bluuebunny/crossref_metadata_2025_split huggingface dataset:
Utility of the SERPINC1 Gene Test in Ischemic Stroke Patients With Antithrombin Deficiency
Authors: Kim Seondeuk , Lee Woo-Jin , Moon Jangsup , Jung Keun-Hwa 
Published: June 2022

ObjectiveAntithrombin (AT) plays a critical role in the coagulation system, and its deficiency induces hypercoagulability. AT deficiency is caused not only by inherited variants in the SERPINC1 gene but also by acquired conditions. Therefore, AT deficiency alone could not ensure the presence of the SERPINC1 mutation. We evaluated the utility of the SERPINC1 gene test in ischemic stroke, an important clinical type of arterial thrombosis.MethodsThis retrospective, observational study investigated symptomatic patients who underwent the SERPINC1 gene test because of decreased AT activity (&lt;80%) during 2009-2021 at a tertiary hospital. For the detection of sequence variants in the SERPINC1 gene, direct Sanger sequencing and multiplex ligation-dependent probe amplification were performed. The phenotypes of patients with SERPINC1 gene mutations were examined, and the conditions associated with the pathogenic variants were analyzed.ResultsIn our cohort (n = 19), 13 of 19 patients (68.4%) had the pathogenic variant of the SERPINC1 gene. Ischemic stroke (n = 7) was significantly associated with the pathogenic variants (p = 0.044), and the pathogenicity detection rate was 100%. For any kind of arterial thrombosis (n = 8), the detection rate of the pathogenic variant was 87.5%, but was not statistically significant (p = 0.177). The detection rates of the pathogenic variant in ischemic stroke or arterial thrombosis groups were both higher than those in the venous thrombosis-only group (54.5%).ConclusionThe SERPINC1 gene test was useful in determining the cause of AT deficiency-related arterial thrombosis, especially ischemic stroke. We propose the diagnostic flow of SERPINC1-related ischemic stroke.
Positive Relationship Between Paroxysmal Vertigo and Right-to-Left Shunt: A Large Observational Study
Authors: Liu Kaiming , Tian Xiulin , Hong Wenwu , Xiao Yujin , Chen Juanyan , Jin Haidi , Wang Faming , Xu Xiaopei , Zang Tao , Zhang Liang , Pan Mengxiong , Zou Xiaodong 
Published: June 2022

BackgroundThe association between paroxysmal vertigo and right-to-left shunt (RLS) is rarely reported. This study investigates the prevalence and correlation of RLS in patients with different paroxysmal vertigo diseases.MethodsPatients with paroxysmal vertigo from seven hospitals in China were included in this observational study between 2017 and 2021. Migraine patients within the same period were included for comparison. Demographic data and medical history were collected; contrast transthoracic echocardiography was performed; and the clinical features, Dizziness Handicap Inventory, and incidence of RLS in each group were recorded.ResultsA total of 2,751 patients were enrolled. This study's results demonstrated that the proportion of RLS in patients with benign recurrent vertigo (BRV) and vestibular migraine (VM) was significantly higher than that in patients with benign paroxysmal positional vertigo, Meniere's disease, and vestibular paroxysmia (P &lt; 0.05). No statistical difference was shown between the frequency of RLS in patients with BRV and those with migraine and VM. A positive correlation was shown between the RLS grade and Dizziness Handicap Inventory scores of patients with VM and BRV (P &lt; 0.01) after effectively controlleding the effect of confounding variables.ConclusionsRLS was significantly associated with BRV and VM. RLS may be involved in the pathogeneses of BRV and VM and may serve as a differential reference index for the paroxysmal vertigo.Trial RegistrationCHRS, NCT04939922, registered 14 June 2021- retrospectively registered, https://register.clinicaltrials.gov.
Altered Default Mode Network Functional Connectivity in Parkinson’s Disease: A Resting-State Functional Magnetic Resonance Imaging Study
Authors: Chen Lu , Huang Ting , Ma Di , Chen Yu-Chen 
Published: June 2022

