bluuebunny/crossref_metadata_2025_split huggingface dataset:
RNA-seq analysis-based study on the effects of gestational diabetes mellitus on macrosomia
Authors: Gao Qianqian , Xu Guanying , Wang Guijie , Wang Wei , Zhu Chao , Shi Yang , Guo Changzhuang , Cong Jing , Ming Hongxia , Su Dongmei , Ma Xu 
Published: April 2024

BackgroundBoth the mother and the infant are negatively impacted by macrosomia. Macrosomia is three times as common in hyperglycemic mothers as in normal mothers. This study sought to determine why hyperglycemic mothers experienced higher macrosomia. Methods: Hematoxylin and Eosin staining was used to detect the placental structure of normal mother(NN), mothers who gave birth to macrosomia(NM), and mothers who gave birth to macrosomia and had hyperglycemia (DM). The gene expressions of different groups were detected by RNA-seq. The differentially expressed genes (DEGs) were screened with DESeq2 R software and verified by qRT-PCR. The STRING database was used to build protein-protein interaction networks of DEGs. The Cytoscape was used to screen the Hub genes of the different group.ResultsThe NN group’s placental weight differed significantly from that of the other groups. The structure of NN group’s placenta is different from that of the other group, too. 614 and 3207 DEGs of NM and DM, respectively, were examined in comparison to the NN group. Additionally, 394 DEGs of DM were examined in comparison to NM. qRT-PCR verified the results of RNA-seq. Nucleolar stress appears to be an important factor in macrosomia, according on the results of KEGG and GO analyses. The results revealed 74 overlapped DEGs that acted as links between hyperglycemia and macrosomia, and 10 of these, known as Hub genes, were key players in this process. Additionally, this analysis believes that due of their close connections, non-overlapping Hubs shouldn’t be discounted.ConclusionIn diabetic mother, ten Hub genes (RPL36, RPS29, RPL8 and so on) are key factors in the increased macrosomia in hyperglycemia. Hyperglycemia and macrosomia are linked by 74 overlapping DEGs. Additionally, this approach contends that non-overlapping Hubs shouldn’t be ignored because of their tight relationships.
Autoimmune diseases and their genetic link to bronchiectasis: insights from a genetic correlation and Mendelian randomization study
Authors: Su Yue , Zhang Youqian , Chai Yanhua , Xu Jinfu 
Published: April 2024

BackgroundPrevious studies have demonstrated that autoimmune diseases are closely associated with bronchiectasis (BE). However, the causal effects between autoimmune diseases and BE remain elusive.MethodsAll summary-level data were obtained from large-scale Genome-Wide Association Studies (GWAS). The univariate Mendelian randomization (UVMR) was utilized to investigate the genetic causal correlation (rg) of 12 autoimmune diseases and bronchiectasis, The Multivariable Mendelian Randomization (MVMR) method was used to explore the effects of the confounding factors. Further investigation was conducted to identify potential intermediate factors using mediation analysis. Finally, the linkage disequilibrium score regression (LDSC) method was used to identify genetic correlations among complex traits. A series of sensitivity analyses was performed to validate the robustness of the results.ResultsThe LDSC analysis revealed significant genetic correlations between BE and Crohn’s disease (CD) (rg = 0.220, P = 0.037), rheumatoid arthritis (RA) (rg = 0.210, P = 0.021), and ulcerative colitis (UC) (rg = 0.247, P = 0.023). However, no genetic correlation was found with other autoimmune diseases (P &gt; 0.05). The results of the primary IVW analysis suggested that for every SD increase in RA, there was a 10.3% increase in the incidence of BE (odds ratio [OR] = 1.103, 95% confidence interval [CI] 1.055-1.154, P = 1.75×10-5, FDR = 5.25×10-5). Furthermore, for every standard deviation (SD) increase in celiac disease (CeD), the incidence of BE reduced by 5.1% (OR = 0.949, 95% CI 0.902-0.999, P = 0.044, FDR = 0.044). We also observed suggestive evidence corresponding to a 3% increase in BE incidence with T1DM (OR = 1.033, 95% CI 1.001-1.066, P = 0.042, FDR = 0.063). Furthermore, MVMR analysis showed that RA was an independent risk factor for BE, whereas mediator MR analysis did not identify any mediating factors. The sensitivity analyses corroborated the robustness of these findings.ConclusionLDSC analysis revealed significant genetic correlations between several autoimmune diseases and BE, and further MVMR analysis showed that RA is an independent risk factor for BE.
Interferon alpha promotes caspase-8 dependent ultraviolet light-mediated keratinocyte apoptosis via interferon regulatory factor 1
Authors: Loftus Shannon N. , Gharaee-Kermani Mehrnaz , Xu Bin , Moore Tyson M. , Hannoudi Andrew , Mallbris Mischa J. , Klein Benjamin , Gudjonsson Johann E. , Kahlenberg J. Michelle 
Published: April 2024

