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4. Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus.

Author

Sy, Mary, Chauhan, Jaynee, Prescott, Katrina, Imam, Aliza, Kraus, Alison, Beleza, Ana, Salkeld, Lee, Hosdurga, Saraswati, Parker, Michael, Vasudevan, Pradeep, Islam, Lily, Goel, Himanshu, Bain, Nicole, Park, Soo-Mi, Mohammed, Shehla, Dieterich, Klaus, Coutton, Charles, Satre, Véronique, Vieville, Gaëlle, Donaldson, Alan, Beneteau, Claire, Ghoumid, Jamal, Van Den Bogaert, Kris, Boogaerts, Anneleen, Boudry, Elise, Vanlerberghe, Clémence, Petit, Florence, Bernardini, Laura, Torres, Barbara, Mattina, Teresa, Carli, Diana, Mandrile, Giorgia, Pinelli, Michele, Brunetti-Pierri, Nicola, Neas, Katherine, Beddow, Rachel, Tørring, Pernille, Faletra, Flavio, Spedicati, Beatrice, Gasparini, Paolo, Mussa, Alessandro, Ferrero, Giovanni, Lampe, Anne, Lam, Wayne, Bi, Weimin, Bacino, Carlos, Kuwahara, Akela, Zhao, Xiaonan, Luna, Pamela, Shaw, Chad, Rosenfeld, Jill, Scott, Daryl, and Bush, Jeffrey

Subjects
Fanconi anemia, NRXN1, TCF4, esophageal atresia, exome sequencing, tracheoesophageal fistula, Humans, Tracheoesophageal Fistula, Esophageal Atresia, Exome, Exome Sequencing
Abstract

Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a life-threatening birth defect that often occurs with other major birth defects (EA/TEF+). Despite advances in genetic testing, a molecular diagnosis can only be made in a minority of EA/TEF+ cases. Here, we analyzed clinical exome sequencing data and data from the DECIPHER database to determine the efficacy of exome sequencing in cases of EA/TEF+ and to identify phenotypic expansions involving EA/TEF. Among 67 individuals with EA/TEF+ referred for clinical exome sequencing, a definitive or probable diagnosis was made in 11 cases for an efficacy rate of 16% (11/67). This efficacy rate is significantly lower than that reported for other major birth defects, suggesting that polygenic, multifactorial, epigenetic, and/or environmental factors may play a particularly important role in EA/TEF pathogenesis. Our cohort included individuals with pathogenic or likely pathogenic variants that affect TCF4 and its downstream target NRXN1, and FANCA, FANCB, and FANCC, which are associated with Fanconi anemia. These cases, previously published case reports, and comparisons to other EA/TEF genes made using a machine learning algorithm, provide evidence in support of a potential pathogenic role for these genes in the development of EA/TEF.

Published
2022

7. Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Author

Mannucci, Ilaria, Dang, Nghi DP, Huber, Hannes, Murry, Jaclyn B, Abramson, Jeff, Althoff, Thorsten, Banka, Siddharth, Baynam, Gareth, Bearden, David, Beleza-Meireles, Ana, Benke, Paul J, Berland, Siren, Bierhals, Tatjana, Bilan, Frederic, Bindoff, Laurence A, Braathen, Geir Julius, Busk, Øyvind L, Chenbhanich, Jirat, Denecke, Jonas, Escobar, Luis F, Estes, Caroline, Fleischer, Julie, Groepper, Daniel, Haaxma, Charlotte A, Hempel, Maja, Holler-Managan, Yolanda, Houge, Gunnar, Jackson, Adam, Kellogg, Laura, Keren, Boris, Kiraly-Borri, Catherine, Kraus, Cornelia, Kubisch, Christian, Le Guyader, Gwenael, Ljungblad, Ulf W, Brenman, Leslie Manace, Martinez-Agosto, Julian A, Might, Matthew, Miller, David T, Minks, Kelly Q, Moghaddam, Billur, Nava, Caroline, Nelson, Stanley F, Parant, John M, Prescott, Trine, Rajabi, Farrah, Randrianaivo, Hanitra, Reiter, Simone F, Schuurs-Hoeijmakers, Janneke, Shieh, Perry B, Slavotinek, Anne, Smithson, Sarah, Stegmann, Alexander PA, Tomczak, Kinga, Tveten, Kristian, Wang, Jun, Whitlock, Jordan H, Zweier, Christiane, McWalter, Kirsty, Juusola, Jane, Quintero-Rivera, Fabiola, Fischer, Utz, Yeo, Nan Cher, Kreienkamp, Hans-Jürgen, and Lessel, Davor

