bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic abnormalities in biopsy-proven, adult-onset hemolytic uremic syndrome and C3 glomerulopathy
Authors: Haydock Ludwig , Garneau Alexandre P. , Tremblay Laurence , Yen Hai-Yun , Gao Hanlin , Harrisson Raphaël , Isenring Paul 
Published: October 2021

Abstract
Atypical hemolytic uremic syndrome (aHUS) and C3 glomerulopathy (C3G) have been linked to mutations in many of the proteins that are involved in alternative complement pathway activation. Age and etiology confounded, the prevalence of such mutations has been reported to be over 30 to 50% in these diseases. However, the cohorts studied included many children or individuals with a familial history of complement-related disorders and genetic tests were usually limited to exome sequencing of known causative or risk-associated genes. In this study, a retrospective adult cohort of 35 patients with biopsy-proven thrombotic microangiopathy (the largest in Canada) and 10 patients with C3 glomerulopathy was tested through an extended exome panel to identify causative defects in associated or candidate genes including those of the alternative and terminal complement pathways. A variant of unknown significance was also analyzed for pathogenicity through in vitro studies. To our surprise, the prevalence of known causative or risk-associated variants in either of these cohorts was found to be less than ~ 15% overall. However, the panel used and analyses carried out allowed to identify novel variants of potential clinical significance and a number of candidate genes. The prevalence of known genetic defects in adult-onset aHUS and C3G is thus probably much lower than 30 to 50%. Our results also point towards the importance of investigating diseases of the alternative complement pathway through extended exome panels and in vitro analyses.

Key messages

The alternative complement pathway plays a major role in the pathogenesis of hemolytic uremic syndrome and C3 glomerulopathy.

Based on previous studies, both disorders have been commonly linked to variants in the various intermediates that sustain or regulate this pathway.

The prevalence of such mutations in the adult-onset and sporadic forms of these diseases is probably much lower than expected based on larger series.

The sporadic forms of complementopathies are likely to involve additional genes that are yet to be uncovered.
New perspectives in regenerative medicine and surgery: the bioactive composite therapies (BACTs)
Authors: Zocchi Michele L. , Facchin Federico , Pagani Andrea , Bonino Claudia , Sbarbati Andrea , Conti Giamaica , Vindigni Vincenzo , Bassetto Franco 
Published: October 2021

AbstractRegenerative medicine and surgery is a rapidly expanding branch of translational research in tissue engineering, cellular and molecular biology.To date, the methods to improve cell intake, survival, and isolation need to comply with a complex and still unclear regulatory frame, becoming everyday more restrictive and often limiting the effectiveness and outcome of the therapeutic choices. Thus, the authors developed a novel 360° regenerative strategy based on the synergic action of several new components called the bioactive composite therapies (BACTs) to improve grafted cells intake, and survival in total compliance with the legal and ethical limits of the current regulatory frame.The rationale at the origin of this new technology is based on the evidence that cells need supportive substrate to survive in vitro and this observation, applying the concept of translational medicine, is true also in vivo. Bioactive composite mixtures (BACMs) are tailor-made bioactive mixtures containing several bioactive components that support cells’ survival and induce a regenerative response in vivo by stimulating the recipient site to act as an in situ real bioreactor. Many different tissues have been used in the past for the isolation of cells, molecules, and growth factors, but the adipose tissue and its stromal vascular fraction (SVF) remains the most valuable, abundant, safe, and reliable source of regenerative components and particularly of adipose-derived stems cells (ADSCs). The role of plastic surgeons as the historical experts in all the most advanced techniques for harvesting, manipulating, and grafting adipose tissue is fundamental in this constant process of expansion of regenerative procedures. In this article, we analyze the main causes of cell death and the strategies for preventing it, and we present all the technical steps for preparing the main components of BACMs and the different mixing modalities to obtain the most efficient regenerative action on different clinical and pathological conditions. The second section of this work is dedicated to the logical and sequential evolution from simple bioactive composite grafts (BACGs) that distinguished our initial approach to regenerative medicine, to BACTs where many other fundamental technical steps are analyzed and integrated for supporting and enhancing the most efficient regenerative activity. Level of Evidence: Not gradable
Reliability of pediatric ventricular function analysis by short-axis “single-cycle-stack-advance” single-shot compressed-sensing cines in minimal breath-hold time
Authors: Hatipoglu Suzan , Gatehouse Peter , Krupickova Sylvia , Banya Winston , Daubeney Piers , Almogheer Batool , Izgi Cemil , Weale Peter , Hayes Carmel , Firmin David , Pennell Dudley J. 
Published: October 2021

