bluuebunny/crossref_metadata_2025_split huggingface dataset:
Implementation of Universal Newborn Screening for Severe Combined Immunodeficiency in Singapore While Continuing Routine Bacille-Calmette-Guerin Vaccination Given at Birth
Authors: Chan Su-Wan Bianca , Zhong Youjia , Lim Soon Chuan James , Poh Sherry , Teh Kai Liang , Soh Jian Yi , Chong Chia Yin , Thoon Koh Cheng , Seng Michaela , Tan Ee Shien , Arkachaisri Thaschawee , Liew Woei Kang 
Published: January 2022

IntroductionSevere Combined Immunodeficiency (SCID) is generally fatal if untreated; it predisposes to severe infections, including disseminated Bacille-Calmette-Guerin (BCG) disease from BCG vaccination at birth. However, delaying BCG vaccination can be detrimental to the population in tuberculosis-endemic regions. Early diagnosis of SCID through newborn screening followed by pre-emptive treatment with anti-mycobacterial therapy may be an alternative strategy to delaying routine BCG vaccination. We report the results of the first year of newborn SCID screening in Singapore while continuing routine BCG vaccination at birth.MethodNewborn screening using a T-cell receptor excision circle (TREC) assay was performed in dried blood spots received between 10 October 2019 to 9 October 2020 using the Enlite Neonatal TREC kit. Patients with low TREC had lymphocyte subset analysis and full blood count performed to determine the severity of lymphopenia and likelihood of SCID to guide further management.ResultsOf the 35888 newborns screened in 1 year, no SCID cases were detected, while 13 cases of non-SCID T-cell lymphopenia (TCL) were picked up. Using a threshold for normal TREC to be &gt;18 copies/μL, the retest rate was 0.1% and referral rate to immunologist was 0.04%. Initial low TREC correlated with low absolute lymphocyte counts (ALC), and subsequent normal ALC corresponded with increases in TREC, thus patients with normal first CD3+ T cell counts were considered to have transient idiopathic TCL instead of false positive results. 7/13 (54%) had secondary TCL (from sepsis, Trisomy 21 with hydrops and stoma losses or chylothorax, extreme prematurity, or partial DiGeorge Syndrome) and 6/13 (46%) had idiopathic TCL. No cases of SCID were diagnosed clinically in Singapore during this period and for 10 months after, indicating that no cases were missed by the screening program. 8/9 (89%) of term infants with abnormal TREC results received BCG vaccination within the first 6 days of life when TREC and ALC were low. No patients developed BCG complications after a median follow-up of 17 months.ConclusionNewborn screening for SCID can be implemented while continuing routine BCG vaccination at birth. Patients with transient TCL and no underlying primary immunodeficiency are able to tolerate BCG vaccination.
Property Evaluation of Cement-Stabilized Macadam Modified via Phosphorus Slag Materials
Authors: Qian Guoping , Liu Wei , Gong Xiangbing , Li Xi , Zhang Yalong 
Published: January 2022

Phosphorus slag, known as the waste product of the phosphate ore industry, is causing critical environmental issues due to its direct exposure to natural spaces. In this article, a partial replacement of the natural fine aggregate ordinarily used in cement-stabilized macadam (CSM) base by phosphorus slag was explored to be an effective solution for phosphorus slag waste. CSM specimens were fabricated by adding various dosages of phosphorus slag particle and fine powder, whereas the optimum moisture content and maximum dry density were analyzed through compaction tests. Compressive strength, bending tensile strength, fatigue life span, dry shrinkage, and temperature shrinkage performance at different curing durations were investigated to evaluate the properties of modified macadam. Results show that phosphorus slag reduced the early compressive strength of CSM to a small extent, but the compressive strength finally increased at 90 days’ curing. The modified slag particles and slag fine powder exhibited different behaviors to repeated loading, moisture loss, and temperature difference. Finally, according to the strength change, fatigue performance comparison, and shrinkage strain caused by the incorporation of phosphorous slag materials into the CSM, it was verified that 25% of the particles to 40% of the fine powder is the best replacement ratio.
EEG-Driven Prediction Model of Oxcarbazepine Treatment Outcomes in Patients With Newly-Diagnosed Focal Epilepsy
Authors: Wang Bin , Han Xiong , Zhao Zongya , Wang Na , Zhao Pan , Li Mingmin , Zhang Yue , Zhao Ting , Chen Yanan , Ren Zhe , Hong Yang 
Published: January 2022

