bluuebunny/crossref_metadata_2025_split huggingface dataset:
Isolated thrombotic microangiopathy of the small intestine in a patient with atypical hemolytic uremic syndrome – a case report
Authors: Nunius Christoph , Büttner-Herold Maike , Bertz Simone , Schiffer Mario , Buchholz Bjoern 
Published: March 2020

Abstract
Background
Atypical hemolytic uremic syndrome (aHUS) is a rare disease characterized by systemic thrombotic microangiopathy (TMA) reflected by hemolysis, anemia, thrombocytopenia and systemic organ injury. The optimal management of aHUS-patients when undergoing kidney transplantation to prevent recurrence in the allograft is eculizumab, an approved recombinant antibody targeting human complement component C5.

Case presentation
A 39 year-old woman presented with severe abdominal pain, diarrhea and emesis for 3 days. In her past medical history she had experienced an episode of aHUS leading to end stage renal disease (ESRD) in 2007 and a genetic workup revealed a heterozygous mutation in the membrane cofactor protein gene. In 2014 she underwent cadaveric kidney transplantation. Four years later she had to go back on hemodialysis due to allograft failure following a severe systemic cytomegalovirus infection resulting in transplant failure. At presentation she still received calcineurin-inhibitor therapy and reported subfebrile temperatures and pain projecting over the transplant prior to the current symptoms. A contrast enhanced CT-scan of the abdomen revealed inflammatory wall thickening of the small intestine. Diagnostic endoscopy discovered fresh blood in the small intestine without a clear source of bleeding. Histopathology of the small intestine biopsies showed severe thrombotic microangiopathy. Of note, the patient persistently had no signs of systemic hemolysis. Since the TMA of the small intestine was most likely due to aHUS, eculizumab treatment was initiated which abolished the symptoms.

Conclusion
Here we report a patient with thrombotic microangiopathy with predominant manifestation in a single organ, the small intestine, due to aHUS with absence of systemic signs and symptoms. aHUS patients usually require a secondary trigger for the disease to manifest. In this case, the trigger may be attributed to the dysfunctional renal transplant, which was subsequently explanted. Histology of the explanted kidney showed severe inflammation due to purulent nephritis and signs of cellular rejection. After nephrectomy, we continued eculizumab therapy until the patient completely recovered. No signs of TMA recurred after discontinuation of eculizumab, further supporting the concept of the renal transplant as the main trigger of TMA of the small intestine in our patient.
RNAseq expression patterns of canine invasive urothelial carcinoma reveal two distinct tumor clusters and shared regions of dysregulation with human bladder tumors
Authors: Parker Heidi G. , Dhawan Deepika , Harris Alex C. , Ramos-Vara Jose A. , Davis Brian W. , Knapp Deborah W. , Ostrander Elaine A. 
Published: March 2020

Abstract
Background
Invasive urothelial carcinoma (iUC) is highly similar between dogs and humans in terms of pathologic presentation, molecular subtypes, response to treatment and age at onset. Thus, the dog is an established and relevant model for testing and development of targeted drugs benefiting both canine and human patients. We sought to identify gene expression patterns associated with two primary types of canine iUC tumors: those that express a common somatic mutation in the BRAF gene, and those that do not.

Methods
We performed RNAseq on tumor and normal tissues from pet dogs. Analysis of differential expression and clustering, and positional and individual expression was used to develop gene set enrichment profiles distinguishing iUC tumors with and without BRAFV595E mutations, as well as genomic regions harboring excessive numbers of dysregulated genes.

Results
We identified two expression clusters that are defined by the presence/absence of a BRAFV595E (BRAFV600E in humans) somatic mutation. BRAFV595E tumors shared significantly more dysregulated genes than BRAF wild-type tumors, and vice versa, with 398 genes differentiating the two clusters. Key genes fall into clades of limited function: tissue development, cell cycle regulation, immune response, and membrane transport. The genomic site with highest number of dysregulated genes overall lies in a locus corresponding to human chromosome 8q24, a region frequently amplified in human urothelial cancers.

