bluuebunny/crossref_metadata_2025_split huggingface dataset:
Proteasome disorders and inborn errors of immunity
Authors: Poli M. Cecilia 
Published: December 2023

SummaryInborn errors of immunity (IEI) or primary immune deficiencies (PIDD) are caused by variants in genes encoding for molecules that are relevant to the innate or adaptive immune response. To date, defects in more than 450 different genes have been identified as causes of IEI, causing a constellation of heterogeneous clinical manifestations ranging from increased susceptibility to infection, to autoimmunity or autoinflammation. IEI that are mainly characterized by autoinflammation are broadly classified according to the inflammatory pathway that they predominantly perturb. Among autoinflammatory IEI are those characterized by the transcriptional upregulation of type I interferon genes and are referred to as interferonopathies. Within the spectrum of interferonopathies, genetic defects that affect the proteasome have been described to cause autoinflammatory disease and represent a growing area of investigation. This review is focused on describing the clinical, genetic, and molecular aspects of IEI associated with mutations that affect the proteasome and how the study of these diseases has contributed to delineate therapeutic interventions.
Overcoming the cyan gap for full‐spectrum lighting using cation‐substitution‐induced rigid Ca2YZr2Al3O12:Ce3+
Authors: He Xinjian , Li Shengjuan , Deng Mingxue , Tang Yangmin , Wang Machao , Wang Cheng , Zhou Zhenzhen , Wang Jiacheng 
Published: December 2023

AbstractMixing multicolor phosphors for simulating the full spectrum of sunlight illumination is a popular solution to obtain high‐quality white light. However, there is still a need to overcome the cyan gap in the emission spectrum. In this work, a series of garnet Ca2Y0.94–xLuxZr2–yHfyAl3O12:6%Ce3+ (abbreviated as CY0.94–xLuxZr2–yHfyA:Ce3+) cyan phosphors are designed and prepared by substituting Y3+ and Zr4+ in Ca2YZr2Al3O12:6%Ce3+ with Lu3+ and Hf4+ with smaller ionic radius and larger mass. Under 405 nm violet light excitation, the optimized Ca2Y0.88Lu0.06Hf2Al3O12:6%Ce3+ (CY0.88Lu0.06Hf2A:Ce3+) shows a bright cyan emission band in the range of 430–750 nm with the peak at 477 nm. Importantly, the emission intensity and thermal stability properties of CY0.88Lu0.06Hf2A:Ce3+ were significantly improved by 58% and 47% compared to those of pure Ca2YZr2Al3O12:Ce3+. Small and heavy cation substitution could induce highly stable rigid structure, thus enhancing emission intensity and stability. The color rendering index increases from 84.5 to 92.0 after supplementing CY0.88Lu0.06Hf2A:Ce3+ phosphor in white light‐emitting diode devices combining commercial red, green, and blue phosphors with a violet chip, indicating its practical application in full‐spectrum lighting. The present study provides promising strategies for the design and development of efficient cyan materials for high‐quality full visible spectrum light‐emitting diode lighting.
Limits of critical grain size for the tetragonal phase stabilization in CaO‐doped ZrO2 ceramic and associated benefits
Authors: Kumar Lakshaman , Ali Faiz , Lakshya Annu Kumar , Chowdhury Anirban 
Published: December 2023

AbstractRecently, CaO‐doped (≤4 mol.%) tetragonal zirconia (CaSZ) ceramic was recommended as a potential alternative to yttria‐stabilized ZrO2 (YSZ). Here, we investigate the limits of starting particle sizes on the stability of tetragonal (t) phase and other associated benefits on measured properties. Synthesized CaSZ powders calcined with different temperatures were used as a mono‐sized or mixed (i.e., two different calcination temperatures) batch fraction for making dense CaSZ ceramic. The mixed‐batch powders were found to be far more efficient in stabilizing the t‐phase in ceramic. Compared to YSZ, CaSZ recorded remarkable enhancement in toughness (up to 8.3 MPa ). Contrary to YSZ, CaSZ ceramic demonstrated outstanding thermal stability.
Cardiac magnetic resonance for early atrial lesion visualization post atrial fibrillation radiofrequency catheter ablation
Authors: Guglielmo Marco , Rier Sophie , Zan Giulia De , Krafft Axel J. , Schmidt Michaela , Kunze Karl P. , Botnar Rene M. , Prieto Claudia , van der Heijden Jeroen , Van Driel Vincent , Ramanna Hemanth , van der Harst Pim , van der Bilt Ivo 
Published: December 2023

