bluuebunny/crossref_metadata_2025_split huggingface dataset:
Incidence of inherited metabolic disorders in southern Israel: A comparison between consanguinity and non-consanguinity communities
Authors: Hazan Guy , Hershkovitz Eliyahu , Staretz-Chacham O 
Published: April 2020

Abstract
Background - Inherited metabolic disorders (IMDs) are group of rare monogenic diseases, usually derived from reduced or absent activity in a single metabolic pathway. Most of the IMDs are inherited in an autosomal recessive manner. The incidence of IMDs varies from country to country and within different ethnic groups, but data is still scarce. Consanguinity rate among populations is highly contributor factor for IMDs incidence. There are no reports comparing the incidence of IMD in consanguineous and non-consanguineous populations from the same geographic region with the same diagnostic capabilities. Our study objective is to compare the incidence of IMDs between between the relatively low consanguineous Jewish population and the consanguineous Bedouin population, both living in the southern of Israel. Results - During 1990-2017 there were 393,772 live births in the Negev district, of Southern of Israel. Among them 187,049 were of Jewish origin while 206,723 were of Bedouin-Muslim origin. A total of 223 children were diagnosed in this study period with IMDs. Among those 223 children with IMD, 33 were of Jewish origin while the other 190 children were of Bedouin-Muslim origin. The overall incidence for IMDs of the overall Negev population was 56.6/100,000 live birth. The incidence for IMD's among the Bedouin population was significantly higher than among Jewish population. Conclusions - IMDs are extremely more common in the consanguineous Bedouin compared with the relatively non-consanguineous Jewish population of Southern Israel. Health policy makers should consider these data and prepare educational and genetic counselling problems accordingly.
The Formation Principle and Characteristics of Self-supercharging Pulsed Water Jet
Authors: Ge Zhaolong , Ling Yuanfei , Tang Jiren , Lu Yiyu , Zhang Yangkai , Wang Lei , Yao Qi 
Published: April 2020

Abstract
High-pressure pulsed water jet technology has high development potential in the field of rock fragmentation. Technical bottlenecks such as difficulty in pressurization and inconvenient frequency adjustment for existing types of pulsed jets, a self-supercharging pulsed water jet generation method is proposed based on the theory of pulsed water jet and principle of hydraulic boosting, which changes the flow direction of fluid medium through the valve core to make the piston reciprocate in the cylinder, and relies on the effective area difference between the front and rear chambers in the stroke stage of the piston to realize the organic combination of “pulse” and “supercharging” of the jet, so as to self-supercharging pulsed water jet. Based on revealing the formation principle of self-supercharging pulsed jet, the self-supercharging pulsed jet generation system was designed, and the self-supercharging pulsed jet testing platform was built, many groups of pressure collection and jet shape observation experiments were carried out for different operating parameters. The research results show that both the jet pressure and the jet shape show periodic change, and higher pulse pressure can be obtained at lower inlet pressure. The error of the pressure ratio calculated according to the experimental results is less than 3% compared with the theoretical design value, thus verifying the feasibility of the method . Pulse pressure and pulse frequency are controllable, that is, as the inlet flow rate increases in the stroke phase of the piston, the pulse pressure and pulse frequency increase, and the pulse duration decreases, as the inlet flow rate increase in the backward stroke phase of the piston, the pulse frequency increases, and the pulse pressure and pulse duration remain unchanged. The research results lay the foundation for enriching the theory of pulsed jet generation and expanding its application range.
Accurate Bone Tunnel Location Based on Three-Dimensional Printing Navigation Module Technology in Coracoclavicular Ligament Reconstruction: Virtual Model vs. Real Model
Authors: Zhang Lei , Feng Qi , Xiong Lu-jing , He Si-yuan , Yi Gang , Guo Xiao-guang , Zhou Xin 
Published: April 2020

