bluuebunny/crossref_metadata_2025_split huggingface dataset:
An Amish founder population reveals rare-population genetic determinants of the human lipidome
Authors: Montasser May E. , Aslibekyan Stella , Srinivasasainagendra Vinodh , Tiwari Hemant K. , Patki Amit , Bagheri Minoo , Kind Tobias , Barupal Dinesh Kumar , Fan Sili , Perry James , Ryan Kathleen A. , Shuldiner Alan R. , Arnett Donna K. , Beitelshees Amber L. , Irvin Marguerite Ryan , O’Connell Jeffrey R. 
Published: April 2022

AbstractIdentifying the genetic determinants of inter-individual variation in lipid species (lipidome) may provide deeper understanding and additional insight into the mechanistic effect of complex lipidomic pathways in CVD risk and progression beyond simple traditional lipids. Previous studies have been largely population based and thus only powered to discover associations with common genetic variants. Founder populations represent a powerful resource to accelerate discovery of previously unknown biology associated with rare population alleles that have risen to higher frequency due to genetic drift. We performed a genome-wide association scan of 355 lipid species in 650 individuals from the Amish founder population including 127 lipid species not previously tested. To the best of our knowledge, we report for the first time the lipid species associated with two rare-population but Amish-enriched lipid variants: APOB_rs5742904 and APOC3_rs76353203. We also identified novel associations for 3 rare-population Amish-enriched loci with several sphingolipids and with proposed potential functional/causal variant in each locus including GLTPD2_rs536055318, CERS5_rs771033566, and AKNA_rs531892793. We replicated 7 previously known common loci including novel associations with two sterols: androstenediol with UGT locus and estriol with SLC22A8/A24 locus. Our results show the double power of founder populations and detailed lipidome to discover novel trait-associated variants.
A severe landslide event in the Alpine foreland under possible future climate and land-use changes
Authors: Maraun Douglas , Knevels Raphael , Mishra Aditya N. , Truhetz Heimo , Bevacqua Emanuele , Proske Herwig , Zappa Giuseppe , Brenning Alexander , Petschko Helene , Schaffer Armin , Leopold Philip , Puxley Bryony L. 
Published: April 2022

AbstractLandslides are a major natural hazard, but uncertainties about their occurrence in a warmer climate are substantial. The relative role of rainfall, soil moisture, and land-use changes and the importance of climate change mitigation are not well understood. Here, we develop an event storyline approach to address these issues, considering an observed event in Austria with some 3000 landslides as a showcase. We simulate the event using a convection permitting regional climate model and a statistical landslide model at present and a range of plausible future climate and land use conditions. Depending on the changes of rainfall and soil moisture, the area affected during a 2009-type event could grow by 45% at 4 K global warming, although a slight reduction is also possible. Such growth could be reduced to less than 10% by limiting global warming according to the Paris agreement. Anticipated land-use changes towards a climate-resilient forest would fully compensate for such a limited increase in hazard.
Deep learning-based imaging in radio interferometry
Authors: Schmidt K. , Geyer F. , Fröse S. , Blomenkamp P.-S. , Brüggen M. , de Gasperin F. , Elsässer D. , Rhode W. 
Published: April 2022

Context.The sparse layouts of radio interferometers result in an incomplete sampling of the sky in Fourier space which leads to artifacts in the reconstructed images. Cleaning these systematic effects is essential for the scientific use of radiointerferometric images.Aims.Established reconstruction methods are often time-consuming, require expert knowledge, and suffer from a lack of reproducibility. We have developed a prototype deep learning-based method that generates reproducible images in an expedient fashion.Methods.To this end, we take advantage of the efficiency of convolutional neural networks to reconstruct image data from incomplete information in Fourier space. The neural network architecture is inspired by super-resolution models that utilize residual blocks. Using simulated data of radio galaxies that are composed of Gaussian components, we trained deep learning models whose reconstruction capability is quantified using various measures.Results.The reconstruction performance is evaluated on clean and noisy input data by comparing the resulting predictions with the true source images. We find that source angles and sizes are well reproduced, while the recovered fluxes show substantial scatter, albeit not worse than existing methods without fine-tuning. Finally, we propose more advanced approaches using deep learning that include uncertainty estimates and a concept to analyze larger images.
Editorial
Authors: Haas Johannes-Peter 
Published: April 2022

