Widening the spectrum of deletions and molecular mechanisms underlying alpha-thalassemia.

Inherited deletions of α-globin genes and/or their upstream regulatory elements (MCSs) give rise to α-thalassemia, an autosomal recessive microcytic hypochromic anemia. In this study, multiplex ligation-dependent probe amplification performed with commercial and synthetic engineered probes, Gap-PCR, and DNA sequencing were used to characterize lesions in the sub-telomeric region of the short arm of chromosome 16, possibly explaining the α-thalassemia/HbH disease phenotype in ten patients. We have found six different deletions, in heterozygosity, ranging from approximately 3.3 to 323 kb, two of them not previously described. The deletions fall into two categories: one includes deletions which totally remove the α-globin gene cluster, whereas the other includes deletions removing only the distal regulatory elements and keeping the α-globin genes structurally intact. An indel was observed in one patient involving the loss of the MCS-R2 and the insertion of 39 bp originated from a complex rearrangement spanning the deletion breakpoints. Finally, in another case, no α-globin gene cluster deletion was found and the patient revealed to be a very unusual case of acquired α-thalassemia-myelodysplastic syndrome. This study further illustrates the diversity of genomic lesions and underlying molecular mechanisms leading to α-thalassemia.

Culture Circles in adolescent empowerment for the prevention of violence.

An action research based on Paulo Freire's Culture Circles was developed to implement a health education intervention involving adolescents, in collective knowledge construction about strategies for the prevention of violence. The data collection in the Culture Circles involved 11 adolescents and included observation and field diary, photographic records and recording. The educational action aroused a critical socio-political and cultural position in the adolescents towards the situations of vulnerability to violence, including the guarantee of human rights, justice and the combat of inequities; changes in the social relations, combat against discrimination and intolerance; expansion of access and reorientation of health services through intersectoral public policies. The intervention empowered the group of adolescents for the prevention of violence and permitted the inclusion of health professionals in the school context, from an interdisciplinary perspective, contributing to the establishment of social support and protection networks.

Intersectionality and challenges in support for chest-feeding transgender men. / Desafios para o suporte à amamentação em homens transgêneros sob à luz da interseccionalidade.

This article tried, from an intersectional standpoint, to grasp the challenges experienced by health professionals and service users of human milk banks in provision of care for transgender men chestfeeding. This exploratory, descriptive qualitative study drew on interviews of six human milk bank staff, who had previously assisted trans men in relation to chestfeeding and two bisexual trans men, who chestfed. The data was treated by thematic analysis, supported by Atlas.ti software, version 9.0. Lacunas in the educational, institutional and management spheres, associated with personal and social issues, reproduce a pre-conceived normative model and disregard the special demands of providing chestfeeding care for the trans population. Cisheteronormativity and "professional supremacy" operate in personal, social and institutional respects to segregate transgender men in lactation support services. Intersectional analysis of these challenges affords an overall view of segregative factors and enables public policies to be introduced to promote social justice.

O objetivo deste artigo é apreender os desafios nas vivências dos usuários e profissionais de Banco de Leite Humano no atendimento a homens transgêneros no contexto da amamentação sob à luz da Interseccionalidade. Estudo qualitativo descritivo-exploratório a partir de entrevistas realizadas com seis profissionais do Banco de Leite Humano, que atenderam previamente homens trans no contexto de amamentação, e dois homens trans bissexuais, que amamentaram ao peito. Os dados foram tratados pela Análise Temática com auxílio do software Atlas.ti versão 9.0. Observam-se lacunas nas esferas educacionais, institucionais e na gestão, associadas a questões pessoais e sociais, que reproduzem um modelo pré-concebido normativo, desconsiderando as singularidades requeridas no atendimento à população trans no contexto da amamentação. A cisheteronormatividade e a supremacia do profissional operam em âmbitos pessoais, sociais e institucionais para a segregação de homens transgêneros nos serviços de suporte à amamentação. A análise interseccional destes desafios permite uma visão global dos fatores de segregação e a implementação de políticas públicas promotoras da justiça social.

