bluuebunny/crossref_metadata_2025_split huggingface dataset:
An innovative emergency transportation scenario for mass casualty incident management
Authors: Lin Ming-Wei , Pan Chih-Long , Wen Jet-Chau , Lee Cheng-Haw , Wu Zong-Ping , Chang Chin-Fu , Chiu Chun-Wen 
Published: March 2021

Abstract
The purpose of this research is to analyze and introduce a new emergency medical service (EMS) transportation scenario, Emergency Medical Regulation Center (EMRC), which is a temporary premise for treating moderate and minor casualties, in the 2015 Formosa Fun Color Dust Party explosion in Taiwan. In this mass casualty incident (MCI), although all emergency medical responses and care can be considered as a golden model in such an MCI, some EMS plans and strategies should be estimated impartially to understand the truth of the successful outcome.
Factors like on-scene triage, apparent prehospital time (appPHT), inhospital time (IHT), and diversion rate were evaluated for the appropriateness of the EMS transportation plan in such cases. The patient diversion risk of inadequate EMS transportation to the first-arrival hospital is detected by the odds ratios (ORs). In this case, the effectiveness of the EMRC scenario is estimated by a decrease in appPHT.
The average appPHTs (in minutes) of mild, moderate, and severe patients are 223.65, 198.37, and 274.55, while the IHT (in minutes) is 18384.25, 63021.14, and 83345.68, respectively. The ORs are: 0.4016 (95% Cl = 0.1032–1.5631), 0.1608 (95% Cl = 0.0743–0.3483), and 4.1343 (95% Cl = 2.3265–7.3468; P < .001), respectively. The appPHT has a 47.61% reduction by employing an EMRC model.
Due to the relatively high appPHT, diversion rate, and OR value in severe patients, the EMS transportation plan is distinct from a prevalent response and develops adaptive weaknesses of MCIs in current disaster management. Application of the EMRC scenario reduces the appPHT and alleviates the surge pressure upon emergency departments in an MCI.
Cytochrome P450 2C19 enzyme, Cytochrome P450 2C9 enzyme, and Cytochrome P450 2D6 enzyme allelic variants and its possible effect on drug metabolism
Authors: Naujokaitis Domas , Asmoniene Virginija , Kadusevicius Edmundas 
Published: March 2021

Abstract
The objective of the present study was to assess the allelic variations of Cytochrome P450 (CYP) enzymes Cytochrome P450 2C19 (CYP2C19), Cytochrome P450 2C9 (CYP2C9), and Cytochrome P450 2D6 (CYP2D6) as they play a major role in drug metabolism. The interindividual genetic variabilities of these enzymes can account for different responsiveness as well as concentration fluctuations for a particular drug.
During the period of 2017 to 2018 a total of 54 patients have received pharmacogenetic testing at the Department of Genetics and Molecular Medicine at Kaunas Clinics. According to the genotype-metabolic phenotypes of CYP2C19, CYP2D6, CYP2C9 enzymes patients were classified according to the guidelines by Clinical Pharmacogenetics Implementation Consortium (CPIC): normal metabolizers (NMs), intermediate metabolizers (IMs), rapid metabolizers (RMs), ultrarapid metabolizers (UMs), and poor metabolizers (PMs).
CYP2C19 enzyme allelic distribution: 18 patients (33.33%) with ∗1/∗1 genotype were NMs; 14 patients (25.93%) with ∗1/∗2; ∗2/∗17 genotypes were classified as IMs; 15 patients (27.78%) possessed ∗1/∗17 genotype and were RMs; 4 patients (7.4%) had ∗17/∗17 genotype with increased enzyme activity compared with RMs, were classified as UMs; 3 patients (5.56%) had ∗2/∗2 genotype and were marked as PMs. CYP2D6 enzyme allelic distribution: 26 patients (48.148%) contained ∗1/∗1,∗2/∗2,∗1/∗2,∗1/∗41,∗2/∗41 genotypes with normal enzymatic function so were accounted as NMs; 21 patients (38.89%) with ∗1/∗5, ∗2/∗4, ∗10/∗41, ∗1/∗4, ∗1/∗3, ∗2/∗5, ∗2/∗4, ∗2/∗6 genotypes were accounted as IMs; 2 patients (3.7%) possessed ∗2XN genotype and were accounted as UMs and 5 patients (9.26%) possessed ∗4/∗5,∗4/∗10,∗4/∗9,∗4/∗41 genotypes and had non-functional enzymatic activity so were accounted as PMs; CYP2C9 enzyme allelic distribution: 44 patients (81.48%) with∗1/∗1 genotype were NMs; 10 patients (18.52%) with ∗1/∗2;∗1/∗3 genotypes were IMs.
The results of our study indicate that deviations from the normal enzymatic activity is common amongst Lithuanian people and combinatory genotyping of CYP2D6, CYP2C9, and CYP2C19 has to be promoted as an advanced method because of most commonly prescribed medicines like analgesics, antihypertensive, antidepressants are metabolized by multiple pathways involving enzymes in the CYP450 family.
Integration of summary data from GWAS and eQTL studies identified novel risk genes for coronary artery disease
Authors: Zhong Yigang , Chen Liuying , Li Jingjing , Yao Yinghao , Liu Qiang , Niu Kaimeng , Ma Yunlong , Xu Yizhou 
Published: March 2021