Abstract
Background: Finding ideal bone tunnel location is key to reconstruction of the coracoclavicular (CC) ligament, which has become a fundamental surgical method for acromioclavicular (AC) joint dislocation. The study aims to explore virtual model vs. real model of accurate bone tunnel location in coracoclavicular (CC) ligament reconstruction based on 3-dimensional (3D) navigation module printing technology.Methods: Eighty human shoulders including clavicle and scapula were scanned by dual-source computed tomography (CT). CT scans of shoulder joints including clavicle and scapula were imported, the acromioclavicular joints were repositioned to form a whole model, and find the best bone tunnel through digital optimization design by Mimics 19.0 software. In Geomagic Studio software, forming the clavicle navigation module, which was generated for 3D printing. Then 10 parameters of a real bone tunnel and virtual bone tunnel can be measured and compared.Results: Eighty human shoulders including clavicle and scapula were designed and printed successfully. Then 10 parameters of the real and virtual bone tunnels were recorded and compared. No difference was significantly found between the real and virtual bone tunnels in 10 measurements (p>0.05).Conclusions: The accuracy of bone tunnel location for CC reconstruction in adult shoulders based on 3D printing navigation module technology is reliable.
Epigenetic control of INSL4 promotes cell growth and invasiveness in Non-Small-Cell Lung Cancer
Authors: Scopetti Damiano , Piobbico Danilo , Brunacci Cinzia , Pieroni Stefania , Bellezza Guido , Castelli Marilena , Ludovini Vienna , Tofanetti Francesca Romana , Sidoni Angelo , Puxeddu Efisio , Della-Fazia Maria Agnese , Servillo Giuseppe 
Published: April 2020

Abstract
Background Non-Small Cell Lung Cancer accounts for 80–85% of all forms of Lung Cancer as leading cause of cancer-related death in human. Despite remarkable advances in the diagnosis and therapy of Lung Cancer, no significant improvements have thus far been achieved in terms of patients’ prognosis. Here, we investigated the role of INSL4 – a member of the relaxin family –in NSCLC.Methods We permanently overexpressed INSL4 in NSCLC cells in vitro to analyse the growth rate and the tumourigenic features. We further investigated the signalling pathways engaged in INSL4 overexpressing cells and the tumour growth ability by studying the tumour development in a patient derived tumour xenograft mouse model. Results We found a cell growth promoting effect by INSL4 overexpression in vitro in H1299 cells and in vivo in NOD/SCID mice. Surprisingly, in NSCLC-A549 cells, stable INSL4 overexpression has not showed similar effect, despite has an INSL4-mRNA expressed up to 22.000 fold more respect H1299. The INSL4-mRNA analysis of eight different NSCLC-derived cell lines, has revealed a great discrepancy between the amount of INSL4-mRNA and specific protein. Notably, similar result has been observed in studied NSCLC patients analysing and comparing INSL4 mRNA and protein expression. However, in a cohort of NSCLC patients, we found a significant inverse correlation between INSL4 expression and Overall Survival.Conclusions By combining the results from the in vitro and in vivo models and in silico analysis in patients whose NSCLCs adenocarcinoma spontaneously expressed high levels of INSL4 our results suggest that epigenetic modifications that affect INSL4 does not allow to assess precision therapy in selected patients without consider protein INSL4 amount.
RNF43 and PWWP2B inhibit cancer cell proliferation and are a treatment biomarker of gastric cancer patients and their response to FDA-approved drugs
Authors: Sohn Sung-Hwa , Sul Hee Jung , Kim Bohyun , Kim Hyeong Su , Lim Hyun , Kang Ho Suk , Soh Jae Seung , Kim Kab Choong , Cho Ji Woong , Seo Jinwon , Koh Youngho , Zang Dae Young 
Published: April 2020

