bluuebunny/crossref_metadata_2025_split huggingface dataset:
The first high-density genetic map of common cockle (Cerastoderma edule) reveals a major QTL controlling shell color variation
Authors: Hermida Miguel , Robledo Diego , Díaz Seila , Costas Damián , Bruzos Alicia L. , Blanco Andrés , Pardo Belén G. , Martínez Paulino 
Published: October 2022

AbstractShell color shows broad variation within mollusc species and despite information on the genetic pathways involved in shell construction and color has recently increased, more studies are needed to understand its genetic architecture. The common cockle (Cerastoderma edule) is a valuable species from ecological and commercial perspectives which shows important variation in shell color across Northeast Atlantic. In this study, we constructed a high-density genetic map, as a tool for screening common cockle genome, which was applied to ascertain the genetic basis of color variation in the species. The consensus genetic map comprised 19 linkage groups (LGs) in accordance with the cockle karyotype (2n = 38) and spanned 1073 cM, including 730 markers per LG and an inter-marker distance of 0.13 cM. Five full-sib families showing segregation for several color-associated traits were used for a genome-wide association study and a major QTL on chromosome 13 associated to different color-traits was detected. Mining on this genomic region revealed several candidate genes related to shell construction and color. A genomic region previously reported associated with divergent selection in cockle distribution overlapped with this QTL suggesting its putative role on adaptation.
Analysis of the robustness and dynamics of spin-locking preparations for the detection of oscillatory magnetic fields
Authors: Capiglioni Milena , Turco Federico , Wiest Roland , Kiefer Claus 
Published: October 2022

AbstractExtracting quantitative information of neuronal signals by non-invasive imaging is an outstanding challenge for understanding brain function and pathology. However, state-of-the-art techniques offer low sensitivity to deep electrical sources. Stimulus induced rotary saturation is a recently proposed magnetic resonance imaging sequence that detects oscillatory magnetic fields using a spin-lock preparation. Phantom experiments and simulations proved its efficiency and sensitivity, but the susceptibility of the method to field inhomogeneities is still not well understood. In this study, we simulated and analyzed the dynamic of three spin-lock preparations and their response to field inhomogeneities in the presence of a resonant oscillating field. We show that the composite spin-lock preparation is more robust against field variations within the double resonance effect. In addition, we tested the capability of the chosen composite spin-lock preparation to recover information about the spectral components of a composite signal. This study sets the bases to move one step further towards the clinical application of MR-based neuronal current imaging.
Experimentally revealing anomalously large dipoles in the dielectric of a quantum circuit
Authors: Yu Liuqi , Matityahu Shlomi , Rosen Yaniv J. , Hung Chih-Chiao , Maksymov Andrii , Burin Alexander L. , Schechter Moshe , Osborn Kevin D. 
Published: October 2022

AbstractQuantum two-level systems (TLSs) intrinsic to glasses induce decoherence in many modern quantum devices, such as superconducting qubits. Although the low-temperature physics of these TLSs is usually well-explained by a phenomenological standard tunneling model of independent TLSs, the nature of these TLSs, as well as their behavior out of equilibrium and at high energies above 1 K, remain inconclusive. Here we measure the non-equilibrium dielectric loss of TLSs in amorphous silicon using a superconducting resonator, where energies of TLSs are varied in time using a swept electric field. Our results show the existence of two distinct ensembles of TLSs, interacting weakly and strongly with phonons, where the latter also possesses anomalously large electric dipole moment. These results may shed new light on the low temperature characteristics of amorphous solids, and hold implications to experiments and applications in quantum devices using time-varying electric fields.
Usefulness of modified S-line for upper instrumented vertebra selection in adolescent idiopathic scoliosis Lenke type 2 curves
Authors: Mimura Tetsuhiko , Ikegami Shota , Banno Tomohiro , Seki Shoji , Ohba Tetsuro , Oba Hiroki , Kuraishi Shugo , Uehara Masashi , Munakata Ryo , Takizawa Takashi , Hatakenaka Terue , Kamanaka Takayuki , Miyaoka Yoshinari , Kurogochi Daisuke , Fukuzawa Takuma , Haro Hirotaka , Kawaguchi Yoshiharu , Matsuyama Yukihiro , Koseki Michihiko , Takahashi Jun 
Published: October 2022