Abstract
Several genetic loci have been reported to be significantly associated with coronary artery disease (CAD) by multiple genome-wide association studies (GWAS). Nevertheless, the biological and functional effects of these genetic variants on CAD remain largely equivocal. In the current study, we performed an integrative genomics analysis by integrating large-scale GWAS data (N = 459,534) and 2 independent expression quantitative trait loci (eQTL) datasets (N = 1890) to determine whether CAD-associated risk single nucleotide polymorphisms (SNPs) exert regulatory effects on gene expression. By using Sherlock Bayesian, MAGMA gene-based, multidimensional scaling (MDS), functional enrichment, and in silico permutation analyses for independent technical and biological replications, we highlighted 4 susceptible genes (CHCHD1, TUBG1, LY6G6C, and MRPS17) associated with CAD risk. Based on the protein–protein interaction (PPI) network analysis, these 4 genes were found to interact with each other. We detected a remarkably altered co-expression pattern among these 4 genes between CAD patients and controls. In addition, 3 genes of CHCHD1 (P = .0013), TUBG1 (P = .004), and LY6G6C (P = .038) showed significantly different expressions between CAD patients and controls. Together, we provide evidence to support that these identified genes such as CHCHD1 and TUBG1 are indicative factors of CAD.
Ultrasound, electromyography, and balloon guidance for injecting botulinum toxin for cricopharyngeal achalasia
Authors: Chen Jian-Min , Chen Yang-Jia , Ni Jun , Wang Zhi-Yong 
Published: March 2021

Abstract

Introduction:
Botulinum toxin (BTX) injection is a widely used treatment option for dysphagia associated with cricopharyngeal (CP) muscle achalasia, but uniform standards and protocols for administration techniques and injection sites are still lacking. This case study suggests that a unique administration technique involving a combination of ultrasound, electromyography, and balloon guidance for injecting the CP muscle can reduce inadvertent migration of BTX to non-injected tissues and increase the effectiveness and safety of BTX treatment.

Patient concerns:
We describe the case of a 74-year-old man who could not swallow food or saliva for 8 months.

Diagnosis:
The patient showed signs of true bulbar paralysis, including dizziness, hoarseness, and dysphagia. The fiberoptic endoscopic evaluation of swallowing showed massive mucilage secretion and residual materials in the postcricoid region and aspiration when swallowing 1 ml of yogurt. The video fluoroscopic swallowing study showed profoundly limited epiglottic folding and CP muscle non-relaxation, despite several unsuccessful swallow attempts.

Interventions:
To manage insufficient relaxation opening of the CP muscle, BTX injection was performed using ultrasound, electromyography, and balloon catheter guidance. The narrow CP muscle situated above the balloon was identified as the target of injection by ultrasound.

Outcomes:
The patient was able to eat a soft diet. The follow-up fibrotic endoscopic swallowing study demonstrated a reduction in the amount of pharyngeal residue. The video fluoroscopic swallowing study showed that CP muscle relaxation was significantly enhanced and no penetration was shown.

Conclusion:
The unique administration technique with triple guidance holds several advantages, suggesting that it may be a promising treatment for CP muscle achalasia.
Pheochromocytoma-related cardiomyopathy presenting as acute myocardial infarction
Authors: Jiang Xuandong , Zhang Weimin , Fang Qiang 
Published: March 2021

Abstract

Introduction:
Pheochromocytoma (PHEO)-related cardiomyopathy is a rare condition in which release of a large amount of catecholamines leads to severe vasoconstriction, coronary vasospasm, myocardial ischemia, injury, and necrosis. Its clinical manifestations can be similar to those of acute coronary syndrome.

