bluuebunny/crossref_metadata_2025_split huggingface dataset:
SIRT1 rs7896005 polymorphism affects major vascular outcomes, not all‐cause mortality, in Caucasians with type 2 diabetes: A 13‐year observational study
Authors: Dardano Angela , Lucchesi Daniela , Garofolo Monia , Gualdani Elisa , Falcetta Pierpaolo , Sancho Bornez Veronica , Francesconi Paolo , Del Prato Stefano , Penno Giuseppe 
Published: January 2022

AbstractAimsSIRT1 exerts effects on ageing and lifespan, as well cardiovascular (CV) disease risk. SIRT1 gene is very polymorph with a few tagging single nucleotide polymorphisms (SNPs) so far identified. Some SNPs, including rs7896005, were associated with type 2 diabetes (T2DM). We aimed to ascertain whether this SNP may be associated with CV disease at baseline as well with these same outcomes and all‐cause mortality over a 13‐year follow‐up.Materials and MethodsGenotypes of SIRT1 gene were determined using TaqMan SNP assay.ResultsOut of 905 T2DM, 9.1% had the AA genotype, 43.2% the AG, and 47.7% the GG. Hardy–Weinberg Equilibrium was met (minor allele frequency 0.306; p = 0.8899). At baseline, there was no difference across genotypes for sex, age, diabetes duration, CV risk factors, treatments, and microangiopathy. Major CV outcomes, myocardial infarction (MI), any coronary heart disease (CHD), and peripheral artery disease (PAD) were more frequent in GG than in AA/AG (p from 0.013 to 0.027), with no association with cerebrovascular events. By fully adjusted regression, GG remained independently related to major CV outcomes, MI, CHD, and PAD. Over follow‐up, we recorded 258 major CV events (28.5%; AA/AG 25.2%, GG 32.2%; p = 0.014) with an adjusted hazard ratio (HR) of GG versus AA/AG of 1.296 (95% CI 1.007–1.668, p = 0.044); 169 coronary events (18.7%; AA/AG 15.4%, GG 22.2%; p = 0.006) with HR 1.522 (1.113–2.080, p = 0.008); 79 (8.7%) hospitalisation for heart failure (AA/AG 7.0%, GG 10.6%; p = 0.045) and HR 1.457 (0.919–2.309, p = 0.109); 36 PAD (4.0%; AA/AG 2.3%, GG 5.8%; p = 0.007) with HR 2.225 (1.057–4.684, p = 0.035). No association was found with cerebrovascular events, end stage renal disease, and all‐cause mortality.ConclusionsThe rs7896005 SNP of SIRT1 might play a role in cardiovascular disease, mainly CHD risk in T2DM. Results call for larger association studies as well as studies to ascertain mechanisms by which this variant confers increased risk.
Embryonic and early postnatal cranial bone volume and tissue mineral density values for C57BL/6J laboratory mice
Authors: Lesciotto Kate M. , Tomlinson Lauren , Leonard Steven , Richtsmeier Joan T. 
Published: January 2022

AbstractBackgroundLaboratory mice are routinely used in craniofacial research based on the relatively close genetic relationship and conservation of developmental pathways between humans and mice. Since genetic perturbations and disease states may have localized effects, data from individual cranial bones are valuable for the interpretation of experimental assays. We employ high‐resolution microcomputed tomography to characterize cranial bones of C57BL/6J mice at embryonic day (E) 15.5 and E17.5, day of birth (P0), and postnatal day 7 (P7) and provide estimates of individual bone volume and tissue mineral density (TMD).ResultsAverage volume and TMD values are reported for individual bones. Significant differences in volume and TMD during embryonic ages likely reflect early mineralization of cranial neural crest‐derived and intramembranously forming bones. Although bones of the face and vault had higher TMD values during embryonic ages, bones of the braincase floor had significantly higher TMD values by P7.ConclusionsThese ontogenetic data on cranial bone volume and TMD serve as a reference standard for future studies using mice bred on a C57BL/6J genetic background. Our findings also highlight the importance of differentiating “control” data from mice that are presented as “unaffected” littermates, particularly when carrying a single copy of a cre‐recombinase gene.
Using eDNA presence/non‐detection data to characterize the abiotic and biotic habitat requirements of a rare, elusive amphibian
Authors: Perl Ronith Gila Bina , Avidor Ella , Roll Uri , Malka Yoram , Geffen Eli , Gafny Sarig 
Published: January 2022

