Tangihanga: The ultimate form of Māori cultural expression - overview of a research programme

Death, observed through the process of tangihanga (time set aside to grieve and mourn, rites for the dead) or tangi (to grieve and mourn), is the ultimate form of Māori cultural expression. It is also the topic least studied by Māori or understood by outsiders, even after televised funeral rites of Māori leaders and intrusive media engagements with more humble family crises. It has prevailed as a cultural priority since earliest European contact, despite missionary and colonial impact and interference, and macabre Victorian fascination. Change is speculative rather than confirmed. Tangi and death rituals have yet to be rigorously examined in the Māori oral canon, or in the archival and historic record that may be discarded or reinforced by current practice. As researchers we are committed to studying tangi, conscious of the belief that such work carries the inherent risk of karanga aituā (inviting misfortune or even death itself) by drawing attention to it. Contemporary Aotearoa New Zealand is constantly touched by aspects of tangi practice through popular media and personal exposure. This volatile subject nevertheless demands careful and comprehensive scrutiny in order to extend and enrich the knowledge base, reveal the logic that guides ritual, inform the wider New Zealand community and, more importantly, support the cultural, social, ritual, economic and decision making processes of bereaved whānau (family, including extended family), people affiliated with marae (communal meeting complex) and iwi (tribe, tribal). This paper provides an overview of a research programme that began in July 2009, based at The University of Waikato. The programme is funded by Ngā Pae o te Māramatanga, the Marsden Fund of New Zealand and the Health Research Council of New Zealand

Repair of a wide sternal cleft in a young female

AbstractSternal clefts are rare congenital malformations of the anterior chest wall. Surgical correction is typically recommended as early as possible due to the compliance and growth potential of the infant sternum. Several operative techniques have been employed with great success. However, there is a paucity of data regarding repair in large clefts refractory to standard reparative techniques. We report the successful surgical repair in a 15-month-old female with an excessively large, superior sternal cleft

Criteria for the Hiring and Retention of Visual Resources Professionals

Criteria for the hiring of visual resources professionals adopted by both the Visual Resources Association and the Art Libraries Association of North America. Available in English, French, and Spanish

A holistic approach to well-being and neglected tropical diseases: evaluating the impact of community-led support groups in Nigeria using community-based participatory research

Background: Neglected tropical diseases (NTDs) affect around 1 billion people, many living in the poorest parts of the world. NTDs often lead to serious long-term physical impairments. Stigma, disability, poverty and social isolation interact, resulting in poor quality of life and significant psychosocial impacts. The holistic health and psychosocial needs of persons affected by NTDs are often overlooked in integrated NTD programme design and research. Furthermore, the viewpoints of persons affected are often absent and spaces for empowerment and advocacy are limited. Methods: Using a community-based participatory research design, our study partnered with persons affected and caregivers as co-researchers to address this gap. Through the process, we co-designed and implemented community-based support groups in Kaduna and Kwara, Nigeria, where NTDs are endemic. This paper utilises photovoice with support group facilitators (persons affected); participant observation of group meetings; rapid micronarratives with support group members; and key informant interviews with programme implementers at the state and local government area levels to explore the impact of the support groups from the perspective of people affected by NTDs and other health system actors. Results: Perceived impacts of the support groups included a sense of ownership and empowerment, stigma reduction, improved self-esteem, improved health knowledge and health outcomes and capacity strengthening through vocational training. Conclusions: Support groups, as community spaces of healing, offer a low-cost holistic intervention for chronic disease and disability

Exploring the well-being of people affected by skin NTDs in Kaduna and Kwara States, Nigeria: a photovoice and scoping review study

People affected by skin neglected tropical diseases (NTDs) grapple with both physical and emotional reactions that compromise their health and well-being. Multiple studies with people affected by skin NTDs have shown high levels of poor mental well-being using self-report questionnaires or psychological measures. However, few have provided in-depth documentation of lived experiences from the perspective of affected persons and there is limited consideration of how their viewpoints can be used to shape intervention design. This article draws together findings from an international scoping review and a photovoice study conducted in Kaduna and Kwara States, Nigeria. Our combined analysis, which situates the lived realities of people affected by skin NTDs within the existing evidence base, was used to inform the design of a subsequent well-being intervention. Using Meyer's (2003) minority stress model, we have illustrated that there is a synergistic relationship between mental health, chronic morbidity and disability from skin NTDs. This relationship results from a complex interplay of factors including pain and discomfort and a reduced ability to function and participate in areas such as livelihoods, food provision and education. Stigma and discrimination act as a catalyst for these functional limitations and participation restrictions, resulting in feelings of being useless, broken, shame and sadness. The critical role of participatory methods in our study emphasises how people affected by skin NTDs have multiple coping mechanisms that can be galvanised in the provision of holistic NTD care. We recommend that NTD programmes should strengthen relationships with affected persons to identify pre-existing support platforms that can be used to support the emotional and physical health and well-being of affected persons. Working with affected persons and community actors to strengthen necessary intersectoral approaches is a first step in designing and delivering such holistic care

Prevalence and architecture of de novo mutations in developmental disorders.

