bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical Experience with Fetal Sex Chromosome Aneuploidy Identified by Non-Invasive Prenatal Testing in 45773 Cases
Authors: Lu Xinran , Wang Chaohong , Sun Yuxiu , Tang Junxiang , Tong Keting , Zhu Jiansheng 
Published: July 2020

Abstract
Objective: To investigate the positive predictive value (PPV) and clinical features of non-invasive prenatal testing (NIPT) as a screening method in detecting sex chromosome aneuploidy (SCA) within a high-risk population at the Maternity and Child Health Hospital of Anhui Province.Methods: From June 2015 to June 2019, 45773 women with singleton pregnancies volunteered to take an NIPT. Cell-free fetal DNA was extracted for high-throughput sequencing and amniocentesis karyotype analysis was performed in pregnant women. Results: 314 high-risk pregnant women underwent NIPT and 143 chose invasive prenatal diagnosis. Karyotype analysis was performed in amniotic fluid cells, wherein 7 cases of 45,X (PPV: 12.50%), 16 cases of 47,XXX (PPV: 55.17%), 25 cases of 47,XXY (PPV: 71.43%), and 10 cases of 47,XYY(PPV: 76.92%) were confirmed. The PPV of NIPT for SCA was 40.56%. The rate of SCA detected in women aged 40 years and older was 0.39%, which was significantly different from that detected in women aged <30, 30–34, and 35–39 years (P < 0.05). The detection rates of 47,XXX and 47,XXY were significantly correlated with maternal age (P < 0.05), but those of 45,X and 47,XYY showed no significant correlation with maternal age.Conclusion: NIPT can be applied for the detection of SCA, but the detection accuracy is low. Genetic counseling and further prenatal diagnosis should be provided.
Total Cholesterol, Alanine Aminotransferase And the Risk of Primary Liver Cancer: A Population-based prospective study
Authors: Sun Miaomiao , Wang Wanchao , Liu Xining , Wang Yiming , Cui Haozhe , Liu Siqing , Cao Liying 
Published: July 2020

Abstract
Background: Previous studies have shown that serum total cholesterol(TC) and serum alanine aminotransferase(ALT) were associated with liver cancer risk, respectively. However, the common contribution of TC and normal-high ALT to primary liver cancer(PLC) has not been reported to date. We aim to assess the separate and joint effect of low TC level and normal-high ALT level on the risk of PLC, a large prospective cohort was conducted in our study.Methods: The participants were divided into 4 groups via cross-matching method according to TC[low level(-)/ non-low level(+)] and ALT[normal level(-)/ normal-high level(+)] status, and using the lower quartile(P25) value(4.24 mmol/L) of TC and the upper quartile(P75) value(22 U/L) of ALT as a threshold, respectively. Incident PLC was confirmed by review of medical records. Cox proportional hazards regression models and interactive additive models were used to evaluate whether the joint effect of low TC level and normal-high ALT level is associated with the risk of PLC.Results: During 1,248,895 person-years follow-up, 298 participants were diagnosed with PLC among 114,972 subjects. TC＜4.24 mmol/L for the “TC(-)” group; TC≥4.24 mmol/L for the “TC(+)” group; ALT＜22U/L for the “ALT(-)” group; ALT≥22U/L for the “ALT(+)”. Compared with the “TC(+)” group, “ALT(-)” group, respectively, the adjusted hazard ratio(HR) and 95% confidence interval(95%CI) for PLC risk was 1.71 (1.34-2.19) in “TC(-)” group and for PLC risk was 1.52 (1.18-1.95) in “ALT(+)” group. In combinatorial analysis, compared with “TC(+) and ALT(-)” group, the significant increased risk of PLC were observed in “TC(+) and ALT(+)” group (HR=1.45; 95%CI: 1.07-1.97), “TC(-) and ALT(-)” group(HR=1.64; 95%CI: 1.21-2.22) and “TC(-) and ALT(+)” group(HR=2.70; 95%CI: 1.84-3.96), respectively. The interaction between “TC(-)” and “ALT (+)” on the risk of PLC was not significant(Pinteraction=0.26). Conclusions: Both low TC level and normal-high ALT level were risk factors of PLC. There is the separate and joint effect of low TC level and normal-high ALT level on the risk of PLC.Trial registration: ChiCTR-TNRC-11001489. Registered August 24, 2011 (retrospectively registered)
Optimization of Epicardial Fat Thickness Change in Obese Patients with Weight Loss by Bariatric Surgery Using Central Composite and Box-Behnken Design
Authors: Elmalı Ferhan , Tekindal Mustafa Agah , Altın Cihan , Ateş Can , Erol Varlık 
Published: July 2020