Abstract
Background: Abnormal regulation of genes was closely related to gastric cancer. The characterization of gastric cancer has necessitated the development of new therapeutics as well as the identification of prognostic markers to predict the response to novel drugs. Methods: In our study, we have performed RNA sequencing analysis on gastric cancer tissues that decreased levels of RNF43 and PWWP2B were significantly associated with recurrence. RNF43 inhibit gastric cancer-related Wnt/β-catenin signaling by interacting with Wnt receptors. PWWP2B is unknown gene which is downregulated in gastric cancer. Therefore, we investigated the screening of 1,449 FDA-approved drugs in male-derived human cell lines such as HAP1, HAP1 RNF43 KO, and HAP1 PWWP2B KO and female-derived human cell line such as SNU620 cells. Results: We demonstrated that RNF43 KO and PWWP2B KO cells showed significantly increased proliferation and migration abilities. Next, we investigated the inhibitory effects of 1,449 drugs in HAP1, HAP1 RNF43 KO, HAP1 PWWP2B KO, and SNU620 cells. After the first round of screening, candidate drugs were selected based on an inhibition rate of > 60% loss of viability compared to wild type cells. Among these FDA-approved drugs, nine drugs (aprepitant, docetaxel trihydrate, ethinyl estradiol, griseofulvin, INC280, pelitinib, pimobendan, tepotinib, and uprosertib) showed strong inhibitory effects in RNF43 KO cells and PWWP2B KO cells. Migration and apoptosis analyses demonstrated that docetaxel trihydrate and pelitinib showed the best inhibition and apoptotic rates, with the smallest half maximal inhibitory concentrations among the screened candidate drugs. In a murine xenograft model, tumor volumes were significantly reduced in the docetaxel trihydrate, uprosertib or pelitinib-treated group, when administered by oral gavage.Conclusions: Our data demonstrated that RNF43 and PWWP2B are a biomarker that predict recurrence of gastric cancer. Our findings suggest that pelitinib could be used as novel therapeutic agents for the prevention and treatment of gastric cancer with an aberrant decrease in RNF43 and PWWP2B expression.
Using equity lens to explore Malaria Intermittent Preventive Treatment in Nigeria: A Qualitative study
Authors: Mahmud Fatima Muhammad , Nedjat Saharnaz , Sajadi Haniye Sadat , Parsaeian Mahbubeh , Majdzadeh Reza 
Published: April 2020

Abstract
Background : Sulphadoxine pyrimethamine (SP) used as a preventive treatment for malaria is low among pregnant women in Nigeria. However, there is limited evidence on the barriers and facilitators of intermittent preventive treatment (IPTp) use in pregnant women. Thus, this study aimed to explore the barriers and facilitators of IPTp use among pregnant women in Kano state, Nigeria.Methods: This qualitative study used a conventional content analysis method. Purposeful sampling strategy was used to select study participants. A total of 14 key informant interviews were conducted with policy makers, malaria experts and health care providers. Three focus group discussions (FGD) were also conducted among pregnant women. Furthermore, separate three FGDs were conducted among husbands whom were selected using opportunistic maximum variation sampling method. The data were analyzed with MaxqDA 10 software which was used to develop the categories, subcategories and themes.Results: A total of five main categories, 13 subcategories, and 17 themes were identified. Malaria policy implementation, antenatal care attendance, accessibility of intermittent preventive treatment in the communities, strengthening IPTp service delivery were the main facilitators of IPTp use. However, political reluctance, high population density, inadequate budget to implement IPTp related policies were the main barriers of IPTp use.Conclusion: This study revealed key barriers and facilitators of the use of Intermittent preventive treatment using Sulphadoxine pyrimethamine. Our study findings suggest that any strategy for improving the of IPTp use among pregnant women should focus on political reluctance, inadequate budget and strengthen the service delivery
The c-KIT Exon 11 Deletions Cause Resistant to Imatinib Treatment of GISTs through Induction of ULK1-SRC related Autophagy
Authors: Wang Hao-Chen , Chen Yu-Tang , Hou Ya-Chin , Wang Chih-Jung , Chao Ying-Jui , Lee Yueh-Tsung , Shan Yan-Shen 
Published: April 2020

