bluuebunny/crossref_metadata_2025_split huggingface dataset:
Single nucleotide polymorphisms in the humanATP7Bgene modify the properties of the ATP7B protein
Authors: McCann Courtney J , Jayakanthan Samuel , Siotto Mariacristina , Yang Nan , Osipova Maria , Squitti Rosanna , Lutsenko Svetlana 
Published: May 2019

AbstractSingle nucleotide polymorphisms (SNPs) are the largest source of sequence variation in the human genome. However, their functional significance is not well understood. We show that SNPs in the Wilson disease gene, ATP7B, that produce amino-acid substitutions K832R and R952K, modulate ATP7B properties in vitro and influence serum copper (Cu) status in vivo. The presence of R832 is associated with a lower ATP7B abundance and a diminished trafficking in response to elevated Cu. The K832R substitution alters surface exposure of amino acid residues in the actuator domain and increases its conformational flexibility. All SNP-related ATP7B variants (R832/R952, R832/K952, K832/K952, and K832/R952) have Cu-transport activity. However, the activity of ATP7B-K832/K952 is lower compared to other variants. In humans, the presence of K952 is associated with a higher fraction of exchangeable Cu in serum. Thus, SNPs may modulate the properties of ATP7B and the organism Cu status.
Association of the TNF-α-308, TNF-α-238 gene polymorphisms with risk of bone-joint and spinal tuberculosis: a meta-analysis
Authors: Huang Wei , Zhou Ruiyun , Li Jianfeng , Wang Jianjun , Xiao Hongwei 
Published: May 2019

Abstract
The aim of the present study was to investigate the association of TNF-α-308 and TNF-α-238 gene polymorphisms with the risk of bone-joint and spinal tuberculosis (TB) by meta-analysis. By searching PubMed, Web of Science, Wanfang databases, CNKI, Medline, and Cochrane Library, the published articles about studies of the association of the TNF-α-308, TNF-α-238 gene polymorphisms with risk of bone-joint and spinal tuberculosis were collected by two reviewers. Begg’s and Egger’s tests were performed to assess publication bias. Stata 12.0 software was used for data analysis. The symmetry of the funnel plot indicated no significant publication bias in the Begg’s test (A: P=1.00, B: P=0.764), and the results of the Egger’s test showed no evidence of publication bias (A: P=0.954, B: P=0.626). Seven studies assessed the relationship between TNF-α-308 gene polymorphisms and risk of bone-joint and spinal tuberculosis risk. The heterogeneity (I2) of GG vs. AA or AG was 0% and there was no heterogeneity (χ2 = 0.06 and P=0.944) in a fixed-effects model. There was also a lack of association between TNF-α-308 polymorphism and bone-joint and spinal tuberculosis risk under the recessive model. The remaining models of the TNF-α-308 genotype and further studies of TNF-α-238 did not show a noteworthy association. Overall, there was no significant association between TNF-α-308, TNF-α-238 gene polymorphisms and bone-joint and spinal tuberculosis risk. Our study suggests that tumor necrosis factor α (TNF-α) gene polymorphisms may not contribute to bone-joint and spinal tuberculosis based on the current evidence.
Silencing microRNA-27a inhibits proliferation and invasion of human osteosarcoma cells through the SFRP1-dependent Wnt/β-catenin signaling pathway
Authors: Mu Yu , Zhang Lina , Chen Xue , Chen Si , Shi Yuanyuan , Li Junfeng 
Published: May 2019

Abstract
Osteosarcoma is the most common malignant tumor of bone with a high potential for metastasis. Importantly, microRNA-27a (miR-27a) is involved in the progression of osteosarcoma. The present study aims to discuss the effects of miR-27a and its target gene secreted frizzled related protein 1 (SFRP1) on proliferation and invasion of human osteosarcoma cells via Wnt/β-catenin signaling pathway. The expression of miR-27a and SFRP1 in osteosarcoma tissues and cells was detected, followed by identification of their relations. Subsequently, miR-27a mimic, miR-27a inhibitor, or siRNA against SFRP1 were introduced into cells (HOS and U2OS) to investigate their role in cell proliferation and invasion. The expression of Wnt/β-catenin signaling pathway-related gene was analyzed to further uncover the regulatory mechanism of miR-27a. The osteosarcoma tissues and cells exhibited elevated miR-27 expression and reduced SFRP1 expression. SFRP1 was verified to be a target gene of miR-27a. Meanwhile, silenced miR-27a inhibited proliferation and invasion of human osteosarcoma cells. Finally, silencing miR-27a inhibited the activation of Wnt/β-catenin signaling pathway, evidenced by reduced β-catenin expression. Our study draws a conclusion that silencing miR-27a dampens osteosarcoma progression, which might be achieved through the inactivation of the Wnt/β-catenin signaling pathway by up-regulating SFRP1.
‘Double-muscling’ and pelvic tilt phenomena in rabbits with the cystine-knot motif deficiency of myostatin on exon 3
Authors: Zhang Ting , Lu Yaoyao , Song Shaozheng , Lu Rui , Zhou Minya , He Zhengyi , Yuan Tingting , Yan Kunning , Cheng Yong 
Published: May 2019

