bluuebunny/crossref_metadata_2025_split huggingface dataset:
Variation of microRNA expression in the human placenta driven by population identity and sex of the newborn
Authors: Guo Song , Huang Shuyun , Jiang Xi , Hu Haiyang , Han Dingding , Moreno Carlos S. , Fairbrother Genevieve L. , Hughes David A. , Stoneking Mark , Khaitovich Philipp 
Published: April 2021

Abstract
Background
Analysis of lymphocyte cell lines revealed substantial differences in the expression of mRNA and microRNA (miRNA) among human populations. The extent of such population-associated differences in actual human tissues remains largely unexplored. The placenta is one of the few solid human tissues that can be collected in substantial numbers in a controlled manner, enabling quantitative analysis of transient biomolecules such as RNA transcripts. Here, we analyzed microRNA (miRNA) expression in human placental samples derived from 36 individuals representing four genetically distinct human populations: African Americans, European Americans, South Asians, and East Asians. All samples were collected at the same hospital following a unified protocol, thus minimizing potential biases that might influence the results.

Results
Sequence analysis of the miRNA fraction yielded 938 annotated and 70 novel miRNA transcripts expressed in the placenta. Of them, 82 (9%) of annotated and 11 (16%) of novel miRNAs displayed quantitative expression differences among populations, generally reflecting reported genetic and mRNA-expression-based distances. Several co-expressed miRNA clusters stood out from the rest of the population-associated differences in terms of miRNA evolutionary age, tissue-specificity, and disease-association characteristics. Among three non-environmental influenced demographic parameters, the second largest contributor to miRNA expression variation after population was the sex of the newborn, with 32 miRNAs (3% of detected) exhibiting significant expression differences depending on whether the newborn was male or female. Male-associated miRNAs were evolutionarily younger and correlated inversely with the expression of target mRNA involved in neuron-related functions. In contrast, both male and female-associated miRNAs appeared to mediate different types of hormonal responses. Demographic factors further affected reported imprinted expression of 66 placental miRNAs: the imprinting strength correlated with the mother’s weight, but not height.

Conclusions
Our results showed that among 12 assessed demographic variables, population affiliation and fetal sex had a substantial influence on miRNA expression variation among human placental samples. The effect of newborn-sex-associated miRNA differences further led to expression inhibition of the target genes clustering in specific functional pathways. By contrast, population-driven miRNA differences might mainly represent neutral changes with minimal functional impacts.
Zea mays RNA-seq estimated transcript abundances are strongly affected by read mapping bias
Authors: Zhan Shuhua , Griswold Cortland , Lukens Lewis 
Published: April 2021

Abstract
Background
Genetic variation for gene expression is a source of phenotypic variation for natural and agricultural species. The common approach to map and to quantify gene expression from genetically distinct individuals is to assign their RNA-seq reads to a single reference genome. However, RNA-seq reads from alleles dissimilar to this reference genome may fail to map correctly, causing transcript levels to be underestimated. Presently, the extent of this mapping problem is not clear, particularly in highly diverse species. We investigated if mapping bias occurred and if chromosomal features associated with mapping bias. Zea mays presents a model species to assess these questions, given it has genotypically distinct and well-studied genetic lines.

Results
In Zea mays, the inbred B73 genome is the standard reference genome and template for RNA-seq read assignments. In the absence of mapping bias, B73 and a second inbred line, Mo17, would each have an approximately equal number of regulatory alleles that increase gene expression. Remarkably, Mo17 had 2–4 times fewer such positively acting alleles than did B73 when RNA-seq reads were aligned to the B73 reference genome. Reciprocally, over one-half of the B73 alleles that increased gene expression were not detected when reads were aligned to the Mo17 genome template. Genes at dissimilar chromosomal ends were strongly affected by mapping bias, and genes at more similar pericentromeric regions were less affected. Biased transcript estimates were higher in untranslated regions and lower in splice junctions. Bias occurred across software and alignment parameters.

