bluuebunny/crossref_metadata_2025_split huggingface dataset:
Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency
Authors: Wongkittichote Parith , Cuddapah Sanmati R. , Master Stephen R. , Grange Dorothy K. , Dietzen Dennis , Roper Stephen M. , Ganetzky Rebecca D. 
Published: August 2023

AbstractDihydrolipoamide dehydrogenase (DLD; E3) oxidizes lipoic acid. Restoring the oxidized state allows lipoic acid to act as a necessary electron sink for the four mitochondrial keto‐acid dehydrogenases: pyruvate dehydrogenase, alpha‐ketoglutarate dehydrogenase, branched‐chain α‐keto‐acid dehydrogenase, and 2‐oxoadipate dehydrogenase. DLD deficiency (DLDD) is caused by biallelic pathogenic variants in DLD. Three major forms have been described: encephalopathic, hepatic, and myopathic, although DLDD patients exhibit overlapping phenotypes. Hyperlactatemia, hyperexcretion of tricarboxylic acid cycle (TCA) metabolites and branched‐chain keto acids, increased plasma branched‐chain amino acids and allo‐isoleucine are intermittent metabolic abnormalities reported in patients with DLDD. However, the diagnostic performance of these metabolites has never been studied. Therefore, we sought to systematically evaluate the diagnostic utility of these biomarkers for DLDD. We retrospectively analyzed the results of biochemical testing of six unrelated DLDD patients, including values obtained during both well visits and acute decompensation episodes. Elevation of branched‐chain amino acid concentrations was not consistently observed. We found that five of six patients in our cohort had a maximum lifetime value of allo‐isoleucine of 6 μmol/L, showing that alloisoleucine elevations even during illness may be subtle. Urine organic acid analysis (UOA) during acute decompensation episodes was abnormal in all cases; however, the pattern of abnormalities had high intersubject variability. No single biomarker was universally present, even in patients experiencing metabolic decompensation. We also observed novel biochemical associations: three patients had hyperexcretion of TCA cycle metabolites during crisis; in two patients, 2‐ketoadipic and 2‐hydroxyadipic acids, by products of lysine degradation, were detected. We propose that these result from 2‐oxoadipate dehydrogenase deficiency, an underappreciated biochemical abnormality in DLD. Given the diversity of biochemical profiles among the patients with DLDD, we conclude that accurate biochemical diagnosis relies on a high index of suspicion and multipronged biochemical analysis, including both plasma amino acid and urine organic acid quantitation during decompensation. Biochemical diagnosis during the well state is challenging. We emphasize the critical importance of multiple simultaneous biochemical tests for diagnosis and monitoring of DLDD. We also highlight the under‐recognized role of DLD in the lysine degradation pathway. Larger cohorts of patients are needed to establish a correlation between the biochemical pattern and clinical outcomes, as well as a genotype–phenotype correlation.
Effectiveness of prolonged versus standard‐course of oseltamivir in critically ill patients with severe influenza infection: A multicentre cohort study
Authors: Moreno Gerard , Carbonell Raquel , Díaz Emili , Martín‐Loeches Ignacio , Restrepo Marcos I. , Reyes Luis F. , Solé‐Violán Jordi , Bodí María , Canadell Laura , Guardiola Juan , Trefler Sandra , Vidaur Loreto , Papiol Elisabeth , Socias Lorenzo , Correig Eudald , Marín‐Corral Judith , Rodríguez Alejandro ,   the GETGAG Working Group
Published: August 2023