Subjects
Biological Sciences, Genetics, Pediatric, Clinical Research, Mental Health, Prevention, Aetiology, 4.1 Discovery and preclinical testing of markers and technologies, 2.1 Biological and endogenous factors, Detection, screening and diagnosis, Animals, Biomarkers, Gene Expression, Gene Knockdown Techniques, Genetic Association Studies, Genetic Predisposition to Disease, Germ-Line Mutation, HEK293 Cells, Humans, Immunohistochemistry, Mutation, Neurodevelopmental Disorders, Phenotype, RNA Helicases, Zebrafish, Clinical Sciences
Abstract

BackgroundWe aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder.MethodsClinical and genetic data from affected individuals were collected through Facebook-based family support group, GeneMatcher, and our network of collaborators. We investigated the impact of novel missense variants with respect to ATPase and helicase activity, stress granule (SG) formation, global translation, and their effect on embryonic development in zebrafish. SG formation was additionally analyzed in CRISPR/Cas9-mediated DHX30-deficient HEK293T and zebrafish models, along with in vivo behavioral assays.ResultsWe identified 25 previously unreported individuals, ten of whom carry novel variants, two of which are recurrent, and provide evidence of gonadal mosaicism in one family. All 19 individuals harboring heterozygous missense variants within helicase core motifs (HCMs) have global developmental delay, intellectual disability, severe speech impairment, and gait abnormalities. These variants impair the ATPase and helicase activity of DHX30, trigger SG formation, interfere with global translation, and cause developmental defects in a zebrafish model. Notably, 4 individuals harboring heterozygous variants resulting either in haploinsufficiency or truncated proteins presented with a milder clinical course, similar to an individual harboring a de novo mosaic HCM missense variant. Functionally, we established DHX30 as an ATP-dependent RNA helicase and as an evolutionary conserved factor in SG assembly. Based on the clinical course, the variant location, and type we establish two distinct clinical subtypes. DHX30 loss-of-function variants cause a milder phenotype whereas a severe phenotype is caused by HCM missense variants that, in addition to the loss of ATPase and helicase activity, lead to a detrimental gain-of-function with respect to SG formation. Behavioral characterization of dhx30-deficient zebrafish revealed altered sleep-wake activity and social interaction, partially resembling the human phenotype.ConclusionsOur study highlights the usefulness of social media to define novel Mendelian disorders and exemplifies how functional analyses accompanied by clinical and genetic findings can define clinically distinct subtypes for ultra-rare disorders. Such approaches require close interdisciplinary collaboration between families/legal representatives of the affected individuals, clinicians, molecular genetics diagnostic laboratories, and research laboratories.

Published
2021

12. High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses

Author

Hammarsjö, Anna, Pettersson, Maria, Chitayat, David, Handa, Atsuhiko, Anderlid, Britt-Marie, Bartocci, Marco, Basel, Donald, Batkovskyte, Dominyka, Beleza-Meireles, Ana, Conner, Peter, Eisfeldt, Jesper, Girisha, Katta M., Chung, Brian Hon-Yin, Horemuzova, Eva, Hyodo, Hironobu, Korņejeva, Liene, Lagerstedt-Robinson, Kristina, Lin, Angela E., Magnusson, Måns, Moosa, Shahida, Nayak, Shalini S., Nilsson, Daniel, Ohashi, Hirofumi, Ohashi-Fukuda, Naoko, Stranneheim, Henrik, Taylan, Fulya, Traberg, Rasa, Voss, Ulrika, Wirta, Valtteri, Nordgren, Ann, Nishimura, Gen, Lindstrand, Anna, and Grigelioniene, Giedre

Published
2021
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13. Morpho-Anatomical and Molecular Characterization of the Oversprouting Symptoms Caused by Fusarium decemcellulare in Guarana Plants (Paullinia cupana var. sorbilis)

