bluuebunny/crossref_metadata_2025_split huggingface dataset:
From clinical to molecular diagnosis: relevance of the MLPA in one case of recessive myotonia congenita – case report
Authors: Brugnoni Raffaella , Modoni Anna , Canioni Eleonora , Imbrici Paola , Tincheva Savina , Todorova Albena , Maggi Lorenzo , Monaco Mauro Lo 
Published: November 2022

Abstract
Background: Myotonia congenita (MC) is traditionally classified as Thomsen (autosomal dominant) and Becker (autosomal recessive) diseases, caused by mutations in the CLCN1, encoding the skeletal muscle voltage-gated chloride channel (ClC-1). MC is clinically characterized by muscle stiffness at the beginning of exercise (i.e. myotonia), alleviated by repetition of contraction (ie. warm-up effect).
Case presentation:We report here an Italian patient affected by diffuse muscle hypertrophy, predominant in lower limb, neck, and trapezius and difficulty in getting up from a chair after prolonged rest, suggestive of recessive MC. The combination of a specific next-generation sequencing panel for skeletal muscle channelopathies and multiplex ligation-dependent probe amplification for CLCN1gene, leaded to patient’s molecular characterization with the detection of the known p.G482R mutation and a novel deletion of the last 3 exons [c.(2403+1_2404-1)_*39del].
Conclusions: This report demonstrates the importance of combining multiple genetic techniques to define recessive forms of MC.
Composite Phase Change Materials Embedded into Cellulose/Polyacrylamide/Graphene Nanosheets/silver Nanowire Hybrid Aerogels Simultaneously with Effective Thermal Management and Anisotropic Electromagnetic Interference Shielding
Authors: Wu Changmei , Zeng Lingjun , Chang Guojun , Zhou Ying , Yan Kang , Xie Lan , Xue Bai , Zheng Qiang 
Published: November 2022

Abstract
Exploiting an advanced material simultaneously with effective thermal management (TM) and electromagnetic interference (EMI) shielding capacity is ungently demanded yet challenging for the miniaturized and integrated electronics. Anisotropic networks can be impregnated with phase change materials (PCMs) to fabricate multifunctional shape-stable PCMs (ss-CPCMs) simultaneously with excellent TM and anisotropic EMI shielding, which is rarely reported. Herein, the anisotropic cellulose/polyacrylamide/graphene nanosheet/silver nanowire (CPGxAy) hybrid aerogels with excellent conductive networks were successfully prepared using directional freeze-drying method, and then utilized as supporting skeletons to embed polyethylene glycol (PEG) via vacuum-assistant impregnation. Profited by the synergistic effect of graphene nanosheets (GNPs) and silver nanowires (AgNWs), the resultant PEG@CPGxAy ss-CPCMs exhibit fascinating thermal conductivity (TC) of 0.84 W/m·K (195.21% increase in comparison with that of pure PEG) and anisotropic EMI shielding effectiveness of 71.08 dB along the transverse direction and 35.21 dB along the longitudinal direction, while remaining high melting and crystallization enthalpy efficiency of 93.47% and 93.08%, respectively. In addition, PEG@CPGxAy ss-CPCMs also display great shape stability, thermal stability, and cyclic reusability in the storing/releasing latent heat processes. This investigation sheds new light on designing and fabricating ss-CPCMs with pretty comprehensive properties for TM and EMI shielding of modern electronics.
H-CoNiSe2/NC Dodecahedral Hollow Structures for High-performance Supercapacitors
Authors: Ensafi Ali A. , Salehan P. , Andikaey Z. , Rezaei B. 
Published: November 2022

Abstract
The synergistic effect between metal ions and increasing the surface area leads to the fabrication of supercapacitor materials with high capacity. It is predicted that transition metal selenide compounds will be ideal electrode materials for supercapacitors. However, the defects of poor conductivity and volume expansion of the compounds are fundamental problems that must be solved. In this work, we successfully synthesized the cobalt-nickel selenide nitrogen-doped carbon (H-CoNiSe2/NC) hollow polyhedral composite structure using ZIF-67 as a precursor. The CoSe2 and NiSe2 nanoparticles embedded in the NC polyhedral framework offer a wealth of active sites for the whole electrode. Moreover, the presence of the NC structure in the proposed composite can simultaneously lead to improved conductivity and reduce the volume effect created during the cycling procedure. The H-CoNiSe2/NC electrodes provide high specific capacity (1131 C/g at 1.0 A/g) and outstanding cyclic stability (91.4% retention after 3000 cycles). In addition, the H-CoNiSe2/NC//AC hybrid supercapacitors deliver ultrahigh energy density and power density (81.9 Wh/kg at 900 W/kg) and excellent cycle stability (93.5% of initial capacity after 3000 cycles). This study will provide a supercapacitor electrode material with a high specific capacity for energy storage devices.
The lattice structure for the partial orders induced by uninorms with the underlying t-norms (t-conorms ) TD (SD)
Authors: Liu Zhi-qiang 
Published: November 2022

