bluuebunny/crossref_metadata_2025_split huggingface dataset:
BRCA1‐associated protein 1: Tumor predisposition syndrome and Kury‐Isidor syndrome, from genotype–phenotype correlation to clinical management
Authors: West Elizabeth Casey , Chiappetta Marco , Mattingly Aubrey Anne , Congedo Maria Teresa , Evangelista Jessica , Campanella Annalisa , Sassorossi Carolina , Flamini Sara , Rossi Teresa , Pistoni Mariaelena , Abenavoli Ludovico , Margaritora Stefano , Lococo Filippo , Boccuto Luigi 
Published: March 2024

AbstractThe BAP1 tumor suppressor gene encodes a deubiquitinase enzyme involved in several cellular activities, including DNA repair and apoptosis. Germline pathogenic variants in BAP1 have been associated with heritable conditions including BAP1 tumor predisposition syndrome 1 (BAP1‐TPDS1) and a neurodevelopmental disorder known as Kury‐Isidor syndrome (KURIS). Both these conditions are caused by monoallelic, dominant alterations of BAP1 but have never been reported in the same subject or family, suggesting a mutually exclusive genotype–phenotype correlation. This distinction is extremely important considering the early onset and aggressive nature of the types of cancer reported in individuals with TPDS1. Genetic counseling in subjects with germline BAP1 variants is fundamental to predicting the effect of the variant and the expected phenotype, assessing the potential risk of developing cancer for the tested subject and the family members who may carry the same variant and providing the multidisciplinary clinical team with the proper information to establish precise surveillance and management protocols.
The melanocortin‐4 receptor pathway and the emergence of precision medicine in obesity management
Authors: Fansa Sima , Acosta Andres 
Published: March 2024

AbstractOver the past few decades, there has been a global surge in the prevalence of obesity, rendering it a globally recognized epidemic. Contrary to simply being a medical condition, obesity is an intricate disease with a multifactorial aetiology. Understanding the precise cause of obesity remains a challenge; nevertheless, there seems to be a complex interplay among biological, psychosocial and behavioural factors. Studies on the genetic factors of obesity have revealed several pathways in the brain that play a crucial role in food intake regulation. The best characterized pathway, thus far, is the leptin–melanocortin pathway, from which disruptions are responsible for the majority of monogenic obesity disorders. The effectiveness of conservative lifestyle interventions in addressing monogenic obesity has been limited. Therefore, it is crucial to complement the management strategy with pharmacological and surgical options. Emphasis has been placed on developing drugs aimed at replacing the absent signals, with the goal of restoring the pathway. In both monogenic and polygenic forms of obesity, outcomes differ across various interventions, likely due to the multifaceted nature of the disease. This underscores the need to explore alternative therapeutic strategies that can mitigate this heterogeneity. Precision medicine can be regarded as a powerful tool that can address this concern, as it values the understanding of the underlying abnormality triggering the disease and provides a tailored treatment accordingly. This would assist in optimizing outcomes of the current therapeutic approaches and even aid in the development of novel treatments capable of more effectively managing the global obesity epidemic.
Sentiments and spending intentions: Evidence from Florida
Authors: Sandoval Hector H. , Walsh Anita N. 
Published: March 2024

AbstractConsumer sentiment is considered an important indicator of changes in household spending. However, the evidence of the causal relationship between sentiment and consumption is mixed and scarce. We address this gap using data from the monthly Florida Consumer Attitude Survey, which captures party affiliation, consumer sentiment, and spending intentions since 1991. We employ political partisanship as an instrument for sentiment and find a significant effect of sentiment on spending intentions. Finally, we provide evidence that spending intentions relate to actual spending and show that spending increased among counties with a larger share of Republican voters following the 2016 presidential election.
The impact of plant genetic variation and water stress on plant–herbivore interactions
Authors: Medina Lilhac S. , Craig Timothy P. 
Published: March 2024