AbstractNo validated systems exist for selecting the upper instrumented vertebra (UIV) for optimal postoperative shoulder balance in Lenke type 2 adolescent idiopathic scoliosis (AIS). This study evaluated a new method for shoulder balance prediction using the modified Shinshu line (MSL) for UIV selection in AIS Lenke type 2 curves. Fifty-five consecutive AIS patients receiving posterior spinal fusion (PSF) for a Lenke type 2 AIS curve were retrospectively analyzed according to several UIV determination models. Shoulder imbalance was judged as absolute radiographic shoulder height ≥ 10 mm at the 2-year observational endpoint. The MSL was the line between the center of the spinous process of C7 and that of the lowest instrumented vertebra. The vertebral body first touched proximally by the MSL was defined as the MSL vertebra (MSLV) and recommended as the UIV. The group with the UIV matching the MSLV had a significantly lower prevalence of shoulder imbalance of 23% (odds ratio 4.08, 95% CI 1.22–13.7, P = 0.02). Setting the MSLV as the UIV in PSF for AIS Lenke type 2 may reduce the prevalence of postoperative shoulder imbalance.
Contrast enhancement by location and volume is associated with long-term outcome after thrombectomy in acute ischemic stroke
Authors: Chang Guo-Can , Ma Dai-Chao , Li Wei , Qiu Jin , Sun Xian-Hui , Zhao Yong-Gang , Liu Xin , Zhao Zi-Ai , Liu Liang , Nguyen Thanh N. , Chen Hui-Sheng 
Published: October 2022

AbstractContrast enhancement (CE) on brain non-contrast computed tomography (NCCT) is common after endovascular thrombectomy (EVT) in patients with acute ischemic stroke (AIS), but its association with clinical outcomes is not well established. The current study aimed to investigate this relationship. We retrospectively reviewed consecutive patients with acute ischemic stroke who had hyperdensity on NCCT immediately after EVT for anterior circulation large vessel occlusion (LVO) from January 2016 to December 2019. We used ASPECTS combined with volume measurement by 3D reconstruction to estimate the extent and location of CE. Multivariable regression analysis was conducted to explore the risk factors associated with clinical outcome. In this study, 113 of 158 (71.52%) anterior circulation AIS-LVO patients had hyperdensity on brain NCCT. After strict inclusion and exclusion criteria, a total of 64 patients were enrolled in the final analysis. In logistic regression analysis, CE-ASPECTS, CE volume, CE at the caudate nucleus, M4 and M6 region were associated with 3-month poor functional outcome after adjusting for confounding factors. The conventional variable model was used for reference, including age, initial NIHSS, the procedure time, stent retriever passes, recanalization status and baseline ASPECTS, with AUC of 0.73. When combined with the above-named variables (conventional variables + CE-ASPECTS + CE volume + CE at caudate nucleus + CE at M4 region + CE at M6 region), the predictive power was significantly improved, with AUC of 0.87 (95% CI 0.78–0.95). The spatial location and volume of CE on NCCT obtained immediately after EVT were independent and strong predictors for poor outcome at 3-months in patients with AIS after excluding definite hemorrhage by 24-h follow up CT.
Identification and biochemical characterization of a novel N-acetylglucosamine kinase in Saccharomyces cerevisiae
Authors: Umekawa Midori , Nishikawa Ayano , Isono Naoto , Karita Shuichi 
Published: October 2022

AbstractN-acetylglucosamine (GlcNAc) is a key component of glycans such as glycoprotein and the cell wall. GlcNAc kinase is an enzyme that transfers a phosphate onto GlcNAc to generate GlcNAc-6-phosphate, which can be a precursor for glycan synthesis. GlcNAc kinases have been found in a broad range of organisms, including pathogenic yeast, human and bacteria. However, this enzyme has never been discovered in Saccharomyces cerevisiae, a eukaryotic model. In this study, the first GlcNAc kinase from S. cerevisiae was identified and named Ngk1. The Km values of Ngk1 for GlcNAc and glucose were 0.11 mM and 71 mM, respectively, suggesting that Ngk1 possesses a high affinity for GlcNAc, unlike hexokinases. Ngk1 showed the GlcNAc phosphorylation activity with various nucleoside triphosphates, namely ATP, CTP, GTP, ITP, and UTP, as phosphoryl donors. Ngk1 is phylogenetically distant from known enzymes, as the amino acid sequence identity with others is only about 20% or less. The physiological role of Ngk1 in S. cerevisiae is also discussed.
Sporttherapeutische Behandlungsmethoden nach einer
Gehirnerschütterung
Authors: Skibba Michael , Reinhardt Jessica , Helmich Ingo 
Published: October 2022