Author

de Queiroz, Claudia Afras, da Silva Matos, Kedma, Lobo, Igor Kelvyn Cavalcante, de Sousa, Sandra Barbosa, Muniz, Celli Rodrigues, Beleza Yamagishi, Michel E., Zocolo, Guilherme Julião, Hanada, Rogério Eiji, Gasparotto, Luadir, Sousa, Nelcimar Reis, de Andrade, Edmar Vaz, Cordeiro, Isabelle Bezerra, Melo, Anderson Adriano Martins, and da Silva, Gilvan Ferreira

Published
2020
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15. Expanding the Grammar of Biology

Author

Yamagishi, Michel Eduardo Beleza and Herai, Roberto Hirochi

Subjects
Quantitative Biology - Genomics
Abstract

We metaphorically call "Grammar of Biology" a small field of genomic research, whose main objective is to search for intrinsic DNA sequence properties. Erwin Chargaff inaugurated it back in 50s, but since then little progress has been made. It remained almost neglected until early 90s, when Vinayakumar V. Prabhu made a major contribution determining the Symmetry Principle. Remarkably, different sciences have contributed for its development, for instance, Chargaff used his Chemistry background to discover the so-called Chargaff's rules; taking advantage of several publicly available genomic sequences, and through Computational and Statistical analyses, Prabhu identified the Symmetry Principle and, recently, using a Mathematical approach, we have discovered four new Generalized Chargaff's rules. Our work has expanded the "Grammar of Biology", and created the conceptual and theoretical framework necessary to further developments., Comment: 9 pages, 1 figure

Published
2013
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18. Osteocyte transcriptome mapping identifies a molecular landscape controlling skeletal homeostasis and susceptibility to skeletal disease

Author

Youlten, Scott E., Kemp, John P., Logan, John G., Ghirardello, Elena J., Sergio, Claudio M., Dack, Michael R. G., Guilfoyle, Siobhan E., Leitch, Victoria D., Butterfield, Natalie C., Komla-Ebri, Davide, Chai, Ryan C., Corr, Alexander P., Smith, James T., Mohanty, Sindhu T., Morris, John A., McDonald, Michelle M., Quinn, Julian M. W., McGlade, Amelia R., Bartonicek, Nenad, Jansson, Matt, Hatzikotoulas, Konstantinos, Irving, Melita D., Beleza-Meireles, Ana, Rivadeneira, Fernando, Duncan, Emma, Richards, J. Brent, Adams, David J., Lelliott, Christopher J., Brink, Robert, Phan, Tri Giang, Eisman, John A., Evans, David M., Zeggini, Eleftheria, Baldock, Paul A., Bassett, J. H. Duncan, Williams, Graham R., and Croucher, Peter I.

Published
2021
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19. Does Dyadic Practice Interfere with the Type of Motor Learning Promoted by Analogy Instructions?

Author

Profeta, Vitor L. S., Beleza, Flávia N. R., and Louredo, Christian A. G.

Abstract

We investigated whether allowing individuals to exchange verbal information during dyadic practice changed the effect of analogy instructions intended to strengthen explicit motor learning by an implicit means. Forty-three right-handed college students performed golf putting, aiming at a target three meters away. Participants were assigned to one of two groups: Dyadic Practice Analogy Instruction or Individual Practice Analogy Instruction. Participants in the Dyadic Practice group were allowed to communicate with one another about the task during their practice. Before practice, participants performed a working memory capacity test. Both groups performed 180 trials of golf distributed across three days. On each day, there were four blocks of 15 trials. On the third day, participants reported the explicit rules they used to learn the task and they completed the Intrinsic Motivation Inventory. On the fourth day, they took three learning tests: retention, dual-task transfer, and social pressure transfer tests. Results of the retention test indicated that both groups learned the task comparably. Similarly, there were no significant group differences between the participants’ number of explicit rules learned and their motivation levels on either of the transfer tests. Finally, only the participants in the Dyadic Practice Analogy Group showed a significant correlation between their performance on the dual-task transfer test and their working memory capacity. Overall, we found that dyadic practice did not interfere with the implicit type of motor learning promoted by analogy instruction (i.e., implicit learning).

