bluuebunny/crossref_metadata_2025_split huggingface dataset:
Identification of mutations in the ATP7B gene in 14 Wilson disease children
Authors: Wang Jiuxiang , Tang Lulu , Xu Anqi , Zhang Shijie , Jiang Hailin , Pei Pei , Li Hongmei , Lv Tingting , Yang Yue , Qian Nannan , Naidu Keegan , Yang Wenming 
Published: April 2021

Abstract

Introduction:
Wilson Disease (WD) is an autosomal recessive inherited metabolic disease caused by mutations in the ATPase copper transporting beta gene (ATP7B). WD can cause fatal neurological and hepatic disorders if not diagnosed and treated.

Objective:
To analyze the disease-causing mutations of 14 Chinese WD children, 11 of whom are diagnosed with hepatic disorders, 2 with neurological degeneration and 1 with both hepatic and neurological disorders.

Methods:
All ATP7B coding regions were analyzed by Sanger sequencing. Single nucleotide polymorphisms (SNPs) functional impacts were assessed by combining the results of four bioinformatics tools (Poly-phen-2, SIFT, PANTHER-PSEP and PhD-SNPs) in an index that reflects the combined probability (cPdel) of an amino acid change to be deleterious to the protein function.

Results:
Two novel variants involved in WD development, c.1448_1455del (p.Arg483SerfsX19) and c.4144G>T (p.Glu1382Stop), and 11 previously reported mutations were detected. Both new variants result in shortened and dysfunctional ATP7B proteins. cPdel score suggests that SNPs may be deleterious to the ATP7B functionality.

Conclusions:
This study enriches the library of the ATP7B mutations that lead to WD and can be used as a basis for genetic counseling, for WD prevention and clinical and prenatal diagnosis. Those SNPs that are believed to be harmless to ATP7B protein may be involved in the pathogenesis of WD.
The clinical characteristics and outcomes of patients with fever of unknown origin caused by parasitic infection
Authors: Liu Huiting , Fan Hongwei , Huang Xiaoming , Jiao Yang 
Published: April 2021

Abstract
There are over 200 causes of fever of unknown origin (FUO), and although parasitic infection is an increasingly uncommon cause, a definitive diagnosis remains important to ensure rapid treatment and to prevent adverse sequelae through delay. Here, we studied the clinical features and outcomes of patients admitted with FUO and diagnosed with parasitic infection to improve our understanding of the features of parasitic FUO.
Medical records of patients admitted to Peking Union Medical College Hospital between 2013 and 2019 with FUO and diagnosed with parasitic infection were reviewed. The clinical features and outcomes of patients for whom follow-up data were available were summarized.
Six patients were admitted with FUO and diagnosed with parasitic infections (6/1013; 0.59%). Patients were more commonly middle-aged men and had a relatively long disease course. Most suffered from hyperpyrexia and other non-specific symptoms. Routine examinations were non-specific, and some patients had positive tumor markers, antinuclear antibodies, or positron emission tomography/computed tomography results. Diagnoses were confirmed by bone marrow smears, serum antibody testing, or feces examination. All 6 cases received anthelmintic treatments and recovered well.
Parasitic infections must be screened for and actively excluded in FUO patients so that targeted therapy can be rapidly administered to ensure optimal outcomes.
Identification of TNIK as a novel potential drug target in thyroid cancer based on protein druggability prediction
Authors: Yang Yi-Fei , Yu Bin , Zhang Xiu-Xia , Zhu Yun-Hua 
Published: April 2021

Abstract
Thyroid cancer is a common endocrine malignancy; however, surgery remains its primary treatment option. A novel targeted drug for the development and application of targeted therapy in thyroid cancer treatment remain underexplored.
We obtained RNA sequence data of thyroid cancer from The Cancer Genome Atlas database and identified differentially expressed genes (DEGs). Then, we constructed co-expression network with DEGs and combined it with differentially methylation analysis to screen the key genes in thyroid cancer. PockDrug-Server, an online tool, was applied to predict the druggability of the key genes. Finally, we constructed protein-protein interaction (PPI) network to observe potential targeted drugs for thyroid cancer.
We identified 3 genes correlated with altered DNA methylation level and oncogenesis of thyroid cancer. According to the druggable analysis and PPI network, we predicted TRAF2 and NCK-interacting protein kinase (TNIK) sever as the drug targeted for thyroid cancer. Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway enrichment analysis indicated that genes in protein-protein interaction network of TNIK enriched in mitogen-activated protein kinase signaling pathway. For drug repositioning, we identified a targeted drug of genes in PPI network.
Our study provides a bioinformatics method for screening drug targets and provides a theoretical basis for thyroid cancer targeted therapy.
Determinants of life satisfaction among stroke survivors 1 year post stroke
Authors: Abualait Turki S. , Alzahrani Matar A. , Ibrahim Alaa I. , Bashir Shahid , Abuoliat Zainah A. 
Published: April 2021