Abstract
Plant genotype, water stress and their interaction are among the factors contributing to the susceptibility of plants to herbivory. The plant's nitrogen concentration, a critical and often limiting nutrient, differs with plant genotype and water stress. Still, few studies have investigated the impact of the interaction between genotype and water stress on herbivory and plant nitrogen.
We established a common garden in Duluth, MN, of tall goldenrod, Solidago altissima, collected from a local Minnesota site to analyse the effects of goldenrod genotype and water stress on leaf nitrogen and the preference and performance of the chrysanthemum lace bug, Corythucha marmorata.
Lace bugs had oviposition, nymph and adult preferences among host plant genotypes, water treatments and among genotype and water treatment combinations. Nymph and adult survival and adult mass varied significantly due to plant genotype, water treatment, the interaction between plant and water treatment and the interaction of treatment with lace bug density. Oviposition preference and offspring performance were significantly positively related.
Leaf nitrogen increased with the increasing severity of the water limitation in the absence of lace bugs. However, in the presence of lace bugs, there was no difference in nitrogen among water treatments.
We hypothesize that lace bugs reduce leaf nitrogen concentration to a lower threshold and then move between plants until nitrogen concentration equalises among all plants.
Cover crops affect pool specific soil organic carbon in cropland – A meta‐analysis
Authors: Fohrafellner Julia , Keiblinger Katharina M. , Zechmeister‐Boltenstern Sophie , Murugan Rajasekaran , Spiegel Heide , Valkama Elena 
Published: March 2024

AbstractCover crops (CC) offer numerous benefits to agroecosystems, particularly in the realm of soil organic carbon (SOC) accrual and loss mitigation. However, uncertainties persist regarding the extent to which CCs, in co‐occurrence with environmental factors, influence SOC responses and associated C pools. We therefore performed a weighted meta‐analysis on the effects of CCs on the mineral‐associated organic carbon (MAOC), the particulate organic carbon (POC) and the microbial biomass carbon (MBC) pool compared to no CC cultivation in arable cropland. Our study summarized global research of comparable management, with a focus on climatic zones representative of Europe, such as arid, temperate and boreal climates. In this meta‐analysis, we included 71 independent studies from 61 articles published between 1990 and June 2023 in several scientific and grey literature databases. Sensitivity analysis was conducted and did not identify any significant publication bias. The results revealed that CCs had an overall statistically significant positive effect on SOC pools, increasing MAOC by 4.8% (95% CI: 0.6%–9.4%, n = 16), POC by 23.2% (95% CI: 13.9%–34.4%, n = 39) and MBC by 20.2% (95% CI: 11.7%–30.7%, n = 30) in the top soil, compared to no CC cultivation. Thereby, CCs feed into the stable as well as the more labile C pools. The effect of CCs on MAOC was dependent on soil clay content and initial SOC concentration, whereas POC was influenced by moderators such as CC peak biomass and experiment duration. For MBC, for example, clay content, crop rotation duration and tillage depth were identified as important drivers. Based on our results on the effects of CCs on SOC pools and significant moderators, we identified several research needs. A pressing need for additional experiments exploring the effects of CCs on SOC pools was found, with a particular focus on MAOC and POC. Further, we emphasize the necessity for conducting European studies spanning the north–south gradient. In conclusion, our results show that CC cultivation is a key strategy to promote C accrual in different SOC pools. Additionally, this meta‐analysis provides new insights into the state of knowledge regarding SOC pool changes influenced by CCs, offering quantitative summary results and shedding light on the sources of heterogeneity affecting these findings.
Clinical and neuroimaging phenotypes of autoimmune glial fibrillary acidic protein astrocytopathy: A systematic review and meta‐analysis
Authors: Hagbohm Caroline , Ouellette Russell , Flanagan Eoin P. , Jonsson Dagur I. , Piehl Fredrik , Banwell Brenda , Wickström Ronny , Iacobaeus Ellen , Granberg Tobias , Ineichen Benjamin V. 
Published: March 2024

