The impact of patient and public involvement in chronic respiratory disease research: the ConectAR experience.

ConectAR has demonstrated the feasibility and value of involving patients with chronic respiratory diseases and caregivers as co-researchers, actively considering their perspectives from project inception to implementation and dissemination https://bit.ly/3Oq13se.

Public involvement in chronic respiratory diseases research: A qualitative study of patients', carers' and citizens' perspectives.

INTRODUCTION: Patient and public involvement (PPI) initiatives involving patients with chronic respiratory disease (CRD) are rare. Therefore, this study aimed to explore the perspectives of patients with CRD, carers and interested citizens regarding the relevance and need for a PPI network and suggestions for its implementation. METHODS: A qualitative study based on focus groups was conducted. Recruitment occurred through invitations on social media platforms and to patients who have participated in previous asthma studies of the team. Three focus groups were conducted, via video conference, using a semi-structured guide. Thematic analysis was performed by two independent researchers and discussed with the extended team. RESULTS: Fifteen patients with CRD, one carer and one interested citizen (13 females, median 36 (range: 18-72) years) participated. All participants acknowledged the importance of implementing a collaborative network and demonstrated interest in being integrated. Participants acknowledged the importance of their involvement in several phases of the research cycle. The main aim identified for this network was to facilitate communication between patients and researchers. Participants regarded the integration of patients, carers, researchers and healthcare professionals from different scientific areas as relevant. The use of digital platforms to attract members and support the work, together with group dynamics and regular meetings, were some of the most relevant practical considerations for implementing the network. The identified facilitators for their engagement were sharing experiences, researchers' and healthcare professionals' support and feedback and schedule flexibility. The identified barriers included the amount of time dedicated, low health/digital literacy and the potential detachment of nondiagnosed patients or those with low symptom impact in daily life. CONCLUSION: Patients, carers and citizens acknowledged the relevance of implementing a collaborative network and demonstrated interest in active participation in every stage of the health research cycle. A deeper knowledge of the barriers and facilitators identified in this study could support implementing these initiatives in Portugal. PATIENT OR PUBLIC CONTRIBUTION: This study was designed by a research team that included one patient with asthma and one carer. They were specifically involved in building the study protocol and the interview guide. They also gave feedback regarding the electronic consent form and the short sociodemographic questionnaire created, namely by removing noncontributing words or phrases and rewording expressions. The lay summary was written by another patient with asthma. All participants of this study were invited to implement and integrate the ConectAR network-a collaborative network of research in respiratory health. PUBLIC SUMMARY: In Portugal, chronic respiratory patients do not have an active role as 'coinvestigators'. This study aimed to acknowledge if patients and citizens considered a patient and public involvement network useful, whose main purpose would be to facilitate communication between patients and researchers. A study based on online group interviews was carried out with patients with chronic respiratory diseases and interested citizens, both recruited on social media platforms. Participants considered that bringing together patients, carers, researchers and healthcare professionals is valuable because sharing different experiences and perspectives may help patients to improve their daily lives and increase research quality. In conclusion, patients agree that implementing a collaborative network with researchers and healthcare professionals and participating in the health research cycle is quite preponderant. Acknowledging what can help and deter this network may be beneficial to implementing this type of initiative in Portugal.

Cranial Nerve Thinning Distinguishes RFC1-Related Disorder from Other Late-Onset Ataxias.

BACKGROUND: RFC1-related disorder (RFC1/CANVAS) shares clinical features with other late-onset ataxias, such as spinocerebellar ataxias (SCA) and multiple system atrophy cerebellar type (MSA-C). Thinning of cranial nerves V (CNV) and VIII (CNVIII) has been reported in magnetic resonance imaging (MRI) scans of RFC1/CANVAS, but its specificity remains unclear. OBJECTIVES: To assess the usefulness of CNV and CNVIII thinning to differentiate RFC1/CANVAS from SCA and MSA-C. METHODS: Seventeen individuals with RFC1/CANVAS, 57 with SCA (types 2, 3 and 6), 11 with MSA-C and 15 healthy controls were enrolled. The Balanced Fast Field Echo sequence was used for assessment of cranial nerves. Images were reviewed by a neuroradiologist, who classified these nerves as atrophic or normal, and subsequently the CNV was segmented manually by an experienced neurologist. Both assessments were blinded to patient and clinical data. Non-parametric tests were used to assess between-group comparisons. RESULTS: Atrophy of CNV and CNVIII, both alone and in combination, was significantly more frequent in the RFC1/CANVAS group than in healthy controls and all other ataxia groups. Atrophy of CNV had the highest sensitivity (82%) and combined CNV and CNVIII atrophy had the best specificity (92%) for diagnosing RFC1/CANVAS. In the quantitative analyses, CNV was significantly thinner in the RFC1/CANVAS group relative to all other groups. The cutoff CNV diameter that best identified RFC1/CANVAS was ≤2.2 mm (AUC = 0.91; sensitivity 88.2%, specificity 95.6%). CONCLUSION: MRI evaluation of CNV and CNVIII using a dedicated sequence is an easy-to-use tool that helps to distinguish RFC1/CANVAS from SCA and MSA-C.

