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interpretation, Stratification and Evidence for Sequence Variants Affecting mRNA Splicing in Complete Human Genome Sequences

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Genomics, Proteomics & Bioinformatics 2013年第2期11卷 77-85页

作者： Ben C.Shirley Eliseos J.Mucaki Tyson Whitehead paul i.costea Pelin Akan Peter K.Rogan Department of Computer Science Middlesex CollegeThe University of Western Ontario Department of Biochemistry Schulich School of Medicine and DentistryThe University of Western Ontario SHARCNET Royal institute of Technology Science for Life Laboratory Cytognomix inc.

information theory-based methods have been shown to be sensitive and specific for pre- dicting and quantifying the effects of non-coding mutations in Mendelian diseases. We present the Shannon pipeline software for genome-scale mutation analysis and provide evidence that the soft- ware predicts variants affecting mRNA splicing. individual information contents （in bits） of refer- ence and variant splice sites are compared and significant differences are annotated and prioritized. The software has been implemented for CLC-Bio Genomics platform. Annotation indicates the context of novel mutations as well as common and rare SNPs with splicing effects. Potential natural and cryptic mRNA splicing variants are identified, and null mutations are distinguished from leaky mutations. Mutations and rare SNPs were predicted in genomes of three cancer cell lines （U2OS, U251 and A431）, which were supported by expression analyses. After filtering, tractable numbers of potentially deleterious variants are predicted by the software, suitable for further laboratory investigation. in these cell lines, novel functional variants comprised 6-17 inactivating mutations, 1 5 leaky mutations and 6-13 cryptic splicing mutations. Predicted effects were validated by RNA-seq analysis of the three aforementioned cancer cell lines, and expression microarray analysis of SNPs in HapMap cell lines.

关键词： Mutation mRNA splicing information theory Next-generation sequencing Genome interpretation

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Evidence supporting the relationship between maternal asthma and risk for autism spectrum disorders

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Neural Regeneration Research 2025年第4期20卷 1101-1102页

作者： Hadley Osman paul Ashwood Department of Medical Microbiology and immunology and the M.I.N.D.InstituteUniversity of California at DavisSacramentoCAUSA

During pregnancy,maternal immune activation(MiA),due to infection,chronic inflammatory disorders,or toxic exposures,can result in lasting health impacts on the developing *** has been associated with an increased risk of neurodevelopmental disorders,such as autism spectrum disorder(ASD)in the *** is characterized by increased repetitive and stereotyped behaviors and decreased *** of 2020,1 in 36 children are diagnosed with ASD by the age of 8 years,with ASD rates continuing to increase in prevalence in USA(Tamayo et al.,2023).Post-mortem brain studies,biomarker and transcriptomic studies,and epidemiology studies have provided compelling evidence of immune dysregulation in the circulation and brain of individuals diagnosed with ***,the etiology of ASD is largely unknown,however,genetic components and environmental factors can contribute to increased *** allergic asthma(MAA),a form of MiA,has been identified as a potential risk factor for developing neurodevelopmental disorders(Patel et al.,2020).Asthma is a chronic inflammatory condition driven by a T-helper type(TH)2 immune response.

关键词： disorders epidemiology fetus

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Mucinous appendiceal neoplasm:A case report

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World Journal of Clinical Cases 2021年第7期9卷 1728-1733页

作者： Alexandru Chirca Lucian Negreanu Andreea iliesiu Radu costea Surgery ii Department University HospitalCarol Davila UniversityBucharestBucharest 050098Romania Gastroenterology ii Department University HospitalCarol Davila UniversityBucharestBucharest 050098Romania Pathology Department University HospitalCarol Davila UniversityBucharestBucharest 050098Romania

BACKGROUND Primary appendiceal tumors are histologically diverse and have an insidious onset and few specific clinical *** the majority of cases,these tumors are discovered after appendectomy during pathological exam of the resected *** may include appendectomy(simple or radical)and right hemicolectomy depending on factors such as histological type,tumor size and lymph node/organ *** aim of this case study is to describe a rare case of a giant appendicular mucocele and raise awareness of this condition and its management options and follow-up *** SUMMARY We present the case of a 43-year-old patient who presented to our emergency department with mild right lower quadrant *** the initial check-up and imaging exams,he underwent surgery,where a giant 20 cm×13 cm appendicular tumor was found and *** mucocele was suspected due to the macroscopic appearance and was later confirmed by the pathological *** patient’s postoperative evolution was uneventful,and after discharge,he was included in our follow-up *** in conclusion,mucinous appendiceal neoplasms embody a rare pathology;they are asymptomatic or have few,unspecific clinical signs and in many cases are discovered after appendectomy.

