younger and more educated was associated with adequate knowledge about syphilis. Active syphilis infection was also associated with adequate knowledge. [ABSTRACT FROM AUTHOR]
- Published
- 2024
18. P151-LB: Self-perception of HIV infection risk and its associated factors in the general population of a southern Brazilian state.
- Author
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Bidinotto, Augusto B., Vieira, Bruna Angelo, Eidt, Gustavo, and Wendland, Eliana Márcia
- Abstract
Background: Rio Grande do Sul is a state in southern Brazil with an HIV epidemic with different characteristics than those of the rest of the country. This study aimed to assess the self-perception of risk of HIV infection in the population of Rio Grande do Sul. Methods: This cross-sectional study, which was representative of the urban adult population of Rio Grande do Sul, was carried out between December 2020 and February 2023. Data collection includes an in-person interview and the collection of a capillary blood sample. Self-perception of HIV risk infection was assessed by the item "How do you assess your risk of being infected by HIV/AIDS?", with the following alternatives: "No risk", "Low risk", "Medium risk" and "High risk". HIV infection was defined by a positive enzyme-linked immunosorbent assay and a detectable viral load test or rapid immunoblot assay. Participants with previously known HIV infection were excluded from this study. We used the Brazilian Criteria to define social status. Education level was categorized as "9th grade or less", "10-th grade - high schools graduate", "College (includes incomplete)". Sexual orientation was aggregated into two categories: heterosexual or nonheterosexual. The reported number of sexual partners in the last year was categorized into "one", "two or "three" or "more than three". Weighted frequencies were calculated taking into account probability weights for sex and municipality strata, and comparisons between groups were tested by means of chi-square tests. Results: In total, 4231 participants were included. Of these 51.7% perceived "No risk" of HIV infection, 39.6% perceived "Low risk" of HIV infection, 5.9% perceived "Medium risk" and 2.9% perceived "High risk". There were significant differences in selfreported risk according to age, social status, education level, sexual orientation, number of sexual partners and condom use in the last intercourse. There was no association between self-perceived risk and HIV infection. Conclusion: Older, poorer and less educated people perceived lower risk of HIV infection. Nonheterosexual persons, and persons with more than 1 partner in the last year perceived higher risk of HIV infection. Self-perceived risk of infection was not associated with HIV infection. [ABSTRACT FROM AUTHOR]
- Published
- 2024
19. NP3MS Workflow: An Open-Source Software System to Empower Natural Product-Based Drug Discovery Using Untargeted Metabolomics
- Author
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Bazzano, Cristina F., de Felicio, Rafael, Alves, Luiz Fernando Giolo, Costa, Jonas Henrique, Ortega, Raquel, Vieira, Bruna Domingues, Morais-Urano, Raquel Peres, Furtado, Luciana Costa, Ferreira, Everton L. F., Gubiani, Juliana R., Berlinck, Roberto G. S., Costa-Lotufo, Leticia V., Telles, Guilherme P., and B. B. Trivella, Daniela
- Abstract
Natural products (or specialized metabolites) are historically the main source of new drugs. However, the current drug discovery pipelines require miniaturization and speeds that are incompatible with traditional natural product research methods, especially in the early stages of the research. This article introduces the NP3MS Workflow, a robust open-source software system for liquid chromatography–tandem mass spectrometry (LC–MS/MS) untargeted metabolomic data processing and analysis, designed to rank bioactive natural products directly from complex mixtures of compounds, such as bioactive biota samples. NP3MS Workflow allows minimal user intervention as well as customization of each step of LC–MS/MS data processing, with diagnostic statistics to allow interpretation and optimization of LC–MS/MS data processing by the user. NP3MS Workflow adds improved computing of the MS2spectra in an LC–MS/MS data set and provides tools for automatic [M + H]+ion deconvolution using fragmentation rules; chemical structural annotation against MS2databases; and relative quantification of the precursor ions for bioactivity correlation scoring. The software will be presented with case studies and comparisons with equivalent tools currently available. NP3MS Workflow shows a robust and useful approach to select bioactive natural products from complex mixtures, improving the set of tools available for untargeted metabolomics. It can be easily integrated into natural product-based drug-discovery pipelines and to other fields of research at the interface of chemistry and biology.
