L-carnitine supplementation for muscle weakness and fatigue in children with neurofibromatosis type 1: A Phase 2a clinical trial.

Reduced muscle tone, muscle weakness, and physical fatigue can impact considerably on quality of life for children with neurofibromatosis type 1 (NF1). Human muscle biopsies and mouse models of NF1 deficiency in muscle show intramyocellular lipid accumulation, and preclinical data have indicated that L-carnitine supplementation can ameliorate this phenotype. The aim of this study is to examine whether daily L-carnitine supplementation is safe and feasible, and will improve muscle strength and reduce fatigue in children with NF1. A 12-week Phase 2a trial was conducted using 1000 mg daily oral levocarnitine tartrate supplementation. Recruited children were between 8 and 12 years old with a clinical diagnosis of NF1, history of muscle weakness and fatigue, and naïve to L-carnitine. Primary outcomes were safety (self-reporting, biochemical testing) and compliance. Secondary outcomes included plasma acylcarnitine profiles, functional measures (muscle strength, long jump, handwriting speed, 6-minute-walk test [6MWT]), and parent-reported questionnaires (PedsQL™, CBCL/6-18). Six children completed the trial with no self-reported adverse events. Biochemical tests for kidney and liver function were normal, and the average compliance was 95%. Plasma acylcarnitine levels were low, but within a range not clinically linked to carnitine deficiency. For strength measures, there was a mean 53% increase in dorsiflexion strength (95% confidence interval [CI] 8.89-60.75; p = 0.02) and mean 66% increase in plantarflexion strength (95% CI 12.99-134.1; p = 0.03). In terms of muscle performance, there was a mean 10% increase in long jump distance (95% CI 2.97-16.03; p = 0.01) and 6MWT distance (95% CI 5.88-75.45; p = 0.03). Comparison with the 1000 Norms Project data showed a significant improvement in Z-score for all of these measures. Parent reports showed no negative impact on quality of life, and the perceived benefits led to the majority of individuals remaining on L-carnitine after the study. Twelve weeks of L-carnitine supplementation is safe and feasible in children with NF1, and a Phase 3 trial should confirm the efficacy of treatment.

Primary care doctor and nurse utilisation rates for billed consultations across the Comprehensive Care Primary Health Organisation.

AIM: To examine socio-demographic trends in doctor and nurse utilisation rates for invoiced consultations across Comprehensive Care Primary Health Organisation (PHO). METHOD: De-identified enrolled patient information and Service Utilisation Reporting data for invoiced consultations were extracted from all general practices for January 2013-December 2016. Utilisation rates were calculated using the number of enrolled patients as the denominator. RESULTS: Data for 3,657,873 invoiced consultations across 66 general practices were analysed, including 2,941,624 doctor and 716,249 nurse consultations. Average utilisation rates were 3.1 visits per patient year for doctors and 0.7 visits for nurses, with considerable variability between practices. Utilisation rates were higher for females (3.3 visits for doctors; 0.8 for nurses), older adults (5.0-6.9; 1.3-1.6 visits) and patients residing in the most socially deprived quintile (3.3; 1.6 visits). European patients had the highest doctor utilisation rates (3.2 visits), while Maori and Pacific patients had the highest nurse utilisation rates (1.1 and 1.3 visits, respectively). CONCLUSION: Females, older adults and people residing in socially deprived areas utilise primary care more frequently according to invoiced consultation data. Analysis of all other consultations, including immunisations, Accident Corporation Claims and non-billed services is needed to more accurately capture utilisation rates, particularly for nurses, to better inform national decision-making, workforce planning and funding assumptions.

Maori lived experience of osteoarthritis: a qualitative study guided by Kaupapa Maori principles.

INTRODUCTION Osteoarthritis adversely affects people's quality of life; however, the effects of osteoarthritis on Maori in New Zealand remain unknown. AIM To explore the Maori lived experience of osteoarthritis. METHODS A qualitative study guided by Kaupapa Maori principles. Maori adults (≥30 years) with clinical knee or hip osteoarthritis took part in semi-structured interviews that were recorded and transcribed. Thematic analysis and a model of Maori health (Te Whare Tapa Wha, outlining four dimensions of wellbeing (taha tinana- physical; taha hinengaro- mental; taha wairua- spiritual; and taha whanau- family)) were used to analyse data. RESULTS Seven Maori females aged 44-71 years participated. Physical manifestations of osteoarthritis, namely pain and limited daily activities, affected mental, spiritual and family wellbeing. Participants experienced whakama (shame) and frustration. Cultural duties such as attending the marae were impeded, affecting spiritual wellbeing and cultural identity. Participants described drawing on the strength of their ancestors to cope with their impairments. Western medicine was commonly used, although side-effects were prominent and few participants had received information about the condition from health professionals. Both positive and negative experiences of health-care and treatments were reported. DISCUSSION Osteoarthritis inflicts a substantial burden on the physical, mental, spiritual and family wellbeing of Maori women. Primary care practitioners must consider spiritual and family wellbeing when providing care for Maori with osteoarthritis. Culturally sensitive education for patients and their whanau is needed.