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1.
Hum Genomics ; 17(1): 112, 2023 Dec 14.
Article in English | MEDLINE | ID: mdl-38098073

ABSTRACT

BACKGROUND: Sudden sensorineural hearing loss (SSNHL) is an abrupt loss of hearing, still idiopathic in most of cases. Several mechanisms have been proposed including genetic and epigenetic interrelationships also considering iron homeostasis genes, ferroptosis and cellular stressors such as iron excess and dysfunctional mitochondrial superoxide dismutase activity. RESULTS: We investigated 206 SSNHL patients and 420 healthy controls for the following genetic variants in the iron pathway: SLC40A1 - 8CG (ferroportin; FPN1), HAMP - 582AG (hepcidin; HEPC), HFE C282Y and H63D (homeostatic iron regulator), TF P570S (transferrin) and SOD2 A16V in the mitochondrial superoxide dismutase-2 gene. Among patients, SLC40A1 - 8GG homozygotes were overrepresented (8.25% vs 2.62%; P = 0.0015) as well SOD2 16VV genotype (32.0% vs 24.3%; P = 0.037) accounting for increased SSNHL risk (OR = 3.34; 1.54-7.29 and OR = 1.47; 1.02-2.12, respectively). Moreover, LINE-1 methylation was inversely related (r2 = 0.042; P = 0.001) with hearing loss score assessed as pure tone average (PTA, dB HL), and the trend was maintained after SLC40A1 - 8CG and HAMP - 582AG genotype stratification (ΔSLC40A1 = + 8.99 dB HL and ΔHAMP = - 6.07 dB HL). In multivariate investigations, principal component analysis (PCA) yielded PC1 (PTA, age, LINE-1, HAMP, SLC40A1) and PC2 (sex, HFEC282Y, SOD2, HAMP) among the five generated PCs, and logistic regression analysis ascribed to PC1 an inverse association with moderate/severe/profound HL (OR = 0.60; 0.42-0.86; P = 0.0006) and with severe/profound HL (OR = 0.52; 0.35-0.76; P = 0.001). CONCLUSION: Recognizing genetic and epigenetic biomarkers and their mutual interactions in SSNHL is of great value and can help pharmacy science to design by pharmacogenomic data classical or advanced molecules, such as epidrugs, to target new pathways for a better prognosis and treatment of SSNHL.


Subject(s)
Hearing Loss, Sensorineural , Hearing Loss, Sudden , Humans , DNA Methylation , Iron/metabolism , Iron/therapeutic use , Transferrin/genetics , Transferrin/metabolism , Transferrin/therapeutic use , Hearing Loss, Sensorineural/genetics , Hearing Loss, Sudden/drug therapy , Hearing Loss, Sudden/genetics , Homeostasis/genetics
2.
Front Genet ; 13: 1028081, 2022.
Article in English | MEDLINE | ID: mdl-36531241

ABSTRACT

Background: Development and worldwide availability of safe and effective vaccines against severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) to fight severe symptoms of coronavirus disease 2019 (COVID-19) and block the pandemic have been a great achievement and stimulated researchers on understanding the efficacy and duration of different vaccine types. Methods: We investigated the levels of anti-SARS-CoV-2 antibodies (IgG) and neutralizing antibodies (NAbs) in 195 healthy adult subjects belonging to the staff of the University-Hospital of Ferrara (Italy) starting from 15 days up to 190 days (about 6 months) after the second dose of the BNT162b2 (Pfizer-BioNTech) mRNA-based vaccine (n = 128) or ChAdOx1 (AstraZeneca) adenovirus-based vaccine (n = 67) using a combined approach of serological and genomics investigations. Results: A strong correlation between IgG and NAb levels was detected during the 190 days of follow-up (r 2 = 0.807; p < 0.0001) and was confirmed during the first 90 days (T1) after vaccination (r 2 = 0.789; p = 0.0001) and 91-190 days (T2) after vaccination (r 2 = 0.764; p = 0.0001) for both vaccine types (r 2 = 0.842; p = 0.0001 and r 2 = 0.780; p = 0.0001 for mRNA- and adenovirus-based vaccine, respectively). In addition to age (p < 0.01), sex (p = 0.03), and type of vaccine (p < 0.0001), which partially accounted for the remarkable individual differences observed in the antibody levels and dynamics, interesting genetic determinants appeared as significant modifiers of both IgG and NAb responses among the selected genes investigated (TP53, rs1042522; APOE, rs7412/rs429358; ABO, rs657152; ACE2, rs2285666; HLA-A rs2571381/rs2499; CRP, rs2808635/rs876538; LZTFL1, rs35044562; OAS3, rs10735079; SLC6A20, rs11385942; CFH, rs1061170; and ACE1, ins/del, rs4646994). In detail, regression analysis and mean antibody level comparison yielded appreciable differences after genotype stratification (P1 and P2, respectively, for IgG and NAb distribution) in the whole cohort and/or in the mRNA-based vaccine in the following genes: TP53, rs1042522 (P1 = 0.03; P2 = 0.04); ABO, rs657152 (P1 = 0.01; P2 = 0.03); APOE, rs7412/rs429358 (P1 = 0.0018; P2 = 0.0002); ACE2, rs2285666 (P1 = 0.014; P2 = 0.009); HLA-A, rs2571381/rs2499 (P1 = 0.02; P2 = 0.03); and CRP, rs2808635/rs876538 (P1 = 0.01 and P2 = 0.09). Conclusion: High- or low-responsive subjects can be identified among healthy adult vaccinated subjects after targeted genetic screening. This suggests that favorable genetic backgrounds may support the progression of an effective vaccine-induced immune response, though no definite conclusions can be drawn on the real effectiveness ascribed to a specific vaccine or to the different extent of a genotype-driven humoral response. The interplay between data from the polygenic predictive markers and serological screening stratified by demogeographic information can help to recognize the individual humoral response, accounting for ethnic and geographical differences, in both COVID-19 and anti-SARS-CoV-2 vaccinations.