AbstractThe aim of this study is to investigate the effectiveness of prolonged versus standard course oseltamivir treatment among critically ill patients with severe influenza. A retrospective study of a prospectively collected database including adults with influenza infection admitted to 184 intensive care units (ICUs) in Spain from 2009 to 2018. Prolonged oseltamivir was defined if patients received the treatment beyond 5 days, whereas the standard‐course group received oseltamivir for 5 days. The primary outcome was all‐cause ICU mortality. Propensity score matching (PSM) was constructed, and the outcome was investigated through Cox regression and RCSs. Two thousand three hundred and ninety‐seven subjects were included, of whom 1943 (81.1%) received prolonged oseltamivir and 454 (18.9%) received standard treatment. An optimal full matching algorithm was performed by matching 2171 patients, 1750 treated in the prolonged oseltamivir group and 421 controls in the standard oseltamivir group. After PSM, 387 (22.1%) patients in the prolonged oseltamivir and 119 (28.3%) patients in the standard group died (p = 0.009). After adjusting confounding factors, prolonged oseltamivir significantly reduced ICU mortality (odds ratio [OR]: 0.53, 95% confidence interval [CI]: 0.40–0.69). Prolonged oseltamivir may have protective effects on survival at Day 10 compared with a standard treatment course. Sensitivity analysis confirmed these findings. Compared with standard treatment, prolonged oseltamivir was associated with reduced ICU mortality in critically ill patients with severe influenza. Clinicians should consider extending the oseltamivir treatment duration to 10 days, particularly in higher‐risk groups of prolonged viral shedding. Further randomized controlled trials are warranted to confirm these findings.
Comparison of images obtained using four dermoscope imaging devices: An observational study
Authors: Togawa Yaei , Yamamoto Yosuke , Matsue Hiroyuki 
Published: August 2023

AbstractBackgroundIn clinical practice, the quality of images may vary depending on the imaging device, and the focus of the dermoscope is on the superficial layer of the lesion. Therefore, it is desirable to have a dermoscopy device that can easily focus on any lesion and clearly show the findings.ObjectivesWe conducted a clinical study to compare dermoscopic images of the same skin tumours obtained using a prototype dermoscopy camera, DZ‐D100 (DD, Casio Computer Co., Ltd.), and three existing dermoscopy imaging devices (Derma9500S®‐GR or DG, Derma Medical Inc.; DELTA 20® T or DT, HEINE Optotechnik; and DermLite Foto II Pro® or DF, DermLite LLC).MethodsDermoscopic images of 117 skin tumours from 94 patients who visited Chiba University Hospital were evaluated by two experts in terms of the focus, and the clarity and presence or absence (the primary endpoint) of seven findings (pigmented lines, shiny white lines, dots/globules, blue‐grey structures, vascular structures, milia‐like cysts and comedo‐like openings).ResultsNo significant differences in the number of cases with each of the seven findings (pigmented lines, shiny white lines, dots/globules, blue‐grey structures, vascular structures, milia‐like cysts and comedo‐like openings) among the four groups were observed. The clarity of focus was significantly better with the DD than with the other three devices (all, p < 0.05). Pigmented lines were significantly clearer with the DD than with the DF and DT (all, p < 0.05). A strong correlation was found between the focus and clarity of pigmented lines/globules, blue‐grey structures and vascular structures (all, p < 0.005).ConclusionsDD was less affected by elevated lesions and was considered to be the easiest to focus and recognize brown to black lines and dots/globules. The well‐focused captured images are also expected to be applied to diagnosis by artificial intelligence.
Murine Pro‐Inflammatory Responses to Acute and Sustained Intermittent Hypoxia: Implications for Obstructive Sleep Apnea Research
Authors: Koritala Bala S. C. , Gaspar Laetitia S. , Bhadri Shweta S. , Massie Kyla S. , Lee Yin Yeng , Paulose Jiffin , Smith David F. 
Published: August 2023

ObjectivesObstructive sleep apnea (OSA) is characterized by chronic systemic inflammation; however, the mechanisms underlying these pathologic consequences are incompletely understood. Our objective was to determine the effects of short‐ versus long‐term exposure to intermittent hypoxia (IH) on pro‐inflammatory mediators within vulnerable organs impacted by OSA.Study DesignExperimental animal study.MethodsA total of 8–10 week old C57BL/6J mice were exposed to normoxic or IH conditions for 7 days (short‐term) or 6 weeks (long‐term) under 12 h light, 12 h dark cycles. After exposure, multiple tissues were collected over a 24 h period. These tissues were processed and evaluated for gene expression and protein levels of pro‐inflammatory mediators from peripheral tissues.ResultsWe observed a global decrease in immune response pathways in the heart, lung, and liver compared with other peripheral organs after short‐term exposure to IH. Although there were tissue‐specific alterations in the gene expression of pro‐inflammatory mediators, with down‐regulation in the lung and up‐regulation in the heart, we also observed reduced protein levels of pro‐inflammatory mediators in the serum, lung, and heart following short‐term exposure to IH. Long‐term exposure to IH resulted in an overall increase in the levels of inflammatory mediators in the serum, lung, and heart.ConclusionsWe demonstrated novel, longitudinal changes in the inflammatory cascade in a mouse model of OSA. The duration of exposure to IH led to significant variability of inflammatory responses within blood and cardiopulmonary tissues. Our findings further elucidate how inflammatory responses change over the course of the disease in vulnerable organs.Level of EvidenceNA Laryngoscope, 134:S1–S11, 2024
Bisimulations and bisimulation games between Verbrugge models
Authors: Horvat Sebastijan , Perkov Tin , Vuković Mladen 
Published: August 2023