Nigrostriatal dysfunction in RFC1-related disorder/CANVAS.

INTRODUCTION: Parkinsonism is now recognized as an additional feature in RFC1/CANVAS syndrome; however, no systematic evaluation of nigrostriatal dopaminergic function has been published so far. METHODS: This is an observational, single-center study, which analyzed 13 patients with molecular confirmation of RFC1/CANVAS. Disease severity was assessed with the SARA scale. Each subject was carefully evaluated for the presence of parkinsonian features. Dopamine transporter (DAT) imaging was acquired and reconstructed in the transverse, coronal and sagittal planes 4 h after venous injection of 99mTc-TRODAT-1. An experienced nuclear physician performed the visual analysis of all images. RESULTS: Patients had a mean age of 62.3 ± 8.8 years, and there were 9 women. The mean SARA score was 15.5 ± 5.8. Nine patients had abnormal DAT imaging results. The putamen was more frequently affected than the caudate nucleus on both sides. Considering all regions, uptake of 99mTc-TRODAT-1 did not correlate with disease duration or SARA scores. Parkinsonism was noticed in 3/13 patients, all of which had abnormal DAT scans. Interestingly, six subjects had reduced DAT imaging uptake, but no clinical signs of parkinsonism. CONCLUSION: Nigrostriatal dysfunction is frequent in RFC1/CANVAS even in the absence of clinical parkinsonism and may occur early in the disease course.

Rituximab therapy for childhood onset idiopathic nephrotic syndrome: experience of a Portuguese tertiary center / Terapia com Rituximabe para síndrome nefrótica idiopática de início na infância: experiência de um centro terciário português

ABSTRACT Introduction: Rituximab (RTX) is a therapeutic option in pediatric difficult-to-treat idiopathic nephrotic syndrome (NS). We aimed to assess the efficacy and safety of RTX use in these patients. Method: A retrospective study of all patients with idiopathic NS treated with RTX was conducted in a pediatric nephrology division of a tertiary hospital. Demographic, anthropometric, clinical and analytical data were collected prior to treatment and at 6, 12, and 24 months. Results: Sixteen patients were included (11 males), with a median (25th-75th percentile, P25-P75) age at diagnosis of 2 (2.0-2.8) years. Fifteen were steroid-sensitive and 1 was steroid-resistant and sensitive to cyclosporine. The median age at administration of RTX was 10 (6.3-14.0) years. Throughout a median follow-up time of 2.5 (1.0-3.0) years, 6 (37.5%) patients achieved partial remission and 7 (43.8%) had no relapses and were not taking any immunosuppressants at the 24-month follow-up visit. Regarding complications, 1 patient presented persistent hypogammaglobulinemia. Compared with the 12-month period before RTX, there was a decrease in the median number of relapses at 6 and 12 months [3 (3.0-4.0) vs 0 (0-0.8) and 0.50 (0-1.0), respectively; p = 0.001] and in the daily steroids dose (mg/kg/day) at 6, 12, and 24 months [0.29 (0.15-0.67)vs [0.10 (0.07-0.13); p = 0.001], [0.12 (0.05-0.22); p = 0.005] and [0.07(0.04-0.18); p = 0.021]], respectively. There was also a reduction in the median BMI z score at 24 months [2.11 (0.45-3.70) vs. 2.93 (2.01-3.98); p = 0.049]. Conclusion: Our results confirm the efficacy and safety of RTX use in pediatric idiopathic NS and highlight its' potential cardiometabolic benefits.