Abstract
Background: The aim of our study was to determine the optimization of the change in epicardial fat thickness in obese patients who underwent bariatric surgery with Central Composite (CCD) and Box-Behnken Experimental design (BBD). Methods: Response Surface Methods are used to see the sensitivity of the assessment criterion to changes in design variables, and even to obtain the necessary correlations experimentally. Response surface methods are evaluated in two different ways as CCD and BBD design. In this study, 33 experimental designs were designed. The study data consisted of 40 obese patients who lost weight by bariatric surgery between February 2015 and December 2016. Body Mass Index (BMI), Age and HOMA values were evaluated in 3 categories and 3 levels, and response variable was the change in Epicardial Fat Thickness (ΔEFT). Results: As a result of CCD analysis, Age = 30.52, BMI = 45.30, HOMA = 34.62, the optimum ΔEFT = 2.571. As a result of BBD analysis, Age = 38.36, BMI = 63.18, HOMA = 14.95, the optimum ΔEFT = 3.756. Optimum ΔEFT is modeled with Contour and Response surface graphics. Conclusion: According to the results of the analysis, it was found that BBD analysis for optimum ΔEFT was more positive than CCD and optimum age, BMI and HOMA combinations were determined to reach maximum ΔEFT.
Anti-melanoma-associated Antigen A1 Autoantibodies Predict the Outcome of Patients With Idiopathic Inflammatory Myopathies Related Interstitial Lung Disease
Authors: Shen Yawen , Jiang Wei , Yang Hanbo , Chen He , Peng Qinglin , Wang Yanan , Yang Heng , Wang Guochun , Lu Xin 
Published: July 2020

Abstract
Background

The discovery of novel autoantibody in patients with idiopathic inflammatory myopathies (IIMs) is of great significance for clinical subtype stratification and potential pathogenesis. Previous literatures have found that tumor-associated antigens were involved in the pathogenesis of IIM. Therefore, in this study, we aimed to explore the prevalence and clinical association of autoantibodies against melanoma-associated antigen A1 (MAGE-A1) in patients with IIM.
Methods

ELISA was performed to detect anti-MAGE-A1 autoantibodies in patients with IIM, systemic lupus erythematosus, rheumatoid arthritis, primary Sjögren syndrome, systemic sclerosis, and healthy controls, and the results were confirmed using the dot-immunoblotting assay. The association between anti-MAGE-A1 autoantibody and clinical characteristics was analyzed in IIM patients. T test, Mann-Whitney U test, double-sided Pearson's Chi-square, Fisher exact test, Spearman correlation analysis as well as the generalized estimating equation were applied in the statistical analyses.
Results

Anti-MAGE-A1 autoantibodies were detected in 5.03% (29/576) of all IIM patients, 4.60% (18/390) of dermatomyositis, 7.20% (5/69) of amyopathic dermatomyositis, and 5.10% (6/117) of polymyositis/immune-mediated necrotizing myopathy patients. The frequency of interstitial lung disease (ILD) was higher in anti-MAGE-A1-positive patients than those in anti-MAGE-A1-negative ones (82.8% vs 55%, p = 0.003). Anti-MAGE-A1-positive patients with IIM associated ILD had less dyspnea, more commonly asymptomatic ILD, and higher percentage of force vital capacity and diffusing lung capacity of carbon monoxcide of predicted values when compared to negative ones. The anti-aminoacyl-tRNA synthetase (ARS) coexisting anti-MAGE-A1-positive patients had common monocyclic disease course, while only anti-ARS-positive and anti-ARS coexisting anti-Ro52-positive patients had a more polycyclic disease course. None of anti-ARS-positive patients coexisting anti-MAGE-A1 antibody died during 10-year follow-up evaluation.
Conclusion

Anti-MAGE-A1 is a novel autoantibody associated with ILD in IIM patients. Anti-MAGE-A1-positive IIM patients with ILD appear to have good prognosis. Detection of anti-MAGE-A1 autoantibody may be useful in predicting the outcome of IIM patients with ILD.
Calcitonin gene related peptide monoclonal antibody treats headache in patients with active idiopathic intracranial hypertension
Authors: Yiangou Andreas , Mitchell James , Vijay Vivek , Grech Olivia , Bilton Edward , Lavery Gareth , Fisher Claire , Edwards Julie , Mollan Susan , Sinclair Alexandra 
Published: July 2020

