Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy.

Inherited retinal dystrophies present extensive phenotypic and genetic heterogeneity, posing a challenge for patients' molecular and clinical diagnoses. In this study, we wanted to clinically characterize and investigate the molecular etiology of an atypical form of autosomal recessive retinal dystrophy in two consanguineous Spanish families. Affected members of the respective families exhibited an array of clinical features including reduced visual acuity, photophobia, defective color vision, reduced or absent ERG responses, macular atrophy and pigmentary deposits in the peripheral retina. Genetic investigation included autozygosity mapping coupled with exome sequencing in the first family, whereas autozygome-guided candidate gene screening was performed by means of Sanger DNA sequencing in the second family. Our approach revealed nucleotide changes in CDHR1; a homozygous missense variant (c.1720C > G, p.P574A) and a homozygous single base transition (c.1485 + 2T > C) affecting the canonical 5' splice site of intron 13, respectively. Both changes co-segregated with the disease and were absent among cohorts of unrelated control individuals. To date, only five mutations in CDHR1 have been identified, all resulting in premature stop codons leading to mRNA nonsense mediated decay. Our work reports two previously unidentified homozygous mutations in CDHR1 further expanding the mutational spectrum of this gene.

Families in the Shadow of Cancer

The aims of this study were 1) to clarify the factors associated with family functioning in cancer patient’s families with dependant children, 2) to examine children’ mental health when they are exposed to parental cancer, 3) to explore the subjective experience of having cancer during pregnancy, and finally, 4) to describe the implementation of a childcentred family intervention for cancer patients’ families with dependant children in an adult oncology setting. The study groups were collected between May 1st 2002 and April 30th 2004. They consisted of one European group collected from six different countries (N = 381) and two Finnish clinical groups (N = 85 and N = 2). The first Finnish clinical group of 85 cancer patient families with dependant children included a sub-sample of 54 families with children aged 11-17 years. The second Finnish clinical group consisted of two pregnant cancer patients. Additionally, a control group (N = 59) consisting of a sub-sample of 49 families with children aged 11-17 years was used. Quantitative methods (FAD, BDI, YSR, SOC, SF-8) and qualitative methods (observation, interviews, diaries, videotapes) were used exclusively and/or in combination. The results can be summarised as follows: 1) cancer “per se “ did not impair family functioning, children’s mental health, early interaction between ill mothers and their infant, 2) maternal depression or the ill parent’s depression were significantly associated with impairment in family functioning, 3) the individual’s good sense of coherence was associated with improvement in family functioning, and 4) a child-centred family intervention, which aims to give space for elaborating on cancer in the family, validates the sense of coherence and children’s feelings, and promotes open communication was welcomed. It is important to note that in the European study group, the prevalence of depression was 35 % (BDI > 16) among ill mothers, and 28% among healthy mothers, 28% among ill fathers, and 13% among healthy fathers. Early screening and effective treatment of depression in cancer patients and their partners is of paramount importance for the mental health of children and the well-being of the family. Pregnant cancer patients are in need of psychosocial support.

Use of drama techniques as a methodology to teach english in infant education by teachers in Catalonia

L’aprenentatge de la llengua anglesa com a llengua estrangera és una oportunitat que cada vegada més escoles de Catalunya presenten a l’etapa d’educació Infantil. La metodologia utilitzada per introduir aquesta llengua és variada en cada cas. Aquesta recerca es centra en l’estudi de l’ús de tècniques dramàtiques com a metodologia per ensenyar anglès a infantil. A partir d’un qüestionari contestat per 129 professors d’anglès de Catalunya s’ha analitzat la percepció que tenen sobre les tècniques dramàtiques i la seva utilització. Els resultats mostren una manca de coneixement general sobre la metodologia.

Mourning Becomes Electra by Eugene O’Neill: Aeschylus and Plato’s Cave to Create a Dark Drama

The fundamental debt of E. O’Neill’s Mourning Becomes Electra to Aeschylus, and to a lesser degree to Sophocles and Euripides, has been always recognised but, according to the author’s hypothesis, O’Neill might have taken advantage of the Platonic image of the cave in order to magnify his both Greek and American drama. It is certainly a risky hypothesis that stricto sensu cannot be proved, but it is also reader’s right to evaluate the plausibility and the possible dramatic benefit derived from such a reading. Besides indicating to what degree some of the essential themes of Platonic philosophy concerning darkness, light or the flight from the prison of the material world are not extraneous to O’Neill’s work, the author proves he was aware of the Platonic image of the cave thanks to its capital importance in the work of some of his intellectual mentors such as F. Nietzsche or Oscar Wilde. Nevertheless, the most significant aim of the author’s article is to emphasize both the dramatic benefits and the logical reflections derived, as said before, from reading little by little O’Neill’s drama bearing in mind the above mentioned Platonic parameter.

Manon Lescaut : a lyric drama in four acts

Oletettavasti sama levytys kuin CD-julkaisussa RCA Victor Gold Seal Opera Series, 60573-2-RG, jossa tosin Plinio Clabassin tilalle merkitty Enrico Campi.

No androcentric perspective in studies of one parent families. Relections and methodological implications

This paper presents a discussion on the process that led us to a progressively developing of a specific methodological approach for research on one parent families. This process has been systematized and built from the contributions of feminist epistemologies to the methodological design and participatory forms of work. From it derives a scientific and technical contribution, internationally unpublisheduntil now: Single Parenthood and family diversity Survey (EMODIF), which we propose as a not androcentric measuring tool of single parenthood, their profiles,experiences, expectations and realities. With this article we want to offer a systematization of the implications that has had our implementation of the feminist perspective in studies of one parent families.

Competence Development and Capacity Building of Sawmill Enterprises in Kenya – A Human Resources Development Approach

The Kenyan forestry and sawmilling industry have been subject to a changing environment since 1999 when the industrial forest plantations were closed down. This has lowered raw material supply and it has affected and reduced the sawmill operations and the viability of the sawmill enterprises. The capacity of the 276 registered sawmills is not sufficient to fulfill sawn timber demand in Kenya. This is because of the technological degradation and lack of a qualified labor force, which were caused because of non-existent sawmilling education and further training in Kenya. