bluuebunny/crossref_metadata_2025_split huggingface dataset:
Spinal epidural involvement in adult Langerhans cell histiocytosis (LCH)
Authors: Lim Cheong-Su , Cho Jae Hwan 
Published: January 2020

Abstract

Rationale:
Spinal involvement in adult Langerhans cell histiocytosis (LCH) is rare, and epidural involvement is unusual. LCH is mostly indistinguishable from other spinal lesions such as infection, lymphoma, and metastasis. So, it could be easily misdiagnosed without suspicion.

Patient concerns:
We report a case of a 33-year-old man who complained of gait disturbance with weakness in both legs and severe back pain.

Diagnoses:
A continuous enhancing epidural lesion with cord compression from the T7 to L1 level was detected in magnetic resonance imaging. Laboratory analysis indicated the possibility of spinal infectious disease. We assumed that the lesion could be tuberculous spondylitis.

Interventions and outcomes:
The patient underwent posterior laminectomy with marginal excision of the epidural mass to relieve cord compression. Pathological examination confirmed the diagnosis of LCH. The 12-month follow-up evaluation revealed that the patient was neurologically intact and had no gait disturbance.

Lessons:
This case report presents a patient with epidural LCH of the thoracic spinal cord, which can mimic spinal infections such as tuberculous spondylitis with abscess formation. Therefore, LCH could be considered as a possible diagnosis when a patient presents with features of infectious spondylitis with vertebral involvement.
A case report of paravertebral low-grade malignant fibrous myxoid sarcoma
Authors: Zhao Ming-Ming , Li Chen-Si , Jun-Wang  , Cheng Yuan-Pei , Zhao Dong-Xu 
Published: January 2020

Abstract

Rationale:
Low-grade malignant fibrous myxoid sarcoma (LGFMS) is a malignant tumor that originates from soft tissues and has specific clinical and histopathological characteristics. Paravertebral LGFMS is rarely reported.

Patient concerns:
A 60-year-old woman had pain in the lower back and right anterior thigh for more than 3 years.

Diagnosis:
Paravertebral LGFMS.

Interventions:
Tumor resection, vertebral canal decompression and pedicle screw fixation.

Outcomes:
The tumor was excised, and the vertebral arch was fixed with pedicle screws at the root. Chemoradiotherapy was not performed. Her postoperative visual analogue scale (VAS) score decreased from 7 points at admission to 2 points at follow-up. The patient was discharged at postoperative day 13, and no recurrence was observed at the 6-month follow-up.

Lessons:
Although LGFMS is rare, it should be considered in differential diagnosis of other soft tissue tumors to avoid misdiagnosis and inappropriate treatment.
Radiotherapy with apatinib for recurrence of malignant phyllodes tumor of the breast
Authors: Wu Hong , Li Lei , Yang Jing , Guo Chen , Zhang Weiming , Wang Hui 
Published: January 2020

Abstract

Rationale:
Malignant phyllodes tumors of the breast are rare, and there are currently no guidelines and a large number of clinical trials to guide the treatment of recurrence tumor. Here we reported a case of radiotherapy with apatinib for the treatment of recurrent malignant phyllodes tumor of the breast.

Patient concerns:
A 58-year-old patient with massive breast mass was admitted to our hospital. Two months after surgical treatment, the tumor recurred in the chest wall scar.

Diagnoses:
The histopathologic diagnoses was right breast malignant phyllodes tumor with chondrosarcomas and osteosarcomas in some areas.

Interventions:
The patient was first treated with surgery. Malignant phyllodes tumor recurred in the chest wall two months after surgery and was treated with radiotherapy and apatinib.

Outcomes:
With surgery, radiotherapy and apatinib treatment, the patient still died within several months.

Lessons:
Apatinib and radiotherapy failed to obtain good therapeutic effect in the recurrence of breast malignant phyllodes tumor in this case.
Rs10757274 gene polymorphisms in coronary artery disease
Authors: Xu Lang-Biao , Zhang Yi-Qing , Zhang Nan-Nan , Li Biao , Weng Jia-Yi , Li Xiao-Yang , Lu Wen-Chao , Yu Pei-Ran , Wang Xi , Li Yuan , Han Zhen , Chen Lu , He Hong-Tao , Zhou Ya-Feng , Ma Xue-Xing , Xu Gui-Dong 
Published: January 2020

Abstract

Background:
It has been reported the rs10757274 SNP (present on locus 9p21 in the gene for CDKN2BAS1) might be associated with susceptibility to coronary artery disease (CAD). Owing to mixed and inconclusive results, we conducted a meta-analysis to investigate the association between rs10757274 polymorphism and the risk of CAD.

