bluuebunny/crossref_metadata_2025_split huggingface dataset:
Biallelic truncating variants in the muscular A‐type lamin‐interacting protein (MLIP) gene cause myopathy with hyperCKemia
Authors: Salzer‐Sheelo Liat , Fellner Avi , Orenstein Naama , Bazak Lily , Lev‐El Halabi Noa , Daue Melanie , Smirin‐Yosef Pola , Van Hout Cristopher V. , Fellig Yakov , Ruhrman‐Shahar Noa , Staples Jeffrey , Magal Nurit , Shuldiner Alan R. , Mitchell Braxton D. , Nevo Yoram , Pollin Toni I. , Gonzaga‐Jauregui Claudia , Basel‐Salmon Lina 
Published: December 2021

AbstractBackground and purposeMuscular A‐type lamin‐interacting protein (MLIP) is most abundantly expressed in cardiac and skeletal muscle. In vitro and animal studies have shown its regulatory role in myoblast differentiation and in organization of myonuclear positioning in skeletal muscle, as well as in cardiomyocyte adaptation and cardiomyopathy. We report the association of biallelic truncating variation in the MLIP gene with human disease in five individuals from two unrelated pedigrees.MethodsClinical evaluation and exome sequencing were performed in two unrelated families with elevated creatine kinase level.ResultsFamily 1. A 6‐year‐old girl born to consanguineous parents of Arab‐Muslim origin presented with myalgia, early fatigue after mild‐to‐moderate physical exertion, and elevated creatine kinase levels up to 16,000 U/L. Exome sequencing revealed a novel homozygous nonsense variant, c.2530C>T; p.Arg844Ter, in the MLIP gene. Family 2. Three individuals from two distantly related families of Old Order Amish ancestry presented with elevated creatine kinase levels, one of whom also presented with abnormal electrocardiography results. On exome sequencing, all showed homozygosity for a novel nonsense MLIP variant c.1825A>T; p.Lys609Ter. Another individual from this pedigree, who had sinus arrhythmia and for whom creatine kinase level was not available, was also homozygous for this variant.ConclusionsOur findings suggest that biallelic truncating variants in MLIP result in myopathy characterized by hyperCKemia. Moreover, these cases of MLIP‐related disease may indicate that at least in some instances this condition is associated with muscle decompensation and fatigability during low‐to‐moderate intensity muscle exertion as well as possible cardiac involvement.
Establishing the research agenda for oral healthcare using the Dialogue Model—patient involvement in a joint research agenda with practitioners
Authors: van der Wouden Puck , Hilverda Femke , van der Heijden Geert , Shemesh Hagay , Pittens Carina 
Published: December 2021

AbstractEngagement of patients in the composition of a research agenda is essential to reduce the gap between research and practice and thereby generate more impact. The aim of this study was to develop a research agenda for oral health. Experienced challenges and needs with oral health(care) of practitioners and patients formed the input for the research agenda. We describe the identification of research priorities of patients and the integration of these with previously identified research priorities of practitioners, using a participatory multi‐phase approach for research agenda setting (Dialogue Model). Via focus group discussions, 32 research topics were generated. Next, 1495 patients prioritized these topics in an online survey. In a dialogue meeting, a joint research agenda of eight research topics was agreed upon. Many topics were contributed by patients, but were prioritized by both stakeholder groups. The most important topics concerned behavior change and the relation between general and oral health. Other topics that were prioritized covered affordability and accessibility as well as health system research and organizational issues. By considering different perspectives, this research agenda has uncovered directions for future research that go beyond evident research topics, as many topics are currently underrepresented in oral healthcare research.
A secret of salivary secretions: Multimodal effect of saliva in sensory perception of food
Authors: Khramova Daria S. , Popov Sergey V. 
Published: December 2021

