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151. Ferramentas tecnológicas aplicadas no campo da hanseníase

Author

Rafael Everton Assunção Ribeiro da Costa, Fergus Tomas Rocha de Oliveira, Vitoria Neris Rebelo Veras, Juliana do Nascimento Sousa, Sandra Marina Gonçalves Bezerra, and Dario Brito Calçada

Subjects
Aplicações da Informática Médica, Tecnologia em Saúde, Hanseníase, Mycobacterium leprae, Infectious and parasitic diseases, RC109-216
Abstract

Introdução: a hanseníase é uma doença infectocontagiosa causada pela bactéria Mycobacterium leprae, permanecendo importante causa de morbimortalidade em países como Índia, Brasil e Indonésia. Objetivo: realizar um mapeamento sistemático das pesquisas primárias disponíveis na literatura sobre o uso de ferramentas tecnológicas aplicadas no campo da hanseníase. Metodologia: a questão de pesquisa foi: “Quais ferramentas existem para estudo remoto da hanseníase?”. Aplicou-se estratégia de busca específica nas bases PubMed, Scopus e Web of Science, tendo sido incluídos todos os artigos científicos publicados em inglês, português ou espanhol, no período entre 2015 e 2021, e que estivessem no escopo da pesquisa. Os dados foram extraídos com uso de questionário estruturado e avaliou-se o risco de viés dos estudos incluídos. Resultados: a metodologia empregada permitiu a seleção de 15 artigos científicos. Predominaram estudos realizados no Brasil, na Índia e na Indonésia, indexados no PubMed e publicados entre 2020 e 2021. Os estudos avaliados mostraram o uso de ferramentas tecnológicas na hanseníase nas mais diversas plataformas, com resultados promissores para a saúde primária, condução dos casos e pesquisa. Contudo, ainda de forma incipiente. Conclusão: este mapeamento sistemático indica a necessidade de mais estudos, com maior robustez, acerca do uso de ferramentas tecnológicas no enfrentamento da hanseníase em nível de saúde e pesquisa.

Published
2024
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152. The earliest evidence of the Phoenician presence in Lisbon: the Sommer Warehouses interventions (Rua Cais de Santarém, Lisbon)

Author

Elisa Sousa, Ricardo Ribeiro, Paulo Rebelo, and Nuno Neto

Subjects
Western Iberian Peninsula, Iron Age, Defensive and port-related structures, Material culture, Phoenician colonization, Archaeology, CC1-960
Abstract

Archaeological excavations carried out at the ancient Sommer Warehouses, in Lisbon (Portugal), have allowed the identification of a complex phasing related to the Iron Age occupation, incorporating distinct construction phases. In this study, architectural, stratigraphic, and material data from the earliest moments of this occupation (phases II to IV) are analysed. Their chronology seems to span from the second half of the 8th century BC to the beginning of the following century. Elements of both defensive and port-related character were identified. The associated archaeological material is significant, including handmade ceramics and wheel-thrown vessels, with possibly an exogenous origin for the latter. This constitutes a body of evidence of great importance in the context of urban archaeology in Lisbon, allowing for a characterization of the early moments of Iron Age occupation.

Published
2024
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153. Sensitivity analysis and pre-feasibility of reprocessing Au from a tailings dam in the Iron Quadrangle - The case of the Cocoruto Dam, Nova Lima, Minas Gerais

Author

Mariana Gazire Lemos, Paulo Henrique da Silva Lack, Teresa Maria Valente, Amélia Paula Marinho Reis, Amália Sequeira Braga, Rita Maria Ferreira Fonseca, Fernanda Guabiroba, José Gregório da Mata Filho, Marcus Felix Magalhães, and Giovana Rebelo Diório

Subjects
circular economy, mining tailings, Au recovery, Benefit Function, feasibility., Mining engineering. Metallurgy, TN1-997, Engineering (General). Civil engineering (General), TA1-2040
Abstract

Abstract As historical waste has accumulated in dams, the interest in studying the feasibility of reusing mining tailings has grown, offering both environmental and economic advantages. However, given the unique characteristics of each site, conducting site-specific assessments is crucial. Building on a detailed evaluation of the Cocoruto Dam in Nova Lima, Minas Gerais, this study presents a technical feasibility and financial viability analysis of three potential reprocessing scenarios. The primary objective was to assess the viability and potential benefits of reusing Au tailings. The proposed methods involve grinding, calcination and leaching, with designs adaptable for existing metallurgical plants. Considering the economic potential of Au in these inactive mine tailings (with an average grade of 0.95 mg/kg and a total resource of 3,350.55 tonnes), multiple factors were analyzed to determine the feasibility of Au production from this source. Analyzed variables included: cut-off grades and tonnage for each scenario; net present value (NPV) calculated with an 8% annual discount rate; a general slope angle of 20 degrees; three possible final pit configurations; different annual production rates (400,000 t, 800,000 t and 1,000,000 t), and various Au ounce values ($1300/oz, $1500/oz, and $1700/oz). From a financial perspective, for all ounce values and an annual production of 400 tonnes, all scenarios prove profitable. However, other risks and parameters should be further evaluated.