IntroductionUltraviolet (UV) light is a known trigger of both cutaneous and systemic disease manifestations in lupus patients. Lupus skin has elevated expression of type I interferons (IFNs) that promote increased keratinocyte (KC) death after UV exposure. The mechanisms by which KC cell death is increased by type I IFNs are unknown.MethodsHere, we examine the specific cell death pathways that are activated in KCs by type I IFN priming and UVB exposure using a variety of pharmacological and genetic approaches. Mice that overexpress Ifnk in the epidermis were exposed to UVB light and cell death was measured. RNA-sequencing from IFN-treated KCs was analyzed to identify candidate genes for further analysis that could drive enhanced cell death responses after UVB exposure.ResultsWe identify enhanced activation of caspase-8 dependent apoptosis, but not other cell death pathways, in type I IFN and UVB-exposed KCs. In vivo, overexpression of epidermal Ifnk resulted in increased apoptosis in murine skin after UVB treatment. This increase in KC apoptosis was not dependent on known death ligands but rather dependent on type I IFN-upregulation of interferon regulatory factor 1 (IRF1).DiscussionThese data suggest that enhanced sensitivity to UV light exhibited by lupus patients results from type I IFN priming of KCs that drives IRF1 expression resulting in caspase-8 activation and increased apoptosis after minimal exposures to UVB.
Improvement of thermostability and catalytic efficiency of xylanase from Myceliophthora thermophilar by N-terminal and C-terminal truncation
Authors: Yang Yue , Zhang Chengnan , Lu Hongyun , Wu QiuHua , Wu Yanfang , Li Weiwei , Li Xiuting 
Published: April 2024

IntroductionExtracting xylanase from thermophilic filamentous fungi is a feasible way to obtain xylanase with good thermal stability.MethodsThe transcriptomic data of Myceliophthora thermophilic destructive ATCC42464 were differentially expressed and enriched. By comparing the sequences of Mtxylan2 and more than 10 xylanases, the N-terminal and C-terminal of Mtxylan2 were truncated, and three mutants 28N, 28C and 28NC were constructed.Results and discussionGH11 xylan Mtxylan2 was identified by transcriptomic analysis, the specific enzyme activity of Mtxylan2 was 104.67 U/mg, and the optimal temperature was 65°C. Molecular modification of Mtxylan2 showed that the catalytic activity of the mutants was enhanced. Among them, the catalytic activity of 28C was increased by 9.3 times, the optimal temperature was increased by 5°C, and the residual enzyme activity remained above 80% after 30 min at 50–65°C, indicating that redundant C-terminal truncation can improve the thermal stability and catalytic performance of GH11 xylanase.
The increased effective connectivity from left middle occipital gyrus to right medial septum/diagonal bands in AD patients after donepezil intervention
Authors: Yang Ting , Wei Fuquan , Guo Yufei , Zhu Mengxiao , Hou Hongtao , Guo Zhongwei , Liu Xiaozheng 
Published: April 2024