3.
Saúde debate ; 45(129): 420-434, abr.-jun. 2021.
Article in Portuguese | LILACS-Express | LILACS | ID: biblio-1290159

ABSTRACT

RESUMO Práticas estéticas e corporais têm ocupado um lugar significativo na atenção psicossocial, no contexto da Reforma Psiquiátrica brasileira. Propostas que inventam outras formas de produção de saúde e de subjetividade, associadas à participação social, têm valorizado a diversidade de formas de expressão em saúde mental e a diferença nas formas de existência. Com o intuito de estudar essas práticas e criar um campo de comunicação e produção coletiva de suas singularidades e seu plano comum, um grupo de pesquisadores se reuniu no Programa de Pós-graduação em Psicologia da Universidade Estadual Paulista e desenvolveu pesquisas articuladas ao projeto 'Práticas estéticas e corporais na atenção psicossocial: processos de criação e produção de subjetividade'. Nessas pesquisas, foram exploradas as relações entre arte e saúde mental, a produção das políticas públicas relacionadas ao campo, o desenvolvimento das práticas clínicas, artísticas e culturais e a formulação de conceitos e perspectivas teóricas que sustentem essas práticas. Neste texto, serão apresentadas, brevemente, as políticas públicas de saúde e cultura que foram desenvolvidas no Brasil nos últimos 30 anos, sua articulação intersetorial e algumas experiências práticas nesse campo, que temos desenvolvido e pesquisado.


ABSTRACT Aesthetic and body practices have played a significant role in psychosocial care, in the context of the Brazilian Psychiatric Reform. Proposals that invent other ways of producing health and subjectivity, associated with social participation, have valued the diversity of expression in mental health and the difference in forms of existence. In order to study these practices and create a field of communication and collective production of their singularities and their common plan, a group of researchers met in the Graduate Program in Psychology at Universidade Estadual Paulista, creating the line of research 'Aesthetic and body practices in the psychosocial care: processes of creation and production of subjectivity'. In the inquiries developed, the relations between art and mental health, the production of public policies related to the field, the development of clinical, artistic and cultural practices and the formulation of concepts and theoretical perspectives that support these practices were explored. In this paper, the health and culture public policies that have been developed in Brazil in the last 30 years, their intersectoral articulation and some practical experiences in this field, which we have developed and researched, will be briefly presented.

4.
Cad. Bras. Ter. Ocup ; 28(4): 1234-1250, Oct.-Dec. 2020.
Article in Portuguese | LILACS-Express | LILACS, Index Psi Index Psi Scientific Journals | ID: biblio-1153633