Objectives:
The present study aimed to investigate the relationship between rs10757274 polymorphism and the risk of CAD.

Methods:
All studies of the rs10757274 SNP with CAD that were published between 2007 and 2018 were retrieved from the PubMed database. Meta-analysis was performed with Stata 14.0 software. The effect size of the rs10757274 SNP with CAD risk was assessed based on the odds ratios (ORs) with calculation of 95% confidence interval (CI).

Results:
Eleven studies including 52,209 subjects (cases: 7990, controls: 44,219) were included in the final data combination. Pooled overall analyses showed that rs10757274 (allele model: P < .001; dominant model: P < .001; recessive model: P < .001; Heterozygote codominant: P = .002; Homozygote codominant: P < .001) polymorphisms were significantly associated with the likelihood of CAD. Significant heterogeneity between individual studies appears in all 5 models. Further subgroup analyses revealed that rs10757274 polymorphisms were all significantly correlated with the likelihood of CAD and no heterogeneity were observed in West Asians.

Conclusions:
Our findings indicated that rs10757274 polymorphisms may serve as genetic biomarkers of CAD, especially in West Asians.
Efficacy and safety of platelet-rich plasma for the treatment of thin endometrium
Authors: Du Juan , Lu Hua , Yu Xujun , Lü Zili , Mi Ling , Zhang Xiaojin 
Published: January 2020

Abstract

Background:
Endometrial thickness has been identified as a prognostic factor for pregnancy rate for patients with female infertility. Thin endometrium is defined as <7 mm on the day of ovulation, or on the day of human chorionic gonadotrophin (HCG) injection in fresh in vitro fertilization (IVF) cycles, or the day to start progesterone in frozen-thaw embryo transfer cycles, as stated in the guideline of thin endometrium from the Canadin Fertility and Andrology Society and Chinese expert consensus from the Society of Reproductive Medicine, Chinese Medical Association. Many medicines are used for improving the endometrial thickness and embryo implantation rate of the patients with thin endometirum, but thin endometrium remains a major troublesome clinical problem with limited efficacy.
Platelet-rich plasma (PRP), as a growing and robust therapeutic option in musculoskeletal medicine, is a preparation of autologous plasma with a high concentration of platelets, and the therapeutic mechanism is based on the capacity to supply supra physiologic amounts of essential growth factors to provide a regenerative stimulus for promoting repair in tissues with low healing potential. Some randomized controlled trials have reported the application of PRP for patients with thin endometrium with satisfactory effect. However, there is no systematic review on efficacy and safety of PRP as a treatment of thin endometrium.

Methods:
The data and information will be retrieved from the databases of MEDLINE, Embase, Web of Science, Clinicaltrials.org., Cochrane Library, China Biology Medicine Database, Wan Fang Database, China National Knowledge Infrastructure Database, VIP Science Technology Periodical Database, and OpenGrey for gray literature. The randomized controlled clinical trials are going to be selected before December 20, 2019, in English or Chinese language, with the search terms including “thin endometrium,”“platelet-rich plasma,” “endometrial thickness,” “hemorheology of endometrium,” “pregnancy rate,” and “adverse reactions.” RevMan 5.3 will be used for systematic review and meta-analysis. This protocol will be reported according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses Protocols (PRISMA-P) statement, and the systematic review will be reported with the PRISMA statement.

Results and conclusion:
The efficacy and safety of PRP for the treatment of thin endometrium will be evaluated, and the conclusion will be published to provide medical evidence for a better clinical decision of patients with thin endometirum.
Comparative Study Evaluating Lumen Apposing Metal Stents Versus Double Pigtail Plastic Stents for Treatment of Walled-Off Necrosis
Authors: Ge Phillip S. , Young Joyce Y. , Jirapinyo Pichamol , Dong William , Ryou Marvin , Thompson Christopher C. 
Published: January 2020

Objectives
Lumen-apposing metal stents (LAMSs) are increasingly used for direct endoscopic necrosectomy (DEN) in the management of walled-off necrosis (WON). We compared LAMS and traditional cystoenterostomy in the management of WON.

Methods
Retrospective analysis of patients who underwent DEN for management of WON was performed. Primary outcome was rate of WON resolution. Secondary outcomes included technical and clinical success, time and number of procedures until resolution, requirement for alternative therapy, recurrence, and adverse events.