Patient concerns:
A 63-year-old woman was diagnosed with acute non-ST segment elevation myocardial infarction following chest pain for 8 hours. The results of coronary angiography were normal. The patient developed dyspnea, cough with frothy pink sputum, paroxysmal sweating, arrhythmia, and blood pressure fluctuation, and was transferred to the intensive care unit for monitoring and treatment.

Diagnosis:
PHEO, catecholamine cardiomyopathy (CICMP)

Intervention:
After monitoring the pulse index continuous cardiac output and treatment with α and β adrenergic receptor blockers for 18 days, laparoscopic resection of the left adrenal mass was performed.

Outcomes:
The patient's condition improved and she was discharged 31 days after admission. Outpatient follow-up examinations 1 month and 1 year later did not show recurrence.

Lessons:
PHEO can cause CICMP, the manifestations of which are partly similar to those of takotsubo cardiomyopathy (TTC). Once the patient's condition stabilizes, surgery should be considered. Fluid management is necessary, and agents such as α and β adrenergic receptor blockers should be administered.
Atypical hemolytic uremic syndrome and acute tubular necrosis induced by complement factor B gene (CFB) mutation
Authors: Wu Hao , Su Sensen , Li Lin , Zhang Li 
Published: March 2021

Abstract

Rationale:
Atypical hemolytic uremic syndrome (aHUS) is an uncommon and serious disease that manifests hemolytic anemia, thrombocytopenia, and acute kidney injury. Genetic complement abnormalities have been shown to be responsible. Compared with the aHUS caused by other mutated genes, aHUS secondary to CFB mutation in adults is extremely rare. We report an adult with CFB mutation developing aHUS.

Patient concerns:
A 56-year-old man was admitted for 4-day history of nausea and fatigue, anuria for 2 days, and unconsciousness for 10 hours.

Diagnoses:
The patient presented with life-threatening anemia, thrombocytopenia, acute kidney injury, and nervous system abnormalities. The patient had schistocytes on the peripheral blood smear, increased lactate dehydrogenase (LDH), and plasma-free hemoglobin levels. The patient was later found to harbor a pathogenic variant in the CFB gene (C.1598A>G), and was diagnosed with aHUS and acute kidney injury.

Intervention:
The patient was treated by plasmapheresis, continuous renal replacement therapy, blood transfusion, and anti-infective and antihypertensive treatment.

Outcomes:
After the treatment, the patient's consciousness returned to normal, and the hemoglobin, platelet, and serum creatinine recovered. The disease activity remained quiescent during the follow-up.

Lessons:
A rare heterozygous variant c.1598A>G p.Lys 533Arg in the CFB gene, which was associated with adult-onset aHUS, was described and successfully treated. This case can help in understanding the early diagnosis and effective therapies of this rare disease.
Penis as a primary site of an extraskeletal Ewing sarcoma
Authors: Krakorova Dagmar Adamkova , Halamkova Jana , Tucek Stepan , Bilek Ondrej , Kristek Jan , Kazda Tomas , Zambo Iva Staniczkova , Demlova Regina , Kiss Igor 
Published: March 2021

Abstract

Rationale:
The Ewing sarcoma family of malignant tumors is a group of tumors characterized by morphologically similar round-cell neoplasms and by the presence of a common chromosomal translocation; Ewing sarcoma family of tumors typically occur in children and young adults between 4 to 15 years of age. The primary tumor usually originates in the bone, extraskeletal localization is rare.

Patient concern:
We present a case report concerning a 32-year-old male patient with a primary involvement of the penis.

Diagnosis:
The histopathology from the first penile biopsy showed a small-cell neuroendocrine carcinoma; however, that result was based on a sample obtained at a different facility than the Sarcoma Center, where the investigating pathologist did not have the adequate expertise. The patient then underwent a radical penectomy and a second reading of the histology was demanded after a radical penile amputation when Ewing sarcoma with R1 resection was confirmed.

Interventions:
The patient was referred to the national Sarcoma Center, where – using a multidisciplinary approach – the treatment was started with curative intent. However, it was preceded by a non-standard initiation of the therapy due to the poor primary diagnosis.

