Further insights in trichothiodistrophy: a clinical, microscopic, and ultrastructural study of 20 cases and literature review

Background: Trichothiodistrophy (TTD) is a rare autosomal recessive condition that is characterized by a specific congenital hair shaft dysplasia caused by deficiency of sulfur associated with a wide spectrum of multisystem abnormalities. In this article, we study clinical, microscopic, and ultrastructural findings of 20 patients with TTD with the aim to add further insights regarding to this rare condition. Additionally, analyses of our results are compared with those extracted from the literature in order to enhance its comprehensibility. Materials and Methods: Twenty cases of TTD were included: 7 from Mexico and 14 from Spain. Clinical, microscopic, scanning electron microscopy (SEM) studies and X-ray microanalysis (XrMa) were carried out in all of them. Genetic studies were performed in all seven Mexican cases. Patients with xeroderma pigmentosum and xeroderma pigmentosum/TTD-complex were excluded. Results: Cuticular changes and longitudinal crests of the hair shaft were demonstrated. These crests were irregular, disorganized, following the hair longest axis. Hair shaft sulfur deficiency was disposed discontinuously and intermittently rather than uniformly. This severe decrease of sulfur contents was located close to the trichoschisis areas. Only five patients did not show related disturbances. Micro-dolichocephaly was observed in five cases and represented the most frequent facial dysmorphism found. It is also remarkable that all patients with urologic malformations also combined diverse neurologic disorders. Moreover, three Mexican sisters demonstrated the coexistence of scarce pubic vellus hair, developmental delay, onychodystrophy, and maxillar/mandibullar hypoplasia. Conclusions: TTD phenotype has greatly varied from very subtle forms to severe alterations such as neurologic abnormalities, blindness, lamellar ichthyosis and gonadal malformations. Herein, a multisystem study should be performed mandatorily in patients diagnosed with TTD.

Osakeyhtiön tilintarkastajan vahingonkorvausvastuun rajoittaminen

Tutkielman tarkoituksena on selvittää tilintarkastajan vahingonkorvausvastuun syntyedellytykset ja mahdolliset rajoittamistarpeet. Tutkimusmenetelmäksi on valittu lainoppi eli oikeusdogmatiikka. Tutkielmassa käytetty lähdemateriaali kattaa lainsäädännön lisäksi lainvalmisteluaineistoa, oikeuskäytäntöä, yhtiö- ja vahingonkorvausoikeudellista oikeuskirjallisuutta aina 1950-luvulta nykypäivään saakka sekä ajankohtaisia asiantuntija-artikkeleita. Asia on tällä hetkellä hyvin ajankohtainen, niin Suomessa kuin kansainvälisestikin. Suomessa on vuonna 2006 teetetty tutkimus koskien tilintarkastajan vahingonkorvausvastuun kehittämistarpeita. Samoin Euroopan Unionin tasolla, on asiaan puututtu ja Euroopan Yhteisöjen Komissio on teettänyt tutkimuksen tilintarkastajan vastuusta. Tutkimuksen pohjalta on järjestetty julkinen kuulemiskierros ja annettu jäsenvaltioille suositus lakisääteisten tilintarkastajien ja tilintarkastusyhteisöjen siviilioikeudellisen vastuun rajoittamisesta. Tutkielmassa on tarkasteltu useita eri menetelmiä vastuun rajoittamiseksi. Johtopäätöksenä on todettavissa, että tilintarkastajan vastuuta sellaisenaan ei tule rajoittaa, sen johtaessa tilanteeseen, joka ei yhtä tehokkaasti kannusta huolelliseen tarkastukseen kuin rajoittamaton vastuu. Tilintarkastajan ja yrityksen johdon välisissä yhteisvastuutilanteissa on sen sijaan nähty paljon problematiikkaa ja epäkohtia, ja niihin tulisi rajoituksin taikka lainsäädännöllä puuttua.

