bluuebunny/crossref_metadata_2025_split huggingface dataset:
Case report: Expanding the understanding of the adult polyglucosan body disease continuum: novel presentations, diagnostic pitfalls, and clinical pearls
Authors: Gayed Matthew M. , Sgobbi Paulo , Pinto Wladimir Bocca Viera De Rezende , Kishnani Priya S. , Koch Rebecca L. 
Published: December 2023

Introduction: Adult polyglucosan body disease (APBD) has long been regarded as the adult-onset form of glycogen storage disease type IV (GSD IV) and is caused by biallelic pathogenic variants in GBE1. Advances in the understanding of the natural history of APBD published in recent years have led to the use of discrete descriptors (“typical” versus “atypical”) based on adherence to traditional symptomatology and homozygosity for the p.Y329S variant. Although these general descriptors are helpful in summarizing common findings and symptoms in APBD, they are inherently limited and may affect disease recognition in diverse populations.Methods: This case series includes three American patients (cases 1–3) and four Brazilian patients (cases 4–7) diagnosed with APBD. Patient-reported outcome (PRO) measures were employed to evaluate pain, fatigue, and quality of life in cases 1–3.Results: We describe the clinical course and diagnostic odyssey of seven cases of APBD that challenge the utility and efficacy of discrete descriptors. Cases 1–3 are compound heterozygotes that harbor the previously identified deep intronic variant in GBE1 and presented with “typical” APBD phenotypically, despite lacking two copies of the pathogenic p.Y329S variant. Patient-reported outcome measures in these three cases revealed the moderate levels of pain and fatigue as well as an impacted quality of life. Cases 4–7 have unique genotypic profiles and emphasize the growing recognition of presentations of APBD in diverse populations with broad neurological manifestations.Conclusion: Collectively, these cases underscore the understanding of APBD as a spectrum disorder existing on the GSD IV phenotypic continuum. We draw attention to the pitfalls of commonly used genetic testing methods when diagnosing APBD and highlight the utility of patient-reported outcome questionnaires in managing this disease.
Preparation and enhanced electrorheological properties of elastomers filled with rod-shaped TiO2 particles
Authors: Ti Gang , Fan Yi , Tang Jian , Niu Chenguang , Xiong Xiaoyan 
Published: December 2023

The morphology of dispersed particles has been proven to have a significant impact on performance of electrorheological (ER) materials, while there is a lack of relevant research on its impact on the properties of electrorheological elastomers (EREs). In this study, the TiO2 particles with spherical, short rod, and long rod shape were fabricated with sol-gel method, and the EREs were prepared with these three kinds of particles as dispersion phase. Particle characterization results show that the rod-shape TiO2 particles with larger average size exhibit a combination of anatase and brookite phase. The viscoelastic properties of three types of EREs under varying strain amplitude and shear frequency were tested. The results indicate that the long rod-shape TiO2 particles filled EREs shows higher storage modulus G′ and higher relative ER effect within the electric field from 0 to 3 kV/mm. The observations indicate the use of rod-shape TiO2 particles in the form of brookite phase may help enhance the ER properties of elastomers. The investigation contributes to the designing, preparation, and application of anisotropic ERE.
Development and validation of a three-dimensional deep learning-based system for assessing bowel preparation on colonoscopy video
Authors: Feng Lina , Xu Jiaxin , Ji Xuantao , Chen Liping , Xing Shuai , Liu Bo , Han Jian , Zhao Kai , Li Junqi , Xia Suhong , Guan Jialun , Yan Chenyu , Tong Qiaoyun , Long Hui , Zhang Juanli , Chen Ruihong , Tian Dean , Luo Xiaoping , Xiao Fang , Liao Jiazhi 
Published: December 2023

BackgroundThe performance of existing image-based training models in evaluating bowel preparation on colonoscopy videos was relatively low, and only a few models used external data to prove their generalization. Therefore, this study attempted to develop a more precise and stable AI system for assessing bowel preparation of colonoscopy video.MethodsWe proposed a system named ViENDO to assess the bowel preparation quality, including two CNNs. First, Information-Net was used to identify and filter out colonoscopy video frames unsuitable for Boston bowel preparation scale (BBPS) scoring. Second, BBPS-Net was trained and tested with 5,566 suitable short video clips through three-dimensional (3D) convolutional neural network (CNN) technology to detect BBPS-based insufficient bowel preparation. Then, ViENDO was applied to complete withdrawal colonoscopy videos from multiple centers to predict BBPS segment scores in clinical settings. We also conducted a human-machine contest to compare its performance with endoscopists.ResultsIn video clips, BBPS-Net for determining inadequate bowel preparation generated an area under the curve of up to 0.98 and accuracy of 95.2%. When applied to full-length withdrawal colonoscopy videos, ViENDO assessed bowel cleanliness with an accuracy of 93.8% in the internal test set and 91.7% in the external dataset. The human-machine contest demonstrated that the accuracy of ViENDO was slightly superior compared to most endoscopists, though no statistical significance was found.ConclusionThe 3D-CNN-based AI model showed good performance in evaluating full-length bowel preparation on colonoscopy video. It has the potential as a substitute for endoscopists to provide BBPS-based assessments during daily clinical practice.
Gut microbiota functional profiling in autism spectrum disorders: bacterial VOCs and related metabolic pathways acting as disease biomarkers and predictors
Authors: Vernocchi Pamela , Marangelo Chiara , Guerrera Silvia , Del Chierico Federica , Guarrasi Valerio , Gardini Simone , Conte Federica , Paci Paola , Ianiro Gianluca , Gasbarrini Antonio , Vicari Stefano , Putignani Lorenza 
Published: December 2023

BackgroundAutism spectrum disorder (ASD) is a multifactorial neurodevelopmental disorder. Major interplays between the gastrointestinal (GI) tract and the central nervous system (CNS) seem to be driven by gut microbiota (GM). Herein, we provide a GM functional characterization, based on GM metabolomics, mapping of bacterial biochemical pathways, and anamnestic, clinical, and nutritional patient metadata.MethodsFecal samples collected from children with ASD and neurotypical children were analyzed by gas-chromatography mass spectrometry coupled with solid phase microextraction (GC–MS/SPME) to determine volatile organic compounds (VOCs) associated with the metataxonomic approach by 16S rRNA gene sequencing. Multivariate and univariate statistical analyses assessed differential VOC profiles and relationships with ASD anamnestic and clinical features for biomarker discovery. Multiple web-based and machine learning (ML) models identified metabolic predictors of disease and network analyses correlated GM ecological and metabolic patterns.ResultsThe GM core volatilome for all ASD patients was characterized by a high concentration of 1-pentanol, 1-butanol, phenyl ethyl alcohol; benzeneacetaldehyde, octadecanal, tetradecanal; methyl isobutyl ketone, 2-hexanone, acetone; acetic, propanoic, 3-methyl-butanoic and 2-methyl-propanoic acids; indole and skatole; and o-cymene. Patients were stratified based on age, GI symptoms, and ASD severity symptoms. Disease risk prediction allowed us to associate butanoic acid with subjects older than 5 years, indole with the absence of GI symptoms and low disease severity, propanoic acid with the ASD risk group, and p-cymene with ASD symptoms, all based on the predictive CBCL-EXT scale. The HistGradientBoostingClassifier model classified ASD patients vs. CTRLs by an accuracy of 89%, based on methyl isobutyl ketone, benzeneacetaldehyde, phenyl ethyl alcohol, ethanol, butanoic acid, octadecane, acetic acid, skatole, and tetradecanal features. LogisticRegression models corroborated methyl isobutyl ketone, benzeneacetaldehyde, phenyl ethyl alcohol, skatole, and acetic acid as ASD predictors.ConclusionOur results will aid the development of advanced clinical decision support systems (CDSSs), assisted by ML models, for advanced ASD-personalized medicine, based on omics data integrated into electronic health/medical records. Furthermore, new ASD screening strategies based on GM-related predictors could be used to improve ASD risk assessment by uncovering novel ASD onset and risk predictors.
Effect of best practice advisory on the administration of contraindicated medications to hospitalized patients with Parkinson’s disease and related disorders
Authors: Chunga Natalia , Amodeo Katherine , Braun Melanie , Valdovinos Blanca Y. , Richard Irene H. 
Published: December 2023

ObjectiveTo determine the effect of a Best Practice Advisory (BPA) on the ordering and administration of contraindicated dopamine blocking agents (DBA) to hospitalized patients with Parkinson’s disease (PD) and related disorders.BackgroundPatients with PD are more likely to require hospitalization and are at increased risk of complications. Administration of contraindicated DBA contributes to worsened outcomes in this patient population. Electronic medical record (EMR) warnings (also referred to as BPA) have been proposed as a way to prevent the administration of contraindicated medications.MethodsA BPA was launched in January 2020 within the University of Rochester EMR system, which alerts the provider when a contraindicated DBA is ordered in hospitalized patients with PD and related disorders. Patients with PD and related disorders hospitalized at two hospitals affiliated to the University of Rochester during a time period before (t1: 1/1/2019–1/1/2020) and after (t2: 1/8/2020–1/8/2021) the implementation of the BPA were included in this study. Epic SliderDicer was used to collect the data from the University of Rochester EMR. The number of patients who had contraindicated DBA orders and administrations in both time periods, and the number of patients who had the BPA triggered during t2 were obtained. We compared the results before and after the implementation of the BPA.Results306 patients with PD and related disorders were hospitalized during t1 and 273 during t2. There was significantly less percentage of patients who had contraindicated DBA orders (41.5% in t1 vs. 17.6% in t2) and patients who had contraindicated DBA administrations (16% in t1 vs. 8.8% in t2) during t2 (p &lt; 0.05 for both comparisons). There was no significant difference between the percentage of patients who had contraindicated DBA orders in t1 and patients with attempted orders (BPA triggered) in t2 (p = 0.27).ConclusionThe results of this study increase the evidence of the potential benefit of EMR warnings for the optimization of inpatient medication management in patients with PD and related disorders. In particular, our results suggest that EMR warnings help reduce the administration of contraindicated medications, which is a known contributing factor for hospital complications in this patient population.
Impact of statin use on breast cancer recurrence and mortality before and after diagnosis: a systematic review and meta-analysis
Authors: Jia Xiaolin , Lu Ye , Xu Zili , Mu Qingqing 
Published: December 2023

ObjectiveBreast cancer is one of the most common causes of death among women. Statins, typically used for cholesterol management, have been hypothesized to reduce recurrence and mortality rates in breast cancer. However, this association remains a subject of debate. This study evaluates the potential impact of statins on breast cancer recurrence and mortality.MethodsA comprehensive search was conducted in the PubMed, EMBASE, and Cochrane databases for articles published up to June 2023. These articles examined the effect of statins on breast cancer recurrence and mortality both before and after diagnosis. The analysis was performed using random-effects models, calculating pooled hazard ratios (HR) and their 95% confidence intervals (CI).ResultsA total of 31 cohort studies, involving 261,834 female breast cancer patients, were included in this analysis. It was found that statin use prior to diagnosis was associated with a decrease in overall mortality (HR, 0.8; 95% CI, 0.69–0.93; I2 = 77.6%; P = 0.001) and breast cancer-specific mortality (HR, 0.76; 95% CI, 0.67–0.87; I2 = 72.7%; P = 0.005). Additionally, statin use after diagnosis was observed to reduce the recurrence of breast cancer (HR, 0.71; 95% CI, 0.61–0.82; I2 = 60%; P = 0.003), overall mortality (HR, 0.81; 95% CI, 0.70–0.92; I2 = 80.7%; P &lt; 0.001), and breast cancer-specific mortality (HR, 0.76; 95% CI, 0.67–0.86; I2 = 74.5%; P &lt; 0.001).ConclusionsThe findings of this study indicate that statin usage, both before and after breast cancer diagnosis, may be associated with reduced risks of overall and breast cancer-specific mortality, as well as lower recurrence rates.
Safety and feasibility of laparoscopic radical resection for bismuth types III and IV hilar cholangiocarcinoma: a single-center experience from China
Authors: Wang Jianjun , Xia Yang , Cao Yuan , Zeng Xintao , Luo Hua , Cai Xianfu , Shi Mingsong , Luo Huiwen , Wang Decai 
Published: December 2023