Resumo Introdução: Rituximabe (RTX) é uma opção terapêutica na síndrome nefrótica (SN) idiopática pediátrica de difícil tratamento. Visamos avaliar eficácia e segurança do uso de RTX nestes pacientes. Método: Realizou-se estudo retrospectivo de todos os pacientes com SN idiopática tratados com RTX, em uma unidade de nefrologia pediátrica de um hospital terciário. Dados demográficos, antropométricos, clínicos e analíticos foram coletados antes do tratamento e aos 6, 12 e 24 meses. Resultados: Incluímos 16 pacientes (11 do sexo masculino), com idade mediana (percentil 25-75, P25-P75) de 2 (2,0-2,8) anos ao diagnóstico. Quinze eram sensíveis a esteroides, e 1 resistente a esteroides e sensível à ciclosporina.A idade mediana na administração do RTX foi 10 (6,3-14,0) anos. Durante um tempo mediano de acompanhamento de 2,5(1,0-3,0) anos, 6 (37,5%) pacientes alcançaram remissão parcial e 7 (43,8%) não tiveram recidivas e não estavam tomando imunossupressor no acompanhamento aos 24 meses. Quanto às complicações,1 paciente apresentou hipogamaglobulinemia persistente. Comparado ao período de12 meses anterior ao RTX, houve diminuição no número mediano de recidivas em 6 e 12 meses [3 (3,0-4,0) vs 0 (0-0,8) e 0,50 (0-1,0), respectivamente; p = 0,001] e na dose diária de esteroides (mg/kg/dia) aos 6, 12 e 24 meses [0,29 (0,15-0,67) >vs [0,10 (0,07-0,13); p = 0,001], [0,12 (0,05-0,22); p = 0,005] e [0,07 (0,04-0,18); p = 0,021], respectivamente. Houve também redução na mediana do escore z do IMC aos 24 meses [2,11 (0,45-3,70) vs 2,93 (2,01-3,98);p = 0,049]. Conclusões: Nossos resultados confirmam a eficácia e segurança do uso de RTX em SN idiopática pediátrica, destacando seus potenciais benefícios cardiometabólicos.

Working time arrangements and exhaustion: The role of recovery experiences and satisfaction with the schedule.

Working time arrangements may be a source of strain and entail negative consequences for workers, one of which can be exhaustion. Based on the job demands-resources and the conservation of resources theories, this study explores recovery experiences from work and satisfaction with the work schedule as possible resources that may prevent or minimize such negative consequences. With a sample of 386 workers (n = 287 women; 99 men) and using a cluster analysis, we identified five working time arrangements: fixed standardized, part-time, irregular standardized, flexible standardized, and nonstandard work schedule (NWS). A one-way ANOVA found that workers in the irregular standardized schedule report higher exhaustion compared to the fixed standardized and the part-time. Exhaustion of workers in NWS is higher compared to the part-time workers. A multiple linear regression analysis found that the link between recovery experiences and exhaustion varies according to the working time arrangement. Lastly, an interaction analysis confirmed the moderator effect of satisfaction with the work schedule in the relationship between recovery experiences and exhaustion for the whole sample. When this analysis was performed separately for each cluster, this effect was only significant for NWS and by disentangling this finding by recovery dimensions, only relaxation had a significant interaction effect. This study clarifies the links between different recovery experiences and exhaustion, and points to the importance of satisfaction with the work schedule in facilitating recovery under demanding working time arrangements. Results are discussed considering the complex nature of the work-family interface.

Stability and Change in Adolescents' Sense of Agency: Contributions of Sex, Multiple Risk, Pandemic Stress, and Attachment to Parents.

Although literature states that individual, relational, and contextual factors contribute to adolescents' sense of agency, more research is needed to clarify and understand how adolescents develop this belief over time. The current study examined the stability/change trajectories of the sense of agency during adolescence, specifically across high school, analyzing whether attachment to parents over time, adolescents' sex, cumulative risk in baseline, and pandemic-related stress explained these trajectories. The sample included 467 Portuguese adolescents (40.7% were males; Mage = 15.58 years, SD = 0.80), evaluated three times across 18 months. This work yielded three significant findings. First, adolescents' sense of agency significantly increased over time, with significant between-subject variance at the initial levels but not at the growth rate. Second, attachment to parents consistently links to adolescents' sense of agency across time, despite the differential contributions from attachment to mothers and fathers. Third, boys reported greater growth in the sense of agency than girls. Adolescents' cumulative risk at T1 predicted lower initial levels of sense of agency, whereas higher pandemic-related stress predicted less growth of the sense of agency. These findings emphasize the contributions of individual and family characteristics and the role of the broader social context in shaping the development of adolescents' sense of agency. The findings underline the need to consider further the differential influences of adolescents' relationships with mothers and fathers to understand changes in adolescents' sense of agency.

