Background: Oliver–McFarlane syndrome is characterised by trichomegaly, congenital hypopituitarism and retinal degeneration with choroidal atrophy. Laurence–Moon syndrome presents similarly, though with progressive spinocerebellar ataxia and spastic paraplegia and without trichomegaly. Both recessively inherited disorders have no known genetic cause. Methods: Whole-exome sequencing was performed to identify the genetic causes of these disorders. Mutations were functionally validated in zebrafish pnpla6 morphants. Embryonic expression was evaluated via in situ hybridisation in human embryonic sections. Human neurohistopathology was performed to characterise cerebellar degeneration. Enzymatic activities were measured in patient-derived fibroblast cell lines. Results: Eight mutations in six families with Oliver–McFarlane or Laurence–Moon syndrome were identified in the PNPLA6 gene, which encodes neuropathy target esterase (NTE). PNPLA6 expression was found in the developing human eye, pituitary and brain. In zebrafish, the pnpla6 curly-tailed morphant phenotype was fully rescued by wild-type human PNPLA6 mRNA and not by mutation-harbouring mRNAs. NTE enzymatic activity was significantly reduced in fibroblast cells derived from individuals with Oliver–McFarlane syndrome. Intriguingly, adult brain histology from a patient with highly overlapping features of Oliver–McFarlane and Laurence–Moon syndromes revealed extensive cerebellar degeneration and atrophy. Conclusions: Previously, PNPLA6 mutations have been associated with spastic paraplegia type 39, Gordon–Holmes syndrome and Boucher–Neuhäuser syndromes. Discovery of these additional PNPLA6-opathies further elucidates a spectrum of neurodevelopmental and neurodegenerative disorders associated with NTE impairment and suggests a unifying mechanism with diagnostic and prognostic importance.

In the COVID-19 pandemic caused by SARS-CoV-2, hospitals are often stretched beyond capacity. There are widespread reports of dwindling supplies of personal protective equipment (PPE), particularly N95-type filtering facepiece respirators (FFRs), which are paramount to protect frontline medical/nursing staff, and to minimize further spread of the virus. We carried out a rapid review to summarize the existing literature on the viability of SARS-CoV-2, the efficacy of key potential disinfection procedures against the virus (specifically ultraviolet light and heat), and the impact of these procedures on FFR performance, material integrity, and/or fit. In light of the recent discovery of SARS-CoV-2 and limited associated research, our review also focused on the closely related SARS-CoV-1. We propose a possible whole-of-PPE disinfection solution for potential reuse that could be rapidly instituted in many health care settings, without significant investments in equipment.

Child obesity internationally has been identified as one of the major threats to future population health. Indigenous people and those from lower socio-economic backgrounds are over-represented in obesity statistics. There is a need for evidence of effect of interventions for child obesity with long-term follow-up. Whether engaging with those that are more motivated to make lifestyle changes is a useful strategy has not been fully explored. We hypothesise that in obese/overweight children, assessed as psychologically “ready for change”, delivery of a 12-month multi-disciplinary intervention programme results in a significant reduction in body mass index standard deviation score. Whanau Pakari is an unblinded randomised controlled clinical trial comparing a 12 month intervention programme with standard practice, with 6 monthly assessments for 2 years, conducted in Taranaki, New Zealand (a region where 15.8 % of the population are indigenous). It specifically targets indigenous people and those in more deprived households. Obese/overweight children and adolescents aged 5–16 years are eligible. Exclusion criteria are medical/psychological conditions leading to inability to undertake physical activity/participate in group sessions; those not “ready” to make lifestyle changes; and those without a committed family member. Assessments of health parameters, dietary history, physical activity and overall health-related quality of life/psychological functioning are completed in the participant’s home. Fasting blood tests are obtained at baseline, 12 and 24 months. The primary outcome is body mass index standard deviation score. Secondary outcomes include quality of life, dietary behaviour and physical activity, cardiovascular and metabolic profile (blood pressure, resting heart rate, waist circumference), glycaemic control (fasting glucose and glycated Haemoglobin), fasting insulin, and lipids. A general linear mixed model will be used to assess change from baseline using the 6, 12, 18 and 24 month measures, adjusting for age, gender, socioeconomic status and ethnicity, and whether at the contemplative or preparation/action stages of readiness for change. This trial will inform the development of management programmes for obese children and adolescents that are appropriate for indigenous populations. It will investigate whether those at the preparation/action stage of “readiness” to make lifestyle changes are more successful in making changes than those who are contemplative. Australian New Zealand Clinical Trials Registry (ANZCTR): 12611000862943 . (Date registered 15/08/2011).