AbstractBackgroundIncomplete atrial lesions resulting in pulmonary vein‐left atrium reconnection after pulmonary vein antrum isolation (PVAI), are related to atrial fibrillation (AF) recurrence. Unfortunately, during the PVAI procedure, fluoroscopy and electroanatomic mapping cannot accurately determine the location and size of the ablation lesions in the atrial wall and this can result in incomplete PVAI lesions (PVAI‐L) after radiofrequency catheter ablation (RFCA).AimWe seek to evaluate whether cardiac magnetic resonance (CMR), immediately after RFCA of AF, can identify PVAI‐L by characterizing the left atrial tissue.MethodsTen patients (63.1 ± 5.7 years old, 80% male) receiving a RFCA for paroxysmal AF underwent a CMR before (<1 week) and after (<1 h) the PVAI. Two‐dimensional dark‐blood T2‐weighted short tau inversion recovery (DB‐STIR), Three‐dimensional inversion‐recovery prepared long inversion time (3D‐TWILITE) and three‐dimensional late gadolinium enhancement (3D‐LGE) images were performed to visualize PVAI‐L.ResultsThe PVAI‐L was visible in 10 patients (100%) using 3D‐TWILITE and 3D‐LGE. Conversely, On DB‐STIR, the ablation core of the PAVI‐L could not be identified because of a diffuse high signal of the atrial wall post‐PVAI. Microvascular obstruction was identified in 7 (70%) patients using 3D‐LGE.ConclusionCMR can visualize PVAI‐L immediately after the RFCA of AF even without the use of contrast agents. Future studies are needed to understand if the use of CMR for PVAI‐L detection after RFCA can improve the results of ablation procedures.
Higher‐order sensorimotor circuit of the whole‐brain functional network involved in pruritus regulation in atopic dermatitis
Authors: Wu Haishan , Dai Wenyu , Hong Zhaoyi , Qin Yue , Yang Min , Wang Bolun , Liao Jieyue 
Published: December 2023

AbstractBackgroundLittle is known about the neural mechanisms underlying pruritus regulation in Atopic dermatitis (AD).ObjectiveTo investigate the functional changes of the resting‐state whole brain network of AD participants and the mechanisms by which they were involved in pruritus regulation.MethodBased on the functional magnetic resonance imaging data from 19 AD participants and 37 healthy controls (HC), a graph‐theoretical measure of degree centrality (DC) conjoined with a voxel‐level seed‐based functional connectivity (FC) method was used to identify abnormal higher‐order nodes and the functionally relevant circuit in AD participants compared to healthy controls (HC).ResultsOf 64 participants screened, 19 AD participants (12M/7F, median [IQR] age, 27 [14] years) and 36 HCs (13M/23F, median [IQR] age, 20 [1] years) were enrolled. DC values of the left superior frontal gyrus (LSFG) increased in AD participants and exhibited a negative correlation with the SCORAD score (r = −0.561, p = 0.012) compared with HC. In the FC analysis with LSFG as the seed, FC values of several sensory and motor regions increased in AD participants, highly overlapping with the anatomical distribution of the inferior fronto‐occipital fascicle (IFOF). AD participants with severe pruritus exhibited lower levels of DC (T = −2.316, p = 0.033) and FC between the LSFG and left insula (T = −2.203, p = 0.042) than those with mild‐to‐ moderate pruritus.Conclusions and RelevanceLSFG was involved in pruritus regulation in AD by forming a high‐order sensorimotor circuit through the IFOF, a white matter fascicle that proved to provide multimodal integration in motor control and sensory information processing. These results offer more mechanism‐guided treatment targets for severe pruritus in AD.
Active mutual funds and their passive ETF investments
Authors: Chen Hsiu‐Lang 
Published: December 2023