Conclusions
These data identify critical sets of genes that are differently regulated in association with an activating mutation in the MAPK/ERK pathway in canine iUC tumors. The experiments also highlight the value of the canine system in identifying expression patterns associated with a common, shared cancer.
Clinicopathologic features and genomic analysis of pulmonary blastomatoid carcinosarcoma
Authors: Zhao Jikai , Xiang Chan , Zhao Ruiying , Guo Ping , Zheng Jingjing , Han-Zhang Han , Yu Keke , Zhang Jie , Han Yuchen 
Published: March 2020

Abstract
Background
This study was designed to investigate the clinicopathologic features of pulmonary blastomatoid carcinosarcoma and explore the genomic profiles of epithelial and mesenchymal components in this tumor.

Methods
Three cases of pulmonary blastomatoid carcinosarcoma were enrolled in this study. Clinicopathologic information and prognostic data were retrospectively reviewed. Diagnostic immunohistochemistry was performed. The epithelial and mesenchymal components were microdissected to investigate the genomic profiles by performing capture-based targeted next generation sequencing.

Results
The epithelial components in patient one consisted of low-grade and high-grade fetal lung adenocarcinoma. Low-grade epithelial cells showed nuclear expression of β-catenin and missense mutation of CTNNB1. The epithelial components in another two patients consisted of high-grade fetal lung adenocarcinoma/enteric adenocarcinoma. The epithelial cells showed membrane staining of β-catenin and harbored no mutation of CTNNB1. The mesenchymal components in all three tumors were composed of primitive round/spindle cells without definite differentiation and showed cytoplasmic dot positive of β-catenin and no corresponding mutation. Within a tumor, both components exhibited relatively comparable molecular profile. In patient one, 4 mutations: RB1, FAT3, PTCH1 and LRP1B were shared by both epithelial and mesenchymal components. Epithelial component had additional mutations in BCOR, CTNNB1, CTCF, FAT1 and DICER1. In patient two, 12 mutations were shared. The epithelial component had BRCA2 mutation and the mesenchymal had mutations in CREBBP, ALK, DNMT3A, ASXL2, MYCN and RICTOR. Patient three had 6 shared mutations. The epithelial component had an additional mutation in KAT6A and the mesenchymal had an additional mutation in APC. Collectively, we observed heterogeneity between epithelial and mesenchymal components of the same tumor.

Conclusions
Blastomatoid carcinosarcoma showed characteristic morphology and immunophenotype. Parallel detection of genetic abnormalities in epithelial and mesenchymal components could provide further evidence for tumor differentiation, molecular targeting and differential diagnosis.
Integrated bioinformatics analysis of aberrantly-methylated differentially-expressed genes and pathways in age-related macular degeneration
Authors: Shen Yinchen , Li Mo , Liu Kun , Xu Xiaoyin , Zhu Shaopin , Wang Ning , Guo Wenke , Zhao Qianqian , Lu Ping , Yu Fudong , Xu Xun 
Published: March 2020

Abstract
Background
Age-related macular degeneration (AMD) represents the leading cause of visual impairment in the aging population. The goal of this study was to identify aberrantly-methylated, differentially-expressed genes (MDEGs) in AMD and explore the involved pathways via integrated bioinformatics analysis.

Methods
Data from expression profile GSE29801 and methylation profile GSE102952 were obtained from the Gene Expression Omnibus database. We analyzed differentially-methylated genes and differentially-expressed genes using R software. Functional enrichment and protein–protein interaction (PPI) network analysis were performed using the R package and Search Tool for the Retrieval of Interacting Genes online database. Hub genes were identified using Cytoscape.

Results
In total, 827 and 592 genes showed high and low expression, respectively, in GSE29801; 4117 hyper-methylated genes and 511 hypo-methylated genes were detected in GSE102952. Based on overlap, we categorized 153 genes as hyper-methylated, low-expression genes (Hyper-LGs) and 24 genes as hypo-methylated, high-expression genes (Hypo-HGs). Four Hyper-LGs (CKB, PPP3CA, TGFB2, SOCS2) overlapped with AMD risk genes in the Public Health Genomics and Precision Health Knowledge Base. KEGG pathway enrichment analysis indicated that Hypo-HGs were enriched in the calcium signaling pathway, whereas Hyper-LGs were enriched in sphingolipid metabolism. In GO analysis, Hypo-HGs were enriched in fibroblast migration, membrane raft, and coenzyme binding, among others. Hyper-LGs were enriched in mRNA transport, nuclear speck, and DNA binding, among others. In PPI network analysis, 23 nodes and two edges were established from Hypo-HGs, and 151 nodes and 73 edges were established from Hyper-LGs. Hub genes (DHX9, MAPT, PAX6) showed the greatest overlap.