The Genetic Psychosocial Risk Instrument (GPRI): A Validation Study for European Portuguese.

INTRODUCTION: Screening instruments specifically developed to identify genetic testing applicants who may need professional psychosocial support are much needed. However, there are no screening instruments validated for the Portuguese language. This paper presents the translation, adaptation, and validation process of the Genetic Psychosocial Risk Instrument in a sample of 207 Portuguese applicants to genetic testing in the context of inherited cancer risk. MATERIAL AND METHODS: Participants were mainly female (84.06%), with a mean age of 40.08 (SD = 12.89) and were recruited from the Portuguese Oncology Institute of Porto. Confirmatory factor analysis was conducted to confirm the Genetic Psychosocial Risk Instrument factorial structure. Convergent validity was assessed with the Impact of Events Scale, the Clinical Outcome Routine Evaluation - Outcome Measure, and the Hospital Anxiety and Depression Scale. RESULTS: A model composed by the factors 'Internal Impact of Genetic Testing', 'External Impact of Genetic Testing' and 'History of Mental Health Concerns' was confirmed. These factors showed good internal consistency, convergent and discriminant validity. The factor 'Personal Loss to Cancer' proposed in the Canadian and French versions did not converge. We propose excluding this factor from the European Portuguese version of the scale. CONCLUSION: The European Portuguese version of the Genetic Psychosocial Risk Instrument is a reliable and valid instrument, although more research is needed to effectively use it in routine clinical oncogenetic departments.

Introdução: A literatura tem apontado a necessidade de instrumentos de rastreio de risco psicossocial desenvolvidos especificamente para o contexto do teste genético. No entanto, de acordo com o nosso melhor conhecimento, não existe nenhum instrumento com estas características que esteja validado para a língua portuguesa. Este artigo apresenta o processo de tradução, adaptação e validação do Instrumento de Risco Psicossocial Genético numa amostra de 207 utentes convidados à realização de testes genéticos no contexto de risco de cancro hereditário. Material e Métodos: Os participantes são maioritariamente do sexo feminino (84,06%), com média de idade de 40,08 (DP = 12,89) e foram recrutados no Instituto Português de Oncologia do Porto. Foi realizada uma análise fatorial confirmatória para estudar a estrutura fatorial do Instrumento de Risco Genético Psicossocial. A validade convergente foi avaliada com a Escala de Impacto de Eventos, a Escala da Avaliação de Rotina de Resultado Clínico - Medida de Resultado e a Escala de Ansiedade e Depressão Hospitalar. Resultados: Confirmou-se um modelo composto pelos fatores 'Impacto Interno do Teste Genético', 'Impacto Externo do Teste Genético' e 'Histórico de Preocupações com a Saúde Mental'. Estes fatores apresentaram boa consistência interna, validade convergente e discriminante. O fator 'Perda Pessoal para o Cancro' proposto nas versões Canadiana e Francesa não convergiu. Propomos excluir este fator da versão portuguesa da escala. Conclusão: A versão portuguesa do Instrumento de Risco Genético Psicossocial é um instrumento confiável e válido, embora seja necessária mais investigação para que seja integrado efetivamente na prática de rotina.

Rituximab therapy for childhood onset idiopathic nephrotic syndrome: experience of a Portuguese tertiary center.

