bluuebunny/crossref_metadata_2025_split huggingface dataset:
The mutational spectrum of Hunter syndrome reveals correlation between biochemical and clinical profiles in Tunisian patients
Authors: chkioua latifa , Grissa Oussama , Leban Nadia , Gribaa Moez , Boudabous Hela , Turkia Hadhami Ben , Ferchichi Salima , Tebib Neji , Laradi Sandrine 
Published: December 2019

Abstract

Background: Mucopolysaccharidosis type II (MPS II) or Hunter syndrome is an X-linked recessive lysosomal storage disorder resulting from deficient activity of iduronate 2-sulfatase ( IDS ) and the progressive lysosomal accumulation of sulfated glycosaminoglycans (GAGs). Methods: A diagnosis of MPS II or Hunter syndrome was performed based on the following approach after a clinical and paraclinical suspicion. Two biochemical and molecular tests were carried out separately and according to the availability of the biological material. Results: All patients in this cohort presented the most common MPS II clinical features. Electrophoresis of GAGs on a cellulose acetate plate in the presence of a high concentration of heparane sulfate showed an abnormal dermatan sulfate band in the patients compared with that in a control case. Furthermore, leukocyte IDS activity ranged from 0.00 to 0.75 nmol/h/mg of leukocyte protein in patients. Five previously reported mutations were identified in the study patients: one splice site mutation, c.240+1G>A; two missense mutations, p.R88P and p.G94D; a large deletion of exon 1 to exon 7; and one nonsense mutation, p.Q396*. In addition, two novel alterations were identified in the MPS II patients: one frame shift mutation, p.D450Nfs*95 and one nonsense mutation, p.Q204*. Additionally, five known IDS polymorphisms were identified in the patients: IVS3-16 (c.419-16 delT), p.T214M (c.641C>T), p.T146T (c.438 C>T), IVS5-87 (c.709-87G>A), and IVS7+38 (c.1006+38T>C). Conclusions: The high level of urine GAGs and the deficiency of iduronate 2-sulfatase activity was associated with the phenotype expression of Hunter syndrome. Molecular testing was useful for the patients’ phenotypic classification and the detection of carriers.
The effect of initial lens diopter on myopia control by orthokeratology in Teenagers A retrospective Beijing Study
Authors: Yu Jifeng , Shi Wei , Liu Xue , Li Si-Yuan , Li Li 
Published: December 2019

Abstract
Background To investigate the effect of initial refractive error on the control of myopia by orthokeratology. Methods Retrospective study. Data were analyzed from 78 patients (156 eyes) who underwent orthokeratology in Beijing Children's Hospital from January 2014 to April 2018. The changes of axial length and diopter after wearing the lenses were measured. Patients were divided into six groups according to refractive error: <-1.00D, -1.00~ -2.00D, -2.00D~ -3.00D, -3.00D~ -4.00D, -4.00D~ -5.00D and -5.00~ -6.00D. A mixed-effect model was used to analyze the relevant data. At the same time, the interaction item between diopter and wearing time ( the first time when children wear orthokeratology lens) was analyzed, and the influence of gender was corrected. Results Patients averaged 12.9±2.161 years old. Two years after wearing orthokeratology lenses, there was a statistically significant difference with the interaction item between refractive error and wearing time in each group. The estimated values ​​were 0.0631 for the right eye and 0.053 for the left eye. Orthokeratology lenses controlled the progression of myopia well, but the reduction depended on the initial diopters. Binocular axial length examination didn’t show statistically significant difference with the interaction item. Axial length increased with time, and the magnitude of increase did not differ among groups. However, the increase in the axial length of the male more than that of the female. Conclusion Initial refractive errors have a significant impact on the control of myopia by orthokeratology. The less severe myopia patient demonstrated a more pronounced benefits after wearing orthokeratology lenses.
Finite element analysis of the effect of tibial prosthesis extension stem length in total knee arthroplasty in the Chinese population
Authors: Li Yeran , Gao Yuhang , Ding Lu , Yang Chen , Wang Jinlong , Zhang Xuebo , Liu Jianguo , Qi Xin 
Published: December 2019

