bluuebunny/crossref_metadata_2025_split huggingface dataset:
Gene Expression Profile Associated With Neural Tube Defects Among Infants Attending Muhimbili National Hospital And Muhimbili Orthopaedic Institute In Tanzania
Authors: Sadallah Mariam , Assenga Evelyne Neema , Pallangyo Charles , Manji Karim 
Published: March 2020

Abstract
Background Neural tube defects (NTDs) are severe congenital anomalies of the central nervous system. The specific cause is not known, though several factors including gene variants involving the folate metabolism have been implicated in the etiology. This study aimed at identifying the gene expression profile of selected genes known to be associated with NTDs among infants attending Muhimbili National Hospital (MNH) and Muhimbili Orthopaedic Institute (MOI).Methodology We conducted a matched case control study involving infants who were attending MNH and MOI during 6 months of the study period. Each case was matched with two controls by gestational age, sex and birth weight. Whole blood samples were collected from all study participants for genetic analysis. Total RNA was isolated using Qiagen RNA blood mini kit, and reversed transcribed into complementary DNA (cDNA) using Super Script II Reverse Transcriptase cDNA Synthesis kit. Real-time polymerase chain reaction was performed on extracted cDNA by a Light Thermal Cycler 480 machine using specific primers for studied genes to determine their expression levels.Results were analysed by GraphPad Prism 5Software, using Student t-test, and Bonferroni post hoc statistical tests. A p value of < 0.05 was considered to be statistically significant. Results The study recruited 50 cases and 100 controls. Among eight studied genes, we found significantly low expression of Methylenetetrahydrofolate reductase [MTHFR] gene among cases than controls (p=0.006). Expression of others genes were having variations and expressed at very low levels in both cases and controls.Conclusion A low expression level of MTHFR gene was a significant risk factor for the occurrence of NTDs amongst infants attending MNH and MOI.Recommendation: We recommend gene expression analysis to be done on mothers of infants with NTDs to identify those at risk; and further mutational analysis to be done to enhance genetic counseling and therefore to prevent recurrence of NTDs.
Understanding Awareness and Consumption of Folic Acid among reproductive age women in Bahirdar Town, North west Ethiopia: a qualitative study.
Authors: Manaye betelihem , Zeru Taye 
Published: March 2020

Abstract
Background: Adequate maternal consumption of folic acid before pregnancy and during the early weeks of gestation can reduce the risk of having a child with a neural tube defect. Current guidance recommends that all women who could become pregnant should take a folic acid supplement before conception and until the twelfth week of pregnancy. The aim of the study was to understand women’s awareness and folic acid consumption among reproductive age women in Bahir Dar town.Methods: A descriptive qualitative research approach, implementing face-to-face focus group (FGD) discussions was done during the month of 2019. The FGD audio was recorded and translated to English, and then content and thematic analysis was done.Result: Forty two (42) participants participated through four (4) focus group discussions. Almost all respondents did not know what foods contain folic acid. Even though Two (2) participants of the FGDS had heard/seen information about children who had Hydrocephalus / Spinal bifida they did not know the causes of neural tube defects.Conclusions : All reproductive age women that participated in the study had no under- standing of the importance of eating foods rich in folic acid in the months prior to pregnancy, and did not know food items containing high levels of folic acid.
Elevated hepcidin, ferroportin associated with glucose metabolism disorder in midpregnancy
Authors: Ma Ziwen , Cheng Yan , Zhang Qingying , Wu Kui , Li Tingting , Liu Junxiu , Cheng Haidong 
Published: March 2020

