Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure

Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1, Elejalde), RAB27A (GS2) or MLPH (GS3) genes. Typical features of all three subtypes of this disease include pigmentary dilution of the hair and skin and silvery-gray hair. Whereas the GS3 phenotype is restricted to the pigmentation dysfunction, GS1 patients also show primary neurological impairment and GS2 patients have severe immunological deficiencies that lead to recurrent infections and hemophagocytic syndrome. We report here the diagnosis of GS2 in 3-year-old twin siblings, with silvery-gray hair, immunodeficiency, hepatosplenomegaly and secondary severe neurological symptoms that culminated in multiple organ failure and death. Light microscopy examination of the hair showed large, irregular clumps of pigments characteristic of GS. A homozygous nonsense mutation, C-T transition (c.550C>T), in the coding region of the RAB27A gene, which leads to a premature stop codon and prediction of a truncated protein (R184X), was found. In patient mononuclear cells, RAB27A mRNA levels were the same as in cells from the parents, but no protein was detected. In addition to the case report, we also present an updated summary on the exon/intron organization of the human RAB27A gene, a literature review of GS2 cases, and a complete list of the human mutations currently reported in this gene. Finally, we propose a flow chart to guide the early diagnosis of the GS subtypes and Chédiak-Higashi syndrome.

Energy Consumption of Applications on Mobile Phones

Battery consumption in mobile applications development is a very important aspect and has to be considered by all the developers in their applications. This study will present an analysis of different relevant concepts and parameters that may have impact on energy consumption of Windows Phone applications. This operating system was chosen because there is limited research even though there are related studies for Android an iOS operating systems. Furthermore, another reason is the increasing number of Windows Phone users. The objective of this research is to categorise the energy consumption parameters (e.g. use of one thread or several thread for the same output). The result for each group of experiment will be analyzed and a rule will be derived. The set of derived rules will serve as a guide for developers who intend to develop energy efficient Windows Phone applications. For each experiment, one application is created for each concept and the results are presented in two ways: a table and a chart. The table presents the duration of the experiment, the battery consumed by the experiment, the expected battery lifetime and the energy consumption, while the charts display the energy distribution based on the main threads: UI thread, application thread and network thread.

Design and Simulation of High-Speed Rotating Electrical Machinery

Global energy consumption has been increasing yearly and a big portion of it is used in rotating electrical machineries. It is clear that in these machines energy should be used efficiently. In this dissertation the aim is to improve the design process of high-speed electrical machines especially from the mechanical engineering perspective in order to achieve more reliable and efficient machines. The design process of high-speed machines is challenging due to high demands and several interactions between different engineering disciplines such as mechanical, electrical and energy engineering. A multidisciplinary design flow chart for a specific type of high-speed machine in which computer simulation is utilized is proposed. In addition to utilizing simulation parallel with the design process, two simulation studies are presented. The first is used to find the limits of two ball bearing models. The second is used to study the improvement of machine load capacity in a compressor application to exceed the limits of current machinery. The proposed flow chart and simulation studies show clearly that improvements in the high-speed machinery design process can be achieved. Engineers designing in high-speed machines can utilize the flow chart and simulation results as a guideline during the design phase to achieve more reliable and efficient machines that use energy efficiently in required different operation conditions.

Sähköautojen akkuteknologioiden tilannekatsaus

Tämän kandidaatintyön tavoitteena oli tutkia sähköautoissa käytettäviä akkuteknologioita ja verrata niiden ominaisuuksia keskenään sekä sähköautojen asettamien akkuvaatimusten kanssa. Akkuteknologiakartoituksen ja ominaisuusvertailun avulla tutkimuksessa oli tarkoitus selvittää sähköautojen akkujen kehitystä menneestä nykyhetkeen ja luoda katsaus akkuteknologian tulevaisuuteen. Tutkimuksessa painotettiin akkujen suorituskykynäkökulmaa, mutta tutkimuksessa otettiin kantaa myös eri akkuteknologioiden turvallisuuteen, ympäristötekijöihin ja hintaan. Työ toteutettiin kirjallisuustutkimuksena ja lähteinä käytettiin alan kirjallisuutta, IEEE artikkeleita, tutkimusraportteja ja verkkodokumentteja. Lisäksi tutkimuksessa hyödynnettiin akku- ja sähköautovalmistajilta saatavaa tietoa, johon suhtauduttiin varauksin. Tutkimuksessa kävi ilmi, että erilaisia litiumioniakkuteknologioita käytetään tällä hetkellä eniten sekä täyssähköautoissa että pistokehybrideissä. Huomattiin, että akkujen suorituskyvyn kehittyminen on nopeutunut viime vuosina. Erityisesti akkujen energianvarastointikykyyn vaikuttavat ominaisenergiatasot ovat kasvaneet selkeästi. Nykyisen kehittyneen litiumioniakkuteknologian todettiin täyttävän jo osittain lähivuosien suorituskykytavoitteet. Tutkimuksessa tultiin siihen tulokseen, että litiumrikkiakkuteknologia voi korvata litiumioniakkuteknologian ainakin täyssähköautoissa parempien ominaisenergiatasojen ja halvempien valmistuskustannuksien takia. Myös litiumilma-akkuteknologialla havaittiin olevan mahdollisuuksia haastaa muut litiumakkuteknologiat seuraavalla vuosikymmenellä. Tutkimuksen johtopäätöksenä todetaan, että sähköautot voivat kaupallistua laajemmin lähivuosina akkujen suorituskykyominaisuuksien kehittyessä jatkuvasti. Suorituskykyominaisuuksien parantuminen tulee todennäköisesti johtamaan siihen, että täyssähköautot yleistyvät enemmän ja pistokehybridit tulevat jäämään sähköautojen välivaiheeksi. Uusien akkuteknologioiden käyttöönotto kaupallisiin sähköautoihin voi viedä kuitenkin odotettua kauemmin, sillä akut tarvitsevat huolellista testausta ja käyttöönotto edellyttää, että kaikki ominaisuudet ovat vaaditulla tasolla.