ABSTRACT

Resumo Este artigo é um relato de acompanhamento apresentado na tese "Políticas do encontro e as forças selvagens na clínica infantojuvenil", realizada no Programa de Pós-graduação em Psicologia da UNESP-Assis. Relata uma história composta por questões pertinentes à clínica da atenção psicossocial com crianças e jovens. A composição dessa história acolheu o desafio de desviar da narrativa de histórias únicas, da reprodução de somente um lugar majoritário, com o intuito de dar passagem a novas perspectivas, fazendo aliança com a ideia de minoração deleuziana. Na tese, chamou-se a complexidade de forças, atravessamentos e acontecimentos presentes nas situações dos acompanhamentos clínicos, que dão visibilidade aos diferentes modos de construir aproximação, relação e cuidado, de políticas do encontro. Apresenta-se o acompanhamento de Violeta, uma criança com autismo. Ao longo da escrita, são pinçadas problematizações sobre: o trabalho grupal no CAPSij, a corporeidade das crianças e dos adultos e as estratégias de produção do comum. Tais questionamentos são potencializados pela composição com autores como Deleuze e Guattari, Fernand Deligny, Lapoujade e Lepecki. Concluiu-se que apostar na capacidade dos corpos de entrar em conexão ou acessar um comunismo primordial, ao desafiar o adultocentrismo e a redução da sensibilidade e afetividade corporal, podem ser estratégias disparadas na clínica da infância.


Abstract This paper is an extract from the thesis "Policies of the encounter and the wild forces in child and young people care" held at the Post-Graduate Program in Psychology of UNESP-Assis. It is a narrative of a story presented through issues pertinent to the psychosocial care clinic with children and young people. The composition of this story had the challenge of diverting from the narrative of unique stories, from the reproduction of only a majority place to allow new perspectives. It was named as the complexity of forces, crossings, and events present in the situations of clinical practices, which give visibility to the different ways of building rapprochement, relationship, and care. This text shows the history of Violeta, a child with autism. Throughout the writing, questions about working with groups in the CAPSij, the corporeity of children and adults, and the strategies of production of the common are highlighted. Such questions are strengthened by the composition with authors such as Deleuze and Guattari, Fernand Deligny, Lapoujade, and Lepecki. It was concluded that betting on the bodies' ability to enter into connection or access primordial communism, by challenging adult-centeredness, maybe strategies triggered in the childhood clinic.

5.
Rev. ter. ocup ; 20(3): 199-204, set.-dez. 2009.
Article in Portuguese | LILACS | ID: lil-657233

ABSTRACT

Este artigo relata a experiência do Coral Cênico Cidadãos Cantantes, criado em 1992 como desdobramento das atividades dos Centros de Convivência e Cooperativa da Secretaria de Saúde do Município de São Paulo, com apoio da Associação SOS Saúde Mental, Ecologia e Cultura. O Coral possui uma composição heterogênea, reunindo portadores de sofrimento mental, pessoas em situação de vulnerabilidade e pessoas da população em geral, interessados na construção artística, tendo como local de trabalho as dependências da Galeria Olido da Secretaria Municipal de Cultura de São Paulo. Desde 2006 o Coral estabelece parceria com o Laboratório de Estudos e Pesquisa Arte e Corpo em Terapia Ocupacional. A prática do Coral recupera o sentido da arte como um atributo humano capaz de transformar atitudes, lugares de saber, lugares de existência e, por conseqüência, capaz de alterar a qualidade de vida. A ferramenta de trabalho dos Cidadãos Cantantes é a promoção de encontros nos quais se possa cantar buscando a harmonização das dissonâncias para afinar diferenças e sustentando uma experimentação na interface entre canto coral, arte e saúde na contemporaneidade. A prática musical em grupos que apresentam esse perfil mostra-se, não só possível, como instigadora, para se pensar novas possibilidades para o canto coral, além de propor novos agenciamentos relacionais e territoriais.


This article presents the experience of the Theatrical Choral Singing Citizens, created in 1992 as an extension of the activities developed at the Convivence and Cooperative Centers of the Health Secretary of São Paulo, and supported by the NGO "SOS Mental Health, Ecology and Culture". The Choral is a heterogeneous group formed by interest on artistic construction, which gather people suffering from mental illness, people in vulnerability, and others from general population, having been established as a workplace Galeria Olido, in São Paulo. From 2006, the Choral has worked in a partnership with the Laboratory of Studies and Research in Art, Body and Occupational Therapy. This practice recovers the sense of art as a human attribute capable of transforming attitudes, knowledge spaces, and existential spaces in orther to alter one's quality of life. The Coral's tool is the promotion of encounters in which the singers could harmonize dissonances and tune differences, supporting an experience on the interface between choral singing, art and health on contemporaneity. Musical practice in groups who present this profile installs itself, therefore, not only as possible, but instigative in fomenting new possibilities for choral music, new establishment of relations and territories.


Subject(s)
Art , Culture , Music , Public Policy , Quality of Life , Mental Health , Occupational Therapy , Social Vulnerability
7.
Interface comun. saúde educ ; 14(35): 975-980, out.-dez. 2010. ilus
Article in Portuguese | LILACS | ID: lil-567387
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