Abstract
BackgroundThe mechanisms driving headache in Idiopathic Intracranial Hypertension (IIH) are not fully understood. Headache is the dominant driver for disability and typically has migraine-like characteristics. There are currently no evidence-based therapeutics for headache in IIH, and consequently this is an important unmet need.Case seriesWe report seven patients with confirmed IIH who initially presented with increased headache driven by raised intracranial pressure (ICP). The headaches had migraine-like characteristics which persisted despite resolution of papilloedema (ocular remission). These headaches responded markedly to Erenumab, a monoclonal antibody targeted against the calcitonin gene related peptide (CGRP) receptor. Importantly, there was a recurrence of raised ICP and papilloedema, however headaches did not recur whilst treated with Erenumab.ConclusionsThese cases suggest that CGRP could be a mechanistic driver for headache in patients with active IIH. Clinical trials evaluating safety and efficacy of CGRP monoclonal antibodies in active IIH would be of interest.
Primary pleural squamous cell carcinoma accompanied by a big pulmonary bulla in a 68-year-old man: a case report and literature review
Authors: Zhong Chuan , Zhou Haining , Rami-Porta Ramón , Zhao Yunfei 
Published: July 2020

Abstract
Background: Primary pleural squamous cell carcinoma is extremely rare. Its incidence is not described in the literature, and the cause of this disease is unclear due to its rarity. Case presentation: We present the rare case of primary pleural squamous cell carcinoma in a 68-year-old man with a big pulmonary bulla who undergone en bloc complete resection of both lesions. Two months after surgery, the patient received radiation therapy over the operative field to a total dose of 50Gy. More than a year after completion of treatment, the patient is well and in complete remission. Conclusions: To the best of our knowledge, this is the first case of primary pleural squamous cell carcinoma with a big pulmonary bulla. Complete surgical resection combined with radiation therapy was proposed for therapeutic purposes. Toinvestigate long-term prognosis of this disease, further more cases are needed.
The comparison of the functional outcomes between primary closure and reconstruction with free flap after resection of T1 stage tongue cancer: A prospective study
Authors: Pathak Ajit Kumar , Wu Xiaoshan , Yang Rong , Long Huang , Xiong Yafei , Pradhan Pralab , Guo Feng 
Published: July 2020

Abstract
Background: Reconstruction with free flap after the resection of tongue cancer is commonly used by craniofacial surgeons. However, it is unknown whether the reconstruction with free flap is better than the primary closure for the T1 stage tongue cancer. The objective of this prospective study is to compare the functional outcomes between these two methods.Methods: In this prospective study, 30 patients who were diagnosed as T1 stage tongue cancer (on anterior -two third of the tongue) were randomly divided into two groups. The first group underwent the primary closure after the resection (15 patients) and the second group were reconstructed with the anterolateral perforator flap (15 patients). All patients underwent postoperative functional evaluation using specific questionnaires and a screening test with special emphasis on speech, swallowing, and tongue mobility at 1, 3, 6 and 12 months.Results: Functional outcomes, including tongue mobility, speech, and swallowing, were all better in primary closure than anterolateral thigh flap group. At 1-month post-op, the speech understandability of the patients who received a primary closure were statistically better than those who received ALT flap (p = 0.01), while at 1-year post-op, there was no significantly different on speech understandability between two groups (p = 0.16). Statistically significant differences were found between the two groups in the swallowing capacity at all four different time periods (p < 0.05). For the primary closure group, tongue mobility was statistically better at all four different time periods than in ALT flap group (p < 0.05).Conclusion: For the tongue cancer patients (T1), reconstruction with primary closure, rather than with flap, can reserve more functions including tongue mobility, speech and swallowing outcomes, and therefore might be the appropriate reconstruction method after partial glossectomy.
Debulking mastectomy with electrochemotherapy: a case report of no surgery approach to recurrent breast cancer.
Authors: Esposito Emanuela , Siani Claudio , Pace Ugo , Costanzo Raffaele , Giacomo Raimondo di 
Published: July 2020