Abstract
Stroke is the major leading cause of death and severe long-term disability worldwide. The consequences of stroke, aside from diminished survival, have a significant impact on an individual's capability in maintaining self-autonomy and life satisfaction (LS). Thus, this study aimed to assess LS and other specific domains of LS in stroke survivors following their first-ever stroke, and to describe the relationship using socio-demographic and stroke-related variables.
This study recruited 376 stroke survivors (244 men and 132 women, mean age: 57 years) 1 year following stroke. Data on participants’ LS (measured using the Life Satisfaction Questionnaire [LiSat-11]), socio-demographics, and stroke-related variables were collected.
Univariate analysis showed that LS and the 10 specific domains were not associated with the patients’ gender or stroke type; however, age at onset, marital status, and vocational situation were significantly associated with some domains in LiSat-11 (Spearman's rho = 0.42–0.87; all P < 0.05). Logistic regression revealed that verbal and cognitive dysfunction were the most negative predictors of LS (odds ratio 4.1 and 3.7, respectively).
LS is negatively affected in stroke survivors 1 year post onset. The results indicate that recovering social engagement is a positive predictor of higher LS in stroke survivors. More importantly, the findings revealed that cognitive and verbal dysfunctions were the most prominent negative predictors of the overall gross level of LS. Multidisciplinary rehabilitation for stroke survivors is therefore critical.
Low levels of anti-cyclic citrullinated peptide (CCP) 3.1 associated with diseases other than rheumatoid arthritis
Authors: Son James J. , Ishimori Mariko , Mirocha James , Weisman Michael H. , Forbess Lindsy J. 
Published: April 2021

Abstract
Our aim was to investigate the newest generation anti-cyclic citrullinated peptide (CCP) antibody 3.1 assay in diagnosing rheumatoid arthritis (RA) compared with other autoimmune and non-autoimmune diseases. We performed a retrospective observational chart review of patients with a positive CCP level over a one-year period at a single academic institution and assessed the associated diagnoses after at least six-months of follow-up. Of the 281 CCP positive patients during that period, 48% had a diagnosis of RA. The positive predictive value of RA in patients with a high CCP 3.1 assay was 0.619 compared to 0.248 with a low positive CCP 3.1 assay (P < .0001). Overall, there was a lower than expected positive predictive value of CCP 3.1 level with an RA diagnosis, though the likelihood of having an RA diagnosis was higher with a higher CCP level.
Acupoint catgut embedding for the treatment of peptic ulcers
Authors: Yi Xingqian , Wang Li , He Qingying , A Rigun , Le Yimin 
Published: April 2021

Abstract

Background:
Peptic ulcer (PU) is a common clinical disease of the digestive system, which can occur in all ages, gastric and duodenal ulcers are the most commonly seen PUs in clinical practice. The main manifestations are chronic and periodic rhythmic upper abdominal pain, accompanied by indigestion symptoms such as pantothenic acid, belching, and nausea. Serious complications such as bleeding, perforation, obstruction and canceration are easy to occur, endangering the life safety of patients. There are many ways to treat PU in clinic, and acupoint catgut embedding therapy has its unique advantages. Hence, our systematic review aims to evaluate the efficacy and safety of acupoint embedding therapy in the treatment of PU and to provide a reliable basis for physician.

Methods:
We will search electronic databases including PubMed, Embase, Cochrane Library, China National Knowledge Infrastructure (CNKI), Wanfang Database (WF), China Biomedical Literature Database (CBM), and China Scientific Journals Database (VIP) from establishment to April 2021, and will manually searched the list of medical journals as a supplement. Two authors will screen the studies independently, as well as extract data information, and assess methodological quality through the Cochrane risk of bias (ROB) tool. The Stata software (Version 16.0) software will be used for statistical analysis.

