bluuebunny/crossref_metadata_2025_split huggingface dataset:
Retinal microvasculature observations of fellow eyes after intra-arterial chemotherapy for unilateral retinoblastoma using optical coherence tomography angiography
Authors: Chen Yijing , Mao Jianbo , Xiang Ziyi , Zhang Zhengxi , Zhang Shian , Wu Sulan , Shen Lijun 
Published: January 2023

PurposeTo investigate the characteristics of the retinal microvasculature of the fellow eyes in patients with unilateral retinoblastoma (RB) after intra-arterial chemotherapy (IAC) through optical coherence tomography angiography.MethodsThis retrospective study enrolled 11 fellow eyes of patients with unilateral RB receiving IAC (group I), nine fellow eyes of patients with unilateral RB receiving IAC and intravenous chemotherapy (IVC) (group II), and 14 age-matched normal eyes (control group). Optical coherence tomography angiography was performed on all individuals. Vascular density of superficial capillary plexus and deep capillary plexus (DCP), foveal avascular zone related parameters, and retinal thickness were measured and compared among the three groups.ResultsThere was no statistical difference in age and logMAR visual acuity among the three groups. Compared with the control group, the vascular density of the DCP was lower in group I and II. Decreased vascular density of FD-300 and thinner thickness of outer plexus layer to Bruch’s membrane were detected in group II compared with the control group. The vascular density and retinal thickness showed no differences between group I and II.ConclusionThe decreased vascular density in the DCP without measurable visual impairment was observed in fellow eyes after IAC or IAC + IVC for unilateral RB. Further studies with a larger sample would be necessary to determine the clinical significance of these findings.
Case report: Two heterozygous pathogenic variants of CYP24A1: A novel cause of hypercalcemia and nephrocalcinosis in adulthood
Authors: Brunerova Ludmila , Remes Ondrej , Zoubkova Veronika , Votypka Pavel 
Published: January 2023

Background and aimsVitamin D 24-hydroxylase is an enzyme encoded by the CYP24A1 gene, which inhibits the activation of vitamin D to form inactive metabolites. More than 20 currently described pathogenic variants (usually biallelic) of this gene are responsible for idiopathic infantile hypercalcemia manifested typically in childhood (often in newborns) with hypercalcemia, hypercalciuria, and nephrocalcinosis. However, a few patients (mostly with monoallelic heterozygous pathogenic variants) can develop mild symptoms in adulthood.Case descriptionWe present the case of a 43-year-old male patient with hypertension and heterozygous Leiden mutation, with mural thrombi in the common iliac artery, who was sent by a nephrologist to endocrinological examination due to hypoparathyroidism, progressive hypercalcemia, hypercalciuria, and CKDG2A1. Complete laboratory and imaging methods (including PET-CT) excluded PTH-related peptide-mediated hypercalcemia and granulomatosis. Finally, the genetic analysis of the CYP24A1 gene revealed the presence of a novel combination of two heterozygous pathogenic variants: CYP24A1: c. 443T&gt;C p.(Leu148Pro) and c.1186C&gt;T p.(Arg396Trp).ConclusionDifferential diagnosis of patients with hypercalciuria, nephrocalcinosis, and hypercalcemia related to vitamin D exposure should include the CYP24A1 gene mutation. To the best of our knowledge, this is the first case of the novel combination of two heterozygous pathogenic variants of CYP24A1.
Baduanjin improves neck pain and functional movement in middle-aged and elderly people: A systematic review and meta-analysis of randomized controlled trials
Authors: Liu Zicai , Hu Hao , Wen Xin , Liu Xuejin , Xu Xiaqing , Wang Zhenjiang , Li Li , Liu Huiyu 
Published: January 2023