Objective: Antiseizure medicine (ASM) is the first choice for patients with epilepsy. The choice of ASM is determined by the type of epilepsy or epileptic syndrome, which may not be suitable for certain patients. This initial choice of a particular drug affects the long-term prognosis of patients, so it is critical to select the appropriate ASMs based on the individual characteristics of a patient at the early stage of the disease. The purpose of this study is to develop a personalized prediction model to predict the probability of achieving seizure control in patients with focal epilepsy, which will help in providing a more precise initial medication to patients.Methods: Based on response to oxcarbazepine (OXC), enrolled patients were divided into two groups: seizure-free (52 patients), not seizure-free (NSF) (22 patients). We created models to predict patients' response to OXC monotherapy by combining Electroencephalogram (EEG) complexities and 15 clinical features. The prediction models were gradient boosting decision tree-Kolmogorov complexity (GBDT-KC) and gradient boosting decision tree-Lempel-Ziv complexity (GBDT-LZC). We also constructed two additional prediction models, support vector machine-Kolmogorov complexity (SVM-KC) and SVM-LZC, and these two models were compared with the GBDT models. The performance of the models was evaluated by calculating the accuracy, precision, recall, F1-score, sensitivity, specificity, and area under the curve (AUC) of these models.Results: The mean accuracy, precision, recall, F1-score, sensitivity, specificity, AUC of GBDT-LZC model after five-fold cross-validation were 81%, 84%, 91%, 87%, 91%, 64%, 81%, respectively. The average accuracy, precision, recall, F1-score, sensitivity, specificity, AUC of GBDT-KC model with five-fold cross-validation were 82%, 84%, 92%, 88%, 83%, 92%, 83%, respectively. We used the rank of absolute weights to separately calculate the features that have the most significant impact on the classification of the two models.Conclusion: (1) The GBDT-KC model has the potential to be used in the clinic to predict seizure-free with OXC monotherapy. (2). Electroencephalogram complexity, especially Kolmogorov complexity (KC) may be a potential biomarker in predicting the treatment efficacy of OXC in newly diagnosed patients with focal epilepsy.
The High Ratio of the Plasma miR-96/miR-99b Correlated With Poor Prognosis in Patients With Metastatic Colorectal Cancer
Authors: Chen Yi , Liu Haizhou , Ning Shufang , Wei Changhong , Li Jilin , Wei Wene , Zhang Litu 
Published: January 2022

Object: This study aims to clarify the expression of plasma miRNA in CRC patients, and to clarify the potential use of these miRNAs in diagnosis and prognosis, and to establish a prognostic model to initially explore its clinical value.Methods: We detected the expression of 6 miRNAs in normal colon epithelial cell lines and colorectal cancer cell lines by qRT-PCR and they were validated in the tissues of three subtypes: 20 healthy subjects, 41 pCRC and 49 mCRC patients. COX regression and ROC analyses use to evaluate the diagnostic and prognostic efficacy of candidate miRNAs. Subsequently, we initially established a nomogram prognostic model. MiRNA is also used to construct miRNA-mRNA interaction network and PPI network modules.Results: Five miRNAs showed significant differential expression in pCRC, mCRC patients and normal groups. ROC analysis showed that CEA, miR-96, miR-99b and miR-96/miR-99b are distinguishable from pCRC and mCRC patients, with AUC ranging from 0.65 to 0.91; among them, the ratio of miR-96/miR-99b is stronger than any diagnostic indicators, such as CEA and CA125. Multivariate survival analysis identified miR-96, miR-99b, N stage, M stage and clinical stage as independent prognostic indicators of mCRC. The nomogram based on these 5 characteristics has satisfactory prognostic values.Conclusion: Our data indicate that plasma miR-96/miR-99b can be used as a promising biomarker for early detection of mCRC patients; our nomogram has a promising evaluation value.
Effect of Acute Levodopa Up-Titration on Blood Pressure in Patients With Early Stage Parkinson’s Disease: Results of a Levodopa Challenge Test
Authors: He Xiaoqin , Mo Chengjun , Zhang Yi , Cai Ying , Yang Xiaodong , Qian Yiwei , Xiao Qin 
Published: January 2022