AbstractObjectiveThis study was undertaken to provide a comprehensive review of neuroimaging characteristics and corresponding clinical phenotypes of autoimmune glial fibrillary acidic protein astrocytopathy (GFAP‐A), a rare but severe neuroinflammatory disorder, to facilitate early diagnosis and appropriate treatment.MethodsA PRISMA (Preferred Reporting Items for Systematic Reviews and Meta‐Analysis)‐conforming systematic review and meta‐analysis was performed on all available data from January 2016 to June 2023. Clinical and neuroimaging phenotypes were extracted for both adult and paediatric forms.ResultsA total of 93 studies with 681 cases (55% males; median age = 46, range = 1–103 years) were included. Of these, 13 studies with a total of 535 cases were eligible for the meta‐analysis. Clinically, GFAP‐A was often preceded by a viral prodromal state (45% of cases) and manifested as meningitis, encephalitis, and/or myelitis. The most common symptoms were headache, fever, and movement disturbances. Coexisting autoantibodies (45%) and neoplasms (18%) were relatively frequent. Corticosteroid treatment resulted in partial/complete remission in a majority of cases (83%). Neuroimaging often revealed T2/fluid‐attenuated inversion recovery (FLAIR) hyperintensities (74%) as well as perivascular (45%) and/or leptomeningeal (30%) enhancement. Spinal cord abnormalities were also frequent (49%), most commonly manifesting as longitudinally extensive myelitis. There were 88 paediatric cases; they had less prominent neuroimaging findings with lower frequencies of both T2/FLAIR hyperintensities (38%) and contrast enhancement (19%).ConclusionsThis systematic review and meta‐analysis provide high‐level evidence for clinical and imaging phenotypes of GFAP‐A, which will benefit the identification and clinical workup of suspected cases. Differential diagnostic cues to distinguish GFAP‐A from common clinical and imaging mimics are provided as well as suitable magnetic resonance imaging protocol recommendations.
UAV Thermal Mapping as a New Tool to Detect Subsurface Moisture and Document Baseline Environmental Conditions
Authors: Laton William R. , Perez Rene A. , Foster John H. 
Published: March 2024

AbstractThe California High‐Speed Rail is currently planning a rail corridor through the San Gabriel Mountains. The alignment will require tunnels up to approximately 600 m deep and crossing through the San Gabriel Mountains in the SR 14 area. This study utilized repeated optical and infrared unmanned aerial vehicle (UAV) aerial imagery to document the baseline environmental conditions overlying one of the future high‐speed rail tunnels. Images provide vegetation and soil moisture patterns along the surface route of the corridor for future comparison when the tunneling segments are bored. Analysis of reflectance data revealed subsurface water flow in the Bear Creek‐Sand Canyon Creek Study Area. Using UAVs is considered an effective new tool to detect large‐scale and discrete environmental conditions, perhaps undocumented or unobservable, via standard mapping tools. Setting detailed baseline conditions is important to identify changes that may occur because of future tunneling.
Health utilities in adults with hemophilia A: A retrospective cohort study
Authors: Hirniak Sam , Edginton Andrea N , Iorio Alfonso , Alsabbagh Mhd. Wasem , Hajducek Dagmar M. , Wong William WL 
Published: March 2024

AbstractIntroductionHaemophilia A negatively affects a patient's quality of life. There is a limited amount of health utility data (a measure of health‐related quality of life) available for patients with haemophilia A. This information is crucial for cost‐effectiveness analysis for haemophilia A treatment.ObjectivesThe goal of this project is to elicit the health utilities and factors impacting utility values for haemophilia A patients in Canada.MethodsThis is a population‐based, cross‐sectional, retrospective study of health utilities in patients with haemophilia A using Patient Report Outcomes Burdens and Experiences (PROBE) components from the Canadian Bleeding Disorders Registry (CBDR). A review of the mean utilities for three severity states, defined by clotting factor VIII level, was completed. A multiple linear regression analysis was completed to examine the determinants of health utilities including age, treatment type, chronic pain status, number of limited joints, and bleed rate.ResultsThe average utility values (and standard deviations) for patients with haemophilia A in Canada are .79(.17), .76(.20), and .77(.19) for patients with severe, moderate, and mild haemophilia. The regression showed chronic pain status and the number of additional comorbidities as major significant factors (p‐value < .001) in haemophilia A utility. Haemophilia severity was shown to be a major factor with smaller p‐value (p‐value < .05).ConclusionsHaemophilia A patients have lower utility than the general population. Chronic pain was shown to be a significant, major factor in health‐related quality of life. Our study is essential for valuing health outcomes in haemophilia A‐related cost‐effectiveness analysis.
Use of crushed tranexamic acid tablets in water for paediatric patients with bleeding disorders
Authors: Al‐Huniti Ahmad , Marshall Linda , Rusk Dawn , Pruthi Rajiv K. , Rodriguez Vilmarie , Ferdjallah Asmaa , Kuhn Alexis 
Published: March 2024