Static waves in corporate space : characterizing oscillating trading patterns in New York stock exchange

Various researches in the field of econophysics has shown that fluid flow have analogous phenomena in financial market behavior, the typical parallelism being delivered between energy in fluids and information on markets. However, the geometry of the manifold on which market dynamics act out their dynamics (corporate space) is not yet known. In this thesis, utilizing a Seven year time series of prices of stocks used to compute S&P500 index on the New York Stock Exchange, we have created local chart to the corporate space with the goal of finding standing waves and other soliton like patterns in the behavior of stock price deviations from the S&P500 index. By first calculating the correlation matrix of normalized stock price deviations from the S&P500 index, we have performed a local singular value decomposition over a set of four different time windows as guides to the nature of patterns that may emerge. I turns out that in almost all cases, each singular vector is essentially determined by relatively small set of companies with big positive or negative weights on that singular vector. Over particular time windows, sometimes these weights are strongly correlated with at least one industrial sector and certain sectors are more prone to fast dynamics whereas others have longer standing waves.

The use of explicit algorithms and episodic context to teach subtraction to students with learning problems in mathematics /

This research attempted to address the question of the role of explicit algorithms and episodic contexts in the acquisition of computational procedures for regrouping in subtraction. Three groups of students having difficulty learning to subtract with regrouping were taught procedures for doing so through either an explicit algorithm, an episodic content or an examples approach. It was hypothesized that the use of an explicit algorithm represented in a flow chart format would facilitate the acquisition and retention of specific procedural steps relative to the other two conditions. On the other hand, the use of paragraph stories to create episodic content was expected to facilitate the retrieval of algorithms, particularly in a mixed presentation format. The subjects were tested on similar, near, and far transfer questions over a four-day period. Near and far transfer algorithms were also introduced on Day Two. The results suggested that both explicit and episodic context facilitate performance on questions requiring subtraction with regrouping. However, the differential effects of these two approaches on near and far transfer questions were not as easy to identify. Explicit algorithms may facilitate the acquisition of specific procedural steps while at the same time inhibiting the application of such steps to transfer questions. Similarly, the value of episodic context in cuing the retrieval of an algorithm may be limited by the ability of a subject to identify and classify a new question as an exemplar of a particular episodically deflned problem type or category. The implications of these findings in relation to the procedures employed in the teaching of Mathematics to students with learning problems are discussed in detail.

Effect of combined care nursing on patient satisfaction, staff satisfaction, and quality of care /

This research evaluates the effect of combined care nursing on three outcomes: i) patient satisfaction; ii) staff satisfaction; and iii) quality of care. Oakville-Trafalgar Memorial Hospital was in the early planning stages of changing to combined care nursing from the traditional method of providing separate postpartum and nursery care to mothers and babies. The opportunity existed to evaluate formally the change to combined care. There were three hypotheses to be investigated. Data were collected from four sources: patient surveys, staff surveys, informal interviews, and internal hospital documents. Both quantitative and qualitative data were analyzed. The surveys were administered on three different occasions to patients and staff. Other sources of data included informal interviews with patients and staff who responded to the surveys, and chart audits.The study findings revealed that the majority of respondents had increased levels of satisfaction and perceptions of increased quality of care following implementation of combined care. These findings, related to combined care and the role of change in its implementation and evaluation, indicate that there are no right or easy answers about how to make new ideas become reality in a smooth, pleasant way.