Published
2024
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154. Dual challenge inside the womb: a case report of concomitant fetal atrio-ventricular block associated with maternal anti-SSA antibodies and fetal tachyarrhythmia diagnosed as Wolff-Parkinson-White syndrome after birth

Author

Ana Teodósio Chícharo, Mónica Rebelo, Ana Rita Lopes, Maria João Saavedra, Maria Filipa Paramés, Ana Rita Araújo, Ana Rita Cruz-Machado, Luísa Pinto, and Susana Capela

Subjects
case report, fetal atrio-ventricular block, congenital heart block, Wolff-Parkinson-White syndrome, pregnancy, anti-SSA/Ro antibodies, Immunologic diseases. Allergy, RC581-607
Abstract

Fetal autoimmune atrioventricular block (AVB) is a rare but potentially life-threatening condition. It results from the passage of maternal anti-SSA/Ro or Anti SSB/La auto-antibodies into the fetal circulation, leading to inflammation and fibrosis of the AV node and often to irreversible damage. Besides AVB, these antibodies can also cause cardiomyopathies, but there is no evidence linking them to tachyarrhythmias. We present the case of a patient with significant risk factors for fetal AVB: a prior history of hydrops fetalis, high anti-SSA/Ro antibody levels and hypothyroidism. In this case, the use of dexamethasone and intravenous immunoglobulin may have contributed to reversing the first-degree atrioventricular block detected at 19 weeks of gestation. Additionally, at 21 weeks, the fetus developed a tachyarrhythmia that needed treatment with flecainide. Soon after the birth, the newborn underwent ECG Holter and Wolff-Parkinson-White Syndrome (WPWS) was diagnosed. To our knowledge, the coexistence of fetal AVB and WPWS has never been described.

Published
2024
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155. Os sem sentimento: associação para o tráfico da culpa e a reincidência

Author

Gustavo Rebelo Coelho de Oliveira and Pierre de Souza Monteiro

Subjects
Socioeducação, Psicanálise, Sociedade, Education
Abstract

Em nosso dispositivo de escuta numa unidade socioeducativa de internação, encontramos uma pista disparadora da proposta teórica que aqui apresentamos. A expressão “tropa do fuzil sem sentimento”, escrita sobre uma mesa, mobiliza este trabalho. Em sua estrutura linguística, em sua presença na cultura funk, assim como na fala dos meninos, partimos dela para uma interpretação psicanalítica, a partir dos conceitos de projeção, identificação, negação, medo social e culpa em Freud, assim como de verdade em Lacan. Articulados ainda à ideia de necropolítica em Mbembe e da corporeidade como a origem do medo no racismo contra o negro em Fanon, sugerimos que é perseguindo o manejo inconsciente da culpa que podemos revelar a estrutura de nosso sistema social. Um sistema, que nossa interpretação conclui operar, sob o manto protetor da santificação do prefixo “sócio”, aqui entendido como a marca do recalque, para a reincidência, instituindo tratamentos para a repetição do sintoma.

Published
2024
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156. Multivisceral Oncological Resections Involving the Pancreas: Protocol for a Systematic Review and Meta-Analysis

Author

Melina Neuhaus, Juliane Friedrichs, Maurizio Grilli, Jörg Ukkat, Johannes Klose, Ulrich Ronellenfitsch, Jörg Kleeff, and Artur Rebelo

Subjects
Medicine, Computer applications to medicine. Medical informatics, R858-859.7
Abstract