BackgroundSurgery represents the only cure for hilar cholangiocarcinoma (HC). However, laparoscopic radical resection remains technically challenging owing to the complex anatomy and reconstruction required during surgery. Therefore, reports on laparoscopic surgery (LS) for HC, especially for types III and IV, are limited. This study aimed to evaluate the safety and feasibility of laparoscopic radical surgery for Bismuth types III and IV HC.MethodsThe data of 16 patients who underwent LS and 9 who underwent open surgery (OS) for Bismuth types III and IV HC at Mianyang Central Hospital, School of Medicine, University of Electronic Science and Technology of China, between December 2017 and January 2022 were analyzed. Basic patient information, Bismuth–Corlette type, AJCC staging, postoperative complications, pathological findings, and follow-up results were evaluated.ResultsSixteen patients underwent LS and 9 underwent OS for HC. According to the preoperative imaging data, there were four cases of Bismuth type IIIa, eight of type IIIb, and four of type IV in the LS group and two of type IIIa, four of type IIIb, and three of type IV in the OS group (P&gt;0.05). There were no significant differences in age, sex, ASA score, comorbidity, preoperative percutaneous transhepatic biliary drainage rate, history of abdominal surgery, or preoperative laboratory tests between the two groups (P&gt;0.05). Although the mean operative time and mean intraoperative blood loss were higher in the LS group than in OS group, the differences were not statistically significant (P=0.121 and P=0.115, respectively). Four patients (25%) in the LS group and two (22.2%) in the OS group experienced postoperative complications (P&gt;0.05). No significant differences were observed in other surgical outcomes and pathologic findings between the two groups. Regarding the tumor recurrence rate, there was no difference between the groups (P&gt;0.05) during the follow-up period (23.9 ± 13.3 months vs. 17.8 ± 12.3 months, P=0.240).ConclusionLaparoscopic radical resection of Bismuth types III and IV HC remains challenging, and extremely delicate surgical skills are required when performing extended hemihepatectomy followed by complex bilioenteric reconstructions. However, this procedure is generally safe and feasible for hepatobiliary surgeons with extensive laparoscopy experience.
Mechanical asymmetries remain low-to-moderate during 30 min of self-paced treadmill running
Authors: Mtibaa Khouloud , Zarrouk Nidhal , Ryu Joong Hyun , Racinais Sébastien , Girard Olivier 
Published: December 2023

Introduction: We characterized the magnitude and range of gait asymmetry during self-paced treadmill running.Methods: On an instrumented treadmill, twelve trained runners (11 males, 1 female) completed a 30-min self-paced run, during which participants were instructed to cover the most distance possible. Ground reaction force recordings at a constant velocity corresponding to 70% of their maximal aerobic velocity (13.3 ± 0.8 km.h−1) allowed for the measurement of running kinetics and kinematics, as well as the calculation of spring-mass characteristics at the beginning, middle, and end of the run (minutes 1, 14, and 29, respectively). Group mean asymmetry scores were assessed using the “symmetry angle” (SA) formulae, where scores of 0% and 100% represent perfect symmetry and perfect asymmetry, respectively.Results: There was no time effect on SA scores for any of the 13 biomechanical variables (p ≥ 0.128). Mean SA scores were &lt;2.5% for contact time (0.8% ± 0.7%), flight time (1.4% ± 0.6%), step frequency (0.7% ± 0.3%), duty factor (0.7% ± 0.3%), duration of braking (1.3% ± 0.7%) and push-off phases (0.9% ± 0.8%), as well as peak braking (2.3% ± 1.3%) and push-off forces (1.4% ± 0.9%). Mean SA scores were ≥2.5% for peak vertical loading rate (3.1% ± 1.7%), mean vertical loading rate (3.4% ± 2.1%), peak vertical forces (2.9% ± 2.2%), as well as vertical stiffness (5.2% ± 3.5%) and leg stiffness (2.5% ± 1.5%).Conclusion: Throughout a 30-min running time trial, there were consistently low-to-moderate mechanical asymmetries for spatiotemporal variables, kinetics, and spring-mass model characteristics. This suggests that trained runners maintained relatively even strides during the self-paced treadmill run, with lower extremities behaving similarly when controlling for velocity.
Tailored lighting intervention (TLI) for improving sleep-wake cycles in older adults living with dementia
Authors: Figueiro Mariana G. , Pedler David , Plitnick Barbara , Zecena Erick , Leahy Sophie 
Published: December 2023