关键词： Appendiceal tumors Appendicular mucocele Mucinous appendiceal neoplasms Case report

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ELECTROACTiVE AND NANOSTRUCTURED POLYMERS AS SCAFFOLD MATERiALS FOR NEURONAL AND CARDiAC TiSSUE ENGiNEERiNG

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Chinese Journal of Polymer Science 2007年第4期25卷 331-339页

作者： paul Bidez Elizabeth Guterman-Tretter Alan G. MacDiarmid Peter i. Lelkes 危岩 School of Biomedical Engineering Science & Health SystemsDrexel UniversityPhiladelphiaPA 19104USA School of Biomedical Engineering Science & Health SystemsDrexel UniversityPhiladelphiaPA 19104USA Department of ChemistryDrexel UniversityPhiladelphiaPA 19104USA Department of Chemistry University of PennsylvaniaPhiladelphiaPA 19104USA

Conducting polymer, polyaniline （PANi）, has been studied as a novel electroactive and electrically conductive material for tissue engineering applications. The biocompatibility of the conductive polymer can be improved by （i） covalently grafting various adhesive peptides onto the surface of prefabricated conducting polymer films or into the polymer structures during the synthesis, （ii） co-electrospinning or blending with natural proteins to form conducting nanofibers or films, and （iii） preparing conducting polymers using biopolymers, such as collagen, as templates. in this paper, we mainly describe and review the approaches of covalently attaching oligopeptides to PANi and electrospinning PANi-gelatin blend nanofibers. The employment of such modified conducting polymers as substrates for enhanced cell attachment, proliferation and differentiation has been investigated with neuronal PC-12 cells and H9c2 cardiac myoblasts. For the electrospun PANi- gelatin fibers, depending on the concentrations of PANi, H9c2 cells initially displayed different morphologies on the fibrous substrates, but after one week all cultures reached confluence of similar densities and morphologies. Furthermore, we observed, that conductive PANi, when maintained in an aqueous physiologic environment, retained a significant level of electrical conductivity for at least 100 h, even though this conductivity was decreasing over time. Preliminary data show that the application of micro-current stimulates the differentiation of PC-12 cells. All the results demonstrate the potential for using PANi as an electroactive polymer in the culture of excitable cells and open the possibility of using this material as an electroactive scaffold for cardiac and/or neuronal tissue engineering applications that require biocompatibility of conductive polymers.

关键词： Polyaniline Conductive polymer Biocompatibility Tissue engineering.

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Plasticity of spermatogonial stem cells

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Asian Journal of Andrology 2015年第3期17卷 355-359页

作者： paul S Cooke Liz Simon Manjunatha K Nanjappa Theresa i Medrano Suzanne E Berry Department of Physiological Sciences College of Veterinary Medicine University of Florida Gainesville FL 32608 USA Department of Physiology Louisiana State University Health Sciences Center New Orleans LA 70112 USA Department of Comparative Biosciences College of Veterinary Medicine University of Illinois at Urbana-Champaign Urbana IL 61802 USA

There have been significant breakthroughs over the past decade in the development and use of pluripotent stem cells as a potential source of cells for applications in regenerative medicine. it is likely that this methodology will begin to play an important role in human clinical medicine in the years to come. This review describes the plasticity of one type of pluripotent cell, spermatogonial stem cells （SSCs）, and their potential therapeutic applications in regenerative medicine and male infertility. Normally, SSCs give rise to sperm when in the testis. However, both human and murine SSCs can give rise to cells with embryonic stem （ES） cell-like characteristics that can be directed to differentiate into tissues of all three embryonic germ layers when placed in an appropriate inductive microenvironment, which is in contrast to other postnatal stem cells. Previous studies have reported that SSCs expressed an intermediate pluripotent phenotype before differentiating into a specific cell type and that extended culture was necessary for this to occur. However, recent studies from our group using a tissue recombination model demonstrated that SSCs differentiated rapidly into another tissue, in this case, prostatic epithelium, without expression of pluripotent ES cell markers before differentiation. These results suggest that SSCs are capable of directly differentiating into other cell types without going through an intermediate ES cell-like stage. Because SSCs do not require reprogramming to achieve a pluripotent state, they are an attractive source of pluripotent cells for use in regenerative medicine.

