Search Results (8)

Māori, the Indigenous people of Aotearoa New Zealand, experience wide-ranging inequities compared with non-Māori. This survey aimed to explore the holistic health, wellbeing, and disability experiences of New Zealand’s Indigenous Māori population from a Māori worldview, addressing gaps in culturally relevant data often overlooked by standard health surveys. A robust cross-sectional survey was conducted with 7359 participants of Māori descent using Kaupapa Māori Research principles. Data were analysed using the Te Pae Māhutonga framework, a Māori health promotion model. Participants demonstrated strong cultural identity, with 32.3% understanding spoken Māori fairly well and 97.3% defining a broad non-nuclear concept of whānau (family). While over half reported high life satisfaction, 58.4% experienced discrimination, mainly based on ethnicity and appearance. Access to healthcare revealed that 32.6% were unable to contact a general practitioner due to cost. Socioeconomic challenges were prevalent; nearly a quarter borrowed from family or friends to meet daily living costs, and over a third economized on fresh produce to save money. This study reveals significant gaps in mainstream health data and demonstrates that a culturally aligned, methodological approach is feasible and crucial for informing policies that address the needs and rights of Māori, as guaranteed under Te Tiriti o Waitangi. These results could inform global, indigenous research addressing culturally relevant health, wellbeing and disability inequities. Full article

Proteomics studies often explore phenotypic differences between whole organs and systems. Within the heart, more subtle variation exists. To date, differences in the underlying proteome are only described between whole cardiac chambers. This study, using the bovine heart as a model, investigates inter-regional differences and assesses the feasibility of measuring detailed, cross-tissue variance in the cardiac proteome. Using a bovine heart, we created a two-dimensional section through a plane going through two chambers. This plane was further sectioned into 4 × 4 mm cubes and analysed using label-free proteomics. We identified three distinct proteomes. When mapped to the extracted sections, the proteomes corresponded largely to the outer wall of the right ventricle and secondly to the outer wall of the left ventricle, right atrial appendage, tricuspid and mitral valves, modulator band, and parts of the left atrium. The third separate proteome corresponded to the inner walls of the left and right ventricles, septum, and left atrial appendage. Differential protein abundancies indicated differences in energy metabolism between regions. Data analyses of the mitochondrial proteins revealed a variable pattern of abundances of complexes I–V between the proteomes, indicating differences in the bioenergetics of the different cardiac sub-proteomes. Mapping of disease-associated proteins interestingly showed desmoglein-2, for which defects in this protein are known to cause Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, which was present predominantly in the outer wall of the left ventricle. This study highlights that organs can have variable proteomes that do not necessarily correspond to anatomical features. Full article

Multi-sensory environments (MSEs) are specialised spaces purposely designed to stimulate the senses, whilst providing a calming and relaxing environment for leisure and enjoyment, predominantly intended for disabled people. Most MSEs are in institutions, hospitals, or educational settings, with a few in community-based settings. We explored disabled users’ experiences of a community based MSE in a large metropolitan area in New Zealand, with a view to expanding access to MSE-type environments within the area. We used a convergent mixed method design with a web-based electronic survey (e-survey; n = 105), as well as semi-structured interviews (n = 14) with disabled MSE users (adults and children), who were supported, where necessary, by their support person/s. We collected the MSE users’ demographics, frequency of use with respect to age, disability, and ethnicity, and experiences of the room, equipment, and accessibility. The participants and their support persons’ perspectives about their experiences of using the MSE were represented by four themes: (i) Self-determination; (ii) Enhancing wellbeing opportunities; (iii) the MSE itself; (iv) Accessibility. While the MSE was considered positively, the MSE experience could be enhanced by addressing access challenges and broadening the scope of equipment to improve the usability and make it a more inclusive environment for all. Full article

Fabry Disease (FD) is a rare, X-linked, lysosomal storage disease that mainly causes renal, cardiac and cerebral complications. Enzyme replacement therapy (ERT) with recombinant alpha-galactosidase A is available, but approximately 50% of male patients with classical FD develop inhibiting anti-drug antibodies (iADAs) that lead to reduced biochemical responses and an accelerated loss of renal function. Once immunization has occurred, iADAs tend to persist and tolerization is hard to achieve. Here we developed a pre-treatment prediction model for iADA development in FD using existing data from 120 classical male FD patients from three European centers, treated with ERT. We found that nonsense and frameshift mutations in the α-galactosidase A gene (p = 0.05), higher plasma lysoGb3 at baseline (p < 0.001) and agalsidase beta as first treatment (p = 0.006) were significantly associated with iADA development. Prediction performance of a Random Forest model, using multiple variables (AUC-ROC: 0.77) was compared to a logistic regression (LR) model using the three significantly associated variables (AUC-ROC: 0.77). The LR model can be used to determine iADA risk in individual FD patients prior to treatment initiation. This helps to determine in which patients adjusted treatment and/or immunomodulatory regimes may be considered to minimize iADA development risk. Full article

Arrhythmogenic Cardiomyopathy (AC) is a clinically and genetically heterogeneous myocardial disease. Half of AC patients harbour private desmosomal gene variants. Although microRNAs (miRNAs) have emerged as key regulator molecules in cardiovascular diseases and their involvement, correlated to phenotypic variability or to non-invasive biomarkers, has been advanced also in AC, no data are available in larger disease cohorts. Here, we propose the largest AC cohort unbiased by technical and biological factors. MiRNA profiling on nine right ventricular tissue, nine blood samples of AC patients, and four controls highlighted 10 differentially expressed miRNAs in common. Six of these were validated in a 90-AC patient cohort independent from genetic status: miR-122-5p, miR-133a-3p, miR-133b, miR-142-3p, miR-182-5p, and miR-183-5p. This six-miRNA set showed high discriminatory diagnostic power in AC patients when compared to controls (AUC-0.995), non-affected family members of AC probands carrying a desmosomal pathogenic variant (AUC-0.825), and other cardiomyopathy groups (Hypertrophic Cardiomyopathy: AUC-0.804, Dilated Cardiomyopathy: AUC-0.917, Brugada Syndrome: AUC-0.981, myocarditis: AUC-0.978). AC-related signalling pathways were targeted by this set of miRNAs. A unique set of six-miRNAs was found both in heart-tissue and blood samples of AC probands, supporting its involvement in disease pathogenesis and its possible role as a non-invasive AC diagnostic biomarker. Full article

Restrictive cardiomyopathy (RCM) is defined on the basis of the haemodynamic finding of restrictive ventricular physiology. However, restrictive ventricular pathophysiology is also a feature of other subtypes of cardiomyopathy, including hypertrophic cardiomyopathy (HCM). Clinically and aetiologically, there is an overlap between RCM and HCM with restrictive physiology. However, the clinical distinction between these two entities can be an important pointer towards the underlying aetiology. This review highlights the importance of the recognition of the clinical phenotype as the first step in the classification of cardiomyopathies. Full article