INTRODUCTION: Rituximab (RTX) is a therapeutic option in pediatric difficult-to-treat idiopathic nephrotic syndrome (NS). We aimed to assess the efficacy and safety of RTX use in these patients. METHOD: A retrospective study of all patients with idiopathic NS treated with RTX was conducted in a pediatric nephrology division of a tertiary hospital. Demographic, anthropometric, clinical and analytical data were collected prior to treatment and at 6, 12, and 24 months. RESULTS: Sixteen patients were included (11 males), with a median (25th-75th percentile, P25-P75) age at diagnosis of 2 (2.0-2.8) years. Fifteen were steroid-sensitive and 1 was steroid-resistant and sensitive to cyclosporine. The median age at administration of RTX was 10 (6.3-14.0) years. Throughout a median follow-up time of 2.5 (1.0-3.0) years, 6 (37.5%) patients achieved partial remission and 7 (43.8%) had no relapses and were not taking any immunosuppressants at the 24-month follow-up visit. Regarding complications, 1 patient presented persistent hypogammaglobulinemia. Compared with the 12-month period before RTX, there was a decrease in the median number of relapses at 6 and 12 months [3 (3.0-4.0) vs 0 (0-0.8) and 0.50 (0-1.0), respectively; p = 0.001] and in the daily steroids dose (mg/kg/day) at 6, 12, and 24 months [0.29 (0.15-0.67)vs [0.10 (0.07-0.13); p = 0.001], [0.12 (0.05-0.22); p = 0.005] and [0.07(0.04-0.18); p = 0.021]], respectively. There was also a reduction in the median BMI z score at 24 months [2.11 (0.45-3.70) vs. 2.93 (2.01-3.98); p = 0.049]. CONCLUSION: Our results confirm the efficacy and safety of RTX use in pediatric idiopathic NS and highlight its' potential cardiometabolic benefits.

Modelling the response of urban lichens to broad-scale changes in air pollution and climate.

To create more resilient cities, it is important that we understand the effects of the global change drivers in cities. Biodiversity-based ecological indicators (EIs) can be used for this, as biodiversity is the basis of ecosystem structure, composition, and function. In previous studies, lichens have been used as EIs to monitor the effects of global change drivers in an urban context, but only in single-city studies. Thus, we currently do not understand how lichens are affected by drivers that work on a broader scale. Therefore, our aim was to quantify the variance in lichen biodiversity-based metrics (taxonomic and trait-based) that can be explained by environmental drivers working on a broad spatial scale, in an urban context where local drivers are superimposed. To this end, we performed an unprecedented effort to sample epiphytic lichens in 219 green spaces across a continental gradient from Portugal to Estonia. Twenty-six broad-scale drivers were retrieved, including air pollution and bio-climatic variables, and their dimensionality reduced by means of a principal component analysis (PCA). Thirty-eight lichen metrics were then modelled against the scores of the first two axes of each PCA, and their variance partitioned into pollution and climate components. For the first time, we determined that 15% of the metric variance was explained by broad-scale drivers, with broad-scale air pollution showing more importance than climate across the majority of metrics. Taxonomic metrics were better explained by air pollution, as expected, while climate did not surpass air pollution in any of the trait-based metric groups. Consequently, 85% of the metric variance was shown to occur at the local scale. This suggests that further work is necessary to decipher the effects of climate change. Furthermore, although drivers working within cities are prevailing, both spatial scales must be considered simultaneously if we are to use lichens as EIs in cities at continental to global scales.

Psychological group intervention to support parenting: Qualitative study about needs and preferences of mothers with breast cancer.

PURPOSE: Parental worries and parenting stress can increase when a mother receives a breast cancer diagnosis. This study presents the findings of needs and preferences of mothers with breast cancer to inform the development of a group intervention program for mothers with breast cancer and other alternatives of support. METHODS: Using qualitative data from eighteen Portuguese women with at least one minor child when they received a breast cancer diagnosis, and content analysis on three focus groups transcripts, we uncover the participants' parenting needs and their perceptions of the potential benefits and the formal aspects of a group intervention. RESULTS: Mothers revealed that they need support on several parenting-related issues (e.g., communicating with the children about the mother's diagnosis, dealing with children's responses and difficult questions). They provided information about the potential benefits of group intervention and preferences regarding intervention content, sessions' structure, frequency, location, and timing. Some participants also suggested other types of support, such as online information and individual psychological support. CONCLUSIONS: The development of an intervention informed by the patients' needs and preferences can contribute to increasing its feasibility and efficacy. The findings indicated the specific parenting needs of Portuguese mothers with breast cancer, and it offered health professionals some important clues on how to support other family members.

Communication concerns in mothers with cancer: Development and psychometric properties of a new measure.