AbstractInterpretability logic is a modal formalization of relative interpretability between first‐order arithmetical theories. Verbrugge semantics is a generalization of Veltman semantics, the basic semantics for interpretability logic. Bisimulation is the basic equivalence between models for modal logic. We study various notions of bisimulation between Verbrugge models and develop a new one, which we call w‐bisimulation. We show that the new notion, while keeping the basic property that bisimilarity implies modal equivalence, is weak enough to allow the converse to hold in the finitary case. To do this, we develop and use an appropriate notion of bisimulation games between Verbrugge models.
Spectral heat content on a class of fractal sets for subordinate killed Brownian motions
Authors: Park Hyunchul , Xiao Yimin 
Published: August 2023

AbstractWe study the spectral heat content for a class of open sets with fractal boundaries determined by similitudes in , , with respect to subordinate killed Brownian motions via ‐stable subordinators and establish the asymptotic behavior of the spectral heat content as for the full range of . Our main theorems show that these asymptotic behaviors depend on whether the sequence of logarithms of the coefficients of the similitudes is arithmetic when , where is the interior Minkowski dimension of the boundary of the open set. The main tools for proving the theorems are the previous results on the spectral heat content for Brownian motions and the renewal theorem.
Some motivic properties of Gushel–Mukai sixfolds
Authors: Bolognesi Michele , Laterveer Robert 
Published: August 2023

AbstractGushel–Mukai (GM) sixfolds are an important class of so‐called Fano‐K3 varieties. In this paper, we show that they admit a multiplicative Chow–Künneth decomposition modulo algebraic equivalence and that they have the Franchetta property. As side results, we show that double Eisenbud‐Popescu‐Walter (EPW) sextics and cubes have the Franchetta property, modulo algebraic equivalence, and some vanishing results for the Chow ring of GM sixfolds.
Managing mass customization products with modular design for recycling in a closed‐loop supply chain
Authors: Jiang Lan 
Published: August 2023

AbstractInvesting in the modular architecture design for mass customization (MC) products cannot only enable product variety, thereby improving MC ability to cope with consumer individual needs, but also increase the product interchangeability, thereby reducing the recycling and remanufacturing costs. This paper considers a closed‐loop supply chain (CLSC) with MC, in which the manufacturer sells the new, modular MC products via the retailer and also actively recycles the used ones for remanufacturing. We study the optimal modularity level for new MC products and the best recycling channel for used MC products in a CLSC. One centralized and two decentralized recycling decision models are formulated, and then the equilibrium solutions among proposed models are compared and analyzed. The government subsidy and channel leadership are further discussed in extension. Different from the traditional view that outsourcing the recycling activity to retailer is best because of its proximity to consumers, our results suggest that the manufacturer directly recycling used MC products can be optimal in terms of modularity level, recycling rate, supply chain profits, total social surplus, and decision‐making speed.
Genome‐Wide Meta‐Analysis of Cerebrospinal Fluid Biomarkers in Alzheimer's Disease and Parkinson's Disease Cohorts
Authors: Ta Michael , Blauwendraat Cornelis , Antar Tarek , Leonard Hampton L. , Singleton Andrew B. , Nalls Mike A. , Iwaki Hirotaka ,   Alzheimer's Disease Neuroimaging Initiative (ADNI); and the Fox Investigation for New Discovery of Biomarkers
Published: August 2023

