bluuebunny/crossref_metadata_2025_split huggingface dataset:
Relation of resistin gene variants to resistin plasma levels and altered susceptibility to polycystic ovary syndrome: A case control study
Authors: Al‐Awadi Aminah M. , Saldhana Fabiola Lisa , Bauyrzhanova Zhansaya , Nemr Rita , Mahmood Naeema A. , Almawi Wassim Y. 
Published: May 2023

AbstractBackgroundA role for resistin in the pathogenesis of polycystic ovarian syndrome (PCOS) and related features were described for various ethnicities. As its expression is partly inherited, a role for RETN polymorphisms in regulating resistin levels and PCOS risk was shown, but with varied results.AimTo investigate the association of rs34124816 (–537A>C), rs1862513 (–420C>G), rs3219175 (–358G>A), rs3745367 (+299G>A), rs3745369 (+1263G>C), and rs1423096 (+4965C>T) RETN SNPs with PCOS.MethodsStudy subjects included 583 women with PCOS, and 713 eumenorrheic women serving as controls. Genotyping was done by real‐time PCR.ResultsHigher minor allele frequency (MAF) of rs34124816, rs3219175, and rs3745369, and lower MAF of rs1862513 and rs1423096 were seen in PCOS cases. Reduced PCOS risk was found with rs3745367 minor‐allele homozygotes and rs1423096 minor‐allele homozygotes, while increased risk was linked with rs3745367 heterozygotes, and with rs3745369 heterozygotes and minor‐allele homozygotes. While it did not reach statistical significance, serum resistin levels were elevated in PCOS cases than in control women and major‐allele homozygotes of rs34124816 and rs1862513, and in rs1423096 minor‐allele‐containing carriers. Carriage of rs34124816 correlated positively with age and LH, whereas rs1862513 positively and rs3745367 negatively correlated with fasting glucose. Six‐locus (rs34124816‐rs1862513‐rs3219175‐rs3745367‐rs3745369‐rs1423096) haplotype analysis demonstrated a significant reduction in AGGGGG and a marked increase in AGGGCG haplotypes between cases and controls, thus assigning PCOS protective and susceptible nature to these haplotypes, respectively.ConclusionsThis study is the first to document the contribution of rs34124816 and rs1423096 RETN variants to the risk of PCOS. The varied association of RETN gene variants with PCOS suggests an ethnic contribution of RETN association with PCOS.
Benefits and challenges of electronic prescribing for general practitioners and pharmacists in regional Australia
Authors: Tan Tiffany , Chan Sonia , Ind Melissa , Pace Georgia , Bailey Jannine , Reed Krista , Dutton Teagan , Osuagwu Uchechukwu Levi , Wong Kam Cheong 
Published: May 2023

AbstractObjectiveTo explore the benefits and challenges of electronic prescribing (e‐prescribing) for general practitioners (GPs) and pharmacists in regional New South Wales (NSW).MethodsThis qualitative study utilised semistructured interviews conducted virtually or in‐person between July and September 2021.Setting and ParticipantsGeneral practitioners and pharmacists practising in Bathurst NSW.Main OutcomesSelf‐reported perceived and experienced benefits and challenges of e‐prescribing.ResultsTwo GPs and four pharmacists participated in the study. Reported benefits of e‐prescribing included improvement in the prescribing and dispensing process, patient adherence, and prescription safety and security. The increased convenience for the patients was appreciated particularly during the COVID‐19 pandemic. Challenges discussed were how the system was perceived to be unsafe and insecure, costs of messaging and updating general practice software, utilisation of new systems and patient awareness. Pharmacists reported the need for education to patients and staff to minimise the impact of inexperience with the novel technology on workflow efficacy.ConclusionThis study provided first insight and information on the perspectives of GPs and pharmacists 12 months after the implementation of e‐prescribing. Further nationwide studies are required to consolidate these findings; provide comparisons with the system's progress since conception; determine whether metropolitan and rural health care professionals share similar perspectives; and shed light on where additional government support may be required.
Editorial: golimumab dosing intensification effective in ulcerative colitis with no need for therapeutic drug monitoring
Authors: Hanzel Jurij , Drobne David 
Published: May 2023

LINKED CONTENTThis article is linked to Fumery et al papers. To view these articles, visit https://doi.org/10.1111//apt.17421 and https://doi.org/10.1111/apt.17514
Editorial: in the era of effective antiviral therapy, long‐term dynamic endoscopic monitoring does not seem to be necessary for all CHB patients with compensated cirrhosis
Authors: Li Lan‐Qing , Chen En‐Qiang 
Published: May 2023