Results
One hundred twelve patients underwent DEN with LAMS (n = 34) or traditional cystoenterostomy (n = 78). Mean WON size was 90.2 × 60.1 mm, and 61.8% had infected necrosis. Overall WON resolution was similar between LAMS and traditional cystoenterostomy (94.1% vs 92.1%, P = 0.510), with similar number of procedures until resolution (1.5 vs 1.5, P = 0.871). The LAMSs were associated with faster resolution (86.9 vs 133.6 days, P = 0.038), lower recurrence (6.3% vs 23.1%, P = 0.032), and decreased requirement for surgery (0% vs 12.8%, P = 0.031) compared with traditional cystoenterostomy, but higher adverse event rates (41.2% vs 7.7%, P < 0.001).

Conclusions
Despite higher adverse event rates, initial LAMS cystoenterostomy for management of WON results in faster resolution, lower recurrence, and decreased requirement for surgery.
Fingertip Replantation Using Artery-Only Anastomosis With a Pulp Tissue Reduction Method
Authors: Nakajima Yuta , Iwasawa Motonao , Mishima Yoshito , Yuzuriha Shunsuke 
Published: January 2020

Background
In fingertip replantation with arterial anastomosis alone, many external bleeding techniques have been described to satisfy venous outflow, and some patients require blood transfusions. We used a pulp tissue reduction method to avoid the need for external bleeding techniques and blood transfusions.

Methods
We examined 18 fingers in cases of Ishikawa's subzone II, III, and IV amputation that were replanted with artery-only anastomosis and pulp tissue reduction from April 2003 to March 2018. The method consisted of pulp tissue reduction to the level of the fingerprint core, bone fixation without gaps to promote venous drainage through bone marrow, and pinprick testing twice a day. Prostaglandin E1 and/or urokinase were administered intravenously, but no other anticoagulants were used systemically or locally. Postoperatively, only the pinprick test was performed twice a day for 5 days.

Results
The patients ranged in age from 26 to 74 years (mean, 47 years). There were 13 men and 5 women. The total success rate was 89% (16/18). Of the 2 salvage failures, one was due to venous congestion and the other was due to arterial insufficiency. The survival rates of Ishikawa's subzone II, III, and IV amputation were 100% (4/4), 71% (5/7), and 100% (7/7), respectively. No blood transfusions were required in any of the cases. The Semmes-Weinstein test was performed for 14 of 18 fingers: the result was blue in 11 fingers and purple in 3 fingers.

Conclusions
The pulp tissue reduction method resulted in a high success rate without the need for external bleeding or blood transfusions. Fingertip replantation with artery-only anastomosis, a pulp tissue reduction method, is effective for replant survival when subcutaneous venous repair is impossible because a reduced pulp volume may facilitate replant survival under conditions of irregular venous drainage, such as bone marrow drainage.
Mortality, disease progression, and disease burden of acute kidney injury in alcohol use disorder subpopulation
Authors: Le Sidney , Green-Saxena Abigail , Maharjan Jenish , Khattar Manan , Calvert Jacob , Pellegrini Emily , Hoffman Jana , Das Ritankar 
Published: January 2020