AbstractBackgroundΕ‐Aminocaproic acid oral solution (EACA OS) is the only commercially available antifibrinolytic for patients who cannot swallow tablets. Insurance denials and high costs remain barriers to its use.ObjectivesTo determine the safety and efficacy of crushed tranexamic acid tablets in water (cTXAw) for children with bleeding disorders.MethodsWe retrospectively reviewed records of children (<10 years) with bleeding disorders who received cTXAw or EACA OS from 1 December 2018, through 31 July 2022, at Mayo Clinic (Rochester, Minnesota). Bleeding outcomes were defined according to ISTH criteria.ResultsThirty‐two patients were included (median age, 3 years; male, n = 23). Diagnoses were VWD (n = 17), haemophilia (n = 5), FVII deficiency (n = 3), inherited platelet disorder (n = 4), ITP (n = 2), and combined FV and FVII deficiencies (n = 1). Thirty‐two courses of cTXAw (monotherapy 24/32; mean duration 6 days) and fifteen courses of EACA (monotherapy 12/15; mean duration 5 days) were administered. No surgical procedures (n = 28) were complicated by bleeding. Of the 19 bleeding events, 16 had effective haemostasis, two had no reported outcome, and one had no response. cTXAw and EACA were equally effective in preventing and treating bleeding (p value > .1). No patients had adverse effects. Eight of 19 patients (42%) who were initially prescribed EACA OS did not receive it because of cost or insurance denial.The estimated average wholesale price of one treatment was $94 for cTXAw and $905 for EACA OS.ConclusionsCTXAw appears to be an effective, safe, and low‐cost alternative option to EACA OS for young children with bleeding disorders.
Sexually transmitted and blood‐borne infection risk reduction with methadone and buprenorphine/naloxone among people with prescription‐type opioid use disorder: Findings from a Canadian pragmatic randomized trial
Authors: Socias M. Eugenia , Cui Zishan , Le Foll Bernard , Lei Jingxin , Stewart Sherry , Anand Rohan , Jutras‐Aswad Didier 
Published: March 2024

AbstractIntroductionPeople who use drugs are disproportionally affected by sexually transmitted and blood‐borne infections (STBBIs). While the benefits of methadone in reducing injecting‐risk behaviours are well documented, less is known on its impacts on sexual‐related risks, as well as its comparative effectiveness to buprenorphine/naloxone, particularly in the context of highly potent opioids. The aim of this study was to estimate the relative effects of buprenorphine/naloxone and methadone on injecting and STBBI risks among people with prescription‐type opioid use disorder (POUD).MethodsSecondary analysis of a pan‐Canadian pragmatic 24‐week randomized clinical trial comparing methadone and buprenorphine/naloxone models of care among 272 people with POUD (including licit or illicit opioid analgesics, fentanyl). The Risk Behaviour Survey was used to collect injecting and sexual risks at baseline, and weeks 12 and 24.ResultsIn total, 210 participants initiated treatment (103 buprenorphine/naloxone and 107 methadone). At baseline, 113/205 (55.1%) participants reported recently injecting drugs, 37/209 (17.7%) unsafe injection practices and 67/162 (41.4%) high‐risk sex. Both methadone and buprenorphine/naloxone were associated with reductions in the prevalence of injection drug use and high‐risk sex at weeks 12 and 24 with no interactions between treatment arm and time.ConclusionMethadone and buprenorphine/naloxone were similarly effective in reducing injecting and sexual risk behaviours among people with POUD.Clinical Trials Registrationclinicaltrials.gov NCT03033732.
Telehealth during COVID‐19 restrictions in patients with cardiovascular disease: impact on medication prescriptions and patient satisfaction
Authors: Gahungu Nestor , Lan Nick S. R. , Gamalath Sameera , Phan Jane , Bhat Vikas , Spencer Rhys , Hitchen Sarah A. , Rankin James M. , Dwivedi Girish , Ihdayhid Abdul Rahman 
Published: March 2024