La terminologia jurídica en català : Aproximació descriptiva dels seus patrons morfosintàctics

En aquest treball s'estudien les característiques de la terminologia jurídica en català, especialment, els patrons morfosintàctics que la defineixen. A partir d'aquests patrons s'experimenta l'extracció automatitzada amb el programa TBXTools sobre un corpus paral·lel català-castellà format pels DOGC de l'any 2013.

Limnological research in the Iberian Peninsula: a ten-year survey of published literature.

Research on limnology in southern Europe had achieved a notable presence in the international arena before the onset of the current dramatic cuts in public investment in science. We assessed the limnological research published in peer-reviewed journals by Spanish and Portuguese (i.e., Iberian) researchers during the decade prior to the economic recession (2000 to 2009). The Thompson Reuters Web of Knowledge database was used to retrieve all publications on limnology authored by researchers affiliated with Spanish or Portuguese institutions independently of the geographical setting of the study. The publishing pattern was characterised in terms of authors, journals, and citation statistics. In addition, a thematic characterisation of the research was performed by a manual assignation of several categorical descriptors combined with a blind word count analysis. Iberian researchers produced an annual mean of 278 papers on limnology. Papers were published in journals that had impact factors ranging from 0.1 to 31.4, with a mean of 2.0. Based on citations, the impact of the Iberian limnological research was not due to a few highly cited papers but rather to a wide number of publications; each paper received a mean of 8 citations. The Iberian limnological research involved up to 5460 researchers, with a mean of 4.3 authors per paper. The research largely focused on fluvial systems, with 47 % of total publications (2778) devoted to these ecosystems. There was a dominant focus on local, within-system aspects of study sites and the research was mostly restricted to the Iberian Peninsula; larger spatial scales of analysis (i.e., landscape, regional, or global) tended to be overlooked. Iberian research addressed fundamental (75 %) rather than applied (17 %) or methodological (5 %) questions and was vastly dominated by observational approaches (75 %). Interestingly, Iberian limnological research increased its scientific productivity during the analysed decade at a higher rate than its international counterpart (increase of 119 %). Overall, Iberian research on limnology appeared to be in good health during the analysed decade. Certain areas have been more studied than others, which opens opportunities to develop new research.

Does visual impairment in a child or an adolescent affect their parents' quality of life? : A literature review

The purpose of this research was to determine whether the existing research shows that having a child with a visual impairment affects their parents' quality of life and, if it is thecase, in what way it does.

Taxation of unhealthy consumption of food and drinks: An updated literature review

By means of a literature review this paper aims at shedding more light on the potentialities of unhealthy food/drink taxation in changing eating patterns and life styles and hence combating the obesity epidemic. One remarkable point that emerges when assessing the set of selected papers is the existence of a wide diversity of objectives, methodologies, settings and datasets, policies implemented and results achieved by all these studies, which undoubtedly adds complexity to any attempt to draw a general conclusion on fast food taxation. Most of the examined studies predict a rather modest fiscal impact on unhealthy food and drinks consumption and/or nutrition intake and consequently a poor result on weight loss and obesity, by the interplay of several factors among them the effects of cross-price elasticities.

Taxation of unhealthy consumption of food and drinks: An updated literature review

By means of a literature review this paper aims at shedding more light on the potentialities of unhealthy food/drink taxation in changing eating patterns and life styles and hence combating the obesity epidemic. One remarkable point that emerges when assessing the set of selected papers is the existence of a wide diversity of objectives, methodologies, settings and datasets, policies implemented and results achieved by all these studies, which undoubtedly adds complexity to any attempt to draw a general conclusion on fast food taxation. Most of the examined studies predict a rather modest fiscal impact on unhealthy food and drinks consumption and/or nutrition intake and consequently a poor result on weight loss and obesity, by the interplay of several factors among them the effects of cross-price elasticities.