[Validation of an instructional therapeutic tool to demonstrate cardiac catheterization]. / Validação de brinquedo terapêutico sobre cateterismo cardíaco.

The scope of this work was to validate a toy and a narrative as an instructional tool to present to children who are to be submitted to cardiac catheterization. Content validation was performed by 23 specialist judges (storytellers, child educators, nurses, medics, educational psychologists, occupational therapists, and a psychologist), by using a form considering the following topics: goals, structure and presentation, as well as relevance. Quantitative data was analyzed through the Content Validation Index (CVI) and a cutoff of 0.80 was adopted. Qualitative data was then submitted to thematic content analysis. The toy is composed of: figurines representing the child, the healthcare team, and the person responsible for the child, prototypes of the angiography equipment and the anesthesia equipment, and objects used in hospital for anesthetic induction and vein puncture. The narrative addresses the physical structure of the Hemodynamics room and all steps comprising pre-, trans- and post-cardiac catheterization in a playful way. The technology was validated by the judges with a total CVI of 0.95. The validated toy and narrative constitute a dialog between health, education and art that may contribute to integral and humanized care to the child.

Este trabalho visou validar um brinquedo e história como tecnologia educacional direcionada à orientação de crianças que serão submetidas ao cateterismo cardíaco. A validação de conteúdo foi realizada por 23 juízes especialistas (contadores de história, educadoras infantis, enfermeiros, médicos, psicóloga, psicopedagogas e terapeutas ocupacionais) através da utilização de formulário considerando os domínios: objetivos, estrutura e apresentação além de relevância. Os dados quantitativos foram analisados por intermédio do Índice de Validação de Conteúdo (IVC) e adotado o ponto de corte 0,80. Os dados qualitativos foram submetidos à análise temática de conteúdo. O brinquedo é composto por bonecos representativos da criança, equipe de saúde e responsável, miniatura de angiógrafo e de aparelho de anestesia e objetos de uso hospitalar para indução anestésica e punção venosa. A história aborda de forma lúdica a estrutura física da sala de Hemodinâmica e todas as etapas que compreendem o pré, trans e pós-cateterismo cardíaco. A tecnologia foi validada pelos juízes com um IVC total de 0,95. O brinquedo e a história validados constituem um diálogo entre saúde, educação e arte que poderá contribuir para uma assistência integral e humanizada à criança.

Circle of Culture and permanent education for transformation of professional practice: an integrative review. / Círculo de Cultura e educação permanente para transformação da prática profissional: uma revisão integrativa.

This article aimed to know the scientific evidence that underlies Culture Circle application as a device of Permanent Education in Health for professional practice transformation. This is an integrative literature review carried out in the PubMed, CINAHL, LILACS and Scopus databases, in October 2021, with the descriptors "health professionals", "professional practice", "continuing education", "health promotion" and the uncontrolled term "Culture Circle". Data were analyzed in a descriptive way. The results identified 217 articles and five were included to compose the final sample. It was identified that the most discussed themes in Culture Circles were health education and health promotion. There was an average of 13 participants, lasting between one and a half to four hours, with the presence of an animator/researcher and carried out in the workplace. It is concluded that applying Culture Circles in Permanent Education in Health is a powerful inducer of change in professional practice. Recommendations are presented for its application in empowering subjects and in strengthening health promotion actions as well as the need for field research to broaden the understanding of the implication of the method and its consequences in professional practice.