AbstractSaliva plays multifunctional roles in oral cavity. Even though its importance for the maintenance of oral health has long been established, the role of saliva in food perception has attracted increasing attention in recent years. We encourage researchers to discover the peculiarity of this biological fluid and aim to combine the data concerning all aspects of the saliva influence on the sensory perception of food. This review presents saliva as a unique material, which modulates food perception due to constant presence of saliva in the mouth and thanks to its composition. Therefore, we highlight the salivary components that contribute to these effects. Moreover, this review is an attempt to structure the effects of saliva on perception of different food categories, where the mechanisms of salivary impact in perception of liquid, semi‐solid, and solid foods are revealed. Finally, we emphasize that the large inter‐individual variability in salivary composition and secretion appear to contribute to the fact that everyone experiences food in their own way. Therefore, the design of the sensory studies should consider the properties of volunteers’ saliva and also carefully monitor the experimental conditions that affect salivary composition and flow rate.
Norwegian population‐based study of long‐term effects, safety, and predictors of response of vagus nerve stimulation treatment in drug‐resistant epilepsy: The NORPulse study
Authors: Kostov Konstantin H. , Kostov Hrisimir , Larsson Pål Gunnar , Henning Oliver , Eckmann Christian Alexander Cornelius , Lossius Morten Ingvar , Peltola Jukka 
Published: December 2021

AbstractObjectiveThis study was undertaken to evaluate the efficacy of vagus nerve stimulation (VNS) over time, and to determine which patient groups derive the most benefit.MethodsLong‐term outcomes are reported in 436 epilepsy patients from a VNS quality registry (52.8% adults, 47.2% children), with a median follow‐up of 75 months. Patients were stratified according to evolution of response into constant responders, fluctuating responders, and nonresponders. The effect was evaluated at 6, 12, 24, 36, and 60 months. Multivariate regression analysis was used to identify predictors of response.ResultsThe cumulative probability of ≥50% seizure reduction was 60%; however, 15% of patients showed a fluctuating course. Of those becoming responders, 89.5% (230/257) did so within 2 years. A steady increase in effect was observed among constant responders, with 48.7% (19/39) of those becoming seizure‐free and 29.3% (39/133) with ≥75% seizure reduction achieving these effects within 2–5 years. Some effect (25%–<50%) at 6 months was a positive predictor of becoming a responder (odds ratio [OR] = 10.18, p < .0001) and having ≥75% reduction at 2 years (OR = 3.34, p = .03). Patients without intellectual disability had ORs of 3.34 and 3.11 of having ≥75% reduction at 2 and 5 years, respectively, and an OR of 6.22 of being seizure‐free at last observation. Patients with unchanged antiseizure medication over the observation period showed better responder rates at 2 (63.0% vs. 43.1%, p = .002) and 5 years (63.4% vs. 46.3%, p = .031) than patients whose antiseizure medication was modified. Responder rates were higher for posttraumatic (70.6%, p = .048) and poststroke epilepsies (75.0%, p = .05) than other etiologies (46.5%).SignificanceOur data indicate that the effect of VNS increases over time and that there are important clinical decision points at 6 and 24 months for evaluating and adjusting the treatment. There should be better selection of candidates, as certain patient groups and epilepsy etiologies respond more favorably.
Estimating the national fishing mortality of Southern Bluefin TunaThunnus maccoyiifrom Australia’s recreational fishing sector
Authors: Tracey Sean R. , Lyle Jeremy M. , Stark Kate E. , Gray Scott , Moore Anthony , Twiname Samantha , Wotherspoon Simon 
Published: December 2021

AbstractSouthern Bluefin Tuna (SBT)Thunnus maccoyii(Castelnau) comprises a single, highly migratory stock that is managed internationally by the Commission for the Conservation of Southern Bluefin Tuna (CCSBT). CCSBT members are expected to provide estimates of all sources of fishing mortality within their allocation, including commercial and recreational catch and any additional mortality associated with discarded or released catch. In the absence of a national registration system for the SBT recreational fishery, which would provide a comprehensive sampling frame, an ensemble of off‐site and on‐site survey methods was used across five state jurisdictions to provide the first species‐specific national assessment of a recreational fishery in Australia. The national harvest of SBT for the 12 months from December 2018 to November 2019 by the recreational sector was 270t(239–301t: 95% CL). This survey has resulted in the first official recognition of a catch set aside to the recreational sector for an Australian Commonwealth managed fishery with 5% per cent of the CCSBT allocation to Australia now set aside for the sector.
Leisure activities and instrumental activities of daily living: A 3‐year cohort study from the Japan Gerontological Evaluation Study
Authors: Ukawa Shigekazu , Tamakoshi Akiko , Tani Yukako , Sasaki Yuri , Saito Junko , Haseda Maho , Shirai Kokoro , Kondo Naoki , Kondo Katsunori , Kawachi Ichiro 
Published: December 2021

