bluuebunny/crossref_metadata_2025_split huggingface dataset:
Case report: Variants in the ERCC4 gene as a rare cause of cerebellar ataxia with chorea
Authors: Kulikowska Joanna , Jakubiuk-Tomaszuk Anna , Rydzanicz Małgorzata , Płoski Rafał , Kochanowicz Jan , Kulakowska Alina , Kapica-Topczewska Katarzyna 
Published: February 2023

Variants in the ERCC4 gene have been described to be associated with the following autosomal recessive diseases: xeroderma pigmentosum group F (XPF), xeroderma pigmentosum type F/Cockayne syndrome (XPF/CS), Fanconi anemia complementation group Q (FANCQ), and XFE progeroid syndrome (XFEPS). In this paper, we present a case of a 53-year-old Caucasian female patient with rare variants in the ERCC4 gene. When she was 42 years old, falls and loss of balance occurred. At the age of 48, involuntary, uncoordinated movements of the upper limbs and head, tongue stereotypes (licking and extending movements), speech problems (dysarthria), memory deterioration, and hearing loss occurred. Since childhood, she has shown hypersensitivity to UV radiation. The neurological examination revealed chorea syndrome, cerebellar ataxia, dysarthria, and bilateral hearing loss. She has numerous pigmented lesions on the skin. Brain MRI demonstrated massive cortico-subcortical atrophy. The neuropsychological examination revealed dysfunctions in the executive domain in terms of attention, working memory, organizing, and planning activities. The genetic diagnostics was performed which excluded spinocerebellar ataxia types 1, 2, 3, 6, and 17, Huntington’s disease, and FMR1 premutation. In the genetic analysis of next-generation sequencing (NGS), two variants: c.2395C &gt; T and c.1349G &gt; A in the ERCC4 gene were identified in a heterozygote configuration. So far, a few cases of ERCC4 gene variants, which are associated with nucleotide excision repair pathways, have been described in connection with symptoms of cerebellar ataxia. In patients with ERCC4 biallelic variants, the adult neurological phenotype can sometimes be the first symptom and reason for access to genetic testing. The aforementioned case highlights the occurrence of rare genetic causes of progressive neurodegenerative diseases in adults, especially with the spectrum of autosomal recessive nucleotide excision repair pathway disorders (NERDs).
Low rates of headache and migraine associated with intravenous immunoglobulin infusion using a 15-minute rate escalation protocol in 123 patients with primary immunodeficiency
Authors: Geng Bob , Clark Kim , Evangelista Mark , Wolford Eric 
Published: February 2023

IntroductionHeadache and migraine adverse events are common concerns in the administration of intravenous immune globulins (IVIG). Trials of IVIG for primary immunodeficiency (PI) are typically small and have reported headache and migraine data inconsistently.MethodsWe analyzed headache and migraine in pooled data from three pivotal trials of Gammaplex® 5% and 10% in PI (NCT00278954 from January 18, 2006; NCT01289847 from January 27, 2011; NCT01963143 from September 13, 2013). The trials were pooled in a retrospective analysis that included two 12-month open-label non-comparative trials of the 5% IVIG product and one 6-month open-label crossover bioequivalence trial comparing the 5% IVIG and 10% IVIG products. The population included adult and pediatric patients, who received IVIG infusions of 300-800 mg/kg/infusion every 21 or 28 days using a 15-minute rate escalation protocol.ResultsIn total, 1482 infusions were administered to 123 patients, with 94.6% of infusions achieving the maximum infusion rate. At least one product-related headache was reported in 6.1% (90/1482) of infusions. At least one product-related migraine was reported in 0.5% (7/1482) of infusions. Headache rates were higher for adults vs pediatric patients, females vs males, and 21-day vs 28-day dosing schedules, but were similar for the 5% and 10% IVIG products. Most headaches and migraines occurred during or within 72 hours of the infusion. Rates decreased after the first few infusions.DiscussionPatients receiving this IVIG product on a 15-minute rate escalation protocol had low rates of headache and migraine for both the 5% and 10% formulations.
Cu-loaded polyurethane to reduce ureteral stent microbes adherence and regulation of the inflammation response to RAW264.7
Authors: Li Hongwei , Zhao Jing , Wang Zhenyu , Hu Jiyuan , Zhao Jinlong , Awonusi Bukola O. , Li Jianzhong , Fan Lianhui 
Published: February 2023

Introduction: Ureteral stents blocked with encrustation are a common clinical complication and affect bacteria colonization and inflammatory response. In this study, different concentrations of copper (0.25, 0.5, 1, 1.5, and 2 g/L) were immobilized on polyurethane (PU) that showed functionalization of microbe resistance and regulation of the inflammation response to RAW264.7.Methods: X-ray photoelectron spectroscopy (XPS), atomic force microscope (AFM) and static water contact angles were used to analyze the surface characterization. Proteus mirabilis resistance test and adhesion of cells by SEM were carried out to evaluate the antibacterial property of Cu-bearing samples. Cell cytotoxicity assay and apoptosis were used to obtain acceptable concentrations of PU-Cu. The morphology of cells was used to observe the occurrence of pseudopodia after contact with PU-Cu. Would healing assay and Transwell invasion assay were carried out to observe the migration and recovery of macrophages. IL-6 and IL-10 were used to evaluate the secretion of pro-/anti-inflammatory cytokines.Results: X-ray photoelectron spectroscopy (XPS), atomic force microscope (AFM), and static water contact angle measurement were used to confirm successful immobilization of Cu on PU. Plate counting assay and observation of adhered cells by SEM demonstrated that the antibacterial performance of PU-Cu against Proteus mirabilis increased with the amount of Cu loading in a dependent manner. Furthermore, the CCK-8 assay and apoptosis test suggested an acceptable cytotoxicity of PU-Cu at concentrations of 0.25, 0.5, and 1 g/L. The morphology of cells observed by SEM showed reduced occurrence of pseudopodia after contact with PU-Cu. Wound healing and transwell invasion assays manifested that migration and recovery of macrophages were improved by PU-Cu. ELISA of IL-6 and IL-10 demonstrated that PU-Cu could regulate inflammatory cytokines toward anti-inflammatory functionalization.
Skeletal standardized uptake values obtained using quantitative SPECT/CT for the detection of bone metastases in patients with lung adenocarcinoma
Authors: Lin Lin , Zheng Rong , Geng Jianhua , Wang Xuejuan , Li Meng , Fan Rong , Zheng Yiqing , Yang Ke 
Published: February 2023

PurposeTo assess the utility of skeletal standardized uptake values (SUVs) obtained using quantitative single-photon emission computed tomography/computed tomography (SPECT/CT) in differentiating bone metastases from benign lesions, particularly in patients with lung adenocarcinoma.MethodsPatients with lung adenocarcinoma who had undergone whole-body Tc-99m methyl-diphosphonate (99mTc-MDP) bone scans and received late phase SPECT/CT were retrospectively analyzed in this study. The maximum SUV (SUVmax); Hounsfield units (HUs); and volumes of osteoblastic, osteolytic, mixed, CT-negative metastatic and benign bone lesions, and normal vertebrae were compared. Receiver operating characteristic curves were used to determine the optimal cutoff SUVmax between metastatic and benign lesions as well as the cutoff SUVmax between CT-negative metastatic lesions and normal vertebrae. The linear correlation between SUVmax and HUs of metastatic lesions as well as that between SUVmax and the volume of all bone lesions were investigated.ResultsA total of 252 bone metastatic lesions, 140 benign bone lesions, and 199 normal vertebrae from 115 patients with lung adenocarcinoma were studied (48 males, 67 females, median age: 59 years). Metastatic lesions had a significantly higher SUVmax (23.85 ± 14.34) than benign lesions (9.67 ± 7.47) and normal vertebrae (6.19 ± 1.46; P &lt; 0.0001). The SPECT/CT hotspot of patients with bone metastases could be distinguished from benign lesions using a cutoff SUVmax of 11.10, with a sensitivity of 87.70% and a specificity of 80.71%. The SUVmax of osteoblastic (29.16 ± 16.63) and mixed (26.62 ± 14.97) lesions was significantly greater than that of osteolytic (15.79 ± 5.57) and CT-negative (16.51 ± 6.93) lesions (P &lt; 0.0001, P = 0.0003, and 0.002). SUVmax at the cutoff value of 8.135 could distinguish CT-negative bone metastases from normal vertebrae, with a sensitivity of 100.00% and a specificity of 91.96%. SUVmax showed a weak positive linear correlation with HUs in all bone metastases and the volume of all bone lesions.ConclusionSUVmax of quantitative SPECT/CT is a useful index for distinguishing benign bone lesions from bone metastases in patients with lung adenocarcinoma, particularly in the diagnosis of CT-negative bone metastases, but other factors that may affect SUVmax should be considered.
Advantages of long- and short-reads sequencing for the hybrid investigation of the Mycobacterium tuberculosis genome
Authors: Di Marco Federico , Spitaleri Andrea , Battaglia Simone , Batignani Virginia , Cabibbe Andrea Maurizio , Cirillo Daniela Maria 
Published: February 2023