O objetivo é conhecer as evidências científicas que fundamentam a aplicação do Círculo de Cultura como dispositivo de Educação Permanente em Saúde para a transformação da prática profissional. Trata-se de uma revisão integrativa realizada nas bases de dados PubMed, CINAHL, LILACS e Scopus, em outubro de 2021, com os descritores: "profissionais de saúde", "prática profissional", "educação permanente", "promoção à saúde" e do termo não controlado "Círculo de Cultura". Analisaram-se os dados de modo descritivo. Foram identificados 217 artigos e cinco foram incluídos para compor a amostra final. Identificou-se que as temáticas mais abordadas nos Círculos de Cultura foram Educação em Saúde e Promoção à Saúde, houve uma média de 13 participantes, com duração entre uma hora e meia a quatro horas, com presença do animador/pesquisador e realizados no local de trabalho. Conclui-se que a aplicabilidade do Círculo de Cultura na Educação Permanente em Saúde é um potente indutor de mudança na prática profissional. Apresenta-se recomendações para sua aplicação no empoderamento dos sujeitos e no fortalecimento das ações de promoção à saúde, bem como, a necessidade de pesquisas de campo para ampliar a compreensão da implicação do método e seus desdobramentos na prática profissional.

Culture circle with community health workers about (lack of) knowledge and stigma of leprosy.

OBJECTIVE: To describe the construction aboutthe (lack of) knowledge and stigma of leprosy by Community Health Workers participating in the Culture Circle. METHOD: Qualitative, action-research type study supported by the Paulo Freire Culture Circle framework, carried out with 21 Community Health Workers. Data collected in November 2021, in the municipality of São Luís, Maranhão. The following categories were evidenced: knowledge about leprosy, signs and symptoms, stigma. RESULTS: The participants had knowledge about the disease, but they verbalized people's disinformation about leprosy, disbelief in relation to the cure, and situations of prejudice and stigma that are still present today. FINAL CONSIDERATIONS: The culture circle enabled the intertwining of scientific and empirical knowledge in the construction of a critical and reflective knowledge committed to welcoming and comprehensive care for people and families affected by leprosy.

Parenting of mothers of children in early childhood during the COVID-19 pandemic: qualitative research.

OBJECTIVES: to understand practices of mothers of children in early childhood who live in contexts of poverty in the face of the COVID-19 pandemic. METHODS: an exploratory, descriptive and qualitative study. Participants were selected in the community context, composing an intentional sample to be collected through semi-structured online interviews. Data were analyzed inductively and anchored in the Bioecological Model of Human Development. RESULTS: eight mothers participated in the research. Mothers highlighted pleasure in taking care of their children, although they were overloaded with activities and comprehensive care at the time of the pandemic. Children, in mothers' perception, showed a higher frequency of challenging behaviors, which may be related to negative parenting practices, such as punishment and physical violence. FINAL CONSIDERATIONS: interventions to support parenting become urgent in the face of changes brought about by the COVID-19 pandemic in families living in a context of poverty.

Youth empowerment in health: a theoretical structure of literacy practices.

OBJECTIVE: To develop a theoretical structure on literacy practices committed to health empowerment, based on the understanding of school adolescents and members of a Quilombola community in the State of Pernambuco, Brazil. METHOD: Interpretative analysis, based on the assumptions of the Grounded Theory and Symbolic Interactionism. For data collection, Culture Circles were conducted with 18 adolescents from October 2020 to August 2021. RESULTS: The theoretical archetype is structured based on the recognition of vulnerable youth context, and the development of potential through collective relations built by dialogue, trust, shared knowledge construction, and the use of technologies. FINAL CONSIDERATIONS: The theoretical structure on literacy practices committed to empowerment through the understanding of adolescents runs through the framework of a substantive theory that culminates in a perspective of agency and recognition of their needs.

Psychosocial predictors of adherence after liver transplant in a single transplant center in Portugal.

