bluuebunny/crossref_metadata_2025_split huggingface dataset:
Retinol and vitamin A metabolites accumulate through RBP4 and STRA6 changes in a psoriasis murine model
Authors: Wang Hai-meng , Wu Chao , Jiang Yan-yun , Wang Wen-ming , Jin Hong-zhong 
Published: January 2020

AbstractBackgroundPsoriasis is a common chronic inflammatory skin disease that features the abnormal proliferation of keratinocytes. This proliferation could partly result from disturbances in vitamin A metabolism. Changes in psoriasis patients of the levels of retinol-binding protein 4 (RBP4), a carrier of retinol (vitamin A); transmembrane protein stimulated by retinoic acid 6 (STRA6); and other retinol metabolic molecules have not yet been fully established. Therefore, we investigated vitamin A-related proteins in mice with imiquimod (IMQ)-induced psoriasis.MethodsThirty mice were divided into four study groups: two groups underwent IMQ application for 3 or 6 days (groups A and B, respectively), and two groups underwent Vaseline application for 3 or 6 days (groups C and D, respectively). Blood and skin samples from both lesional and non-lesional areas of the mice were analyzed using enzyme-linked immunosorbent assays, hematoxylin and eosin staining, immunochemistry, real-time reverse transcription polymerase chain reaction, and RNA sequencing.ResultsIMQ-treated mice developed erythema, scales, and skin thickening. Compared with the control groups, IMQ-treated groups had the following changes: 1) interleukin (IL)-17A, IL-23, and tumor necrosis factor (TNF)-α levels were raised significantly in both serum and lesional skin (allp < 0.001); 2) retinol levels in lesional skin increased slightly (p = 0.364), but no change was evident in serum retinol levels; 3) STRA6 was upregulated in both lesional skin (p = 0.021) and serum (p = 0.034); 4) RBP4 levels were elevated in serum (p = 0.042), but exhibited only an increasing trend (p = 0.273) in lesional skin; and 5) proteins and enzymes that mediate retinoic acid formation and transformation were upregulated in lesional skin.ConclusionsAs the demand for vitamin A in psoriatic mice increased, retinol underwent relocation from the circulation to target tissues. RBP4, STRA6, and the transformation from retinol to retinoic acid were upregulated, which may be part of the mechanism of psoriasis skin lesion formation. We propose that a positive feedback mechanism was formed that maintained the severity of psoriasis.
Aggressive prostate cancer with somatic loss of the homologous recombination repair gene FANCA: a case report
Authors: Hongo Hiroshi , Kosaka Takeo , Aimono Eriko , Nishihara Hiroshi , Oya Mototsugu 
Published: January 2020

AbstractBackgroundPrecision medicine based on genomic analysis of germline or tumor tissue is attracting attention. However, there is no consensus on how to apply the results of genomic analysis to treatment.Case presentationA 59-year-old man diagnosed with metastatic prostate cancer was diagnosed with castration-resistant prostate cancer. Although he was sequentially treated with enzalutamide and abiraterone, bone metastasis progression was identified by skeletal scintigraphy. Therefore, we sequentially performed docetaxel therapy followed by cabazitaxel. After the third cycle of cabazitaxel, his prostate-specific antigen level was stable at < 10 ng/mL, and no radiological progression was detected.The patient’s formalin-fixed paraffin-embedded tumor biopsy specimen underwent multiple-gene testing by next-generation sequencing, which identified a FANCA homodeletion. No significant germline mutation was observed.ConclusionsWe describe a case of aggressive, castration-resistant prostate cancer with FANCA homodeletion. Genomic analysis of prostate cancer tissue can be useful to determine optimal treatment of such cancers.
A rapid access to addiction medicine clinic facilitates treatment of substance use disorder and reduces substance use
Authors: Wiercigroch David , Sheikh Hasan , Hulme Jennifer 
Published: January 2020