IntroductionIn the fight to limit the global spread of antibiotic resistance, computational challenges associated with sequencing technology can impact the accuracy of downstream analysis, including drug resistance identification, transmission, and genome resolution. About 10% of Mycobacterium tuberculosis (MTB) genome is constituted by the PE/PPE family, a GC-rich repetitive genome region. Although sequencing using short read technology is widely used, it is well recognized its limit in the PE/PPE regions due to the unambiguously mapping process onto the reference genome. The aim of this study was to compare the performances of short-reads (SRS), long-reads (LRS) and hybrid-reads (HYBR) based analysis over different common investigative tasks: genome coverage estimation, variant calling and cluster analysis, drug resistance detection and de novo assembly.MethodsFor the study 13 model MTB clinical isolates were sequenced with both SRS and LRS. HYBR were produced correcting the long reads with the short reads. The fastq from the three approaches were then processed using a customized version of MTBseq for genome coverage estimation and variant calling and using two different assemblers for de novo assembly evaluation.ResultsEstimation of genome coverage performances showed lower 8X breadth coverage for SRS respect to LRS and HYBR: considering the PE/PPE genes, SRS showed low results for the PE_PGRS family, while obtained acceptable coverage in PE and PPE genes; LRS and HYBR reached optimal coverages in PE/PPE genes. For variant calling HYBR showed the highest resolution, detecting the highest percentage of uniquely identified mutations compared to LRS and SRS. All three approaches agreed on the identification of two major clusters, with HYBR identifying an higher number of SNPs between the two clusters. Comparing the quality of the assemblies, HYBR and LRS obtained better results than SRS.DiscussionIn conclusion, depending on the aim of the investigation, both SRS and LRS present complementary advantages and limitations implying that for a full resolution of MTB genomes, where all the mentioned analyses and both technologies are needed, the use of the HYBR approach represents a valid option and a well-rounded strategy.
Evolution characteristics of dynamic balance disorder over the course of PD and relationship with dopamine depletion
Authors: Gan Jing , Wu Xiaodong , Wan Ying , Zhao Jiahao , Song Lu , Wu Na , Wang Hui , Yin Yafu , Liu Zhenguo 
Published: February 2023