Objective: Levodopa up-titration is the primary therapeutic strategy as the Parkinson’s disease (PD) progresses. However, the effects of levodopa up-titration on blood pressure (BP) are inconclusive. This study aimed to investigate the effect of acute levodopa up-titration simulated by levodopa challenge test (LCT) on BP in patients with early stage PD.Methods: We monitored BP in 52 patients with early stage PD using a standardized standing test. BP was assessed in supine position after 10 min of rest and at 1 and 3 min after standing up. BP was measured in the “off-state” and the best “on-state” during LCT in the morning at hospital. In another day, “off-state” and the best “on-state” BP was measured before and after anti-PD drug uptake in the morning at home. Demographic and clinical features of the patients were evaluated and analyzed.Results: In the LCT, the prevalence of OH in the “off-state” and the best “on-state” was 11.5 and 13.5%, respectively. Additionally, the OH in the best “on-state” was associated with OH in the “off-state” and monoamine oxidase B inhibitor use. Although 38 (73.1%) patients experienced levodopa-induced hypotension during the LCT, no risk factors were identified. While BP reductions were observed after taking anti-PD drugs at home, no further reduction was seen during acute levodopa up-titration simulated by the LCT.Conclusion: Our results demonstrate that acute levodopa up-titration does not exacerbate BP reduction induced by anti-PD drugs at home. BP monitoring is critical for the management of patients with PD.
Team Prenotification Reduces Procedure Times for Patients With Acute Ischemic Stroke Due to Large Vessel Occlusion Who Are Transferred for Endovascular Therapy
Authors: Pallesen Lars-Peder , Winzer Simon , Hartmann Christian , Kuhn Matthias , Gerber Johannes C. , Theilen Hermann , Hädrich Kevin , Siepmann Timo , Barlinn Kristian , Rahmig Jan , Linn Jennifer , Barlinn Jessica , Puetz Volker 
Published: January 2022

Background: The clinical benefit from endovascular therapy (EVT) for patients with acute ischemic stroke is time-dependent. We tested the hypothesis that team prenotification results in faster procedure times prior to initiation of EVT.Methods: We analyzed data from our prospective database (01/2016–02/2018) including all patients with acute ischemic stroke who were evaluated for EVT at our comprehensive stroke center. We established a standardized algorithm (EVT-Call) in 06/2017 to prenotify team members (interventional neuroradiologist, neurologist, anesthesiologist, CT and angiography technicians) about patient transfer from remote hospitals for evaluation of EVT, and team members were present in the emergency department at the expected patient arrival time. We calculated door-to-image, image-to-groin and door-to-groin times for patients who were transferred to our center for evaluation of EVT, and analyzed changes before (–EVT-Call) and after (+EVT-Call) implementation of the EVT-Call.Results: Among 494 patients in our database, 328 patients were transferred from remote hospitals for evaluation of EVT (208 -EVT-Call and 120 +EVT-Call, median [IQR] age 75 years [65–81], NIHSS score 17 [12–22], 49.1% female). Of these, 177 patients (54%) underwent EVT after repeated imaging at our center (111/208 [53%) -EVT-Call, 66/120 [55%] +EVT-Call). Median (IQR) door-to-image time (18 min [14–22] vs. 10 min [7–13]; p &lt; 0.001), image-to-groin time (54 min [43.5–69.25] vs. 47 min [38.3–58.75]; p = 0.042) and door-to-groin time (74 min [58–86.5] vs. 60 min [49.3–71]; p &lt; 0.001) were reduced after implementation of the EVT-Call.Conclusions: Team prenotification results in faster patient assessment and initiation of EVT in patients with acute ischemic stroke. Its impact on functional outcome needs to be determined.
Mapping Intellectual Structures and Research Hotspots of Triple Negative Breast Cancer: A Bibliometric Analysis
Authors: Hao Kai-jun , Jia Xiao , Dai Wen-ting , Huo Ze-min , Zhang Hua-qiang , Liu Jing-wei , Wang Xiao-bing 
Published: January 2022