AbstractThe environmental DNA (eDNA) approach has already been established as a valuable tool for the detection and monitoring of rare and elusive species. However, its application is not limited to assessing whether or not a species is present in a given area. In this study, we collected environmental data from 48 aquatic locations that had previously been investigated in an eDNA‐based study. We sought to determine the abiotic and biotic factors that could explain the presence or non‐detection of Hula painted frog DNA at those locations, in order to characterize this rare species’ little studied habitat requirements. We found that the detection probability of this species decreased substantially with increasing phosphorus loads as well as in the presence of the wetland plant Lythrum salicaria. By contrast, the detection probability increased markedly when Phragmites australis or Ludwigia stolonifera constituted part of the dominant aquatic vegetation. Our results expand the knowledge on this elusive frog species and contribute valuable information for future habitat restoration plans. They further show that eDNA data can also be used to characterize the putative habitats of species where such data are scarce or even totally lacking.
HFA‐PEFF score: prognosis in patients with preserved ejection fraction after transcatheter aortic valve implantation
Authors: Seoudy Hatim , von Eberstein Mira , Frank Johanne , Thomann Maren , Puehler Thomas , Lutter Georg , Lutz Matthias , Bramlage Peter , Frey Norbert , Saad Mohammed , Frank Derk 
Published: January 2022

AbstractAimsMany transcatheter aortic valve implantation (TAVI) candidates have underlying heart failure with preserved ejection fraction (HFpEF) in addition to symptomatic aortic stenosis. Diagnosis of HFpEF is challenging. The Heart Failure Association of the European Society of Cardiology proposed the HFA‐PEFF score as part of a novel diagnostic algorithm. This study assessed the prognostic value of the HFA‐PEFF score in patients with preserved ejection fraction after TAVI.Methods and resultsThis single‐centre study included 570 consecutive TAVI patients with a preserved left ventricular ejection fraction of ≥50%. Patients with an HFA‐PEFF score of ≥5 [n = 239 (41.9%)] were compared with those with <5 points [n = 331 (58.1%)]. The primary outcome was a composite of all‐cause mortality or first heart failure rehospitalization within 1 year after TAVI. Secondary endpoints were the individual components of the primary outcome. Patients with an HFA‐PEFF score ≥ 5 had higher rates of comorbidities commonly associated with HFpEF, a higher rate of new pacemaker implantation after TAVI, were at increased risk of the primary composite endpoint (25.5% vs. 10.0%, P < 0.001), and rehospitalization for heart failure (11.7% vs. 3.9%, P < 0.001). Multivariable analysis confirmed an HFA‐PEFF score ≥ 5 as an independent risk factor for the composite endpoint [hazard ratio 2.70, 95% confidence interval (CI) 1.70–4.28, P < 0.001] and for all‐cause mortality (hazard ratio 2.58, 95% CI 1.46–4.53, P = 0.001).ConclusionThe HFA‐PEFF score is associated with all‐cause mortality and heart failure rehospitalization in patients with preserved ejection fraction after TAVI. This practical tool can easily be incorporated into risk stratification algorithms for TAVI patients.
Initial properdin binding contributes to alternative pathway activation at the surface of viable and necrotic cells
Authors: van Essen Mieke F. , Schlagwein Nicole , van den Hoven Elisa M.P. , van Gijlswijk‐Janssen Daniëlle J. , Lubbers Rosalie , van den Bos Ramon M. , van den Born Jacob , Ruben Jurjen M. , Trouw Leendert A. , van Kooten Cees ,   the COMBAT consortium
Published: January 2022

AbstractProperdin, the only known positive regulator of the complement system, stabilizes the C3 convertase, thereby increasing its half‐life. In contrast to most other complement factors, properdin is mainly produced extrahepatically by myeloid cells. Recent data suggest a role for properdin as a pattern recognition molecule. Here, we confirmed previous findings of properdin binding to different necrotic cells including Jurkat T cells. Binding can occur independent of C3, as demonstrated by HAP‐1 C3 KO cells, excluding a role for endogenous C3. In view of the cellular source of properdin, interaction with myeloid cells was examined. Properdin bound to the surface of viable monocyte‐derived pro‐ and anti‐inflammatory macrophages, but not to DCs. Binding was demonstrated for purified properdin as well as fractionated P2, P3, and P4 properdin oligomers. Binding contributed to local complement activation as determined by C3 and C5b‐9 deposition on the cell surfaces and seems a prerequisite for alternative pathway activation. Interaction of properdin with cell surfaces could be inhibited with the tick protein Salp20 and by different polysaccharides, depending on sulfation and chain length. These data identify properdin as a factor interacting with different cell surfaces, being either dead or alive, contributing to the local stimulation of complement activation.
Antiseizure medication discovery: Recent and future paradigm shifts
Authors: Talevi Alan 
Published: January 2022

