bluuebunny/crossref_metadata_2025_split huggingface dataset:
Frequency of pathogenic/likely pathogenic germline variants in cancer‐related genes among children with acute leukemia in Saudi Arabia
Authors: Alsultan Abdulrahman , Essa Mohammed , Aljefri Abdullah , Ayas Mouhab , Alharbi Musa , Alkhayat Nawaf , Al‐Anzi Faisal , Yassin Fawwaz , Alkasim Fawaz , Alharbi Qasim , Abdullah Shaker , Jastaniah Wasil 
Published: May 2020

AbstractBackgroundThe frequency of pathogenic/likely pathogenic (P/LP) germline mutations in cancer‐related genes among children with cancer in highly consanguineous populations is not well studied.MethodsWhole‐exome sequencing of germline DNA was performed in 60 children with acute leukemia. We used the St. Jude Pediatric Cancer Variant Pathogenicity Information Exchange (PeCanPIE) data portal for the classification of germline variants by the St. Jude Medal Ceremony pipeline.ResultsFifty‐seven patients had acute lymphoblastic leukemia (ALL) and three patients had acute myeloid leukemia. Parental consanguinity was present in 27 (45%) patients. All patients were of Arab ancestry. Three patients (5%) had a history of cancer in their siblings. Five patients (8.3%) had P/LP germline mutations in cancer‐related genes. Three patients with B‐ALL had heterozygous pathogenic mutations in TP53, BRCA1, and BRCA2; one patient with B‐ALL had homozygous pathogenic mutation in PMS2; and one patient with T‐ALL had LP homozygous mutation in AK2 that was associated with reticular dysgenesis. Among patients who had history of parental consanguinity, three (11%) had P/LP germline mutations compared with two (8%) in the absence of parental consanguinity. Fourteen (23%) patients had gold medal variants in cancer‐related genes, 13 were heterozygous, and one was homozygous. Silver medal variants were present in 35 (58%) patients; all were heterozygous except one homozygous.ConclusionsChildren with acute leukemia in Saudi Arabia had low frequency of P/LP mutations in cancer‐related genes despite the high rate of consanguinity. Larger studies using whole‐genome sequencing are needed to further explore the heritability of childhood leukemia.
Training paraprofessionals who work with students with intellectual and developmental disabilities: What does the research say?
Authors: Brock Matthew E. , Anderson Eric J. 
Published: May 2020

AbstractFederal law allows for paraprofessionals to provide instruction to students with developmental disabilities if they are adequately trained and supervised, but how to best provide this training and support remains unclear. In this paper, we update a systematic review of experimental studies that test the efficacy of paraprofessional‐implemented interventions for students with developmental disabilities. We identified 36 studies published 2012–2019. An exciting development is that some researchers are shifting to testing teacher‐implemented training, therefore beginning to address important questions about the feasibility of widespread implementation under real‐world conditions. Based on findings across studies, recommendations for practice include that (a) paraprofessional roles be well‐defined and focused on the implementation of evidence‐based practices; (b) paraprofessional training should feature modeling, an implementation checklist, and performance feedback that is sustained over time; and (c) administrators should ensure that teachers have the time and support that are required for effective paraprofessional training and supervision.
A Comparison of the Armeo to Tabletop‐assisted Therapy Exercises as Supplemental Interventions in Acute Stroke Rehabilitation: A Randomized Single Blind Study
Authors: Esquenazi Alberto , Lee Stella , Watanabe Thomas , Nastaskin Alexey , McKee Casey , O'Neill James , Scheponik Katherine , May Jaun 
Published: May 2020