AbstractBackground and AimsTelehealth plays an integral part in healthcare delivery. The impact of telehealth and the COVID‐19 pandemic on medication prescribing and patient satisfaction with telehealth in cardiology clinics remains unknown.MethodsA retrospective study of cardiology clinic patients at an Australian tertiary hospital was conducted; 630 patients seen before the COVID‐19 pandemic (0.6% telehealth) and 678 during the pandemic (91.2% telehealth) were included. Medication changes, new prescriptions and time to obtaining prescriptions after clinic were compared. To evaluate patients' experiences, cardiology clinic patients reviewed during the pandemic were prospectively invited to participate in an electronic survey sent to their mobile phones.ResultsThe overall rates of medication changes made in the clinic between the prepandemic and the pandemic periods did not differ significantly (26.9% vs 25.8%). Compared with prepandemic, new cardiac medication prescriptions during clinic were significantly less (9.3% vs 2.5%; P < 0.0001) and recommendations to general practitioners (GP) to initiate cardiac medications were significantly more (2.6% vs 9.1%; P < 0.0001). Time to obtaining new prescriptions was significantly longer in the pandemic cohort (median 0 days (range: 0–32) vs 10.5 days (range: 0–231); P < 0.0001). Two hundred forty‐three (32.7%) patients participated in the survey; 50% reported that telehealth was at least as good as face‐to‐face consultations. Most patients (61.5%) were satisfied with telehealth and most (62.9%) wished to see telehealth continued postpandemic.ConclusionTelehealth during the COVID‐19 pandemic was associated with greater reliance on GP to prescribe cardiac medications and delays in obtaining prescriptions among cardiology clinic patients. Although most patients were satisfied with telehealth services, nearly half of the cardiac patients expressed preference towards traditional face‐to‐face consultations.
Inhibition of leukotriene‐B4 signalling‐mediated host response to tuberculosis is a potential mode of adjunctive host‐directed therapy
Authors: Banerjee Ushashi , Borbora Salik Miskat , Guha Madhura , Yadav Vikas , Sanjay V. , Singh Amit , Balaji Kithiganahalli Narayanaswamy , Chandra Nagasuma 
Published: March 2024

AbstractTreatment of tuberculosis (TB) is faced with several challenges including the long treatment duration, drug toxicity and tissue pathology. Host‐directed therapy provides promising avenues to find compounds for adjunctively assisting antimycobacterials in the TB treatment regimen, by promoting pathogen eradication or limiting tissue destruction. Eicosanoids are a class of lipid molecules that are potent mediators of inflammation and have been implicated in aspects of the host response against TB. Here, we have explored the blood transcriptome of pulmonary TB patients to understand the activity of leukotriene B4, a pro‐inflammatory eicosanoid. Our study shows a significant upregulation in the leukotriene B4 signalling pathway in active TB patients, which is reversed with TB treatment. We have further utilized our in‐house network analysis algorithm, ResponseNet, to identify potential downstream signal effectors of leukotriene B4 in TB patients including STAT1/2 and NADPH oxidase at a systemic as well as local level, followed by experimental validation of the same. Finally, we show the potential of inhibiting leukotriene B4 signalling as a mode of adjunctive host‐directed therapy against TB. This study provides a new mode of TB treatment along with mechanistic insights which can be further explored in pre‐clinical trials.
Indonesian nurses’ awareness and application of reasonable adjustments when caring for people with intellectual disability and/or autism
Authors: Pracilio Amy , Wilson Nathan J. , Tumanggor Roxsana Devi , Cashin Andrew 
Published: March 2024

AbstractAimThis study aimed to understand Indonesian nurses’ familiarity with the concept of reasonable adjustments, and the frequency of its application within their practice.BackgroundPeople with intellectual disability and/or autism are exposed to significant barriers when accessing healthcare and have poorer health outcomes than those without developmental disabilities. Reasonable adjustments can improve accessibility and quality of healthcare for people with disabilities and involves adapting practices and environments to promote equitable healthcare.IntroductionThere is a scarcity of literature focused on the application of reasonable adjustments in the Indonesian nursing context. A greater understanding of the application of reasonable adjustments in this context can help inform nursing curricula and policy.MethodsA cross‐sectional, descriptive survey ‐was undertaken and is reported in accordance with the Strengthening the Reporting of Evaluations and Non‐randomised Designs. Following descriptive analysis, bivariate analyses were undertaken between key demographic, workplace, and self‐reported capability variables, and familiarity and implementation of reasonable adjustments.ResultsThe majority of respondents were not familiar with the concept of reasonable adjustments and self‐reported sometimes applying it within their practice. Higher levels of educational and clinical exposure to intellectual disability and/or autism, and self‐capability variables, were significantly associated with familiarity with reasonable adjustments and their application.ConclusionsAn increase in nursing curricula focused on caring for people with intellectual disability and/or autism, including content focused on applying reasonable adjustments, is indicated.Implications for nursing policyGiven that, internationally, people with intellectual disability and/or autism have disproportionately negative health outcomes and experiences, findings highlighting gaps in understanding and application of reasonable adjustments of Indonesian nurses have substantial implications for nursing policy and curriculum.