A cognitive schematic paradigm for expository essay writing in secondary schools

The methodology outlined in this study for teaching exposit ory writing to advanced (five year phase) grade eleven students is based on the assumption that writing as a problem solving strategy is a high level cognitive skill . In adhering to this assumption, a cognitively based schematic organizer known as a cross-classification chart was tested for its effectiveness a t the planning stage of the writing process . Results were not significant in any of the three components that were evaluated; however , a post- hoc analysis undertaken because of recorded observed data indicated a significant difference in the mean score on the Organization component for the treatment subgroup using the cross- classification organizer . Furthermore, the treatment group's positive response from the attitude survey towards planning writing is encouraging enough that replication and extension of the application of schema theory to wri ting should be pursued in cross-section and longitud i nal studies.

Identifying the psychosexual implications of radical radiation treatment in prostate cancer

The purpose of this study was to determine whether there was any evidence of psychosexual morbidity among men who experienced radical radiation treatment for prostate cancer. With relatively little known or available retrospective data on the psychosexual implications of radical radiation treatment in men with prostate cancer, this study posited eight research questions which provided the basis for the research. Fifty men from Southern Ontario, between the ages of 52 to 78 years, were included in the study. They had been previously randomized to a clinical trial comparing radical radiation therapy by external beam radiation, or radical radiation using a combination of a temporary iridium implant plus external beam radiation, for localized or locally advanced prostate cancer. Assessment of sexual functioning, drive, attitudes, body image, and sexual satisfaction was drawn from a multidimensional approach, since psychosexuality was viewed as having an impact on biological, psychological, and sociological domains of functioning. Medical chart reviews, semi-structured interviews, demographical profiles of each participant, and the Derogatis Sexual Functioning Inventory (DSFI) were the methods used to collect data over a four-month period. Both quantitative and qualitative research methods were incorporated in the design and evaluation of the study. Frequencies, contingency analysis, Pearson's coefficient of correlation, t-tests, and ANOVA comprised the quantitative analysis. Data obtained from audio-taped interviews were analyzed qualitatively, and used for offering further insight and for facilitating the quantitative aspect of the analysis. Overall, there was sufficient evidence to suggest psychosexual morbidity among men who were treated with radiation therapy for prostate cancer. As well,there were a number of significant findings available to answer all of the posited research questions. The most significant findings were noted in post-treatment erectile ability and sexual activity. A post-treatment change in erectile ability was reported by eighty percent of men. Sixty percent of men noted a decrease in their ability to achieve an erection by reporting some morning stiffness only, penile rigidity insufficient for penetration, decreased control of erection, and loss of spontaneous erection. Other contributing factors associated with change in erectile status were: pain or altering sensation of orgasm, blood in ejaculate, pain and decreased amount of ejaculate, and penile numbness or pain. Eighty-two percent of men experienced a post-treatment change in sexual function, primarily due to the impact of decreasing erectile status. Only seven men reported that they experienced a decrease in desire mentally, whereas the vast majority did not experience any change in desire. Changes in foreplay, stress with optimal sexual positioning, and reduced spontaneity of sex, were other factors reported with the changes in sexual activity. The findings in this study broaden our understanding of what middle- to later-aged men feel and experience as they venture onward following treatment. This was the first study that evaluated available prospective data on pre-treatment erectile status and sexual activity. As well, this study was the first (with participant compliance rates of 100 percent) to have included an interview format to capture the views of such a large number of men. This study concluded with recommendations and implications for future research and practice as we move in the direction of understanding what is necessary for preserving psychosexual well being and enhancing quality of life in men treated with radiation therapy for prostate cancer.

The elderly : reminiscing, coping with loss, accepting death

This study investigated loss, death and dying, reminiscing, coping and the process of adaptation from the sUbjective perspective. A number of theories and models of death and dying were reviewed in the background literature search with the focus on reminiscing as a coping phenomenon. The format of the study was audio-taped interviews with ten sUbjects and the recording of their memories and reminiscing of life stories. The sUbjects were required to complete an initial questionnaire in a demographic data collection process. Two separate interviews consisted of a primary data collecting interview and a verification interview four to eight weeks later. An independent chart review completed the data collecting process. Data analysis was by the examination of the emerging themes in the subjects' personal narratives which revealed the sUb-categories of reminiscing, loss (including death and dying), acceptance, hope, love, despair and belief. Belief was shown to be the foundation and the base for living and reminiscing. Reminiscing was found to be a coping phenomenon, within the foundation of a belief system. Both living and reminiscing revealed the existence of a central belief or value with a great deal of importance attached to it. Whether the belief was of a spiritual nature, a value of marriage, tradition, a work ethic or belief in an abstract value such as fate,it gave support and control to the individuals' living and reminiscing process. That which caused despair or allowed acceptance indicated the sUbjects' basic belief and was identified in the story narrations. The findings were significant to health care in terms of education, increased dignity for the elderly and better understanding by society. The profiles represented an average age of 86.3 years with age showing no bearing on the life experiences associated with the emerging themes. Overwhelmingly, belief was shown to be the foundation in reminiscing. A Judeo-Christian cultural value base supported the belief in 90% of the sUbjects; however, different beliefs were clearly shown indicating that belief is central to all thinking beings, in everyday life and in reminiscing. Belief was not necessarily spiritual or a practised or verbalized religion. It was shown to be a way of understanding, a fundamental and single thread tying the individual's life and stories together. The benefits were the outcomes, in that knowledge of an individual's belief can optimize care planning for any age group, and/or setting. The strength of the study was the open question format and the feedback process of data verification. The unrestricted outcomes and non-specificity were significant in a world where dying is everybody's business.