AbstractInvesting in exchange‐traded funds (ETFs) rather than investing directly in the underlying securities surely prompts questions for mutual funds. Why? Examination suggests the answer is to reduce overall portfolio volatility. Actively managed open‐end equity funds (OEFs) that invest in ETFs tend to take short positions in securities and to short ETFs more than other securities. Investigation of the overlap in portfolio composition between OEFs and the ETFs they hold as well as their investing positions in hedging and nonhedging ETFs separately points to the main motivation for such ETF investment—hedging.
A proposal to model the pasting curve of gluten‐free bakery formulations
Authors: Vidaurre‐Ruiz Julio , Salas‐Valerio Walter , Briceño‐Berrú Luis , Baldeón Edwin O. , Repo‐Carrasco‐Valencia Ritva , Correa María Jimena 
Published: December 2023

AbstractThis research aimed to propose a comprehensive mathematical model that allows simulation of the viscosity profile achieved during the pasting analysis of gluten‐free bakery product formulations. The model divides the pasting curve into three parts, utilizing the modified Hill equation for gelatinization, the Gompertz equation for breakdown and retrogradation, and introduces novel parameters (Krheo1, Krheo2, Krheo3) to quantify the areas under each curve section. Validation involved viscoamylographic profiles of gluten‐free muffins with potato starch and Andean grain flours, with and without adding xanthan gum (XG). Results indicate XG increases resistance to gelatinization and decreases swelling rate in potato starch, while Andean grain flours with XG increase swelling rate. Gompertz equation parameters reveal improved heat stability and reduced retrogradation with Andean grain flours and XG. The proposed model serves as a versatile tool for interpreting ingredient effects, aiding in the optimization of starch‐containing food formulations.Practical applicationsThe viscosity profile obtained in Rapid Visco Analyzer (RVA) test is of utmost importance for the development of gluten‐free bakery products because it allows us to understand the viscosity behavior of the system during the baking process, which is essential to achieve the proper consistency in the dough. The absence of gluten in gluten‐free formulations can make the dough less stable during baking; therefore, the mathematical modeling of the viscosity profile obtained during the pasting analysis helps to understand how the ingredients affect the system's stability, providing information about the gelatinization, breakdown, and retrogradation rates of starches. It also aids in understanding the consistency of the system at the end of the analysis, enabling adjustments to formulations to prevent dough stability issues during the baking process.
The FLOODLABEL as a social innovation in flood risk management to increase homeowners' resilience
Authors: Meyer Helene , Hartmann Thomas 
Published: December 2023

AbstractIn flood risk management awareness has been growing that the responsibility for coping with a flood cannot be assumed by the government alone. Homeowners need to be actively involved in flood risk management by taking responsibility; for this, they need empowerment and support to take adequate precautions. If homeowners implement precautionary measures, they can mitigate damage caused by floods and thus increase their resilience. This requires an appropriate risk communication strategy with the population. The FLOODLABEL in Germany informs and prompts homeowners to take precautionary measures. The Flood Competence Center developed the FLOODLABEL. This study employs the analytical framework of social innovation as the FLOODLABEL has some characteristics of social innovation. This study first explores the FLOODLABEL, which constitutes social innovation in flood risk management, and therefore characterizes the five development phases and their successes and challenges as social innovation. Second, it tries to understand and reflect upon the current stage of the FLOODLABEL as a social innovation in Germany and seeks to learn from this tool about the potential drivers associated with the process of implementation. Third, there is potential to gather a better understanding of other social innovations in flood risk management.
Association between results of an amyloid PET scan and healthcare utilization in individuals with cognitive impairment
Authors: Jutkowitz Eric , Shewmaker Peter , Ford Cassie B. , Smith Valerie A. , O'Brien Emily , Shepherd‐Banigan Megan , Belanger Emmanuelle , Plassman Brenda L. , Burke James R. , Van Houtven Courtney H. , Wetle Terrie 
Published: December 2023

AbstractBackgroundThe Imaging Dementia Evidence for Amyloid Scanning (IDEAS) study reports that amyloid PET scans help providers diagnose and manage Alzheimer's disease and related dementias (ADRD). Using CARE‐IDEAS, an IDEAS supplemental study, we examined the association between amyloid PET scan result (elevated or non‐elevated amyloid), patient characteristics, and participant healthcare utilization.MethodsWe linked respondents in CARE‐IDEAS study to their Medicare fee‐for‐service records (n = 1333). We examined participants' cognitive impairment‐related, outpatient, emergency department (ED), and inpatient encounters in the year before compared with the 2 years after the amyloid PET scan.ResultsIndividuals with a non‐elevated amyloid scan had more healthcare encounters throughout the overall study period than those with an elevated amyloid scan. Regardless of the amyloid scan result, cognitive impairment‐related and outpatient encounters overall decreased, but ED and inpatient encounters increased in the 2 years after the scan compared with the year prior. There was minimal evidence of differences in healthcare utilization between participants with an elevated and non‐elevated amyloid scan.ConclusionsThere is no difference in change in healthcare utilization between people with scans showing elevated and non‐elevated beta‐amyloid.
Involvement of spinal NADPH oxidase 4 and endoplasmic reticulum stress in morphine‐tolerant rats
Authors: Xiao Xuyang , Yang Jingjie , Bai Qian , Wang Zhitao , Chen Yan , Si Yue , Xu Yaowei , Li Zhisong , Bu Huilian 
Published: December 2023