AbstractBackgroundSubstance use is prevalent in Canada, yet treatment is inaccessible. The Rapid Access to Addiction Medicine (RAAM) clinic opened at the University Health Network (UHN) in January 2018 as part of a larger network of addictions clinics in Toronto, Ontario, to enable timely, low barrier access to medical treatment for substance use disorder (SUD). Patients attend on a walk-in basis without requiring an appointment or referral. We describe the RAAM clinic model, including referral patterns, patient demographics and substance use patterns. Secondary outcomes include retention in treatment and changes in both self-reported and objective substance use.MethodsThe Electronic Medical Record at the clinic was reviewed for the first 26 weeks of the clinic’s operation. We identified SUD diagnoses, referral source, medications prescribed, retention in care and self-reported substance use.ResultsThe clinic saw 64 unique patients: 66% had alcohol use disorder (AUD), 39% had opiate use disorder (OUD) and 20% had stimulant use disorder. Fifty-five percent of patients were referred from primary care providers, 30% from the emergency department and 11% from withdrawal management services. Forty-two percent remained on-going patients, 23% were discharged to other care and 34% were lost to follow-up. Gabapentin (39%), naltrexone (39%), and acamprosate (15%) were most frequently prescribed for AUD. Patients with AUD reported a significant decrease in alcohol consumption at their most recent visit. Most patients (65%) with OUD were prescribed buprenorphine, and most patients with OUD (65%) had a negative urine screen at their most recent visit.ConclusionThe RAAM model provides low-barrier, accessible outpatient care for patients with substance use disorder and facilitates the prescription of evidence-based pharmacotherapy for AUD and OUD. Patients referred by their primary care physician and the emergency department demonstrated a reduction in median alcohol consumption and high rates of opioid abstinence.
Dosimetric benefit of an adaptive treatment by means of plan selection for rectal cancer patients in both short and long course radiation therapy
Authors: de Jong R. , Visser J. , Crama K. F. , van Wieringen N. , Wiersma J. , Geijsen E. D. , Bel A. 
Published: January 2020

Abstract
Background
To compare target coverage and dose to the organs at risk in two approaches to rectal cancer: a clinically implemented adaptive radiotherapy (ART) strategy using plan selection, and a non-adaptive (non-ART) strategy.

Methods
The inclusion of the first 20 patients receiving adaptive radiotherapy produced 10 patients with a long treatment schedule (25x2Gy) and 10 patients with a short schedule (5X5Gy). We prepared a library of three plans with different anterior PTV margins to the upper mesorectum, and selected the most appropriate plan on daily Conebeam CT scans (CBCT). We also created a non-adaptive treatment plan with a 20 mm margin. Bowel bag, bladder and target volume were delineated on CBCT. Daily DHVs were calculated based on the dose distribution of the selected and non-adaptive plans. Coverage of the target volume was compared per fraction between the ART and non-ART plans, as was the dose to the bladder and small bowel, assessing the following dose levels: V15Gy, V30Gy, V40Gy, V15Gy and V95% for long treatment schedules, and V15Gy and V95% for short ones.

Results
Target volume coverage was maintained from 98.3% (non-ART) to 99.0% (ART)(p = 0.878). In the small bowel, ART appeared to have produced significant reductions in the long treatment schedule at V15Gy, V40Gy, V45Gy and V95% (p <  0.05), but with small absolute differences. The DVH parameters tested for the short treatment schedule did not differ significantly. In the bladder, all DVH parameters in both schedules showed significant reductions (p <  0.05), also with small absolute differences.

Conclusions
The adaptive treatment maintained target coverage and reduced dose to the organs at risk.

Trial registration
Medical Research Involving Human Subjects Act (WMO) does not apply to this study and was retrospectively approved by the Medical Ethics review Committee of the Academic Medical Center, W19_194 # 19.233.
Long-term outcomes in major trauma patients and correlations with the acute phase
Authors: Martino Costanza , Russo Emanuele , Santonastaso Domenico Pietro , Gamberini Emiliano , Bertoni Silvia , Padovani Emanuele , Tosatto Luigino , Ansaloni Luca , Agnoletti Vanni 
Published: January 2020

Abstract
Background
Major trauma patients experience a 20% mortality rate overall, and many survivors remain permanently disabled.
In order to monitor the quality of trauma care in the Trauma System, outcomes assessment is essential. Quality indicators on outcome can be expressed as quality of life, functional outcome, and others.
The trauma follow-up system was created within the Romagna Trauma System (Italy) in order to monitor the trauma network and assess its long-term outcomes.
The aim of this paper is firstly to evaluate the existence of correlations between epidemiological data, severity of injury, and clinical assessment characterizing the acute phase and the long-term outcomes in trauma patients and secondly, to explore the association between outcome variables have been modified.