Published
2024
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20. BAK1 Gene Variation: the doubts remain

Author

Yamagishi, Michel E. Beleza

Subjects
Quantitative Biology - Genomics, Quantitative Biology - Tissues and Organs
Abstract

Dr. Hatchwell [2010] has proposed that the BAK1 gene variants were likely due to sequencing of a processed gene on chromosome 20. However, in response, Dr. Gottlieb and co-authors [2010] have argued that "some but not all of the sequence changes present in the BAK1 sequence of our abdominal aorta samples are also present in the chromosome 20 BAK1 sequence. However, all the AAA and AA cDNA samples are identical to each other and different from chromosome 20 BAK1 sequence at amino acids 2 and 145". I have been following this discussion because I have independently reached almost the same conclusion as Dr. Hatchwell did [Yamagishi, 2009], and, unfortunately, the response from Dr. Gottlieb and his co-authors seems to me to be unsatisfactory for the reasons listed below, Comment: 6 pages

Published
2010

21. A Simpler Explanation to BAK1 Gene Variation in Aortic and Blood Tissues

Author

Yamagishi, Michel Eduardo Beleza

Subjects
Quantitative Biology - Genomics, Quantitative Biology - Tissues and Organs
Abstract

The explanation is that in aortic tissue (both diseased and nondiseased) a BAK1 pseudogene is expressed; while in the matching blood samples the actual BAK1 gene is expressed. This explanation was reached after we realized that BAK1 has two edited copies in human genome. These copies are probably BAK1 pseudogenes. One copy belongs to chromosome 11 (NG_005599.3) and the other to chromosome 20 (NC_000850.5). The first copy has frameshifts which means that probably it does not express any functional protein; by other hand, the chromosome 20 copy has no frameshifts and what is more important contains all the reported polymorphisms., Comment: 2 pages

Published
2009

22. Nucleotide Frequencies in Human Genome and Fibonacci Numbers

Author

Yamagishi, Michel E. Beleza and Shimabukuro, Alex Itiro

Subjects
Quantitative Biology - Other Quantitative Biology
Abstract

This work presents a mathematical model that establishes an interesting connection between nucleotide frequencies in human single-stranded DNA and the famous Fibonacci's numbers. The model relies on two assumptions. First, Chargaff's second parity rule should be valid, and, second, the nucleotide frequencies should approach limit values when the number of bases is sufficiently large. Under these two hypotheses, it is possible to predict the human nucleotide frequencies with accuracy. It is noteworthy, that the predicted values are solutions of an optimization problem, which is commonplace in many nature's phenomena., Comment: 12 pages, 2 figures

Published
2006
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24. Variants of the elongator protein 3 ( ELP3 ) gene are associated with motor neuron degeneration

Author

Simpson, Claire L, Lemmens, Robin, Miskiewicz, Katarzyna, Broom, Wendy J, Hansen, Valerie K, van Vught, Paul WJ, Landers, John E, Sapp, Peter, Van Den Bosch, Ludo, Knight, Joanne, Neale, Benjamin M, Turner, Martin R, Veldink, Jan H, Ophoff, Roel A, Tripathi, Vineeta B, Beleza, Ana, Shah, Meera N, Proitsi, Petroula, Van Hoecke, Annelies, Carmeliet, Peter, Horvitz, H Robert, Leigh, P Nigel, Shaw, Christopher E, van den Berg, Leonard H, Sham, Pak C, Powell, John F, Verstreken, Patrik, Brown, Robert H, Robberecht, Wim, and Al-Chalabi, Ammar

Subjects
Rare Diseases, Genetics, Neurodegenerative, Biotechnology, Brain Disorders, Neurosciences, ALS, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adult, Aged, Aged, 80 and over, Amyotrophic Lateral Sclerosis, Animals, Drosophila, Female, Genetic Predisposition to Disease, Genetic Variation, Histone Acetyltransferases, Humans, Male, Mice, Mice, Transgenic, Middle Aged, Motor Neurons, Mutation, Nerve Tissue Proteins, White People, Zebrafish, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

