An intersectional approach to exploring lived realities and harnessing the creativity of ethnic minority youth for health gains: protocol for a multiphase mixed method study.

BACKGROUND: Understanding the diversity and multiplicity of identities experienced by youth in Aotearoa (Te reo Maori name of the country) New Zealand (NZ) is vital to promoting their wellbeing. Ethnic minority youth (EMY) in NZ (defined as those identifying with Asian, Middle Eastern, Latin American and African ethnic origins) have been historically under-studied and under-counted, despite reporting high levels of discrimination, a major determinant of mental health and wellbeing and potentially a proxy for other inequities. In this paper, we describe the protocol for a multi-year study that examines, using an intersectional approach, how multiple marginalised identities impact mental and emotional wellbeing of EMY. METHODS: This is a multiphase, multi-method study designed to capture the diversity of lived realities of EMY who self-identify with one or more additional marginalised intersecting identity (the population referred here as EMYi). Phase 1 (Descriptive study) will involve secondary analyses of national surveys to examine the prevalence and relationships between discrimination and wellbeing of EMYi. Phase 2 (Study on public discourse) will analyse data from media narratives, complemented by interviews with stakeholders to explore discourses around EMYi. Phase 3 (Study on lived experience) will examine lived experiences of EMYi to discuss challenges and sources of resilience, and how these are influenced by public discourse. Phase 4 (Co-design phase) will use a creative approach that is youth-centered and participatory, and will involve EMYi, creative mentors and health service, policy and community stakeholders as research partners and advisors. It will employ participatory generative creative methods to explore strengths-based solutions to discriminatory experiences. DISCUSSION: This study will explore the implications of public discourse, racism and multiple forms of marginalisation on the wellbeing of EMYi. It is expected to provide evidence on the impacts of marginalisation on their mental and emotional wellbeing and inform responsive health practice and policy. Using established research tools and innovative creative means, it will enable EMYi to propose their own strength-based solutions. Further, population-based empirical research on intersectionality and health is still nascent, and even more scarce in relation to youth. This study will present the possibility of expanding its applicability in public health research focused on under-served communities.

The grief experience during the COVID-19 pandemic across different cultures.

Grief is the physical or mental suffering experienced after a major loss, usually the death of a loved one. It is a universal experience, but sociocultural factors, such as cultural or ethnic identity and religious beliefs predict and shape the expression of grief. The circumstances under which people are experiencing grief during the coronavirus outbreak have adversely affected the grieving process. Unexpected deaths, social distancing rules and visitor restrictions in healthcare facilities have posed a heavier burden on the loss and have heightened the risk of grievers experiencing complicated or persistent grief. This concern led us, as early career psychiatrists (ECPs) from 14 different countries connected by the Early Career Psychiatrists Section of the World Psychiatric Association (WPA), to share our country-specific experiences on the mourning, grief tradition, and burial rites during the COVID-19 pandemic. In this paper, we discuss our experiences, similarities and differences with relation to the: 'Effect of the pandemic on mourning', 'Restrictions and Guideline on burial rites due to the pandemic', 'Effect of the pandemic on social support' and 'Role of media and telecommunication on mourning practices and burial rites'. We conclude that while telecommunication means have attempted to bridge the gap and provide some form of social connectedness, the total and global effect of the pandemic is yet to be fully seen and understood.

A mindfulness-based cognitive therapy informed virtual psychiatry trainee wellbeing programme: Development and preliminary feedback.

OBJECTIVE: To report the development and feedback on a newly created mindfulness-based cognitive therapy (MBCT) informed virtual wellbeing programme for psychiatry trainees. METHODS: Thirteen of the 14 trainees participated in the programme provided feedback via an online questionnaire. Qualitative data was analysed using thematic analysis. RESULTS: Thematic analysis revealed three main themes: timing of the intervention in relation to the COVID-19 pandemic; trainees were connected to the facilitator, their peers and within oneself; and trainees were going through a transformative experience. DISCUSSION: Our findings support including an optional MBCT informed wellbeing programme in psychiatry training programmes. Future research could measure efficacy of this online programme by utilising pre- and post-outcome measures of dispositional mindfulness and stress.

Prioritising a culturally safe e-Mental Health research agenda in Aotearoa New Zealand: A sector survey report.