PurposeWhether the intrinsic functional connectivity pattern of the default mode network (DMN) is involved in the progression of cognitive decline in Parkinson’s disease (PD) remains unclear. This study aimed to investigate the intrinsic functional connectivity (FC) pattern of the DMN anchored on the posterior cingulate cortex (PCC) in patients with PD by resting-state functional magnetic resonance imaging (fMRI).MethodsFifty patients with PD and 50 healthy controls (HCs) were included for resting-state fMRI scanning. A seed-based FC method was used to reveal FC patterns in the DMN with region of interest (ROI) in the PCC. Relationships between FC patterns and disease severity (UPDRS-III) were detected.ResultsCompared with the HCs, the patients with PD showed increased FC between the PCC and the right precuneus, left cuneus, and right angular gyrus. In the PD group, the increased FC values in the right precuneus were significantly and positively correlated with motor severity as assessed with UPDRS-III scores (rho = 0.337, p = 0.02).ConclusionOur result highlights that the patients with PD showed increased FC between the PCC and the right precuneus, left cuneus, and right angular gyrus in the DMN. The altered connectivity pattern in the DMN may play a crucial role in the neurophysiological mechanism of cognitive decline in patients with PD. These findings might provide new insights into neural mechanisms of cognitive decline in PD.
Genetic Variation of PD-L1 Gene Affects its Expression and Is Related to Clinical Outcome in Epithelial Ovarian Cancer
Authors: Sun Haiyan , Li Yan , Si Wengang , Hua Tian , Chen Juan , Kang Shan 
Published: June 2022

ObjectiveThis study aims to investigate the effect of polymorphisms of programmed cell death-ligand 1 (PD-L1) on the risk and patient’s outcomes of epithelial ovarian cancer (EOC).MethodsTotally, 568 patients and 532 healthy women were included. Three polymorphisms in the PD-L1 gene, rs2297136, rs4143815 and rs4742098, were genotyped by the polymerase chain reaction/ligase detection reaction (PCR-LDR). Survival analysis was performed in 234 patients (received primary debulking surgery followed by platinum-based chemotherapy).ResultsPatients with the rs2297136 AG + GG genotypes had shorter progression-free survival (PFS) (hazard ratio (HR)=1.44, 95% CI=1.03-2.01) and overall survival (OS) (HR=1.55, 95% CI=1.06-2.27) than those with the AA genotype. Moreover, the mRNA and protein expression levels of PD-L1 in EOC tissues with the rs2297136 AG + GG genotypes were remarkably higher than those with the AA genotype (P=0.032 and P=0.047, respectively). Survival analysis showed that high expression of PD-L1 mRNA was remarkably associated with worse 10-year PFS (HR=1.55, 95% CI=1.28-1.88) and OS (HR=1.51, 95% CI=1.00-2.28) in EOC patients.ConclusionsThe rs2297136 may not only effectively influence the expression of PD-L1, but also is significantly associated with EOC patients’ outcomes.
Could Metabolic Syndrome Be a Predictor of Survival Outcomes in Upper Tract Urothelial Carcinoma? A Propensity Score Matching Study in a Large Chinese Center
Authors: Dai Xiang , Wang Fei , Du Yiqing , Qin Caipeng , Lai Shicong , Song Yuxuan , Huang Zixiong , Han Songchen , Zhang Xiaopeng , Xu Tao 
Published: June 2022