Abstract
[Objective]: Hepcidin and ferroportin are major regulators of iron metabolism. Although many previous studies have shown that iron metabolism disorder may contribute to the pathogenesis of Type 2 diabetes mellitus (DM), few studies have investigated hepcidin and other iron metabolism parameters in women with gestational diabetes mellitus (GDM). The purpose of this study was to determine the relationship between hepcidin, ferroportin and GDM. [Methods]: A case-control study was conducted in 85 women with GDM and 85 women without GDM (controls) who received regular prenatal care at the Obstetrics and Gynecology Hospital of Fudan University from October 2015 to May 2016. Serum ferritin (SF), hepcidin (Hepc), ferroportin (FPN), and soluble transferrin receptor (sTfR), as well as other clinical parameters, were detected and analyzed in all groups. [Results]: The levels of fasting plasma glucose (FPG), oral glucose tolerance test (OGTT) 1-h and 2-h plasma glucose, glycated hemoglobin (HbA1c), SF, Hepc, FPN and sTfR as well as homeostasis model assessment for insulin resistance (HOMA-IR) were significantly higher in the GDM group (P<0.05 for all). In the GDM group, FPN was positively correlated OGTT-1 h and OGTT-2 h In the control group, only sTfR was positively correlated with OGTT-1 h. There was no correlation between the iron metabolism indicators in both GDM and control group.[Conclusion]: Hepc, FPN sRfR and SF levels were higher in the GDM group. Elevated Hepc and FPN are associated with glucose metabolism disorder and may play an important role in GDM.
Genome-scale Pathway Flux Analysis Predicts Efficacy of anti-PD-1 Therapy in Melanoma
Authors: Mei Qi , Du Shangming , Halfter Kathrin , Li Xiaoyu , Zhang Guokun , Li Yingxia , Saad Christian , Huang He , Qi Shankang , Cheng Weiting , Hu Guangyuan , Mansmann Ulrich , Li Jian 
Published: March 2020

Abstract
Background: Currently, predicting treatment efficacy to immunotherapy has been under extensive investigation. However, a putative biomarker for immunotherapy in melanoma remains to be found.Methods: Utilizing genetic data from two independent melanoma patient cohorts treated with anti-PD-1 therapy, the study described herein conducted a genome-scale pathway flux analysis (GPFA) and related statistical methods to determine whether specific pathways could be identified that are relevant to immunotherapy efficacy.Results: The analysis results highlighted three mechanisms responsible for the efficacy of immunotherapy in melanoma including 1) proper cellular functions in immune cells; 2) angiogenesis for the development and differentiation of immune cells; 3) energy metabolic remodeling to meet the activation of immune cells. Based on these discoveries, a pathway flux-based biomarker (IM.Index) was developed and assessed to validate its predictive ability with odds ratio (OR) of 3.14 (95%CI: 1.16-8.45; p=3.10E-3), sensitivity 76% and specificity 89%. The IM.Index achieved an objective response rate (ORR) of 70%. Comparison to other four putative biomarkers (TMB, NAL, neo-peptide load and cytolytic score) showed a comparative outcome with an hazard ratio (HR) of 1.83 (95%CI: 1.26-2.67; p=1.62E-3) and area under curve (AUC) of 0.82.Conclusion: These results indicate a translational potential of IM.Index, as a biomarker, for anti-PD-1 therapy in melanoma and the GPFA might pave a new path for biomarker discovery in immunotherapy.
Quantitative Muscle Ultrasound versus Magnetic Resonance Imaging in Duchenne Muscular Dystrophy
Authors: Hu Jun , Jiang Li , Hong Siqi , Cheng Li , Wang Qiao , Peng Xuehua , Qin Jiaqiang , Zou Lin 
Published: March 2020

Abstract
Background: Nowadays, it needs favorable biomarkers to follow up the disease progression and therapeutic responses of Duchenne muscular dystrophy (DMD). This study evaluates which one of Quantitative muscle ultrasound (QMUS) and magnetic resonance imaging (MRI) is suitable for the disease in China. Methods: Thirty-six boys with DMD engaged in the longitudinal observational cohort study, who used prednisone from baseline to 12th month. Muscle thickness (MT) and echo intensity (EI) of QMUS and T1-weighted MRI grading were measured in the right quadriceps femoris of the boys with DMD. Results: The scores of MT and EI of QMUS and T1-weighted MRI grading showed significant correlations with the clinical ones of muscle strength, timed testing, and quality of life. The scores of MT and EI of QMUS showed good correlations with the ones of T1-weighted MRI grading too (P<0.05). But 15 of 36 boys with DMD did not take MRI examinations for different reasons. Conclusions: QMUS and MRI can use as biomarkers for tracking DMD. Nevertheless, QMUS, because of its practical, low cost, and patient-friendly, applies for DMD widely than MRI in China. Keywords: Ultrasonography, Magnetic resonance imaging, Duchenne muscular dystrophy, Child
Building a Reference Transcriptome for the Hexaploid Hard Fescue Turfgrass (Festuca brevipila) Using a Combination of PacBio Isoseq and Illumina Sequencing
Authors: Qiu Yinjie , Yang Ya , Hirsch Cory D. , Watkins Eric 
Published: March 2020