Abstract
Background Electrochemotherapy has been shown to be safe, effective and non-invasive loco-regional treatment for chest wall breast cancer recurrence. Electrochemotherapy is the gold standard treatment of patients with cutaneous metastases from breast cancer who due to the extent of those lesions are not eligible for resection or radiotherapy has already been used, and systemic therapy is ineffective or contraindicated. Case presentation Here we present the case of a women affected by multiple metastatic cancers with multi-drug resistance who refused mastectomy after being diagnosed with recurrent ulcerated right breast cancer. We first describe an extended indication to electrochemotherapy to treat breast cancer recurrence after breast conserving surgery. Electroporation-induced necrosis through electrochemotherapy replaced surgery and was delivered in 30 minutes at 5000 Hz frequencies at 730 V by hexagonal needle under general anesthesia. The necrosis of the remaining breast resulted in a voluminous eschar that was easily removed few months after leaving the chest wall free from macroscopic disease turning in a non-surgical mastectomy. Conclusions. This kind of breakthrough application of electrochemotherapy might be considered to avoid palliative mastectomy in very selected patients. New technologies may help clinicians to find agreement between patient’ will and the burden of treatment and might contribute in selected cases to give options to patients not keen on having surgery.
Is Robot-assisted Radical Cystectomy the Preferred Minimal Invasive Procedure for Non-advanced Bladder Urothelial Carcinoma(T1-T2N0M0)? A Single Center Retrospective Study.
Authors: Xiao Ming , Zhong Zhaohui , Ren Jiannan , Xiong Wei 
Published: July 2020

Abstract
Background: To investigate the perioperative efficacy and cost of robot-assisted radical cystectomy(RARC) and laparoscopic RC(LRC) in patients with non-advanced bladder urothelial carcinomaMethods: 156 patients with non-advanced bladder urothelial carcinoma undergoing minimally invasive radical cystectomy in our center between January 2015 and April 2020 were included. Perioperative data and hospitalization expenses were extracted from our database. All analyses were performed using SPSS 23.0 software, and p < 0.05 was considered statistically significant.Results: The proportion of male patients was 86.5%(135/156) and the median age was 65(IQR 59-71) years old. RARC had a lower PSM rate (0 vs 5.3%,P=0.051), longer median operation time(370 vs 305 min,P<0.001) and higher median hospitalization cost(20565.2 vs 15532.4$,P<0.001). There were no significant differences in intraoperative transfusion rate, anesthesia resuscitation in ICU, postoperative hospital stay, 30-d complications and postoperative treatment expenses between the two groups(P=0.815,0.715, 0.817,0.92 and 0.543,respectively.)Conclusion: Short operation time and low hospitalization costs are favorable factors for LRC, but RARC may be the preferred surgical procedure for non-advanced bladder urothelial carcinoma considering the potentially low PSM rate.Trial registration: A complete informed consent was obtained from the patient and their families before the surgery.Informed consent was signed for all patients.This study was approved by the Ethics Review Committee of the Second Xiangya Hospital of Central South University
A Standard Set of Outcome Measures for the Comprehensive Assessment of Osteogenesis Imperfecta.
Authors: Nijhuis Wouter , Franken Anton , Ayers Kara , Damas Chantal , Folkestad Lars , Forlino Antonella , Fraschini Paolo , Hill Claire , Janus Guus , Kruse Richard , Wekre Lena , Michiels Lieve , Montpetit Kathleen , Panzeri Leonardo , Porquet-Bordes Valerie , Rauch Frank , Sakkers Ralph , Salles Jean-Pierre , Semler Oliver , Sun Jony , To Michael , Tosi Laura , Yao Yangyang , Yeung Eric Hiu Kwong , Zhytnik Lidiia , Zillikens Carola , Verhoef Marjolein 
Published: July 2020

Abstract
Background: Osteogenesis Imperfecta (OI) is a genetic disorder of collagen type I, also known as ‘brittle bone disease’. The clinical manifestation of OI shows a wide variation. Therefore, care for patients with OI requires an interdisciplinary approach. The effectiveness of particular interventions and treatment protocols of interdisciplinary teams is not clear due to a non-standardized and wide variation of patient outcomes making comparison of outcomes available in the literature difficult. It is only by agreeing on a common, standard set of outcome measures for the comprehensive appraisal of OI that comparisons across interdisciplinary treatment centers for OI will be possible in the future. Methods: The Key4OI international interdisciplinary working group of 27 members used a consensus-driven modified Delphi approach to develop a set of global outcome measures for patients with OI. This consensus method was based on data derived from the OI community and used focus groups, expert opinions and a literature search to determine the domains that matter most to people with OI. The International Classification of Functioning, Disability and Health (ICF), was used to define domains and organize the outcomes from the literature search. 16 focus groups (9 with adult and 7 with children) as well as multiple discussions and further Delphi rounds with the Key4OI working group were held to reach a consensus on a minimal set of outcomes and measuring instruments.Results: More than 400 different outcome measures were identified in our literature search. After three Delphi rounds, 24 domains were selected. After the focus group sessions, the number of domains were reduced to 15. A consensus was reached on the measuring instruments to cover these domains for both children and adults. Conclusion: The Key4OI project resulted in standard set of outcome measures focused on the needs and wishes of individuals with OI and their families. This outcome set will enable healthcare teams and systems to compare and to improve their care pathways and quality of care worldwide. Further studies are needed to evaluate the implementation of this standardized outcome set.
Nutrient Patterns and Their Relation With Obesity in Iranian Adults: A Population-based Study
Authors: Amini Mohammad Reza , Akbarzade Zahra , Djafari Farhang , Yarizadeh Habib , Shahavandi Mahshid , Sheikhhossein Fatemeh , Payande Nastaran , Djafarian Kurosh , Shab-Bidar Sakineh 
Published: July 2020

