59 research outputs found
<i>PHKA2</i> variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only
Idiopathic ketotic hypoglycemia (IKH) is a diagnosis of exclusion with glycogen storage diseases (GSDs) as a differential diagnosis. GSD IXa presents with ketotic hypoglycemia (KH), hepatomegaly, and growth retardation due to PHKA2 variants. In our multicenter study, 12 children from eight families were diagnosed or suspected of IKH. Wholeâexome sequencing or targeted nextâgeneration sequencing panels were performed. We identified two known and three novel (likely) pathogenic PHKA2 variants, such as p.(Pro869Arg), p.(Pro498Leu), p.(Arg2Gly), p.(Arg860Trp), and p.(Val135Leu), respectively. Erythrocyte phosphorylase kinase activity in three patients with the novel variants p.(Arg2Gly) and p.(Arg860Trp) were 15%â20% of mean normal. One patient had short stature and intermittent mildly elevated aspartate aminotransferase, but no hepatomegaly. Family testing identified two asymptomatic children and 18 adult family members with one of the PHKA2 variants, of which 10 had KH symptoms in childhood and 8 had mild symptoms in adulthood. Our study expands the classical GSD IXa phenotype of PHKA2 missense variants to a continuum from seemingly asymptomatic carriers, over KHâonly with phosphorylase B kinase deficiency, to more or less complete classical GSD IXa. In contrast to typical IKH, which is confined to young children, KH may persist into adulthood in the KHâonly phenotype of PHKA2
Supporting self-management for patients with Interstitial Lung Diseases:Utility and acceptability of digital devices
INTRODUCTION: Patients diagnosed with Interstitial Lung Diseases (ILD) use devices to self-monitor their health and well-being. Little is known about the range of devices, selection, frequency and terms of use and overall utility. We sought to quantify patients' usage and experiences with home digital devices, and further evaluate their perceived utility and barriers to adaptation.METHODS: A team of expert clinicians and patient partners interested in self-management approaches designed a 48-question cross-sectional electronic survey; specifically targeted at individuals diagnosed with ILD. The survey was critically appraised by the interdisciplinary self-management group at Royal Devon University Hospitals NHS Foundation Trust during a 6-month validation process. The survey was open for participation between September 2021 and December 2022, and responses were collected anonymously. Data were analysed descriptively for quantitative aspects and through thematic analysis for qualitative input.RESULTS: 104 patients accessed the survey and 89/104 (86%) reported a diagnosis of lung fibrosis, including 46/89 (52%) idiopathic pulmonary fibrosis (IPF) with 57/89 (64%) of participants diagnosed >3 years and 59/89 (66%) female. 52/65(80%) were in the UK; 33/65 (51%) reported severe breathlessness medical research council MRC grade 3-4 and 32/65 (49%) disclosed co-morbid arthritis or joint problems. Of these, 18/83 (22%) used a hand- held spirometer, with only 6/17 (35%) advised on how to interpret the readings. Pulse oximetry devices were the most frequently used device by 35/71 (49%) and 20/64 (31%) measured their saturations more than once daily. 29/63 (46%) of respondents reported home-monitoring brought reassurance; of these, for 25/63 (40%) a feeling of control. 10/57 (18%) felt it had a negative effect, citing fluctuating readings as causing stress and 'paranoia'. The most likely help-seeking triggers were worsening breathlessness 53/65 (82%) and low oxygen saturation 43/65 (66%). Nurse specialists were the most frequent source of help 24/63 (38%). Conclusion: Patients can learn appropriate technical skills, yet perceptions of home-monitoring are variable; targeted assessment and tailored support is likely to be beneficial.</p
Benefits of wildlife-based land uses on private lands in Namibia and limitations affecting their development
Legislative changes during the 1960sâ1970s
granted user rights over wildlife to landowners in southern
Africa, resulting in a shift from livestock farming to wildlifebased
land uses. Few comprehensive assessments of such
land uses on private land in southern Africa have been
conducted and the associated benefits are not always
acknowledged by politicians. Nonetheless, wildlife-based
land uses are growing in prevalence on private land. In
Namibia wildlife-based land use occurs over c. 287,000 km2.
Employment is positively related to income from ecotourism
and negatively related to income from livestock. While
87% of meat from livestock is exported $95% of venison
from wildlife-based land uses remains within the country,
contributing to food security. Wildlife populations are
increasing with expansion of wildlife-based land uses, and
private farms contain 21â33 times more wildlife than in
protected areas. Because of the popularity of wildlife-based
land uses among younger farmers, increasing tourist arrivals
and projected impacts of climate change on livestock
production, the economic output of wildlife-based land
uses will probably soon exceed that of livestock. However, existing policies favour livestock production and are
prejudiced against wildlife-based land uses by prohibiting
reintroductions of buffalo Syncerus caffer, a key species for
tourism and safari hunting, and through subsidies that
artificially inflate the profitability of livestock production.
Returns from wildlife-based land uses are also limited by the
failure to reintroduce other charismatic species, failure to develop fully-integrated conservancies and to integrate
black farmers sufficiently.TRAFFIC East/Southern Africa and Tom
Milliken for instigating this project and the German
Federal Ministry for Economic Cooperation and Development
and African Wildlife Conservation Fund.http://journals.cambridge.orgam201
Malaria eradication: the economic, financial and institutional challenge
Malaria eradication raises many economic, financial and institutional challenges. This paper reviews these challenges, drawing on evidence from previous efforts to eradicate malaria, with a special focus on resource-poor settings; summarizes more recent evidence on the challenges, drawing on the literature on the difficulties of scaling-up malaria control and strengthening health systems more broadly; and explores the implications of these bodies of evidence for the current call for elimination and intensified control
TLABs: A Teaching and Learning Community of Practice â What is it, Does It Work and Tips for Doing One of Your Own
Communities of Practice are an increasingly common tool used to support novice academics in higher education settings. Initiated in 2015 at a Western Australian University, TLABs is an acronym for âTeaching and Learning for Level A and Bâ academic staff and was designed to build a community of practice to mentor junior academics; help them develop their teaching skills; and enhance academic careers. The paper describes the nature of TLABs; how it is experienced from the perspective of participants and provides recommendations for implementing a successful teaching and learning community of practice in a higher education setting
Tlabs: A teaching and learning community of practice â what is it, does it work and tips for doing one of your own
© 2020, University of Wollongong. All rights reserved. Communities of Practice are an increasingly common tool used to support novice academics in higher education settings. Initiated in 2015 at a Western Australian University, TLABs is an acronym for âTeaching and Learning for Level A and Bâ academic staff and was designed to build a community of practice to mentor junior academics; help them develop their teaching skills; and enhance academic careers. The paper describes the nature of TLABs; how it is experienced from the perspective of participants and provides recommendations for implementing a successful teaching and learning community of practice in a higher education setting
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