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.

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.

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.

Folk Songs

Soitinnus: Lauluääni (mezzosopraano), soitinyhtye.

Lectores de Saavedra Fajardo en la Alemania ilustrada: Leipzig y la traducción alemana de 'Locuras de Europa'

Se analiza la recepción de Diego de Saavedra Fajardo en la Alemania ilustrada del siglo XVIII, donde se imprimieron y tradujeron algunas obras de este autor. A través del análisis del prólogo que precede la edición alemana de Locuras de Europa, conoceremos el universo editorial que impulsó su aparición en Leipzig y la conyuntura histórico-política que lo propició

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

Ajankohtaista

Adequacy in Finnish Translations of Anglo-American Literature

Tutkielma käsittelee nykypäivän angloamerikkalaisen kaunokirjallisuuden suomentamista. Tutkimuksessa pyritään vahvistamaan tai kumoamaan hypoteesi, jonka mukaan angloamerikkalaisen kirjallisuuden suomentamistapa on tällä hetkellä pikemmin adekvaattinen (adequate) kuin hyväksyttävä (acceptable). Adekvaattisessa käännöksessä säilytetään lähdetekstin vierautta. Tutkimusaineisto koostuu kahdessa Neil Gaimanin romaanissa esiintyvistä kulttuurisidonnaisista aineksista (culture-specific items, CSIs) ja niiden käännöksistä. Tutkimus perustuu pääasiassa Itamar Even-Zoharin polysysteemiteoriaan ja Gideon Touryn teoriaan kääntämiseen vaikuttavista normeista. Teorioiden avulla esitetään, että kirjallisuuden polysysteemi vaikuttaa yksittäisiin käännösvalintoihin, kun suomennetaan kaunokirjallisuudessa esiintyviä kulttuurisidonnaisia aineksia. Kulttuurisidonnaiset ainekset ovat kulttuuriin liittyviä ilmauksia, jotka viittaavat kielenulkoiseen todellisuuteen. Tutkimuksen osana tarkastellaan lyhyesti myös kirjallisuutta, suomentamista sekä suomentamisen historiaa Suomessa. Empiirisessä osuudessa aineiston tutkimiseen käytetään Javier Franco Aixelán kehittämää käännöstaktiikoiden luokitusta. Kulttuurisidonnaisten ainesten suomennoksista analysoidaan eri käännöstaktiikoiden määrät, jolloin saadaan selville niiden yleisyys käännöksissä. Tutkimuksen tulokset viittaavat siihen, että tutkimuskohteena olevien romaanien kulttuurisidonnaiset ainekset on suomennettu melko adekvaattisesti. Tutkimustulos on vain suuntaa-antava, mutta tukee silti hypoteesia angloamerikkalaisen kaunokirjallisuuden suomennosten adekvaattisuudesta.