Making Sense of Nonprofit Collaborations

To better understand the use and success of collaborations, The Bridgespan Group, in collaboration with The Lodestar Foundation, surveyed 237 nonprofit CEOs and 101 foundation officers in 2014 on their participation in four common forms of formal collaboration: associations (including coalitions and community collaboratives), joint programs, shared support functions, and mergers (including subsidiary relationships). The survey uncovered details about their participation, as well as the barriers that block results. This report explores the findings in detail, sharing positive trends in collaboration as well as the barriers that keep nonprofits and funders from working more effectively to realize the promise of collaborations

Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis

© Author(s) (or their employer(s)) 2022. Open access This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0Hereditary transthyretin amyloidosis (ATTRv) is a severe, adult-onset autosomal dominant inherited systemic disease predominantly affecting the peripheral and autonomic nervous system, heart, kidney and the eyes. ATTRv is caused by mutations of the transthyretin (TTR) gene, leading to extracellular deposition of amyloid fibrils in multiple organs including the peripheral nervous system. Typically, the neuropathy associated with ATTRv is characterised by a rapidly progressive and disabling sensorimotor axonal neuropathy with early small-fibre involvement. Carpal tunnel syndrome and cardiac dysfunction frequently coexist as part of the ATTRv phenotype. Although awareness of ATTRv polyneuropathy among neurologists has increased, the rate of misdiagnosis remains high, resulting in significant diagnostic delays and accrued disability. A timely and definitive diagnosis is important, given the emergence of effective therapies which have revolutionised the management of transthyretin amyloidosis. TTR protein stabilisers diflunisal and tafamidis can delay the progression of the disease, if treated early in the course. Additionally, TTR gene silencing medications, patisiran and inotersen, have resulted in up to 80% reduction in TTR production, leading to stabilisation or slight improvement of peripheral neuropathy and cardiac dysfunction, as well as improvement in quality of life and functional outcomes. The considerable therapeutic advances have raised additional challenges, including optimisation of diagnostic techniques and management approaches in ATTRv neuropathy. This review highlights the key advances in the diagnostic techniques, current and emerging management strategies, and biomarker development for disease progression in ATTRv.SV gratefully acknowledges funding support from the National Health and Medical Research Council (NHMRC) of Australia (project grant numbers 510233, 1024915 and 1055778; program grant number 1132524; dementia research team grant number 1095127; and Partnership Project number 1153439) and the Motor Neuron Disease Research Institute of Australia. MCK was supported by a NHMRC Practitioner Fellowship (number 1156093).info:eu-repo/semantics/publishedVersio

Differentiating lower motor neuron syndromes

Lower motor neuron (LMN) syndromes typically present with muscle wasting and weakness and may arise from pathology affecting the distal motor nerve up to the level of the anterior horn cell. A variety of hereditary causes are recognised, including spinal muscular atrophy, distal hereditary motor neuropathy and LMN variants of familial motor neuron disease. Recent genetic advances have resulted in the identification of a variety of disease-causing mutations. Immune-mediated disorders, including multifocal motor neuropathy and variants of chronic inflammatory demyelinating polyneuropathy, account for a proportion of LMN presentations and are important to recognise, as effective treatments are available. The present review will outline the spectrum of LMN syndromes that may develop in adulthood and provide a framework for the clinician assessing a patient presenting with predominantly LMN features

"There's nothing I can't do – I just put my mind to anything and I can do it": a qualitative analysis of how children with chronic disease and their parents account for and manage physical activity

The results of this study suggest that for these children and young people, having a chronic disease was not perceived as a barrier to participation in organised sport and recreational activities. They were physically active and perceived themselves to be no different from their peers. Their positive beliefs were shared by their parents and the level of participation described was enabled by the high level of parental support and background planning involved in managing their child's health care needs