AbstractDespite the ever‐increasing number of available options for the treatment of epilepsies and the remarkable advances on the understanding of their pathophysiology, the proportion of refractory patients has remained approximately unmodified during the last 100 years. How efficient are we translating positive outcomes from basic research to clinical trials and/or the clinical scenario? It is possible that fresh thinking and exploration of new paradigms are required to arrive at truly novel therapeutic solutions, as seemingly proven by recently approved first‐in‐class antiseizure medications and drug candidates undergoing late clinical trials. Here, the author discusses some approximations in line with the network pharmacology philosophy, which may result in highly innovative (and, hopefully, safer and/or more efficacious) medications for the control of seizures, as embodied with some recent examples in the field, namely tailored multi‐target agents and low‐affinity ligands.
Reconstruction of the Grenfell Tower fire—Part 5: Contribution to the understanding of the tenability conditions inside the apartments following the façade fire
Authors: Guillaume Eric , Dréan Virginie , Girardin Bertrand , Fateh Talal 
Published: January 2022

SummaryThe serious fire incident at Grenfell Tower in London, involving a combustible façade system that was installed as part of a major refurbishment of the building, has raised concerns regarding the fire risk that these systems pose. The fire spread over the façade of the Tower was previously numerically modelled and this model was validated by comparison with observational data. This model was used to determine the fire behavior of the façade and the fire's propagation into apartments through windows. In the present paper, impact models are used to evaluate tenability conditions inside the Tower, especially for the apartments in the first corner of the Tower that caught fire. The source of toxic effluents includes the components used in the refurbishment of the façade and the apartment furniture. Different hypotheses of gas yields are tested to assess variability and unknowns in the burning conditions. An extensive literature review was conducted to investigate the toxic yields to be considered in the simulations. Tenability conditions are assessed for each apartment during the fire spread over the façade. This leads to the quantification of the thermal and toxic environment inside the apartments. Two different models are tested for thermal and toxic threats, and the influence of the insulation material used in the façade is investigated. The results showed that the same conclusion can be made regardless of the input data for toxicity and the model used, within the limits of the studied dataset and conditions. Fires from the apartments quickly drive tenability conditions, independently of the dataset and model used, and even if mineral wool is used instead of poly‐isocyanurate as façade insulant.
Effect of different starch acetates on the quality characteristics of frozen cooked noodles
Authors: Zhang Kangyi , Zhao Di , Ma Xiaojing , Guo Dongxu , Tong Xiaofeng , Zhang Yun , Qu Lingbo 
Published: January 2022

AbstractThe physicochemical properties of starch acetates with an equal degree of substitution prepared from pea, corn, and wheat starch and their effects on frozen cooked noodle (FCN) quality were investigated. The result showed that the three kinds of starch acetates had different effects on the quality of FCN due to their different blue values, freeze‐thaw stability, and crystalline morphology analyzed by XRD (p < .05). The FCN with the addition of 20% CAS exhibited slow deterioration of textural properties during holding for 30 min. The analysis of the changes in the content of free SH group and glutenin macropolymer (GMP) demonstrated that the addition of CAS promoted protein disulfide cross‐linking and decreased protein mobility during holding. Fourier transform infrared spectroscopy (FT‐IR) revealed that FCN with the addition of CAS had low decrement in α‐helix and β‐sheet during holding, indicating that starch acetates contributed to the maintenance of the gluten network structure.
Psychoactive medication use and risk of suicide in long‐term care facility residents
Authors: Hedna Khedidja , Fastbom Johan , Jonson Mattias , Wilhelmson Katarina , Waern Margda 
Published: January 2022