Liebe Leser*innen der Aktuellen Rheumatologie,die Aufgabe, ein Themenheft zur Kinderrheumatologie zu gestalten, haben die
Autor*innen und ich selbst als Gasteditor sehr gerne angenommen. Wir haben
uns dabei ganz bewusst neben hochaktuellen Themen für Bereiche der
Kinderrheumatologie entschieden, die manchmal etwas zu wenig Beachtung finden.
Das Pädiatrische Inflammatorische Multisystem Syndrom (PIMS)
in der COVID-19 Pandemie
Authors: Brück Normi , Schütz Catharina , Kallinich Tilmann 
Published: April 2022

ZusammenfassungNach einer meist mild verlaufenden SARS-CoV-2-Infektion kommt es bei einem
kleinen Teil der Kinder nach einem Zeitraum von ca. 6–8 Wochen zu einer
ausgeprägten multisystemischen Hyperinflammation (Pediatriac
multisystemic inflammatory syndrome (PIMS)). Klinisch präsentieren sich
diese Patienten mit Zeichen eines Kawasaki-Syndroms bzw. eines toxischen
Schocksyndroms. Gerade die kardiale Manifestation mit einer deutlichen
Einschränkung der Herzfunktion erfordert in vielen Fällen eine
intensivmedizinische Behandlung.Die Pathophysiologie ist trotz des beeindruckenden Erkenntnisgewinns der letzten
1 ½ Jahre noch unklar. Möglicherweise spielen
Superantigene eine wesentliche Rolle, die T-Zellen an einer bestimmten
β-Kette des T-Zellrezeptors polyklonal stimulieren.Neben den z.T. intensivmedizinischen supportiven Maßnahmen werden zur
Kontrolle der Inflammation intravenöse Immunglobuline, Steroide und
Biologika eingesetzt.
Physiotherapie und Sport bei Kinderrheuma – Shake your
bones
Authors: Gizik Josephine , Meister Sophia , Hartmann Matthias , Sahm Daniel , Georgi Mathias , Baumeister Nadja , Kühne Mareike , Haas Johannes-Peter , Schwirtz Ansgar 
Published: April 2022