AimWe prospectively examined the association between leisure activities and changes in instrumental activities of daily living (IADL) among participants of the Japan Gerontological Evaluation Study (JAGES).MethodsWe analyzed data collected from 49 732 JAGES participants (23 359 men and 26 373 women), aged ≥65 years, from 24 municipalities in Japan.MeasurementsBaseline data were obtained for 25 types of leisure activities in which the cohort members participated. Baseline (2010) and follow‐up (2013) data on IADL were collected – the outcome indicated changes in IADL scores from 2010 to 2013. We regressed changes in IADL scores from the 2010 to 2013 to the number of leisure activities.ResultsOlder adults who engaged in more leisure activities had higher changes in IADL scores than those who engaged in fewer leisure activities: the β values (95% confidence interval [CI]) of the IADL scores were 0.001 [−0.04–0.04], 0.04 [0.01–0.08], 0.09 [0.05–0.13], 0.09 [0.05–0.14], 0.08 [0.02–0.13], and 0.13 [0.07–0.18] for having one, two, three, four, five, and more than six types of leisure activities (P for trend <0.001), respectively. Similar associations were found for different types of leisure activities, including predominantly physical and cultural activities. Statistically significant linear trends were obtained among the group, solitary, and other leisure activity subgroups (P for trend <0.05).ConclusionsEncouraging engagement in leisure activities may promote maintenance of IADL among older populations. Different types of leisure activities appear to have similar positive impacts on IADL. Geriatr Gerontol Int 2022; 22: 152–159.
Where is the backbone of the transnational corporate elite?
Authors: Valeeva Diliara 
Published: December 2021

AbstractThe transnationalization of corporate activities has contributed to a rise in the number of transnational professionals and transnational corporate elite members. These transnational actors establish ties within and across national borders and contribute to the formation of a more connected global corporate network. And yet little is known about the geographical locations through which these transnational corporate elites operate, both nationally and internationally. This article aims to fill this gap by applying the network backbone detection algorithm to detect the global cities that are connected through the operations of the transnational corporate board members. The article detects the backbone of around 300 global cities, centered around London, New York and Hong Kong. The findings show that the backbone is currently structuring over a set of border‐crossing communities and expanding to the locations beyond the Anglophone corporate world. The study interprets the presence of these new communities as the first signs toward the convergence of practices, norms and possibly identities of national elite members.
Quantity and specialisation matter: Effects of quantitative and qualitative variation in willow chemistry on resource preference in leaf‐chewing insects
Authors: Leong Jing Vir , Jorge Leonardo R. , Seifert Carlo L. , Volf Martin 
Published: December 2021

Abstract
Plants produce multiple specialised metabolites to defend themselves against insect herbivores. Phytochemical diversity plays important roles in plant–insect interactions, but specific roles of its various dimensions are poorly known. Interspecific chemical β‐diversity represents variation in presence of species‐specific metabolites or quantitative variation in concentrations of metabolites common to several plant species.
We hypothesised that qualitative and quantitative variation in plant chemistry can have differential effects on herbivores from various insect orders.
We linked phytochemical variation in willow salicylates (Salicaceae‐specific metabolites) and flavonoids (widespread metabolites) to a standardised distance‐based specialisation index (DSI*) in three orders of leaf‐chewing insects: sawfly larvae, beetles, and caterpillars.
In beetles, average DSI* accounting for host chemical β‐diversity did not differ from DSI* disregarding host chemistry. Levels of chemical specialisation did not differ among beetle species feeding only on Salicaceae and those using other plant families, suggesting that both can overcome willow chemistry by alternative physiological or behavioural adaptations. Contrastingly, sawflies and caterpillars responded to willow chemistry, with their DSI* corresponding mainly to quantitative differences in willow metabolites. The DSI* accounting for salicylates did not differ from the one accounting for flavonoids in either of the two orders.
Our results suggest that β‐diversity in plant chemistry has differential effects on insect herbivores depending on their order and chemical β‐diversity measurement used. Our results emphasise the importance of quantitative variation in plant chemical composition, suggesting that it does not always have to be rare or species‐specific metabolites that drive host‐choice of leaf‐chewing insects.
Syrian refugee labour and food insecurity in Middle Eastern agriculture during the early COVID‐19 pandemic
Authors: ZUNTZ Ann‐Christin , KLEMA Mackenzie , ABDULLATEEF Shaher , MAZERI Stella , ALNABOLSI Salim Faisal , ALFADEL Abdulellah , ABI‐HABIB Joy , AZAR Maria , CALIA Clara , BURKE Joseph , GRANT Liz , BODEN Lisa 
Published: December 2021