AbstractObjectivesTo investigate psychoactive medication use and risk of suicide in long‐term care facility (LTCF) residents aged 75 and above. A second aim was to investigate the role of psychiatric and medical conditions in the occurrence of suicide in LTCF residents.MethodsA Swedish national register‐based cohort study of LTFC residents aged ≥75 years between 1 January 2008 and 31 December 2015, and followed until 31 December 2016 (N = 288,305). Fine and Gray regression models were used to analyse associations with suicide.ResultsThe study identified 110 suicides (15.8 per 100,000 person‐years). Half of these occurred during the first year of residence. Overall, 54% of those who died by suicide were on hypnotics and 45% were on antidepressants. Adjusted sub‐hazard ratio (aSHR) for suicide was decreased in those who were on antidepressants (aSHR 0.64, 95% confidence interval 0.42–0.97), even after the exclusion of residents who had healthcare contacts for dementia or were on anti‐dementia drugs. The aSHR for suicide was more than two‐fold higher in those who were on hypnotics (2.20, 1.46–3.31). Suicide risk was particularly elevated in those with an episode of self‐harm prior to LTCF admittance (15.78, 10.01–24.87). Specialized care for depression was associated with increased risk, while medical morbidity was not.ConclusionsA lower risk of suicide in LTCF residents was found in users of antidepressants, while elevated risk was observed in those on hypnotics. Our findings suggest that more can be done to prevent suicide in this setting.
Contrast‐enhanced CT and liver surface nodularity for the diagnosis of porto‐sinusoidal vascular disorder: A case‐control study
Authors: Valainathan Shantha Ram , Sartoris Riccardo , Elkrief Laure , Magaz Marta , Betancourt Fabian , Pellegrino Silvia , Nivolli Arianna , Dioguardi Burgio Marco , Flattet Yves , Terraz Sylvain , Drilhon Nicolas , Lazareth Marie , Herrou Julia , Bruno Onorina , Payance Audrey , Plessier Aurélie , Durand François , Ronot Maxime , Valla Dominique‐Charles , Paradis Valérie , Garcia‐Pagan Juan Carlos , Vilgrain Valérie , Rautou Pierre‐Emmanuel 
Published: January 2022

Abstract

Background and Aims
Porto‐sinusoidal vascular disorder (PSVD) is a rare and commonly overlooked cause of portal hypertension. The interest of CT analysis, including quantification of liver surface nodularity (LSN) for PSVD diagnosis has not been established. This study aimed at assessing the performance of LSN and CT features for a PSVD diagnosis in patients with signs of portal hypertension.

Approach and Results
This retrospective case‐control study included a learning cohort consisting of 50 patients with histologically proven PSVD, according to VALDIG criteria, and 100 control patients with histologically proven cirrhosis, matched on ascites. All patients and controls had at least one sign of portal hypertension and CT available within 1 year of liver biopsy. Principal component analysis of CT features separated patients with PSVD from patients with cirrhosis. Patients with PSVD had lower median LSN than those with cirrhosis (2.4 vs. 3.1, p < 0.001). Multivariate analysis identified LSN < 2.5 and normal‐sized or enlarged segment IV as independently associated with PSVD. Combination of these two features had a specificity of 90% for PSVD and a diagnostic accuracy of 84%. Even better results were obtained in an independent multicenter validation cohort including 53 patients with PSVD and 106 control patients with cirrhosis (specificity 94%, diagnostic accuracy 87%).

Conclusions
This study that included a total of 103 patients with PSVD and 206 patients with cirrhosis demonstrates that LSN < 2.5 combined with normal‐sized or enlarged segment IV strongly suggests PSVD in patients with signs of portal hypertension.
Combining experimental and modelling approaches to monitor the transport of an artificial tracer through the hyporheic zone
Authors: Houzé Clémence , Durand Véronique , Mügler Claude , Pessel Marc , Monvoisin Gaël , Courbet Christelle , Noûs Camille 
Published: January 2022