Abstract
In this article, the lattice structure for the partial orders induced by uninorms with divisible (resp. non-divisible) the underlying t-norms and t-conorms is characterized. We first obtain the conditions for the partial orders induced by uninorms to be a lattice. Then we completely characterize the distributivity of the lattice structure for the partial orders induced by uninorms.
JWST reveals a possible z ∼ 11 galaxy merger in triply-lensed MACS0647–JD
Authors: Hsiao Tiger Yu-Yang , Coe Dan , Abdurro'uf Abdurro'uf , Whitler Lily , Jung Intae , Khullar Gourav , Meena Ashish Kumar , Dayal Pratika , Barrow Kirk , Santos-Olmsted Lillian , Casselman Adam , Vanzella Eros , Nonino Mario , Jimenez-Teja Yolanda , Oguri Masamune , Stark Daniel , Furtak Lukas , Zitrin Adi , Adamo Angela , Brammer Gabriel , Bradley Larry , Diego Jose M. , Zackrisson Erik , Finkelstein Steven , Windhorst Rogier , Bhatawdekar Rachana , Hutchison Taylor , Broadhurst Thomas , Dimauro Paola , Andrade-Santos Felipe , Eldridge Jan , Acebron Ana , Avila Roberto , Bayliss Matthew , Benitez Alex , Binggeli Christian , Bolan Patricia , Bradac Marusa , Carnall Adam , Conselice Christopher , Donahue Megan , Frye Brenda , Fujimoto Seiji , Henry Alaina , James Bethan , Kassin Susan , Kewley Lisa , Larson Rebecca , Lauer Tod , Law David , Mahler Guillaume , Mainali Ramesh , McCandliss Stephan , Nicholls David , Pirzkal Norbert , Postman Marc , Rigby Jane , Ryan Russell , Senchyna Peter , Sharon Keren , Shimizu Ikko , Strait Victoria , Tang Mengtao , Trenti Michele , Vikaeus Anton , Welch Brian 
Published: November 2022

Abstract
Galaxies have formed from the repeated mergers of small star-forming clumps over cosmic time, with some small galaxies left over even today, such as the Magellanic clouds. JWST has now discovered two such small galaxies within the first 430 billion years, that are seen close to the very start of this process. MACS0647--JD is a triply-lensed $z \sim 11$ galaxy originally discovered with the \emph{Hubble Space Telescope}. Here we report new JWST imaging, which clearly resolves MACS0647--JD as having two components that are either merging galaxies or stellar complexes within a single galaxy. The brighter larger component ``A'' is intrinsically very blue ($\beta \sim -2.6$), likely due to very recent star formation and no dust, and is spatially extended with an effective radius $\sim70\,{\rm pc}$. The smaller component ``B'' appears redder ($\beta \sim -2$), likely because it is older (100--200\,Myr) with mild dust extinction ($A_V \sim 0.1$\,mag), and a smaller radius $\sim20\,{\rm pc}$. We identify galaxies with similar colors in a high-redshift simulation, finding their star formation histories to be out of phase. JWST NIRSpec observations planned for January 2023 will deliver a spectroscopic redshift and a more detailed study of the physical properties of MACS0647--JD.
Correction loss following short-segment posterior fixation for traumatic thoracolumbar burst fractures related to endplate and intervertebral disc destruction
Authors: Hashimura Takumi , Onishi Eijiro , Ota Satoshi , Tsukamoto Yoshihiro , Yamashita Shinnosuke , Yasuda Tadashi 
Published: November 2022