OBJECTIVE: To collect mental health and addiction service providers' opinions about priorities for an e-Mental Health (eMH) research agenda focused on delivering culturally safe eMH in Aotearoa New Zealand. METHOD: Service providers were recruited to participate in an anonymous online survey, which asked participants to rate the importance of potential research domains and items on a continuous scale from 1 to 10. The mean values of each item were normalised to develop a priority index. RESULTS: 48 participants rated at least one of the listed research items. The highest-rated items were (i) identifying strategies to improve access; co-developing eMH with the community (ii) a set of competencies required for delivering culturally safe care, (iii) a set of meaningful clinical outcomes that can be achieved via eMH, (iv) guidelines for the delivery of eMH services and (v) investigating the extent to which eMH could meet the mental health needs of these communities. 'Standards and guidelines' was the domain with the highest priority index. CONCLUSIONS: Mental health and addiction service providers in Aotearoa New Zealand prioritised an eMH research agenda that is focused on pro-equity outcomes and incorporating the voices and experiences of the communities they seek to serve.

Frequency of carriers for rare recessive Mendelian diseases in a Brazilian cohort of 320 patients.

Several Mendelian disorders follow an autosomal recessive inheritance pattern. Epidemiological information on many inherited disorders may be useful to guide health policies for rare diseases, but it is often inadequate, particularly in developing countries. We aimed to calculate the carrier frequencies of rare autosomal recessive Mendelian diseases in a cohort of Brazilian patients using whole exome sequencing (WES). We reviewed the molecular findings of WES from 320 symptomatic patients who had carrier status for recessive diseases. Using the Hardy-Weinberg equation, we estimated recessive disease frequencies (q2 ) considering the respective carrier frequencies (2pq) observed in our study. We calculated the sensitivity of carrier screening tests based on lists of genes from five different clinical laboratories that offer them in Brazil. A total of 425 occurrences of 351 rare variants were reported in 278 different genes from 230 patients (71.9%). Almost half (48.8%) were carriers of at least one heterozygous pathogenic/likely pathogenic variant for rare metabolic disorders, while 25.9% of epilepsy, 18.1% of intellectual disabilities, 15.6% of skeletal disorders, 10.9% immune disorders, and 9.1% of hearing loss. We estimated that an average of 67% of the variants would not have been detected by carrier screening panels. The combined frequencies of autosomal recessive diseases were estimated to be 26.39/10,000 (or ~0.26%). This study shows the potential research utility of WES to determine carrier status, which may be a possible strategy to evaluate the clinical and social burden of recessive diseases at the population level and guide the optimization of carrier screening panels.

Factors influencing the negotiation of ethnic identity among 1.5 and second-generation Asian migrants: A mixed methods systematic review.

INTRODUCTION: Whilst positive ethnic identity is associated with higher self-esteem, prosocial tendencies and peer acceptance, it is inversely associated with depressive symptoms and drug use among ethnic minority individuals. Negotiating ethnic identity is particularly challenging for 1.5-and second-generation migrant populations, finding themselves positioned between host culture and culture of origin. To inform positive youth development policies and practices, this systematic literature review aimed to identify factors influencing the negotiation of ethnic identity for 1.5-and second-generation Asian migrants living in high-income countries. METHODS: A mixed-methods systematic review was conducted of peer-reviewed literature in four databases: MEDLINE, EMBASE, PsychInfo and Scopus. Articles were screened by title, abstract and full text to ascertain whether they met the inclusion criteria. Quality of studies were assessed using MMAT Version 2011. Mixed-method thematic analysis was used to synthesis the data according to Bronfenbrenner's Ecological Model. RESULTS: Forty-seven studies met the inclusion criteria. The review findings confirm a wide range of factors influencing the negotiation of ethnic identity from three systems in Bronfenbrenner's Ecological Model, most commonly from the macrosystem (e.g stereotyping), followed by microsystem (e.g family) and individual factors (e.g heritage language use). CONCLUSIONS: Results indicate negotiating ethnic identity can be challenging and difficult, where the culture/norms of country of origin and host country play a significant role. Positive youth development policies and practices need to reflect these wide range of factors. More research is needed in countries where data is not available to facilitate greater response to needs of this increasing population group.

Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases.

Next-generation sequencing (NGS) has altered clinical genetic testing by widening the access to molecular diagnosis of genetically determined rare diseases. However, physicians may face difficulties selecting the best diagnostic approach. Our goal is to estimate the rate of possible molecular diagnoses missed by different targeted gene panels using data from a cohort of patients with rare genetic diseases diagnosed with exome sequencing (ES). For this purpose, we simulated a comparison between different targeted gene panels and ES: the list of genes harboring clinically relevant variants from 158 patients was used to estimate the theoretical rate of diagnoses missed by NGS panels from 53 different NGS panels from eight different laboratories. Panels presented a mean rate of missed diagnoses of 64% (range 14%-100%) compared to ES, representing an average predicted sensitivity of 36%. Metabolic abnormalities represented the group with highest mean of missed diagnoses (86%), while seizure represented the group with lowest mean (46%). Focused gene panels are restricted in covering select sets of genes implicated in specific diseases and they may miss molecular diagnoses of rare diseases compared to ES. However, their role in genetic diagnosis remains important especially for well-known genetic diseases with established genetic locus heterogeneity.

COVID-19 related mental health issues: a narrative review of psychometric properties of scales and methodological concerns in scale development.

OBJECTIVES: The global crisis of COVID-19 and its consequential strict public health measures placed around the world have impacted mental health. New scales and tools have been developed to measure these mental health effects. This narrative review assesses the psychometric properties of these scales and tools and methodological aspects of their development. METHODS: PubMed, PubMed Central, and Google Scholar were searched for articles published from 15 May 2020 to 15 August 2020. This search used three groups of terms ("tool" OR "scale" AND "mental" OR "psychological"; AND "COVID-19" OR "coronavirus"). The identified scales were further evaluated for their psychometric properties and methodological aspects of their development. RESULTS: Though the studies developing these scales (n = 12) have demonstrated their robust psychometric properties, some methodological concerns are noteworthy. Most of the scales were validated using internet-based surveys, and detailed descriptions of the mode of administration, sampling process, response rates, and augmentation strategies were missing. CONCLUSIONS: The heterogeneous and inadequate reporting of methods adopted to evaluate the psychometric properties of the identified scales can limit their utility in clinical and research settings. We suggest developing guidelines and checklists to improve the design and testing, and result in reporting of online-administered scales to assess the mental health effects of the COVID-19 pandemic.

Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases.

Rare diseases comprise a diverse group of conditions, most of which involve genetic causes. We describe the variable spectrum of findings and clinical impacts of exome sequencing (ES) in a cohort of 500 patients with rare diseases. In total, 164 primary findings were reported in 158 patients, representing an overall diagnostic yield of 31.6%. Most of the findings (61.6%) corresponded to autosomal dominant conditions, followed by autosomal recessive (25.6%) and X-linked (12.8%) conditions. These patients harbored 195 variants, among which 43.6% are novel in the literature. The rate of molecular diagnosis was considerably higher for prenatal samples (67%; 4/6), younger children (44%; 24/55), consanguinity (50%; 3/6), gastrointestinal/liver disease (44%; 16/36) and syndromic/malformative conditions (41%; 72/175). For 15.6% of the cohort patients, we observed a direct potential for the redirection of care with targeted therapy, tumor screening, medication adjustment and monitoring for disease-specific complications. Secondary findings were reported in 37 patients (7.4%). Based on cost-effectiveness studies in the literature, we speculate that the reports of secondary findings may influence an increase of 123.2 years in the life expectancy for our cohort, or 0.246 years/cohort patient. ES is a powerful method to identify the molecular bases of monogenic disorders and redirect clinical care.

Alcohol consumption and alcohol-related problems during the COVID-19 pandemic: a narrative review.