Conclusions
Mapping bias very strongly affects gene transcript abundance estimates in maize, and bias varies across chromosomal features. Individual genome or transcriptome templates are likely necessary for accurate transcript estimation across genetically variable individuals in maize and other species.
Effects of irbesartan on phenotypic alterations in monocytes and the inflammatory status of hypertensive patients with left ventricular hypertrophy
Authors: Zhang Jingsi , Yang Lina , Ding Yanchun 
Published: April 2021

Abstract
Background
Circulating monocytes and tissue macrophages play complex roles in the pathogenesis of hypertension and the resulting target organ damage. In this study, we observed alterations in the monocyte phenotype and inflammatory state of hypertensive patients with left ventricular hypertrophy (LVH) and studied the effects of irbesartan in these patients. This study might reveal a novel mechanism by which irbesartan alleviates LVH, and it could provide new targets for the prevention and treatment of hypertensive target organ damage.

Methods
CD163 and CD206 expression on monocytes and IL-10 and TNF-α levels in the serum of hypertensive patients with or without LVH and of healthy volunteers were detected. Furthermore, we treated monocytes from the LVH group with different concentrations of irbesartan, and then, CD163, CD206, IL-10 and TNF-α expression was detected.

Results
We found, for the first time, that the expression of CD163, CD206 and IL-10 in the LVH group was lower than that in the non-LVH group and healthy control group, but the TNF-α level in the LVH group was significantly higher. Irbesartan upregulated the expression of CD163 and CD206 in hypertensive patients with LVH in a concentration-dependent manner. Irbesartan also increased the expression of IL-10 and inhibited the expression of TNF-α in monocyte culture supernatants in a concentration-dependent manner.

Conclusions
Our data suggest that inflammation was activated in hypertensive patients with LVH and that the monocyte phenotype was mainly proinflammatory. The expression of proinflammatory factors increased while the expression of anti-inflammatory factors decreased. Irbesartan could alter the monocyte phenotype and inflammatory status in hypertensive patients with LVH. This previously unknown mechanism may explain how irbesartan alleviates LVH.
Trail registration The study protocols were approved by the Ethical Committee of the Second Affiliated Hospital of Dalian Medical University. Each patient signed the informed consent form.
SCD leads to the development and progression of acute myocardial infarction through the AMPK signaling pathway
Authors: Wang Lijie , Yu Fengxia 
Published: April 2021

AbstractBackgroundAcute myocardial infarction (AMI) is myocardial necrosis caused by acute coronary ischemia and hypoxia. It can be complicated by arrhythmia, shock, heart failure and other symptoms that can be life-threatening. A multi-regulator driven dysfunction module for AMI was constructed. It is intended to explore the pathogenesis and functional pathways regulation of acute myocardial infarction.MethodsCombining differential expression analysis, co-expression analysis, and the functional enrichment analysis, a set of expression disorder modules related to AMI was obtained. Hypergeometric test was performed to calculate the potential regulatory effects of multiple factors on the module, identifying a range of non-coding RNA and transcription factors.ResultsA total of 4551 differentially expressed genes for AMI and seven co-expression modules were obtained. These modules are primarily involved in the metabolic processes of prostaglandin transport processes, regulating DNA recombination and AMPK signal transduction. Based on this set of functional modules, 3 of 24 transcription factors (TFs) including NFKB1, MECP2 and SIRT1, and 3 of 782 non-coding RNA including miR-519D-3P, TUG1 and miR-93-5p were obtained. These core regulators are thought to be involved in the progression of AMI disease. Through the AMPK signal transduction, the critical gene stearoyl-CoA desaturase (SCD) can lead to the occurrence and development of AMI.ConclusionsIn this study, a dysfunction module was used to explore the pathogenesis of multifactorial mediated AMI and provided new methods and ideas for subsequent research. It helps researchers to have a deeper understanding of its potential pathogenesis. The conclusion provides a theoretical basis for biologists to design further experiments related to AMI.
Characteristics and patient-reported outcomes associated with dropout in severely affected oncological patients: an exploratory study
Authors: Gebert Pimrapat , Schindel Daniel , Frick Johann , Schenk Liane , Grittner Ulrike 
Published: April 2021

Abstract
Background
Patient-reported outcome measures (PROMs) are commonly-used surrogates for clinical outcomes in cancer research. When researching severe diseases such as cancer, it is difficult to avoid the problem of incomplete questionnaires from drop-outs or missing data from patients who pass away during the observation period. The aim of this exploratory study was to explore patient characteristics and the patient-reported outcomes associated with the time-to-dropout.