Abstract
Background: Exon 11 deletion of c-KIT is the common mutation site with the worst prognosis of gastrointestinal stromal tumors (GISTs). Autophagy has shown to have both protumor and antitumor functions and protect GIST cells from imatinib (IM)-induced apoptosis. In this study, we aimed to explore whether c-KIT exon 11 deletions of GISTs drive refractory to IM treatment through regulation of autophagy.Methods: 251 GISTs were included in this study to determine the association of c-KIT exon 11 deletions with prognosis and IM resistance. Immunohistochemistry, immunofluorescence, Western blotting were used to assess the correlation between c-KIT exon 11 deletions and autophagy and the underlying mechanism. We also studied the antitumor effect of IM in combination with the autophagy inhibitor chloroquine (CQ) in GIST62 cell derived xenograft mice model.Results: GISTs with c-KIT exon 11 deletions had worse survival and IM-resistant phenotype and exhibited higher autophagy levels as compared with GISTs harboring wild type or other c-KIT mutations. In addition, LC3-II expression strongly increased in GIST cell lines carrying c-KIT exon 11 deletions. Treated with autophagy inhibitors or knockdown of the autophagy-related gene ATG5 effectively inhibit GIST cells viability. Co-treatment with IM and CQ significantly suppressed tumor growth as compared with either agent alone, suggesting that autophagy protect GIST cells from IM-induced cell death both in vitro and in vivo. Furthermore, c-KIT exon 11 deletions can induce autophagy by activating SRC and ULK1. SRC inhibitor can block this action.Conclusion: Our study clearly demonstrates that KIT exon 11 deletions induce ULK1-SRC related autophagy is one of reasons for imatinib resistance clinically. Combination with autophagy inhibitor shows significant promise in treatment for imatinib refractory GISTs.
Treatment for breast cancer patients during the special period of novel coronavirus pneumonia outbreak
Authors: Zhou Wenbin , Wang Shui , Pan Hong , Xie Hui , Zhang Jiaxin , Zhen Linlin , Zhang Chunhui , Fang Qi , Cao Susheng , Liu Xiao , Fu Deyuan , Guan Xiaoqing , Jiang Guoqin , Xu Lingyun , Shen Enchao , Geng Qiang , Xiao Xiudi , Gu Jun , Yi Tongbo , Liu Xiaoan 
Published: April 2020

Abstract

Purpose: The outbreak of novel coronavirus pneumonia occurred worldwide. 2019 novel coronavirus disease (COVID-19) can be transmitted from human to human, cause hospital infection, and seriously threatens surgical staffs and inpatients. The treatment of patients with breast cancer may be affected in this special period. Methods: From 24th January to 8th March 2020, patients diagnosed with breast cancer were enrolled from 16 hospitals in Jiangsu Province, and patients, who were candidates for surgery after neoadjuvant chemotherapy, were also enrolled. Patients from 24th January to 8th March 2019 were included as control with the same criteria. Results: In 2019, 520 patients were diagnosed with breast cancer in these 16 hospital; however, only 229 patients (decreased by 56%) were diagnosed with breast cancer in the same period of 2020. The clinical characteristics were similar between the two groups, and core biopsy was performed to more patients in 2020 than that in 2019 (4.1 days ±3.2 vs 3.2 days ±2.6, P < 0.001), and more patients underwent mastectomy and axillary lymph node dissection in 2020. After neoadjuvant chemotherapy, the mean interval between last time of neoadjuvant chemotherapy and surgery in 2020 was significantly longer than that in 2019 (29.2 days ±11.1 vs 17.7 days ±8.2, P < 0.001). After examinations to rule out COVID-19, no COVID-19 was found in any patient. Conclusions: In the special period of novel coronavirus pneumonia outbreak, the treatment of patients with breast cancer was delayed, but the treatment was safe after strict exclusions of COVID-19.
Consumer Preference of Products for the Prevention and Treatment of Stretch Marks: Systematic Product Search
Authors: Zhu Pengyi , Fung Andrew , Woo Benjamin K P 
Published: April 2020

Background
Striae distensae, or stretch marks, are a common and distressing condition affecting females two-and-a-half times more frequently than males. Despite the numerous products available for stretch mark prevention and treatment, there have been few studies that consider consumer product preference.

Objective
The aim of this study was to determine which products were preferred by consumers for the prevention and treatment of stretch marks based on product vehicle and product ingredients.

Methods
In January 2020, a search was conducted on internet retailer Amazon for products related to stretch marks. The top products were identified as those with 100 reviews or greater and a rating of 4 or higher. The products were classified as either stretch mark–specific or non stretch mark–specific. Price, rating, type of vehicle, and specific ingredients of both product groups were compared. Vehicle-type and ingredients in both product groups were compared with two-tailed two-sample proportion tests to determine if certain vehicles or ingredients were more likely to be found in stretch mark–specific products. P<.05 indicated statistical significance.