OBJECTIVE: This study aimed to present the development of the Communication Concerns in Parents with Cancer Scale (CCPCS) and to evaluate its psychometric properties in mothers with cancer. METHODS: Two hundred and twenty-nine mothers with cancer participated in this study. Participants reported on parenting concerns, depressive and anxiety symptoms and quality of life. An exploratory factor analysis (EFA) was performed to explore the factor structure of the new scale. Concurrent and convergent validity, internal consistency and test-retest reliability were evaluated/obtained. To measure invariance according to type of cancer and time passed since diagnosis, a multi-group analysis was used. RESULTS: EFA suggested that the scale comprised one factor that explained 75.63% of the total variance. The developed CCPCS had high internal consistency. Communication concerns were positively associated with other parenting concerns, as well as anxiety and depression symptoms. Test of measurement invariance showed scalar invariance for type of cancer, and residual invariance for time passed since diagnosis. CONCLUSION: The CCPCS seems to be a promising scale to measure communication concerns in mothers with cancer for clinical and research purposes. Knowing the impact of communication concerns in the mother's process of adaptation to cancer can provide clues for the psycho-oncological care offered.

Dysautonomia in RFC1-related disorder: Clinical and neurophysiological evaluation.

OBJECTIVE: To characterize and quantify autonomic involvement in patients with RFC1-related disorder of adult-onset cerebellar ataxia and idiopathic sensory neuropathy. METHODS: We enrolled 16 subjects with biallelic RFC1 (AAGGG)n expansions and 16 age and sex-matched healthy controls that underwent comprehensive clinical and neurophysiological evaluation. Scales for Outcomes in Parkinson's Disease Autonomic Dysfunction (SCOPA-AUT) score was used to assess autonomic symptoms. Electrophysiological testing included assessment of heart rate variability and quantitative sudomotor axon reflex test (QSART). Between-group comparisons were assessed using non-parametric tests. RESULTS: In the patient group, there were 9 men/7 women and the median age was 60.5 years. SCOPA-AUT scores were significantly higher in the RFC1 group compared to controls (22 vs 10, p < 0.001). Half of patients had cardiac autonomic neuropathy. In neurophysiology, there was resting tachycardia combined with abnormal responses during Valsalva maneuver and deep breathing among patients. QSART responses were also significantly reduced in the RFC1 group, especially in the lower limbs. CONCLUSIONS: Autonomic dysfunction is frequent, clinically relevant and involves multiple domains in RFC1-related disorder. Patients have both sympathetic and parasympathetic involvement. From a topographical perspective, this condition is characterized by a small fiber autonomic axonopathy. SIGNIFICANCE: Dysautonomia is frequent, severe and related to peripheral damage in RFC1-related disorder.

RFC1-Related Disorder: In Vivo Evaluation of Spinal Cord Damage.

BACKGROUND: RFC1-related disorder is a novel heredodegenerative condition with a broad phenotypic spectrum. Its neuropathological bases are not yet fully understood, particularly regarding the pattern, extent, and clinical relevance of spinal cord (SC) damage. OBJECTIVES: The objectives were to determine the SC structural signature in RFC1-related disorder in vivo and to identify potential clinical correlates for these imaging abnormalities. METHODS: We enrolled 17 subjects with biallelic RFC1 (AAGGG)n expansions and 11 age- and sex-matched healthy controls that underwent multimodal magnetic resonance imaging SC acquisitions in a 3T Philips Achieva scanner. Both global morphometry and tract-specific analyses were then performed across all cervical levels. Between-group comparisons were assessed using nonparametric tests. RESULTS: In the patient group, mean age and disease duration were 62.9 ± 9.3 and 9.3 ± 4.0, respectively. Compared to controls, patients had remarkable SC cross-sectional area reduction along all cervical levels but anteroposterior flattening only in the lower cervical levels. There was also prominent SC gray matter atrophy. Diffusivity abnormalities were identified in the dorsal columns but not in the lateral corticospinal tracts. Disease severity did not correlate with these imaging parameters. CONCLUSION: SC damage is a hallmark of RFC1-related disorder and characterized by gray as well as white matter involvement. In particular, dorsal columns are severely and diffusely affected. The clinical correlates of these imaging abnormalities still deserve additional investigations. © 2022 International Parkinson and Movement Disorder Society.

The Perceptions of Students and Lecturers on the Use of Animals in Biomedical Science Undergraduate Education in Brazil.