关键词： pluripotency regenerative medicine spermatogenesis testis

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impact of guideline adherence and race on asthma control in children

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World Journal of Pediatrics 2021年第5期17卷 500-507页

作者： Shahid i.Sheikh Nancy A.Ryan-Wenger Judy Pitts Rodney Britt Jr Grace paul Lisa Ulrich Department of Pediatrics The Ohio State University College of MedicineColumbus.OH.USA Section of Pulmonary Medicine Nationwide Children's HospitalED 544 Education Building700 Children's DriveColumbusOHUSA Department of Perinatal Research Wexner Research CenterColumbusOH.USA

Background Asthma control in African Americans(AA)is considered more difficult to achieve than in Caucasian Americans(CA).The aim of this study was to compare asthma control over time among AA and CA children w hose asthma is managed per NAEPP(EPR-3)*** This was a one-year prospective study of children referred by their primary care physicians for better asthma care in a specialty asthma *** children received asthma care per NAEPP *** were compared between CA and AA children at baseline and then at three-month intervals for one *** Of the 345 children,ages 2-17 years(mean=6.2±4),220(63.8%)were CA and 125(36.2%)were *** were no significant differences in demographics other than greater pet ownership in CA *** baseline,AA children had significantly more visits to the Emergency Department for acute asthma symptoms(mean=2.3±3)compared to CA(1.4±23,P=0.003).There were no other significant differences in acute care utilization,asthma symptoms(mean days/month),or mean asthma control test(ACT)scores at base *** 3-6 months,in both groups,mean ACT scores,asthma symptoms and acute care utilization significantly improved(Pime in both groups was comparable except for a significantly greater decrease in ED visits in AA children compared to CA children(P=002).Conclusion Overall,improvement in asthma control during longitudinal assessment was similar between AA and CA children because of consistent use of NAEPP asthma care guidelines.

关键词： Asthma Asthma control Children Guideline adherence Race

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Application of artificial intelligence in predicting the dynamics of bottom hole pressure for under-balanced drilling:Extra tree compared with feed forward neural network model

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Petroleum 2022年第2期8卷 227-236页

作者： Emmanuel E.Okoro Tamunotonjo Obomanu Samuel E.Sanni David i.Olatunji paul igbinedion Petroleum Engineering Department Covenant UniversityOtaNigeria Petroleum Engineering Department Federal Polytechnic of Oil and GasBonnyNigeria Chemical Engineering Department Covenant UniversityOtaNigeria

This study used six fields data alongside correlation heat map to evaluate the field parameters that affect the accuracy of bottom hole pressure(BHP)*** six oil field data were acquired using measurement while drilling device to collect surface measurements of the downhole pressure data while *** the two case studies,measured field data of the wellbore filled with gasified mud system was utilized,and the wellbores were drilled using rotary jointed drill *** Randomized Tree and feed forward neural network algorithms were used to develop models that can predict with high accuracy,BHP from measured field *** modeling purpose,an extensive data from six fields was used,and the proposed model was further validated with two data from two new *** gathered data encompasses a variety of well data,general information/data,depths,hole size,and *** developed model was compared with data obtained from two new fields based on its capability,stability and *** result and model’s performance from the error analysis revealed that the two proposed Extra Tree and Feed Forward models replicate the bottom hole pressure data with R2 greater than *** high values of R^(2) for the two models suggest the relative reliability of the modelling *** magnitudes of mean squared error and mean absolute percentage error for the predicted BHPs from both models range from 0.33 to 0.34 and 2.02%-2.14%,for the Extra tree model and 0.40-0.41 and 3.90%e3.99%for Feed Forward model respectively;the least errors were recorded for the Extra Tree ***,the mean absolute error of the Extra Tree model for both fields(9.13-10.39 psi)are lower than that of the Feed Forward model(10.98-11 psi),thus showing the higher precision of the Extra Tree model relative to the Feed Forward *** has shown that underbalanced operation does not guarantee the improvement of horizontal well’s extension ability,because it mainly depends on t

关键词： Artificial intelligence Bottom hole pressure Extra tree Predictive model Oil and gas Feed forward algorithms

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Penetrating ectopic peptic ulcer in the absence of Meckel's diverticulum ultimately presenting as small bowel obstruction

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World Journal of Gastroenterology 2007年第46期13卷 6281-6283页

作者： Hilary Hurley Ronan A Cahill paul Ryan Ashraf i Morcos Henry P Redmond Helen M Kiely Department of Surgery Cork University HospitalCorkIreland Department of Pathology Cork University HospitalCorkIreland Department of Gastroenterology Mercy University HospitalCorkIreland

We report here how a heterotopic penetrating peptic ulcer progressed to cause small bowel obstruction in a pa- tient with multiple previous negative investigations. The clinical presentation, radiographic features and patho- logical findings of this case are described, along with the salient lessons learnt. The added value of wireless cap- sule endoscopy （WCE） in such circumstances is debated.