Abstract
Objectives
Cardiovascular magnetic resonance (CMR) cine imaging by compressed sensing (CS) is promising for patients unable to tolerate long breath-holding. However, the need for a steady-state free-precession (SSFP) preparation cardiac cycle for each slice extends the breath-hold duration (e.g. for 10 slices, 20 cardiac cycles) to an impractical length. We investigated a method reducing breath-hold duration by half and assessed its reliability for biventricular volume analysis in a pediatric population.

Methods
Fifty-five consecutive pediatric patients (median age 12 years, range 7–17) referred for assessment of congenital heart disease or cardiomyopathy were included. Conventional multiple breath-hold SSFP short-axis (SAX) stack cines served as the reference. Real-time CS SSFP cines were applied without the steady-state preparation cycle preceding each SAX cine slice, accepting the limitation of omitting late diastole. The total acquisition time was 1 RR interval/slice. Volumetric analysis was performed for conventional and “single-cycle-stack-advance” (SCSA) cine stacks.

Results
Bland–Altman analyses [bias (limits of agreement)] showed good agreement in left ventricular (LV) end-diastolic volume (EDV) [3.6 mL (− 5.8, 12.9)], LV end-systolic volume (ESV) [1.3 mL (− 6.0, 8.6)], LV ejection fraction (EF) [0.1% (− 4.9, 5.1)], right ventricular (RV) EDV [3.5 mL (− 3.34, 10.0)], RV ESV [− 0.23 mL (− 7.4, 6.9)], and RV EF [1.70%, (− 3.7, 7.1)] with a trend toward underestimating LV and RV EDVs with the SCSA method. Image quality was comparable for both methods (p = 0.37).

Conclusions
LV and RV volumetric parameters agreed well between the SCSA and the conventional sequences. The SCSA method halves the breath-hold duration of the commercially available CS sequence and is a reliable alternative for volumetric analysis in a pediatric population.

Key Points
• Compressed sensing is a promising accelerated cardiovascular magnetic resonance imaging technique.
• We omitted the steady-state preparation cardiac cycle preceding each cine slice in compressed sensing and achieved an acquisition speed of 1 RR interval/slice.
• This modification called “single-cycle-stack-advance” enabled the acquisition of an entire short-axis cine stack in a single short breath hold.
• When tested in a pediatric patient group, the left and right ventricular volumetric parameters agreed well between the “single-cycle-stack-advance” and the conventional sequences.
ISS and integral-ISS of switched systems with nonlinear supply functions
Authors: Liu Shenyu , Tanwani Aneel , Liberzon Daniel 
Published: October 2021

AbstractThe problem of input-to-state stability (ISS) and its integral version (iISS) are considered for switched nonlinear systems with inputs, resets and possibly unstable subsystems. For the dissipation inequalities associated with the Lyapunov function of each subsystem, it is assumed that the supply functions, which characterize the decay rate and ISS/iISS gains of the subsystems, are nonlinear. The change in the value of Lyapunov functions at switching instants is described by a sum of growth and gain functions, which are also nonlinear. Using the notion of average dwell-time (ADT) to limit the number of switching instants on an interval, and the notion of average activation time (AAT) to limit the activation time for unstable systems, a formula relating ADT and AAT is derived to guarantee ISS/iISS of the switched system. Case studies of switched systems with saturating dynamics and switched bilinear systems are included for illustration of the results.
Point of care echocardiography and lung ultrasound in critically ill patients with COVID-19
Authors: Altersberger Martin , Schneider Matthias , Schiller Martina , Binder-Rodriguez Christina , Genger Martin , Khafaga Mounir , Binder Thomas , Prosch Helmut 
Published: October 2021