ObjectivesTo evaluate the feasibility of an additional therapeutic upper limb exercise (ULE) intervention in early phase post‐stroke rehabilitation and to assess outcomes of therapy using the Armeo Spring (ARMEO) versus Therapist‐assisted Table Top (TAT) interventions.DesignRandomized, single‐blind trial.SettingStroke acute inpatient rehabilitation unit.ParticipantsForty‐five participants early after first stroke, Fugl‐Meyer Assessment (FMA) score >8, Modified Ashworth score (MAS) of <3.InterventionsParticipants were randomized to TAT or ARMEO ULE in addition to the required 3 hours of 1:1 standard of care provided in an inpatient rehabilitation facility (IRF).Main Outcome MeasuresCompleted number of treatments; withdrawals; serious/adverse events; Functional Independence Measure (FIM) motor; FIM efficiency; FMA; MAS; elbow active (A) and passive (P) range of motion (ROM); and therapist effort measured by the Modified Borg Rating of Perceived Exertion Scale (RPE).ResultsPost‐intervention FIM and FMA scores increased but did not demonstrate any statistically significant differences between the intervention groups (P = .585, .962, partial n2 = .001, .001, respectively). There were no statistically significant differences in post‐intervention MAS elbow flexion and extension (P = .332, .252, partial n2 = .009, .007, respectively) and A/P ROM elbow extension between training groups (P = .841, .731, partial n2 = .001, .003, respectively). There was a statistically significant difference in post‐intervention A/P ROM elbow flexion between groups (P = .031, .018, partial n2 = .123, .146). Post‐intervention RPE did not show any statistically significant differences between the training groups (P = .128, partial n2 = .063). Total elbow range showed larger adjusted mean gains for the ARMEO. No serious adverse events were reported.ConclusionsThis study demonstrates that additional therapeutic ULE in the early phase of post‐stroke inpatient rehabilitation is feasible and that both interventions showed positive changes in selected outcomes.
Integrated qualitative analysis of polymer sample by pyrolysis–gas chromatography combined with high‐resolution mass spectrometry: Using accurate mass measurement results from both electron ionization and soft ionization
Authors: Ubukata Masaaki , Kubo Ayumi , Nagatomo Kenji , Hizume Takuhiro , Ishioka Haruki , Dane A. John , Cody Robert B. , Ueda Yoshihisa 
Published: May 2020

RationaleGas chromatography/mass spectrometry (GC/MS) is a powerful analytical tool used to separate and then identify volatile compounds through library database searches. However, as not all compounds are registered in these databases, it is not uncommon to detect unregistered components. Therefore, new analytical techniques were developed that utilize methods of identification beyond database searches alone.MethodsAcquire data by using electron ionization (EI) and soft ionization (SI) with high‐resolution mass spectrometry (HRMS). Use the EI mass spectra to library search for matches. Use the SI mass spectra for accurate mass analysis of the EI molecular ions. Conduct an isotope pattern analysis of the molecular ion to refine the possible candidate compositions. Use these compositions as a constraint for the accurate mass analysis of the EI fragment ions. If a given molecular ion formula is not correct, the EI fragment ions will not show good matches. Finally, all analytical results are integrated into a color‐coded qualitative analysis report.ResultsThe capabilities of this new integrated analytical method were assessed for a polymer resin sample that was measured by using pyrolysis–gas chromatography/high resolution time‐of‐flight mass spectrometry. A total of 161 compounds were detected in the total ion current chromatogram, and 154 of these compounds were identified as having only one chemical formula candidate with this new integrated qualitative analysis method.ConclusionsThis new integrated qualitative analysis method gives analytical results independent of library search results. It can be applied to a variety of SI methods including chemical ionization, photoionization, field ionization, and low‐energy EI.
β‐Carotene Stability and Some Physicochemical Properties of Apricot Juice Powders Obtained by Using Maltodextrins with Different Dextrose Equivalents
Authors: Arslan Tamer , Durmaz Gökhan 
Published: May 2020