Results:
By evaluating the current status of acupoint catgut embedding for Peptic ulcer disease, this study would prove the effectiveness and safety of acupoint embedding therapy, and will be published in a peer-reviewed journal.

Conclusion:
This systematic review will provide a credible evidence-based for acupoint catgut embedding in the treatment of peptic ulcer.

INPLASY Registration number:
INPLASY202130097
Postoperative extremity gangrene in a patient with type 2 diabetes taking SGLT2 inhibitors
Authors: Wong Yun Chin , Liu Kuan-Lin , Lee Chia-Ling 
Published: April 2021

Abstract

Rationale:
Sodium-glucose cotransporter 2 (SGLT2) inhibitors have been approved and marketed since March 2013. The proportion of patients with type 2 diabetes (T2D) taking SGLT2 inhibitors is increasing. The perioperative adverse effects of SGLT2 inhibitors, especially euglycemic diabetic ketoacidosis (euDKA), should be taken into consideration in perioperative patient evaluation in both elective and emergency surgeries.

Patient concerns:
A 57-year-old woman taking SGLT2 inhibitors for T2D developed euDKA after undergoing an emergency orthopedic surgery; the euDKA diagnosis was delayed, thereby causing extremity gangrene.

Diagnoses:
EuDKA was diagnosed based on the presence of strongly positive ketonuria, elevated blood beta-hydroxybutyrate level, and severe metabolic acidosis.

Intervention:
EuDKA was treated with insulin infusion with dextrose solution and intravenous fluid resuscitation.

Outcome:
Due to a delayed diagnosis of euDKA, the patient received a high-dose vasopressor, which led to limb gangrene and amputation 6 months later.

Lessons:
EuDKA is often misdiagnosed due to the absence of hyperglycemia. Serum beta-hydroxybutyrate levels or urinalysis could be used as screening tools for euDKA in patients scheduled for emergency surgery, in order to preoperatively administer rapid fluid resuscitation and insulin infusion with dextrose solution, which should continue postoperatively along with serum beta-hydroxybutyrate monitoring.
Drug-coated balloon angioplasty versus balloon angioplasty for treating patients with in-stent restenosis in the femoropopliteal artery
Authors: Cao Shaobo , He Tao , Xie Jinfeng , Feng Haijun , Liu Kui , Qu Bihui , Wu Xiaoling 
Published: April 2021

Abstract

Background:
The introduction of endovascular surgery has led to frequent stent use, although in-stent restenosis (ISR) remains a challenging issue. Drug-coated balloon (DCB) and conventional balloon angioplasty (BA) are common endovascular procedures for addressing ISR in the femoropopliteal artery. However, there is controversy regarding which procedure provides the greatest benefit to patients.

Methods:
The PubMed, EMBASE, and Cochrane Central Register of Controlled Trials databases were searched for prospective controlled trials that compared DCB and BA for patients with ISR in the femoropopliteal artery. The study has been approved by Ethics Committee of Wuhan Central Hospital.

Results:
The meta-analysis included 6 prospective trials with 541 patients. We found that DCB use was associated with significant reductions in binary restenosis at 6 months (relative risk [RR]: 0.45, 95% confidence interval [CI]: 0.33–0.63; P < .00001), binary restenosis at 1 year (RR: 0.44, 95% CI: 0.34–0.57; P < .00001), target lesion revascularization (TLR) at 6 months (RR: 0.36, 95% CI: 0.20–0.65; P = .0006), and TLR at 1 year (RR: 0.38, 95% CI: 0.27–0.54; P < .00001). The DCB group also had significantly better clinical improvement (RR: 1.39, 95% CI: 1.13–1.71; P = .002), although we did not detect inter-group differences in terms of death, target vessel thrombosis, or ipsilateral amputation. The brand of DCB may a cause of heterogeneity.

Conclusion:
Relative to BA, DCB use increases the durability of treatment for ISR in the femoropopliteal artery, based on significant reductions in binary restenosis and TLR at 6–12 months after the procedure. Furthermore, DCB use was associated with better clinical improvement. However, additional randomized controlled trials are needed to validate these findings.
Current treatment and outcome of esophageal perforation
Authors: Deng Yufeng , Hou Luqi , Qin Dianyue , Huang Ting , Yuan Tianzhu 
Published: April 2021

Abstract

Background:
Esophageal perforation has been one of the serious clinical emergencies, because of the high mortality and complication rates. However, the current prognosis of esophageal perforation and the outcomes of available treatment methods are not well defined. This study attempted to pool the immediate outcomes of esophageal perforation in the past 2 decades.