CONTEXT: Nonadherence has important implications for morbidity and mortality, reduced quality of life, and increased medical costs after transplant. OBJECTIVE; To investigate which psychiatric and psychosocial factors determine adherence after liver transplant. DESIGN: A group of 150 consecutive transplant candidates attending the outpatient clinics of the transplant unit of Hospital de Curry Cabral were studied between January 1,2006, and December 1, 2007. Among these, 84 received a transplant and of those 84, 11 recipients died, 3 received another transplant, and 8 refused to finish the study (62 patients remained). MEASURES: Before transplant, prospective recipients were assessed via the Hospital Anxiety and Depression Scale, the NEO Five-Factor Inventory, and the revised Illness Perception Questionnaire. Both before and after transplant, patients were assessed with the Multidimensional Adherence Questionnaire. RESULTS AND CONCLUSIONS: Adherence to medication improved significantly from before to after transplant. This kind of adherence after transplant was associated with adherence to medication before transplant and high scores on the personal control dimension of the Illness Perception Questionnaire before transplant. Therefore it might be useful to focus on patients with poor adherence to medication and low scores on the personal control dimension of the Illness Perception Questionnaire before transplant in order to design interventions for them.

Resilience of School Adolescents in a Socially Vulnerable Situation in the Light of Tidal Model.

BACKGROUND AND PURPOSE: Adolescents in contexts of social vulnerability experience obstacles in the development of their resilience, which compromises the development of coping/response strategies to daily adversities. This study aimed to understand the resilience process of school adolescents in situations of social vulnerability in the light of Barker's and Buchanan-Barker's Tidal Model. METHODS: This qualitative and exploratory study was carried out at a public school in the city of Recife, Pernambuco State, Brazil. The sample was composed of 17 adolescents. Data collection was carried out through in-depth narrative interviews. The material was analyzed with the aid of the software Interface de R pour les Analyses Multidimensionnelles de Textes et de Questionnaires, interpreted through the assumptions of Tidal Model. RESULTS: The dendrogram demonstrated the corpus delimited in five classes named as "Navigation Plan," "Storms," "Ocean of Experiences," "Rescue," and "Safe Harbor." CONCLUSIONS AND IMPLICATIONS FOR PRACTICE: Through learning from narratives, nurses understand the important resources of a recovery journey and take care "with" adolescents, supporting the development of resilience to face storms by taking the helm of the vessel and resuming their travel.

Prevalence and factors associated with dating violence among public school adolescents.

OBJECTIVE: Identify the prevalence and factors associated with dating violence among school adolescents. METHOD: Quantitative, descriptive, cross-sectional study, conducted in a state public school in Recife, Pernambuco, in August 2018, with 270 adolescents, aged between 12 and 19 years, from middle and high school. A form was applied with questions about the characterization of the adolescents, the experience of dating relationships, and the Conflict in Adolescent Dating Relationships Inventory. Pearson's chi-square test or Fisher's exact test was used for statistical analysis. RESULTS: The prevalence of physical, sexual, and psychological victimization was 31.9%, 36.4% and 81.8%, respectively. An association was identified between religious affiliation (p = 0.002), sexual orientation of the participants (p = 0.027), and parents' education (p = 0.015) and physical victimization during dating. CONCLUSION: Individual and contextual aspects related to dating violence among adolescents imply the need for the involvement of the school nurse in intersectoral and interdisciplinary health interventions.

Body composition, muscle strength, functional capacity, and physical disability risk in liver transplanted familial amyloidotic polyneuropathy patients.

BACKGROUND: Familial amyloidotic polyneuropathy (FAP) is a neurodegenerative disease leading to sensory and motor polyneuropathies, and functional limitations. Liver transplantation is the only treatment for FAP, requiring medication that negatively affects bone and muscle metabolism. The aim of this study was to compare body composition, levels of specific strength, level of physical disability risk, and functional capacity of transplanted FAP patients (FAPTx) with a group of healthy individuals (CON). METHODS: A group of patients with 48 FAPTx (28 men, 20 women) was compared with 24 CON individuals (14 men, 10 women). Body composition was assessed by dual-energy X-ray absorptiometry, and total skeletal muscle mass (TBSMM) and skeletal muscle index (SMI) were calculated. Handgrip strength was measured for both hands as was isometric strength of quadriceps. Muscle quality (MQ) was ascertained by the ratio of strength to muscle mass. Functional capacity was assessed by the six-minute walk test. RESULTS: Patients with FAPTx had significantly lower functional capacity, weight, body mass index, total fat mass, TBSMM, SMI, lean mass, muscle strength, MQ, and bone mineral density. CONCLUSION: Patients with FAPTx appear to be at particularly high risk of functional disability, suggesting an important role for an early and appropriately designed rehabilitation program.