Abstract
Gene mutations at different gene sites will produce totally different phenotypes or biological functions in gene-edited animals. An allelic series of mutations in the myostatin (MSTN) gene can cause the ‘double-muscling’ phenotype. Although there have been many studies performed on MSTN-mutant animals, there have been few studies that have investigated the cystine-knot motif in exon 3 of MSTN in rabbits. In the current study, CRISPR/Cas9 sgRNA anchored exon 3 of a rabbit’s MSTN was used to disrupt the cystine-knot motif to change the MSTN construction and cause a loss of its function. Eleven MSTN-KO founder rabbits were generated, and all of them contained biallelic modifications. Various mutational MSTN amino acid sequences of the 11 founder rabbits were modeled to the tertiary structure using the SWISS-MODEL, and the results showed that the structure of the cystine-knot motif of each protein in the founder rabbits differed from the wild-type (WT). The MSTN-KO rabbits displayed an obvious ‘double-muscling’ phenomena, with a 20−30% increase in body weight compared with WT rabbits. In the MSTN-KO rabbits, all of the MSTN−/− rabbits showed teeth dislocation and tongue enlargement, and the percentage of rabbits having pelvic tilt was 0% in MSTN+/+, 0% in MSTN+/−, 77.78% in female MSTN−/− rabbits, and 37.50% in male MSTN−/− rabbits. The biomechanical mechanism of pelvic tilt and teeth dislocation in the MSTN-KO rabbits requires further investigation.
These newly generated MSTN-KO rabbits will serve as an important animal model, not only for studying skeletal muscle development, but also for biomedical studies in pelvic tilt correction and craniofacial research.
Letter to the Editor: Comments on “Association between the ICAM-1 gene polymorphism and coronary heart disease risk: a meta-analysis”
Authors: Gholami Morteza , M. Amoli Mahsa , Sharifi Farshad 
Published: May 2019

Abstract
Yin et al. (Bioscience Reports (2019) 39, BSR20180923) recently published a meta-analysis about the association between the K469E (rs5498) polymorphism and risk of coronary heart disease (CHD). Authors included 14 studies based on their inclusion criteria. They indicated that only studies which their genotyping data were in Hardy–Weinberg equilibrium (HWE) were included in their meta-analysis. They also tested HWE for these studies and found all the control groups in HWE. As their main finding, they concluded that ‘K469E polymorphism is associated with CHD risk and the K allele is a more significant risk factor for developing CHD amongst Chinese and Caucasians populations’. However, there seems to be presenting some mistakes in HWE test which strongly affects included studies and the final conclusion. Here we aim to comment on the issue.
Near‐field communication passive medical detection system employing ponded energy strategy
Authors: Wang JiBin , Wang WenLian 
Published: May 2019

A low‐cost and passive medical examination solution based on near‐field communication (NFC) technology is presented in this Letter. NFC antenna is responsible for inducing energy from the smartphone and transmitting data. The signal of medical sensor is acquired and calculated by microcontroller; the result is sent to the smartphone by NFC and displayed on Android application. In order to adapt to the low energy induction of NFC, maximum output of 5 mA at 3 V, a ponded energy method based on time control is designed to achieve that higher power consumption at time of signal acquisition. A body temperature detection prototype was fabricated to verify such medical detection system. Experimental results show that the system can work stably.
Direct voltage regulation of a stand‐alone DFIG system with non‐linear loads based on an improved‐extended state observer and SSM control
Authors: Guo Lei , Wang Dan , Peng Zhouhua , Diao Liang 
Published: May 2019