BackgroundTriple negative breast cancer (TNBC) is a highly heterogeneous breast cancer subtype with a poor prognosis due to its extremely aggressive nature and lack of effective treatment options. This study aims to summarize the current hotspots of TNBC research and evaluate the TNBC research trends, both qualitatively and quantitatively.MethodsScientific publications of TNBC-related studies from January 1, 2010 to October 17, 2020 were obtained from the Web of Science database. The BICOMB software was used to obtain the high-frequency keywords layout. The gCLUTO was used to produce a biclustering analysis on the binary matrix of word-paper. The co-occurrence and collaboration analysis between authors, countries, institutions, and keywords were performed by VOSviewer software. Keyword burst detection was performed by CiteSpace.ResultsA total of 12,429 articles related to TNBC were identified. During 2010-2020, the most productive country/region and institution in TNBC field was the USA and The University of Texas MD Anderson Cancer Center, respectively. Cancer Research, Journal of Clinical Oncology, and Annals of Oncology were the first three periodicals with maximum publications in TNBC research. Eight research hotspots of TNBC were identified by co-word analysis. In the core hotspots, research on neoadjuvant chemotherapy, paclitaxel therapy, and molecular typing of TNBC is relatively mature. Research on immunotherapy and PARP inhibitor for TNBC is not yet mature but is the current focus of this field. Burst detection of keywords showed that studies on TNBC proteins and receptors, immunotherapy, target, and tumor cell migration showed bursts in recent three years.ConclusionThe current study revealed that TNBC studies are growing. Attention should be paid to the latest hotspots, such as immunotherapy, PARP inhibitors, target, and TNBC proteins and receptors.
Diagnostic Efficacy of Ultrasound, Cytology, and BRAFV600E Mutation Analysis and Their Combined Use in Thyroid Nodule Screening for Papillary Thyroid Microcarcinoma
Authors: Du Jing , Han Ruijun , Chen Cui , Ma Xiaowei , Shen Yuling , Chen Jun , Li Fenghua 
Published: January 2022

BackgroundUltrasound, cytology, and BRAFV600E mutation analysis were applied as valuable tools in the differential diagnosis of thyroid nodules. The aim of the present study was to evaluate the diagnostic efficiency of the three methods and their combined use in screening for papillary thyroid microcarcinoma (PTMC).MethodsA total of 1,081 patients with 1,157 thyroid nodules (0.5–1 cm in maximum diameter) classified as thyroid imaging reporting and data system (TIRADS) 4–5 were recruited. All patients underwent ultrasound, fine-needle aspiration (FNA) examination, and an additional BRAFV600E mutation test. TIRADS and Bethesda System for Reporting Thyroid Cytopathology (BSRTC) were adopted to judge the ultrasound and cytological results. The receiver operating characteristic (ROC) curve was established to assess the diagnostic values of different methods.ResultsOf the 1,157 nodules, 587 were benign and 570 were PTMCs. BRAFV600E mutation test had highest sensitivity (85.4%), specificity (97.1%), accuracy (91.4%), and area under the ROC curve (Az) value (0.913) among the three methods. The combination of BSRTC and BRAFV600E mutation analysis yielded a considerably high sensitivity (96.0%), accuracy (94.3%), and negative predictive value (95.9%) than either BSRTC or BRAFV600E mutation alone (P &lt; 0.0001 for all comparisons). Of all the methods, the combined use of the three methods produced the best diagnostic performance (Az = 0.967), which was significantly higher than that (Az = 0.943) for the combination of BSRTC and BRAFV600E mutation (P &lt; 0.0001). The diagnostic accuracy of the molecular method in the 121 nodules with indeterminate cytology was 90.1% (109/121), which was significantly higher than that of TIRADS classification, 74.4% (90/121) (P = 0.002).ConclusionThe combined use of ultrasound, cytology, and BRAFV600E mutation analysis is the most efficient and objective method for diagnosing PTMC. Both BRAFV600E mutation and TIRADS classification are potentially useful adjuncts to differentiate thyroid nodules, especially indeterminate samples classified as BSRTC III.
Survival Outcomes of Patients With Mediastinal Germ Cell Tumors: Experience of a Cancer Center in South America
Authors: Vallejo-Yepes Camilo , Carvajal-Fierro Carlos Andrés , Brugés-Maya Ricardo , Beltrán Julian , Buitrago Ricardo , Beltrán-Jimenez Rafael , Carreño-Dueñas José Alexander 
Published: January 2022