Abstract
Background
Short-segment posterior fixation (SSPF) for traumatic thoracolumbar burst fractures has been widely used. Few studies have addressed the association between the destruction of the vertebral endplate and adjacent disc and postoperative correction loss. This study aimed to investigate the risk factors for correction loss after SSPF.
Methods
This study included 48 patients (mean age of 35.0 years) who underwent SSPF for thoracolumbar burst fracture. The mean postoperative follow-up period was 25.7 months (range, 12–98 months). Neurological status and postoperative back pain were assessed using medical records. The segmental kyphotic angle (SKA) and anterior vertebral body height ratio (AVBHR) were measured as radiographic parameters to evaluate the indirect reduction of the vertebral body and local kyphosis. The intervertebral disc and vertebral endplate injury severity were assessed using the preoperative Sander’s traumatic intervertebral disk lesions (TIDL) classification and AO classification. Correction loss was considered to be present if ΔSKA was ≥ 10°. Multivariate logistic regression analysis was performed to identify risk factors for postoperative correction loss.
Results
The distribution of fractures was as follows: 10 in T12, 17 in L1, 10 in L2, 9 in L3, and 2 in L4. Vertebral fractures were classified as follows: 13 patients had type A3, 11 had A4, 11 had B1, and 13 had B2. Union of the fractured vertebrae was achieved in 47 patients (98%). SKA and AVBH significantly improved after surgery from 11.6° to 3.5° and from 67.2–90.0%, respectively; however, correction loss at follow-up were 10.4° and 9.7%, respectively. Severe TIDL (Grade 3) was observed in 20 patients (42%). Patients with TIDL grade 3 showed significantly greater ΔSKA and ΔAVBHR after surgery than patients with TIDL grade 0–2. The multivariate logistic regression analysis revealed that the presence of cranial grade 3 TIDL and an older age were significant risk for ΔSKA ≥ 10°. All patients were able to walk at final follow-up. The postoperative severe back pain was associated with TIDL grade 3 and ΔSKA ≥ 10°.
Conclusion
Severe disc and endplate destruction at injury and older age are risk factors for correction loss following SSPF for thoracolumbar burst fractures.
Thyroid dysfunction after immune checkpoint inhibitor treatment in a single-center Chinese cohort: a retrospective study
Authors: Wu Lingge , Xu Yan , Wang Xiang , Cheng Xinqi , Zhang Yuelun , Wang Yingyi , Fan Xinrong , Zhao Haitao , Liu He , Chai Xiaofeng , Zhang Li , Wang Mengzhao , Li Naishi , Pan Hui , Lian Xiaolan 
Published: November 2022

Abstract
Background
Thyroid dysfunction is a common adverse event after immune checkpoint inhibitor (ICI) therapy. The clinical manifestations of thyroid immune-related adverse events (irAEs) are variable and the underlying mechanism is unclear.
Purpose
To identify the clinical and biochemical characteristics of Chinese patients with ICI-related thyroid dysfunction.
Methods
We retrospectively reviewed patients with carcinoma who received ICI therapy and underwent evaluation of thyroid function during hospitalization at Peking Union Medical College Hospital between January 1, 2017 and December 31, 2020. Clinical and biochemical features were analyzed in patients who developed ICI-related thyroid dysfunction. Survival analyses were performed to determine the effect of thyroid autoantibodies on thyroid abnormalities and the impact of thyroid irAEs on clinical outcomes.
Results
The cohort included 270 patients with a median follow-up of 17.7 months; 120 (44%) of these patients developed thyroid dysfunction on immunotherapy. The most common thyroid irAE was overt hypothyroidism (with/without transient hyperthyroidism), which occurred in 38% of patients (n = 45), followed by subclinical thyrotoxicosis (n = 42), subclinical hypothyroidism (n = 27), and isolated overt thyrotoxicosis (n = 6). The median time to onset was 49 days (interquartile range 23, 93) for thyrotoxicosis and 98 days (interquartile range 51, 172) for hypothyroidism. In patients treated with PD-1 inhibitors, hypothyroidism was strongly associated with younger age (odds ratio [OR] 0.44, 95% confidence interval [CI] 0.29–0.67; P < 0.001), previous thyroid disease (OR 4.30, 95% CI 1.54–11.99; P = 0.005), and a higher baseline thyroid-stimulating hormone level (OR 2.76, 95% CI 1.80–4.23; P < 0.001). Thyrotoxicosis was only associated with the baseline thyroid-stimulating hormone (TSH) level (OR 0.59, 95% CI 0.37–0.94; P = 0.025). Thyroid dysfunction after initiation of ICI therapy was associated with better progression-free survival (hazard ratio [HR] 0.61, 95% CI 0.44–0.86; P = 0.005) and overall survival (hazard ratio 0.67, 95% CI 0.45–0.99; P = 0.046). Anti-thyroglobulin antibody positivity increased the risk of thyroid irAEs.
Conclusions
Thyroid irAEs are common and have diverse phenotypes. Heterogeneity between thyrotoxicosis and hypothyroidism is arising with distinct clinical and biochemical characteristics. The pathogenesis of thyroid irAEs warrants further research.
From ambient vibration data analysis to 1D ground-motion prediction of the Mj 5.9 and the Mj 6.5 Kumamoto earthquakes in the Kumamoto alluvial plain, Japan.
Authors: Hailemikael Salomon , Giulio Giuseppe Di , Milana Giuliano , Vassallo Maurizio , Bordoni Paola 
Published: November 2022