Abstract
BackgroundThis study aimed to determine the longest usable range of tibial prosthesis extension stems in Chinese patients undergoing primary total knee arthroplasty and to analyze the effect of different stem lengths on prosthesis stability within this range.MethodsWe conducted three-dimensional modeling and simulated surgery in patients with genu varum to measure the longest usable range of tibial prothesis stems, identify impinged cortices under tibial posterior slope cut of 0° and 3°, and analyze factors influencing the longest stem length. We built finite element models according to the longest usable range of extension stems to simulate tibial prostheses with different stem lengths, measure the stress distribution of tibias and prostheses and the relative displacement of distal ends of prostheses, and investigate the effect of different stem extension lengths on prosthesis stability.ResultsWe simulated osteotomy with a tibial posterior slope cut of 0° and 3°, under which the maximum tibial prosthesis stem length was 83 mm (79±24 mm). The simulated tibial cut with a tibial posterior slope of 3° indicated the maximum tibial prosthesis stem length to be 83 mm (83±20 mm). According to the longest usable range of extension stems, we defined five groups for finite element analysis with 40-mm, 50-mm, 60-mm, 70-mm, and 80-mm stem lengths and analyzed each group for posterior slopes of 0° and 3°. The 80-mm stem length models showed minimum relative displacement of the distal end of tibial prosthesis (0°: 2.63, 1.61±0.05 µm; 3°: 1.48, 1.44±0.09 µm), whereas the 40-mm stem length models showed maximum relative displacement (0°: 3.16, 3.19±0.12 µm; 3°: 1.84, 1.81±0.07 µm). As the length of tibial prosthesis stems increased from 40 to 70 mm, the relative displacement of the distal end of prosthesis decreased for both posterior slopes but was insignificant when stem lengths increased to 70–80 mm.ConclusionsBased on the results, we suggest that using the longest tibial stem is not always necessarily a better option to increase stability, as the prosthesis shows greater stability in only a specific range of increased length but shows insignificant change when the length is greatly increased.
High particulate matter burden by cigarettes from the United Arab Emirates and Germany: Are there country-specific differences?
Authors: Braun Markus , Al-Qaysi Rawya , Klingelhöfer Doris , Zulauf Nicole , Müller Ruth , Groneberg David A. 
Published: December 2019

Abstract

BackgroundAlthough the big tobacco companies offer the same cigarette brands across countries, little is known about regional differences of particulate matter (PM) emissions of apparently equal brands. PM emissions of three cigarette brands (Marlboro, Winston, Parliament) from the United Arab Emirates (UAE) and Germany were analysed. Second-hand smoke was produced in a 2.88m³ measuring cabin by an automatic environmental tobacco smoke emitter. PM size fractions PM10, PM2.5 and PM1 were detected in real time using laser aerosol spectrometry. ResultsDepending on the PM fraction Marlboro and Winston cigarettes from UAE showed 28-35% higher PM amounts than the German counterparts. The “lighter” Parliament from UAE emitted 3-9% more PM than the German one. The measured PM2.5 values laid between 777 µg/m³ and 1161 µg/m³. ConclusionPM emission of equal or similar tobacco products from different countries can differ distinctly. Hence, the declaration of PM emission values, beside nicotine, tar and carbon monoxide amounts, should be obligate worldwide. Furthermore, complete information about ingredients and production design of tobacco products should be provided to health officials and public. This can help to minimise or ban substances or production designs that make smoking even more harmful, and to enhance the awareness to risks of smoking.
The bias generated by sequencing platforms in analyzing of maternal-neonate gut microbiota profiles and diversity
Authors: Wei Jie , Cheng Yue , Cao Xin , Tuo Xiaohong , Jiang Kaichong , Lv Jia , Monisayo Adediji Omolade , Han Bei 
Published: December 2019