BackgroundNeck pain (NP), one of the most common musculoskeletal diseases, exercises a great influence on the daily life of individuals, especially the elderly. Baduanjin is a traditional Qigong therapy from China, but there is no evidence for its use in the treatment of neck pain in middle-aged and elderly people.ObjectiveWe hope to summarize the efficacy evidence of Baduanjin in the treatment of middle-aged and elderly patients with neck pain (NP) for the first time, conduct a systematic review and meta-analysis, and provide basic evidence-based evidence for clinical practice.MethodsTwo researchers collectively searched PubMed, Web of Science, Embase, Cochrane Library, China Biology Medicine disk (Sino-Med), China National Knowledge Infrastructure (CNKI), Wanfang database, and China Science and Technology Journal Database (VIP). The search time is set from initial to 27 September 2022, to find out RCT articles that may meet the criteria. The risk bias assessment tool Cochrane was applied to assess the methodological quality of involved studies. RevMan 5.3 was used for the meta-analysis with a mean difference (MD) and 95% confidence interval (CI), and the model type was a random effects model. The VAS scores of the intervention and control groups were extracted and the results of the meta-analysis were presented using a forest plot.ResultsIn total, 13 randomized controlled trials were meta-analyzed, including 840 patients. The results turned out that the VAS score in the intervention group was below the control group, which was statistically significant [MD = −1.15, 95% CI (−1.39, −0.92) and P &lt; 0. 001]. The result of general efficiency suggests that the Baduanjin group was better than the control group [RR = 1.19, 95% CI (1.10, 1.29), P &lt; 0.001].ConclusionThe existing results seem to show that Baduanjin is safe and has a trend of positive benefits in the treatment of neck pain in middle-aged and elderly people. However, considering the limitations of this study, we need to be cautious in our conclusions, and more studies are needed to verify it in future.
Determination of the ability of matrix-assisted laser desorption ionization time-of-flight mass spectrometry to identify high-biofilm-producing strains
Authors: Rodríguez-Temporal David , Díez Rafael , Díaz-Navarro Marta , Escribano Pilar , Guinea Jesús , Muñoz Patricia , Rodríguez-Sánchez Belén , Guembe María 
Published: January 2023

BackgroundThe traditional method for assessing the capacity of a microorganism to produce biofilm is generally a static in vitro model in a multi-well plate using the crystal violet (CV) binding assay, which takes 96 h. Furthermore, while the method is simple to perform, its reproducibility is poor.ObjectiveWe evaluated whether matrix-assisted laser desorption ionization time-of-flight mass spectrometry (MALDI-TOF MS) could make it possible to differentiate between high-and low-biofilm-producing microorganisms on 24-h cultures of Staphylococcus aureus and Candida albicans.MethodsWe included 157 strains of S. aureus and 91 strains of C. albicans obtained from the blood cultures of patients with bacteremia/candidemia. We tested biofilm production using the CV binding assay as the gold standard to classify strains as low or high biofilm producers. We then applied MALDI-TOF MS to create a machine learning–based predictive model using 40 strains of S. aureus and C. albicans, each with extreme absorbance values, and validated this approach with the remaining 117 and 51 strains using the random forest algorithm and the support vector machine algorithm, respectively.ResultsOverall, 81.2% of the S. aureus strains (95/117) and 74.5% of the C. albicans strains (38/51) used for validation were correctly categorized, respectively, as low and high-biofilm-producing.ConclusionClassification based on MALDI-TOF MS protein spectra enables us to predict acceptable information about the capacity of 24-h cultures of S. aureus and C. albicans to form biofilm.
Evident lower blood levels of multiple nutritional compounds and highly prevalent malnutrition in sub-acute stroke patients with or without dysphagia
Authors: van Wijk Nick , Studer Bettina , van den Berg Claudia A. , Ripken Dina , Lansink Mirian , Siebler Mario , Schmidt-Wilcke Tobias 
Published: January 2023