Methods
We conducted a cross-sectional study over a 10-year period, including patients with severe trauma who survived and were discharged from the intensive care unit. The outcome measures were assessed with the use of the Extended Glasgow Outcome Scale and the Euro Quality of Life scale 5 dimension.
Demographic data and clinical severity descriptors versus functional outcome were tested in a binary logistic regression model.

Results
In all, 428 major trauma patients participated in the study. At 1 year, 50.8% of trauma patients included had a good recovery and 49.2% had some degree of disability. The median value of quality of life was 0.725.
At the multivariate analysis, variables showing significant impact on functional outcome were age (p = 0.052, OR 1.025), injury severity score (p = 0.001, OR 1.025), and Glasgow coma scale ≤ 8 (p = 0.001, OR 3.509)
The Spearman’s Rank correlation coefficient showed a strong correlation between the global level of function variables and quality of life at one year (Spearman’s Rho Correlation Coefficient 0.760 (p < 0.0001)).

Conclusions
Increased age, increased injury severity score, and severe traumatic brain injury are predictors of long-term disability.
Most of these trauma patients show impairments that affect not only the level of functional state but also the quality of life. The degree of functional independence has the greatest positive impact on quality of life.
According to our results, after the recovery a prompt recognition of physical and psychological problems with systematic follow-up screening programs can help patients and doctors in defining specific therapeutic-rehabilitation pathways tailored to meet individual requirements.
N-terminal pro-brain natriuretic peptide levels in patients with anomalous left coronary artery from pulmonary artery
Authors: Yunfei Ling , Qiang Fan , Yue Wang , Yongjun Qian 
Published: January 2020

Abstract
Introduction
N-terminal pro-brain natriuretic peptide (NT-pro-BNP) is used as an important biomarker for heart failure in children and adults. Previous researches have shown the value of NT-pro-BNP in various congenital heart defects (CHD). However, the level of NT-pro-BNP in patients with anomalous left coronary artery from the pulmonary artery (ALCAPA) has not been determined.

Materials and methods
Plasma NT-pro-BNP was measured in 23 patients diagnosed with ALCAPA before operation. Echocardiogram was also recorded for each patient.

Results
Patients with NT-pro-BNP above 300 pg/mL showed a statistically significant decrease in LVEF (p < 0.0001) and in age (p < 0.0001) compared to patients with NT-pro-BNP below 300 pg/mL. Age (r = 0.399, p = 0.012) and LVEF (r = 0.403, p = 0.011) showed a statistically significant correlation with NT-pro-BNP in linear regression when NT-pro-BNP more than 300 pg/mL. A negative correlation was shown between NT-pro-BNP and LVEF (r = 0.570, p < 0.0001) in all the patients. No significant correlation was observed between mitral regurgitation (MR) grade and NT-pro-BNP in a Spearman correlation test (r = 0.383; P = 0.071).

Conclusions
In patients with ALCAPA, NT-pro-BNP levels showed a negative correlation with age and LVEF when NT-pro-BNP above 300 pg/mL and no correlation with age and LVEF when NT-pro-BNP under 300 pg/ml. Further studies are needed to determine whether there is a correlation between MR grade and NT-pro-BNP levels.
Extended use of extra corporeal membrane oxygenation as bridge to lung transplantation in two patients
Authors: Skansebo Elin , Broomé Michael , Magnusson Jesper , Riise Gerdt C. , Dellgren Göran 
Published: January 2020

Abstract
Background
We have previously reported our outcome after extra-corporeal membrane oxygenation as bridge-to-lung transplantation, which initially was considered controversial, but over time have gained acceptance and now is performed in most high-volume institutions.