This study presents a direct voltage control strategy for a stand‐alone doubly fed induction generator (DFIG) subject to non‐linear loads. The voltage regulator employs a super‐twisting sliding mode (SSM) control to directly calculate the rotor voltage reference with the advantage of mitigating the voltage chattering and omitting the current control loops. On the basis of the harmonic‐eliminating principle under non‐linear loads, an improved extended state observer is proposed and applied to estimate the model‐related part in the SSM control law. The advantages are that no extra sequence decomposition operations and machine parameters are required; therefore, enhancing the robustness and simplifying the structure of the controller. Finally, the proposed method is applied to a 6 kW DFIG‐based hardware system under varying speed conditions. Both simulation and experiment results are given to validate the harmonic‐eliminating performance of the proposed method for the stand‐alone DFIG system.
Effect of Calcium‑Vitamin D Co‑Supplementation on Insulin, Insulin Sensitivity, and Glycemia: A Systematic Review and Meta-Analysis of Randomized Clinical Trials
Authors: Asbaghi Omid , Khosroshahi Mohammad , Kashkooli Sara , Abbasnezhad Amir 
Published: May 2019

AbstractWe conducted a systematic review and meta-analysis of randomized controlled trials (RCTs) to assess the effect of calcium-vitamin D co‑supplementation on insulin, insulin sensitivity, and glycemia. A systematic search was carried out in Web of Science, PubMed, EMBASE, Scopus, and Cochrane library without any language and time restriction up to 12 August 2018, to retrieve the RCTs, which examined the effect of calcium and vitamin D co-supplementation on fasting blood glucose (FBG), insulin, HOMA-B, HOMA-IR, and QUICKI. Meta-analyses were carried out using a random effects model, and I2 indexes were used to evaluate the heterogeneity. Search yielded 2225 publications. Twelve RCTs with 4395 patients were eligible. Results demonstrated that calcium and vitamin D co‑supplementation had significantly reducing effects on FBG, HOMA-IR and circulating levels of insulin. As the subgroup analysis demonstrated, short-term (≤12 weeks) calcium and vitamin D co‑supplementation had a significant reducing effect on FBG. However, beneficial effects of calcium and vitamin D co‑supplementation on circulating level of insulin and HOMA-IR were seen in both short-term and long-term (>12 weeks) supplementations. Furthermore, we found that high doses of vitamin D and calcium co-supplementation (vitamin D≥2000 mg/day and calcium≥1000 mg/day) had significantly reducing effects on FBG, HOMA-IR and insulin. Present meta-analysis indicated the beneficial effects of high-dose and short-term combined vitamin D and calcium supplementation on insulin, insulin resistance and glycemia; however, further large-scale RCTs with adequate and multiple dosing schedules are needed.
Overhead-Extension für die Therapie der isolierten Femurfraktur des Kleinkindes – Was lernt man von den Eltern
Authors: Wagner Ferdinand , Schütz Viktoria , Hubertus Jochen 
Published: May 2019

Zusammenfassung
Hintergrund Die konservative Therapie ist der Standard bei Unter-4-jährigen mit Femurfraktur. Um die Zufriedenheit der Eltern mit dieser aufwändigen Behandlung zu verbessern haben wir wichtige Einflussfaktoren auf diesen wichtigen Behandlungsaspekt untersucht. Patienten: 42 Fälle von Kindern unter 4 Jahren, mit Femurfraktur und Overheadextension-Therapie (OHE) wurden analysiert.
Methode Unser Standardverfahren beinhaltet die 10-tägige OHE mit anschließender Becken-Bein-Gips-Behandlung (BBG). Röntgenbilder wurden bezgl. des Heilverlaufs analysiert. Die Eltern wurden mittels eines pseudonymisierten Fragebogens über ihre Erfahrungen befragt.
Ergebnisse Die Art der Fraktur wurde 73.3% der Eltern „verständlich und detailliert“ erklärt. 23.3% gaben an, dass „viele Fragen unbeantwortet” blieben. 70% der Eltern bemerkten Verhaltensauffälligkeiten bei Ihrem Kind, 63.3% berichteten von therapie-spezifischen Problemen. 86.7% der Eltern waren mit dem Behandlungserfolg zufrieden, 80% mit der Art der Therapie und 73.3% würden die OHE erneut wählen. Spearman-Korrelations-Analysen fanden eine signifikante Korrelation zwischen der generellen Elternzufriedenheit und einem hohen Grad an Aufklärung bzgl. der Art der Fraktur. Eltern, welche Probleme während der Visite ansprechen konnten zeigten eine signifikant höhere Zufriedenheit.
Diskussion Die meisten Gründe für eine Unzufriedenheit der Eltern waren in Verbindung mit Kommunikationsproblemen zu sehen.
Schlussfolgerung Eine gute Evaluierung während der Visite, gute Kommunikation mit den Ärzten sowie gute pflegerische Hilfestellung beeinflussen die Zufriedenheit der Familien erheblich.
The Cycle Characteristics and Outcomes of Infertile Nonclassic 21-Hydroxylase Deficiency Patients Undergoing Ovarian Stimulation for In Vitro Fertilization
Authors: Jiang Shutian , Kuang Yanping 
Published: May 2019