Abstract
Background: Microbiome is an important internal ecosystem closely related to host health. Most of the bacteria existed in the internal ecosystem cannot be isolated with laboratory bacteriological culture methods, while 16S rDNA sequencing is considered and used for the bacterial identification by through the high-throughput platforms. The aim of this study was to compare the microbiota analysis result using two next-generation sequencing platforms and bioinformatics pipelines. Results: 56 maternal-neonate fecal samples were sequenced and analyzed by 16S rRNA amplicon sequencing both by Ion Torrent S5-xl and Illumina Hiseq 2500 with standard protocols at same lab. For the richness and diversity of microbiota, index of chao1, observed_specise, PD_whole_tree, simpson and good_converage varied significantly except Shannon index at two platforms (P<0.05). The relative abundance of bacteria at different taxonomy levels is checked from phylum to species level, the more species of bacteria sequenced and annotated, the lower the correlation of the relative abundance of the bacteria founded between two platforms. The sequencing results are consistent between two platforms. Principal component analysis (PCA) results showed that more than 87% of samples were concentrated. According to principal coordinate analysis (PCoA), 56 samples of the two platforms were divided into two clusters, and the compliance rate of the two platforms is 71.43%. The differences between microbial community structures generated from two platforms were tested by multi-response permutation procedure (MRPP), which showed significant differences at family and genus levels separately (A=0.094, P=0.001; A=0.085, P=0.002). When maternal and neonate samples were considered, at family level, there was no difference in microbiota composition between two platform for maternal group (A=0.006, P=0.149), while in the neonate group, it showed significant differences (A=0.035, P=0.006). At the genus level, there existed significant differences in microbiota both in maternal and neonate group (A=0.0216, P=0.004; A=0.098, P=0.001). Conclusion: Although the relative abundance of microbiota sequenced at two different platforms is basically similar, the diversity and correlation coefficient are still quite different. To increase reproducibility and reliability in cohort studies, it is important to use the same sequencing platforms and the corresponding pipeline to reduce the systematic error in microbiome analysis.
Recurrent Synovitis of Hip and MEFV Gene Related Arthritis in Children
Authors: Salehzadeh Farhad , Mirzarahimi Mehrdad 
Published: December 2019

Abstract
Background: Familial Mediterranean fever (FMF) is an autosomal recessive inherited auto inflammatory disorder. Arthritis is the presenting finding of FMF in some patients, and sometimes it remains as the major manifestation of the disorder. This study reports three non-FMF patients with heterozygous MEFV gene mutations and an extraordinary arthritis as a recurrent synovitis of hip (RSH) Methods: During 16-years from 2003 to 2019 at pediatric rheumatologic clinic among 195 recorded files, 3 patients with diagnosis of recurrent synovitis of hip (RSH) were reviewed thoroughly. Peripheral blood was collected from patients and the samples were screened for the 12 common MEFV gene pathogenic variants. Results: This study included three patients, two female and one male with relapsing arthritis that has been located on hip joints as a sole manifestation and pathologic findings of MEFV mutations as follow: A744S, V726A, and R761H. Conclusion: On the basis of possible role of MEFV gene in different rheumatic disease RSH could be considered as a MEFV gene related arthritis. Key words: FMF, MEFV gene, Recurrent synovitis of hip in children
Cardiovascular diagnostic information about blood pressure, arterial stiffness and atrial fibrillation is contained in oscillometric blood pressure profiles and is extractable by mathematical analysis
Authors: Hullender David Allan , Brown Olen R. 
Published: December 2019

Abstract
Background: Oscillometric measurement of blood pressure is generally accepted as convenient and reasonable for home monitoring and increasingly is being used in the hospital setting. Oscillometric devices use a wrist or (less frequently) an upper arm cuff with an automated inflation/deflation cycle, a pressure sensor and microprocessor programmed with proprietary algorithms to produce values for heart rate, and systolic and diastolic blood pressures. There is reason for concern, however, about accuracy which decreases with pathology such as atrial fibrillation and arterial stiffness. Methods: Useful information is extractable from the pressure oscillations in the cuff generated by the blood flow as affected by the frequency and strength of the heart beat and interaction of the blood with the artery walls including changes produced by atherosclerosis. A mathematical model and nonlinear estimation algorithm are used to identify the blood pressure waveform and the stiffness properties of the artery walls in order to generate improved reliability for quantifying systolic and diastolic pressures and to detect and quantify arterial stiffness and atrial fibrillation. The mathematical model is based on previously tested and documented formulations for artery and cuff compliance; specifically, a differential equation with 15 unknown constants is formulated to describe an actual blood pressure waveform and the stiffness properties of an artery. Results: Simulation results demonstrate that a nonlinear estimation algorithm can use measured cuff pressure oscillations to accurately estimate and identify a hypothetical blood pressure waveform including cases with a variable heart rate rhythm and changing systolic and diastolic pressure levels. In addition, useful diagnostic information about arterial stiffness is present in the oscillations and was successfully quantified. Conclusions: Application of mathematical analysis to the blood pressure oscillometric model generated reliable information about the effects of irregularities in heart rate, including atrial fibrillation, and arterial stiffness on systolic and diastolic blood pressure levels. There are applications for blood pressure monitors designed for home use and for professional, diagnostic screening.
Diagnosis of left ventricular hypertrophybased on convolutional neural network
Authors: Jian Zini , Wang Xianpei , Zhang Jingzhe , Wang Xinyu , Deng Youbin 
Published: December 2019