BackgroundWith the continuous advancement of cancer treatments, a comprehensive analysis of the impact of multivisceral oncological pancreatic resections on morbidity, mortality, and long-term survival is currently lacking. ObjectiveThis manuscript presents the protocol for a systematic review and meta-analysis designed to summarize the existing evidence concerning the outcomes of multivisceral oncological pancreatic resections across diverse tumor entities. MethodsWe will conduct a systematic search of the PubMed or MEDLINE, Embase, Cochrane Library, CINAHL, and ClinicalTrials.gov databases in strict accordance with the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. The predefined outcomes encompass postoperative mortality, postoperative morbidity, overall and disease-free survival (1- to 5-year survival rates), the proportion of macroscopically complete (R0) resections (according to the Royal College of Pathologists definition), duration of hospital stay (in days), reoperation rate (%), postoperative complications (covering all complications according to the Clavien-Dindo classification), as well as pancreatic fistula, postpancreatectomy hemorrhage, and delayed gastric emptying (all according to the definitions of the International Study Group of Pancreas Surgery). ResultsSystematic database searches will begin in July 2024. The completion of the meta-analysis is anticipated by December 2024. Before completion, the literature search will be checked for new publications that must be considered in the context of the work. ConclusionsThe forthcoming findings will provide an up-to-date overview of the feasibility, safety, and oncological efficacy of multivisceral pancreatic resections across diverse tumor entities. This data will serve as a valuable resource for health care professionals and patients to make well-informed clinical decisions. Trial RegistrationPROSPERO CRD42023437858; https://tinyurl.com/bde5xmfw International Registered Report Identifier (IRRID)PRR1-10.2196/54089

Published
2024
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157. The Determinants of Education-Job Matching for Portuguese Graduates

Author

Daniela Olo, Leonida Correia, Conceição Rego, and João Rebelo

Subjects
Employability, Graduates, Higher Education, Education-Job Matching Determinants, Economic growth, development, planning, HD72-88, Economic theory. Demography, HB1-3840
Abstract

This paper deals with the determinants of education-job match for higher-education graduates, using a logistic regression model to identify explanatory variables related to sociodemographic, academic trajectory and institutional characteristics. The empirical analysis is based on an anonymous online questionnaire administered to a sample of graduates, from 2014 to 2019, in Portuguese institutions, of which about five hundred observations were made. Although the boundaries between universities and polytechnics are less obvious today, there are still some differences between the two higher-education subsystems regarding education-job match. The main ones are related to the field of study, gender, and the need to move away from home to study and work. Factors that improve the probability of education-job matching, common to both subsystems, were also found, such as having i) studied ‘social sciences, commerce, and law’ and ‘engineering, manufacturing and construction’, ii) attained good final grades, and iii) participated in extracurricular activities involving complementary training.

Published
2024
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158. Comparing native and non-native seed-isolated strains for drought resilience in maize (Zea mays L.)

Author

Tatiana Gil, Inês Rebelo Romão, Joana do Carmo Gomes, Omar Vergara-Diaz, Lucas Amoroso Lopes de Carvalho, Andre Sousa, Flavia Kasa, Raquel Teixeira, Sara Mateus, Artūrs Katamadze, Daniel Guariz Pinheiro, Rubén Vicente, and Juan Ignacio Vílchez

Subjects
Seedborne microbiota, Water scarcity, Biotreatment, Sustainable agriculture, Phenomic traits, Plant ecology, QK900-989
Abstract

Maize, a vital crop for human nutrition, livestock, and industrial development, faces increasingly severe climatic conditions that hinder its production capacity along with other strategic crops. Novel treatments based on microorganisms have demonstrated efficiency in enhancing plant development and responding to stress. The use of bacteria isolated from seeds is a novel approach for biotreatment, as recent studies point to a co-evolution process for their presence in seeds. This approach hypothesize a pre-adaptation to its host, which may lead to increased efficiency. However, several aspects of this approach remain understudied. In this study, we aimed to evaluate the potential of native maize seed microbiota in comparison to that isolated from other species to mitigate drought stress. For this we characterized seedborne microbiota of a common productive maize variety in Portugal, to use it as biotreatment in other two varieties (sensitive and resistant to drought), selecting the strain Pseudomonas fulva MB as the most promising candidate. Stenotrophomonas maltophilia MS-M1 strain, isolated from wild alfalfa seeds and previously characterized as a drought-tolerant enhancer, served as a non-native control strain. According to the data, both varieties of maize demonstrated enhanced vegetative growth when treated with both individual strains, as well with the consortium, with an increase in plant height of 5–7 % in full and medium irrigation, and 50–55 % when not irrigated. This trend was also observed in plant weight, which increased by 13–23 %, even under no irrigation. In addition, production in both varieties was positively impacted by these treatments, based on the amount of grain produced (by weight). The drought-sensitive variety experienced a 17 % increase under full irrigation, while the most tolerant variety experienced a 25–40 % increase. Under medium irrigation level, the increase was about 15 % in both varieties, while a 100 % and 140 % increase was observed in each variety, respectively, when no irrigation was applied. The results suggest that native strain the P. fulva MB was slightly more efficient treatment, as it outperformed the non-native strain in terms of productivity in both varieties. However, the differences were not solid enough along all parameters to consistently asses such difference. The consortium treatment only showed better performance under full or medium irrigation conditions for some production traits. These findings support the use of seed microbiota as very efficient biotreatments, suggesting than even non-native strains have a remarkable beneficial impact (interspecific), expanding the possible of use of this kind of bioinoculants. Further test are required to optimize the use of seed-isolated strains as better adapted or tailor-made solutions for agriculture.