Abstract
Background The objective of the work was to investigate the cycle characteristics and outcomes of infertile women with nonclassic 21-hydroxylase deficiency (21-OHD) undergoing in vitro fertilization (IVF).
Methods Twenty-five infertile nonclassic 21-OHD patients were retrospectively observed. From cycle day 3, patients were given human menopausal gonadotropin (HMG) 150 IU/d or 225 IU/d daily. Dexamethasone was administered orally at 0.75 mg/d. Ovulation was co-triggered by human chorionic gonadotropin (hCG) and triptorelin. Binary logistic regression was performed to quantify the effect of IVF parameters on embryo transfer cycle outcomes. The receiver operating characteristic (ROC) curve was used to determine cutoff points of the selected confounders for predicting pregnant probabilities.
Results In controlled ovarian hyperstimulation (COH) cycles, there was a trend that the viable embryos group consisted of more polycystic ovary (PCO) patients. In embryo transfer (ET) cycles, differences were detected in the usage rate of dexamethasone and the minimum progesterone (P4) and total testosterone (TT) values between the non-pregnant group and the biochemical pregnant group. Binary logistic regression analysis confirmed that decreasing minimum P4 and body mass index (BMI) value was respectively correlated with increasing pregnancy probability. ROC analysis proved that the cutoff values for minimum P4 and BMI were 0.45 ng/ml and 23.36 kg/m2.
Conclusion In COH cycles, the ultrasonographic appearance of ovary helps to predict the number of viable embryos. In ET cycles, dexamethasone obviously improves the pregnancy rate. If the minimum P4 value before endometrial transformation cannot be kept below 0.45 ng/ml, we may consider cycle cancellation. Moreover, it is suggested that BMI of nonclassic 21-OHD women is regulated below 23.36 kg/m2.
Virtual reality simulation training in endoscopy: a Cochrane review and meta-analysis
Authors: Khan Rishad , Plahouras Joanne , Johnston Bradley C. , Scaffidi Michael A. , Grover Samir C. , Walsh Catharine M. 
Published: May 2019

Abstract
Background Endoscopy programs are increasingly integrating simulation training. We conducted a systematic review to determine whether virtual reality (VR) simulation training can supplement and/or replace conventional patient-based endoscopy training for health professional trainees with limited or no prior endoscopic experience.
Methods We searched medical, educational, and computer literature databases in July 2017 for trials that compared VR simulation training with no training, conventional training, another form of simulation training, or an alternative method of VR training. We screened, abstracted data, and performed quantitative analysis and quality assessment through Cochrane methodology.
Results We included 18 trials with 3817 endoscopic procedures. VR training provided no advantage over no training or conventional training based on the primary outcome of composite score of competency. VR training was advantageous over no training based on independent procedure completion (relative risk [RR] = 1.62, 95 % confidence interval [CI] 1.15 – 2.26, moderate-quality evidence), overall rating of performance (mean difference [MD] 0.45, 95 %CI 0.15 – 0.75, very low-quality evidence), and mucosal visualization (MD 0.60, 95 %CI 0.20 – 1.00, very low-quality evidence). Compared with conventional training, VR training resulted in fewer independent procedure completions (RR = 0.45, 95 %CI 0.27 – 0.74, low-quality evidence). We found no differences between VR training and no training or conventional training for other outcomes. Based on qualitative analysis, we found no significant differences between VR training and other forms of simulation training. VR curricula based in educational theory provided benefit with respect to composite score of competency, compared with unstructured curricula.
Conclusions VR simulation training is advantageous over no training and can supplement conventional endoscopy training. There is insufficient evidence that simulation training provides benefit over conventional training.
Outcomes in Chest Wall Reconstruction Using Methyl Methacrylate Prostheses: A Review of the Literature and Case Series Utilizing a Novel Approach with Biologic Mesh
Authors: Shah Nikhil R. , Ayyala Haripriya S. , Tran Bao Ngoc N. , Therattil Paul J. , Keith Jonathan D. 
Published: May 2019