Methods
In an Oncological Social Care Project (OSCAR) study, the condition of the participants was assessed four times within 12 months (t0: baseline, t1: 3 months, t2: 6 months, and t3: 12 months) by validated PROMs. We performed competing-risk regressions based on Fine and Gray’s proportional sub-distribution hazards model for exploring factors associated with time-to-dropout. Death was considered a competing risk.

Results
Three hundred sixty-two participants were analyzed in the study. 193 (53.3%) completed a follow-up after 12 months, 67 (18.5%) patients dropped out, and 102 patients (28.2%) died during the study period. Poor subjective social support was related to a higher risk of drop-out (SHR = 2.10; 95%CI: 1.01–4.35). Lower values in health-related quality of life were related to drop-out and death. The sub-scales global health status/QoL, role functioning, physical functioning, and fatigue symptom in the EORTC QLQ-C30 were key characteristics of early drop-out.

Conclusion
Severely affected cancer patients with poor social support and poor quality of life seem more likely to drop out of studies than patients with higher levels of social support and a better quality of life. This should be considered when planning studies to assess advanced cancer patients. Methods of close continued monitoring should be actively used when patient experiences a substantial deterioration in their health-related quality of life and symptoms during the study. Results for such studies have to be interpreted with caution in light of specific drop-out mechanisms.

Trial registration
OSCAR study was registered to the German Clinical Trials Register (DRKS-ID: DRKS00013640). Registered 29 December 2017.
Type 2 diabetes and COPD: treatment in the right healthcare setting? An observational study
Authors: Willink R. P. , Vos Rimke C. , Looijmans-van den Akker I. , Hart Huberta E. 
Published: April 2021

Abstract
Background
Type 2 diabetes (T2DM) and COPD are chronic medical conditions, for which patients need lifelong healthcare. The aim of this study is to examine in which healthcare setting patients with T2DM and COPD receive their care, and if this is the correct healthcare setting according to guidelines.

Method
T2DM and COPD patients from five primary care practices were included. Data concerning healthcare setting and patient- and clinical characteristics were extracted from the electronic medical records. Patient profiles treated in primary care were compared with the profiles of those treated in secondary care. In patients treated in secondary care we evaluated whether treatment allocation was according to the guidelines and if back-referral to primary care should take place.

Results
Of the T2DM and COPD patients 7.6% and 29.6% respectively, were treated in secondary care, and 72.7% respectively 31.4% of these were according to the guideline. T2DM patients treated in primary care were older (63 versus 57 years, p < 0.01, had a shorter diabetes duration (8 versus 11 years, p < 0.01) and lower HbA1c (53.0 versus 63.5 mmol/l, p < 0.01) than those treated in secondary care. Those with COPD treated in primary care used less inhalation medication (75.2 versus 90.1%, p < 0.01) and had better spirometry results (67.39 versus 57.53 FEV1%pred, p < 0.01).

Conclusion
The majority of the patients with T2DM and COPD were correctly treated in primary care and on average patients with a better health condition were treated in primary care.. Also, those who were treated in secondary care were most of the time treated in the correct treatment setting according to the guidelines.
Restrictive diet in a patient with irritable bowel syndrome leading to Wernicke encephalopathy
Authors: Wang Qiang , Charmchi Zeinab , George Ilena C. 
Published: April 2021

Abstract
Background
We present a case of a woman with a past medical history of irritable bowel syndrome (IBS) and anxiety, who presents with ophthalmoplegia, ataxia and memory loss, characteristic of Wernicke encephalopathy.