Conclusion
This study revealed potentially aberrantly MDEGs and pathways in AMD, which might improve the understanding of this disease.
Cross-cultural adaptation and validation of the 3D-CAM Chinese version in surgical ICU patients
Authors: Mu Dong-Liang , Ding Pan-Pan , Zhou Shu-Zhe , Liu Mei-Jing , Sun Xin-Yu , Li Xue-Ying , Wang Dong-Xin 
Published: March 2020

AbstractBackgroundAccurate diagnosis of delirium is very important for prevention and treatment. Present study was designed to validate the 3-Minute Diagnostic Interview for CAM-defined Delirium Chinese version (3D-CAM-CN) in surgical ICU patients.MethodsIn this prospective diagnostic study, the 3D-CAM was translated into Chinese with culture adaption. Two interviewers (Roles A and B) independently administrated 3D-CAM-CN assessment in adult patients from postoperative days 1 to day 3. At the meantime, a panel of psychiatrists diagnosed delirium according to the Diagnostic and Statistical Manual of Mental Disorders-fifth edition as the reference standard. The sensitivity and specificity were calculated to analyze the diagnostic character of the 3D-CAM-CN.Kappacoefficient was used to evaluate interrater reliability.ResultsTwo hundred forty-five adult patients were assessed for at least 2 days, resulting a total of 647 paired-assessments. When compared with the reference standard, the sensitivity and specificity of the 3D-CAM-CN assessment were 87.2 and 96.7%, respectively, by Role A and 84.6 and 97.4%, respectively, by Role B, with good interrater reliability (Kappacoefficient = 0.82,P < 0.001). It also performed well in patients with mild cognitive impairment, with the sensitivity from 85.7 to 100% and the specificity from 95.7 to 96.4%.ConclusionOur results showed that the 3D-CAM-CN can be used as a reliable and accurate instrument for delirium assessment in surgical patients.Trial registrationThis trail was approved by the Clinical Research Ethic Committee of Peking University First Hospital (No. 2017–1321) and registered on Chinese clinical trial registry on July 6, 2017 (ChiCTR-OOC-17011887).
Height predict incident non-alcoholic fatty liver disease among general adult population in Tianjin, China, independent of body mass index, waist circumference, waist-to-height ratio, and metabolic syndrome
Authors: Kumari Shubham , Wang Xuena , Liu Yunyun , Gu Yeqing , Huang Yuhan , Zhang Qing , Liu Li , Meng Ge , Wu Hongmei , Sun Shaomei , Wang Xing , Zhou Ming , Jia Qiyu , Wang Guolin , Song Kun , Niu Kaijun 
Published: March 2020

Abstract
Background
Early-life hormonal and nutritional factors can greatly influence the risk of non-alcoholic fatty liver disease (NAFLD). Adult height is a simple marker for these factors. This study aimed to investigate the association between adult height and NAFLD.

Methods
We performed a prospective cohort study of 35,994 participants aged 25 years or over with measured height at baseline. NAFLD was diagnosed by abdominal ultrasound and self-reported history of alcohol intake. Multivariable Cox proportional hazards regression models were conducted to assess the gender-specific association between height and the risk of NAFLD.

Results
During a follow-up period of 5.5 years, 6245 of 35,994 subjects developed NAFLD. The adjusted hazard ratios (95% confidence interval) of NAFLD for increasing quintiles of height were 1.00 (reference), 0.82 (0.73, 0.92), 0.84 (0.73, 0.97), 0.72 (0.61, 0.85) and 0.63 (0.50, 0.79) (P for trend < 0.0001) in males, and 1.00 (reference), 1.00 (reference), 0.80 (0.69, 0.91), 0.72 (0.61, 0.85), 0.60 (0.49, 0.74) and 0.45 (0.35, 0.59) (P for trend < 0.0001) in females, respectively.