Eliminating Software Failures - A Literature Survey

Software faults are expensive and cause serious damage, particularly if discovered late or not at all. Some software faults tend to be hidden. One goal of the thesis is to figure out the status quo in the field of software fault elimination since there are no recent surveys of the whole area. Basis for a structural framework is proposed for this unstructured field, paying attention to compatibility and how to find studies. Bug elimination means are surveyed, including bug knowhow, defect prevention and prediction, analysis, testing, and fault tolerance. The most common research issues for each area are identified and discussed, along with issues that do not get enough attention. Recommendations are presented for software developers, researchers, and teachers. Only the main lines of research are figured out. The main emphasis is on technical aspects. The survey was done by performing searches in IEEE, ACM, Elsevier, and Inspect databases. In addition, a systematic search was done for a few well-known related journals from recent time intervals. Some other journals, some conference proceedings and a few books, reports, and Internet articles have been investigated, too. The following problems were found and solutions for them discussed. Quality assurance is testing only is a common misunderstanding, and many checks are done and some methods applied only in the late testing phase. Many types of static review are almost forgotten even though they reveal faults that are hard to be detected by other means. Other forgotten areas are knowledge of bugs, knowing continuously repeated bugs, and lightweight means to increase reliability. Compatibility between studies is not always good, which also makes documents harder to understand. Some means, methods, and problems are considered method- or domain-specific when they are not. The field lacks cross-field research.

The methodological criteria of counterpropositions within the Roman social legal framework

Partiendo de la difundida distinción, entre unos ordenamientos jurídicos abiertos, como el derecho inglés y el anglo americano, que se vinculan en el pasado al Derecho Romano, y otros cerrados o codificados, como los derechos del continente europeo, y tras detenernos en el origen terminológico de ambos sistemas y en su rígida contraposición, se procura destacar en este trabajo que Roma y su Derecho tampoco abrazan en toda su pureza, un sistema abierto.

Built environment and elderly population health: a comprehensive literature review

Global population aging over recent years has been linked to poorer health outcomes and higher healthcare expenditure. Policies focusing on healthy aging are currently being developed but a complete understanding of health determinants is needed to guide these efforts. The built environment and other external factors have been added to the International Classification of Functioning as important determinants of health and disability. Although the relationship between the built environment and health has been widely examined in working age adults, research focusing on elderly people is relatively recent. In this review, we provide a comprehensive synthesis of the evidence on the built environment and health in the elderly.

Security, Privacy and Anonymity in Legal Distribution of Copyrighted Multimedia Content over Peer-to-Peer Networks: A Brief Overview

Peer-reviewed

Sairaanhoitajaopiskelijoiden ohjattujen käytännön harjoittelujen aikana ilmenneet eettiset ongelmat

Ethical problems occurring during the practical training period of Finnish nursing students The present study focused on nursing students adopting the professional code of conduct during their supervised practical training. The study was carried out in two phases. During the first phase, the objective was to survey ethical problems occurring in practical training as well as how these problems are detected and resolved by nursing students and their supervisors at different stages of their studies. In the second phase, the capability of the nursing students about to graduate to detect and resolve ethical problems was described and analyzed. The students’ capacity for self-instruction, independent search for information as well as factors related to teaching of ethics were determined within this phase. Further, an extensive literature review was carried out to complement the study. Thus, the main objective of the thesis was to make suggestions for the development of the teaching of ethics and supervision in nursing studies and in practice. In the first part of the empirical phase (2002–2005), the views of the nursing students (n =18) were clarified with themed open essay questions. Furthermore, the views of the supervising nurses (n = 115) were established by utilizing a series of themed questions and group interviews. During the second phase (2006–2007), the data for the analyses were collected from nursing students in their graduating stage (n = 319) by a national Internet-based questionnaire. The results of the first phase were examined with contentanalysis and those of the second phase both statistically and by using content analysis. Ethical problems occurring during supervised practical training were typically connected to a patient or a client, a member of the nursing staff or to a student, while solutions were connected to preparation and the action to solve the problem in question. Ethical dilemmas were classified as legal, ethical comportment and uncertainty problems as well as personal and institutional ones. The solutions for these problems were further grouped as based on facts, instructor/staff/member/specialist or patient/client/relative. The results showed that although the nursing students about to graduate had detected many ethical problems both independently as well as together with the nursing staff during every practical training period, they were able to resolve only few of them. Ethical problems were most frequently encountered during training in psychiatric nursing. On the grounds of their own impressions, the nursing students stated that their ability to detect and solve ethical problems improved during their training period. The primary factors related to this enhancement of their skills were teaching and the students’ readiness for selfinstruction. Gender, orientation of the studies and age were observed to be the most important among the underlying factors influencing the capability to detect and solve ethical problems as well as to engage in self-instruction. Based on the results obtained, suggestions for development as well as topics for further studies are presented through teaching of professional ethics and supervision during practical training.