IntroductionMalnutrition is prevalent after stroke, particularly if post-stroke oropharyngeal dysphagia (OD) reduces nutritional intake. To further understand stroke-related malnutrition, a thorough nutritional assessment was performed in ischemic stroke patients with or without OD during sub-acute inpatient rehabilitation.MethodsIn this exploratory, observational, cross-sectional, multi-center study in Germany (NTR6802), ischemic stroke patients with (N = 36) or without (N = 49) OD were age- and sex-matched to healthy reference subjects. Presence of (risk of) malnutrition (MNA-SF), blood concentration of stroke-relevant nutritional compounds and metabolites, nutritional intake, quality of life (EQ-5D-5L), and activities of daily living (Barthel index) were assessed.ResultsMore than half of the stroke patients displayed (risk of) malnutrition, with higher prevalence in patient with OD vs. without OD. Fasted blood concentrations of vitamins B1, B2, B6, A, D, and E, selenium, choline, coenzyme Q10, albumin, pre-albumin, transferrin, docosahexaenoic acid, and eicosapentaenoic acid were all lower in stroke patients compared to their matched healthy reference subjects, irrespective of OD status. Reported energy, macronutrient, and water intake were lower in stroke patients vs. healthy reference subjects. As expected, quality of life and activities of daily living scores were lower in stroke vs. healthy reference subjects, with OD scoring worse than non-OD patients.DiscussionThis study shows that malnutrition is highly prevalent in sub-acute stroke patients during rehabilitation. Even though patients with OD were more likely to be malnourished, blood levels of specific nutritional compounds were similarly lower in stroke patients with or without OD compared to healthy reference subjects. Furthermore, subgroup analysis showed similarly lower blood levels of specific nutritional compounds in patients that are normal nourished vs. patients with (risk of) malnutrition. This might imply disease-specific changes in blood levels on top of overall protein-energy malnutrition. The results of the current study underline that it is important to screen for nutritional impairments in every stroke patient, either with or without OD.
CSF biomarkers for early-onset Alzheimer's disease in Chinese population from PUMCH dementia cohort
Authors: Lei Dan , Mao Chenhui , Li Jie , Huang Xinying , Sha Longze , Liu Caiyan , Dong Liling , Xu Qi , Gao Jing 
Published: January 2023

IntroductionAlzheimer's disease (AD) is one of the highly concerned degenerative disorders in recent decades. Though vast amount of researches has been done in various aspects, early-onset subtype, however, needs more investigation in diagnosis for its atypical manifestations and progression process. Fundamental CSF biomarkers of early-onset AD are explored in PUMCH dementia cohort to depict its laboratory characteristics.Materials and methodsA total of 125 individuals (age of onset &lt;65 years old) from PUMCH dementia cohort were recruited consecutively and classified into AD, non-AD dementia, and control groups. Levels of amyloid-β 42 (Aβ42), total tau (t-tau) and phosphorylated tau (p-tau) were measured using ELISA INNOTEST (Fujirebio, Ghent, Belgium). Students' t-test or non-parametric test are used to evaluate the differences between groups. Area under curve (AUC) of receiver operating characteristic (ROC) curve was introduced to prove the diagnostic powers of corresponding markers. Logistic regression is used to establish diagnostic model to combine several markers together to promote the diagnostic power.ResultsThe average of all three biomarkers and two calculated ratios (t-tau/Aβ42, p-tau/Aβ42) were statistically different in the AD group compared with the other two groups (Ps &lt; 0.01). From our data, we were able to provide cutoff values (Aβ42 &lt; 570.9 pg/mL; p-tau &gt; 56.49 pg/mL; t-tau &gt; 241.6 pg/mL; t-tau/Aβ42 &gt; 0.529; p-tau/Aβ42 &gt; 0.0846) with acceptable diagnostic accuracy compared to other studies. Using a combination of biomarkers and logistic regression (area under curve 0.951), we were able to further improve diagnostic efficacy.DiscussionOur study supports the diagnostic usefulness of biomarkers and defined cutoff values to diagnose early-onset AD. We showed that the ratios of t-tau/Aβ42 and p-tau/Aβ42 are more sensitive than relying on Aβ42 levels alone, and that we can further improve diagnostic accuracy by combining biomarkers.
Clinical characteristics and prognosis of acute low-frequency hearing loss and ascending sensorineural sudden sensorineural hearing loss
Authors: Diao Tongxiang , Chen Yurun , Jing Yuanyuan , Ma Xin 
Published: January 2023