Methods:
The clinical data of 22 consecutive adult patients with esophageal perforation in our center were analyzed. A pooled analysis was also conducted to summarize results from the literatures published between 1999 and 2020. Studies that met the inclusion criteria were assessed, and their methodological quality was examined.

Results:
The mortality and complication rates in our center were 4.55% and 31.82%, separately. The pooled analysis included 45 studies published between 1999 and 2019, which highlighted an overall immediate mortality rate of 9.86%. Surgical treatments were associated with a pooled immediate mortality of 10.01%, and for conservative treatments of 6.49%. Besides, in the past decade, the mortality and complication rates decreased by 27.12% and 46.75%, respectively.

Conclusions:
In the past 2 decades, the overall immediate mortality rate of esophageal perforation was about 10% in the worldwide, and the outcomes of esophageal perforation treatment are getting better in the last 10 years.

Ethics Registration Information:
LW2020011.
Assessment of cerebrovascular reserve with N-isopropyl-p-[123I]-iodoamphetamine time series analysis in patients with cerebrovascular disease
Authors: Kakuta Kiyohide , Asano Kenichiro , Katayama Kosuke , Ohkuma Hiroki 
Published: April 2021

Abstract
Using N-isopropyl-p-[123I]-iodoamphetamine(123I-IMP) and single-photon emission computed tomography (SPECT), the relationship between cerebrovascular reserve and the 123I-IMP redistribution phenomenon was investigated.
The 50 patients who matched the inclusion criteria were divided into control and ischemia groups, and the redistribution phenomenon was examined on resting images. The delayed images showed higher 123I-IMP accumulation in lesions in the middle cerebral artery(MCA) area and anterior cerebral artery(ACA) area, these watershed areas in the ischemia group than in the control group, confirming that the redistribution phenomenon exists with statistical significance (Wilcoxon test; control group vs ischemic group in the ACA area[P = .002], ACA-MCA watershed area(P = .014), MCA area(P = .025), and MCA-posterior cerebral artery(PCA) watershed area(P = .002). The patients were then divided into 4 types according to the Kuroda grading system, and the difference in the redistribution phenomenon was investigated between type III and the other 3 types.
Compared with type I and type II, type III had a significantly lower rate of decrease in the radioisotope (RI) count, verifying the redistribution phenomenon (Student t test: type I vs type III in the ACA area(P = .008), ACA-MCA watershed area(P = .009), MCA area(P < .001), and MCA-PCA watershed area(P = .002); type II vs type III in the ACA area(P = .004), ACA-MCA watershed area(P = .2575), MCA area(P < .001), and MCA-PCA watershed area(P < .001). No significant difference between type III and type IV was observed in any area [(Student t test: type III vs type IV in the ACA area(P = .07), ACA-MCA watershed area(P = .38), MCA area(P = .05), and MCA-PCA watershed area(P = .24)].
The redistribution phenomenon is associated with resting cerebral blood flow (CBF), but not necessarily with cerebral vascular reactivity (CVR).
Dose–response relationship between working hours and hypertension
Authors: Cheng Hao , Gu Xuan , He Zhenan , Yang Yanqiu 
Published: April 2021