Association between family dynamics and use of alcohol, tobacco, and other drugs by adolescents.

OBJECTIVES: to analyze, in the light of systemic thinking, the association between family dynamics and the use of alcohol, tobacco, and other drugs by adolescents throughout life. METHODS: a cross-sectional descriptive study was conducted in nine public schools in the city of Recife. Three hundred and sixty-four adolescents aged 14 to 19 years participated. We used three questionnaires: The Alcohol, Smoking, and Substance Involvement Screening Test, a reduced version of the Drug Use Screening Inventory; and a sociodemographic questionnaire. RESULTS: there was an association between parents/guardians ignoring what the child considers meaningful to him and the consumption of alcohol and tobacco by adolescents; we also verified an association between the occurrence of conflicting relationships and the consumption of illicit drugs by adolescents. CONCLUSIONS: it confirmed that disorganization in the family system, marked by impairments in emotional connections among members, and fragility in the sense of belonging are associated with the consumption of drugs in life by adolescents.

Impact of RIFLE classification in liver transplantation.

Acute renal failure (ARF) is common after orthotopic liver transplantation (OLT). The aim of this study was to evaluate the prognostic value of RIFLE classification in the development of CKD, hemodialysis requirement, and mortality. Patients were categorized as risk (R), injury (I) or failure (F) according to renal function at day 1, 7 and 21. Final renal function was classified according to K/DIGO guidelines. We studied 708 OLT recipients, transplanted between September 1992 and March 2007; mean age 44 +/- 12.6 yr, mean follow-up 3.6 yr (28.8% > or = 5 yr). Renal dysfunction before OLT was known in 21.6%. According to the RIFLE classification, ARF occurred in 33.2%: 16.8% were R class, 8.5% I class and 7.9% F class. CKD developed in 45.6%, with stages 4 or 5d in 11.3%. Mortality for R, I and F classes were, respectively, 10.9%, 13.3% and 39.3%. Severity of ARF correlated with development of CKD: stage 3 was associated with all classes of ARF, stages 4 and 5d only with severe ARF. Hemodialysis requirement (23%) and mortality were only correlated with the most severe form of ARF (F class). In conclusion, RIFLE classification is a useful tool to stratify the severity of early ARF providing a prognostic indicator for the risk of CKD occurrence and death.

[Health education based on culture circles]. / Educação em saúde a partir de círculos de cultura.

This study aims at systematizing with the participants of Culture Circles a proposal of reconstruction of actions of health education that show the necessary competences to the nurses of Family Health Program for a practice in education on critical and reflexive health. It is constituted of a research action, where the researcher based in "Paulo Freire Method" is encouraging debates in eight Culture Circles having the participation of ten nurses. The Circles give them the training of a political conscience , essential to the process of " empowerment " of the health professional in practicing his socio-politics competence. The proposal of achieving the Culture Circles establish a link of complicity between health professionals and communitarian groups with the actions of health promotion.

Practices in the healthcare of children and adolescents with leprosy: the discourse of professionals.

OBJECTIVE: To analyze the health care practices of children and adolescents with leprosy from the speeches of health professionals. METHOD: Qualitative research conducted with 23 health professionals who attended children and adolescents with leprosy in primary and secondary care in a municipality in the state of Pernambuco, from April to July 2018, through semi-structured interviews. Data were subjected to content analysis. RESULTS: The practice of health care was apprehended from the following categories of analysis: "Embracement in leprosy", "Clinical practice" and "Education in Health", with limitations in meeting the particularities of the studied population. CONCLUSIONS: Limiting aspects in health care practice contribute to the difficulties in controlling the disease, requiring the development of best practice recommendations that address the needs of children and adolescents.