LINKED CONTENTThis article is linked to Farina et al paper. To view this article, visit https://doi.org/10.1111/apt.17463
Editorial: optimal combination of non‐invasive tests to determine significant fibrosis in non‐alcoholic fatty liver disease
Authors: Nogami Asako , Nakajima Atsushi , Yoneda Masato 
Published: May 2023

LINKED CONTENTThis article is linked to Younossi et al papers. To view these articles, visit https://doi.org/10.1111/apt.17472 and https://doi.org/10.1111/apt.17517
Letter: Albumin—Does formulation matter?
Authors: Yu Catherine , Iqbal Afia , Garg Mayur , Sood Siddharth , Lewis Diana 
Published: May 2023

LINKED CONTENTThis article is linked to Leache et al papers. To view these articles, visit https://doi.org/10.1111/apt.17344 and https://doi.org/10.1111/apt.17546
Letter: Albumin—Does formulation matter? Authors' reply
Authors: Leache Leire , Gutiérrez‐Valencia Marta , Saiz Luis Carlos , Uriz Juan , Bolado Federico , García‐Erce José Antonio , Cantarelli Lorenzo , Erviti Juan 
Published: May 2023

LINKED CONTENTThis article is linked to Leache et al papers. To view these articles, visit https://doi.org/10.1111/apt.17344 and https://doi.org/10.1111/apt.17531
On the paradox of thriving cold‐water coral reefs in the food‐limited deep sea
Authors: Maier Sandra R. , Brooke Sandra , De Clippele Laurence H. , de Froe Evert , van der Kaaden Anna‐Selma , Kutti Tina , Mienis Furu , van Oevelen Dick 
Published: May 2023

ABSTRACTThe deep sea is amongst the most food‐limited habitats on Earth, as only a small fraction (<4%) of the surface primary production is exported below 200 m water depth. Here, cold‐water coral (CWC) reefs form oases of life: their biodiversity compares with tropical coral reefs, their biomass and metabolic activity exceed other deep‐sea ecosystems by far. We critically assess the paradox of thriving CWC reefs in the food‐limited deep sea, by reviewing the literature and open‐access data on CWC habitats. This review shows firstly that CWCs typically occur in areas where the food supply is not constantly low, but undergoes pronounced temporal variation. High currents, downwelling and/or vertically migrating zooplankton temporally boost the export of surface organic matter to the seabed, creating ‘feast’ conditions, interspersed with ‘famine’ periods during the non‐productive season. Secondly, CWCs, particularly the most common reef‐builder Desmophyllum pertusum (formerly known as Lophelia pertusa), are well adapted to these fluctuations in food availability. Laboratory and in situ measurements revealed their dietary flexibility, tissue reserves, and temporal variation in growth and energy allocation. Thirdly, the high structural and functional diversity of CWC reefs increases resource retention: acting as giant filters and sustaining complex food webs with diverse recycling pathways, the reefs optimise resource gains over losses. Anthropogenic pressures, including climate change and ocean acidification, threaten this fragile equilibrium through decreased resource supply, increased energy costs, and dissolution of the calcium‐carbonate reef framework. Based on this review, we suggest additional criteria to judge the health of CWC reefs and their chance to persist in the future.
Clostridium butyricum inhibits epithelial–mesenchymal transition of intestinal carcinogenesis through downregulating METTL3
Authors: Zhang Kexin , Dong Yue , Li Mengfan , Zhang Wanru , Ding Yiyun , Wang Xin , Chen Danfeng , Liu Tianyu , Wang Bangmao , Cao Hailong , Zhong Weilong 
Published: May 2023