Case presentation
A 64-year-old woman presented with double vision, unsteady gait and memory loss. These symptoms began after 3 months on an unfortified restricted diet, which she initiated to alleviate IBS symptoms. Magnetic resonance imaging of the brain demonstrated hyperintense T2-weighted signal in the dorsomedial aspect of bilateral thalami, periaqueductal grey matter and around the third ventricle. The patient’s visual symptoms improved significantly after thiamine supplementation, although her memory deficits persisted.

Conclusion
Although WE is often associated with chronic alcohol abuse, this case demonstrates the importance of recognizing WE in any patient with a restricted diet and subsequent timely initiation of thiamine.
The possible role of Interleukin-6 as a regulator of insulin sensitivity in patients with neuromyelitis optica spectrum disorder
Authors: Maghbooli Zhila , Naser Moghadasi Abdorreza , Rezaeimanesh Nasim , Omidifar Abolfazl , Varzandi Tarlan , Sahraian Mohammad Ali 
Published: April 2021

Abstract
Background
Neuromyelitis optica spectrum disorder (NMOSD) is associated with inflammatory mediators that may also trigger downstream signaling pathways leading to reduce insulin sensitivity.

Methods
We aimed to determine the risk association of hyperinsulinemia in NMOSD patients with seropositive AQP4-IgG and the serum levels of interleukin (IL)-6 and IL-17A compared with the control group.
Serum levels of metabolic (Insulin, Fasting Blood Sugar (FBS), lipid profile) and inflammatory (IL-6 and IL-17) markers were assessed in 56 NMOSD patients and 100 controls.

Results
Hyperinsulinemia was more prevalent in NMOSD patients independent of age, sex and body mass index (BMI) (48.2% vs. 26%, p = 0.005) compared to control group. After adjusting age, sex and BMI, there was significant association between lower insulin sensitivity (IS) and NMOSD risk (95% CI: Beta = 0.73, 0.62 to 0.86, p = 0.0001).
Circulating levels of IL-6 and IL-17 were higher in NMOSD patients, and only IL-6 had an effect modifier for the association between lower insulin sensitivity and NMOSD risk.

Conclusions
Our data suggests that inflammatory pathogenesis of NMOSD leads to hyperinsulinemia and increases the risk of insulin resistance.
Comprehensively addressing postpartum maternal health: a content and image review of commercially available mobile health apps
Authors: Tucker Laura , Villagomez Alan Cuevas , Krishnamurti Tamar 
Published: April 2021

Abstract
Background
The United States is currently facing a maternal morbidity and mortality crisis, with the highest rates of any resource-rich nation. In efforts to address this, new guidelines for postpartum care suggest that mobile health (mHealth) apps can help provide complementary clinical support for new mothers during the postpartum period. However, to date no study has evaluated the quality of existing mHealth tools targeted to this time period in terms of sufficiency of maternal health information, inclusivity of people of color, and app usability.

Methods
Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) standards were used to review the peripartum apps from the Apple and Google Play stores in either the Health/Fitness, Medical, or Education categories. Apps were evaluated for extent and quality of maternal health information and inclusivity of people of color using an a priori coding scheme. App usability was evaluated using the Mobile Application Rating Scale (MARS) score.

Results
Of the 301 apps from the Apple and Google Play stores, 25 met criteria for final evaluation. Of the 30 maternal health topics coded for, the median number addressed by apps was 19.5 (65%). Peripartum behaviors were more frequently addressed than peripartum outpatient care topics and peripartum acute health risks. The coverage of maternal health information and inclusivity of people of color in app imagery both correlated positively with the MARS usability score of the app. Only 8 apps (32%) portrayed greater than 24% images of people of color- the percent of non-white Americans according to 2019 census estimates. There was no correlation between MARS usability score and number of app users, as estimated by number of ratings for the app available on the app store. In addition, apps with evidence-based maternal health information had greater MARS engagement, information, and aesthetics scores. However, presence of evidence-based information did not correlate with greater numbers of app users.