Abstract
Background: Clinically, doctors obtain the left ventricular posterior wall thickness (LVPWT) mainly by observing ultrasonic echocardiographic video stream to capture a single frame of images with diagnostic significance, and then mark two key points on both sides of the posterior wall of the left ventricle with their own experience for computer measurement. In the actual measurement, the doctor's selection point is subjective, which is not only time-consuming and laborious, but also difficult to accurately locate the edge, which will bring errors to the measurement results. Methods: In this paper, a convolutional neural network model of left ventricular posterior wall positioning was built under the TensorFlow framework, and the target region images were obtained after the positioning results were processed by non-local mean filtering and opening operation. Then the edge detection algorithm based on threshold segmentation is used. After the contour was extracted by adjusting the segmentation threshold through prior analysis and the OTSU algorithm, the design algorithm completed the computer selection point measurement of the thickness of the posterior wall of the left ventricle. Results: The proposed method can effectively extract the left ventricular posterior wall contour and measure its thickness. The experimental results show that the relative error between the measurement result and the hospital measurement value is less than 15%, which is less than 20% of the acceptable repeatability error in clinical practice. Conclusions: Therefore, the method proposed in this paper not only has the advantage of less manual intervention, but also can reduce the workload of doctors.
Pattern of Genetic Diversity of Feral domestic cat populations in Lamu, Kenya and Iran suggest possible influence of historical trade between Persian Gulf and East African Coast
Authors: Adeola Adeniyi Charles , Agwanda Bernard R , Nanaei Hojjat Asadollahpour , Wu Yajiang , Liu Yan-Hu , Bita Caesar , Lichoti Jacqueline , Ommeh Sheila C , Charati Hadi , Peng Min-Sheng , Zhao Ruo-Han , Esmailizadeh Ali , Zhang Ya-Ping 
Published: December 2019

Abstract
Background: During Early Indian Ocean trade, many species of animals were transported along the routes and destinations especially in eastern Africa. The influence of this historical trade on genetic relationships of historically popular pets such as domestic cats, in East African Coast and Persian Gulf has never been evaluated. Herein, we analyzed variation in mitochondrial DNA sequences from one African wildcat together with 59 feral and domestic cats from East African coastal-Lamu (EAC-Lamu) (n=41) and Iran (n=18) to evaluate possibility of exchange of these animals during the historical trade. Results: From this analysis, all ND5 & ND6 sequences of EAC-Lamu and Iranian cats can be assigned into one haplogroup. The haplotype sharing pattern between these two regions is detected in the network. The whole genome analyses reveal cats from EAC-Lamu and Iran cluster into one branch whereas other cat breeds cluster separately into other branches. The demographic history inference further confirms the relationship between EAC-Lamu and Iranian indigenous cats split around 2,800 years ago, followed by gene flow as a result of human activities.Conclusions: Our results unveil the diversity and existing relationship between indigenous cats from Iran and EAC-Lamu due to historical trade. The current data do not permit us to make further conclusions; therefore, more research evidence from genetics and archaeology may provide further insights into the direction of genetic influence of this historical trade.
Construction of a ceRNA network combining transcription factors in eutopic endometrial tissue of tubal factor infertility and endometriosis-related infertility
Authors: Li Junzui , Ren Lulu , Yang Cui , Wu Rongfeng , Huang Zhixiong , Chen Qionghua 
Published: December 2019