ABSTRACTObjectiveThe objective of this study is to quantify the relationship between acute kidney injury (AKI) and alcohol use disorder (AUD), in terms of disease burden, mortality burden and disease progression.MethodsWe used the University of California, San Francisco Medical Center in San Francisco, CA (UCSF) and Medical Information Mart for Intensive Care (MIMIC-III) databases to quantify AKI disease and mortality burden as well as AKI disease progression in the AUD and non-AUD subpopulations. We used the MIMIC-III dataset to compare two different methods of encoding AKI: ICD-9 codes, and the 2012 Kidney Disease: Improving Global Outcomes scheme (KDIGO). In addition to the AUD subpopulation (defined by AUD-related ICD-9 codes), we also present analysis for the hepatorenal syndrome (HRS) and alcohol-related cirrhosis subpopulations identified via ICD-9 coding.ResultsIn both the ICD-9 and KDIGO encodings of AKI, the AUD subpopulation had a higher prevalence of AKI (ICD-9: 48.59% vs. 29.99% AKI in the non-AUD subpopulations; KDIGO: 39.84% vs. 27.99%) in the MIMIC-III dataset. In the UCSF dataset, the AUD subpopulation also had a higher prevalence of AKI than the non-AUD subpopulation (ICD-9: 48.60% vs. 8.45%). The mortality rate of the subpopulation with both AKI and an AUD-related condition (AUD, HRS, or alcohol-related cirrhosis) was consistently higher than that of the subpopulation with only AKI in both datasets after adjusting for disease severity using two methods of severity estimation in the MIMIC-III dataset. Disease progression rates were similar for AUD and non-AUD subpopulations.ConclusionsOur work using the UCSF multi-ward academic hospital data and the MIMIC-III ICU dataset shows that the AUD patient subpopulation had a higher number of AKI patients than the non-AUD subpopulation, and that patients with both AKI and either AUD, HRS, or alcohol-related cirrhosis were shown to have higher rates of mortality than the non-AUD subpopulation with AKI.Trial RegistrationNot applicable.
Colonoscopy and reduction of colorectal cancer risk by molecular tumor subtypes: a population-based case-control study
Authors: Hoffmeister Michael , Bläker Hendrik , Jansen Lina , Alwers Elizabeth , Amitay Efrat L. , Carr Prudence R. , Kloor Matthias , Herpel Esther , Roth Wilfried , Chang-Claude Jenny , Brenner Hermann 
Published: January 2020

AbstractObjectiveIn previous studies, the protective effect of colonoscopy was generally stronger for distal than for proximal colorectal cancer (CRC). This study aimed to investigate whether the association of colonoscopy and CRC risk varies according to major molecular pathological features and pathways of CRC.DesignPopulation-based case-control study from Germany, including 2132 patients with a first diagnosis of CRC and information on major molecular tumor markers, and 2486 control participants without CRC. Detailed participant characteristics were collected by standardized questionnaires and information on previous colonoscopy was derived from medical records. Polytomous logistic regression was used to calculate adjusted odds ratios (ORs) and 95% confidence intervals (95% CI) for the association between previous colonoscopy and subtypes of CRC.ResultsOverall, we observed strong risk reduction of CRC after colonoscopy that was weaker for microsatellite instable (MSI) than for non-MSI CRC (p for heterogeneity <0.01), for CpG island methylator phenotype (CIMP) high CRC than for CIMP low/negative CRC (p het<0.01), for BRAF-mutated than for BRAF non-mutated CRC (p het=0.01), for KRAS non-mutated than for KRAS-mutated CRC (p het=0.04), and for CRC classified into the sessile serrated pathway than for CRC of the traditional pathway (p het<0.01). After colonoscopy with detection of adenomas, no risk reduction was found for sessile serrated pathway CRC.ConclusionOur study extends the molecular understanding of existing differences in risk reduction of proximal and distal CRC reported by previous studies, and may imply important information for improving strategies for timely detection of relevant precursors.Summary BoxWhat is already known about this subject?Colonoscopy is an effective tool not only for early detection but also for prevention of colorectal cancer.In previous studies, risk reduction after colonoscopy was generally stronger for cancer of the distal colon and rectum than for cancer of the proximal colon.What are the new findings?This observational study found variation of colorectal cancer risk reduction after colonoscopy according to major molecular subtypes characteristic of the proximal colon (MSI, CIMP-high, BRAF mutation), and for colorectal cancer potentially developing via the sessile serrated pathway.How might it impact on clinical practice in the foreseeable future?This study contributes to the identification of molecular characteristics and associated phenotypes of potentially missed or more aggressive precursors.The study provides important information for improving strategies for a timely detection of relevant precursors at colonoscopy.
metPropagate: network-guided propagation of metabolomic information for prioritization of neurometabolic disease genes
Authors: Graham Emma , Richmond Phillip A , Tarailo-Graovac Maja , Engelke Udo , Kluijtmans Leo A.J. , Coene Karlien L.M , Wevers Ron A. , Wasserman Wyeth , van Karnebeek Clara D.M. , Mostafavi Sara 
Published: January 2020