ObjectiveThe present study aimed to explore the pathogenesis of the ascending sudden sensorineural hearing (SSNHL) loss by comparing the clinical characteristics and prognosis of acute low-frequency hearing loss (ALFHL) and ascending SSNHL.MethodsA total of 43 patients with ALFHL and 122 patients with ascending SSNHL were enrolled in this study. First, the prognosis of patients with ALFHL and ascending SSNHL were compared, and the prognostic factors of AFHL and ascending SSNHL were analyzed.ResultsAcute low-frequency hearing loss and ascending SSNHL have no remarkable difference in complete recovery rate. Compared to ascending SSNHL, ALFHL has younger onset age, female prevalence, lower hearing threshold, shorter time from onset to recovery, and a lower proportion of combined tinnitus. The PTA at admission and delay from onset to therapy were significantly related to the prognosis of patients with ascending SSNHL, while only delay from onset to therapy was significantly related to the prognosis of patients with ALFHL. The majority of patients with ascending SSNHL and ALFHL recovered completely within 10 days from onset.ConclusionAudiogram shape plays a critical role in the prognosis of SSNHL. Ascending SSNHL and ALFHL may share a common pathological mechanism.
Prediction of bone metastasis in non-small cell lung cancer based on machine learning
Authors: Li Meng-Pan , Liu Wen-Cai , Sun Bo-Lin , Zhong Nan-Shan , Liu Zhi-Li , Huang Shan-Hu , Zhang Zhi-Hong , Liu Jia-Ming 
Published: January 2023

ObjectiveThe purpose of this paper was to develop a machine learning algorithm with good performance in predicting bone metastasis (BM) in non-small cell lung cancer (NSCLC) and establish a simple web predictor based on the algorithm.MethodsPatients who diagnosed with NSCLC between 2010 and 2018 in the Surveillance, Epidemiology and End Results (SEER) database were involved. To increase the extensibility of the research, data of patients who first diagnosed with NSCLC at the First Affiliated Hospital of Nanchang University between January 2007 and December 2016 were also included in this study. Independent risk factors for BM in NSCLC were screened by univariate and multivariate logistic regression. At this basis, we chose six commonly machine learning algorithms to build predictive models, including Logistic Regression (LR), Decision tree (DT), Random Forest (RF), Gradient Boosting Machine (GBM), Naive Bayes classifiers (NBC) and eXtreme gradient boosting (XGB). Then, the best model was identified to build the web-predictor for predicting BM of NSCLC patients. Finally, area under receiver operating characteristic curve (AUC), accuracy, sensitivity and specificity were used to evaluate the performance of these models.ResultsA total of 50581 NSCLC patients were included in this study, and 5087(10.06%) of them developed BM. The sex, grade, laterality, histology, T stage, N stage, and chemotherapy were independent risk factors for NSCLC. Of these six models, the machine learning model built by the XGB algorithm performed best in both internal and external data setting validation, with AUC scores of 0.808 and 0.841, respectively. Then, the XGB algorithm was used to build a web predictor of BM from NSCLC.ConclusionThis study developed a web predictor based XGB algorithm for predicting the risk of BM in NSCLC patients, which may assist doctors for clinical decision making
Multiple congenital anomalies and adverse developmental outcomes are associated with neonatal intensive care admission and unilateral hearing loss
Authors: Horrocks Lucy M. , Kitterick Pádraig T. , Jayasinghe Dulip S. , Willis Karen R. , Martin Katherine R. M. , Dixit Abhijit , Thornton Sally K. 
Published: January 2023

AimTo determine congenital and developmental outcomes of children with Unilateral Hearing Loss (UHL) who were admitted to the Neonatal Intensive Care Unit (NICU).MethodRetrospective, single-site study that followed 25 children with permanent congenital UHL and a NICU admission to a NICU of Nottingham University Hospital. Birth and two-year developmental follow-up data were collected. They were compared to matched control group who had a NICU admission but no hearing loss (matched on gestational age, weight and sex).ResultsThe median birthweights, gestational ages and number of days spent on the NICU for the UHL population were 2510 g, 36 weeks, and 12 days respectively. Most children (20/25; 80%) with UHL and a NICU admission were diagnosed with a congenital anomaly within the first two years of life. Only half (13/25) of these children were diagnosed with a congenital anomaly at discharge. Children with UHL and a NICU admission were more likely than the matched group (NICU admission only; p &lt; .001) to have multiple congenital anomalies. We found a positive association between multiple congenital anomalies and developmental impairment for the NICU graduates with UHL (p = .019). This UHL-NICU group were also more likely than the matched NICU children to have developmental impairment (7/25 vs. 0/25; p = .01), speech and language therapy (13/25 vs. 1/25; p &lt; .001), inner ear malformations (14/25 vs. 0/25, p &lt; .001) or craniofacial anomalies (12/25 vs. 2/25; p = .004).InterpretationChildren with UHL and a NICU admission were at high risk of congenital anomalies and certain adverse developmental outcomes. Improved congenital anomaly screening is needed at birth for this population. Having multiple congenital anomalies suggests closer developmental monitoring is needed. This study contributes towards producing clinical screening and management guidelines to ensure consistent high-quality care for this unique population.
Polysomnographic characteristics and treatment modalities in a referred population of children with trisomy 21
Authors: Gaza Kaelyn , Gustave Jodi , Rani Seema , Strang Abigail , Chidekel Aaron 
Published: January 2023