AbstractColorectal cancer (CRC) is related to gut microbiota dysbiosis, especially butyrate‐producing bacteria reduction. Our previous study suggested that administration of Clostridium butyricum, a butyrate‐producing bacterium, exerts a crucial effect against CRC, however the potential mechanism is not clear. We first found that methyltransferase‐like 3 (METTL3) showed a positive correlation with proliferation, epithelial–mesenchymal transition (EMT), DNA repair, metastasis, and invasion in a database analysis. The expression of METTL3 gradually increased from human normal colon tissue, to adenoma, and carcinoma, and was positively correlated with E‐cadherin and CD34 levels. Overexpression of METTL3 promoted the proliferation, migration, and invasion of CRC cells and induced vasculogenic mimicry (VM) formation. Clostridium butyricum could downregulate METTL3 expression in CRC cells and decrease the expression of vimentin and vascular endothelial growth factor receptor 2 to reduce EMT and VM formation. Clostridium butyricum alleviated the pro‐oncogenic effect of METTL3 overexpressing plasmid in CRC cells. The anti‐EMT effect on METTL3 reduction of C. butyricum could be blunted by knocking down G‐protein coupled receptor 43. Moreover, C. butyricum prevented EMT and VM and inhibited tumor metastasis in nude mice. Accordingly, C. butyricum could inhibit EMT and VM formation of intestinal carcinogenesis through downregulating METTL3. These findings broaden our understanding of probiotics supplement in CRC prevention and treatment.
Asymptomatic idiopathic intracranial hypertension: Prevalence and prognosis
Authors: Thaller Mark , Homer Victoria , Mollan Susan P. , Sinclair Alexandra J. 
Published: May 2023

AbstractBackgroundLittle is known about the presentation and prognosis of asymptomatic idiopathic intracranial hypertension (IIH). Papilloedema can be found incidentally on routine fundus examination, with many of these patients actually having symptoms on direct questioning. The aim was to evaluate visual and headache outcomes in people with IIH who present with or without symptoms.MethodsProspective observational cohort study, between 2012 and 2021, 343 people with confirmed IIH diagnosis were enrolled in the IIH:Life database. Outcomes such as vision (LogMAR); Humphrey visual field perimetric mean deviation (PMD) and optical coherence tomography (OCT) and headache were evaluated using LOESS (locally weighted scatterplot smoothing) graphs and regression analysis.ResultsOne hundred and twenty‐one people had incidentally found papilloedema, with 36 people with completely asymptomatic presentations. Those with asymptomatic IIH at diagnosis had similar visual prognosis compared to those with symptomatic disease. Sixty‐six percent of the asymptomatic cohort became symptomatic during follow‐up, and of these the predominant symptom was headache (96%). Headache frequency during follow‐up was lower in the asymptomatic cohort.ConclusionsThe prognosis of those with IIH who present with or without symptoms is similar.
Functional characterization of a novel PRRT2 variant found in a Portuguese patient with hemiplegic migraine
Authors: Dias Andreia , Santos Mariana , Carvalho Estefânia , Felício Daniela , Silva Paulo , Alves Ivânia , Pinho Teresa , Sousa Alda , Alves‐Ferreira Miguel , Lemos Carolina 
Published: May 2023

AbstractFamilial hemiplegic migraine (FHM) is a rare autosomal‐dominant form of migraine with aura. Three disease‐causing genes have been identified for FHM: CACNA1A, ATP1A2 and SCN1A. However, not all families are linked to one of these three genes.PRRT2 variants were also commonly associated with HM symptoms; therefore, PRRT2 is hypothesized as the fourth gene causing FHM. PRRT2 plays an important role in neuronal migration, spinogenesis, and synapse mechanisms during development and calcium‐dependent neurotransmitter release. We performed exome sequencing to unravel the genetic cause of migraine in one family, and a novel PRRT2 variant (c.938C > T;p.Ala313Val) was identified with further functional studies to confirm its pathogenicity. PRRT2‐A313V reduced protein stability, led to protein premature degradation by the proteasome and altered the subcellular localization of PRRT2 from the plasma membrane (PM) to the cytoplasm. We identified and characterized for the first time in a Portuguese patient, a novel heterozygous missense variant in PRRT2 associated with HM symptoms. We suggest that PRRT2 should be included in the diagnosis of HM.
Relevance of kappa free light chains index in patients with aquaporin‐4 or myelin‐oligodendrocyte‐glycoprotein antibodies
Authors: Deschamps Romain , Shor Natalia , Papeix Caroline , Boudot de la Motte Marine , Bensa Caroline , Marignier Romain , Lecler Augustin , Vignal‐Clermont Catherine , Ghillani Pascale , Gazzano Marianne , Maillart Elisabeth , Sterlin Delphine 
Published: May 2023