Case presentation
We now report two “extreme” extra-corporeal membrane oxygenation (ECMO) bridge-to-lung transplantation cases, on ECMO > 200 days prior to lung transplantation. One patient survived long-term and the other one did not, and clinical cause and morbidity is outlined in this case-report.

Conclusion
We believe these two cases highlight the medical, ethical and resource allocation difficulties involved with saving patients in very dire circumstances. We have shown that a patient can survive extremely long duration of ECMO bridge to lung transplantation, but selection remains crucial to achieve a reasonable cost-benefit.
Adult ALCAPA: from histological picture to clinical features
Authors: Kubota Hiroshi , Endo Hidehito , Ishii Hikaru , Tsuchiya Hiroshi , Inaba Yusuke , Terakawa Katsunari , Takahashi Yu , Noma Mio , Takemoto Kazuya , Taniai Seiichi , Sakata Konomi , Soejima Kyoko , Shimoyamada Hiroaki , Kamma Hiroshi , Kawakami Hayato , Kaneko Yukihiro , Hirono Satoru , Izumi Daisuke , Ozaki Kazuyuki , Minamino Tohru , Yoshino Hideaki , Sudo Kenichi 
Published: January 2020

Abstract
Background
Anomalous left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital coronary anomaly that results in high mortality if left untreated. Our aim was to extend our knowledge of the histological, angiographic, and clinical characteristics of ALCAPA in order to deepen our understanding of this rare entity.

Case presentation
We were involved in the assessment, treatment, and pathological evaluation of two adult ALCAPA patients who were rescued from ventricular fibrillation and then surgically treated to establish a dual coronary artery system. Histological studies indicated various chronic ischemic changes in the myocardium, patchy fibrosis, and severely thickened arteriolar walls in both ventricles. The first patient is alive and well 11.5 years after surgical correction without any implantable cardioverter defibrillator (ICD) activations. The second patient required re-do surgery 9 months after the initial operation but subsequently died. Histologically, chronic ischemic alteration of the myocardium and thickened arteriolar walls persisted even after surgical correction, and coronary angiography (CAG) showed an extremely slow flow phenomenon even after surgical correction in both patients. The average postoperative opacification rate in the first case was 7.36 + 1.12 (n = 2) in the RCA, 3.81 + 0.51 (n = 3) in the left anterior descending (LAD) artery, and 4.08 + 0.27 (n = 4) in the left circumflex (LCx) artery. The slow flow phenomenon may represent persistent high arteriolar resistance in both ventricles.

Conclusions
Seldom reported or new findings in adult ALCAPA were identified in two cases. More frequent diagnosis of adult ALCAPA can be expected because of the widespread availability of resuscitation and more advanced diagnostic modalities. Accumulation of pathological and clinical findings and confirmation of the long-term follow-up results after treatment may contribute to expanding our knowledge of this rare entity and establishing optimal treatment.
Giant right coronary artery aneurysm mimicking a right intra-ventricular mass: a case report
Authors: Teng Peng , Ni Chengyao , Sun Qianhui , Ni Yiming 
Published: January 2020

Abstract
Background
Coronary artery aneurysm is a rare condition which constitutes a small proportion of coronary artery disease. Such condition mimicking an intra-cardiac mass is extremely rare and poorly understood.

Case presentation
We present an unusual case of a 53-year-old female with decreased exercise tolerance and lower extremity edema for 3 months. The echocardiography showed moderate tricuspid regurgitation and a right intra-ventricular mass below the tricuspid valve. No ventricular wall akinesia or ST segment change was found on echocardiography or electrocardiogram. Coronary computed tomographic angiography confirmed the diagnosis of intra-ventricular mass with feeding vessel originated from the right coronary artery. The patient was scheduled for tumor resection, and the mass turned out to be a thrombosed giant right coronary artery aneurysm. The patient received successful aneurysm resection and had an uneventful postoperative recovery. Unfortunately, a fistula between right coronary artery and right ventricle was detected on follow-up three months later by echocardiography.