Amyotrophic lateral sclerosis (ALS) is a spontaneous, relentlessly progressive motor neuron disease, usually resulting in death from respiratory failure within 3 years. Variation in the genes SOD1 and TARDBP accounts for a small percentage of cases, and other genes have shown association in both candidate gene and genome-wide studies, but the genetic causes remain largely unknown. We have performed two independent parallel studies, both implicating the RNA polymerase II component, ELP3, in axonal biology and neuronal degeneration. In the first, an association study of 1884 microsatellite markers, allelic variants of ELP3 were associated with ALS in three human populations comprising 1483 people (P=1.96 x 10(-9)). In the second, an independent mutagenesis screen in Drosophila for genes important in neuronal communication and survival identified two different loss of function mutations, both in ELP3 (R475K and R456K). Furthermore, knock down of ELP3 protein levels using antisense morpholinos in zebrafish embryos resulted in dose-dependent motor axonal abnormalities [Pearson correlation: -0.49, P=1.83 x 10(-12) (start codon morpholino) and -0.46, P=4.05 x 10(-9) (splice-site morpholino), and in humans, risk-associated ELP3 genotypes correlated with reduced brain ELP3 expression (P=0.01). These findings add to the growing body of evidence implicating the RNA processing pathway in neurodegeneration and suggest a critical role for ELP3 in neuron biology and of ELP3 variants in ALS.

Published
2009

25. Mário Domingues, Race, and the Black Modernist Novel in Portugal (O preto do Charleston [1929])

Author

Beleza, Fernando

Abstract

Abstract:This article explores the novel O preto do Charleston (1929), by the Black Portuguese writer, journalist, anarchist, and anti-racist/anti-colonial activist Mário Domingues (1899–1977), considered against the backdrop of the racial regimes of Portuguese modernism and the transnational currents of the Black Atlantic. It argues that Domingues's political thought and the cultural influences of the Black Atlantic, along with his place as a Black intellectual and artist in early twentieth-century Lisbon, shaped his literary production, whilst the exploration of modernist literary themes and aesthetics in his novel offered the Príncipe-born writer new and original ways of addressing his anti-racist, anti-colonial, and anarchist ideas. More precisely, I propose that, in O preto do Charleston, Domingues challenged Fernando Pessoa's (1888–1935) narrative of aesthetic and national renewal with a Black modernist critique of modernity and its racial hierarchies, claiming a place for his literary production in the context of both Portuguese modernism and the modernisms of the Black Atlantic.Resumo:Este artigo explora a novela O preto do Charleston (1929), do escritor, jornalista, anarquista e activista antirracista/anticolonial português Mário Domingues (1899–1977), considerada no contexto dos regimes raciais do modernismo português e das correntes transnacionais do Atlântico Negro. Argumento que o pensamento político de Domingues e as influências culturais do Atlântico Negro, juntamente com o seu lugar enquanto intelectual e artista negro no início do século XX lisboeta, moldaram a sua produção literária, enquanto o recurso a temas literários e opções estéticas modernistas ofereceram ao escritor nascido na Ilha do Príncipe formas novas e originais de tratamento das suas ideias antirracistas, anticoloniais e anarquistas. Mais precisamente, proponho que, em O preto do Charleston, Domingues desafiou a narrativa de renovação estética e nacional de Fernando Pessoa (1888–1935) através de uma crítica modernista Negra da modernidade e das suas hierarquias raciais, afirmando um lugar para a sua produção literária simultaneamente no contexto do modernismo português e dos modernismos do Atlântico Negro.

Published
2024

28. Not Just a Latino Issue: Undocumented Students in Higher Education

Author

Chan, Beleza

Abstract

Picture an undocumented student, and for most college counselors, it will be the image of a Latino student. However, the reality is that students from many other ethnic groups lack documentation as well. These students hail from everywhere. According to DreamActivist.org, an online resource network for undocumented students, they come from places such as Argentina, Bangladesh, Brazil, Canada, Chile, Colombia, Costa Rica, Croatia, Ecuador, England, Fiji, France, Ghana, Guatemala, Hungary, Indonesia, Iran, Israel, Lebanon, Mexico, Mongolia, Nicaragua, Nigeria, Pakistan, Peru, Philippines, Senegal, South Korea, Taiwan, Tonga, and Venezuela. According to one of DreamActivist's founders, Prerna, the network has "black dreamies, brown dreamies, yellow dreamies, white dreamies--a rainbow full of dreamies." "Dreamies" refers to students who would benefit from the DREAM Act, a piece of legislation that would provide a path to citizenship for undocumented students who were brought to the US as minors. In this article, the author presents stories of five undocumented students and emphasizes the significant role of counselors in reaching out to this population by making information readily available and maintaining an environment of open dialogue, where no students feel judged.