ObjectiveThis study aimed to assess the evolution of dynamic balance impairment during the course of Parkinson's disease (PD) and to clarify the contribution of striatal dopaminergic innervation to poor dynamic balance.MethodsIn our study, 89 patients with PD (divided into 2 groups according to the H-Y stage) and 39 controls were included. Kinematic data were recorded by a portable inertial measurement unit system. Dopaminergic loss in the striatal subregion was verified through the 11C-CFT PET examination. The severity of white matter hyperintensities (WMHs) was assessed by the Scheltens scale. The correlation between dynamic kinematic parameters and dopamine transporter availability was analyzed by multivariate regression analysis.ResultsPatients with early PD presented with imbalance featured by smaller three-dimensional trunk ROM with reduced trunk coronal angular velocity during walking and with reduced trunk sagittal angular velocity during the stand-to-sit task (all p &lt; 0.05). These abnormalities were not more severe at a later stage. The ROM in the coronal and transverse planes during walking correlated with caudate DAT uptake (β = 0.832, p = 0.006, Q = 0.030, and β = 0.890, p = 0.003, Q = 0.030) after controlling for age, gender, and WMHs. As the disease progressed, the trunk sagittal and transverse angular velocities during walking and trunk sagittal angular velocity when turning and sitting-to-standing were slower, which was accompanied by reduced gait velocity gradually (all p &lt; 0.05). These parameters related to disease progression have no association with striatal DAT uptake (all p &gt; 0.05).ConclusionThe dynamic balance in PD was impaired from the early stages, and the characteristics of the impairment changed differently as the disease progressed. Dopaminergic denervation has a lower contribution to dynamic balance disorders throughout PD.
Adaptive neural network projection analytical fault-tolerant control of underwater salvage robot with event trigger
Authors: Guo Gaoyang , Zhang Qiang , Zhang Yan , Tan Wenyi , Tao Zewen , Ma Sainan 
Published: February 2023

IntroductionTo solve the problem of control failure caused by system failure of deep-water salvage equipment under severe sea conditions, an event-triggered fault-tolerant control method (PEFC) based on proportional logarithmic projection analysis is proposed innovatively.MethodsFirst, taking the claw-type underwater salvage robot as the research object, amore universal thruster fault model was established to describe the fault state of equipment failure, interruption, stuck, and poor contact. Second, the controller was designed by the proportional logarithmic projection analytical method. The system input signal was amplified and projected as a virtual input, which replaces the original input to isolate and learn the fault factor online by the analytical algorithm. The terminal sliding mode observer was used to compensate for the external disturbance of the system, and the adaptive neural network was used to fit the dynamic uncertainty of the system. The system input was introduced into the event-triggered mechanism to reduce the output regulation frequency of the fault thruster.ResultsFinally, the simulation results showed that the method adopted in this study reduced the power output by 28.95% and the update frequency of power output by 75% compared with the traditional adaptive overdrive fault-tolerant control (AOFC) method and realized accurate pose tracking under external disturbance and system dynamic uncertain disturbance.DiscussionIt has been proven that the algorithm used in this research can still reasonably allocate power to reduce the load of a fault thruster and complete the tracking task under fault conditions.
The nomogram to predict the occurrence of sepsis-associated encephalopathy in elderly patients in the intensive care units: A retrospective cohort study
Authors: Zhao Qing , Xiao Jianguo , Liu Xiaoli , Liu Hui 
Published: February 2023

BackgroundSepsis-associated encephalopathy (SAE) is a critical and common problem in elderly patients with sepsis, which is still short of efficient predictive tools. Therefore, this study aims to screen the risk factors and establish a useful predictive nomogram for SAE in elderly patients with sepsis in the intensive care unit (ICU).Patients and methodsElderly patients (age ≥ 65 years) with sepsis were selected from the Medical Information Mart for Intensive Care (MIMIC)-IV database. Data from demographics and laboratory examinations were collected on the first day of admission to the ICU. SAE was defined by two criteria in the presence of sepsis: ① a Glasgow Coma Scale (GCS) score of &lt; 15 or ② delirium. Differences in demographics and laboratory tests were calculated between SAE and non-SAE groups. Participants were randomly divided into a training set and a validation set without replacement at a ratio of 6:4. A predictive nomogram was constructed in the training set by logistic regression analysis and then validated. The predictive capability of the nomogram was demonstrated by receiver operating characteristic (ROC) analysis and calibration curve analysis.ResultsA total of 22,361 patients were selected, of which 2,809 patients (12.7%) died in the hospital and 8,290 patients (37.1%) had SAE. In-hospital mortality in the SAE group was higher than that in the non-SAE group (18.8 vs. 8.9%, p &lt; 0.001). Based on the results of logistic regression analysis, a nomogram integrating age, Na+, Sequential Organ Failure Assessment (SOFA) score, heart rate, and body temperature were constructed. The area under the curve (AUC) of the nomogram was 80.2% in the training set and 80.9% in the validation set. Calibration curve analysis showed a good predictive capacity of the nomogram.ConclusionSAE is an independent risk of in-hospital mortality in elderly patients in the intensive care unit. The nomogram has an excellent predictive capability of SAE and helps in clinical practice.
Differential neural reward reactivity in response to food advertising medium in children
Authors: Yeum Dabin , Jimenez Courtney A. , Emond Jennifer A. , Meyer Meghan L. , Lansigan Reina K. , Carlson Delaina D. , Ballarino Grace A. , Gilbert-Diamond Diane , Masterson Travis D. 
Published: February 2023