Abstract
Hypertension causes a substantial burden to society. Some studies found that hypertension was associated with the working type and working hours. The purpose of the current study is to assess the dose–response relationship between working hours and hypertension.
Data of 12,080 adults aged 18 to 65 years who attended the China Health and Nutrition Survey (CHNS) between 1989 and 2011 were analyzed. Hypertension was determined based on systolic and/or diastolic blood pressure measures, or having doctor-diagnosed hypertension. Multivariable Cox regression and restricted cubic spline to assess the dose–response relationship between working hours and hypertension.
A total of 12,080 participants including 5852 females and 6228 males. By the last follow-up (2011), a total of 830 participants were hypertensive, with an incidence of 6.9%. After adjusting socio-demographic, lifestyle factors, as well as occupation type, compared with those who worked 35 to 49 hours per week, participants who worked no more than 34 hours per week (HR: 1.21, 95%CI: 1.03–1.41) and at least 56 hours per week (HR: 1.38, 95%CI: 1.19–1.59) had a higher risk of hypertension. The significant association between long working hours (at least 56 hours per week) and hypertension was observed among females (HR: 1.38, 95%CI: 1.16–1.64) and males (HR: 1.36, 95%CI: 1.04–1.78). Among manual workers, the relationship between long working hours and hypertension was observed (HR: 1.49, 95%CI: 1.10–2.02). The relationship between long working hours (HR: 1.21, 95%CI: 1.01–1.44) and short working hours (HR: 1.37, 95%CI: 1.16–1.61) and hypertension was observed among nonmanual workers. The hazard ratio of hypertension and working time displayed U-shape non-linear relationship (P
trend < .001, non-linear P < .001). The non-linear response–dose relationship was found in manual worker, nonmanual worker, and male (P
trend < .001, non-linear P < .001).
The association between working time and hypertension showed U-shape relationship. Specifically, overtime work was an important occupational risk factors for adults, and short work time was related to hazard ratio of hypertension in nonmanual workers.
Comparison of corneal thickness measurements using ultrasound pachymetry, noncontact tonopachy, Pentacam HR, and Fourier-domain OCT
Authors: Kim Jung Sub , Rho Chang Rae , Cho Yeon Woo , Shin Jeongah 
Published: April 2021

Abstract
We retrospectively compared the central corneal thickness (CCT) obtained by ultrasound pachymetry (USP; SP-3000, Tomey Corp., Nagoya, Japan), non-contact tonopachy (TP) (NT-530P, Nidek Co., Ltd., Gamagori, Japan), Pentacam HR (OCULUS Inc., Wetzlar, Germany), and RTVue optical coherence tomography (OCT) (Optovue Inc., Fremont, CA, USA) in 78 eyes of 78 healthy subjects with myopia. Agreement between the measurement methods was evaluated using 95% confidence intervals for the limits of agreement (LoA). The mean CCT values were 546.9 ± 34.7, 548.1 ± 33.5, 559.2 ± 34.0, and 547.2 ± 34.8 μm for USP, non-contact TP, Pentacam, and RTVue, respectively. The thickest and the thinnest mean CCT values corresponded to those obtained by Pentacam HR and USP, respectively. Plots of the differences against the means showed the best agreement between USP and RTVue (LoA, 10.14–10.70 μm), while the largest discrepancy was observed between RTVue and Pentacam systems (LoA, −25.47–1.44 μm). Our data showed that CCT measurements using these 4 instruments were well correlated. However, the results from Pentacam differed significantly from those of the other instruments.
Traditional Chinese medicine in collaboration with conservative conventional medicine for lumbar herniated intervertebral disc
Authors: Kim Hyungsuk , Chung Won-Seok 
Published: April 2021

Abstract

Background:
Lumbar herniated intervertebral disc (LHIVD) is a common disease that causes low back pain. Traditional Chinese medicine (TCM) with conservative conventional treatment is known to be effective at treating LHIVD, but evidence for complex TCM therapies with conventional intervention has not been sufficiently collected to facilitate quality assessment and synthesis of data.

Methods and analysis:
Studies were retrieved from the following databases: the Cochrane Central Register of Controlled Trials, EMBASE, MEDLINE/PubMed, 7 Korean databases (Korean Studies Information Service System, Korean Traditional Knowledge Portal, Oriental Medicine Advanced Searching Integrated System, Korean National Assembly Digital Library, Korean Association of Medical Journal Editors, National Digital Science Library, and Database Periodical Information Academic), Japan Medical Abstracts Society, and Chinese National Knowledge Infrastructure. The risk of bias of the included studies will be assessed using the Cochrane Assessment Tool for Risk of Bias. Eligible studies were quantitatively synthesized through a meta-analysis. The primary outcome will be pain scales, and the secondary outcomes will include range of motion, questionnaires for lumbar function, questionnaire for quality of life, etc.

Ethics and dissemination:
Ethical approval was waived for this study protocol because it does not provide any patient data. The results of this review will be disseminated through peer-reviewed publications.

Registration number:
DOI 10.17605/OSF.IO/K7NJ8 (https://osf.io/k7nj8).