Zusammenfassung
Einleitung Die Gehirnerschütterung (GE) ist eine häufig,
insbesondere im Sport, auftretende Verletzung und kann zu langfristigen
gesundheitlichen Einschränkungen führen. Studien deuten darauf
hin, dass eine aktive statt passive Rehabilitation nach einer GE den
Genesungsprozess unterstützen und längerfristige Auswirkungen
reduzieren kann. Das Ziel dieser Arbeit ist es daher, mittels eines
systematischen Reviews einen Überblick über spezifische
sporttherapeutische Behandlungsmethoden und deren Einfluss auf die Genesung nach
einer GE zu untersuchen.
Methoden systematische Literaturrecherche.
Ergebnisse Fünf von sechs randomisiert-kontrollierten Studien
(RCT) zeigten, dass ein aerobes Training (AT) sowohl die Erholungszeit als auch
die Gefahr langfristiger Symptome nach einer GE reduzieren kann. Drei RCTs
zeigten, dass eine vestibuläre Rehabilitation (VR), die insbesondere
Gleichgewichtstraining sowie visuelle und sensomotorische Übungen
umfasst, und manuelle therapeutische Maßnahmen (MT) Symptome wie
z. B. Schwindel, Nackenschmerzen und Kopfschmerzen reduzieren
können. In keiner der neun Studien wurden negative Begleiterscheinungen
bewegungstherapeutischer Maßnahmen nach einer GE beobachtet.
Fazit Sporttherapeutische Maßnahmen scheinen ein effektives
Instrument für die Behandlung nach einer GE zu sein. Eine VR scheint
sich positiv auf die Symptome Schwindel, Nackenschmerzen und/oder
Kopfschmerzen auszuwirken. Ein AT kann hingegen unabhängig von der Art
der Symptomatik eingesetzt werden und die Genesungszeit sowie mögliche
langfristige Symptome nach einer GE reduzieren. Daher sind spezifische
sporttherapeutische Maßnahmen nicht nur wirksam hinsichtlich der
Genesung nach einer GE, sondern sollten bereits nach kurzer Ruhephase initiiert
werden.
The Novel Gabapentinoid Mirogabalin Prevents Upregulation of
α2δ-1 Subunit of Voltage-Gated Calcium Channels
in Spinal Dorsal Horn in a Rat Model of Spinal Nerve Ligation
Authors: Domon Yuki , Kobayashi Naoko , Kubota Kazufumi , Kitano Yutaka , Ueki Hideaki , Shimojo Yumiko , Ishikawa Kayoko , Ofune Yuka 
Published: October 2022

AbstractGabapentinoids are specific ligands for the α2δ-1
subunit of voltage-gated calcium channels. This class of drugs, including
gabapentin and pregabalin, exert various pharmacological effects and are widely
used for the treatment of epilepsy, anxiety, and chronic pain. The mechanism of
action of gabapentinoids involves both direct modulation of calcium channel
kinetics and inhibition of channel trafficking and expression, which contribute
to the above pharmacological effects. In the present study, we investigated the
effects of mirogabalin, a novel potent gabapentinoid, on expression levels of
the α2δ-1 subunit in the spinal dorsal horn in a rat
model of spinal nerve ligation (SNL) as an experimental animal model for
peripheral neuropathic pain. The neuropathic pain state was induced by SNL in
male Sprague – Dawley rats. After the development of mechanical
hypersensitivity, the animals received 10 mg/kg mirogabalin or
vehicle orally for 5 consecutive days and were subjected to immunohistochemical
analysis of α2δ-1 subunit expression in the spinal
cord. In the SNL model rats, expression of the α2δ-1
subunit significantly increased in the spinal dorsal horn at the ipsilateral
side of nerve injury, while mirogabalin inhibited this increase. In conclusion,
the α2δ-1 subunit was upregulated in the spinal
dorsal horn of SNL model rats, and repeated administration of mirogabalin
inhibited this upregulation. The inhibitory effect of mirogabalin on
upregulation of the α2δ-1 subunit after nerve injury
is considered to contribute to its analgesic effects in peripheral neuropathic
pain.
Sleep Disturbances in Neurological Disease: A Target for Intervention
Authors: Khambadkone Seva G. , Benjamin Sara E. 
Published: October 2022