Results
Out of over 10,000 products, 184 were selected as the top products according to the review and rating criteria of which 117 (63.6%) were stretch mark–specific and 67 (36.4%) were non stretch mark–specific. Oil was the most common vehicle (131/184, 71.2%) while vitamin E was the most common ingredient (58/184, 31.5%). Oil, as a vehicle, was more likely to be found in stretch mark–specific products than in non stretch mark–specific products (P=.001). Olive oil (P=.02) and cocoa butter (P=.08), Centella asiatica (P=.01), and shea butter (P=.003) were the ingredients more likely to be found in stretch mark–specific products than in non stretch mark–specific products.

Conclusions
This study demonstrated that there are many products available for the prevention and treatment of stretch marks and identified specific ingredients in the products preferred by customers. There are few studies investigating the effectiveness of the major ingredients in the stretch mark products that are preferred by consumers. Future studies can focus on the effectiveness of the ingredients found in the products that are preferred by consumers.
REQUIRED SAMPLE SIZE FOR CORRELATION ANALYSIS
Authors: Grjibovski A. M. , Gorbatova M. A. , Narkevich A. N. , Vinogradov K. A. 
Published: April 2020

Sample size calculation prior to data collection is still relatively rare in Russian research practice. This situation threatens validity of the conclusion of many projects due to insufficient statistical power to estimate the parameters of interest with desired precision or to detect the differences of interest. Moreover, in a substantial proportion of cases where sample size calculations are performed simplified formulas with assumption of a normal distribution of the studied variables are used in spite of the fact that this assumption does not hold for many research questions in biomedical research. Correlation analysis is still one of the most commonly used methods of statistical analysis used in Russia. Pearson’s correlation coefficient despite its well-known limitations appears in a greater proportion of publications that non-parametric coefficients. We calculated minimal sample sizes for the parametric Pearson’s coefficient as well its non-parametric alternatives — Spearman’s rho and Kendall’s tau-b correlation coefficients to assist junior researchers with the tool to be able to plan data collection and analysis for several types of data, various expected strengths of associations and research questions. The results are presented in ready-for-use tables with required sample size for the three abovementioned coefficients within the range from 0,10 through 0,90 by 0,05 for statistical power 0,8 and 0,9 and alpha-error or 5% as well as for estimation of the same correlation coefficients with the 95% confidence intervals width equal to 0,1 and 0,2.
FUNCTIONAL STATE OF OMON FIGHTERS BEFORE AND AFTER TRIP
Authors: Solonin I. G. , Varlamova N. G. , Vakhnina N. A. , Loginova T. P. , Liudinina A. Yu. , Markov A. L. , Potolitsyna N. N. , Bojko E. R. 
Published: April 2020

Introduction. The study of the physiological status of representatives of power structures at different stages of service is very relevant.Purpose: a comprehensive assessment of the functional state of the body of OMON fighters before and after a 4-month business trip on perform a special task associated with health and life risks. Materials and methods. 34 OMON fighters of the Komi Republic were examined before the trip and after a 4-month trip to the North Caucasus, where they constantly experienced stress. To assess the functional state of the body, a complex of anthropometric, physiometric, psychophysiological, physiological and biochemical studies was used.Results and its discussion. Before the trip, the fighters showed an increase in the time of the visuomotor reaction, the index of functional changes, the myocardium index, the centralization index, the activity index of regulatory systems, blood pressure indicators and other changes that indicate the activation of free radical oxidation processes, and the appearance in individuals of prenosological and even premorbid conditions. In most of the examined patients, a shift in the autonomic balance was found towards strengthening the sympathetic link in the regulation of heart rhythm. Hypovitaminosis was found in many fighters. After a trip, the functional state deteriorated in most indicators (increased blood pressure, personal anxiety, cholesterol, etc., decreased life index and hemoglobin content, etc.) and the number of people with depleted regulatory systems almost doubled.Conclusion. In general, the body of OMON fighters experiences increased functional stress with signs of obvious stress both before a trip to an area dangerous for health and life, and in the first days after returning to places of permanent residence in the North. In this regard, they need additional health and rehabilitation measures related to optimization of the regime of work and rest, activation of physical education, rationalization of nutrition and strengthening the work on the psychological impact.