ZusammenfassungIm Rahmen kindlicher rheumatischer Erkrankungen haben die zumeist schmerzhaften
Entzündungsvorgänge am muskulo-skelettalen System
(z. B.: Gelenke, Muskeln, Sehnen, Gefäße) Auswirkungen
auf die tägliche Mobilität der Betroffenen. Immobilität,
körperliche und sportliche Inaktivität sind oft die Folge. Die
geltenden Richtlinien der Nationalen Empfehlungen für Bewegung und
Bewegungsförderung werden daher oftmals nicht erreicht.
Bewegungsreduzierte oder -inaktive Patienten können jedoch durch
verschiedene Maßnahmen in ihrem Bewegungsverhalten gefördert
werden. Die Physiotherapie bietet eine erste Möglichkeit in
geschütztem Rahmen und unter fachlicher Aufsicht körperlich und
sportlich aktiv zu sein. Neben der Wiederherstellung und Verbesserung des
physiologischen Bewegungsausmaßes liegen die Erhaltung der
Selbstständigkeit und Lebensqualität im Vordergrund der
physiotherapeutischen Behandlung. Dazu zählen Aktivierung, Anbahnung von
physiologischen Bewegungsabläufen, Korrektur von Gelenkachsen und das
Vermitteln von Körperwahrnehmung bei körperlicher
Aktivität. Medizinisches Fachwissen und Verständnis sowie Wissen
über die Anforderungen verschiedener Sportartenprofile
ermöglicht gezielte Hilfestellungen. Durch kontinuierliche, engmaschige
Begleitung und langsame Steigerung von Intensität und Umfang in der
Physiotherapie können Ängste und Bedenken bezüglich dem
Wiedereinstieg bzw. Einstieg in sportliche Betätigung abgebaut werden.
Der jeweilige Gesundheitszustand und die Situation der
Entzündungsaktivität sind maßgebend für die
Therapieinterventionen. Sport gilt heute in der Physiotherapie als
Therapieelement und hilft Beschwerden zu lindern, verbessert körperliche
Defizite und vermittelt dabei Freude an der Bewegung. Für
Alltagsaktivitäten und den Freizeitsport kann eine individuelle
Sportberatung basierend auf dem bestehenden Erkrankungsstatus, dem funktionellen
und sportmotorischen Leistungsniveau sowie den eigenen Interessen wirkungsvoll
zu einem aktiven Lebensstil beitragen. Eine weitere Möglichkeit der
angeleiteten Bewegungsförderung stellt der Schulsport dar. Individuelle,
differenzierte Schulsportteilnahmebescheinigungen verbessern die Inklusion. Ein
auf den Erkrankungsstatus angepasstes und vorgegebenes Trainingsprogramm kann
mithilfe konkreter Vorgaben bei der Umsetzung der sportlichen Ziele
unterstützen. In Zukunft soll ein digital gestütztes
professionelles Monitoring die Bewegungsempfehlungen für zuhause noch
weiter verbessern und helfen den Mangel an flächendeckenden
Beratungsstellen für Erkrankte mit kindlichem Rheuma zu verringern.
Cisplatin – A more Efficient Drug in Combination with Radionuclides?
Authors: Reissig Falco , Runge Roswitha , Naumann Anne , Kotzerke Jörg 
Published: April 2022

Abstract
Aim The combination of conventional chemotherapeutic drugs with radionuclides or external radiation is discussed for a long period of time. The major advantage of a successful combination therapy is the reduction of severe side effects by decreasing the needed dose and simultaneously increasing therapeutic efficiency.
Methods In this study, pUC19 plasmid DNA was incubated with the cytostatic drug cisplatin and additionally irradiated with 99mTc, 188Re and 223Ra. To verify the contribution of possibly excited platinum atoms to the emission of Auger electrons we determined DNA damages, such as single- and double strand breaks.
Results The threshold concentration value of cisplatin, which was tolerated by pUC19 plasmid DNA was determined to be 18–24 nM. Nevertheless, even at higher dose values (>100 Gy) and simultaneous incubation of cisplatin to 200 ng plasmid DNA, no significant increase in the number of induced single- and double-strand breaks was obtained, compared to the damage solely caused by the radionuclides.
Conclusion We thereby conclude that there is no direct dependence of the mechanism of strand break induction to the absence or presence of platinum atoms attached to the DNA. Reported increasing DNA damages in therapy approaches on a cellular level strongly depend on the study design and are mainly influenced by repair mechanisms in living cells. Nevertheless, the use of radioactive cisplatin, containing the Auger electron emitter 191Pt, 193mPt or 195mPt, is a bright prospect for future therapy by killing tumor cells combining two operating principles: a cytostatic drug and a radiopharmaceutical at the same time.
Inkorporationsüberwachung des Personals einer nuklearmedizinischen Therapiestation mit Einsatz von I-131 und Lu-177
Authors: Wanke Carsten , Szemerski Bastian , Geworski Lilli 
Published: April 2022

