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The genetic basis of deafness in populations of African descent

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Journal of Genetics and Genomics 2017年第6期44卷 285-294页

作者： jason r.rudman rosemary I.Kabahuma Sara E.Bressler Yong Feng Susan H.Blanton Denise Yan Xue-Zhong Liu Department of Otolaryngology University of Miami Miller School of Medicine Department of Otorhinolaryngology Steve Biko Academic HospitalUniversity of Pretoria Department of Otolaryngology Xiangya HospitalCentral South University Dr. John T.Macdonald Foundation Department of Human Genetics University of Miami Miller School of Medicine John P.Hussman Institute for Human Genomics University of Miami Miller School of Medicine

Hearing loss is the most common sensorineural disorder worldwide and is associated with more than1000 mutations in more than 90 genes. While mutations in genes such as GJB2(gap-junction protein β 2)and GJB6(gap-junction protein β 6) are highly prevalent in Caucasian, Asian, and Middle Eastern populations, they are rare in both native African populations and those of African descent. The objective of this paper is to review the current knowledge regarding the epidemiology and genetics of hearing loss in African populations with a focus on native sub-Saharan African populations. Environmental etiologies related to poor access to healthcare and perinatal care account for the majority of cases. Syndromic etiologies including Waardenburg, Pendred and Usher syndromes are uncommon causes of hearing loss in these populations. Of the non-syndromic causes, common mutations in GJB2 and GJB6 are rarely implicated in populations of African descent. recent use of next-generation sequencing(NGS) has identified several candidate deafness genes in African populations from Nigeria and South Africa that are unique when compared to common causative mutations worldwide. researchers also recently described a dominant mutation in MYO3α in an African American family with non-syndromic hearing loss. The use of NGS and specialized panels will aid in identifying rare and novel mutations in a more cost-and timeeffective manner. The identification of common hearing loss mutations in indigenous African populations will pave the way for translation into genetic deafness research in populations of African descent worldwide.

关键词： Genetic Hearing loss Deafness African

AN APPrOACH TOWArDS HOLISM IN SCIENCE AND ENGINEErING

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Journal of Systems Science and Systems Engineering 2010年第3期19卷 285-305页

作者： jason SHErWIN Department of Aerospace Engineering Georgia Institute of Technology

This paper posits the desirability of a shift towards a holistic approach over reductionist approaches in the understanding of complex phenomena encountered in science and engineering. An argument based on set theory is used to analyze three examples that illustrate the shortcomings of the reductionist approach. Using these cases as motivational points, a holistic approach to understand complex phenomena is proposed, whereby the human brain acts as a template to do so. recognizing the need to maintain the transparency of the analysis provided by reductionism, a promising computational approach is offered by which the brain is used as a template for understanding complex phenomena. Some of the details of implementing this approach are also addressed.

关键词： reductionism holism agent-based modeling linearizations multi-disciplinary optimization complex phenomena understanding Markov-chain vector space hierarchical temporal memories neuroscience-influenced computing

review and synthesis of the effects of climate change on amphibians

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Integrative Zoology 2013年第2期8卷 145-161页

作者： Yiming LI Jeremy M.COHEN jason r.rOHr Key Laboratory of Animal Ecology and Conservation Biology Institute of ZoologyChinese Academy of SciencesBeijingChina Department of Integrative Biology University of South FloridaTampaFLUSA

Considerable progress has been made in understanding the responses of amphibians to climate change,with successful research carried out on climate change-associated shifts in amphibian phenology,elevational distributions and amphibian-parasite *** review and synthesize the literature on this topic,emphasizing acutely lethal,sublethal,indirect and positive effects of climate change on amphibians,and major research *** instance,evidence is lacking on poleward shifts in amphibian distributions and on changes in body sizes and morphologies of amphibians in response to climate *** have limited information on amphibian thermal tolerances,thermal preferences,dehydration breaths,opportunity costs of water conserving behaviors and actual temperature and moisture ranges amphibians *** when much of this information is available,there remains little evidence that climate change is acutely lethal to *** suggests that if climate change is contributing to declines,it might be through effects that are not acutely lethal,indirect,or both,but evidence in support of this suggestion is *** fact,evidence that climate change is directly contributing to amphibian declines is weak,partly because researchers have not often ruled out alternative hypotheses,such as chytrid fungus or climate-fungus ***,we recommend that amphibian-climate research shift from primarily inductive,correlational approach as to studies that evaluate alternative hypotheses for *** additional rigor will require interdisciplinary collaborations,estimates of costs and benefits of climate change to amphibian fitness and populations,and the integration of correlative field studies,experiments on‘model’amphibian species,and mathematical and functional,physiological models.