SummaryHundreds of millions got infected, and millions have died worldwide and still the number of cases is rising.Chest radiographs and computed tomography (CT) are useful for imaging the lung but their use in infectious diseases is limited due to hygiene and availability.Lung ultrasound has been shown to be useful in the context of the pandemic, providing clinicians with valuable insights and helping identify complications such as pleural effusion in heart failure or bacterial superinfections. Moreover, lung ultrasound is useful for identifying possible complications of procedures, in particular, pneumothorax.Associations between coronavirus disease 2019 (COVID-19) and cardiac complications, such as acute myocardial infarction and myocarditis, have been reported. As such, point of care echocardiography as well as a comprehensive approach in later stages of the disease provide important information for optimally diagnosing and treating complications of COVID-19.In our experience, lung ultrasound in combination with echocardiography, has a great impact on treatment decisions. In the acute state as well as in the follow-up setting after a severe or critical state of COVID-19, ultrasound can be of great impact to monitor the progression and regression of disease.
Twentieth century temperature and snow cover changes in the French Alps
Authors: Beaumet Julien , Ménégoz Martin , Morin Samuel , Gallée Hubert , Fettweis Xavier , Six Delphine , Vincent Christian , Wilhelm Bruno , Anquetin Sandrine 
Published: October 2021

AbstractChanges in snow cover associated with the warming of the French Alps greatly influence social-ecological systems through their impact on water resources, mountain ecosystems, economic activities, and glacier mass balance. In this study, we investigated trends in snow cover and temperature over the twentieth century using climate model and reanalysis data. The evolution of temperature, precipitation and snow cover in the European Alps has been simulated with the Modèle Atmospherique Régional (MAR) applied with a 7-km horizontal resolution and driven by ERA-20C (1902-2010) and ERA5 (1981–2018) reanalyses data. Snow cover duration and snow water equivalent (SWE) simulated with MAR are compared to the SAFRAN - SURFEX-ISBA-Crocus - MEPRA meteorological and snow cover reanalysis (S2M) data across the French Alps (1958–2018) and in situ glacier mass balance measurements. MAR outputs provide a realistic distribution of SWE and snow cover duration as a function of elevation in the French Alps. Large disagreements are found between the datasets in terms of absolute warming trends over the second part of the twentieth century. MAR and S2M trends are in relatively good agreement for the decrease in snow cover duration, with higher decreases at low elevation ($\sim $
∼
5–10%/decade). Consistent with other studies, the highest warming rates in MAR occur at low elevations (< 1000 m a.s.l) in winter, whereas they are found at high elevations (> 2000 m a.s.l) in summer. In spring, warming trends show a maximum at intermediate elevations (1500 to 1800 m). Our results suggest that higher warming at these elevations is mostly linked to the snow-albedo feedback in spring and summer caused by the disappearance of snow cover at higher elevation during these seasons. This work has evidenced that depending on the season and the period considered, enhanced warming at higher elevations may or may not be found. Additional analysis in a physically comprehensive way and more high-quality dataset, especially at high elevations, are still required to better constrain and quantify climate change impacts in the Alps and its relation to elevation.
Long-term risk of shunt failure after brain tumor surgery
Authors: Hosainey Sayied Abdol Mohieb , Lykkedrang Benjamin Lassen , Meling Torstein R. 
Published: October 2021