AbstractIn this study, apricot juice powders (AJPs) are obtained via freeze‐drying using different maltodextrins (MDs) as carrier agents. The Hacıhaliloğlu cultivar, which is the most common variety in Turkey, is used as an apricot sample. Three different MDs: low (4–7), medium (13–17), and high (17–20) dextrose equivalence (DE) are used as the carrier agent. The powders obtained are subjected to accelerated oxidation at 55 °C, and the stability of β‐carotene in the AJPs is determined. Some physicochemical properties, such as the glass transition temperature, microstructure, bulk density, color, moisture, solubility, degree of caking, and hygroscopicity, are also determined. The results show that after a 20 day period of oxidation, the remaining β‐carotene in the control sample is 24% of the initial value, whereas for low, medium, and high DE MD samples, it is measured to be 47%, 60%, and 57% of the initial concentration, respectively. There is no significant difference in the content of surface carotenoids between the control and the samples with added MD. In contrast, according to other quality attributes like hygroscopicity, caking, moisture content, and solubility, the best results are obtained from the low DE MD sample.
Effect of Wheat Bran Fiber on the Behaviors of Maize Starch Based Films
Authors: Fu Zong‐Qiang , Wu Hong‐Jian , Wu Min , Huang Zhi‐Gang , Zhang Miao 
Published: May 2020

AbstractThis work presents the potential of wheat bran fiber as filler in starch‐based films. Maize starch incorporating 0–25% w/w wheat bran fiber is used to produce biocomposite films. The properties of starch‐based films are discussed, including morphology, thickness, opacity, water vapor permeability, tensile strength, and elongation at break. As wheat bran fiber is added, the biocomposite films become rough, thick, and opaque. Starch films without the addition of wheat bran fiber presen low water vapor permeability. The elongation at break of films decreases with increase in wheat bran fiber content. The tensile strength increases with increase in wheat bran fiber content from 0 to 10% w/w (about 5.07 MPa) and then decreases as wheat bran fiber content increases. However, the tensile strength of film with loading 20% w/w wheat bran fiber is still higher than that of control starch film, which means that the tensile strength can be improved by incorporating wheat bran fiber.
Internal phosphorus loading due to sediment anoxia in shallow areas: implications for lake aeration treatments
Authors: Tammeorg Olga , Nürnberg Gertrud , Niemistö Juha , Haldna Marina , Horppila Jukka 
Published: May 2020

AbstractShallow lake sediments may be anoxic despite overlying aerated water. In the current study, we aimed to ascertain the contribution of shallow areas to internal phosphorus (P) loading due to sediment anoxia in stratifying lakes. Moreover, we analyzed relationships of the key water quality variables with internal P loading due to sediment anoxia originating solely from stratifying areas (IPobs) and that accounting also for the shallow areas (IPpred) for a set of Finnish lakes, including intentionally aerated and non-aerated lakes. Finally, using a broader set of lakes worldwide, we established a specific combination of lake characteristics that predict sediment P release due to sediment anoxia and linked it to the practices of aeration. Our results showed that shallow lake areas (a difference between IPpredand IPobs) contributed about half of the total P flux due to sediment anoxia. While all of the studied water quality variables related significantly to IPpred, only the concentration of total phosphorus (TP) in the near-bottom water layer related significantly to IPobs. This indicates the key importance of P release of shallow areas for water quality. The concentrations of TP in the surface water layer and chlorophyllawere significantly dependent on IPpredirrespectively of the treatment (aerated lakes or not). P supply from shallow areas may affect aeration effectiveness in stratifying lakes. IPpredwas found to be dependent on the specific combination of lake characteristics (including mean and maximum depth, lake and catchment area, external P loading) PC3, driven mainly by external P loading. Hence, external load reduction should be considered as the first priority in lake water quality management. By linking the dependence of IPpredon PC3 to aeration practices, we determined the conditions that promise increased effectiveness of aeration treatments.
Optimization of Yarrowia lipolytica-based consolidated biocatalyst through synthetic biology approach: transcription units and signal peptides shuffling
Authors: Celińska Ewelina , Borkowska Monika , Korpys-Woźniak Paulina , Kubiak Monika , Nicaud Jean-Marc , Kubiak Piotr , Gorczyca Maria , Białas Wojciech 
Published: May 2020