Foodstuffs and medicines as legal categories in the EU and China. Functional foods as a borderline case

The thesis discusses the regulation of foodstuffs and medicines, and particularly the regulation of functional foods. Legal systems investigated are the EU and China. Both are members of the WTO and Codex Alimentarius, which binds European and Chinese rules together. The study uses three Chinese berries as case examples of how product development faces regulation in practice. The berries have traditional uses as herbal medicines. Europe and China have similar nutrition problems to be resolved, such as obesity, cardiovascular disease, and diabetes. The three berries might be suitable raw materials for functional foods. Consumer products with health-enhancing functions, such as lowering blood pressure, might legally be classifi ed either as foodstuffs or medicines. The classifi cation will depend on functions and presentation of the product. In our opinion, food and medicine regulation should come closer together so the classifi cation issue would no longer be an issue. Safety of both foodstuffs and medicines is strictly regulated. With medicines, safety is a more relative concept, where benefi ts of the product are compared to side-effects in thorough scientifi c tests and trials. Foods, on the other hand, are not allowed to have side-effects. Hygiene rules and rules on the use of chemicals apply. In China, food safety is currently at focus as China has had several severe food scandals. Newly developed foods are called novel foods, and are specifi cally regulated. The current European novel food regulation from 1997 treats traditional third country products as novel. The Chinese regulation of 2007 also defi nes novel foods as something unfamiliar to a Chinese consumer. The concepts of novel food thus serve a protectionist purpose. As regards marketing, foods are allowed to bear health claims, whereas medicines bear medicinal claims. The separation is legally strict: foods are not to be presented as having medicinal functions. European nutrition and health claim regulation exists since 2006. China also has its regulation on health foods, listing the permitted claims and how to substantiate them. Health claims are allowed only on health foods. The European rules on medicines include separate categories for herbal medicines, traditional herbal medicines, and homeopathic medicines, where there are differing requirements for scientifi c substantiation. The scientifi c and political grounds for the separate categories provoke criticism. At surface, the Chinese legal system seems similar to the European one. To facilitate trade, China has enacted modern laws. Laws are needed as the country moves from planned economy to market economy: ‘rule of law’ needs to replace ‘rule of man’. Instead of being citizens, Chinese people long were subordinates to the Emperor. Confucius himself advised to avoid confl ict. Still, Chinese people do not and cannot always trust the legal system, as laws are enforced in an inconsistent manner, and courts are weak. In China, there have been problems with confl icting national and local laws. In Europe, the competence of the EU vs. the competence of the Member States is still not resolved, even though the European Commission often states that free trade requires harmonisation. Food and medicine regulation is created by international organisations, food and medicine control agencies, standards agencies, companies and their organisations. Regulation can be divided in ‘hard law’ and ‘soft law’. One might claim that hard law is in crisis, as soft law is gaining importance. If law is out of fashion, regulation certainly isn’t. In the future, ‘law’ might mean a process where rules and incentives are created by states, NGOs, companies, consumers, and other stakeholders. ‘Law’ might thus refer to a constant negotiation between public and private actors. Legal principles such as transparency, equal treatment, and the right to be heard would still be important.

Muuttuvat tilat lasten- ja nuortenkirjallisuuden tutkijoiden pohdittavana : : metamorphic spaces in children's literature and culture 17.-19.1.2008 Jyväskylä

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