OBJECTIVE: To summarise publications reporting on alcohol consumption and alcohol-related problems during the Coronavirus disease 2019 (COVID-19) pandemic in a narrative review. METHODS: ProQuest, Web of Science and Google Scholar were searched for articles published in 2020. This search used two terms: 'alcohol' and 'COVID'. Reference lists of articles were reviewed to identify additional articles. RESULTS: There is growing concern around an increase in alcohol intake and alcohol-related harms. These concerns are related to the impact of excessive alcohol consumption in a person with COVID-19 and/or with alcohol use disorder, as well as with a potential increase in the prevalence of harmful drinking, alcohol use disorder, withdrawal symptoms, intimate partner violence, harm to children, suicide, mental health problems and non-communicable diseases. The need for assessing alcohol use and providing adequate advice during the pandemic have been highlighted. CONCLUSION: The time for action is now, and all necessary measures to prevent an increase in alcohol-related problems should be adopted. At the same time, healthcare services should also prepare for such potential increase, while adapting to the exceptional circumstances presented by the pandemic, such as physical distancing.

BRCA1 deficiency is a recurrent event in early-onset triple-negative breast cancer: a comprehensive analysis of germline mutations and somatic promoter methylation.

PURPOSE: BRCA1 germline mutation is closely associated with triple-negative breast cancer. BRCA deficiency leads to impaired DNA repair and tumor development, and understanding this deficiency, in both hereditary and sporadic scenarios, is of great clinical and biological interest. Here, we investigated germline or somatic events that might lead to BRCA1 impairment in triple-negative breast cancer. We also analyzed the clinical implications associated with BRCA deficiency. METHODS: Next-generation sequencing for the BRCA1/2 genes and multiplex ligation-dependent probe amplification (MLPA) for the BRCA1 gene were performed for mutation screening. A customized bisulfite next-generation sequencing approach was used for assessing BRCA1 promoter methylation status in tumor tissue. RESULTS: A total of 131 triple-negative cases were assessed, and germline pathogenic variants were detected in 13.0% of all cases and in 26% of cases diagnosed in young women. Most germline pathogenic variants (88.2%) occurred in the BRCA1 gene. BRCA1 promoter hypermethylation was detected in 20.6% of tumors; none of these tumors were in BRCA1/2 pathogenic variant carriers. BRCA1 impairment by either germline or somatic events was significantly more frequent in young women (55% in those ≤ 40 years; 33% in those 41-50 years; 22% in those > 50 years of age) and associated with better overall and disease-free survival rates in this group of patients. CONCLUSIONS: BRCA1 deficiency was recurrent in early-onset triple-negative breast cancer in Brazilian patients and associated with improved survival. With the new treatment modalities being investigated, including poly (ADP-ribose)-polymerase (PARP) inhibitor therapy, our results suggest that a significant proportion of young women with this subtype of tumor might benefit from PARP inhibitor treatment, which warrants further investigation.

Differential DNA Methylation of MicroRNA Genes in Temporal Cortex from Alzheimer's Disease Individuals.

This study investigated for the first time the genomewide DNA methylation changes of noncoding RNA genes in the temporal cortex samples from individuals with Alzheimer's disease (AD). The methylome of 10 AD individuals and 10 age-matched controls were obtained using Illumina 450 K methylation array. A total of 2,095 among the 15,258 interrogated noncoding RNA CpG sites presented differential methylation, 161 of which were associated with miRNA genes. In particular, 10 miRNA CpG sites that were found to be hypermethylated in AD compared to control brains represent transcripts that have been previously associated with the disease. This miRNA set is predicted to target 33 coding genes from the neuregulin receptor complex (ErbB) signaling pathway, which is required for the neurons myelination process. For 6 of these miRNA genes (MIR9-1, MIR9-3, MIR181C, MIR124-1, MIR146B, and MIR451), the hypermethylation pattern is in agreement with previous results from literature that shows downregulation of miR-9, miR-181c, miR-124, miR-146b, and miR-451 in the AD brain. Our data implicate dysregulation of miRNA methylation as contributor to the pathogenesis of AD.

Child sexual abuse, mental health, and legislation in India and Thailand: A cross-country comparison.