Conclusions
Coronary artery aneurysms presenting as intra-cardiac masses are extremely rare. Comprehensive preoperative evaluation is highly recommended because the surgical strategies for tumor and aneurysm are completely different. Aneurysm resection with bypass surgery is preferred rather than aneurysm repair. To our best knowledge, coronary artery aneurysms presenting as intra-ventricular masses have seldom been reported.
Prevalence of Fabry disease in dialysis patients: Western Australia Fabry disease screening study - the FoRWARD study
Authors: Jahan Sadia , Sarathchandran Subashini , Akhter Shamina , Goldblatt Jack , Stark Samantha , Crawford Douglas , Mallett Andrew , Thomas Mark 
Published: January 2020

Abstract
Aim
To determine the prevalence of undiagnosed Fabry Disease (FD) in Western Australian (WA) patients undergoing dialysis.

Background
FD is a multisystem X-linked lysosomal storage disease caused by deficient activity of alpha-galactosidase-A (α-GAL-A). Affected individuals are at risk of developing small-fibre neuropathy, rash, progressive kidney disease, hypertrophic cardiomyopathy and ischaemic stroke. Diagnosis is often delayed by years or even decades. Screening high risk population such as dialysis patients may identify patients with undiagnosed Fabry disease.

Methods
A cross-sectional study was undertaken of all adult patients receiving dialysis in WA, without previously known FD. After informed consent they were screened for α-GAL-A activity by dried blood spot samples. Low or inconclusive activity were repeated via Centogene in Rostock, Germany with GLA genetic analysis. Ethics approval was granted by Royal Perth Hospital Human Research Ethic Committee REG 14–136; site-specific approval was granted from appropriate authorities; ANZ Clinical Trials Registry U1111–1163-7629.

Results
Between February 2015 & September 2017, α-GAL-A activity was performed on 526 patients at 16 dialysis sites. Twenty-nine patients had initial low α-GAL-A; repeat testing & GLA genotyping showed no confirmed FD cases. The causes of false positive rates were thought to be secondary to impaired protein synthesis due to patient malnutrition and chronic inflammation, which is common among dialysis patients, in addition to poor sampling handling.

Conclusion
Analysis of this dialysis population has shown a prevalence of 0% undiagnosed FD. False positives results may occur through impaired protein synthesis and sample handling.
The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease
Authors: Bevilacqua Jorge A. , Guecaimburu Ehuletche Maria del Rosario , Perna Abayuba , Dubrovsky Alberto , Franca Marcondes C. , Vargas Steven , Hegde Madhuri , Claeys Kristl G. , Straub Volker , Daba Nadia , Faria Roberta , Periquet Magali , Sparks Susan , Thibault Nathan , Araujo Roberto 
Published: January 2020

Abstract
Background
Limb-girdle muscular dystrophy (LGMD) is a group of neuromuscular disorders of heterogeneous genetic etiology with more than 30 directly related genes. LGMD is characterized by progressive muscle weakness involving the shoulder and pelvic girdles. An important differential diagnosis among patients presenting with proximal muscle weakness (PMW) is late-onset Pompe disease (LOPD), a rare neuromuscular glycogen storage disorder, which often presents with early respiratory insufficiency in addition to PMW. Patients with PMW, with or without respiratory symptoms, were included in this study of Latin American patients to evaluate the profile of variants for the included genes related to LGMD recessive (R) and LOPD and the frequency of variants in each gene among this patient population.

Results
Over 20 institutions across Latin America (Brazil, Argentina, Peru, Ecuador, Mexico, and Chile) enrolled 2103 individuals during 2016 and 2017. Nine autosomal recessive LGMDs and Pompe disease were investigated in a 10-gene panel (ANO5, CAPN3, DYSF, FKRP, GAA, SGCA, SGCB, SGCD, SGCG, TCAP) based on reported disease frequency in Latin America. Sequencing was performed with Illumina’s NextSeq500 and variants were classified according to ACMG guidelines; pathogenic and likely pathogenic were treated as one category (P) and variants of unknown significance (VUS) are described. Genetic variants were identified in 55.8% of patients, with 16% receiving a definitive molecular diagnosis; 39.8% had VUS. Nine patients were identified with Pompe disease.

Conclusions
The results demonstrate the effectiveness of this targeted genetic panel and the importance of including Pompe disease in the differential diagnosis for patients presenting with PMW.