AbstractMorphine tolerance (MT) is currently a challenging issue related to intractable pain treatment. Studies have shown that reactive oxygen species (ROSs) derived from NADPH oxidase (NOX) and produced in response to endoplasmic reticulum (ER) stress participate in MT development. However, which NOX subtype initiates ER stress during MT development is unclear. NOX4 is mainly expressed on intracellular membranes, such as the ER and mitochondrial membranes, and its sole function is to produce ROS. Whether NOX4 is activated during MT development and the mechanisms underlying the association between NOX4 and ER stress during this process still need to be confirmed. In our study, we used the classic morphine‐tolerant rat model and evaluated the analgesic effect of intrathecally injected morphine through a hot water tail‐flick assay. Our research demonstrated for the first time that chronic morphine administration upregulates NOX4 expression in the spinal cord by activating three ER stress sensors, protein kinase RNA‐like ER kinase (PERK), inositol‐requiring enzyme 1 (IRE1) and activating transcription factor 6 (ATF6), subsequently leading to the activation of microtubule‐associated protein 1 light chain 3 b (LC3B) and P62 (a well‐known autophagy marker) in GABAergic neurons. Our results may suggest that regulating NOX4 and the key mechanism underlying ER stress or autophagy may be a promising strategy to treat and prevent MT development.image
Prognostic value of neurofilament light in blood in patients with polyneuropathy: A systematic review
Authors: Kodal Louise Sloth , Witt Anne Møller , Pedersen Britt Stævnsbo , Aagaard Morten Müller , Dysgaard Tina 
Published: December 2023

AbstractNeurofilament light protein (NfL) is a part of the neuronal skeleton, primarily expressed in axons, and is released when nerves are damaged. NfL has been found to be a potential diagnostic biomarker in different types of polyneuropathies. However, whether NfL levels can be used as a predictor for the risk of disease progression is currently less understood. We searched MEDLINE (PubMed), Embase, Cochrane Library, and Web of Science Searches and included longitudinal studies with a baseline and follow‐up examination of adult patients with polyneuropathy and NfL measured in blood. Twenty studies investigating NfL as a predictor of disease progression were identified, examining eight polyneuropathy subtypes. The results from studies in Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) patients were divergent, with two out of five studies finding a significant association between NfL levels and clinical outcomes. Meta‐analysis of the three Guillian‐Barré Syndrome (GBS) studies found higher odds for the inability to run after 1 year in patients with high levels of NfL (odds ratio 2.18, 95% confidence interval 1.04–4.56). Results from studies examining other subacute or chronic polyneuropathies like Charcot–Marie–Tooth (CMT) varied in study design and results. Our findings suggest NfL can be used as a predictor of disease progression, particularly in polyneuropathies such as CIDP and GBS. However, NfL may not serve as a reliable and cost‐effective biomarker for slowly progressive polyneuropathies like CMT. Future standardized studies considering NfL as a prognostic blood biomarker in patients with different types of polyneuropathies are warranted.
Hyaluronic acid enhances cell migration, viability, and mineralized tissue‐specific genes in cementoblasts
Authors: Hakki Sema S. , Bozkurt Serife Buket , Sculean Anton , Božić Darko 
Published: December 2023