Abstract
Nowadays considerable effort is being pursued towards development of consolidated microbial biocatalysts that will be able to utilize complex, non-pretreated substrates and produce valuable compounds. In such engineered microbes, synthesis of extracellular hydrolases may be fine-tuned by different approaches, like strength of promoter, type of secretory tag, and gene copy number. In this study, we investigated if organization of a multi-element expression cassette impacts the resultant Yarrowia lipolytica transformants’ phenotype, presuming that different variants of the cassette are composed of the same regulatory elements and encode the same mature proteins. To this end, Y. lipolytica cells were transformed with expression cassettes bearing a pair of genes encoding exactly the same mature amylases, but fused to four different signal peptides (SP), and located interchangeably in either first or second position of a synthetic DNA construction. The resultant strains were tested for growth on raw and pretreated complex substrates of different plant origin for comprehensive examination of the strains’ acquired characteristics. Optimized strain was tested in batch bioreactor cultivations for growth and lipids accumulation. Based on the conducted research, we concluded that the positional order of transcription units (TU) and the type of exploited SP affect final characteristics of the resultant consolidated biocatalyst strains, and thus could be considered as additional factors to be evaluated upon consolidated biocatalysts optimization.

Key Points
• Y. lipolytica growing on raw starch was constructed and tested on different substrates.
• Impact of expression cassette design and SP on biocatalysts’ phenotype was evidenced.
• Consolidated biocatalyst process for lipids production from starch was conducted.
Treatment expectations and patient-reported outcomes of nusinersen therapy in adult spinal muscular atrophy
Authors: Osmanovic Alma , Ranxha Gresa , Kumpe Mareike , Müschen Lars , Binz Camilla , Wiehler Flavia , Paracka Lejla , Körner Sonja , Kollewe Katja , Petri Susanne , Schreiber-Katz Olivia 
Published: May 2020

Abstract
Background
The antisense-oligonucleotide (ASO) nusinersen has recently been approved as the first genetically modifying therapy for 5q-associated spinal muscular atrophy (SMA) based on randomized sham-controlled trials in infants and children. The efficacy in adults with long disease history and advanced disease status is still widely unknown; the same applies to specific expectations of adult SMA patients and to what extent they are met and may impact outcome measures.

Methods
In a longitudinal monocentric study in adult patients with SMA types 2–4, the Stanford Expectations of Treatment Scale (SETS) was assessed prior to and during nusinersen treatment. Treatment outcome was evaluated using patient-reported outcomes (PROs) as well as objectively quantifiable motor outcome measures.

Results
Adult SMA patients had high expectations of nusinersen treatment effectiveness regarding increase in muscle strength and disease stabilization. Via PROs, 75% stated improvements in muscle strength, endurance and independence under therapy which was in line with slight improvements in quantifiable motor scores during a ten month observation period. In contrast, patients only expressed few negative expectations which further decreased during therapy.

Conclusions
This study showed mainly positive treatment expectations and PROs in patients undergoing nusinersen treatment along with measurable functional improvement in adult SMA patients. Moreover, treatment expectations did not significantly influence outcome measures.
Assessment of post-failure evolution of a large earthflow through field monitoring and numerical modelling
Authors: Lollino P. , Giordan D. , Allasia P. , Fazio N. L. , Perrotti M. , Cafaro F. 
Published: May 2020

AbstractThe analysis of the residual hazard existing after the emergency phases generated by the activation or reactivation of landslides is rarely taken into account in a proper manner. However, the assessment of landslide post-failure evolution should represent a key factor to control potential landslide reactivations and prevent new landslide-induced damages. This paper presents the results of a long-term field monitoring activity performed in the years after the emergency phase of the Montaguto (Italy) earthflow reactivation occurred in 2010 as well as the results of 2-D and 3-D numerical analyses aimed at interpreting the post-emergency landslide behaviour. The results of the numerical simulations, which agree well with the in situ monitoring data, allow to define a conceptual model of the earthflow behaviour that is related to the pore water pressure variations resulting from the drained or undrained processes occurring in the landslide body. The study proposed confirms a general reduction of the landslide activity, as well as allows to detect the factors that control the residual activity existing in a specific area of the landslide and to infer possible critical scenarios for landslide reactivations.
Long-term changes in spatial overlap between interacting cod and flounder in the Baltic Sea
Authors: Orio Alessandro , Bergström Ulf , Florin Ann-Britt , Šics Ivo , Casini Michele 
Published: May 2020