AbstractBackgroundAmyloid‐β, phosphorylated tau (p‐tau), and total tau (t‐tau) in cerebrospinal fluid are established biomarkers for Alzheimer's disease (AD). In other neurodegenerative diseases, such as Parkinson's disease (PD), these biomarkers have also been found to be altered, and the molecular mechanisms responsible for these alterations are still under investigation. Moreover, the interplay between these mechanisms and the diverse underlying disease states remains to be elucidated.ObjectiveTo investigate genetic contributions to the AD biomarkers and assess the commonality and heterogeneity of the associations per underlying disease status.MethodsWe conducted genome‐wide association studies (GWASs) for the AD biomarkers on subjects from the Parkinson's Progression Markers Initiative, the Fox Investigation for New Discovery of Biomarkers, and the Alzheimer's Disease Neuroimaging Initiative, and meta‐analyzed with the largest AD GWAS. We tested heterogeneity of associations of interest between different disease statuses (AD, PD, and control).ResultsWe observed three GWAS signals: the APOE locus for amyloid‐β, the 3q28 locus between GEMC1 and OSTN for p‐tau and t‐tau, and the 7p22 locus (top hit: rs60871478, an intronic variant for DNAAF5, also known as HEATR2) for p‐tau. The 7p22 locus is novel and colocalized with the brain DNAAF5 expression. Although no heterogeneity from underlying disease status was observed for the earlier GWAS signals, some disease risk loci suggested disease‐specific associations with these biomarkers.ConclusionsOur study identified a novel association at the intronic region of DNAAF5 associated with increased levels of p‐tau across all diseases. We also observed some disease‐specific genetic associations with these biomarkers. Published 2023. This article is a U.S. Government work and is in the public domain in the USA.
Focused Ultrasound Thalamotomy for Tremor in Parkinson's Disease: Outcomes in a Large, Prospective Cohort
Authors: Chua Melissa M.J. , Blitz Sarah E. , Ng Patrick R. , Segar David J. , McDannold Nathan J. , White P. Jason , Christie Sarah , Hayes Michael T. , Rolston John D. , Cosgrove G. Rees 
Published: August 2023

AbstractBackgroundMagnetic resonance guided focused ultrasound (MRgFUS) is United States Food and Drug Administration approved for the treatment of tremor‐dominant Parkinson's disease (TdPD), but only limited studies have been described in practice.ObjectivesTo report the largest prospective experience of unilateral MRgFUS thalamotomy for the treatment of medically refractory TdPD.MethodsClinical outcomes of 48 patients with medically refractory TdPD who underwent MRgFUS thalamotomy were evaluated. Tremor outcomes were assessed using the Fahn‐Tolosa‐Marin scale and adverse effects were categorized using a structured questionnaire and clinical exam at 1 month (n = 44), 3 months (n = 34), 1 year (n = 22), 2 years (n = 5), and 3 years (n = 2). Patients underwent magnetic resonance imaging <24 hours post‐procedure.ResultsSignificant tremor control persisted at all follow‐ups (P < 0.001). All side effects were mild. At 3 months, these included gait imbalance (38.24%), sensory deficits (26.47%), motor weakness (17.65%), dysgeusia (5.88%), and dysarthria (5.88%), with some persisting at 1 year.ConclusionsMRgFUS thalamotomy is an effective treatment for sustained tremor control in patients with TdPD. © 2023 International Parkinson and Movement Disorder Society.
Education Liaison improves implementation of school accommodations for students with sickle cell disease
Authors: McGlynn Mary Claire , Gilliam Aisha , Pierson Suzanne K. , Hulbert Monica L. 
Published: August 2023