PurposeTo evaluate the prognostic value of metabolic syndrome (MetS) in upper tract urothelial carcinoma (UTUC) patients based on propensity score matching (PSM) analysis.Patients and MethodsA total of 573 patients with UTUC after radical nephroureterectomy were included at Peking University People’s Hospital from January 2007 to April 2021. MetS was diagnosed according to the criteria of Chinese Diabetes Society and was defined as the presence of 3 or more of the following 4 conditions (obesity, hyperglycemia, hypertension, high triglycerides and/or low high-density lipoprotein-cholesterol). Patients were divided into two groups based on whether they had MetS, whose variables were adjusted using 1:1 PSM analysis with a caliber of 0.02 to minimize selection bias. Univariate and multivariate Cox regression analysis were used to evaluate the association of MetS and its components with pathological outcomes after adjusting preoperative confounders by propensity score matching. The Kaplan-Meier method was used to estimate overall survival (OS), cancer-specific survival (CSS), and intravesical recurrence-free survival (IVRFS) after surgery.ResultsMetS was significantly correlated with older age, a history of coronary heart disease, high Charlson Comorbidity Index, low estimated Glomerular filtration rate, and low aspartate/alanine aminotransferase ratio (all P&lt;0.05). Multivariate Cox regression analysis and Kaplan-Meier curves demonstrated that MetS showed no statistical correlation with lower OS or IVRFS and approaching significance with lower CSS (P=0.063) before PSM. After PSM, the 5-year OS, CSS, and IVRFS were 64.1%, 74.7%, and 77.2%, respectively, in the MetS group, compared with 67.4%, 78.8%, and 77.2%, respectively, in non-MetS group. Univariate Cox regression analyses showed that MetS and its components were not associated with decreased OS, CSS, or IVRFS (all P&gt;0.05).ConclusionIn our study, no statistical difference was found between MetS and survival outcomes in UTUC, except a marginal association with lower CSS. Further studies are needed to evaluate the role of MetS and its each single component on UTUC.
Endoscopic Endonasal Supraoptic and Infraoptic Approaches for Complex “Parasuprasellar” Lesions: Surgical Anatomy, Technique Nuances, and Case Series
Authors: Bao YouYuan , Yang YouQing , Zhou Lin , Xie ShenHao , Wu Xiao , Ding Han , Wu Jie , Xiao Limin , Yang Le , Tang Bin , Hong Tao 
Published: June 2022

ObjectiveThe surgical management of lesions involving the lateral area of the suprasellar region, including the lateral aspect of the planum sphenoidale and the tight junction region of the optic canal (OC), anterior clinoid process (ACP), and internal carotid artery (ICA) and its dural rings, is extremely challenging. Here, these regions, namely, the “parasuprasellar” area, are described from the endonasal perspective. Moreover, the authors introduce two novels endoscopic endonasal supraoptic (EESO) and endoscopic endonasal infraoptic (EEIO) approaches to access the parasuprasellar area.MethodsSurgical simulation of the EESO and EEIO approaches to the parasuprasellar area was conducted in 5 silicon-injected specimens. The same techniques were applied in 12 patients with lesions involving the parasuprasellar area.ResultsThe EESO approach provided excellent surgical access to the lateral region of the planum sphenoidale, which corresponds to the orbital gyrus of the frontal lobe. With stepwise bone (OC, optic strut and ACP) removal, dissociation of the ophthalmic artery (OA) and optic nerve (ON), the EEIO approach enables access to the lateral region of the supraclinoidal ICA. These approaches can be used independently or in combination, but are more often employed as a complement to the endoscopic endonasal midline and transcavernous approaches. In clinical application, the EESO and EEIO approaches were successfully performed in 12 patients harboring tumors as well as multiple aneurysms involving the parasuprasellar area. Gross total and subtotal tumor resection were achieved in 9 patients and 1 patient, respectively. For two patients with multiple aneurysms, the lesions were clipped selectively according to location and size. Visual acuity improved in 7 patients, remained stable in 4, and deteriorated in only 1. No postoperative intracranial infection or ICA injury occurred in this series.ConclusionsThe EESO and EEIO approaches offer original treatment options for well-selected lesions involving the parasuprasellar area. They can be combined with the endoscopic endonasal midline and transcavernous approaches to remove extensive pathologies involving the intrasellar, suprasellar, sphenoid, and cavernous sinuses and even the bifurcation of the ICA. This work for the first time pushes the boundary of the endoscopic endonasal approach lateral to the supraclinoidal ICA and ON.
The Effect of Complications on Oncological Outcomes of Colorectal Cancer Patients After Primary Surgery: A Propensity Score Matching Analysis
Authors: Liu Xiao-Yu , Zhang Bin , Kang Bing , Cheng Yu-Xi , Yuan Chao , Tao Wei , Wei Zheng-Qiang , Peng Dong 
Published: June 2022