Abstract

We present horizontal ground motion predictions at a soft site in the Kumamoto alluvial plain for the Mj 5.9 and Mj 6.5 Kumamoto earthquakes of April 2016, in the framework of an international blind prediction exercise (http://www.esg6.jp/). Such predictions were obtained by leveraging all available information which included: i) analysis of earthquake ground motions, ii) processing of ambient vibration data (AMV) and iii) 1D ground response analysis. Spectral analysis of earthquake ground-motion data were used to obtain empirical estimates of the prediction site amplification function, with evidence of an amplification peak at about 1.2 Hz. Horizontal-to-vertical spectral ratio analysis of AMV confirmed this resonance frequency and pointed out also a low frequency resonance around 0.3 Hz at the prediction site. AMV were then processed by cross-correlation, modified spatial autocorrelation and high-resolution beamforming methods to retrieve the 1D shear-wave velocity (Vs) structure at the prediction site by joint inversion of surface-wave dispersion and ellipticity curves. The use of low frequency dispersion curve and ellipticity data allowed to retrieve a reference Vs profile down to few thousand meters depth which was then used to perform 1D equivalent-linear simulations of the M 5.9 event, and both equivalent-linear and nonlinear simulations of the M 6.5 event at the target site. Adopting quantitative goodness-of-fit metrics based on time-frequency representation of the signals, we obtained fair-to-good agreement between 1D predictions and observations for the Mj 6.5 earthquake and a poor agreement for the Mj 5.9 earthquake. In terms of acceleration response spectra, while ground-motion overpredictions were obtained for the Mj 5.9 event, simulated ground motions for the Mj 6.5 earthquake severely underestimate the observations, especially those obtained by the nonlinear approach.
Extracellular vesicles maintain RNA homeostasis in Plasmodium falciparum
Authors: Abdi Abdirahman , Mwikali Kioko , Pence Alena , Mwangi Shaban , Goulding David , KEMP Alison , Rono Martin , Ochola-Oyier Lynette , Bull Peter , Bejon Philip , Rayner Julian 
Published: November 2022

Abstract
The authors have requested that this preprint be removed from Research Square.
Rasch Analysis of Novel General Medication Adherence Scale (GMAS) for Chronic Illness Patients in China
Authors: Meng Xiaoxuan , Li Dongyan , Li Siyuan , Lv Qingyun , Wang Xiaoxu , Wang Yan , Zang Xiaoying , Zhang Qing , Wang Lan 
Published: November 2022

AbstractObjective:This study aims to verify the efficacy of General Medication Adherence Scale (GMAS), which development by Atta Abbas Naqvi, in patients with chronic diseases by Rasch analysis, and to provide targeted suggestions for subsequent revision.Methods:A cross-sectional survey was conducted to collect the data of 312 patients from two tertiary hospitals and one community health service center in Tianjin from January to June 2020. SPSS version 22.0 was used for univariate analysis, and Winsteps V.3.74.0 was used for Rasch analysis to analyze the measurement of medication adherence.Results:The scale met the unidimensional test, the difficulty of the questions was moderate, the general medication adherence of the tested patients was suitable, and the reliability and separation index were suitable. After removing 56 samples with poor model fit, all items of the scale were fitted successfully with Rasch model, and the mean square (MNSQ) ranged from 0.76 to 1.25. The analysis of differential item functioning (DIF) showed that all items were comparable in gender and different education level. But some items had DIF in whether they had comorbidities.Conclusion:Through Rasch analysis of GMAS scale, we can conclude that the scale has better detection efficiency. It is suggested to add some items to make the scale more effective in distinguishing and identifying groups with good medication adherence. Finally, some GMAS entries need to be adjusted for use in patients with comorbidities.
Preservation of Conditioned Behavior Based on UV Light Sensitivity in Dissected Tail Halves of Planarians- a Proof by DNN
Authors: Shimojo Kensuke , Shimojo Eiko , Katsuragi Reiya , Akashi Takuya , Shimojo Shinsuke 
Published: November 2022