IntroductionDonepezil enhances the function of cholinergic nerves by increasing the concentration of acetylcholine, thereby improving clinical symptoms in patients with Alzheimer’s disease (AD). However, the neural mechanisms of how donepezil modulates the effective connectivity (EC) network of cholinergic system in AD patients remain unknown. We speculated that the effective network of the cholinergic system changes in AD patients after donepezil intervention.MethodsWe employed resting-state functional magnetic resonance imaging and Granger causality analysis approach to explore changes in the effective connectivity network of the basal forebrain in AD patients before and after donepezil intervention. This study included 32 participants, including 16 healthy controls (HCs) and 16 AD patients. In a 3T MRI scanner, the 16 AD patients were scanned before and after the donepezil intervention. To compare EC differences between the three groups of participants, ANOVA and post-hoc t-tests analysis were employed.ResultsCompared to baseline status, AD patients after donepezil intervention had an increased EC from left middle occipital gyrus to right medial septum/diagonal bands. Compared to HCs, AD patients after donepezil intervention had an increased EC from right inferior frontal gyrus/orbit part to right medial septum/diagonal bands, AD patients before donepezil intervention had a reduced EC from right precuneus to right medial septum/diagonal bands. A significant positive correlation was found between EC values in right precuneus and Mini-Mental State Examination in pre-intervention AD patients (r = 0.7338, p = 0.0012).DiscussionOur study showed that effective connectivity of brain regions associated with the default mode network in the cholinergic pathway was enhanced after donepezil intervention. The results of this study will help us to better understand the neural mechanisms of donepezil intervention in AD and to find clinical targets for intervention.
A proof of concept: digital diary using 24-hour monitoring using wearable device for patients with Parkinson’s disease in nursing homes
Authors: Kamo Hikaru , Oyama Genko , Yamasaki Yui , Nagayama Tomohiro , Nawashiro Ryotatsu , Hattori Nobutaka 
Published: April 2024

IntroductionIn the advanced stages of Parkinson’s disease (PD), motor complications such as wearing-off and dyskinesia are problematic and vary daily. These symptoms need to be monitored precisely to provide adequate care for patients with advanced PD.MethodsThis study used wearable devices to explore biomarkers for motor complications by measuring multiple biomarkers in patients with PD residing in facilities and combining them with lifestyle and clinical assessments. Data on the pulse rate and activity index (metabolic equivalents) were collected from 12 patients over 30 days.ResultsThe pulse rate and activity index during the off- and on-periods and dyskinesia were analyzed for two participants; the pulse rate and activity index did not show any particular trend in each participant; however, the pulse rate/activity index was significantly greater in the off-state compared to that in the dyskinesia and on-states, and this index in the dyskinesia state was significantly greater than that in the on-state in both participants.ConclusionThese results suggest the pulse rate and activity index combination would be a useful indicator of wearing-off and dyskinesia and that biometric information from wearable devices may function as a digital diary. Accumulating more cases and collecting additional data are necessary to verify our findings.
Color discrimination in fixed saturation level of patients with acute traumatic injury
Authors: Nicolau da Costa Leonardo R. , Sousa Joyce B. , Brito Felipe André C. , Igarashi Yuzo , Gomes Janildes Maria Silva , Lobão Carlos Augusto , Costa Marcelo Fernandes , Miquilini Leticia , Souza Givago Silva 
Published: April 2024

IntroductionTraumatic brain injury (TBI) is an important public health concern and that may lead to severe neural sequels, such as color vision deficits.MethodsWe evaluated the color vision of 10 TBI patients with normal cognitive function using a color discrimination test in a fixed saturation level. We also analyzed computerized tomography scans to identify the local of the brain damages.ResultsFour TBI patients that had lesions in brain areas of the ventral visual streams, five TBI patients had lesions inferred in brain areas of the dorsal visual stream, and one TBI patient had lesion in the occipital area. All the patients had cognitive and color vision screened and they had characterized the chromatic discrimination at high and low saturation. All participants had no significant cognitive impairment in the moment of the color vision test. Additionally, they had perfect performance for discrimination of chromatic stimulus at high saturation and similar to controls (n = 37 age-matched participants). Three of four TBI patients with lesions in the ventral brain and one patient with lesion in the occipital area had impairment of the chromatic discrimination at low saturation. All TBI patients with lesions in the dorsal brain had performance similar or slightly worse than the controls.ConclusionChromatic discrimination at low saturation was associated to visual damage in the ventral region of the brain and is a potential tool for functional evaluation of brain damage in TBI patients.
A prospective observational study comparing outcomes application of low-frequency pulse electrical combined with target-oriented rehabilitation therapy in postoperative nerve function rehabilitation of patients with distal humeral fracture and radial nerve injury
Authors: Shi Shaoyan , Ou Xuehai , Du Xiaolong 
Published: April 2024