AbstractDrawing on ethnographic data from the 2019 SyrianFoodFutures and the 2020 From the FIELD projects, this article provides insights into the early effects of the COVID‐19 pandemic on refugee labour in agriculture in Iraq, Jordan, Lebanon, Syria and Turkey. In spring 2020, movement restrictions and supply chain disruptions caused displaced Syrian farmworkers to lose their jobs and face increased food insecurity. The authors situate their findings in the context of host countries' use of legal ambiguity in governing refugees, Middle Eastern agriculture's reliance on migrant labour, and the region's long‐standing food insecurity. They conclude that formalizing refugee labour cannot alone address exploitation.
Introduction to the updated Australasian consensus guidelines for the management of invasive fungal disease and use of antifungal agents in the haematology/oncology setting, 2021
Authors: Chang Christina C. , Blyth Christopher C. , Chen Sharon C‐A. , Khanina Anna , Morrissey C. Orla , Roberts Jason A. , Thursky Karin A. , Worth Leon J. , Slavin Monica A. ,   Australasian Antifungal Guidelines Steering Committee
Published: December 2021

AbstractThis article introduces the fourth update of theAustralian and New Zealand consensus guidelines for the management of invasive fungal disease and use of antifungal agents in the haematology/oncology setting.These guidelines are comprised of nine articles as presented in this special issue of theInternal Medicine Journal. This introductory chapter outlines the rationale for the current update and the steps taken to ensure implementability in local settings. Given that 7 years have passed since the previous iteration of these guidelines, pertinent contextual changes that impacted guideline content and recommendations are discussed, including the evolution of invasive fungal disease (IFD) definitions. We also outline our approach to guideline development, evidence grading, review and feedback. Highlights of the 2021 update are presented, including expanded scope to provide more detailed coverage of common and emerging fungi such asAspergillusandCandidaspecies, and emerging fungi, and a greater focus on the principles of antifungal stewardship. We also introduce an entirely new chapter dedicated to helping healthcare workers convey important concepts related to IFD, infection prevention and antifungal therapy, to patients.
Consensus guidelines for antifungal prophylaxis in haematological malignancy and haemopoietic stem cell transplantation, 2021
Authors: Teh Benjamin W. , Yeoh Daniel K. , Haeusler Gabrielle M. , Yannakou Costas K. , Fleming Shaun , Lindsay Julian , Slavin Monica A. ,   Australasian Antifungal Guidelines Steering Committee
Published: December 2021

AbstractAntifungal prophylaxis can reduce morbidity and mortality from invasive fungal disease (IFD). However, its use needs to be optimised and appropriately targeted to patients at highest risk to derive the most benefit. In addition to established risks for IFD, considerable recent progress in the treatment of malignancies has resulted in the development of new ‘at‐risk’ groups. The changing epidemiology of IFD and emergence of drug resistance continue to impact choice of prophylaxis, highlighting the importance of active surveillance and knowledge of local epidemiology. These guidelines aim to highlight emerging risk groups and review the evidence and limitations around new formulations of established agents and new antifungal drugs. It provides recommendations around use and choice of antifungal prophylaxis, discusses the potential impact of the changing epidemiology of IFD and emergence of drug resistance, and future directions for risk stratification to assist optimal management of highly vulnerable patients.
Consensus guidelines for the diagnosis and management of invasive aspergillosis, 2021
Authors: Douglas Abby P. , Smibert Olivia. C. , Bajel Ashish , Halliday Catriona L. , Lavee Orly , McMullan Brendan , Yong Michelle K. , van Hal Sebastiaan J. , Chen Sharon C.‐A. ,   the Australasian Antifungal Guidelines Steering Committee
Published: December 2021