关键词： amphibian decline Batrachochytrium dendrobatidis breeding date climate-linked epidemic hypothesis global warming

APPLYING PrOJECT BASED LEArNING IN AN UNDErGrADUATE DESIGN AND CONSTrUCTION PrOGrAM AT APPALACHIAN STATE UNIVErSITY

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Journal of Green Building 2018年第4期13卷 147-165页

作者： James A russell Chelsea r Helms r Chadwick Everhart D jason Miller Associate Professor of Building Science Department of Sustainable Technology and the Built Environment(STBE)Appalachian State University397 Rivers StreetBooneNC28608 Practitioner in residence Department of Sustainable Technology and the Built Environment(STBE)Appalachian State University397 Rivers StreetBooneNC28608 Principal Chad Everhart ArchitectPAWilliamsburgKY40769 Associate Professor Department of Sustainable Technology and the Built Environment(STBE)Appalachian State University397 Rivers StreetBooneNC28608.

INTrODUCTION Project based learning(PBL)fully engages students in the subject area,promotes teamwork,transdisciplinary collaboration,allows student teams to engage and solve community design problems and can ultimately lead to broader student ***,however,presents significant curricular challenges,including project definition and meaningful student *** authors began the process of exploring PBL through a National Science Foundation Transformation Undergraduate Education in Science,Technology,Engineering and Mathematics(TUES)*** program was piloted for two semesters under the TUES award and has now completed its eighth semester overall operating as a special curricular track in parallel with an existing,traditional curricular program in Building *** four years of dedicated PBL program experience to inform their efforts,the authors are currently reworking the existing Building Science program curriculum to fully integrate a PBL capstone during the senior year while establishing a clear curricular path,creating a sound base of projects,and maintaining resource limits that include,but are not limited to,facilities,materials and *** this paper,the authors discuss their successes and difficulties with imple-menting PBL in an undergraduate design and construction program by reviewing twelve years of both spontaneous and planned project based PBL experiences in an undergraduate design and construction program.

关键词： project based learning curriculum reform integrated design design-build

A pathophysiology-based approach to the management ot early priapism

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Asian Journal of Andrology 2013年第1期15卷 20-26页

作者： jason r Kovac Siu K Mak Maurice M Garcia Tom FLue Scott Department of Urology Baylor College of Medicine Houston TX 77030 USA The Chinese University of Hong Kong Department of Surgery Prince of Wales HosPital Hong Kong China Department of Urology University of California San Francisco CA 94143 USA

Priapism is a rare condition that involves persistent penile erection for greater than 4 h. Distinct variants exist, each with unique characteristics. Ischemic priapism is a painful medical emergency that may occur as a result of veno-occlusion leading to hypoxia and tissue death. recurrent bouts of ischemic priapism, or stuttering priapism, require treatment for individual attacks as well as long-term prevention. Non-ischemic priapism is associated with trauma and may be managed conservatively. recent advances into the pathophysiology of priapism have allowed the development of treatment algorithms that specifically target the mechanisms involved. In this review, we outline the basics of smooth muscle contraction and describe how derangement of these pathways results in priapism. A pathophysiological approach to the treatment of priapism is proposed with duration-based algorithms presented to assist in management.

关键词： algorithm ischemic management priapism T-shunt tunneling

Single-atom spintronics

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中国有色金属学会会刊：英文版 2006年第B01期16卷 146-153页

作者： Susan Z.HUA Matthew r.SULL IVAN jason N.ArMSTrONG Materials Program Mechanical and Aerospace Engineering DepartmentState University of New York at BuffaloBuffaloNY 14260USA

recent work on magnetic quantum point contacts (QPCs) was discussed. Complete magnetoresistance loops across Co QPCs as small as a single atom was measured. The remarkable feature of these QPCs is the rapid oscillatory decay in magnetoresistance with the increase of contact size. In addition, stepwise or quantum magnetoresistance loops are observed, resulting from varying transmission probability of the available discrete conductance channels because the sample is cycled between the ferromagnetic (F) and antiferromagnetic (AF) aligned states. Quantized conductance combined with spin dependent transmission of electron waves gives rise to a multi-channel system with a quantum domain wall acting as a valve, i.e., a quantum spin-valve. Behavior of a few-atom QPC is built on the behavior of a single-atom QPC and hence the summarization of results as ‘single-atom spintronics’. An evolutionary trace of spin-dependent electron transmission from a single atom to bulk is provided, the requisite hallmarks of artefact-free magnetoresistance is established across a QPC – stepwise or quantum magnetoresistance loops and size dependent oscillatory magnetoresistance.