Conclusions
A higher adult height was associated with lower risk of NAFLD among males and females in Tianjin, China.
Nutritional quality of foods and non-alcoholic beverages advertised on Brazilian free-to-air television: a cross-sectional study
Authors: Leite Fernanda Helena Marrocos , Mais Laís Amaral , Ricardo Camila Zancheta , Andrade Giovanna Calixto , Guimarães Julia Soares , Claro Rafael Moreira , Duran Ana Clara da Fonseca Leitão , Martins Ana Paula Bortoletto 
Published: March 2020

AbstractBackgroundEvidence shows that foods marketed on television are often low-nutrient-dense foods associated with poor nutritional diet quality, obesity and non-communicable diseases. However, little research has been undertaken in Brazil around this issue. This study assessed the nutritional profile of foods and non-alcoholic beverages advertised on Brazilian television by applying the Pan American Health Organization (PAHO) and the World Health Organization (WHO/Europe) nutrient profiling models.MethodsCross-sectional study based on the International Network for Food and Obesity/non-communicable diseases Research, Monitoring and Action Support (INFORMAS) protocol. A total of 432 h on the three major Brazilian free-to-air TV channels was recorded from April 1st to 30th 2018. Recordings were done for eight non-consecutive and randomly selected days from 6 am to 12 am (midnight). All food-related ads were coded using a systematic approach and classified according to the PAHO and the WHO/Europe nutrient profile models as “eligible”/“not eligible” for marketing restrictions. Absolute and relative frequencies were used to describe absolute numbers and proportions of food and beverage advertisements. The nutritional profile of foods was compared by day, time of the day and types of TV program. For each advertisement, the parent company of promoted food products, supermarkets and restaurants was identified.ResultsA total of 1610 food and beverage ads were broadcast, representing 18.1% of the total ads shown on selected channels. Over 80.0% of all foods and beverages advertised on Brazilian TV channels did not meet the PAHO and the WHO/Europe nutritional quality standards and were considered eligible for marketing restrictions. The proportion of unhealthy food ads was significantly higher on weekends, in the afternoon, and during soap operas programming. Altogether, 10 transnational and local food and beverage companies, two large international fast food chains and two of Brazil’s largest supermarket retailers accounted for almost 90% of all unhealthy food ads shown.ConclusionsThe findings of the present study indicate a high exposure of the Brazilian population to unhealthy food marketing and an inefficient enforcement of existing regulations. Further research to monitor population exposure to unhealthy food marketing and understand the policy inertia that is preventing policy progress, is highly recommended.
A natural experiment of state-level physical activity and screen-time policy changes early childhood education (ECE) centers and child physical activity
Authors: Kracht Chelsea L. , Webster E. Kipling , Staiano Amanda E. 
Published: March 2020

Abstract
Background
Early childhood education (ECE) centers are an important place for preschool-aged children to obtain physical activity (PA). A U.S. state government (Louisiana) recently updated requirements for licensed centers’ PA and screen-time policies, which allowed for assessment of 1) ECE center practices, environment, staff behaviors, and policies changes on child-level PA and 2) state level changes on the ECE center.

Methods
ECE centers were assessed at the beginning of state licensing changes and 1-year later. The ECE centers were assessed via the Environmental Policy Assessment and Observation (EPAO) tool. The EPAO Sedentary Opportunities score, which primarily assesses television viewing time, was revised to reflect viewing non-television devices (e.g. tablets). Child-level PA was measured using accelerometry. For Aim 1, mixed models assessed ECE center changes and child PA with adjustment for demographic characteristics (fixed effects), baseline EPAO score (random effects), and clustering for center. For Aim 2, paired t-tests assessed ECE center environment differences between baseline and follow-up.

Results
Nine ECE centers participated and 49 preschoolers provided complete measures at both time points. For Aim 1, increases in the EPAO revised-Sedentary Opportunities score (as in less non-television screen-time) resulted in increased child PA (p = 0.02). For Aim 2, ECE centers improved their EPAO Active Opportunities and Staff Behaviors score (p = 0.04 and p = 0.02 respectively).