Published
2024
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167. Integrability of vector fields and meromorphic solutions

Author

Rebelo, Julio C. and Reis, Helena

Subjects
Mathematics - Dynamical Systems, Mathematics - Classical Analysis and ODEs, Mathematics - Complex Variables
Abstract

Let $\mathcal{F}$ be a foliation defined on a complex projective manifold $M$ of dimension $n$ and admitting a holomorphic vector field $X$ tangent to it along some non-empty Zariski-open set. In this paper we prove that if $X$ has sufficiently many integral curves that are given by meromorphic functions defined on $\mathbb{C}$ then the restriction of $\mathcal{F}$ to any invariant complex $2$-dimensional analytic set admits a first integral of Liouvillean type. In particular, on $\mathbb{C}^3$, every rational vector fields whose solutions are meromorphic functions defined on $\mathbb{C}$ admits a non-empty invariant analytic set of dimension $2$ where the restriction of the vector field yields a Liouvillean integrable foliation.

Published
2022

168. A Multi-Objective Model for Thesis Defence Scheduling

Author

Almeida, João, Santos, Daniel Rebelo dos, and Figueira, José Rui

Subjects
Mathematics - Optimization and Control
Abstract

We address the thesis defence scheduling problem, a critical academic scheduling management process, which has been overshadowed in the literature by its counterparts, course timetabling and exam scheduling. Specifically, the single defence assignment type of thesis defence scheduling problems, where each committee is assigned to a single defence, scheduled for a specific day, hour and room. We formulate a multi-objective mixed-integer linear programming model, which aims to be a general representation of the problem mentioned above, and that can, therefore, be applied to a broader set of cases than other models present in the literature, which have a focus on the characteristics of their universities. We introduce a new decision variable, propose constraint formulations that are not policy specific, and offer new takes on the more common objectives seen in the literature. We also include new objective functions based on our experience with the problem at our university. We also propose a two-stage solution approach. The first stage is employed to find the number of schedulable defences, enabling the optimisation of instances with unschedulable defences. The second stage is an implementation of the augmented e-constraint method, which allows for the search of a set of different and non-dominated solutions while skipping redundant iterations. A novel instance generator for thesis scheduling problems is presented. Its main benefit is the generation of the availability of committee members and rooms in availability and unavailability blocks, resembling their real-world counterparts. A set of 96 randomly generated instances of varying sizes is solved and analysed. The proposed method can find the optimal number of schedulable defences and present non-dominated solutions within the set time limits for every tested instance., Comment: 45 pages, 12 figures

Published
2022

169. Two dark matter candidates in three-Higgs-doublet models with $S_3$ symmetry

Author

Kunčinas, A., Ogreid, O. M., Osland, P., and Rebelo, M. N.

Subjects
High Energy Physics - Phenomenology
Abstract

Models with an extended scalar electroweak sector can have vanishing vacuum expectation values in a basis where an underlying symmetry is imposed. Such extensions are very well motivated. If a symmetry prevents couplings between fermions and additional scalars, such scalars could become viable dark matter candidates if some additional criteria are satisfied. We catalogue $S_3$-symmetric three-Higgs-doublet models, also allowing for softly broken $S_3$-symmetric scalar potential terms, based on whether a specific model could possibly accommodate a dark matter candidate. The variety of the $S_3$-symmetric family models arises due to different possibilities to arrange vacuum expectation values. Such models can have vacua with one or two vanishing vacuum expectation values. In our study we assume that the dark matter candidate is stabilised by the $\mathbb{Z}_2$ symmetry. The $\mathbb{Z}_2$ symmetry is a remnant of $S_3$ symmetry which survived spontaneous symmetry breaking, and not superimposed over $S_3$. We explore two models; with an without CP violation. These models have a single dark and two active scalar sectors. The active sectors behave in many aspects like a Type-I two-Higgs-doublet model. The dark matter candidate masses, in two cases, are different from the known (previously studied) models with three scalar doublets. After investigating the models in detail, identifying parameters compatible with both theoretical and experimental constraints, we found that the dark matter candidate mass could be within the range of $[52.5,\,89]~\text{GeV}$ or $[6.5,\,44.5]~\text{GeV}$ for a model with CP violation., Comment: 6 pages, 3 figures, to be published in the Proceedings of DISCRETE 2020-2021: 7th Symposium on Prospects in the Physics of Discrete Symmetries, 29th November - 3rd December 2021, Bergen, Norway; v2: Minor changes