ObjectiveThe aim of the present study was to compare the effect of low-frequency pulse electrical stimulation combined with target-oriented rehabilitation therapy and single low-frequency pulse electrical stimulation therapy on postoperative neurological improvement in patients with radial nerve injury and humeral condylar fracture.MethodsA total of 88 patients with humeral condyle fracture and radial nerve injury admitted to our hospital from April 2019 to January 2022 were randomly divided into a combined group and a control group, with 44 patients in each group. The patients in the combined group received low-frequency pulse electrical stimulation combined with target-oriented rehabilitation therapy, while those in the control group received low-frequency pulse electrical stimulation therapy. The recovery rate of radial nerve function, the recovery of finger extensor and wrist extensor muscle strength, and the occurrence of postoperative complications were evaluated in all patients.ResultsAfter treatment, the recovery rate in the combined group (77.27%) was higher than that in the control group (50.00%) (p &lt; 0.05). There was no significant difference in finger extensor and wrist extensor muscle strength before treatment between the two groups (p &gt; 0.05). After treatment, both groups showed improvement compared to before treatment (p &lt; 0.05), and the recovery in the combined group was better than that in the control group (p &lt; 0.05). There was no significant difference in MCV and amplitude before treatment between the two groups (p &gt; 0.05). After treatment, both groups showed improvement compared to before treatment (p &lt; 0.05), and the recovery in the combined group was better than that in the control group (p &lt; 0.05). The fracture healing time in the combined group was shorter than that in the control group (p &lt; 0.05). During the treatment period, there was one case of infection and one case of joint pain in the combined group, with a complication rate of 4.55%. In the control group, there was one case of infection and two cases of joint pain, with a complication rate of 6.82%. There was no significant difference in the complication rate between the two groups (p &gt; 0.05). The DHI score in the combined group was better than that in the control group (p &lt; 0.05). The ESCA score in the combined group was better than that in the control group (p &lt; 0.05).ConclusionLow-frequency pulse electrical stimulation combined with target-oriented rehabilitation therapy can promote muscle strength and functional recovery after radial nerve injury, accelerate fracture healing time, and no additional risk of complications.Clinical trial registrationhttps://www.researchregistry.com/, researchregistry9461.
Decoding visual fatigue in a visual search task selectively manipulated via myopia-correcting lenses
Authors: Ryu Hyeongsuk , Ju Uijong , Wallraven Christian 
Published: April 2024

IntroductionVisual fatigue resulting from sustained, high-workload visual activities can significantly impact task performance and general wellbeing. So far, however, little is known about the underlying brain networks of visual fatigue. This study aimed to identify such potential networks using a unique paradigm involving myopia-correcting lenses known to directly modulate subjectively-perceived fatigue levels.MethodsA sample of N = 31 myopia participants [right eye-SE: –3.77D (SD: 2.46); left eye-SE: –3.75D (SD: 2.45)] performed a demanding visual search task with varying difficulty levels, both with and without the lenses, while undergoing fMRI scanning. There were a total of 20 trials, after each of which participants rated the perceived difficulty and their subjective visual fatigue level. We used representational similarity analysis to decode brain regions associated with fatigue and difficulty, analyzing their individual and joint decoding pattern.Results and discussionBehavioral results showed correlations between fatigue and difficulty ratings and above all a significant reduction in fatigue levels when wearing the lenses. Imaging results implicated the cuneus, lingual gyrus, middle occipital gyrus (MOG), and declive for joint fatigue and difficulty decoding. Parts of the lingual gyrus were able to selectively decode perceived difficulty. Importantly, a broader network of visual and higher-level association areas showed exclusive decodability of fatigue (culmen, middle temporal gyrus (MTG), parahippocampal gyrus, precentral gyrus, and precuneus). Our findings enhance our understanding of processing within the context of visual search, attention, and mental workload and for the first time demonstrate that it is possible to decode subjectively-perceived visual fatigue during a challenging task from imaging data. Furthermore, the study underscores the potential of myopia-correcting lenses in investigating and modulating fatigue.
Construction and validation of a nomogram for predicting overall survival of patients with stage III/IV early−onset colorectal cancer
Authors: Yin Wanbin , Pei Wenju , Yu Tao , Zhang Qi , Zhang Shiyao , Zhang Maorun , Liu Gang 
Published: April 2024