The use of animals in research and education is a controversial topic that has raised extensive debates. Undergraduate students (n = 404) and lecturers (n = 62) from biomedical science schools at the Federal University of Goiás (UFG) in the municipality of Goiânia, Jataí and Catalão, Goiás, Brazil, were asked about their knowledge and opinions on bioethics, the use and importance of animals in education, the replacement of animal use with non-animal alternatives, and the current legislation of the National Council for the Control of Animal Experimentation (CONCEA) that bans animal use in some practical classes within technical and higher education (i.e. Resolution No. 53/2021). Most students and lecturers agreed not only that animal use can contribute to education, but also that it is important to replace this animal use with innovative non-animal alternatives where appropriate. The lecturers emphasised that the replacement of animal models will be possible only with the provision of appropriate training to improve the skills of educators in their use, as well as ensuring reliable access to suitable facilities and materials.

Adolescents' attachment, quality of relationships with residential caregivers, and emotion regulation.

INTRODUCTION: Adolescents in residential care are more likely to report insecure and especially disorganized attachments, which lead to difficulties in emotion regulation and compromise the quality of their interpersonal relationships. In residential care, it is expected that sensitive and responsive caregivers are able to help adolescents regulate their feelings of distress, enabling them to experience a sense of emotional security. The present study sought to analyze the effects of the quality of attachment on emotion regulation and to test the moderating effect of quality of relationship (from adolescents' and caregivers' perspectives) on this association. METHODS: The sample involved 306 adolescents, 12-18 years of age, living in residential care and 70 caregivers. RESULTS: The findings underscored the importance of the quality of the relationship with residential caregivers on adolescents' emotion regulation competencies over time. The results also showed that the quality of relationship (emotional closeness) as perceived by the caregivers moderated the association between adolescents' attachment avoidance levels and their emotion regulation strategies. CONCLUSIONS: The results are discussed according to attachment theory, and underscore the role the relationship with caregivers plays in the affective reorganization of adolescents living in residential care.

"I have always lived with the disease in the family": family adaptation to hereditary cancer-risk.

BACKGROUND: Hereditary cancer syndromes have been conceptualized as a family level process. The present study explores the complexity and challenges of family adaptation to the hereditary cancer syndrome, in the context of genetic counseling and long-term cancer risk management and follow-up surveillance. METHODS: We performed semi-structured interviews with 13 participants with one of the following hereditary cancer syndromes: Lynch Syndrome, Hereditary Diffuse Gastric Cancer Syndrome, Hereditary Breast and Ovarian Cancer Syndrome, or Familial Adenomatous Polyposis. The interview was developed through a participatory approach with the involvement of healthcare professionals and individuals with first-hand experience of living with the hereditary cancer syndromes. RESULTS: The family is the main source of information and emotional support to deal with hereditary cancer syndromes. Multiple individual adaptation processes and communal coping networks interact, influencing the emotional and health-related behavior of family members. This is affected and affects the family's communication and its' members reactions to disclosure, with consequent changes in relationships. CONCLUSIONS: The systemic interdependent dynamics of family adaptation calls for family-centered care of genetic cancer syndromes.

Clinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia.

BACKGROUND: Ataxia with oculomotor apraxia (AOA) is characterized by early-onset cerebellar ataxia associated with oculomotor apraxia. AOA1, AOA2, AOA3, and AOA4 subtypes may present pathogenic variants in APTX, SETX, PIK3R5, and PNKP genes, respectively. Mutations in XRCC1 have been found to cause autosomal recessive spinocerebellar ataxia-26 (SCAR26) now considered AOA5. OBJECTIVES: To examine a cohort of Brazilians with autosomal recessive cerebellar ataxia plus oculomotor apraxia and determine the frequencies of AOA subtypes through genetic investigation. METHODS: We evaluated clinical, biomarkers, electrophysiological, and radiological findings of 52 patients with AOA phenotype and performed a genetic panel including APTX, SETX, PIK3R5, PNKP, and XRCC1. RESULTS: We found pathogenic variants in SETX (15 patients), PNKP (12), and APTX (5). No mutations in PIK3R5 or XRCC1 were identified. CONCLUSIONS: AOA2 and AOA4 were the most common forms of AOA in Brazil. Mutations in PIK3R5 and XRCC1 were not part of this genetic spectrum. © 2022 International Parkinson and Movement Disorder Society.