AbstractLong-term risks and survival times of ventriculoperitoneal (VP) shunts implanted due to hydrocephalus (HC) after craniotomy for brain tumors are largely unknown. The aim of this study was to establish the overall VP shunt survival rates during a decade after shunt insertion and to determine risks of shunt failure after brain tumor surgery in the long-term period. In this population-based cohort from a well-defined geographical region, all adult patients (> 18 years) from 2004 to 2013 who underwent craniotomies for intracranial tumors leading to VP shunt dependency were included. Our brain tumor database was cross-linked to procedure codes for shunt surgery (codes AAF) to extract brain tumor patients who became VP shunt dependent after craniotomy. The VP shunt survival time, i.e. the shunt longevity, was calculated from the day of shunt insertion after brain tumor surgery until the day of its failure. A total of 4174 patients underwent craniotomies, of whom 85 became VP shunt dependent (2%) afterwards. Twenty-eight patients (33%) had one or more shunt failures during their long-term follow-up, yielding 1-, 5-, and 10-year shunt success rates of 77%, 71%, and 67%, respectively. Patient age, sex, tumor location, primary/repeat craniotomy, placement of external ventricular drainage (EVD), ventricular entry, post-craniotomy hemorrhage, post-shunting meningitis/infection, and multiple shunt revisions were not statistically significant risk factors for shunt failure. Median shunt longevity was 457.5 days and 21.5 days for those with and without pre-craniotomy HC, respectively (p < 0.01). This study can serve as benchmark for future studies.
Assessment of the efficiency of different chemical treatments and ultrasonic cleaning for defatting of cancellous bone samples
Authors: Wang Fangxing , Metzner Florian , Osterhoff Georg , Schleifenbaum Stefan 
Published: October 2021

AbstractOur study aimed to asses the defatting efficiency of different methods, which are commonly used and easily available in the laboratory in order to find a method that is effective, convenient, safe, and economical. Cylindrical cancellous bone specimens were obtained from fresh-frozen human cadaver femoral condyles, cut into multiple small specimens (Ø8 × 2 mm), and assigned to two groups that were treated with either chemical solvent soaking (Solvent group) or ultrasonic cleaning (Ultrasound group). Each group was divided into several subgroups based on different treatments. Digital photographs were taken of each specimen. The difference of material density (Δρb), apparent density (Δρapp), and porosity (ΔP) before and after treatment were used as evaluation indicators. For the solvent group, in Δρb, only the combination of 99% ethanol and detergent solution showed a significant difference before and after treatment (P = 0.00). There was no significant difference in ΔP among acetone, the mixture of 99% ethanol and acetone, and the combination of 99% ethanol and detergent solution (P = 0.93). For the ultrasound group, the median of all subgroups in Δρapp and ΔP were all lower than the solvent group. The combination of 99% ethanol and detergent solution (v/v = 1:20), as well as the mixture of 99% ethanol and acetone (v/v = 1:1), seem to be the optimal defatting methods for 2 mm thick cancellous bone slices due to their effectiveness, availability, low-cost and safety. Chemical soaking for 24 h is more effective than ultrasonic cleaning with 99% ethanol or acetone for 20 or 40 min.
The Role of Individual Differences in Sourcing: a Systematic Review
Authors: Anmarkrud Øistein , Bråten Ivar , Florit Elena , Mason Lucia 
Published: October 2021

AbstractThis article reviews how individual differences have been conceptualized and researched within the area of multiple document literacy, in particular the extent to which proposed relationships between individual differences and the multiple document literacy process of sourcing have been supported by the empirical research. The findings showed that although the majority of the individual differences included in theoretical models of multiple document literacy have been researched, the empirical backing of proposed relationships is rather ambiguous. Still, in-depth analyses of the most researched individual differences in relation to sourcing revealed some interesting and interpretable patterns. Further, the review suggested that relationships between individual differences and sourcing may vary not only with the way sourcing is measured but also with the domain or topic addressed in the reading materials. We discuss the current status of research on individual differences in the context of multiple document literacy with a focus on sourcing and suggest potential avenues for further clarifications.
Deep current structure in the Toyama Deep-Sea Channel in the Japan Sea
Authors: Senjyu Tomoharu 
Published: October 2021