Introduction: Sleep disturbance is a hallmark of Alzheimer’s disease and related dementias, and caregiver stress caused by patients’ nighttime wandering, injuries, and agitation are frequently at the root of decisions to move them to assisted living facilities, where typically dim institutional lighting can further exacerbate their sleep problems. This study explored the effects of a circadian-effective lighting intervention on actigraphic sleep measures and subjective assessments of sleep disturbance, depression, and sleep-disturbed behaviors.Methods: Fourteen older adult (≥60 years) participants (11 females, mean age = 84.1 [SD 8.9]), all diagnosed with moderate to severe dementia and sleep disturbance, were recruited from 3 assisted living and memory care facilities. Following a crossover, placebo-controlled design, 3 different lighting modes were used to deliver high levels of circadian stimulus to the participants’ eyes for two 8-week intervention periods in a counter balanced order with a 4-week washout between the study’s 2 conditions (dim light control vs. active intervention). Actigraphy and questionnaire data were collected over 7-day assessment periods that preceded (baseline weeks 1 and 9) and concluded (post-intervention week 9 and 22) the intervention periods. Actigraphic outcomes included sleep duration, sleep time, sleep efficiency, sleep start time, and sleep end time. Subjective assessments included the Cornell Scale for Depression in Dementia (CSDD), Pittsburgh Sleep Quality Index (PSQI), and Sleep Disorders Inventory (SDI) instruments.Results: Under the active condition, sleep duration significantly (p = 0.018) increased and sleep start time significantly (p = 0.012) advanced after the intervention compared to baseline. Also under the active condition, PSQI (p = 0.012), CSDD (p = 0.007), Sleep Disorders Inventory frequency (p = 0.015), and SDI severity (p = 0.015) scores were significantly lower after the intervention compared to baseline.Discussion: This study demonstrates that a circadian-effective lighting intervention delivering bright days and dark nights improves measures of sleep and mood in dementia patients living in controlled environments.
Prediction of tannin content and quality parameters in astringent persimmons from visible and near-infrared spectroscopy
Authors: Baek Min Woo , Choi Han Ryul , Hwang In Geun , Tilahun Shimeles , Jeong Cheon Soon 
Published: December 2023

IntroductionTannin content and postharvest quality characteristics of persimmon fruit are often determined by the destructive analysis that consumes time, does not allow the acquisition of data from the same fruit continuously, and requires expensive high-performance equipment. This research was done to investigate the potential for non-destructive estimation of astringency and quality parameters in persimmon fruit based on visible/near-infrared (VNIR) spectra.MethodsVNIR spectra readings, the reference tannin content, and quality parameters were measured from fruits of “Cheongdo-Bansi” and “Daebong” persimmon cultivars at harvest and throughout the ripening/deastringency period. The spectra readings from half of the total fruit were utilized for the calibration set, while the other half readings were used for the prediction set. To develop models correlating the spectra data to the measured reference parameters data, the partial least square regression (PLSR) method was utilized.Results and discussionIn the case of ‘Daebong’, the coefficients of determination (R2) between VNIR spectra and the actual measured values of TSS, firmness, simple sugars, and tannin content were (0.95, 0.94, 0.96, and 0.96) and (0.93, 0.89, 0.96, and 0.93), for the calibration and prediction sets, respectively. Similarly, the R2-values of (0.86, 0.93, 0.79, and 0.81) and (0.83, 0.91, 0.75, and 0.75) were recorded in ‘Cheongdo-Bansi’ for the calibration and prediction sets, respectively. Additionally, the acquired data were divided into two sets in a 3:1 ratio to develop predictive models and to validate the models in multiple regressions. PLSR models were developed in multiple regression to estimate the tannin content of both cultivars from firmness and simple sugars with R2-values of 0.83 and 0.79 in ‘Cheongdo-Bansi’ for the calibration and prediction sets, respectively, whereas, R2-values of 0.80 and 0.84 were recorded in ‘Daebong’ for the calibration and prediction sets, respectively. The overall findings of this study showed the possibility of using VNIR spectra for the prediction of postharvest quality and tannin contents from intact persimmon fruit with quick, chemical-free, and low-cost assessment methods. Also, the multiple regression using physicochemical parameters could fairly predict the tannin content in persimmon fruit though destructively but save time and low-cost.