Abstract
Background Composite defects after chest wall resection may leave patients at risk with lack of protection of vital structures and potentially respiratory compromise secondary to flail segments. Reconstruction of the chest wall with various alloplastic materials is possible and well described. Here, the authors present a novel technique in chest wall reconstruction utilizing a methyl methacrylate (MMA) “sandwich” with biologic mesh. The authors also sought to determine outcomes in chest wall reconstruction with MMA to optimize surgical decision making and minimize patient morbidity.
Methods A literature review was conducted using MEDLINE and the Cochrane Collaboration Library for primary research articles on chest wall reconstruction using MMA. Data related to surgical techniques and patient outcomes were extracted and analyzed. The authors also present their case series and outcomes utilizing a novel technique with biologic mesh.
Results Seventy-four articles met inclusion criteria, which included a total of 562 patients. Reconstruction methods included three main variations of the MMA prosthesis and six institution-specific variations. Complications were reported in 13.7% of patients; the most common complications included infection (5.6%), respiratory failure (3.3%), and atelectasis (1.7%). Less commonly reported complications included prosthesis dislocation (1.2%), pneumonia (1.0%), and lung collapse (0.4%). Overall mortality due to respiratory causes was observed in nine patients (1.6%). In our case series, complications included respiratory failure and seroma was reported in one patient, with no complications at long-term follow-up.
Conclusion There are a variety of options available for rigid and nonrigid prosthetic repair of the chest wall. We present the first successful reported case series of reconstruction using biologic mesh as a component of the MMA sandwich prosthesis. MMA appears to be a safe and effective choice for rigid reconstruction when used alone or in conjunction with synthetic or biologic mesh.
Digital image correlation for strain measurement in plastic film blowing process
Authors: Muniandy Komethi 
Published: May 2019

Surface deformation study of a polymer film during plastic film blowing (PFB) extrusion process though is considered essential, is difficult to execute as the process is fast and continuous. Digital image correlation (DIC) is an optical technique that is non-destructive, highly accurate and designed to measure deformations from micro to macro scale. DIC can be proposed as a reliable tool to understand the relationship of polymer structure-processing-properties. In this literature, digital image correlation, its basic principle of operation and reliability guided DIC for continuous large deformation are comprehensively explored. Versatility of DIC, and the conditions that affect the measurement algorithm as well as preceding use of DIC in polymer processes are reviewed. The implementation and potential use of DIC in PFB are described. This review was submitted as part of the 2019 Materials Literature Review Prize of the Institute of Materials, Minerals and Mining run by the Editorial Board of MST. Sponsorship of the prize by TWI Ltd is gratefully acknowledged.
Heart rate variability categories of fluctuation amplitude and complexity: diagnostic markers of fetal development and its disturbances
Authors: Hoyer Dirk , Schmidt Alexander , Gustafson Kathleen M , Lobmaier Silvia M , Lakhno Igor , van Leeuwen Peter , Cysarz Dirk , Preisl Hubert , Schneider Uwe 
Published: May 2019

Abstract

Objective: In fetal diagnosis the myriad and diversity of heart rate variability (HRV) indices prevents a comparable routine evaluation of disturbances in fetal development and well-being. The work aims at the extraction of a small set of HRV key indices that could help to establish a universal, overarching tool to screen for any disturbance. Approach: HRV indices were organized in categories of short-term (prefix s) and long-term (prefix l) amplitude fluctuations (AMP), complexity (COMP), and patterns (PATTERN) and common representatives for each category were extracted. This procedure was done with respect to the diagnostic value in the evaluation of the maturation age throughout the second and complete third trimester of pregnancy as well as to potential differences associated with maternal life-style factors (physical exercise, smoking), nutrient intervention (docosahexaenoic acid (DHA) supplementation), and complications of pregnancy (gestational diabetes mellitus (GDM), intra-uterine growth restriction (IUGR)). Main results: We found a comprehensive minimal set that includes [lAMP: short term variation (STV), initially introduced in cardiotocography, sAMP: heart rate increase across one interbeat interval of phase rectified averaged signal - acceleration capacity (ACst1), lCOMP: scale 4 multi-scale entropy (MSE4), PATTERN: skewness] for the maturation age prediction, and partly overlapping [lAMP: STV, sAMP: ACst1, sCOMP: Lempel Ziv complexity (LZC)] for the discrimination of the deviations. Significance: The minimal set of category-based HRV representatives allows for a screening of fetal development and well-being. These results are an important step towards a universal and comparable diagnostic tool for the early identification of developmental disturbances.

Novelty & Significance

Fetal development and its disturbances have been reported to be associated with a multiplicity of HRV indices. Furthermore, these HRV indices change with maturation. We propose the abstraction of HRV categories defined by short- and long-term fluctuation amplitude, complexity, and pattern indices that cover all relevant aspects of maturational age, behavioral influences and a series of pathological disturbances. The study data are provided by multiple centers. Our approach is an important step towards the goal of a standardized diagnostic tool for early identification of fetal developmental disturbances with respect to the reduction of serious complications in the later life.