Conclusions
ECE centers improved their environment after 1-year, resulting in additional child PA. Changes in ECE centers environment, possibly through policy, can positively influence children’s PA.
The impact of the duration of the palliative care period on cancer patients with regard to the use of hospital services and the place of death: a retrospective cohort study
Authors: Hirvonen Outi M. , Leskelä Riikka-Leena , Grönholm Lotta , Haltia Olli , Voltti Samuli , Tyynelä-Korhonen Kristiina , Rahko Eeva K. , Lehto Juho T. , Saarto Tiina 
Published: March 2020

Abstract
Background
In order to avoid unnecessary use of hospital services at the end-of-life, palliative care should be initiated early enough in order to have sufficient time to initiate and carry out good quality advance care planning (ACP). This single center study assesses the impact of the PC decision and its timing on the use of hospital services at EOL and the place of death.

Methods
A randomly chosen cohort of 992 cancer patients treated in a tertiary hospital between Jan 2013 –Dec 2014, who were deceased by the end of 2014, were selected from the total number of 2737 identified from the hospital database. The PC decision (the decision to terminate life-prolonging anticancer treatments and focus on symptom centered palliative care) and use of PC unit services were studied in relation to emergency department (ED) visits, hospital inpatient days and place of death.

Results
A PC decision was defined for 82% of the patients and 37% visited a PC unit. The earlier the PC decision was made, the more often patients had an appointment at the PC unit (> 180 days prior to death 72% and < 14 days 10%). The number of ED visits and inpatient days were highest for patients with no PC decision and lowest for patients with both a PC decision and an PC unit appointment (60 days before death ED visits 1.3 vs 0.8 and inpatient days 9.9 vs 2.9 respectively, p < 0.01). Patients with no PC decision died more often in secondary/tertiary hospitals (28% vs. 19% with a PC decision, and 6% with a decision and an appointment to a PC unit).

Conclusions
The PC decision to initiate a palliative goal for the treatment had a distinct impact on the use of hospital services at the EOL. Contact with a PC unit further increased the likelihood of EOL care at primary care.
Quality of youth friendly sexual and reproductive health Services in West Gojjam Zone, north West Ethiopia: with special reference to the application of the Donabedian model
Authors: Munea Alemtsehay Mekonnen , Alene Getu Degu , Debelew Gurmesa Tura 
Published: March 2020

AbstractBackgroundAlthough there has been momentum in implementing sexual and reproductive health services in Ethiopia, young people remain underserved despite their demonstrated needs. Quality care improves utilization of health service and increases the likelihood of obtaining ongoing care. However, little is known about the quality of youth-friendly sexual and reproductive health service in Ethiopia. Therefore, this study sought to investigate the quality of youth-friendly sexual and reproductive health service in West Gojjam Zone, North West Ethiopia.MethodsHealth facility-based cross-sectional study was conducted in West Gojjam zone in 2018 to assess the quality of the service using the Donabedian model. The assessment was done through the triangulation of multiple methods: simulated client study; structured interviews with service providers; observations; and key informant interview with providers and expertise. Fifty-four visits were made to 18 randomly selected health facilities by three simulated clients trained to present three different scenarios (i.e., adolescent with sexually transmitted infection, pregnancy test request and a lady with dry cough). Data were entered and analyzed using SPSS version 21. Facility visit score of ≥ 75% in all quality component categorized as “good quality” otherwise classified as performing below the standard. Thematic analysis was done to analyze qualitative data.ResultsIn this study, none of the health facilities achieved ≥ 75% in the three components of quality measurement. From 18 health facilities, 6(33.3%) provided low quality in all domains. Process component, which measures client-provider interaction and privacy/confidentiality, was the most compromised one. However, a promising result was reported in the input quality that measured the availability of trained providers, drugs, and supplies. The presence of community-based health insurance and age driven comprehensive youth-friendly service delivery approach were identified as challenges to deliver quality services.ConclusionsThe quality of the service ranges from low to medium, with adolescent related elements performing poorly. Minor renovations of health facilities, training on client handling, and contextual modifying the age driven youth-friendly service approach may improve the quality of the services.