Abstract
Planarians are aquatic worms with powerful regenerative and memory retention abilities. This paper examines whether a dissected tail half of a Planarian (Dugesia Dorotocephala) can retain and exhibit a previously-conditioned response, possibly before the regeneration of the head and the ganglia. We conditioned intact Planarians in a Pavlovian procedure with an electric shock (ES) as the unconditioned stimulus and weak ultraviolet (UV) light as the conditioned stimulus. Then, we dissected their bodies into halves, keeping the dissected tail halves. Starting from the 2nd day after dissection, we presented the same UV light 3 times daily while video-recording the responses. The recorded responses were then classified by a DNN: a VGG16 model was pre-trained by ImageNet for extracting features from images and additionally trained with 211 responses to ES and 118 to UV light before conditioning/dissection to categorize planarians’ reactions into “UV-induced” or “ES-induced” reactions. The cross-validated accuracy in categorization was 83.6%. We then let the DNN analyze 99 recorded responses to UV from 20 individual conditioned tail halves. 96.8% of their reactions were classified as “ES-induced” (against 22.0% wrongly classified as “ES-induced” for unconditioned samples under UV), indicating they have shown the “Conditioned Response” (p < 3.06E-30). This provides evidence that planarians can conserve and reveal a learned response even without the head/ganglia, as it takes approximately 7 days for the head/ganglia to regenerate versus the given 2–3 days. Although similar findings have been reported repeatedly in the literature, this is the first positive evidence with automated procedures and DNN classification. The result implies the presence of a decentralized nervous structure outside of its head/ganglia that allows a tail half to retain memory and execute motion accordingly, despite their cephalization.
Evaluation of pitting corrosion by dynamic speckle pattern analysis
Authors: Pedram Omid , Jamali Ramin , Rad Vahideh Farzam , Khamedi Ramin , Poursaeidi Esmaeil , Moradi Ali-Reza 
Published: November 2022

Abstract
We use the dynamic speckle pattern method for the investigation of pitting corrosion. Pitting corrosion is a major failure mechanism in metals caused by the depassivation of a small area. The sample is Custom 450 stainless steel in 3.5 wt% NaCl solution and a potential of 350 mV SCE is applied to onset the corrosion. The analysis of the speckle patterns resulting from the laser scattering from the sample results in the quantitate evaluation of pitting during the experiment. The analysis shows that the growth rate of pitting in longer times decreases. This method for corrosion evaluation is low-cost, in situ, and easy to implement, and it is especially useful when the samples are difficult to reach for microscopic studies.
Transcriptome analysis reveals vimentin-induced disruption of cell-cell associations augments cancer cell migration
Authors: Usman Saima , Jamal Ahmad , Bushaala Antesar , Waseem Naushin H , Al-Dehlawi Hebah , Yeudall Andrew , Teh Muy-Teck , Tummala Hemanth , Waseem Ahmad 
Published: November 2022

Abstract

In advanced metastatic cancers with reduced patient survival and poor prognosis, expression of vimentin, a type III intermediate filament protein is frequently observed. Vimentin appears to suppress epithelial characteristics and augments cell migration but the molecular basis for these changes are not well understood. Here we have ectopically expressed vimentin in MCF-7 and investigated its genomic and functional implications. Vimentin changed the cell shape, by decreasing major axis and major axis angle, and increased cell migration, without affecting proliferation. Vimentin downregulated major keratin genes KRT8, KRT18 and KRT19. Transcriptome-coupled GO and KEGG analyses revealed that vimentin-affected genes were linked to either cell-cell/cell-ECM or cell cycle/proliferation specific pathways. Using shRNA mediated knockdown of vimentin in two breast cancer cell types; MCF-7FV (ectopically expressing) and MDA-MB-231 (endogenously expressing), we identified a vimentin-specific signature consisting of 13 protein encoding genes (CDH5, AXL, PTPRM, TGFBI, CDH10, FOXM1, BCL2, NES, E2F1, FOXM1, CDC45, FSD1, BCL2, KIF26A and WISP2) and two long non-coding RNAs, LINC00052 and C15ORF9-AS1. CDH5, an endothelial cadherin, which mediates cell-cell junctions was the most downregulated protein encoding gene. Interestingly, downregulation of CDH5 by shRNA significantly increased cell migration confirming our RNA-Seq data. Furthermore, vimentin reduced MCF-7 nuclear area perhaps through altered lamin expression. Collectively, we demonstrate, for the first time, that vimentin in cancer cells changes nuclear architecture by affecting lamin expression, which downregulates genes maintaining cell-cell junctions resulting in increased cell migration.