Formation of protagonist adolescents to prevent bullying in school contexts.

OBJECTIVE: to develop a participative strategy of health education in the formative process of protagonist adolescents aimed at preventing school bullying. METHOD: qualitative interventive-participatory research, based on the Community-Based Participatory Research and in the Culture Circles of Paulo Freire. The sample was intentional, with the participation of 12 adolescents who were considered leaders. For data production at the moment of educational intervention, observation techniques were employed with note-taking in a field diary, plus photographic and video records. RESULTS: the pedagogical intervention model raised the opportunity for the adolescents' active participation, aiming at the development of skills that create pro-social behaviors, empathetic and assertive relations, which are able to face bullying and transform the school environment. Final considerations: the use of participative methodologies, in the youth protagonism perspective, has the potential to support educational practices of school nurses in collaboration and leadership of antibullying programs.

Development and validation of an interactive educational technology on spotted fever.

OBJECTIVE: to develop and validate an interactive educational technology on spotted fever, to offer an innovative teaching method. METHOD: a methodological study that covered the following stages: analysis and diagnosis; instructional planning, didactic design, review, and validation and production of technology. RESULTS: the analysis and diagnosis were obtained from experiences in education and health activities for spotted fever. In the instructional planning, it was defined that the technology would be presented in the form of an Interactive Laboratory, with learning stations. The production of the Laboratory was carried out by a multidisciplinary team made up of a carpenter, an electrician, and a plastic artist, among others. The review and validation process was subdivided into two stages: appearance and content validation by professionals in the fields of biology, and education and semantic validation by students of the Nursing and Pedagogy courses. The results of the appearance and content validation showed a content validity index over 0.8 for the vast majority of the variables. In the semantic validation, the Laboratory was evaluated positively by the students. CONCLUSION: the trajectory followed for the construction of the Interactive Laboratory on spotted fever gave academic and scientific support to the product, offering an innovative educational resource with pedagogical potential that values significant learning.

Family fortresses in Zika Congenital Syndrome according to Betty Neuman.

OBJECTIVES: to identify elements that contribute to strengthen the family system of children with Zika virus congenital syndrome according to Betty Neuman's theory. METHODS: qualitative research, carried out in the outpatient service of a public hospital in the city of Recife, Brazil, with 13 mothers, by semi-structured interviews. The IRAMUTEQ software was used for data analysis and the interpretation was carried out according to Betty Neuman's Systems Model Theory. RESULTS: the dendrogram originated five categories, which we named: Family Routine, Health Service Assistance, Changes in Lifestyle, Support Network, and Social Repercussions of Care for the the Family Context. FINAL CONSIDERATIONS: nursing actions based on Betty Neuman's theory provide subsidies for the recognition of elements that strengthen the defense lines of the family system. These resources can be explored, aiming to maintaining the well-being and balance in the context of the family system.

Quality of life following liver transplantation: a comparative study between Familial Amyloid Neuropathy and liver disease patients.

BACKGROUND: It has been demonstrated in many studies that quality of life can be improved after liver transplantation in patients with liver disease. Nevertheless, quality of life improvement in specific groups of transplanted patients such as those with Familial Amyloid Polyneuropathy has not yet been explored. The present study aimed to compare the change in quality of life following liver transplantation between patients with Familial Amyloid Polyneuropathy (FAP) and patients with liver disease. RESULTS: Patient's mental quality of life showed an improvement in all liver disease patients, and a worsening in FAP patients, resulting in a significant difference between the two groups. Regarding physical quality of life, although a similar improvement was seen in both groups, FAP patients had significantly less improvement than the sub-group of decompensated liver disease (Child-Pugh B and C). CONCLUSION: It is concluded that liver transplantation has a less beneficial impact in FAP patient's physical quality of life, probably because they are not so much disabled by their disease at the moment of liver transplantation. The lesser improvement in mental quality of life of FAP patients may be due to their particular psychological profile and greater expectations towards transplantation.