Spreading my wings : how can I improve my practice and contribute to the professional knowledge base through narrative-autobiographical self-study?

"How can I improve my practice and contribute to the professional knowledge base through narrative-autobiographical self-study?" Through the use of Whitehead's (1989) living educational theory and examination of my stories, I identify the values and critical events that have helped me come to know my own learning and shape my professional self. Building on the premise that educational knowledge/theory is created, recreated, and lived through educational inquiry; I strive to make meaning of this data archive, collected over 7 years of teaching. I chart my journey to reexamine my beliefs and practices, to find a balance between traditional and progressive practices and to align my theory and practice. I retell, and, thus, in some way relive, my own "living contradictions." A reconceptualization of the KNOW, DO, BE model (Drake & Burns, 2004) is used to develop strategies to align my practice, including a six-step model of curriculum design that combines the backwards design process of Wiggins and McTighe (1998), the KNOW, DO, BE model (Drake & Burns) and Curry and Samara's (1995) differentiation planner.

Royal Navy Ship Collection, 1784-1816

Includes 41 copies of plans of Royal Navy ships, ranging in date from 1784 to 1816. Some of the ships included are the Bonne Citoyenne, Niagara, Epervier, Comet, Contest, Ferret, Childers, Anacreon, Florida, Hind, Hermes, Psyche, Princess Charlotte, Contest, Prince Regent, Caroline, Thetis, Statira, Forte, Pelican, Crescent, Euryalus, Chesapeake, Acasta, Banterer, Leda, Endymion, Amphion, President, Tonnant, Ramillies, Boyne, and St. Lawrence. Many of these ships were used by the British during the War of 1812. The original plans are at the National Maritime Museum in Greenwich, London. Also included is a copy of a handwritten chart with the number and size of the British and United States Squadrons on Lake Ontario, March 1814 (during the War of 1812). This includes the number and caliber of long guns and carronades, as well as the weight of metal, for different ships. British ships include the Prince Regent, Princess Charlotte, Wolfe, Royal George, Melville, Moira, Sir Sidney Smith, and Beresford. American ships include the [General] Pike, Madison, Oneida, Sylph, Gen’l Tompkins[?], Conquest, Fair American, Ontario, Pert, Asp, and Lady of the Lake. Also included is a copy of a map titled “Track of the Action”, tracking the movements of the HMS Java and the USS Constitution, dated December 29, 1812, and a copy of a map of Lake Champlain and Plattsburgh Bay showing the position of a vessel(s), undated.

Report of Loss in Capacity Due to Ice at Rankine Station - April 1934 through April 1937

A report compiled by Canadian Niagara Power Company describes the loss in capacity due to ice. The chart reveals the kilowatts lost and the duration of the outage and the "min. forebay elevation during ice loss period".

Service Learning in Higher Education: A Road Map

As institutions of higher education struggle to stay relevant, competitive, accessible, and flexible, they are scrambling to attend to a shift in focus for new students. This shift involves experiential learning. The purpose of this major research paper was to examine the existing structures, to seek gaps in the experiential learning programs, and to devise a framework to move forward. The specific focus was on experiential learning at Brock University in the Faculty of Applied Health Sciences. The methodology was underscored with cognitive constructivism and appreciative theory. Data collection involved content analysis steps established by Krippendorff (2004) and Weber (1985). Data analysis involved the four dimensions of reflection designed by LaBoskey, including the purpose, context, content, and procedures. The results developed understandings on the state of formal processes and pathways within service learning. A tool kit was generated that defines service learning and offers an overview of the types of service learning typically employed. The tool kit acts as a reference guide for those interested in implementing experiential learning courses. Importantly, the results also provided 10 key points in experiential learning courses by Emily Allan. A flow chart illustrates the connections among each of the 10 points, and then they are described in full to establish a strategy for the way forward in experiential learning.

Inniskillins 10 Year Anniversary

An Inniskillin 10 Year Anniversary release that outlines the start of the winery and the partnership of Donald Ziraldo and Karl Kaiser. Also includes a new "vintage chart", a release of a 1978 sparkling wine and a description of the first Icewine produced by the winery.