AbstractBackgroundThe kappa free light chains index (κ‐index) is increasing in importance as a fast, easy, cost‐effective, and quantitative biomarker in multiple sclerosis (MS), which can replace cerebrospinal fluid (CSF)‐restricted oligoclonal bands (OCB) detection. In previous studies, controls often included mixed patients with several inflammatory central nervous system disorders. The aim of the present study was to assess the κ‐index in patients with serum aquaporin‐4 (AQP4)‐IgG or myelin‐oligodendrocyte‐glycoprotein (MOG)‐IgG.MethodsWe analyzed CSF/serum samples of patients with AQP4‐IgG or MOG‐Ig and evaluated distinct κ‐index cut‐offs. We described clinical and magnetic resonance imaging (MRI) features of patients with the highest κ‐index values.ResultsIn 11 patients with AQP4‐IgG, median κ‐index was 16.8 (range 0.2; 63) and 6/11 (54.5%) had κ‐index >12. Among 42 patients with MOG‐IgG, 2 had low positive MOG‐IgG titers, were ultimately diagnosed with MS, and had a markedly increased κ‐index (54.1 and 102.5 respectively). For the remaining 40 MOG‐IgG‐positive patients the median κ‐index was 0.3 (range 0.1; 15.5). Some 6/40 (15%) and 1/40 (2.5%) patients had a κ‐index >6 and >12, respectively. None fulfilled MRI dissemination in space and dissemination in time (DIS/DIT) criteria and the final diagnosis was MOG‐IgG‐associated disease (MOGAD) for these 40 patients. Four of the 40 (10%) MOG‐IgG‐positive patients had OCB.ConclusionWhile a marked increase in κ‐index could discriminate MS from MOGAD, a low κ‐index threshold could lead to confusion between MS and MOGAD or AQP4 antibody‐positive neuromyelitis optica spectrum disorder.
Seascape genomics reveals limited dispersal and suggests spatially varying selection among European populations of sea lamprey (Petromyzon marinus)
Authors: Baltazar‐Soares Miguel , Britton J. Robert , Pinder Adrian , Harrison Andrew J. , Nunn Andrew D. , Quintella Bernardo R. , Mateus Catarina S. , Bolland Jonathan D. , Dodd Jamie R. , Almeida Pedro R. , Dominguez Almela Victoria , Andreou Demetra 
Published: May 2023

AbstractSea lamprey Petromyzon marinus is an anadromous and semelparous fish without homing behaviors. Despite being a freshwater, free‐living organism for a large part of their life cycle, its adulthood is spent as a parasite of marine vertebrates. In their native European range, while it is well‐established that sea lampreys comprise a single nearly‐panmictic population, few studies have further explored the evolutionary history of natural populations. Here, we performed the first genome‐wide characterization of sea lamprey's genetic diversity in their European natural range. The objectives were to investigate the connectivity among river basins and explore evolutionary processes mediating dispersal during the marine phase, with the sequencing of 186 individuals from 8 locations spanning the North Eastern Atlantic coast and the North Sea with double‐digest RAD‐sequencing, obtaining a total of 30,910 bi‐allelic SNPs. Population genetic analyses reinforced the existence of a single metapopulation encompassing freshwater spawning sites within the North Eastern Atlantic and the North Sea, though the prevalence of private alleles at northern latitudes suggested some limits to the species' dispersal. Seascape genomics suggested a scenario where oxygen concentration and river runoffs impose spatially varying selection across their distribution range. Exploring associations with the abundance of potential hosts further suggested that hake and cod could also impose selective pressures, although the nature of such putative biotic interactions was unresolved. Overall, the identification of adaptive seascapes in a panmictic anadromous species could contribute to conservation practices by providing information for restoration activities to mitigate local extinctions on freshwater sites.
Multi‐scale relationships in thermal limits within and between two cold‐water frog species uncover different trends in physiological vulnerability
Authors: Cicchino Amanda S. , Shah Alisha A. , Forester Brenna R. , Dunham Jason B. , Ghalambor Cameron K. , Funk W. Chris 
Published: May 2023

Abstract1. Critical thermal limits represent an important component of an organism's capacity to cope with future temperature changes. Understanding the drivers of variation in these traits may uncover patterns in physiological vulnerability to climate change. Local temperature extremes have emerged as a major driver of thermal limits, although their effects can be mediated by the exploitation of fine‐scale spatial variation in temperature through behavioural thermoregulation.2. Here, we investigated thermal limits along elevation gradients within and between two cold‐water frog species (Ascaphusspp.), one with a coastal distribution (A. truei) and the other with a continental range (A. montanus). We quantified thermal limits for over 700 tadpoles, representing multiple populations from each species. We combined local temporal and fine‐scale spatial temperature data to quantify local thermal landscapes (i.e., thermalscapes), including the opportunity for behavioural thermoregulation.3. Lower thermal limits for either species could not be reached experimentally without the water freezing, suggesting that cold tolerance is <0.3°C. By contrast, upper thermal limits varied among populations, but this variation only reflected local temperature extremes inA. montanus, perhaps as a consequence of the greater variation in stream temperatures across its range. Lastly, we found minimal fine‐scale spatial variability in temperature, suggesting limited opportunity for behavioural thermoregulation and thus increased vulnerability to warming for all populations.4. By quantifying local thermalscapes, we uncovered different trends in the relative vulnerability of populations across elevation for each species. InA. truei, physiological vulnerability decreased with elevation, whereas inA. montanus, all populations were equally physiologically vulnerable. These results highlight how similar environments can differentially shape physiological tolerance and patterns of vulnerability of species, and in turn impact their vulnerability to future warming.
Real‐world evidence on efmoroctocog alfa in patients with haemophilia A: A systematic literature review of treatment experience in Europe
Authors: Blatný Jan , Nielsen Emma Munk , Reitzel Signe Baattrup , McMillan Annabell Cajus , Danø Anne , Bystrická Linda , Kragh Nana , Klamroth Robert 
Published: May 2023