Outcomes:
The non-standard therapy at the onset of the disease caused a poor prognosis of an otherwise curable diagnosis. Despite all that, the patient survived for a relatively long time.

Lessons:
The treatment of sarcomas with atypical localizations should be conducted by an experienced multidisciplinary team in a center with experience in sarcoma treatment.
The efficacy and safety of Kuntai capsule combined with leuprorelin acetate in the treatment of endometriosis
Authors: Zhang Shuzhen , Wang Lei , Zhang Jing , An Wei , Jia Li 
Published: March 2021

Abstract

Background:
Endometriosis (EMS) is one of the common diseases in women, which seriously affects the quality of life of women. Leuprorelin acetate can control the development of EMS, but long-term use can cause perimenopausal symptoms in women. Clinical studies have shown that Kuntai capsule combined with leuprorelin acetate is effective in the treatment of EMS, which can relieve perimenopausal symptoms, but it lacks of evidence-based medical evidence. Therefore, this study aims to systematically evaluate the efficacy and safety of Kuntai capsule combined with leuprorelin acetate in the treatment of EMS.

Methods:
CNKI, VIP, Wanfang, Chinese Biomedical Literature Database, PubMed, The Cochrance Library, Embase, Web of Science, and other databases were searched by computer to collect randomized controlled trials of Kuntai capsule combined with leuprorelin acetate in the treatment of EMS. The retrieval time was from the establishment of the database to February 2021. Two researchers screened the literatures and extracted the data and meta-analysis was performed using RevMan 5.3 software.

Results:
This study evaluated the efficacy and safety of Kuntai capsule combined with leuprorelin acetate in the treatment of EMS by clinical effective rate, serum sex hormone levels estradiol, follicle-stimulating hormone, luteinizing hormone, visual analogue scale, Kupperman score and incidence of adverse reactions.

Conclusion:
This study will provide reliable evidence-based evidence for the clinical application of Kuntai capsule combined with leuprorelin acetate in the treatment of EMS.

Ethics and dissemination:
Private information from individuals will not be published. This systematic review also does not involve endangering participant rights. Ethical approval will not be required. The results may be published in a peer-reviewed journal or disseminated at relevant conferences.

OSF Registration number:
DOI 10.17605/OSF.IO/AZU47
The effect of dance-based mind-motor activities on the quality of life in the patients recovering from COVID-19
Authors: Ding Yi , Guo Chenchen , Yu Shaohong , Zhang Peng , Feng Ziyun , Sun Jinglong , Meng Xiangxia , Li Li , Zhuang He 
Published: March 2021

Abstract

Background:
Since the outbreak of coronavirus disease 2019 (COVID-19), with the improvement of diagnosis and treatment level in various countries, more and more patients have been discharged after systematic treatment. In order to effectively promote the overall recovery of patients’ physical and mental function and quality of life (QOL), the focus of clinical work should be gradually shifted to rehabilitation treatment. Dance-based mind-motor activities were defined as coordinated upright mind-motor movements that emphasize dynamic balance, structured through music or an inner rhythm (e.g., breathing) and distinctive instructions or choreography, and that involve social interaction. It has positive effects on motor function, lung function, psychological mood and other aspects, so it can be used as a safe alternative therapy for patients recovering from COVID-19. At present, there are no relevant articles for systematic review.

Methods:
From its inception until March 2021, we will conduct a comprehensive electronic search, including Cochrane Library, MEDLINE, PubMed, Springer, EMBASE, Chinese Science Citation Database, China National Knowledge Infrastructure, Chinese Biomedical Literature Database, Chinese Scientific Journal Database, Wan-fang database. Two independent researchers will conduct article retrieval, screening, quality assessment, and data analysis through the Review Manager (V. 5.3.5).

Results:
The results of this study will evaluate the effectiveness and safety of dance-based mind-motor activities for the improvement of QOL in COVID-19 patients during the recovery period.

Conclusion:
The conclusion of the study will provide an evidence to judge whether dance-based mind-motor activities is effective and safe for COVID-19 in recovery period.

Ethics and dissemination:
This protocol will not evaluate individual patient information or infringe patient rights and therefore does not require ethical approval.