IntroductionFood cues including food advertisements (ads) activate brain regions related to motivation and reward. These responses are known to correlate with eating behaviors and future weight gain. The objective of this study was to compare brain responses to food ads by different types of ad mediums, dynamic (video) and static (images), to better understand how medium type impacts food cue response.MethodsChildren aged 9–12 years old were recruited to complete a functional magnetic resonance imaging (fMRI) paradigm that included both food and non-food dynamic and static ads. Anatomical and functional images were preprocessed using the fMRIPrep pipeline. A whole-brain analysis and a targeted region-of-interest (ROI) analysis for reward regions (nucleus accumbens, orbitofrontal cortex, amygdala, insula, hypothalamus, ventral tegmental area, substantia nigra) were conducted. Individual neural responses to dynamic and static conditions were compared using a paired t-test. Linear mixed-effects models were then constructed to test the differential response by ad condition after controlling for age, sex, BMI-z, physical activity, and % of kcal consumed of a participant’s estimated energy expenditure in the pre-load prior to the MRI scan.ResultsA total of 115 children (mean=10.9 years) completed the fMRI paradigm. From the ROI analyses, the right and left hemispheres of the amygdala and insula, and the right hemisphere of the substantia nigra showed significantly higher responses for the dynamic food ad medium after controlling for covariates and a false discovery rate correction. From the whole-brain analysis, 21 clusters showed significant differential responses between food ad medium including the precuneus, middle temporal gyrus, superior temporal gyrus, and inferior frontal gyrus, and all regions remained significant after controlling for covariates.DiscussionAdvertising medium has unique effects on neural response to food cues. Further research is needed to understand how this differential activation by ad medium ultimately affects eating behaviors and weight outcomes.
Novel maternal autoantibodies in autism spectrum disorder: Implications for screening and diagnosis
Authors: Mazón-Cabrera Rut , Liesenborgs Jori , Brône Bert , Vandormael Patrick , Somers Veerle 
Published: February 2023

IntroductionAutism spectrum disorder (ASD) is a complex neurodevelopmental disorder for which early recognition is a major challenge. Autoantibodies against fetal brain antigens have been found in the blood of mothers of children with ASD (m-ASD) and can be transferred to the fetus where they can impact neurodevelopment by binding to fetal brain proteins. This study aims to identify novel maternal autoantibodies reactive against human fetal brain antigens, and explore their use as biomarkers for ASD screening and diagnosis.MethodsA custom-made human fetal brain cDNA phage display library was constructed, and screened for antibody reactivity in m-ASD samples from the Simons Simplex Collection (SSC) of the Simons Foundation Autism Research Initiative (SFARI). Antibody reactivity against 6 identified antigens was determined in plasma samples of 238 m-ASD and 90 mothers with typically developing children (m-TD).ResultsWe identified antibodies to 6 novel University Hasselt (UH)-ASD antigens, including three novel m-ASD autoantigens, i.e., ribosomal protein L23 (RPL23), glyceraldehyde-3-phosphate dehydrogenase (GAPDH) and calmodulin-regulated spectrin-associated protein 3 (CAMSAP3). Antibody reactivity against a panel of four of these targets was found in 16% of m-ASD samples, compared to 4% in m-TD samples (p = 0.0049).DiscussionMaternal antibodies against 4 UH-ASD antigens could therefore provide a novel tool to support the diagnosis of ASD in a subset of individuals.