AbstractInvasive aspergillosis (IA) in haematology/oncology patients presents as primary infection or breakthrough infection, which can become refractory to antifungal treatment and has a high associated mortality. Other emerging patient risk groups include patients in the intensive care setting with severe respiratory viral infections, including COVID‐19. These guidelines present key diagnostic and treatment recommendations in light of advances in knowledge since the previous guidelines in 2014. Culture and histological‐based methods remain central to the diagnosis of IA. There is increasing evidence for the utility of non‐culture methods employing fungal biomarkers in pre‐emptive screening for infection, as well as for IA diagnosis when used in combination. Although azole resistance appears to be uncommon in Australia, susceptibility testing of clinical Aspergillus fumigatus complex isolates is recommended. Voriconazole remains the preferred first‐line antifungal agent for treating primary IA, including for extrapulmonary disease. Recommendations for paediatric treatment broadly follow those for adults. For breakthrough and refractory IA, a change in class of antifungal agent is strongly recommended, and agents under clinical trial may need to be considered. Newer immunological‐based imaging modalities warrant further study, while surveillance for IA and antifungal resistance remain essential to informing the relevance of current treatment recommendations.
Consensus guidelines for the diagnosis and management of invasive fungal disease due to moulds other than Aspergillus in the haematology/oncology setting, 2021
Authors: Bupha‐Intr Olivia , Butters Coen , Reynolds Gemma , Kennedy Karina , Meyer Wieland , Patil Sushrut , Bryant Penelope , Morrissey Catherine O. ,   Australasian Antifungal Guidelines Steering Committee
Published: December 2021

AbstractInvasive fungal disease (IFD) due to moulds other than Aspergillus is a significant cause of mortality in patients with malignancies or post haemopoietic stem cell transplantation. The current guidelines focus on the diagnosis and management of the common non‐Aspergillus moulds (NAM), such as Mucorales, Scedosporium species (spp.), Lomentospora prolificans and Fusarium spp. Rare but emerging NAM including Paecilomyces variotii, Purpureocillium lilacinum and Scopulariopsis spp. are also reviewed. Culture and histological examination of tissue biopsy specimens remain the mainstay of diagnosis, but molecular methods are increasingly being used. As NAM frequently disseminate, blood cultures and skin examination with biopsy of any suspicious lesions are critically important. Treatment requires a multidisciplinary approach with surgical debridement as a central component. Other management strategies include control of the underlying disease/predisposing factors, augmentation of the host response and the reduction of immunosuppression. Carefully selected antifungal therapy, guided by susceptibility testing, is critical to cure. We also outline novel antifungal agents still in clinical trial which offer substantial potential for improved outcomes in the future. Paediatric recommendations follow those of adults. Ongoing epidemiological research, improvement in diagnostics and the development of new antifungal agents will continue to improve the poor outcomes that have been traditionally associated with IFD due to NAM.
Consensus guidelines for improving patients' understanding of invasive fungal disease and related risk prevention in the haematology/oncology setting, 2021
Authors: Fernando Shevon S. , Paige Emma K. , Dendle Claire , Weinkove Robert , Kong David C. M. , Omond Paul , Routledge David J. , Szer Jeff , Blyth Christopher C. ,   Australasian Antifungal Guidelines Steering Committee
Published: December 2021

AbstractPatients with invasive fungal disease (IFD) are at significant risk of morbidity and mortality. A productive partnership between patients, their carers/families, and the multidisciplinary team managing the infection and any underlying conditions, is essential. Sharing information and addressing knowledge gaps are required to ensure those at risk of IFD avoid infection, while those with suspected or confirmed infection optimise their therapy and avoid toxicities. This new addition to the Australian and New Zealand consensus guidelines for the management of IFD and antifungal use in the haematology/oncology setting outlines the key information needs of patients and their carers/families. It specifically addresses risk factor reduction, antifungal agents and adherence, and the risks and benefits of complementary and alternative therapies. Knowledge gaps are also identified to help inform the future research agenda.