PurposeMediastinal germ cell tumors (GCT) are rare neoplasms associated with poor survival prognosis. Due to their low incidence, limited information is available about this disease in South America. The objective of this study is to report the clinical characteristics and outcomes of patients with mediastinal GCT in a cancer center in Colombia.Materials and MethodsWe conducted a retrospective analysis of patients with mediastinal GCT treated at the National Cancer Institute at Bogota (Colombia) between 2008 and 2020. Survival curves were presented using the Kaplan–Meier method. Chi-square and Cox proportional hazard model tests were used for data analysis.ResultsSixty-one patients were included in the study. Of them, 60 were male and 51 (83.6%) of whom had non-seminomatous germ cell tumors (NSGCT). Twenty-nine patients (47.5%) presented with superior vena cava syndrome, and 18 (29.5%) patients had extrapulmonary metastatic involvement. The three-year overall survival (OS) of NSGCT patients was 26%. The 3-year OS of NSGCT patients who underwent surgical resection of residual mediastinal mass after chemotherapy was 59%. Non-surgical management after first-line chemotherapy was associated with a worse survival prognosis in NSGCT patients (p = 0.002). Ten patients with mediastinal seminomatous germ cell tumors (SCGT) achieved a 3-year OS of 100%.ConclusionMediastinal NSGCT had poor outcomes. Surgery of the residual mass after first-line chemotherapy seems to improve the outcome of NSGCT patients. Advanced disease at presentation may reflect inadequate access to reference cancer centers in Colombia and potentially explain poor survival outcomes in this cohort. On the other hand, mediastinal SCGT is a biologically different disease; most patients will achieve disease remission and long-term survival with first-line chemotherapy.
A Five-Parameter Logistic Model to Predict the Possibility of Misdiagnosis for Improving the Specificity of Lugol Chromoendoscopy in the Diagnosis of Esophageal Neoplastic Lesions
Authors: Guo Zijun , Meng Lingjun , Tian Shuxin , Chen Lan , Shi Huiying , Fan Mengke , Lin Rong 
Published: January 2022

BackgroundLugol chromoendoscopy (LCE) is a technique that is inexpensive and convenient for screening esophageal neoplastic lesions. However, the specificity of LCE is limited. The purpose of this study was to determine the risk characteristics of lesions related to false-positive results for LCE.MethodsIn this retrospective study, 871 lesions in 773 patients scheduled for LCE in Wuhan Union Hospital and First Affiliated Hospital of Shihezi University between April 2013 and October 2018 were enrolled. The 871 lesions were used to determine the diagnostic performance of LCE for detecting esophageal neoplastic lesions and were divided into an LCE-positive group (627 lesions) and an LCE-negative group (244 lesions). Six hundred and twenty-seven unstained/understained lesions from 563 patients were used to determine the significant risk factors for misdiagnosis of neoplasms by LCE. Among them, 358 lesions and 269 lesions were classified into the misdiagnosed group and correctly diagnosed group, respectively. A multivariate logistic regression analysis was conducted for suspected esophageal neoplastic lesions during the LCE examination.ResultsThe sensitivity, specificity, and overall accuracy for LCE were 100%, 40.5%, and 58.9%, respectively. Among 13 characteristics of lesions, lesions with branching vascular network (OR 4.53, 95% CI 2.23–9.21, p &lt; 0.001), smooth lesions (OR 2.40, 95% CI 1.38–4.18, p = 0.002) under white light endoscopy (WLE), lesions with a size &lt; 5 mm (OR 3.06, 95% CI 1.38–6.78, p = 0.006), ill-demarcated lesions (OR 7.83, 95% CI 4.59–13.37, p &lt; 0.001), and pink color sign (PCS)-negative (OR 4.04, 95% CI 2.38–6.84, p &lt; 0.001) lesions after reaction with iodine solution were independent risk factors for misdiagnosis as neoplastic lesions by LCE.ConclusionLCE has a high sensitivity but limited specificity for screening esophageal neoplastic lesions. For unstained or understained lesions, branching vascular network or smooth appearance under WLE, a size &lt; 5 mm in diameter, ill-demarcated, or PCS-negative lesions after staining are related to the misdiagnosis of esophageal neoplastic lesions by LCE based on logistic regression. The multivariate logistic model may be used to predict the possibility of misdiagnosis and help improve the specificity of LCE in diagnosing esophageal neoplastic lesions.