Published
2022

170. Dark matter in a CP-violating three-Higgs-doublet model with $S_3$ symmetry

Author

Kunčinas, A., Ogreid, O. M., Osland, P., and Rebelo, M. N.

Subjects
High Energy Physics - Phenomenology
Abstract

In spite of the success of the Standard Model of Particle Physics, there are some theoretical predictions which are not yet fully established experimentally as well as some experimental observations which cannot be fitted within its theoretical framework, thus requiring physics beyond the Standard Model. One of these is a hypothetical non-luminous form of matter - dark matter. Models with an extended scalar electroweak sector yield plausible dark matter candidates. In this paper we study a specific model, C-III-a, from a family of $S_3$-symmetric three-Higgs-doublet models. The model consists of two active SU(2) doublets and an inert one. The latter is inert due to a $\mathbb{Z}_2$ symmetry that survives the breaking of $S_3$, and would accommodate a dark matter particle. We explore the model numerically, based on theoretical and experimental constraints. After applying a number of successive checks over the parameter space we found a viable dark matter mass region in the range $[6.5;\,44.5]~\text{GeV}$. This region is drastically different from the Higgs-like dark matter states that have been proposed: the well-known Inert Doublet Model and models with three scalar doublets, with one or two inert doublets. Furthermore, the C-III-a model allows for spontaneous CP violation., Comment: 40 pages, 12 figures. v2: PRD version, minor clarifications. arXiv admin note: text overlap with arXiv:2108.07026

Published
2022
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171. Mapping Spontaneous Cooperation between Children in Automata Construction Workshops

Author

Bidarra, Graça, Santos, Anália, Vaz-Rebelo, Piedade, Thiel, Oliver, Barreira, Carlos, Alferes, Valentim, Almeida, Joana, Machado, Inês, Bartoletti, Corinna, Ferrini, Francesca, Hanssen, Signe, Lundheim, Rolv, Moe, Jørgen, Josephson, Joel, Velkova, Veneta, and Kostova, Nelly

Abstract

This work analyzes spontaneous cooperation between children who participated in Automata for STEM, European Union funded Erasmus+ project workshops. Taking into account the characteristics of automata, that involve a narrative part and a mechanism, the project used them to implement contextualized and interdisciplinary STEM activities. The pedagogical method involved the presentation of automata, and children being challenged to plan and construct their own. Although no cooperative learning strategies were imposed during the workshops, this research aimed to identify types of spontaneous cooperation that could emerge among children. Data was gathered through participant observation and a questionnaire. Core dimensions of spontaneous cooperation were identified as well as specific dimensions, pointing to a divergent type, characterized by involvement between pairs of children in different projects, and to another type, convergent, involving work between pairs of children in the same project. Spontaneous cooperation also varied according to the children's age or the workshop structure. During workshops with children aged 6-7 years, the class teacher was present and provided guidance, the children were seated in pairs or in a presentation arrangement. During workshops for older children of 8-9 years of age, there was less guidance and the class teacher sometimes was not even in the room the children worked at round tables.

Published
2021

172. Extended School Time: Impact on Learning and Teaching

Author

Mendes, Pedro Cabral, Leandro, Cristina Rebelo, Campos, Francisco, Fachada, Miguel, Santos, Ana Paula, and Gomes, Ricardo

Abstract

This paper presents and assesses the effects of an Extended School Time project (ESTp), with a working day of 8 contact hours, that aimed to develop the students as a whole in its academic, artistic, sport, social and human dimensions. Based in active and integrated pedagogical practices, the project promoted the integration of knowledges, curiosity, sense of criticism, creativity, sharing solidarity and the conviviality of students. This project was applied to a 6th grade class with 20 pupils (11.2±0.68 years old). Using a qualitative methodology, 13 semi structured interviews were applied to 3 types of participants: 6 pupils, 5 parents (42.6±4.54 years old) and 2 teachers (60±4 years old), in order to analyze their perceptions regarding the project. Results show that each group valued different aspects of the project. The pupils valued activities that emphasized challenge, communication, creativity, and autonomy, as well as activities of academic continuity. The parents focused mostly on the occupational component of Extended School Time (ESTp), and the teachers on its effects on social and self-development of the pupils. This development was reflected in an improved peer-to-peer relationship and in a greater sense of belonging to school. The convergence verified in this ESTp, between cognition and the artistic, social and sport education, sought to promote the main goal of the School, an instruction that promotes a global (including multicultural and universal) development of the pupils' capabilities.