Abstract
Background: Hard fescue (Festuca brevipila Tracey, 2n=6x=42) is a cool season turfgrass with a fine leaf texture that performs well under low-input management. Breeding and genetics studies of F. brevipila have been limited due to the complexity of its hexaploid genome. To advance our knowledge of F. brevipila genomics, we used PacBio isoform sequencing to develop a reference transcriptome for this species. Results: Here, we report the F. brevipila reference transcriptome generated from root, crown, leaf, and seed head tissues. We obtained 59,510 full-length transcripts, of which 38,595 were non-redundant full-length transcripts. The longest and shortest transcripts were 11,487 and 58 bp, respectively. To test the polyploid origin of F. brevipila, we sequenced three additional transcriptomes using closely related species on an Illumina platform. The results of our phylotranscriptomic analysis supported the allopolyploid origin of F. brevipila. Conclusions: Overall, the F. brevipila Pacbio Isoseq reference transcriptome provided the foundation for transcriptome studies and allowed breeders for gene discovery in this important turfgrass species.
LncRNAs as Therapeutic Targets for Autophagy-involved Cardiovascular Diseases: A Review of Molecular Mechanism and T herapy Strategy
Authors: Jin Lihui , Hong Nanchao , Ai Xuefeng , Wang Jing , Li Zhuoyan , Han Zhenyuan , Zhang Qi , Yu Yu , Sun Kun 
Published: March 2020

Background:
Cardiovascular diseases (CVDs) remain the leading cause of death worldwide.
The concept of precision medicine in CVD therapy today requires the incorporation of individual genetic
and environmental variability to achieve personalized disease prevention and tailored treatment. Autophagy,
an evolutionarily conserved intracellular degradation process, has been demonstrated to be essential
in the pathogenesis of various CVDs. Nonetheless, there have been no effective treatments for autophagy-
involved CVDs. Long noncoding RNAs (lncRNAs) are noncoding RNA sequences that play versatile
roles in autophagy regulation, but much needs to be explored about the relationship between
lncRNAs and autophagy-involved CVDs.

Summary:
Increasing evidence has shown that lncRNAs contribute considerably to modulate autophagy
in the context of CVDs. In this review, we first summarize the current knowledge of the role lncRNAs
play in cardiovascular autophagy and autophagy-involved CVDs. Then, recent developments of antisense
oligonucleotides (ASOs) designed to target lncRNAs to specifically modulate autophagy in diseased
hearts and vessels are discussed, focusing primarily on structure-activity relationships of distinct
chemical modifications and relevant clinical trials.

Perspective:
ASOs are promising in cardiovascular drug innovation. We hope that future studies of
lncRNA-based therapies would overcome existing technical limitations and help people who suffer from
autophagy-involved CVDs.
Altered Expression of MicroRNAs in the Bone Marrow of Multiple Myeloma Patients and their Relationship to Cytogenetic Aberrations
Authors: Attia Hanaa R.M. , Abdelrahman Amany H. , Ibrahim Mona H. , Eid Maha M. , Eid Ola M. , Sallam Mohamed T. , El Gammal Mosaad M. , Kamel Mahmoud M. 
Published: March 2020

Background:
Multiple Myeloma (MM) is a complex hematologic malignancy, driven by
several genetic and epigenetic alterations. MiRNAs as biomarkers have become a rapidly growing research
area in the last decade.

Aim:
The aim was to study the expression pattern of selected miRNAs and to explore the impact of cytogenetic
aberrations in MM patients for therapeutic tools.

Patients and Methods:
Forty Egyptian adult patients were selected for the study with symptomatic
newly diagnosed MM disease. Bone marrow samples were collected to investigate twelve miRNAs selected
according to their relation to the most common cytogenetic aberrations with relevant prognostic
value. The relative expression of the selected miRNAs was determined using a real-time PCR technique.
Fluorescence In Situ Hybridization (FISH) technique was performed for cytogenetic analysis.

Results:
Eight miRNAs were down-regulated [miR-15a (p<0.001), miR214-3p (p<0.001), miR135b
(p<0.001), miR19a-3p (p<0.001), miR19b-3p ((p=0.026), miR30e-5p (NS), miR133a (NS), miR146a-
5p (p<0.001)]. Four miRNAs were up-regulated [miR99b-5p (p=0.028), miR125a-3p (p=0.004), let7b-
5p (p<0.001), let7c-5p (p<0.001)]. Significant relation was observed between positive 14q32 rearrangement
using the break apart re-arrangement probe for 14q32.33 locus and lower expression levels
of miR15a (p= 0.014), 214-3p (p=0.046), 99b-5p (p=0.014), 146a-5p (p=0.041). A higher expression
level of miR30e-5p was significantly related to positive 14q32 rearrangement.