PurposeThis study aimed to identify prognostic factors and develop a nomogram for predicting overall survival (OS) in stage III/IV early-onset colorectal cancer (EO-CRC).MethodsStage III/IV EO-CRC patients were identified from the Surveillance, Epidemiology, and End Results (SEER) database between 2010 and 2015. The datasets were randomly divided (2:1) into training and validation sets. A nomogram predicting OS was developed based on the prognostic factors identified by Cox regression analysis in the training cohort. Moreover, the predictive performance of the nomogram was assessed using the receiver operating characteristic (ROC) curves, calibration plots, and decision curve analysis (DCA). Subsequently, the internal validation was performed using the validation cohort. Finally, a risk stratification system was established based on the constructed nomogram.ResultsOf the 10,387 patients diagnosed with stage III/IV EO-CRC between 2010 and 2015 in the SEER database, 8,130 patients were included. In the training cohort (n=3,071), sex, marital status, race/ethnicity, primary site, histologic subtypes, grade, T stage, and N stage were identified as independent prognostic variables for OS. The 1-, 3-, and 5-year area under the curve (AUC) values of the nomogram were robust in both the training (0.751, 0.739, and 0.723) and validation cohorts (0.748, 0.733, and 0.720). ROC, calibration plots, and DCA indicated good predictive performance of the nomogram in both the training and validation sets. Furthermore, patients were categorized into low-, middle-, and high-risk groups based on the nomogram risk score. Kaplan-Meier curve showed significant survival differences between the three groups.ConclusionWe developed a prognostic nomogram and risk stratification system for stage III/IV EO-CRC, which may facilitate clinical decision-making and individual prognosis prediction.
Comparison of robot-assisted single-port-plus-one pyeloplasty vs. laparoscopic single-port pyeloplasty in the treatment of ureteropelvic junction obstruction in children
Authors: Li Jun , Chen Jingyi , Jia Jinfu , He Shaohua , Xu Di 
Published: April 2024

ObjectiveTo compare the efficacy of robot-assisted single-port-plus-one pyeloplasty (RSPY) and laparoscopic single-port pyeloplasty (LSPY) in the treatment of children with ureteropelvic junction obstruction (UPJO).MethodsThe clinical data of 47 children who underwent surgery for UPJO at the Department of the Pediatric Surgery of the Fujian Provincial Hospital from October 2020 to September 2022 were analyzed retrospectively. Of these 47 children, 27 received RSPY while 20 underwent LSPY. The baseline data, operation time, intraoperative anastomosis time, intraoperative blood loss, postoperative hospital stay, complications, total cost, preoperative and postoperative renal parenchymal thickness (PT), anteroposterior renal pelvis diameter (APD), and differential renal function (DRF) of the two groups were compared to evaluate the clinical efficacy of the two surgical methods.ResultsThe results showed that both surgical techniques were successful and no patient transitioned to open surgery. There was no significant difference between the two groups in baseline data, intraoperative blood loss, complications, APD, and PT 6 months after surgery. There was also no significant difference in APD, PT, and DRF 12 months after surgery (all P &gt; 0.05). Compared with the LSPY group, the RSPY group had shorter operation time [(153.04 ± 14.44) vs. (189.90 ± 32.59) min, t = −5.24, P &lt; 0.05], less intraoperative anastomosis time [(68.81 ± 16.80) vs. (97.45 ± 11.99) min, t = −6.49, P &lt; 0.05], shorter postoperative hospital stay [(5.96 ± 1.34) vs. (9.00 ± 1.33) d, t = −7.68, P &lt; 0.05], but higher total cost [(57,390 ± 7,664) vs. (30,183 ± 4,219) yuan, t = 14.32, P &lt; 0.05].ConclusionCompared with LSPY, RSPY achieves equivalent efficacy in the treatment of UPJO in children and has certain advantages by shortening the operation time, intraoperative anastomosis time, and postoperative hospital stay. However, its cost burden is heavy, and appropriate cases need to be selected for popularization and application.
Case Report: Perianal infection in children caused by ingested jujube pits: a report of two cases
Authors: Jiang Guoping , Wu Lixu , Ruan Weiwei , Shao Qian , Zhu JianMing 
Published: April 2024

BackgroundThe ingestion of jujube pits by children is a rare cause of perianal infection.This article aimed to report two cases of perianal infection in children resulting from the ingestion of jujube pits.MethodsWe reviewed the clinical records of perianal infection caused by jujube pits at our hospital. Details of the patients’ presentation, imaging studies, complications and treatment were recorded.ResultsBoth pediatric patients presented with perianal swelling and pain. The caregivers of both patients denied a history of jujube consumption. Magnetic resonance imaging (MRI) indicated the presence of jujube pits, which were subsequently removed during surgery. Postoperatively, both patients recovered well, and follow-up showed no recurrence or the formation of anal fistulas.ConclusionThe ingestion of jujube pits leading to perianal infection is rare and inconspicuous. Early diagnosis and treatment are beneficial in preventing the occurrence of serious complications.