Published
2021

178. Endothelial protein disulfide isomerase A1 enhances membrane stiffness and platelet-endothelium interaction in hyperglycemia via SLC3A2 and LAMC1

Author

Gaspar, Renato S., Silva França, Álefe Roger, Oliveira, Percillia Victoria Santos, Silva Diniz-Filho, Joel Félix, Teixeira, Livia, Valadão, Iuri Cordeiro, Debbas, Victor, Costa dos Santos, Clenilton, Massafera, Mariana Pereira, Bustos, Silvina Odete, Rebelo Alencar, Luciana Magalhães, Ronsein, Graziella Eliza, and Laurindo, Francisco R.M.

Published
2024
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187. The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones

Author

Acosta, Maria T., Adams, David R., Afzali, Ben, Al-Beshri, Ali, Allworth, Aimee, Alvarez, Raquel L., Alvey, Justin, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Borja, Nicholas, Botto, Lorenzo, Briere, Lauren C., Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Callaway, Kaitlin, Carey, John, Carvalho, George, Cassini, Thomas, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Corner, Brian, Corona, Rosario I., Craigen, William J., Crouse, Andrew B., Cuddapah, Vishnu, Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Delgado, Margaret, Dell’Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Douglas, Jessica, Douine, Emilie D., Earl, Dawn, Emrick, Lisa T., Eng, Christine M., Ezell, Kimberly, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Fu, Jiayu, Gahl, William A., Ganetzky, Rebecca, Glanton, Emily, Glass, Ian, Goddard, Page C., Gonzalez, Joanna M., Gropman, Andrea, Halley, Meghan C., Hamid, Rizwan, Hanchard, Neal, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yan, Hurst, Anna, Introne, Wendy, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Marie, Orpa Jean, Jobanputra, Vaidehi, Kaitryn, Emerald, Kanca, Oguz, Karasozen, Yigit, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korf, Bruce, Korrick, Susan, Krakow, Deborah, Kravets, Elijah, Lalani, Seema R., Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Latchman, Kumarie, LeBlanc, Kimberly, Lee, Brendan H., Lewis, Richard A., Liu, Pengfei, Longo, Nicola, Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, Audrey Stephannie, Mahoney, Rachel, Malicdan, May Christine V., Mao, Rong, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McConkie-Rosell, Allyn, McCray, Alexa T., Might, Matthew, Mikati, Mohamad, Miller, Danny, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Morimoto, Marie, Mulvihill, John J., Nakano-Okuno, Mariko, Nelson, Stanley F., Neumann, Serena, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Parker, Neil H., Peart, LéShon, Petcharet, Leoyklang, Phillips, John A., III, Posey, Jennifer E., Potocki, Lorraine, Pusey Swerdzewski, Barbara N., Quinlan, Aaron, Rajagopalan, Ramakrishnan, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Rebelo, Adriana, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rodriguez, Martin, Rosenfeld, Jill A., Rosenthal, Elizabeth, Rossignol, Francis, Ruzhnikov, Maura, Sabaii, Marla, Sampson, Jacinda B., Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Seto, Elaine, Shashi, Vandana, Shelkowitz, Emily, Sheppeard, Sam, Shin, Jimann, Silverman, Edwin K., Sisco, Kathy, Skelton, Tammi, Skraban, Cara, Smith, Carson A., Smith, Kevin S., Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stergachis, Andrew, Stoler, Joan M., Sullivan, Kathleen, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Tarakad, Arjun, Taylor, Herman, Tekin, Mustafa, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Walley, Nicole M., Wambach, Jennifer, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Wood, Heidi, Worley, Kim, Yamamoto, Shinya, Zhang, Zhe, Zuchner, Stephan, Findley, Laura, Ni, Weihong, Sinsheimer, Janet S., Cole, F. Session, Esteves, Cecilia, Newman, John H., and Mokry, Jill R.