PROSPERO registration number:
CRD42021232995.
Evaluation of ustekinumab trough levels during induction and maintenance therapy with regard to disease activity status in difficult to treat Crohn disease patients
Authors: Mechie Nicolae-Catalin , Burmester Merle , Mavropoulou Eirini , Pilavakis Yiannis , Kunsch Steffen , Ellenrieder Volker , Amanzada Ahmad 
Published: March 2021

Abstract
Ustekinumab (UST) is approved for the treatment of moderate and severe Crohn disease (CD). Therapeutic drug monitoring (TDM) can help monitor the therapeutic effects of biologics. Therefore, the aim of this study was to evaluate the clinical outcomes of UST-treated CD patients and to determine the UST trough level in clinical and corticosteroid-free remission.
This retrospective study included patients with moderate and severe active disease (AD) treated intravenously with a weight-adapted induction dose of UST. The maintenance therapy consisted of 90 mg UST subcutaneously at week 8 and thereafter every 8 or 12 weeks, depending on the clinical response. Clinical and corticosteroid-free remission, Harvey-Bradshaw-Index (HBI), UST trough level, and further laboratory parameters were measured just before the injection of UST at each follow-up evaluation until week 40.
37 CD patients with a median HBI of 9 at week 0 were included in the study. Starting from 24% at the beginning of the monitoring period, and 38% of patients at the end of the monitoring period were treated with an 8-week interval (P = .18). There was a significant improvement in clinical (P = .0004), corticosteroid-free remission (P = .03), and HBI (P < .0001) from week 0 until the end of the observation period. The serum UST trough level decreased significantly from 2.0 at week 8 to 0.3, in the maintenance therapy and 0.4 μg/ml at the end of the therapy (P < .0001). Neither UST trough level nor levels of C-reactive protein (CRP) or fecal calprotectin (FC) were associated with disease outcome. Concomitant immunomodulator therapy did not appear to affect the UST trough level or clinical course.
UST is an effective treatment option for difficult-to-treat patients with CD. UST trough levels may not be associated with treatment efficacy or the prediction of treatment outcomes in patients with CD. Further prospective randomized trials should be conducted to evaluate whether UST trough levels are associated with treatment outcomes in patients with CD.
Association between lncRNA ANRIL genetic variants with the susceptibility to ischemic stroke
Authors: Wang Qianwen , Zhao Jingjing , Chang Hongtao , Liu Xu , Zhu Ruixia 
Published: March 2021

Abstract

Background:
Recent studies have reported that lncRNA (long noncoding RNAs) antisense non-coding RNA in the INK4 locus (ANRIL) plays important roles in the development of atherosclerosis through regulating cell apoptosis, proliferation, and adhesion. GWAS (genome-wide association studies) identified common genetic variants within ANRIL could confer risk of ischemic stroke (IS) in southern Sweden.

Methods:
We performed a case-control study, including 567 IS patients and 552 healthy controls from unrelated northern Chinese Han population, aiming to explore the association between lncRNA ANRIL rs2383207, rs4977574 polymorphisms and the risk of IS. Subsequently we implemented a meta-analysis to further assess the relationship of these variants and the disease.

Results:
In our case-control study, no significant associations were observed in all models between above 2 polymorphisms and IS. Next in our subgroup analysis, we detected significant association between GA genotype of rs4977574 and the increased risk of LAA-IS (large-artery atherosclerotic ischemic stroke), similar elevated risk also appeared in the GG + GA genotype under the dominant model (P = .048, OR = 1.385, 95% CIs 1.002–1.914; P = .040, OR = 1.378, 95% CIs 1.015–1.872, respectively). As for rs2383207, negative results were obtained under all models and subgroups. Our meta-analysis showed a significant association between rs4977574 polymorphism and IS risk in allele model (G vs A P = .002, OR = 1.137, 95% CIs 1.048–1.234); with respect to rs2383207 polymorphism, no significant association between that and the risk of IS was detected under the dominant model (GA + AA vs GG, P = .061, OR = 0.923, 95% CIs 0.849–1.004), or recessive model (AA vs GA + GG, P = .656, OR = 0.972, 95% CIs 0.858–1.101), or allele model (A vs G, P = .326, OR = 0.952, 95% CIs 0.863–1.050). Likewise, no significant association between rs2383207 and IS was found in different stoke subtypes (P > .05).

Conclusions:
Our findings indicated G allele of lncRNA ANRIL rs4977574 could increase the risk of IS, and the variant may be associated with susceptibility to LAA-IS in Chinese Han population.