Zusammenfassung
Ziele Neben der etablierten Radiojodtherapie werden in Deutschland zunehmend auch Therapien mit Lutetium-177 stationär durchgeführt. All diese Therapien sind bei der Abschätzung der potenziellen Inkorporationsdosis und der Inkorporationsüberwachung des Personals zu berücksichtigen. Dieser Beitrag zeigt die Erfahrungen und Ergebnisse der Inkorporationsüberwachung auf einer nuklearmedizinischen Therapiestation eines Universitätsklinikums.
Methoden Personal einer nuklearmedizinischen Therapiestation wurde regelmäßig mittels eines Ganzkörperzählers auf Inkorporation überwacht. Über einen Zeitraum von 12 Monaten erfolgten insgesamt 234 Messungen. Unter Berücksichtigung der im jeweiligen Zeitraum gehandhabten oder applizierten Aktivitäten wurden Inkorporationsfaktoren ermittelt.
Ergebnisse In ca. 74 % der Messungen wurde keine Inkorporation festgestellt. In den übrigen Messungen wurde Aktivität erkannt. Bei Annahme von Inkorporation würden sich hieraus maximale Expositionen von weniger als 0,15 mSv effektiver Dosis pro Messung ergeben. Die in dieser Arbeit ermittelten Inkorporationsfaktoren lagen für alle Personengruppen bis auf das Personal der radiochemischen Qualitätskontrolle in einer Größenordnung von 10–7. Für die letztgenannte Personengruppe kann nur eine Obergrenze des Inkorporationsfaktors von 10–5 angegeben werden.
Schlussfolgerung Das Inkorporationsrisiko für Personal einer nuklearmedizinischen Therapiestation kann als gering angesehen werden. Ein Inkorporationsfaktor von 10–7 ist für ärztliches Personal, Pflegepersonal, Reinigungspersonal und das Personal, das radiochemische Synthesen durchführt, angemessen.
Successful Rituximab Therapy for Pediatric Antiphospholipid-Related Chorea: A Case Report and Review of the Literature
Authors: D'hont Alexia , De Wachter Matthias , Driesen Yentl , Sabato Vito , Joos Rik , Ceulemans Berten 
Published: April 2022

AbstractChorea is considered a nonthrombotic manifestation of the antiphospholipid syndrome, often preceding thrombotic events in children. It can be present in up to 5% of pediatric patients with antiphospholipid syndrome. Immunomodulatory treatment regimens seem to be successful in these patients, emphasizing the underlying immunological etiology. Corticosteroids are considered first-line treatment, but chorea tends to be therapy-resistant and guidelines about second-line therapy in children are solely based on small case studies. We present a case of a therapy-resistant chorea, successfully treated with rituximab. Furthermore, we give an overview of the existing literature concerning rituximab for the treatment of chorea in children. Our findings indicate that rituximab can be considered a safe option to treat antiphospholipid syndrome-related chorea in children.
Stereocontrolled Synthesis of (±)-Grandisol
Authors: Bartlett William R. , Read de Alaniz Javier , Carlson Janet L. , Dillon Maria P. , Edstrom Eric , Fischer Derek A. , Goldblum Adam A , Luedtke Gregory R. , Paneitz Gregory W. , Ryter Kendal , Schulz Mark , Shepard Donnie A. , Switzer Christopher 
Published: April 2022

AbstractA synthetic approach to grandisol is described. The route to the cyclobutane core relies on an efficient intramolecular [2+2] cyclo­addition that establishes the required cis-ring fusion at the adjacent side chains of the cyclobutane ring. Using a new two-step lithium/halide homologation procedure, norgrandisol was efficiently converted into grandisol. This new approach enables the synthesis of grandisol in five steps from commercially available starting material in 22% overall yield.
Rapid and Facile Synthesis of Isomaleimides: Dehydration of Maleamic Acids using Methanesulfonyl Chloride
Authors: Croatt Mitchell P. , Alam Khyarul , McFee Elvis C. 
Published: April 2022