关键词： Non-Meckelean ectopic peptic ulcer Bowel obstruction

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Numerical modeling of sediment flushing from Lewis and Clark Lake

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international Journal of Sediment Research 2013年第2期28卷 182-193页

作者： Jungkyu AHN Chih Ted YANG paul M.BOYD Daniel B.PRiDAL John i.REMUS Civil and Environmental Engineering Department Seoul National UniversitySeoulRepublic of Korea Research Fellow Water Resources and Director of Hydroscience and Training Center Civil and Environmental Engineering DepartmentColorado State UniversityFort CollinsCOUSA80526 Borland Professor U.S.Army Corps of Engineers OmahaNebraskaUSA Hydraulic Engineer Sedimentation and Channel Stabilization Section U.S.Army Corps of EngineersOmahaNebraskaUSA Chief

Lewis and Clark Lake is located on the main stream of the Missouri *** reservoir is formed behind Gavins Point dam near Yankton,South Dakota,*** Lewis and Clark Lake reach extends about 40 km from the Gavins Point *** reservoir delta has been growing since the closure of Gavins Point dam in 1955 and has resulted in a 21%reduction of storage within the maximum pool of the *** several sediment management methods,drawdown flushing has been recommended as a possible management *** engineering viability of removing sediments deposited in the lake should be examined by numerical modeling before implementing a drawdown ***4 was used for this study and calibrated by using measured data from 1975 to *** cross-section changes and amount of flushed sediment were predicted with four hypothetical flow *** flushing efficiencies of all scenarios were estimated by comparing the ratios between water consumption and flushed sediment during flushing.

关键词： Drawdown flushing Flushing efficiency GSTARS computer model Reservoir sedimentation Sediment transport Lewis and Clark Lake

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On the Contribution of Wu Wen-Tsün to Algebraic Topology

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Journal of Systems Science & Complexity 2019年第1期32卷 3-36页

作者： BRASSELET Jean-paul i2M (CNRS)-Aix-Marseille University

The aim of this article is to present the contribution of Wu Wen-Tsün to Algebraic Topology and more precisely to the theory of characteristic classes. Several papers provide complete and welldocumented biography and academic career of Wu Wen-Tsün, in particular, Hudecek, 2014; O'Connor and Robertson, 2006; Wen-Tsün Wu's Academic Career, 2006; Selected works of Wen-Tsun Wu, *** author does not repeat the details provided in these papers concerning the Wu Wen-Tsün's bibliography, we will just mention people involved in the Wu Wen-Tsün's period in *** addition to Wu Wen-Tsün's papers, the Dieudonné's book(Dieudonné, 1960) provides an excellent presentation of main results of Wu Wen-Tsün in Algebraic and Differential Topology. The author will use and abuse of this book(and refer to) when *** the introduction, the author recalls mainly historical facts concerning the contribution of Wu Wen-Tsün to Algebraic Topology. The second section shows speci?cally the contribution of Wu WenTsün to the Stiefel-Whitney classes and introduces the third section, dealing with the(real) Wu *** author provides de?nition, properties as well as further developments and generalizations of the Wu classes. The fourth and ?fth sections are devoted to recent applications: in Cobordism theory and in Mathematical Physics. The author notices that Wu classes have been used as well in other domains,in particular surgery theory(Madsen and Milgram, 1979). The last section concerns the complex Wu classes and shows that the more recent Mather classes coincide with the previously de?ned complex Wu classes, that is a result from Zhou(1994)(see also Liu, 1996).This article is devoted to the contribution of Wu Wen-Tsün to the theory of Characteristic Classes,which coincides with his "French period"(1947–1951). However, speaking of Algebraic Topology, it is worthwhile to mention the important contribution of Wu Wen-Tsün to the Theory of realization of complexes or manifolds in Eucl

关键词： Algebraic topology characteristic class cobordism theory mathematical physics Wu Class

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