AbstractSleep is a biological function required for neurological and general health, but a significant and under-recognized proportion of the population has disturbed sleep. Here, we briefly overview the biology of sleep, sleep requirements over the lifespan, and common sleep disorders. We then turn our attention to five neurological diseases that significantly contribute to global disease burden and neurology practice makeup: epilepsy, headache, ischemic stroke, Parkinson's disease, and Alzheimer's disease. For each disease, we review evidence that sleep disturbances contribute to disease risk and severity and discuss existing data that addressing sleep disturbances may have disease-modifying effects. We provide recommendations derived from the literature and existing clinical guidelines to facilitate the evaluation and management of sleep disturbances within the context of each neurological disease. Finally, we synthesize identified needs and commonalities into future directions for the field and practical sleep-related recommendations for physicians caring for patients at risk for or currently suffering from neurological disease.
Generating Operative Workflows for Vestibular Schwannoma Resection: A Two-Stage Delphi's Consensus in Collaboration with the British Skull Base Society. Part 2: The Translabyrinthine Approach
Authors: Horsfall Hugo Layard , Khan Danyal Z. , Collins Justin , Cooke Stephen , Freeman Simon R. , Gurusinghe Nihal , Hampton Susie , Hardwidge Carl , Irving Richard , Kitchen Neil , King Andrew , Khalil Sherif , Koh Chan H. , Leonard Colin , Marcus Hani J. , Muirhead William , Obholzer Rupert , Pathmanaban Omar , Robertson Iain J. A. , Shapey Jonathan , Stoyanov Danail , Teo Mario , Tysome James R. , Grover Patrick , Saeed Shakeel R. 
Published: October 2022

Abstract
Objective An operative workflow systematically compartmentalizes operations into hierarchal components of phases, steps, instrument, technique errors, and event errors. Operative workflow provides a foundation for education, training, and understanding of surgical variation. In this Part 2, we present a codified operative workflow for the translabyrinthine approach to vestibular schwannoma resection.
Methods A mixed-method consensus process of literature review, small-group Delphi's consensus, followed by a national Delphi's consensus was performed in collaboration with British Skull Base Society (BSBS). Each Delphi's round was repeated until data saturation and over 90% consensus was reached.
Results Seventeen consultant skull base surgeons (nine neurosurgeons and eight ENT [ear, nose, and throat]) with median of 13.9 years of experience (interquartile range: 18.1 years) of independent practice participated. There was a 100% response rate across both the Delphi rounds. The translabyrinthine approach had the following five phases and 57 unique steps: Phase 1, approach and exposure; Phase 2, mastoidectomy; Phase 3, internal auditory canal and dural opening; Phase 4, tumor debulking and excision; and Phase 5, closure.
Conclusion We present Part 2 of a national, multicenter, consensus-derived, codified operative workflow for the translabyrinthine approach to vestibular schwannomas. The five phases contain the operative, steps, instruments, technique errors, and event errors. The codified translabyrinthine approach presented in this manuscript can serve as foundational research for future work, such as the application of artificial intelligence to vestibular schwannoma resection and comparative surgical research.
Partial Tracheal Defects Closure using Glutaraldehyde-Treated Autologous Pericardium
Authors: Yoshida Shuhei , Matsumoto Isao , Saito Daisuke , Tanaka Yusuke , Takemura Hirofumi , Oi Akishi 
Published: October 2022

Abstract
Background The usefulness of autologous pericardium treated with glutaraldehyde (GA) for tracheal defect closure is unknown. This study preliminarily evaluated whether a GA-treated autologous pericardial graft can effectively close tracheal defects in a beagle model.
Methods Defects of 10 mm × 10 mm were created on the trachea of 10 beagles and divided into a GA-treated group (n = 5), with tracheal reconstruction using GA-treated pericardium, and control group (n = 5), using fresh pericardium. Repair sites were evaluated through bronchoscopy and histology. Blood flows on graft were measured using laser Doppler technique on postoperative days (PODs) 0, 4, 7, 14, 28, and 56. Repair sites were histologically evaluated on POD 56. In addition, GA-treated pericardia of three other beagles were histologically evaluated 12 months postoperatively, for long-term follow-up.
Results All animals survived; none developed anastomotic insufficiency. The mean suturing time and frequency of additional suture were significantly shorter and lower in the GA-treated group than in the control group (p = 0.002, 0.004). All animals in the control group exhibited graft contraction, whereas the GA-treated group healed with most graft residual and reepithelialization in the bronchoscopic and histological findings (p = 0.01, 0.004). Further, all long-term GA-treated pericardia of three beagles were confirmed as residual grafts with reepithelialization, without contraction, at 12 months postoperatively. Blood flows on graft using laser Doppler technique in the GA-treated group were detected at POD 14 or thereafter.
Conclusion GA-treated pericardium was easier to handle and provided favorable scaffolding, without graft contraction, compared with the nontreated pericardium at short- and long-term follow-up.
Novel Case of Prader–Willi Syndrome and Ebstein's Anomaly: Implications for Complex Care Management
Authors: Mattia Donald , Lindblade Christopher , Oatman Oliver , Prakash Supraja , Grebe Theresa 
Published: October 2022