AbstractThe dehydration of maleamic acids using methanesulfonyl chloride as a dehydrating agent to selectively and rapidly (<15 min) generate isomaleimides is reported. A variety of maleamic acid derivatives produce the corresponding isomaleimides in good to excellent yields. Adaptation of this protocol under flow synthesis allows for similar efficiency and decreased reaction times (13 seconds residence time). It was also possible to convert maleic anhydride into the desired isomaleimide in a two-step, one-flask operation.
Preparation of Ring-Methoxylated Arylnitromethanes by the Victor Meyer Reaction
Authors: Kislyi Victor P. , Maksimenko Anna S. , Buikin Petr A. , Daeva Elena D. , Semenov Victor V. 
Published: April 2022

AbstractEasily accessible and stable ring-methoxylated benzyl chlorides react with AgNO2 to give mixtures of the corresponding arylnitromethanes and nitrite esters. A modified approach for the isolation of arylnitromethanes is described, which represents a valuable improvement of the established Victor Meyer reaction. The isolation technique, which involves reaction of the nitrite ester with urea in methanol, allows the desired arylnitromethanes to be isolated, without loss, in 29–75% yields, and generates the corresponding recyclable benzyl alcohols. Unexpectedly, ring-methoxylated benzyl iodides cannot be used because they are not sufficiently stable and produce tars under the developed reaction conditions.
Toward a Learning Health Care System: A Systematic Review and Evidence-Based Conceptual Framework for Implementation of Clinical Analytics in a Digital Hospital
Authors: Lim Han Chang , Austin Jodie A. , van der Vegt Anton H. , Rahimi Amir Kamel , Canfell Oliver J. , Mifsud Jayden , Pole Jason D. , Barras Michael A. , Hodgson Tobias , Shrapnel Sally , Sullivan Clair M. 
Published: April 2022

AbstractObjective A learning health care system (LHS) uses routinely collected data to continuously monitor and improve health care outcomes. Little is reported on the challenges and methods used to implement the analytics underpinning an LHS. Our aim was to systematically review the literature for reports of real-time clinical analytics implementation in digital hospitals and to use these findings to synthesize a conceptual framework for LHS implementation.Methods Embase, PubMed, and Web of Science databases were searched for clinical analytics derived from electronic health records in adult inpatient and emergency department settings between 2015 and 2021. Evidence was coded from the final study selection that related to (1) dashboard implementation challenges, (2) methods to overcome implementation challenges, and (3) dashboard assessment and impact. The evidences obtained, together with evidence extracted from relevant prior reviews, were mapped to an existing digital health transformation model to derive a conceptual framework for LHS analytics implementation.Results A total of 238 candidate articles were reviewed and 14 met inclusion criteria. From the selected studies, we extracted 37 implementation challenges and 64 methods employed to overcome such challenges. We identified common approaches for evaluating the implementation of clinical dashboards. Six studies assessed clinical process outcomes and only four studies evaluated patient health outcomes. A conceptual framework for implementing the analytics of an LHS was developed.Conclusion Health care organizations face diverse challenges when trying to implement real-time data analytics. These challenges have shifted over the past decade. While prior reviews identified fundamental information problems, such as data size and complexity, our review uncovered more postpilot challenges, such as supporting diverse users, workflows, and user-interface screens. Our review identified practical methods to overcome these challenges which have been incorporated into a conceptual framework. It is hoped this framework will support health care organizations deploying near-real-time clinical dashboards and progress toward an LHS.
Single-Stage Posterior Transpedicular Corpectomy and 360-Degree Reconstruction for Thoracic and Lumbar Burst Fractures: Technical Nuances and Outcomes
Authors: Anania Carla Daniela , Bono Beatrice Claudia , Tropeano Mariapia , Fornari Maurizio , Servadei Franco , Costa Francesco 
Published: April 2022