Conclusion:
Deregulated miRNAs were identified and the association with 14q32 rearrangement and
MM pathogenesis has been determined.
Apigenin Alleviates Renal Fibroblast Activation through AMPK and ERK Signaling Pathways In Vitro
Authors: Li Ningning , Wang Zhan , Sun Tao , Lei Yanfei , Liu Xianghua , Li Zhenzhen 
Published: March 2020

Objective:
Renal fibrosis is a common pathway leading to the progression of chronic kidney
disease. Activated fibroblasts contribute remarkably to the development of renal fibrosis. Although
apigenin has been demonstrated to play a protective role from fibrotic diseases, its pharmacological effect
on renal fibroblast activation remains largely unknown.

Materials and Methods:
Here, we examined the functional role of apigenin in the activation of renal
fibroblasts response to transforming growth factor (TGF)-β1 and its potential mechanisms. Cultured
renal fibroblasts (NRK-49F) were exposed to apigenin (1, 5, 10 and 20 μM), followed by the stimulation
of TGF-β1 (2 ng/mL) for 24 h. The markers of fibroblast activation were determined. In order to
confirm the anti-fibrosis effect of apigenin, the expression of fibrosis-associated genes in renal fibroblasts
was assessed. As a consequence, apigenin alleviated fibroblast proliferation and fibroblastmyofibroblast
differentiation induced by TGF-β1.

Result:
Notably, apigenin significantly inhibited the fibrosis-associated genes expression in renal fibroblasts.
Moreover, apigenin treatment significantly increased the phosphorylation of AMP-activated
protein kinase (AMPK). Apigenin treatment also obviously reduced TGF-β1 induced phosphorylation
of ERK1/2 but not Smad2/3, p38 and JNK MAPK in renal fibroblasts.

Conclusion:
In a summary, these results indicate that apigenin inhibits renal fibroblast proliferation,
differentiation and function by AMPK activation and reduced ERK1/2 phosphorylation, suggesting it
could be an attractive therapeutic potential for the treatment of renal fibrosis.
Cross Adaptation Quality of Life Questionnaire for Periodontitis Patients (Modified Indonesian Version) in Menopausal Women
Authors: Wulandari Pitu , Masulili Sri Lelyati C , Kusdhany Lindawati S , Puspitadewi Susi R , Musurlieva Nina , Baziad Ali 
Published: March 2020

Background:
Changes in steroidal sex hormones in peri- and post-menopausal women affect their bodies, including their periodontal tissues. Disorders of periodontal tissues can impact the patient’s quality of life, so a valid instrument in measuring quality of life is needed in order to know how much periodontitis affects the quality of life of sufferers in peri and postmenopausal women.

Objective:
This study aimed to examine the validity and reliability of the quality of life questionnaire for patients with periodontitis (modified Indonesian version).

Methods:
Cross-cultural adaptation was tested in peri- and post-menopausal women aged 45–59 years. The reliability and validity of the questionnaire was examined among 268 women, who lived in Jakarta and were undergoing a periodontal examination to determine periodontitis severity.

Results:
Cronbach’s α coefficients for internal consistency were: 0.929 (questions related to gums) and 0.942 (questions related to teeth); The test-retest reliability was good as determined based on a test–repeat test involving 27 women; the interclass coefficient was 0.880 (questions related to gums) and 0.878 (questions related to teeth). The construct validity of the questionnaire (questions related to gums and teeth) showed that the questionnaire was significantly associated with oral health and food taste (P<0.001). The discriminant validity of the questionnaire, the influence of the gums on speaking difficulties (P=0.011) and family life (P=0.025) and the influence of the teeth on family life (P=0.020) and mood (P=0.019) could enable differentiation of periodontal severity in peri- and post-menopausal women.