Objective: To report 12‐month outcomes from a multidisciplinary child obesity intervention program, targeting high‐risk groups.Methods: In this unblinded randomized controlled trial, participants (recruited January 2012‐August 2014) were aged 5 to 16 years, resided in Taranaki, Aotearoa/New Zealand, and had BMI ≥ 98th percentile or BMI > 91st percentile with weight‐related comorbidities. Randomization was by minimization (age and ethnicity), with participants assigned to an intense intervention group (home‐based assessments at 6‐month intervals and a 12‐month multidisciplinary program with weekly group sessions) or to a minimal‐intensity control group with home‐based assessments and advice at each 6‐month follow‐up. The primary outcome was the change in BMI standard deviation score (SDS) at 12 months from baseline. A mixed model analysis was undertaken, incorporating all 6‐ and 12‐month data.Results: Two hundred and three children were randomly assigned (47% Māori, 43% New Zealand European, 53% female, 28% from the most deprived quintile, mean age 10.7 years, mean BMI SDS 3.12). Both groups displayed a change in BMI SDS at 12 months from baseline (−0.12 control, −0.10 intervention), improvements in cardiovascular fitness (P < 0.0001), and improvements in quality of life (P < 0.001). Achieving ≥ 70% attendance in the intense intervention group resulted in a change in BMI SDS of −0.22.Conclusions: This program achieved a high recruitment of target groups and a high rate of BMI SDS reduction, irrespective of intervention intensity. If retention is optimized, the intensive program doubles its effect.

Objective: To describe health-related quality of life (HRQOL) and psychological well-being of children and adolescents at enrolment in a multidisciplinary community-based obesity programme and to determine association with ethnicity. This programme targeted indigenous people and those from most deprived households. Further, this cohort was compared with other populations/normative data. Methods: This study examines baseline demographic data of an unblinded randomised controlled clinical trial. Participants (recruited from January 2012-August 2014) resided in Taranaki, New Zealand, and for this study we only included those with a body mass index (BMI) ≥98th percentile (obese). HRQOL and psychological well-being were assessed using the Pediatric Quality of Life Inventory (PedsQL V.4.0 ^TM ) (parent and child reports), and Achenbach’s Child Behavior Checklist (CBCL)/Youth Self Report (YSR). Results: Assessments were undertaken for 233 participants (45% Māori, 45% New Zealand European, 10% other ethnicities, 52% female, 30% from the most deprived household quintile), mean age 10.6 years. The mean BMI SD score (SDS) was 3.12 (range 2.01–5.34). Total PedsQL generic scaled score (parent) was lower (mean=63.4, SD 14.0) than an age-matched group of Australian children without obesity from the Health of Young Victorians study (mean=83.1, SD 12.5). In multivariable models, child and parental generic scaled scores decreased in older children (β=−0.70 and p=0.031, β=−0.64 and p=0.047, respectively). Behavioural difficulties (CBCL/YSR total score) were reported in 43.5% of participants, with the rate of emotional/behavioural difficulties six times higher than reported norms (p<0.001). Conclusions: In this cohort, children and adolescents with obesity had a low HRQOL, and a concerning level of psychological difficulties, irrespective of ethnicity. Obesity itself rather than ethnicity or deprivation appeared to contribute to lower HRQOL scores. This study highlights the importance of psychologist involvement in obesity intervention programmes. Trial registration number: Australian NZ Clinical Trials Registry ANZCTR 12611000862943; Pre-results.

We aimed to describe physical activity and sedentary behaviour of obese children and adolescents in Taranaki, New Zealand, and to determine how these differ in Māori (indigenous) versus non-indigenous children. Participants (n = 239; 45% Māori, 45% New Zealand European [NZE], 10% other ethnicities) aged 4.8–16.8 years enrolled in a community-based obesity programme from January 2012 to August 2014 who had a body mass index (BMI) ≥ 98^th percentile (n = 233) or >91^st–98^th percentile with weight-related comorbidities (n = 6) were assessed. Baseline activity levels were assessed using the children’s physical activity questionnaire (C-PAQ), a fitness test, and ≥3 days of accelerometer wear. Average BMI standard deviation score was 3.09 (SD = 0.60, range 1.52–5.34 SDS). Reported median daily activity was 80 minutes (IQR = 88). Although 44% of the cohort met the national recommended screen time of <2 hours per day, the mean screen time was longer at 165 minutes (SD = 135). Accelerometer data (n = 130) showed low physical activity time (median 34 minutes [IQR = 29]). Only 18.5% of the total cohort met national recommended physical activity guidelines of 60 minutes per day. There were minimal ethnic differences. In conclusion, obese children/adolescents in this cohort had low levels of physical activity. The vast majority are not meeting national physical activity recommendations.