AbstractIntroductionThe real‐world effectiveness of the efmoroctocog alfa (recombinant FVIII Fc fusion protein, a rFVIIIFc) has been investigated in numerous studies, however, currently, there exists no comprehensive collection of the existing real‐world evidence (RWE) on the performance of prophylactic use of rFVIIIFc.AimThe aims of this systematic literature study were to identify, review, evaluate and collate the RWE of prophylactic rFVIIIFc for patients with haemophilia A reported in Europe.MethodsWe searched Medline and Embase from 2014 to February 2022 to identify publications reporting the effectiveness of rFVIIIFc in patients with haemophilia A. The outcomes of interest were annualised bleeding rates (ABR, AjBR, AsBR), injection frequency, factor consumption, adherence, development of inhibitors and quality‐of‐life measures.Results46 eligible publications (eight full‐text articles) were included. rFVIIIFc showed a low ABR in patients with haemophilia A. Studies assessing treatment switching from a standard half‐life (SHL) treatment to rFVIIIFc found that the ABR and consumption were reduced in most patients. Studies assessing rFVIIIFc effectiveness reported a median ABR between 0.0 and 2.0 with median injections per week ranging between 1.8 and 2.4 and median doses between 60 and 105 IU/kg/week. Of the studies assessing inhibitor development, only one study reported an incidence of a low titre inhibitor, and no patients developed clinically significant inhibitors.ConclusionrFVIIIFc prophylaxis treatment results in a low ABR across studies in patients with haemophilia A in a European real‐world setting, which correlates with findings from clinical trials assessing the efficacy of rFVIIIFc in patients with haemophilia A.
Interleukin‐21 receptor gene polymorphism (rs2285452 A/G) is associated with susceptibility to Behçet's disease
Authors: Lahmar Rajaa , Chabchoub Elyes , Zemni Ramzi , Anis Mzabi , Ghannouchi Neirouz , Slama Foued Ben Hadj 
Published: May 2023

AbstractBehçet's disease (BD) is a chronic auto inflammatory disorder of unknown aetiology. Recently, the dysregulation of interleukin‐21 receptor (IL‐21R) has been incriminated in different autoimmune and auto‐inflammatory diseases, such as systemic lupus erythematous, rheumatoid arthritis, and type 1 diabetes. Herein, we aimed to investigate the association of two Il‐21R gene polymorphisms with BD. IL‐21R rs2214537 and IL‐21R rs2285452 genotypings were investigated in a cohort of 110 adult patients with BD and 116 age and gender unmatched healthy controls. Genotyping was performed by mutagenically separated polymerase chain reaction with newly designed primers. IL‐21R rs2285452 genotypes and alleles distribution were statistically different between patients with BD and controls. GA and AA genotypes carrying the minor A allele were more frequent in patients with BD than in healthy controls (37.3% and 11.8% vs. 23.3% and 3.4%, respectively). The minor A allele was associated with an increased BD risk (odds ratios = 2.42, 95% confidence interval = 1.214.87, p = .005). IL‐21R rs2214537 GG genotype was found to be associated with susceptibility to BD in the recessive model (GG vs. CC + CG; p = .046, OR = 1.91, 95% CI = 1.003.650. IL‐21R rs2285452 and IL‐21R rs2214537 were not in linkage disequilibrium (D' = 0.42). The AG haplotype was more frequently observed in patients with BD than in controls (0.247 vs. 0.056, p = .0001). This study for the first time reports the association of IL‐21R rs2285452 and IL‐21R rs2214537 with BD. Functional studies are required to elucidate the exact role of these genetic variants.