Conclusion:
This study confirmed the reliability and validity of the quality of life questionnaire for patients with periodontitis (modified Indonesian version) in peri- and post-menopausal women, therefore this questionnaire can be used to measure the quality of life of periodontitis patients in peri and postmenopause in Indonesia.
Seeing Blocks and Crypto Bros
Authors: Berdugo Liat Rachel , Martinez Emily 
Published: March 2020

How do cryptocurrencies like Bitcoin work? What is a blockchain? And, what does a typical Bitcoin holder look like? The artist collective Anxious to Make commissioned sixty cloudworkers to draw their answers to these questions. Drawings range from the mundane and stereotypical—a Bitcoin owner depicted as a bearded hipster shouting, HODL!—to the complex and eccentric—the blockchain drawn as connected nodes of random numbers, presumably meant to represent cryptographic hashes.
Like much technology, the inner workings of cryptocurrency remain “black boxes” of understanding to most users. As a collective, Anxious to Make remains cautious of any technological apparatus that is believed in without understanding. These series of drawings point to the absurdity and comic nature of technological beliefs and utopic, seamless crypto-fantasies. We offer a subset of the drawings here, together with an analysis of the ways artistic labor is changed by—or mirrors—the practice of outsourcing.
Deep Learning–Based Prediction of Refractive Error Using Photorefraction Images Captured by a Smartphone: Model Development and Validation Study
Authors: Chun Jaehyeong , Kim Youngjun , Shin Kyoung Yoon , Han Sun Hyup , Oh Sei Yeul , Chung Tae-Young , Park Kyung-Ah , Lim Dong Hui 
Published: March 2020

Background
Accurately predicting refractive error in children is crucial for detecting amblyopia, which can lead to permanent visual impairment, but is potentially curable if detected early. Various tools have been adopted to more easily screen a large number of patients for amblyopia risk.

Objective
For efficient screening, easy access to screening tools and an accurate prediction algorithm are the most important factors. In this study, we developed an automated deep learning–based system to predict the range of refractive error in children (mean age 4.32 years, SD 1.87 years) using 305 eccentric photorefraction images captured with a smartphone.

Methods
Photorefraction images were divided into seven classes according to their spherical values as measured by cycloplegic refraction.

Results
The trained deep learning model had an overall accuracy of 81.6%, with the following accuracies for each refractive error class: 80.0% for ≤−5.0 diopters (D), 77.8% for >−5.0 D and ≤−3.0 D, 82.0% for >−3.0 D and ≤−0.5 D, 83.3% for >−0.5 D and <+0.5 D, 82.8% for ≥+0.5 D and <+3.0 D, 79.3% for ≥+3.0 D and <+5.0 D, and 75.0% for ≥+5.0 D. These results indicate that our deep learning–based system performed sufficiently accurately.

Conclusions
This study demonstrated the potential of precise smartphone-based prediction systems for refractive error using deep learning and further yielded a robust collection of pediatric photorefraction images.
OPTIMIZATION OF DRUG SUPPLY OFFICER HEMOGLOBIN LEVELS ON THE IMPROVEMENT OF PREGNANT WOMEN WITH ANDROID BASED ANEMIA
Authors: LISMAWATI  , SEPTINORA RICA TRI 
Published: March 2020

Objective: According to WHO, 40% of the maternal mortality rate in developing countries about the incidence of anemia in pregnancy. The incidence of anemia in pregnancy is caused by iron deficiency and acute hemorrhage. The frequency of pregnant women in Indonesia who are anemic are still very high at 63.5% compared to only 6% in the United States [1]. The aim of this research to determine differences in hemoglobin levels before and after supervised by officers to take medication to increase hemoglobin levels in pregnant women with anemia.
Methods: The research was quasi-experiment using the control group conducted on July 11, s/d August 15th, 2019. The sample in this study was 30 respondents as the experimental group and 30 respondents as a control group, starting with the measurement of hemoglobin of respondents then monitoring the group given the intervention officer taking medication through an android-based application and subsequently re-measured hemoglobin level. Data were analyzed by univariate and bivariate through t-test with α = 0.05.
Results: The result of the univariate analysis showed the average value of maternal age, parity and gestational age is homogeneous with p-value>0.05, which means there is no difference in the characteristics of groups of officers taking medication and without officers taking medication, and the bivariate analysis in getting p-value<0.001 so as to conclude that there are differences in hemoglobin level difference in the group taking medication and the clerk without officers taking medication.
Conclusion: The conclusion of this research was hemoglobin levels increased in pregnant women with anemia after supervised by officers to take medication and increasing regularity in consuming Fe tablets in pregnant women.