Published
2010

31. Meta-analysis of GWA studies provides new insights on the genetic architecture of skin pigmentation in recently admixed populations

Author

Lona-Durazo, Frida, Hernandez-Pacheco, Natalia, Fan, Shaohua, Zhang, Tongwu, Choi, Jiyeon, Kovacs, Michael A., Loftus, Stacie K., Le, Phuong, Edwards, Melissa, Fortes-Lima, Cesar A., Eng, Celeste, Huntsman, Scott, Hu, Donglei, Gómez-Cabezas, Enrique Javier, Marín-Padrón, Lilia Caridad, Grauholm, Jonas, Mors, Ole, Burchard, Esteban G., Norton, Heather L., Pavan, William J., Brown, Kevin M., Tishkoff, Sarah, Pino-Yanes, Maria, Beleza, Sandra, Marcheco-Teruel, Beatriz, and Parra, Esteban J.

Published
2019
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36. Mordeduras humanas ocupacionais: meras agressões ou acidentes de trabalho com risco biológico?

Author

Botelho Rodrigues, G., Pacheco, V., Beleza, M., Silva, L., Leitão, C., Rodrigues, T. J., Baptista-Silva, R., Afonso, A., and Antunes, I.

Abstract

Copyright of RPDI - Revista Portuguesa de Doenças Infecciosas is the property of Sociedade Portuguesa de Doencas Infecciosas e Microbiologia Clinica 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.)

Published
2023

39. Risk factors associated with burnout syndrome in nursing teachers.

Author

da Silva, IdnaGlenda, Beleza Lino, Maísa Ravenna, de Sousa, Gleciane Costa, da Silva Lemos, Matheus Henrique, Guedes Dias, Vanessa de Jesus, and Souza, Yasmim da Silva

Subjects
PSYCHOLOGICAL burnout, RESEARCH, WORK environment, RESEARCH methodology, JOB stress, RISK assessment, QUALITATIVE research, PHENOMENOLOGY, PSYCHOSOCIAL factors, QUESTIONNAIRES, EMPLOYEES' workload, NURSING school faculty
Abstract

Copyright of Saúde Coletiva is the property of MPM Comunicacao 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.)

Published
2022
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45. Cross-cultural adaptation and psychometric evaluation of the Brazilian Portuguese version of the Vulvovaginal Symptoms Questionnaire

Author

Alem, Michele Elisabete Rúbio, Chaves, Thais Cristina, de Figueiredo, Vilena Barros, Beleza, Ana Carolina Sartorato, Ferreira, Cristine Homsi Jorge, da Silva, Jordana Barbosa, and Driusso, Patricia

Abstract

Vulvovaginal symptoms are common and challenging problems that can occur because of several factors, and the use of validated questionnaires is a way to evaluate both symptoms and their impact on quality of life. The Vulvovaginal Symptoms Questionnaire–Brazilian Portuguese is a valid tool to assess vulvovaginal symptoms and can be used in the daily practice of health care professionals in Brazil.

Published
2022
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47. Whole-genome analysis uncovers loss of blaZassociated with carriage isolates belonging to methicillin-resistant Staphylococcus aureus(MRSA) clone ST5-VI in Cape Verde

Author

Wysocka, Magdalena, Monteiro, Tamar, de Pina, Carine, Gonçalves, Deisy, de Pina, Sandrine, Ludgero-Correia, Antonio, Moreno, Joao, Zamudio, Roxana, Almebairik, Nada, Gray, Laura J., Pareek, Manish, Jenkins, David R., Aires-de-Sousa, Marta, De Lencastre, Herminia, Beleza, Sandra, Araujo, Isabel I., Conceição, Teresa, and Oggioni, Marco R.