Published
2024
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191. Clinical and neuroradiological spectrum of biallelic variants in NOTCH3

Author

Iruzubieta, Pablo, Alves, César Augusto Pinheiro Ferreira, Al Shamsi, Aisha M., ElGhazali, Gehad, Zaki, Maha S., Pinelli, Lorenzo, Lopergolo, Diego, Cho, Bernard P.H., Jolly, Amy A., Al Futaisi, Amna, Al-Amrani, Fatema, Galli, Jessica, Fazzi, Elisa, Vulin, Katarina, Barajas-Olmos, Francisco, Hengel, Holger, Aljamal, Bayan Mohammed, Nasr, Vahideh, Assarzadegan, Farhad, Ragno, Michele, Trojano, Luigi, Ojeda, Naomi Meave, Çakar, Arman, Bianchi, Silvia, Pescini, Francesca, Poggesi, Anna, Al Tenalji, Amal, Aziz, Majid, Mohammad, Rahema, Chedrawi, Aziza, De Stefano, Nicola, Zifarelli, Giovanni, Schöls, Ludger, Haack, Tobias B., Rebelo, Adriana, Zuchner, Stephan, Koc, Filiz, Griffiths, Lyn R., Orozco, Lorena, Helmes, Karla García, Babaei, Meisam, Bauer, Peter, Chan Jeong, Won, Karimiani, Ehsan Ghayoor, Schmidts, Miriam, Gleeson, Joseph G., Chung, Wendy K., Alkuraya, Fowzan Sami, Shalbafan, Bita, Markus, Hugh S., Houlden, Henry, and Maroofian, Reza

Published
2024
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194. Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities

Author

Bacino, Carlos A., Balasubramanyam, Ashok, Burrage, Lindsay C., Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Craigen, William J., Dai, Hongzheng, Emrick, Lisa T., Ketkar, Shamika, Lalani, Seema R., Lee, Brendan H., Lewis, Richard A., Marom, Ronit, Orengo, James P., Posey, Jennifer E., Potocki, Lorraine, Rosenfeld, Jill A., Seto, Elaine, Scott, Daryl A., Tarakad, Arjun, Tran, Alyssa A., Vogel, Tiphanie P., Hubshman, Monika Weisz, Worley, Kim, Bellen, Hugo J., Wangler, Michael F., Yamamoto, Shinya, Kanca, Oguz, Eng, Christine M., Liu, Pengfei, Ward, Patricia A., Behrens, Edward, Falk, Marni, Hassey, Kelly, Izumi, Kosuke, Kilich, Gonench, Sullivan, Kathleen, Vanderver, Adeline, Zhang, Zhe, Raper, Anna, Jobanputra, Vaidehi, Mikati, Mohamad, McConkie-Rosell, Allyn, Schoch, Kelly, Shashi, Vandana, Spillmann, Rebecca C., Tan, Queenie K.-G., Walley, Nicole M., Beggs, Alan H., Berry, Gerard T., Briere, Lauren C., Cobban, Laurel A., Coggins, Matthew, Fieg, Elizabeth L., High, Frances, Holm, Ingrid A., Korrick, Susan, Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Pallais, J. Carl, Rao, Deepak A., Rodan, Lance H., Silverman, Edwin K., Stoler, Joan M., Sweetser, David A., Walker, Melissa, Douglas, Jessica, Glanton, Emily, Kobren, Shilpa N., Kohane, Isaac S., LeBlanc, Kimberly, Maghiro, Audrey Stephannie C., Mahoney, Rachel, McCray, Alexa T., Tan, Amelia L.M., Dasari, Surendra, Lanpher, Brendan C., Lanza, Ian R., Morava, Eva, Oglesbee, Devin, Bademci, Guney, Barbouth, Deborah, Bivona, Stephanie, Borja, Nicholas, Gonzalez, Joanna M., Latchman, Kumarie, Peart, LéShon, Rebelo, Adriana, Smith, Carson A., Tekin, Mustafa, Thorson, Willa, Zuchner, Stephan, Taylor, Herman, Colley, Heather A., Dayal, Jyoti G., Doss, Argenia L., Eckstein, David J., Hutchison, Sarah, Krasnewich, Donna M., Mamounas, Laura A., Manolio, Teri A., Urv, Tiina K., Acosta, Maria T., D'Souza, Precilla, Gropman, Andrea, Macnamara, Ellen F., Maduro, Valerie V., Mulvihill, John J., Novacic, Donna, Pusey Swerdzewski, Barbara N., Toro, Camilo, Wahl, Colleen E., Adams, David R., Afzali, Ben, Burke, Elizabeth A., Davis, Joie, Delgado, Margaret, Fu, Jiayu, Gahl, William A., Hanchard, Neil, Huang, Yan, Introne, Wendy, Jean-Marie, Orpa, Malicdan, May Christine V., Morimoto, Marie, Petcharet, Leoyklang, Rossignol, Francis, Sabaii, Marla, Solomon, Ben, Tifft, Cynthia J., Wolfe, Lynne A., Wood, Heidi, Allworth, Aimee, Bamshad, Michael, Beck, Anita, Bennett, Jimmy, Blue, Elizabeth, Byers, Peter, Chanprasert, Sirisak, Cunningham, Michael, Dipple, Katrina, Doherty, Daniel, Earl, Dawn, Glass, Ian, Hing, Anne, Hisama, Fuki M., Horike-Pyne, Martha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Kaitryn, Emerald, Lam, Christina, Miller, Danny, Mirzaa, Ghayda, Raskind, Wendy, Rosenthal, Elizabeth, Shelkowitz, Emily, Sheppeard, Sam, Stergachis, Andrew, Sybert, Virginia, Wener, Mark, Wenger, Tara, Alvarez, Raquel L., Bejerano, Gill, Bernstein, Jonathan A., Bonner, Devon, Coakley, Terra R., Fisher, Paul G., Goddard, Page C., Halley, Meghan C., Hom, Jason, Kohler, Jennefer N., Kravets, Elijah, Martin, Beth A., Marwaha, Shruti, Reuter, Chloe M., Ruzhnikov, Maura, Sampson, Jacinda B., Smith, Kevin S., Sutton, Shirley, Tabor, Holly K., Ungar, Rachel A., Wheeler, Matthew T., Ashley, Euan A., Byrd, William E., Crouse, Andrew B., Might, Matthew, Nakano-Okuno, Mariko, Whitlock, Jordan, Butte, Manish J., Corona, Rosario, Dell'Angelica, Esteban C., Dorrani, Naghmeh, Douine, Emilie D., Fogel, Brent L., Huang, Alden, Krakow, Deborah, Loo, Sandra K., Martin, Martin G., Martínez-Agosto, Julian A., McGee, Elisabeth, Nelson, Stanley F., Nieves-Rodriguez, Shirley, Papp, Jeanette C., Parker, Neil H., Renteria, Genecee, Sinsheimer, Janet S., Wan, Jijun, Alvey, Justin, Andrews, Ashley, Bale, Jim, Bohnsack, John, Botto, Lorenzo, Carey, John, Longo, Nicola, Moretti, Paolo, Pace, Laura, Quinlan, Aaron, Velinder, Matt, Viskochil, Dave, Marth, Gabor, Bayrak-Toydemir, Pinar, Mao, Rong, Westerfield, Monte, Bican, Anna, Cassini, Thomas, Corner, Brian, Hamid, Rizwan, Neumann, Serena, Phillips, John A., III, Rives, Lynette, Robertson, Amy K., Ezell, Kimberly, Cogan, Joy D., Hayes, Nichole, Kiley, Dana, Sisco, Kathy, Wambach, Jennifer, Wegner, Daniel, Baldridge, Dustin, Cole, F. Sessions, Pak, Stephen, Schedl, Timothy, Shin, Jimann, Solnica-Krezel, Lilianna, Moulton, Matthew J., Atala, Kristhen, Zheng, Yiming, Dutta, Debdeep, Grange, Dorothy K., Lin, Wen-Wen, Wegner, Daniel J., Wambach, Jennifer A., Duker, Angela L., Bober, Michael B., Kratz, Lisa, Wise, Carol A., Oxendine, Ila, Khanshour, Anas, and Rios, Jonathan

Published
2024
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199. In vitro and in silico effect of meldrum's acid-derived compounds on Staphylococcus aureus strains as NorA efflux pump inhibitors

Author

Araújo, Isaac Moura, Pereira, Raimundo Luiz Silva, de Araújo, Ana Carolina Justino, Gonçalves, Sheila Alves, Tintino, Saulo Relison, de Morais Oliveira-Tintino, Cícera Datiane, de Menezes, Irwin Rose Alencar, Salamoni, Renata, Begnini, Iêda Maria, Rebelo, Ricardo Andrade, da Silva, Luiz Everson, Domiciano, Carolina Bandeira, and Coutinho, Henrique Douglas Melo

Published
2025
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