Abstract
Purpose Although tubal factor infertility (TFI) and endometriosis-related infertility all can result in female infertility, the pathogenesis of TFI and endometriosis-related infertility were different. The pathophysiologic mechanisms of TFI and endometriosis-related infertility have not been investigated thoroughly. Thus, the aim of the study is to identify the potential crucial genes, pathways, transcription factors (TFs) and long non-coding RNAs (lncRNAs) associated with TFI and endometriosis-related infertility, and further analyze the molecular mechanism implicated in genes.Methods 3 patients with TFI and 3 patients with endometriosis-related infertility were recruited, and microarray hybridization of the eutopic endometrial tissue during the window of implantation (WOI) was performed to examine the expression of mRNAs and lncRNAs. First, differentially expressed genes (DEGs) and differentially expressed lncRNAs (DELs) were screened out based on P < 0.05 and fold change (FC) ≧ 2. Second, gene ontology, pathway and TFs enrichment analyses and PPI network construction of DEGs were performed. Then, important modules and Hub genes of PPI network were further analysed and a ceRNA network combining TFs based on DEGs and DELs was constructed. Finally, we selected the lapping genes of the important modules, Hub genes and the ceRNA network as potential key genes associated with TFI and endometriosis-related infertility and constructed a new ceRNA network on the base of potential key genes.Results 508 DEGs and 576 DELs were screened out. The gene ontology and pathway of DEGs were mainly enriched in transmembrane transporter activity and the immune system (eg, passive transmembrane transporter activity, Intestinal immune network for IgA production and so on). In addition, a ceRNA network (based on potential key genes) combining TFs including 2 mRNAs (PLAU and LDLR), 5 miRNAs (hsa-miR-301b-3p, hsa-miR-27a-3p, hsa-miR-20b-5p, hsa-miR-193a-3p and hsa-miR-17-5p), 8 lncRNAs (eg. LMO7-AS1, ITFG3 and MGST1, etc.) and 10 TFs (eg. SRF, FOX, which target to mRNA and eg. POU3F2, HNF1A, which target to miRNA) was successfully built.Conclusions In conclusion, pathophysiologic mechanisms of TFI and endometriosis related infertility may be related to the transmembrane transporter activity and the immune system. These potential key RNAs and TFs might have clinical utility for the diagnosis and prognosis prediction in TFI and endometriosis-related infertility. The results of the current study might lay the foundation for future basic and clinical research.
Integrated bioinformatics analysis of apolipoprotein M in thyroid cancer
Authors: wei jiang , Yu Yang , Zhang Jun. , Xu Ning , Luo Guanghua 
Published: December 2019

Abstract
Background Throid cancer is one of the most common cancer worldwide and its mechanism of development remains elusive.Apolipoprotein M (ApoM) is associated with lipid metabolism, inflammation and atherosclerosis, but the prognostic value of apoM in thyroid cancer has not been well studied.Methods In this study, transcriptional expression, survival, gene ontology and networks of apoM in patients with thyroid cancer were analyzed using integrated bioinformatics tools including UALCAN, GEO, LinkedOmics, GeneMANIA, STRING, CircNET and KOBAS.Results Results indicated that ApoM is decreased in thyroid cancer tissues and is therefore negatively associated with malignant clinicopathological parameters. However, Kaplan-Meier analyses showed that ApoM expression is not an independent and significant prognostic factor for overall survival in thyroid cancer. LinkedOmicsConclusions These results indicate that integrated bioinformatics analysis provide valuable information on apoM expression and potential regulatory networks in thyroid cancer. This information will be crucial in understanding the role of apoM in thyroid carcinogenesis.
Microwave assisted the short time clean synthesis of 1,3-Diketones as Building Blocks in Heterocyclic Synthesis: A Facile Synthesis and Antimicrobial Evaluation of New Dihydropyridine, 4H-Pyrane, Dihydropyridazine, Pyrimidine and Pyrazole derivatives
Authors: abdelreheim mohamed ahmed , Hafiz Ibrahim Saad Abdel , Rady Hend Saad Eldin Abdel 
Published: December 2019

Abstract
Background: According to literature survey, the compounds bearing naphthalene moiety can be used as medical preparations because of their wide spectrum of biological activity and low toxicity. In this study, a new series of azoles or azines were synthesized from the reaction of the key intermediate 1-(1-hydroxynaphthalen-2-yl)-3-phenylpropane-1,3-dione 3 with a variety of electrophilic and nucleophilic reagents under a variety of mild conditions. Results: The chemical structures of these compounds were confirmed by various spectroscopic methods such as (IR, 1H-NMR, 13C-NMR, mass spectral data and elemental analyses). Conclusions: The prepared compounds were screened in vitro for their antimicrobial activity against some species of Gram-positive bacteria (Staphylococcus aureus and Bacillus subtilis) and Gram-negative bacteria (Escherichia coli and Pseudomonas aeuroginosa). Anti-fungal activities of the compounds were tested against yeast and mycelial fungi,Candida albicans and Aspergillus flavus. The antimicrobial activity of this series was showed either weak or moderate activities.