Abstract
Background We evaluate the feasibility of a single-stage posterior corpectomy and circumferential arthrodesis with the aid of spinal navigation for the treatment of traumatic thoracolumbar burst fractures.
Methods This was a single-center, retrospective study. Demographics, clinical, and radiologic data of 19 patients who underwent surgery at our institution for thoracolumbar burst fractures between 2016 and 2019 were collected. All patients enrolled in the present study underwent surgery by means of posterior fixation and transpedicular corpectomy with the aid of an intraoperative image-guided neuronavigation system.
Results Postoperative correction of the vertebral height ratio was achieved in all cases, with an average increase of 23.6% (p = 0.0005). No statistical differences (p = 0.9) were found comparing 1- and 3-month postoperative CT scans, in relation to vertebral height ratio. A statistically significant difference was found between the pre- and postoperative kyphotic angles for the thoracolumbar and lumbar segments (p = 0.0018 and 0.005, respectively), but no difference was found between kyphotic angles at the 3-month follow-up. A unilateral approach was performed on 15 patients (79%), while 4 cases (21%) required a bilateral laminectomy. We did not observe any significant intraoperative complication.
Conclusion Single-stage posterior corpectomy and fixation is a safe and effective approach for thoracic and lumbar burst fractures. It provides excellent 360-degree reconstruction in a single surgical stage with satisfactory results in terms of kyphosis reduction, biomechanical stability, and reduced invasiveness. Spinal navigation represents a fundamental tool to overcome some anatomical limits of the presented technique.
A Re-evaluation of Tinnitus Reliability Testing
Authors: Jacobson Gary P. , Henderson Jennifer A. , McCaslin Devin L. 
Published: April 2022

AbstractThe purposes of these investigations were to (1) evaluate tinnitus loudness measures of unskilled normal listeners asked to imagine that they are experiencing a constant monaural tonal tinnitus and (2) compare the performance of these listeners to that of a sample of patients with tinnitus. Subgroups of 24 patients participated in two investigations. Results suggest that (1) normal subjects asked to imagine a high-pitched, tonal tinnitus show significantly greater tinnitus loudness matching levels (a) when they do not have an external reference, (b) after a 1-week interval, and (c) for low-frequency matching tones; (2) patients with high-pitched tinnitus did not demonstrate statistically significant differences in tinnitus loudness judgments within or between sessions or frequencies; (3) tinnitus patients do not differ significantly from normals feigning tinnitus in the variability of tinnitus loudness matching levels within a single session (two measures) or after a 1-week interval (one measure); and (4) normals feigning tinnitus tended to choose significantly greater loudness matching levels than did tinnitus subjects.
Abbreviations: SL = sensation level, THI= Tinnitus Handicap Inventory
Effect of Stimulation Rate on Cochlear Implant Recipients' Thresholds and Maximum Acceptable Loudness Levels
Authors: Skinner Margaret W. , Holden Laura K. , Holden Timothy A. , Demorest Marilyn E. 
Published: April 2022

AbstractClinically, speech processor programs are created using electrical thresholds and maximum acceptable loudness levels (MALs) at several different stimulation rates to determine what rate will provide cochlear implant recipients with the best speech recognition when using fast-rate speech coding strategies. This study was designed to determine the difference in thresholds and MALs (expressed in the clinical unit, Current Level [CL]) for pairs of six rates spanning those available with the Nucleus 24 device (i.e., 250 to 2400 pps/ch) using monopolar, 25 μsec/phase stimulation. Test-retest measures of threshold and MAL for each rate were obtained from seven adult Nucleus 24 recipients on each of 11 electrodes. The difference in threshold and in MAL between pairs of rates was dependent on the absolute CL. Below approximately 190 CL, thresholds and MALs decreased with increasing rate; above 210 CL, there was little change in threshold or MAL with increasing rate. Based on these findings, an approach to estimating threshold and MAL from one rate to another is suggested, pending further research.
Abbreviations: ACE = advanced combination encoder, CIS = continuous interleaved sampling, CT = computed tomography, CL = current level, FDA = U.S. Food and Drug Administration, MALs = maximum acceptable loudness levels, NRT = neural response telemetry, pps/ch = pulses per second per channel, SPEAK = spectral peak speech coding strategy, WinDPS = Windows programming and diagnostic system