关键词：单原子自旋电子学量子点接触电子波导振荡磁阻

Assessment of scapulohumeral rhythm for scapular plane shoulder elevation using a modified digital inclinometer

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World Journal of Orthopedics 2012年第6期3卷 87-94页

作者： jason S Scibek Christopher r Carcia Department of Athletic Training School of Health Sciences Duquesne UniversityJohn G Rangos Sr.Pittsburgh PA 15282 United States Department of Physical Therapy School of Health Sciences Duquesne UniversityJohn G Rangos Sr.Pittsburgh PA 15282 United States

AIM: To develop a better understanding of scapulohumeral rhythm during scapular plane shoulder ***: Thirteen healthy, college-aged subjects participated in this study. Subjects were free from any upper extremity, neck or back pathology. A modified digital inclinometer was utilized to measure scapular upward rotation of the subject's dominant shoulder. Upward rotation was measured statically as subjects performed clinically relevant amounts of shoulder elevation in the scapular plane. Testing order was randomized by arm position. Scapular upward rotation was assessed over the entire arc of motion and over a series of increments. The percent contributions to shoulder elevation for the scapula and glenohumeral joint were calculated. Scapulohumeral rhythm was assessed and represented the ratio of glenohumeral motion to scapulothoracic motion(glenohumeral elevation: scapular upward rotation). A one-way ANOVA wasused to compare scapular upward rotation between elevation ***: Scapulohumeral rhythm for the entire arc of shoulder elevation was equal to a ratio of 2.34 :1 and ranged from 40.01:1 to 0.90:1 when assessed across the different increments of humeral elevation. Total scapular motion increased over the arc of shoulder elevation. The scapula contributed 2.53% of total motion for the first 30 degrees of shoulder elevation, between 20.87% and 37.53% for 30o-90 o of shoulder elevation, and 52.73% for 90o-120 o of shoulder elevation. Statistically significant differences in scapular upward rotation were identified across the shoulder elevation increments [F(3,48) = 12.63, P = 0.0001].CONCLUSION: Clinically, we must recognize the usefulness of the inclinometer in documenting the variable nature of scapulohumeral rhythm in healthy and injured shoulders.

关键词： Biomechanics Kinematics Scapula Shoulder

Temperature and mass scaling affect cutaneous and pulmonary respiratory performance in a diving frog

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Integrative Zoology 2021年第5期16卷 712-728页

作者： ryan B.MCWHINNIE jason P.SCKrABULIS Thomas r.rAFFEL Department of Biological Sciences Oakland UniversityRochesterMichiganUSA

Global climate change is altering patterns of temperature variation,with unpredictable consequences for species and *** Metabolic Theory of Ecology(MTE)provides a powerful framework for predicting climate change impacts on ectotherm metabolic *** postulates that physiological and ecological processes are limited by organism metabolic rates,which scale predictably with body mass and *** purpose of this study was to determine if different metabolic proxies generate different empirical estimates of key MTE model parameters for the aquatic frog Xenopus laevis when allowed to exhibit normal diving *** used a novel methodological approach in combining a flow-through respirometry setup with the open-source Arduino platform to measure mass and temperature effects on 4 different proxies for whole-body metabolism(total O_(2) consumption,cutaneous O_(2) consumption,pulmonary O_(2) consumption,and ventilation frequency),following thermal acclimation to one of 3 temperatures(8℃,17℃,or 26℃).Different metabolic proxies generated different mass-scaling exponents(b)and activation energy(EA)estimates,highlighting the importance of metabolic proxy selection when parameterizing MTE-derived *** acclimated to 17℃ had higher O_(2) consumption across all temperatures,but thermal acclimation did not influence estimates of key MTE parameters EA and *** respiration generated lower MTE parameters than pulmonary respiration,consistent with temperature and mass constraints on dissolved oxygen availability,SA:V ratios,and diffusion distances across *** results show that the choice of metabolic proxy can have a big impact on empirical estimates for key MTE model parameters.

关键词： African clawed frog amphibian pneumotachography thermal biology

NUCLEAr NON-PrOLIFErATION AND INTErNATIONAL SECUrITY:A DrAMA THEOrETIC APPrOACH

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Journal of Systems Science and Systems Engineering 2009年第4期18卷 437-460页

作者： jason K. LEVY Wilder School of Government and Public Affairs Virginia Commonwealth University

While game theoretic tools have been widely applied to nuclear proliferation and disarmament issues, traditional decision analysis assumes that decision makers, options, and preferences are fixed. A drama theoretic approach is used to overcome these limiting assumptions： Drama Theory （DT） II allows global leaders and national security policy makers to engage in a rational-emotional process of re-defining international security negotiations （and their ＂positions＂ in them） Until agreement on a satisfactory nuclear non-proliferation resolution is reached. The 2009 nuclear energy negotiations between Iran and world powers are modeled with DT II and the Confrontation ManagerTM Decision Support System. By adjusting strategy and deriving transformative security policy, it is shown how international security can be achieved by promoting nuclear non-proliferation and resolving strategic conflict.

关键词： Nuclear non-proliferation strategic conflict drama theory international security