ABSTRACTMany inborn errors of metabolism (IEMs) are amenable to treatment, therefore early diagnosis before irreversible damage occurs is imperative. Despite recent advances, the genetic basis of many metabolic phenotypes remains unknown. For discovery purposes, Whole Exome Sequencing (WES) variant prioritization coupled with phenotype-guided clinical and bioinformatics expertise is currently the primary method used to identify novel disease-causing variants; however, it can be challenging to identify the causal candidate gene given the large number of plausible variants. Using untargeted metabolomics (UM) to prioritize metabolically relevant candidate genes is a promising approach to diagnosing known or novel IEMs in a single patient. Here, we present a network-based bioinformatics approach, metPropagate, that uses UM data from a single patient and a group of controls to prioritize candidate genes. We validate metProp on 107 patients with diagnosed IEMs and 11 patients with novel IEMs diagnosed through the TIDE gene discovery project at BC Children’s Hospital. The metPropagate method ranks candidate genes by considering the network of interactions between them. This is done by using a graph smoothing algorithm called label propagation to quantify the metabolic disruption in genes’ local neighbourhood. metPropagate was able to prioritize the causative gene in the top 20th percentile of candidate genes for 91% of patients with known IEM disorders. For novel IEMs, metPropagate placed the causative gene in the top 20th percentile in 9/11 patients. Using metPropagate, the causative gene was ranked higher than Exomiser’s phenotype-based ranking in 6/11 patients. The results of this study indicate that for diagnostic and gene discovery purposes, network-based analysis of metabolomics data can lend support to WES gene-discovery methods by providing an additional mode of evidence to help identify causal genes.
The Impact of Income Support Systems on Healthcare Quality and Functional Capacity in Workers with Low Back Pain: A Realist Review
Authors: Di Donato Michael , Iles Ross , Lane Tyler , Buchbinder Rachelle , Collie Alex 
Published: January 2020

ABSTRACTBackgroundLow back pain (LBP) is a leading cause of work disability. While absent from work, workers with LBP may receive income support from a system such as workers’ compensation or social security. Current evidence suggests that income support systems can influence recovery from LBP, but provides little insight as to why and how these effects occur. This study examines how and in what contexts income support systems impact the healthcare quality for people with work disability and LBP and their functional capacity.MethodsWe performed a realist review, a type of literature review that seeks to explain how social interventions and phenomena in certain contexts generate outcomes, rather than simply whether they do. Five initial theories about the relationship between income support systems and outcomes were developed, tested, and refined by acquiring and synthesising academic literature from purposive and iterative electronic database searching. This process was supplemented with grey literature searches for policy documents and legislative summaries, and semi-structured interviews with experts in income support, healthcare and LBP.ResultsIncome support systems influence healthcare quality through funding restrictions, healthcare provider administrative burden, and allowing employers to select providers. They also influence worker functional capacity through the level of participation and financial incentives for employers, measures to prove the validity of the worker’s LBP, and certain administrative procedures. These mechanisms are often exclusively context-dependent, and generate differing and unintended outcomes depending on features of the healthcare and income support system, as well as other contextual factors such as socioeconomic status and labour force composition.DiscussionIncome support systems impact the healthcare quality and functional capacity of people with work disability and LBP through context-dependent financial control, regulatory and administrative mechanisms. Research and policy design should consider how income support systems may indirectly influence workers with LBP via the workplace.
Genome wide sequencing provides evidence of adaptation to heterogeneous environments for the ancient relictualCircaeaster agrestis(Circaeasteraceae, Ranunculales)
Authors: Zhang Xu , Sun Yanxia , Landis Jacob B. , Zhang Jianwen , Yang Linsen , Lin Nan , Zhang Huajie , Guo Rui , Li Lijuan , Zhang Yonghong , Deng Tao , Sun Hang , Wang Hengchang 
Published: January 2020

SummaryInvestigating the interaction between environmental heterogeneity and local adaptation is critical to understand the evolutionary history of a species, providing the premise for studying the response of organisms to rapid climate change. However, for most species how exactly the spatial heterogeneity promotes population divergence and how genomic variations contribute to adaptive evolution remain poorly understood.We examine the contributions of geographical and environmental variables to population divergence of the relictual, alpine herbCircaeaster agrestis, as well as genetic basis of local adaptation using RAD-seq and plastome data.We detected significant genetic structure with an extraordinary disequilibrium of genetic diversity among regions, and signals of isolation-by-distance along with isolation-by-resistance. The populations were estimated to begin diverging in the late Miocene, along with a possible ancestral distribution of the Hengduan Mountains and adjacent regions. Both environmental gradient and redundancy analyses revealed significant association between genetic variation and temperature variables. Genome-environment association analyses identified 16 putatively adaptive loci related to biotic and abiotic stress resistance.Our genome wide data provide new insights into the important role of environmental heterogeneity in shaping genetic structure, and access the footprints of local adaptation in an ancient relictual species, informing conservation efforts.