PurposeThe purpose of this study is to explore the oncologic outcomes of complications on colorectal cancer (CRC) patients who underwent primary surgery using a propensity score matching (PSM) analysis.MethodsA retrospective study was conducted from Jan 2011 to Jan 2020 in a clinical center. The overall survival (OS) and disease-free survival (DFS) were compared among the no complications group, the major complications group and the minor complications group.ResultsA total of 4250 CRC patients who underwent radical primary surgery were included in the current study. Among them, 927 (21.8%) patients suffered complications. After 1:1 ratio PSM, there were 98 patients in the major complications group and in the minor complications group, and 911 patients in the overall complications group and in the no complications group. There was no significant difference in terms of baseline information after PSM (p&gt;0.05). Complications were independent predictors of OS (p=0.000, HR=1.693, 95% CI=1.476-1.941) and DFS (p=0.000, HR=1.555, 95% CI=1.367-1.768). In terms of specific tumor stage, the no complications group had better OS on all stages (p=0.006) and stage III (p=0.003) CRC than the complications group after PSM. Furthermore, the no complications group had better DFS on all stages (p=0.005) and stage III (p=0.021) CRC than the complications group after PSM. However, there was no significant difference between the minor complications group and the major complications group in different tumor stages (p&gt;0.05).ConclusionComplications were associated with poor prognosis of CRC and surgeons should be cautious of the adverse events.
Occurrence of Thromboembolism in Paediatric Patients With Inflammatory Bowel Disease: Data From the CEDATA-GPGE Registry
Authors: De Laffolie Jan , Ballauff Antje , Wirth Stefan , Blueml Carolin , Rommel Frank Risto , Claßen Martin , Laaß Martin , Lang Thomas , Hauer Almuthe Christina ,   the CEDATA-GPGE Study Group
Published: June 2022

ObjectiveAmong patients with inflammatory bowel disease (IBD), the risk of thromboembolism (TE) is increased, representing a relevant cause of morbidity and mortality. In contrast to other extraintestinal IBD manifestations, TE receives much less attention because of its low incidence, estimated at merely 0.4–0.9% in hospitalised children with IBD.MethodsCases with TE, as documented in the German-Austrian Paediatric IBD registry gesellschaft für pädiatrische gastroenterologie und ernährung – large paediatric patient registry (CEDATA-GPGE), were analyzed retrospectively. For all patients with signs of TE, a questionnaire was filled in by the treating paediatric gastroenterologist.ResultsOver 10 years, 4,153 paediatric patients with IBD (0–18 years) were registered in the registry, and 12 of them identified with TE. Eight patients were diagnosed with ulcerative colitis (UC), three with Crohn’s disease (CD), and one with IBD-unclassified. The median age at IBD diagnosis was 10 years and at the manifestation of TE 13 years, respectively, with a median latency to TE of 2 years. Prevalence of TE was 0.3%, with a significantly higher risk for patients with UC than CD (OR 5.9, CI 1.56–22.33, p = 0.008). More girls than boys were affected (f:m = 7:5) without reaching significance. Approximately 90% of patients experienced TE during active disease, with relevant cerebral and limb involvement in 6/12 patients. Various risk factors, e.g., hospitalisation, coagulopathy, or anaemia were identified. TE management included intensive care and surgery. Among the 12 patients, 11 recovered fully, in which one patient has focal epilepsy as a sequela.ConclusionPaediatric patients with IBD have a substantially increased risk for TE. Risk factors, such as those identified should be considered when managing paediatric IBD and preventive measures for those hospitalised taken routinely. Initiating pharmacological thromboprophylaxis is challenging for the lack of published trials on efficacy and safety in paediatric IBD but should be considered carefully in each case.
Use of Complementary and Alternative Medicine and Adherence to Medication Therapy Among Stroke Patients: A Meta-analysis and Systematic Review
Authors: Rajahthurai Sareneya Dashni , Farrukh Muhammad Junaid , Makmor-Bakry Mohd , Tan Hui Jan , Fatokun Omotayo , Mohd Saffian Shamin , Ramatillah Diana Laila 
Published: June 2022