Conclusions
Current commercially available peripartum apps range widely in quality. Overall current app offerings generally do not provide adequate maternal health information and are not optimally accessible to the target users in terms of inclusivity of women of color or app usability. Apps delivering evidence-based information and more usable design are more likely to meet these standards but are not more likely to be downloaded by users.
Extra-abdominal desmoid tumor fibromatosis: a multicenter EMSOS study
Authors: Cuomo Pierluigi , Scoccianti Guido , Schiavo Alberto , Tortolini Valentina , Wigley Catrin , Muratori Francesco , Matera Davide , Kukushkina Mariia , Funovics Philipp Theodor , Lingitz Marie-Theres , Windhager Reinhard , Dijkstra Sander , Jasper Jorrit , Müller Daniel A. , Kaiser Dominik , Perlaky Tamás , Leithner Andreas , Smolle Maria Anna , Campanacci Domenico Andrea 
Published: April 2021

Abstract
Background
Extra-abdominal desmoid tumor fibromatosis (DTF) is a rare, locally aggressive soft tissue tumour. The best treatment modality for this patient cohort is still object of debate.

Questions/purpose
This paper aimed to (1) to compare the outcomes of DTF after different treatment modalities, (2) to assess prognostic factors for recurrence following surgical excision, and (3) to assess prognostic factors for progression during observation.

Methods
This was a retrospective multicenter study under the patronage of the European Musculoskeletal Oncology Society (EMSOS). All seven centres involved were tertiary referral centres for soft tissue tumours. Baseline demographic data was collected for all patients as well as data on the diagnosis, tumour characteristics, clinical features, treatment modalities and whether they had any predisposing factors for DTF.

Results
Three hundred eighty-eight patients (240 female, 140 male) with a mean age of 37.6 (±18.8 SD, range: 3–85) were included in the study. Two hundred fifty-seven patients (66%) underwent surgical excision of ADF, 70 patients (18%) were observed without therapy, the residual patients had different conservative treatments. There were no significant differences in terms of tumour recurrence or progression between the different treatment groups. After surgical excision, younger age, recurrent disease and larger tumour size were risk factors for recurrence, while tumours around the shoulder girdle and painful lesions were at risk of progression in the observational group.

Conclusion
Local recurrence rate after surgery was similar to progression rates under observation. Hence, observation in DTF seems to be justified, considering surgery in case of dimensional progression in 2 consecutive controls (3 and 6 months) and in painful lesions, with particular attention to lesions around the shoulder girdle.
Cortical haemodynamic response during the verbal fluency task in patients with bipolar disorder and borderline personality disorder: a preliminary functional near-infrared spectroscopy study
Authors: Husain Syeda Fabeha , Tang Tong-Boon , Tam Wilson W. , Tran Bach X. , Ho Cyrus S. , Ho Roger C. 
Published: April 2021

AbstractBackgroundFunctional near-infrared spectroscopy (fNIRS) is an emerging neuroimaging modality that provides a direct and quantitative assessment of cortical haemodynamic response during a cognitive task. It may be used to identify neurophysiological differences between psychiatric disorders with overlapping symptoms, such as bipolar disorder (BD) and borderline personality disorder (BPD). Hence, this preliminary study aimed to compare the cerebral haemodynamic function of healthy controls (HC), patients with BD and patients with BPD.MethodsTwenty-seven participants (9 HCs, 9 patients with BD and 9 patients with BPD) matched for age, gender, ethnicity and education were recruited. Relative oxy-haemoglobin and deoxy-haemoglobin changes in the frontotemporal cortex was monitored with a 52-channel fNIRS system during a verbal fluency task (VFT). VFT performance, clinical history and symptom severity were also noted.ResultsCompared to HCs, both patient groups had lower mean oxy-haemoglobin in the frontotemporal cortex during the VFT. Moreover, mean oxy-haemoglobin in the left inferior frontal region is markedly lower in patients with BPD compared to patients with BD. Task performance, clinical history and symptom severity were not associated with mean oxy-haemoglobin levels.ConclusionsPrefrontal cortex activity is disrupted in patients with BD and BPD, but it is more extensive in BPD. These results provide further neurophysiological evidence for the separation of BPD from the bipolar spectrum. fNIRS could be a potential tool for assessing the frontal lobe function of patients who present with symptoms that are common to BD and BPD.