AbstractBackgroundChildren with sickle cell disease (SCD) have lower academic attainment than healthy peers. Many benefit from neuropsychological testing (NPT) and educational accommodations, including Individualized Education Programs (IEPs) and Section 504 plans (504s). Despite medical barriers to academic attainment, many children with SCD do not receive indicated NPT or accommodations.ObjectiveWe hypothesize that a dedicated Education Liaison (EL) embedded in the SCD team increases implementation of NPT and accommodations.Study designThis retrospective study included children aged 5–20 years with SCD receiving care at a single center from 2017 through 2020. Univariate analysis and multiple logistic regression were performed.ResultsTotal 316 children with SCD were included. At baseline, 52.8% had accommodations (IEP: 24.4%, 504: 38.0%). The EL interacted with 62.0% of children. Children with EL contact were more likely to undergo NPT (odds ratio [OR]: 5.385), have an IEP (OR: 4.580), and have a 504 (OR: 2.038) (p < .001 for all). At the end of the study period, 64.6% had accommodations (IEP: 33.5%, 504: 54.4%), which increased from baseline (p < .001 for all). EL interaction was associated with overt or silent stroke history (OR: 1.911), acute chest syndrome history (OR: 2.257), hospitalizations since age 5 (OR: 3.216), and hospitalization for vaso‐occlusive pain since age 5 (OR: 2.226) (p < .001 for all).ConclusionEL interaction improves access to NPT and educational accommodations among children with SCD. SCD centers should incorporate ELs in comprehensive care teams to improve access to appropriate educational accommodations.
Improvement in Monterey pine of the flame retardancy, thermal conductivity, and mechanical performance through incorporating functional epoxy resin
Authors: Yang Yuxin , Leng Yang , Wang Ruiping , Xu Miaojun , Sun Yue , Li Bin 
Published: August 2023

AbstractMonterey pine is a renewable biomass resources with structural and chemical characteristics, but is limited by its flammability, poor mechanical properties, and subpar thermal conductivity (TC). Herein, a thermal conductive and flame retardant the multifunction epoxy resin (MEP) prepolymer was injected into the Monterey pine and subsequently cured. The results showed that impregnated MEP Monterey pine, maintained its original cellular structure under applied loads compared to pristine Monterey pine, thus, giving the composite wood better mechanical integrity than its neat counterpart, which served as thermally conductive pathways within the composites. The TC was measured to be 0.12 Wm−1 K−1 for pristine Monterey pine. Whereas, the infiltrated MEP/wood composite yielded a TC of 0.94 Wm−1 K−1 which correlates to a 683.3% enhancement. Besides, the tensile strength of the prepared composites in the longitudinal and radial directions were observed to be 75.0 and 21.7 MPa, and increased by 63.4% and 152.3% compared to that of pristine Monterey pine, respectively. Combustion tests revealed that the Monterey pine/MEP composites self‐extinguished after ignition and departing from the flame source while the pristine Monterey pine did not. It was deduced that the TC, fire retardancy, and mechanical performance of Monterey pine were simultaneously improved by injecting the multifunctional epoxy resin prepolymer, which provide a wide application potential in heat dissipation furniture field.Highlights
The multifunction epoxy enhanced the multiple performance of Monterey pine.
The wood composite yielded a high thermal conductivity.
Monterey pine/MEP composites managed to self‐extinguish after ignition.
Solid particle erosion and scratch behavior of novel scrap carbon fiber/glass fabric/polyamide 6.6 hybrid composites
Authors: Kocoglu Hurol , Korkusuz Orkan Baran , Ozzaim Pelin , Kodal Mehmet , Altan M. Cengiz , Sinmazcelik Tamer , Ozcelik Babur , Ozkoc Guralp 
Published: August 2023

AbstractThis study investigated the tribological performance of hybrid composites composed of scrap carbon fiber (CF), glass fabric (GF), and polyamide 6.6 (PA6.6) through an innovative approach for reusing scrap CFs in high‐value composite structures. The experimental setup included CF/GF/PA6.6 hybrid composite laminates with varying CF contents and surface‐modified GFs, as well as PA6.6 sheets and GF/PA6.6 composite laminates. Solid particle erosion and scratch tests were conducted to assess the influence of scrap CF hybridization and GF surface modification on the tribological properties of the composites. The results demonstrated that neat PA6.6 sheets exhibited the lowest erosion rate, while the incorporation of CF and GF reinforcements had a detrimental effect on erosion resistance. The highest erosion rate was observed within the impact angle range of 15°–30° for pure PA6.6 sheets, whereas for composite laminates, it occurred within the range of 30°–45°. In contrast, CFs positively affected scratch hardness despite their negative impact on erosion resistance. Additionally, the silane treatment of GFs, which enhanced interfacial strength, improved the erosion resistance and scratch hardness of GF/PA6.6 composite laminates without CF. Profilometer‐based topographic analysis revealed a correlation between the average surface roughness of the eroded surfaces and the weight loss resulting from solid particle erosion.