AbstractThe strength of interspecific competition and predator–prey interactions depends on the area of co-occurrence of the interacting species. Therefore, it is necessary to quantify the changes in the spatial overlap of trophically connected species to understand the outcomes of species interactions. In the Baltic Sea, the interplay between cod and flounder has previously been neglected. In this study, we use four decades of data on cod and flounder distributions covering the southern and central Baltic Sea to: (1) model and map the changes in the distributions of the two species using generalized additive models; (2) quantify the temporal changes in the potential competitive and predator–prey interactions between them using spatial overlap indices; (3) relate these changes in overlap to the known dynamics of the different cod and flounder populations in the Baltic Sea. Competition overlap has continuously increased for cod, from the beginning of the time-series. This is a possible cause of the observed decline in feeding levels and body condition of small and intermediate sized cod. Flounder overlap with large cod instead has decreased substantially, suggesting a predation release of flounder, potentially triggering its increase in abundance and distribution range observed in the last decades.
Excimer laser treatment combined with riboflavin ultraviolet-A (UVA) collagen crosslinking (CXL) in keratoconus: a literature review
Authors: Ezzeldin M. , Filev F. , Steinberg J. , Frings A. 
Published: May 2020

Abstract
Purpose
To review the clinical outcome of keratoconus patients after excimer laser treatment with combined riboflavin UV-A collagen crosslinking (CXL) treatment was reviewed in light of the UDVA, CDVA and HOA.

Methods
Following a PubMed-based literature review of studies on excimer laser treatment with combined riboflavin UV-A CXL published between 2009 and 2018, peer-reviewed English-written studies were evaluated using the GRADE approach (www.gradeworkinggroup.org). The current review focused on the change in the (un)corrected distance visual acuity (UDVA; CDVA) and higher-order aberrations (HOA) as well as the prevalence of postoperative complications.

Results
Five studies with a total of 573 eyes were included, thereby reporting on 479 eyes were treated with the aforementioned combination therapy. The control group consisted of 94 eyes in total. Changes between pre- and postoperative CDVA and/or UDVA were statistically significant in all five studies after at least a 24-month follow-up period for the combined excimer laser-assisted CXL treatment in comparison with the CXL-only treatment option. Three studies described statistically significant reduction in the number of total HOA, in particular, those related to coma and spherical aberration. Corneal haze was reported in four studies, but the condition was successfully treated in all cases.

Conclusion
Current studies suggest that CDVA, UDVA and HOA in low-to-moderate keratoconic patients improved in a combined treatment without sacrificing biomechanical stability of the cornea. However, long-term results are needed, as the studies in our review have a follow-up period of 68 months or less.
Additive manufacturing of monolithic supercapacitors with biopolymer separator
Authors: Arvani Maedeh , Keskinen Jari , Railanmaa Anna , Siljander Sanna , Björkqvist Tomas , Tuukkanen Sampo , Lupo Donald 
Published: May 2020

AbstractIn this paper, additive layer-by-layer fabrication of a fully screen printed monolithic supercapacitor exhibiting performance comparable with supercapacitors prepared using lamination is reported. A novel separator material improves the performance of the monolithic supercapacitor, is easily applicable using scalable processes such as screen and stencil printing, and is based on sustainable biomaterials. The additive monolithic manufacturing offers advantages for system integration and avoids the need of an additional alignment step as needed in the fabrication of laminated supercapacitors. Previously, the monolithically fabricated supercapacitors showed higher equivalent series resistance (ESR) and leakage current than the laminated ones. By using microfibrillated cellulose (MFC) and chitosan as separator materials ESR and leakage current were decreased. These disposable and non-toxic aqueous electrolyte supercapacitors are optimized for autonomous sensor systems, for example in Internet-of-Things (IoT) applications, with capacitance of 200–300 mF and ESR of about 10 Ω. The new composite separator material consisting of MFC and chitosan has good adhesion on the electrodes and the substrate, is easy to apply using printing and coating processes, and does not diffuse into the porous electrode.
Graphic Abstract