AbstractBackground/ObjectivesIt has been repeatedly demonstrated that cementum formation is a crucial step in periodontal regeneration. Hyaluronic acid (HA) is an important component of the extracellular matrix which regulates cells functions and cell–cell communication. Hyaluronic acid/derivatives have been used in regenerative periodontal therapy, but the cellular effects of HA are still unknown. To investigate the effects of HA on cementoblast functions, cell viability, migration, mineralization, differentiation, and mineralized tissue‐associated genes and cementoblast‐specific markers of the cementoblasts were tested.Materials and MethodsCementoblasts (OCCM‐30) were treated with various dilutions (0, 1:2, 1:4, 1:8, 1:16, 1:32, 1:64, 1:128) of HA and examined for cell viability, migration, mineralization, and gene expressions. The mRNA expressions of osteocalcin (OCN), runt‐related transcription factor 2 (Runx2), bone sialoprotein (BSP), collagen type I (COL‐I), alkaline phosphatase (ALP), cementum protein‐1 (CEMP‐1), cementum attachment protein (CAP), and small mothers against decapentaplegic (Smad) ‐1, 2, 3, 6, 7, β‐catenin (Ctnnb1) were performed with real‐time polymerase chain reaction (RT‐PCR). Total RNA was isolated on days 3 and 8, and cell viability was determined using MTT assay on days 1 and 3. The cell mineralization was evaluated by von Kossa staining on day 8. Cell migration was assessed 2, 4, 6, and 24 hours following exposure to HA dilutions using an in vitro wound healing assay (0, 1:2, 1:4, 1:8).ResultsAt dilution of 1:2 to 1:128, HA importantly increased cell viability (p < .01). HA at a dilution of 1/2 increased wound healing rates after 4 h compared to the other dilutions and the untreated control group. Increased numbers of mineralized nodules were determined at dilutions of 1:2, 1:4, and 1:8 compared with control group. mRNA expressions of mineralized tissue marker including COL‐I, BSP, RunX2, ALP, and OCN significantly improved by HA treatments compared with control group both on 3 days and on 8 days (p < .01). Smad 2, Smad 3, Smad 7, and β‐catenin (Ctnnb1) mRNAs were up‐regulated, while Smad1 and Smad 6 were not affected by HA administration. Additionally, HA at dilutions of 1:2, 1:4, and 1:8 remarkably enhanced CEMP‐1 and CAP expressions in a dilution‐ and time‐dependent manner (p < .01).ConclusionsThe present results have demonstrated that HA affected the expression of both mineralized tissue markers and cementoblast‐specific genes. Positive effects of HA on the cementoblast functions demonstrated that HA application may play a key role in cementum regeneration.
Challenging subjective excessive daytime sleepiness as an insomnia symptom: a retrospective study
Authors: Fasiello Elisabetta , Mombelli Samantha , Sforza Marco , Zucconi Marco , Casoni Francesca , Chadia Konstantina , Castronovo Vincenza , Steiropoulos Paschalis , De Gennaro Luigi , Ferini‐Strambi Luigi , Galbiati Andrea 
Published: December 2023

SummaryDiagnostic manuals describe insomnia disorder (ID) characterised by fatigue and sleepiness as diurnal consequences of nocturnal symptoms. However, patients with ID do not frequently report sleepiness in the clinical setting. The present study aimed to investigate subjective sleepiness in ID measured through the Epworth Sleepiness Scale (ESS) and its independence towards daytime functioning and fatigue, and to evaluate cognitive behavioural therapy for insomnia (CBT‐I) improvement in daytime consequences and their relationship to sleepiness and fatigue. We retrospectively collected the ESS evaluation in a large sample of 105 healthy controls (HCs), 671 patients with ID, and 602 patients with sleep disorders characterised by excessive daytime sleepiness (EDS). Moreover, we conducted a pre–post evaluation of the ESS in a sub‐sample of patients with ID who underwent CBT‐I. Component 2 of the Insomnia Severity Index and Profile of Mood States–Fatigue Inertia Scale was used to evaluate daytime functioning and fatigue. Patients with ID reported ESS levels comparable to that observed in HCs and significantly lower than the EDS group. No significant correlation arose between ESS and the diurnal impact of the disorder, suggesting the independence between daytime functioning and sleepiness in ID. Contrarily, insomnia severity and diurnal impact significantly correlated with fatigue. Data showed a statistically significant increase in sleepiness after CBT‐I, despite significantly improving daytime consequences and fatigue. Although diagnostic manuals report sleepiness and fatigue as daytime consequences of sleep symptoms in patients with ID, these retrospective data indicate a dissociation between these entities. This evidence aligns with the core feature of ID: the hyperarousal status that pervades patients also during wakefulness.