INTRODUCTION: Child sexual abuse (CSA) is a serious public health issue in India and Thailand. To identify potential barriers for addressing CSA in these countries, it is necessary to explore and compare research, laws, and policies in these two countries. MATERIAL AND METHODS: The Scopus and PubMed databases were searched for published literature on "Child Sexual Abuse" AND "India" OR "Thailand" concerning research focus, prevalence, factors, and policies or interventions on CSA. Main legislations related to CSA were compared using a predefined outline. Additionally, authors compared and analysed current legislation in relation to the United Nations Convention on the Rights of the Child (UNCRC). RESULTS: Published literature (n = 64) included original articles (n = 26), reviews (n = 36), editorials or letters to the editor (n = 2). No collaboration on CSA between the two countries was found. Several differences in the main legislation (e.g., punishment, services) of India and Thailand were observed, both between countries and in relation to the UNCRC. CONCLUSION: Our findings suggest that CSA is mostly under-researched in both countries in terms of services, policy and legislation. There is a need for cross-country, multidisciplinary, and collaborative research on CSA in both India and Thailand.

Dying well in Aotearoa New Zealand for ethnic minority communities: a time for reclamation?

Despite technological advances and a disproportionate increase in health expenditure at the end-of-life, most New Zealanders die in hospital or in aged residential care. This counters the aspirations espoused by Te Whatu Ora (Health New Zealand) for all New Zealanders "to live well, age well and die well in their homes and communities." Furthermore, despite reported inequities in end-of-life care experienced by ethnic minority communities (EMCs) overseas, and increasing proportions of people identifying with Asian, Middle Eastern, Latin American and African ethnicities in Aotearoa New Zealand, local data, research and policies addressing healthcare needs of EMCs at end-of-life are scant. Acknowledging this invisibility, we reflect on and discuss the current discourses on death and dying, the complex experiences at end-of-life for EMCs, including concepts of a "good death", the impact of recent existential crises (e.g., COVID-19 pandemic, climate change) on death awareness, and the global rise to reclaim dying as an important part of living. We argue for the need: a) to partner with ethnic communities to co-design culturally safe end-of-life health services, and b) to adopt a "compassionate communities" public health approach that can support people of EMCs at the end-of-life to die well.

Alert for the high prevalence of vitamin D deficiency in adolescents in a large Brazilian sample.

OBJECTIVE: To estimate the prevalence of vitamin D deficiency and severe deficiency in children and adolescents, in a large Brazilian sample. METHODOLOGY: Results of 413,988 25(OH)D measurements in children and adolescents aged 0 to 18 years collected between 01/2014 and 10/2018 were obtained from the database of a Clinical Laboratory. In this population, 25 hydroxyvitamin D concentrations below 20 ng/mL are considered deficient, and below 12 ng/mL as severe deficiency. All measurements were performed by immunoassay and the results were distributed by gender, age group, seasonality, and latitude. RESULTS: The mean of 25(OH)D levels was 29.2 ng/mL with a standard deviation of 9.2 ng/mL. Of the total samples, 0.8% had a concentration < 12 ng/mL, and 12.5% of the samples had a concentration < 20 ng/mL, with a higher prevalence in females. Children under 2 years of age had the lowest prevalence. The effects of latitude and seasonality were quite evident. In samples of female adolescents from the southern region in winter, 36% of vitamin D deficiency and 5% of severe deficiency were found. CONCLUSION: In this large number of measurements of 25(OH)D in children and adolescents, 12.5% had a deficiency and 0.8% had severe deficiency. A greater deficiency was observed among adolescents, especially females, which raises questions about the need for supplementation during this period of life.

Testing for natural selection in human exonic splicing regulators associated with evolutionary rate shifts.

Despite evidence that at the interspecific scale, exonic splicing silencers (ESSs) are under negative selection in constitutive exons, little is known about the effects of slightly deleterious polymorphisms on these splicing regulators. Through the application of a modified version of the McDonald-Kreitman test, we compared the normalized proportions of human polymorphisms and human/rhesus substitutions affecting exonic splicing regulators (ESRs) on sequences of constitutive and alternative exons. Our results show a depletion of substitutions and an enrichment of SNPs associated with ESS gain in constitutive exons. Moreover, we show that this evolutionary pattern is also present in a set of ESRs previously involved in the transition from constitutive to skipped exons in the mammalian lineage. The similarity between these two sets of ESRs suggests that the transition from constitutive to skipped exons in mammals is more frequently associated with the inhibition than with the promotion of splicing signals. This is in accordance with the hypothesis of a constitutive origin of exon skipping and corroborates previous findings about the antagonistic role of certain exonic splicing enhancers.