Abstract

•One of the first whole genome analyses of Staphylococcus aureuscarriage isolates in an African country.•Genome data allowed to place S. aureusisolates from Cape Verde in a phylogenetic context.•Loss of blaZ-carrying plasmids and transposons is not rare, which is also evident in other international MRSA isolates.•Steady increase in antimicrobial drug resistance in Cape Verde.•Data provide genomic information for the design of intervention measures to decrease antimicrobial resistance.

Published
2021
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49. CHARACTERIZATION OF THE HEALTH PROFILE OF ELDERLY REGISTERED PERSONS IN PRIMARY HEALTH CARE.

Author

Peixoto Linard, Lana Lívia, Ferraz Queiroga Freitas, Fabiana, Feitosa Beleza, Cinara Maria, Costa Fernandes, Marcelo, and Soares, Sônia Maria

Abstract

Copyright of Revista de Pesquisa: Cuidado é Fundamental is the property of Revista de Pesquisa: Cuidado e Fundamental Online 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.)

Published
2021
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50. Psychiatric events in epilepsy

Author

Cornaggia, Cesare Maria, Beghi, Massimiliano, Beghi, Ettore, Cornaggia, C. M., Airoldi, L., Beghi, M., Bogliun, G., Brambilla, E., Fiordelli, E., Mascarini, A., Moltrasio, L., Primati, C., Hauser, W. A., Loeber, J. N., De Boer, H., Thorbecke, R., Steuernagel, E., Wolf, P., Sonnen, A. E. H., Severi, S., Zolo, P., Specchio, L. M., Specchio, N., Pasolini, M. P., Antonini, L., Aguglia, U., Russo, C., Gambardella, A., Giubergia, S., Zagnoni, P. G., Cosottini, Mirco, Zaccara, G., Trio, R., Pisani, F., Russo, M., Oteri, G., Cavestro, C. E., Tonini, C., Avanzini, G., Arienti, F., Defanti, C. A., Tartara, A., Manni, R., Castelnuovo, G., Murelli, R., Galimberti, C. A., Zanotta, N., Di Viesti, P., Zarrelli, M., Apollo, F., Runge, U., de Krom, M. C. T. F. M., van Heijden, C., Griet, J., Brown, S. W., Coyle, H., Lopez Lima, J. M., Beleza, P., Ferreira, E., Talvik, T., Beilmann, A., Belousova, E., Levart, T., Zupancic, N., Gromov, S., Lipatova, L. V., Mikhailov, V., Cornaggia, C, Beghi, M, Beghi, E, and Rest, 1

Subjects
Adult, Male, medicine.medical_specialty, Neurology, Adolescent, Referral, Population, Clinical Neurology, Comorbidity, Anxiety, Epilepsy, medicine, Humans, epilepsy, psychiatry, Occupations, Psychiatry, Prospective cohort study, education, Depression (differential diagnoses), education.field_of_study, Depression, business.industry, Mental Disorders, Case-control study, General Medicine, Case-control, medicine.disease, Psychiatric, Case-Control Studies, Female, Follow-Up Studies, Hospitalization, Socioeconomic Factors, Neurology (clinical), MED/25 - PSICHIATRIA, Case–control, business
Abstract

Psychiatric events are thought to be more frequent in people with epileptic seizures than in the general population. However, inter-ictal psychiatric events attributable to epilepsy remain controversial. The aim of the present study was to evaluate the occurrence of psychiatric events in a population of fairly unselected patients with epilepsy and in the general population, and the correlation between psychiatric complaints and selected demographic and disease characteristics. The survey was part of a multicentre prospective cohort study of everyday life risks conducted in eight European countries and comparing referral children and adults with epilepsy referred to secondary/tertiary centers to age- and sex-matched non-epileptic controls. Nine hundred and fifty-one patients with epilepsy and 909 controls were studied. Each patient and his/her control received a diary to record any accident or illness, with severity, circumstances, causes, consequences, and (for the cases) the possible relation to a seizure. The follow-up period ranged between 1 and 2 years. Fifty-eight psychiatric events occurred in 25 patients (2.6%) and 88 in 19 controls (2.1%). Housewives (9.3%) and unemployed persons (4.1%) were mostly affected. No correlation was found between psychiatric events, demographic and disease characteristics. Our results suggest that people with epilepsy if unselected are not at higher risk for psychiatric disorders than the general population. © 2007 British Epilepsy Association.

Published
2007
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