The genomes of individuals with severe, undiagnosed developmental disorders are enriched in damaging de novo mutations (DNMs) in developmentally important genes. Here we have sequenced the exomes of 4,293 families containing individuals with developmental disorders, and meta-analysed these data with data from another 3,287 individuals with similar disorders. We show that the most important factors influencing the diagnostic yield of DNMs are the sex of the affected individual, the relatedness of their parents, whether close relatives are affected and the parental ages. We identified 94 genes enriched in damaging DNMs, including 14 that previously lacked compelling evidence of involvement in developmental disorders. We have also characterized the phenotypic diversity among these disorders. We estimate that 42% of our cohort carry pathogenic DNMs in coding sequences; approximately half of these DNMs disrupt gene function and the remainder result in altered protein function. We estimate that developmental disorders caused by DNMs have an average prevalence of 1 in 213 to 1 in 448 births, depending on parental age. Given current global demographics, this equates to almost 400,000 children born per year

The transcriptional landscape of age in human peripheral blood

Disease incidences increase with age, but the molecular characteristics of ageing that lead to increased disease susceptibility remain inadequately understood. Here we perform a whole-blood gene expression meta-analysis in 14,983 individuals of European ancestry (including replication) and identify 1,497 genes that are differentially expressed with chronological age. The age-associated genes do not harbor more age-associated CpG-methylation sites than other genes, but are instead enriched for the presence of potentially functional CpG-methylation sites in enhancer and insulator regions that associate with both chronological age and gene expression levels. We further used the gene expression profiles to calculate the 'transcriptomic age' of an individual, and show that differences between transcriptomic age and chronological age are associated with biological features linked to ageing, such as blood pressure, cholesterol levels, fasting glucose, and body mass index. The transcriptomic prediction model adds biological relevance and complements existing epigenetic prediction models, and can be used by others to calculate transcriptomic age in external cohorts.Peer reviewe

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker Exchange and three previously reported), and four individuals with chromosome 7q22.2-22.23 microdeletions encompassing KMT2E (one previously reported). Almost all variants occurred de novo, and most were truncating. Most affected individuals with protein-truncating variants presented with mild intellectual disability. One-quarter of individuals met criteria for autism. Additional common features include macrocephaly, hypotonia, functional gastrointestinal abnormalities, and a subtle facial gestalt. Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. More than 70% of the individuals were male, and expressivity was variable by sex; epilepsy was more common in females and autism more common in males. The four individuals with microdeletions encompassing KMT2E generally presented similarly to those with truncating variants, but the degree of developmental delay was greater. The group of four individuals with missense variants in KMT2E presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Microcephaly was also common in this group. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E might explain this divergence in phenotype, but requires independent validation. Disruptive variants in KMT2E are an under-recognized cause of neurodevelopmental abnormalities

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. Identification of causative mutations provides an important insight into common pathogenic mechanisms that cause both seizures and abnormal motor control. We report bi-allelic loss-of-function CACNA1B variants in six children from three unrelated families whose affected members present with a complex and progressive neurological syndrome. All affected individuals presented with epileptic encephalopathy, severe neurodevelopmental delay (often with regression), and a hyperkinetic movement disorder. Additional neurological features included postnatal microcephaly and hypotonia. Five children died in childhood or adolescence (mean age of death: 9 years), mainly as a result of secondary respiratory complications. CACNA1B encodes the pore-forming subunit of the pre-synaptic neuronal voltage-gated calcium channel Cav2.2/N-type, crucial for SNARE-mediated neurotransmission, particularly in the early postnatal period. Bi-allelic loss-of-function variants in CACNA1B are predicted to cause disruption of Ca2+ influx, leading to impaired synaptic neurotransmission. The resultant effect on neuronal function is likely to be important in the development of involuntary movements and epilepsy. Overall, our findings provide further evidence for the key role of Cav2.2 in normal human neurodevelopment.MAK is funded by an NIHR Research Professorship and receives funding from the Wellcome Trust, Great Ormond Street Children's Hospital Charity, and Rosetrees Trust. E.M. received funding from the Rosetrees Trust (CD-A53) and Great Ormond Street Hospital Children's Charity. K.G. received funding from Temple Street Foundation. A.M. is funded by Great Ormond Street Hospital, the National Institute for Health Research (NIHR), and Biomedical Research Centre. F.L.R. and D.G. are funded by Cambridge Biomedical Research Centre. K.C. and A.S.J. are funded by NIHR Bioresource for Rare Diseases. The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (grant number WT098051). We acknowledge support from the UK Department of Health via the NIHR comprehensive Biomedical Research Centre award to Guy's and St. Thomas' National Health Service (NHS) Foundation Trust in partnership with King's College London. This research was also supported by the NIHR Great Ormond Street Hospital Biomedical Research Centre. J.H.C. is in receipt of an NIHR Senior Investigator Award. The research team acknowledges the support of the NIHR through the Comprehensive Clinical Research Network. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR, Department of Health, or Wellcome Trust. E.R.M. acknowledges support from NIHR Cambridge Biomedical Research Centre, an NIHR Senior Investigator Award, and the University of Cambridge has received salary support in respect of E.R.M. from the NHS in the East of England through the Clinical Academic Reserve. I.E.S. is supported by the National Health and Medical Research Council of Australia (Program Grant and Practitioner Fellowship)

Whangai: remembering, understanding and experiencing

The Māori customary practice of whangai is often equated with adoption or foster care. There are, however, significant differences between the institutions. Adoption or foster care, tends to be mainly focused on the interests of the child. The institution of whangai, while being cognizant of the interests of the child, is weighted more towards establishing, nurturing and cementing relationships between individuals, families and broader relational networks. In this paper we draw on the lived experiences of six people who have been raised as whangai and/or have raised whangai. We were interested in their understanding of the cultural concept of whangai, how the customary practice of whangai has changed over time, and their projected thoughts on future generations’ experience of whangai. Findings suggest that the institution of whangai remains as a strong vehicle for both the care of children and for the nurturing of whangai kinship relationships. While participants recognised that contemporary Māori social environments have contributed toward multiple manifestations of whangai, most felt it to be an institution that will be valued and carried into the future