BackgroundChildren with Trisomy 21 (T21) are at an increased risk of sleep-disordered breathing (SDB), which can impact daily functioning and cause other health complications. Accordingly, it is imperative to diagnose and treat SDB in this population. Current guidelines recommend screening polysomnogram by age 4 or sooner if clinically indicated. There are limited published studies describing characteristics of SDB in children with T21, particularly in infants and young children.ObjectiveThe objective of this study is to characterize SDB and treatment modalities in infants and young children with T21.MethodsThis is a retrospective review of a cohort of children (≤60 months of age) with T21 who completed a polysomnogram (PSG) between 2015 and 2020 at a pediatric referral center. Demographic information, relevant medical history, polysomnography parameters, and treatment details of these children were collected from EMR. Descriptive and comparative statistics were calculated for the cohort; additional subgroup analysis was completed by age 0–35 months and 36–60 months.ResultsMost of the cohort met criteria for sleep apnea (84.1%), and airway surgery was the most common treatment modality (71.4%). The mean AHI was high (21.4 events/hour) with a trend towards hypoventilation (mean EtCO2 = 55.9 mmHg; mean percentage of TST with EtCO2 &gt; 50 mmHg 20.8%). Mean arousal index was elevated (32 events/hour). There were no significant differences in SDB by age when we compared children 0–35 months and 36–60 months.ConclusionsThis cohort of referred children with T21 showed high prevalence of SDB with a trend towards hypoventilation and disrupted sleep quality with no significant differences by age. These data highlight the importance of maintaining a high index of suspicion for SDB in young patients with T21 and obtaining PSG testing to characterize sleep and breathing.
Downregulation of ICCs and PDGFRα+ cells on colonic dysmotility in hirschsprung disease
Authors: Gu Aiming , Wu Zhihao , Wang Peng , Liu Jun , Wang Jianfeng , Wang Qianqian , Chen Jie 
Published: January 2023

BackgroundTo investigate the effect of the distribution and expression of interstitial cells of Cajal (ICCs) and platelet-derived growth factor receptor-α positive (PDGFRα+) cells in different colon segments on colonic motility in children with Hirschsprung disease (HSCR).MethodsSmooth muscles of the narrow and dilated segments of the colon were obtained from 16 pediatric patients with HSCR. The proximal margin was set as the control section. The mRNA and protein expressions of c-Kit, PDGFRα, ANO1, and SK3 channels were examined. Circular smooth muscle strips of the colon were prepared for performing electrophysiology experiments using electric field stimulation (EFS) and intervention from different drugs (TTX, NPPB, Apamin, L-NAME, and CyPPA).ResultsThe mRNA and protein expressions of c-Kit, ANO1, PDGFRα, and SK3 were much lower in the narrow segment than those in the dilated and proximal segments of the colon. The narrow segment showed a considerably spontaneous contraction of the muscle strip. After the EFS, the relaxation response decreased from the proximal to the narrow segment, whereas the contraction response increased. TTX blocking did not cause any significant changes in the narrow segment. In contrast, when NPPB, Apamin, L-NAME, and CyPPA were used to intervene in the muscle strips, the proximal segment showed a more sensitive inhibitory or excitatory response than the narrow segment.ConclusionsDownregulation of the ICCs and PDGFRα+ cells from the proximal to narrow segment may be responsible for the dysmotility of the colon in pediatric HSCR.