AbstractWe present a patient with a complex phenotype including diagnoses of Ebstein's anomaly and Prader–Willi syndrome (PWS) as well as additional congenital anomalies and genetic variants with potential clinical effects. This is the first reported case of both diagnoses present in the same patient. The diagnosis of Ebstein's anomaly was made on prenatal ultrasound. She presented with neonatal hypotonia, feeding problems, and dysmorphic features, followed by later onset weight gain, leading to a diagnosis of PWS. Further evaluations revealed Blaschkoid hyperpigmentation, laryngeal cleft, and pigmentary retinopathy. Whole exome sequencing determined a likely pathogenic variant in alkaline phosphatase gene and several mitochondrial DNA variants. We discuss the known genetic mechanisms of PWS and compare them to the heterogenous genetic associations of Ebstein's anomaly. The standard of care treatment for PWS is growth hormone therapy, which is associated with right-sided heart failure risks. This case illustrates the need to complete the diagnostic work up in all patients, as well as the necessity of a multidisciplinary approach for optimal outcomes.
Polaronic optical transitions in hematite (α-Fe2O3) revealed by first-principles electron–phonon coupling
Authors: Shelton Jacob L. , Knowles Kathryn E. 
Published: October 2022

Polaron formation following optical absorption is a key process that defines the photophysical properties of many semiconducting transition metal oxides, which comprise an important class of materials with potential optoelectronic and photocatalytic applications. In this work, we use hematite (α-Fe2O3) as a model transition metal oxide semiconductor to demonstrate the feasibility of direct optical population of band edge polaronic states. We employ first-principles electron–phonon computations within the framework of the density functional theory+U+J method to reveal the presence of these states within a thermal distribution of phonon displacements and model their evolution with temperature. Our computations reproduce the temperature dependence of the optical dielectric function of hematite with remarkable accuracy and indicate that the band edge optical absorption and second-order resonance Raman spectra arise from polaronic optical transitions involving coupling to longitudinal optical phonons with energies greater than 50 meV. Additionally, we find that the resulting polaron comprises an electron localized to two adjacent Fe atoms with distortions that lie primarily along the coordinates of phonons with energies of 31 and 81 meV.
Scale-free-modeling (harmonic) vibrational frequencies: Assessing accuracy and cost-effectiveness by CBS extrapolation
Authors: Varandas A. J. C. 
Published: October 2022

Empirical scaling of calculated vibrational harmonic frequencies is a popular approach used in the field of molecular sciences. A nonempirical scheme that aims at reducing their basis set error is suggested here. Nearly as cost-effective as the scaled Kohn–Sham density functional theory (KS DFT), it consists of splitting the frequencies into Hartree–Fock and electron correlation contributions, followed by their extrapolation to the complete basis set (CBS) limit. Since the former converges exponentially, the overall cost may actually equal that of CBS extrapolation of the correlation part. Despite shifts in the molecular geometry during vibration, reasons are advanced to justify the approach, with extrapolation from the first two steps of the basis set ladder being effective in accelerating convergence. As benchmark data, a set of harmonic frequencies and zero-point energies for 15 molecules is employed at the second-order Moller–Plesset and coupled-cluster single double triple [CCSD(T)] levels of theory. The results outperform the optimized KS DFT scaled values. As a second test set, equilibrium structures and harmonic frequencies were computed for H2O2, CH2NH, C2H2O, and the trans-isomer of 1,2-C2H2F2. The results are also encouraging, particularly when improved for excess correlation at the CCSD(T)/VDZ level via the focal-point approach. In extreme cases, CBS extrapolation is done from two double-ζ calculations: one canonical and the other using explicit correlation theory. As a further case study, benzene is considered. While the CCSD(T) results show the smallest deviation from the best estimates, the MP2 results also attain good quality: When improved for excess correlation, they show 6–10 cm−1 errors relative to the best data, only slightly outperformed at the CCSD(T)/CBS level. Tentative results for the fundamental frequencies are also presented.