Purpose: To identify the use patterns of complementary and alternative medicine (CAM) and its impact on medication adherence among patients with stroke.Method: A systematic search through Science Direct, Google Scholar, and PubMed was performed to identify potential studies up to June 2021.The primary outcome was CAM use, and the secondary outcome was medication adherence among patients with stroke. Articles included in the review met the following criteria: 1) patients with stroke ≥18 years old on prescribed medications, and 2) medication adherence reported status. Meta-analyses were conducted to estimate the pooled prevalence of complementary and alternative medicine and adherence in stroke patients using a random-effects model.Results: A total of 1,330 studies were screened, of which 22 were included in the final analysis. The type of studies included were cross-sectional surveys, cohort studies, retrospective studies and prospective survey. The pooled prevalence of CAM usage was at 38% (29–48% CI) and medication non-adherence among stroke patients was at 29% (20–48% CI). The most common reason for inadequate stroke therapy and higher dependence on CAM was the patients’ lack of knowledge and the regimen complexity of the medication. Other factors for medication non-adherence were forgetfulness, side effects, cost, and lack of doctor-patient communication.Conclusion: A low prevalence of CAM usage and non-adherence to medications was observed among patients with stroke. Studies investigating the association between CAM usage and medication adherence among patients with stroke are scarce and future researches are needed to explore the influence of CAM use on stroke medication adherence.
Engaging Patients via Online Healthcare Fora: Three Pharmacovigilance Use Cases
Authors: Powell Greg , Kara Vijay , Painter Jeffery L. , Schifano Lorrie , Merico Erin , Bate Andrew 
Published: June 2022

Increasingly, patient-generated safety insights are shared online, via general social media platforms or dedicated healthcare fora which give patients the opportunity to discuss their disease and treatment options. We evaluated three areas of potential interest for the use of social media in pharmacovigilance. To evaluate how social media may complement existing safety signal detection capabilities, we identified two use cases (drug/adverse event [AE] pairs) and then evaluated the frequency of AE discussions across a range of social media channels. Changes in frequency over time were noted in social media, then compared to frequency changes in Food and Drug Administration Adverse Event Reporting System (FAERS) data over the same time period using a traditional disproportionality method. Although both data sources showed increasing frequencies of AE discussions over time, the increase in frequency was greater in the FAERS data as compared to social media. To demonstrate the robustness of medical/AE insights of linked posts we manually reviewed 2,817 threads containing 21,313 individual posts from 3,601 unique authors. Posts from the same authors were linked together. We used a quality scoring algorithm to determine the groups of linked posts with the highest quality and manually evaluated the top 16 groups of posts. Most linked posts (12/16; 75%) contained all seven relevant medical insights assessed compared to only one (of 1,672) individual post. To test the capability of actively engage patients via social media to obtain follow-up AE information we identified and sent consents for follow-up to 39 individuals (through a third party). We sent target follow-up questions (identified by pharmacovigilance experts as critical for causality assessment) to those who consented. The number of people consenting to follow-up was low (20%), but receipt of follow-up was high (75%). We observed completeness of responses (37 out of 37 questions answered) and short average time required to receive the follow-up (1.8 days). Our findings indicate a limited use of social media data for safety signal detection. However, our research highlights two areas of potential value to pharmacovigilance: obtaining more complete medical/AE insights via longitudinal post linking and actively obtaining rapid follow-up information on AEs.
A Convolutional Neural Network Based on Ultrasound Images of Primary Breast Masses: Prediction of Lymph-Node Metastasis in Collaboration With Classification of Benign and Malignant Tumors
Authors: Li Chunxiao , Guo Yuanfan , Jia Liqiong , Yao Minghua , Shao Sihui , Chen Jing , Xu Yi , Wu Rong 
Published: June 2022

Purpose: A convolutional neural network (CNN) can perform well in either of two independent tasks [classification and axillary lymph-node metastasis (ALNM) prediction] based on breast ultrasound (US) images. This study is aimed to investigate the feasibility of performing the two tasks simultaneously.Methods: We developed a multi-task CNN model based on a self-built dataset containing 5911 breast US images from 2131 patients. A hierarchical loss (HL) function was designed to relate the two tasks. Sensitivity, specificity, accuracy, precision, F1-score, and analyses of receiver operating characteristic (ROC) curves and heatmaps were calculated. A radiomics model was built by the PyRadiomics package.Results: The sensitivity, specificity and area under the ROC curve (AUC) of our CNN model for classification and ALNM tasks were 83.5%, 71.6%, 0.878 and 76.9%, 78.3%, 0.836, respectively. The inconsistency error of ALNM prediction corrected by HL function decreased from 7.5% to 4.2%. Predictive ability of the CNN model for ALNM burden (≥3 or ≥4) was 77.3%, 62.7%, and 0.752, and 66.6%, 76.8%, and 0.768, respectively, for sensitivity, specificity and AUC.Conclusion: The proposed multi-task CNN model highlights its novelty in simultaneously distinguishing breast lesions and indicating nodal burden through US, which is valuable for “personalized” treatment.