AbstractIn order to advance methodologies used in the investigation of Hyporheic Zone (HZ) mixing processes, this article combines experimental and modelling tools to follow a tracer injected into the river and infiltrating into the HZ. A highly concentrated sodium chloride solution was injected into the river; (i) the river conductivity, (ii) the riverbed resistivity by Electrical Resistivity Tomography (ERT) and (iii) vertically distributed chloride concentrations within the HZ were monitored. Both ERT and concentration measurements showed an infiltration depth of the tracer of 35 cm, and a partial recovery after injection, which was faster within the superficial layer that was found to be more resistive according to the ERT initial image. The modelling approach used the HydroGeoSphere code to model the coupling between river surface flows and HZ groundwater flows and transport processes. The model set‐up involved a 50 cm high existing riverbed step, a vertical contrast in HZ saturated hydraulic conductivity and the aquifer discharge flux. Fitting the vertical chloride profile, the adjusted values were 5 × 10−2 m s−1 for the saturated hydraulic conductivity of the first highly permeable layer below the riverbed, and 4 × 10−6 m s−1 for the aquifer discharge flux. The bottom layer saturated hydraulic conductivity was found to be at least 10 times lower than the value within the first layer. Numerical simulations showed that the two main parameters controlling the mixing within the HZ were the groundwater discharge and the saturated hydraulic conductivity first sediment layer of the riverbed. The riverbed step was found to be less significant here compared to these two parameters. The combination of experimental and modelling tools allowed us to quantify the aquifer discharge flux, which is complicated to investigate in the field without any model. Results of this study showed that combining modelling with ERT and vertically distributed chloride sampling allows the quantification of the main factors controlling the hyporheic exchange.
Novel insertion mutation in the PLA2G6 gene in an Iranian family with infantile neuroaxonal dystrophy
Authors: Rostampour Dorsa , Zolfaghari Mohammad Reza , Gholami Milad 
Published: January 2022

AbstractBackgroundInfantile neuroaxonal dystrophy is an autosomal recessive neurological disorder. Individuals with infantile neuroaxonal dystrophy experience progressive loss of vision, mental skills and muscular control, and other variable clinical signs. Pathogenic variants in the PLA2G6 gene, encoding phospholipase A2, are recognized to be the fundamental reason for infantile neuroaxonal dystrophy. This study aimed to detect pathogenic variant in a consanguine Iranian family with infantile neuroaxonal dystrophy.MethodsThe mutation screening was done by whole exome sequencing followed by direct Sanger sequencing.ResultsWe identified a homozygous insertion mutation, NM_003560: c.1548_1549insCG (p.G517Rfs*29) in exon 10 of PLA2G6 in the patient. The parents were heterozygous for variant.ConclusionsBecause of the clinical heterogeneity and rarity of infantile neuroaxonal dystrophy, whole exome sequencing is critical to confirm the diagnosis and is an excellent tool for INAD management.
Kynurenine pathway in Coronavirus disease (COVID‐19): Potential role in prognosis
Authors: Cihan Murat , Doğan Özlem , Ceran Serdar Ceyhan , Altunçekiç Yıldırım Arzu , Kurt Celali , Serdar Muhittin A. 
Published: January 2022

AbstractBackgroundIt is known that inflammatory responses play an important role in the pathophysiology of COVID‐19.AimsIn this study, we aimed to examine the role of kynurenine (KYN) metabolism on the severity of COVID‐19 disease AQ5.Materials & MethodsSeventy COVID‐19 patients of varying severity and 30 controls were included in the study. In addition to the classical laboratory parameters, KYN, tryptophan (TRP), kynurenic acid (KYNA), 3 hydroxykynurenine (3OHKYN), quinolinic acid (QA), and picolinic acid (PA) were measured with mass spectrometry.ResultsTRP, KYN, KYN:TRP ratio, KYNA, 3OHKYN, PA, and QA results were found to be significantly different in COVID‐19 patients (p < 0.001 for all). The KYN:TRP ratio and PA of severe COVID‐19 patients was statistically higher than that of mild‐moderate COVID‐19 patients (p < 0.001 for all). When results were examined, statistically significant correlations with KYN:TRP ratio, IL‐6, ferritin, and procalcitonin were only found in COVID‐19 patients. ROC analysis indicated that highest AUC values were obtained by KYN:TRP ratio and PA (0.751 vs 0.742). In determining the severity of COVID‐19 disease, the odd ratios (and confidence intervals) of KYN:TRP ratio and PA levels that were adjusted according to age, gender, and comorbidity were determined to be 1.44 (1.1–1.87, p = 0.008) and 1.06 (1.02–1.11, p = 0.006), respectively.Discussion & ConclusionAccording to the results of this study, KYN metabolites play a role in the pathophysiology of COVID‐19, especially KYN:TRP ratio and PA could be markers for identification of severe COVID‐19 cases.