AbstractThe flow field in the Toyama Deep-Sea Channel (TDSC) in the Japan Sea was investigated based on mooring observations. An asymmetric current system accompanying offshore and onshore currents over the east- and west-side slopes in the channel, respectively, is suggested. A bottom intensified flow characteristic was observed at the offshore stations in the Yamato Basin. The asymmetric current system in the channel is also suggested by the asymmetric distribution of water characteristics across the TDSC in Toyama Bay; a cold dense water mass with higher dissolved oxygen (DO) and higher transmittance (Tr) was found over the west-side slope of the channel, whereas a water mass with lower DO and lower Tr was distributed over the east-side slope, suggesting a turbidity current from the head of Toyama Bay. The currents facing the shallower depth on their right-hand-side, along with the density distribution in the TDSC, suggest a density current system under the influence of the earth’s rotation. The dissolved oxygen concentration in the TDSC was significantly lower than that in the offshore region of the same temperature range. This suggests that the water mass over the west-side slope in the TDSC is a modified offshore water mass which experienced significant mixing with the low DO water mass over the east-side slope in the TDSC, probably due to strong shear between the offshore and onshore currents in the narrow channel.
The Acceptance and Use of the e-Health Instrument ‘The Personal Health Check’ in Four Dutch Municipalities: Lessons Learned
Authors: Rombouts M. , Raaijmakers L. G. M. , Kuunders T. J. M. , Van Steijn-Martens R. , de Vuijst T. , van Donkersgoed H. , van de Goor L. A. M. 
Published: October 2021

AbstractThis pilot study assessed the acceptance and use of the e-Health instrument “the Personal Health Check” (PHC) among clients and professionals in primary care settings. By filling in the online PHC instrument, participants were provided insights into their health and lifestyle. When results revealed an increased health risk, participants were advised to undertake additional lab tests measuring blood pressure and haemaglobin levels. Based on the online questionnaire and optional lab tests, participants then received a report that included individually-tailored feedback from the e-Health application about personal health risks and suggestions for health interventions. The PHC was implemented in 2016 in four Dutch municipalities that determined which neighbourhood(s) the PHC targeted and how participants were invited. The Unified Theory of Acceptance and Use of Technology was used as a theoretical framework to address our research questions. Methods used to assess acceptance were: PHC instrument data, data from additional questionnaires completed by PHC participants, focus groups with PHC participants and professionals in primary care, and telephone interviews with non-responders to the invitation to participate in the online PHC. Of the 21,735 invited, 12% participated. Our results showed that participants and professionals in this pilot were predominantly positive about the PHC. Participants reported that they made an effort to apply the PHC lifestyle advice they received. Almost all had the knowledge and resources needed to use the PHC online instrument. Invitations from general practitioners almost doubled participation relative to invitations from the sponsoring municipalities. The overall low response rate, however, suggests that the PHC is unsuitable as a foundation on which to develop local public health policy.
Traveling between worlds: repositioning methods and theory for research into coupled socio-ecological systems
Authors: Gerrits Lasse 
Published: October 2021

Abstract
Context
This paper engages with the question of how one can arrive at more coherent explanations of social behavior in coupled socio-ecological systems.

Objectives
The paper aims to give a counterargument to the assumption that social theory in coupled socio-ecological systems can only be developed in one way, as such showing that the premise of the special issue deserves further scrutiny.

Methods
Current issues are identified and categorized based on a literature survey; likewise, the solutions derive from methodological literature, in particular from the realm of critical realism.

Results
The paper shows how a set of assumptions about the nature of socio-ecological systems and about the nature of theory derived from observations prohibit a deeper understanding of how social theory may be developed at the nexus of coupled socio-ecological systems. Researchers should engage more clearly with movements between theories, models and data, and movements between ontology, epistemology and data.

Conclusions
Landscape ecology can—and should—accommodate social theory in its analysis but from a different premise than is currently often the case. The proposed operations will contribute to a complexity-informed understanding of human behavior in coupled socio-ecological systems.