Abstract
Objective: In spite of growing evidence on the associations between nutrient patterns and obesity. A few study examined the association between patterns of nutrient intake and obesity we aimed to explore the association between nutrient pattern and obesity in Iranian adults.Results: In this cross-sectional study, a total of 850 subjects aged years 20 to 59 were randomly selected. Our statistical analysis revealed three major nutrient patterns that show the principle factor loading of nutrient intake. We observed a significant association between quintiles in men for Fasting Blood Sugar (FBS) (P<0.006) in the first nutrient pattern. Moreover, we identified a significant difference between quintiles in the first nutrient pattern in women for obesity (P=0.007), Systolic Blood Pressure (SBP) and Diastolic Blood Pressure (DBP) (P<0.02). In the third nutrient pattern, we identified a significant association for SBP in women (P<0.02).
A Capacity-building Pilot Program to Increase Critical Care Research Productivity in the Middle East Region
Authors: Nazer Lama , Kleinpell Ruth , Olsen Keith , Hawari Feras 
Published: July 2020

Abstract
Objective

Though research is well established in the developed world, it lags behind in developing countries. We describe a multi-disciplinary, structured, mentor-based program that aimed to improve research skills and increase research productivity among critical care practitioners in the Middle East region.
Results

The program was conducted between October 2016 and September 2017, and enrolled 11 critical care practitioners (5 pharmacists and 6 physicians) with minimal research experience from 5 countries (Jordan, Saudi Arabia, Oman, Egypt, and Sudan).The program addressed three major factors that contribute to low research productivity in developing countries which include: lack of research knowledge and skills, lack of mentorship, and poor preparation of manuscripts. It started with a research proposal workshop and ended with a manuscript writing workshop, with monthly webinars throughout the year about research-related topics. The faculty consisted of 10 clinical instructors, among whom 7 also served as mentors, a biostatistician, and a medical editor. By the end of the program, 7 research projects and 5 manuscripts were completed. According to the program evaluation, participants agreed that the program improved their research skills and the quality of their research.
Effect of Dapsone Alone and in Combination With Intracellular Antibiotics Against the Biofilm Form of B. Burgdorferi
Authors: Horowitz Richard Ira , Murali Krithika , Gaur Gauri , Freeman Phyllis R. , Sapi Eva 
Published: July 2020

Abstract
Objective
Lyme disease is a tick-borne, multisystemic disease caused by Borrelia burgdorferi. Standard treatments for early Lyme disease include short courses of oral antibiotics but relapses often occur after discontinuation of treatment. Several studies have suggested that ongoing symptoms may be due to a highly antibiotic resistant form of B. burgdorferi called biofilms. Our recent clinical study reported the successful use of an intracellular mycobacterium persister drug used in treating leprosy, diaminodiphenyl sulfone (dapsone), in combination therapy for the treatment of Lyme disease. In this in vitro study, we evaluated the effectiveness of dapsone individually and in combination with cefuroxime and/or other antibiotics with intracellular activity including doxycycline, rifampin, and azithromycin against Borrelia biofilm forms utilizing crystal violet biofilm mass, and dimethyl methylene blue glycosaminoglycan assays combined with Live/Dead fluorescent microscopy analyses.
Results
Dapsone, alone or in various combinations with doxycycline, rifampin and azithromycin produced a significant reduction in the mass and protective glycosaminoglycan layer and overall viability of B. burgdorferi biofilm forms. This in vitro study strongly suggests that dapsone combination therapy could represent a novel and effective treatment option against the biofilm form of B. burgdorferi.