- Published
- 2024
- Full Text
- View/download PDF
20. Framework for Multistakeholder Patient Registries in the Field of Rare Diseases: Focus on Neurogenetic Diseases.
- Author
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Schoenmakers DH, van den Berg S, Timmers L, Adang LA, Bäumer T, Bosch A, van de Casteele M, Datema MR, Dekker H, Donnelly C, Driessens MHE, Graessner H, Greger V, Haddad T, Höglinger GU, van den Hout H, Jonker C, Langeveld M, Lambert LJ, Neacy E, Nieuwland M, Klockgether T, van der Knaap MS, Papadopoulou A, Plueschke K, van Rijn S, Rosenberg N, Saunier-Vivar EF, Dos Santos Vieira B, Hollak CEM, Goettsch WG, and Wolf NI
- Subjects
- Humans, Nervous System Diseases therapy, Rare Diseases therapy, Registries
- Abstract
Progress in genetic diagnosis and orphan drug legislation has opened doors to new therapies in rare neurogenetic diseases (RNDs). Innovative therapies such as gene therapy can improve patients' quality of life but come with academic, regulatory, and financial challenges. Registries can play a pivotal role in generating evidence to tackle these, but their development requires multidisciplinary knowledge and expertise. This study aims to develop a practical framework for creating and implementing patient registries addressing common challenges and maximizing their impact on care, research, drug development, and regulatory decision making with a focus on RNDs. A comprehensive 3-step literature and qualitative research approach was used to develop the framework. A qualitative systematic literature review was conducted, extracting guidance and practices leading to the draft framework. Subsequently, we interviewed representatives of 5 established international RND registries to add learnings from hands-on experiences to the framework. Expert input on the draft framework was sought in digital multistakeholder focus groups to refine the framework. The literature search; interviews with 5 registries; and focus groups with patient representatives (n = 4), clinicians (n = 6), regulators, health technology assessment (HTA) bodies and payers (n = 7), industry representatives (n = 7), and data/information technology (IT) specialists (n = 5) informed development of the framework. It covers the interests of different stakeholders, purposes for data utilization, data aspects, IT infrastructure, governance, and financing of rare disease registries. Key principles include that data should be rapidly accessible, independent, and trustworthy. Governance should involve multiple stakeholders. In addition, data should be highly descriptive, machine-readable, and accessible through a shared infrastructure and not spread over multiple isolated repositories. Sustainable and independent financing of registries is deemed important but remains challenging because of a lack of widely supported funding models. The proposed framework will guide stakeholders in establishing or improving rare disease registries that fulfill requirements of academics and patients as well as regulators, HTA bodies, and commercial parties. There is a need for more clarity regarding quality requirements for registries in regulatory and HTA context. In addition, independent financing models for registries should be developed, as well as well-defined policies on technical uniformity in health data.
- Published
- 2024
- Full Text
- View/download PDF
21. NP 3 MS Workflow: An Open-Source Software System to Empower Natural Product-Based Drug Discovery Using Untargeted Metabolomics.
- Author
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Bazzano CF, de Felicio R, Alves LFG, Costa JH, Ortega R, Vieira BD, Morais-Urano RP, Furtado LC, Ferreira ELF, Gubiani JR, Berlinck RGS, Costa-Lotufo LV, Telles GP, and B B Trivella D
- Subjects
- Chromatography, Liquid methods, Workflow, Biological Products chemistry, Biological Products metabolism, Biological Products analysis, Metabolomics, Software, Tandem Mass Spectrometry, Drug Discovery
- Abstract
Natural products (or specialized metabolites) are historically the main source of new drugs. However, the current drug discovery pipelines require miniaturization and speeds that are incompatible with traditional natural product research methods, especially in the early stages of the research. This article introduces the NP
3 MS Workflow, a robust open-source software system for liquid chromatography-tandem mass spectrometry (LC-MS/MS) untargeted metabolomic data processing and analysis, designed to rank bioactive natural products directly from complex mixtures of compounds, such as bioactive biota samples. NP3 MS Workflow allows minimal user intervention as well as customization of each step of LC-MS/MS data processing, with diagnostic statistics to allow interpretation and optimization of LC-MS/MS data processing by the user. NP3 MS Workflow adds improved computing of the MS2 spectra in an LC-MS/MS data set and provides tools for automatic [M + H]+ ion deconvolution using fragmentation rules; chemical structural annotation against MS2 databases; and relative quantification of the precursor ions for bioactivity correlation scoring. The software will be presented with case studies and comparisons with equivalent tools currently available. NP3 MS Workflow shows a robust and useful approach to select bioactive natural products from complex mixtures, improving the set of tools available for untargeted metabolomics. It can be easily integrated into natural product-based drug-discovery pipelines and to other fields of research at the interface of chemistry and biology.- Published
- 2024
- Full Text
- View/download PDF
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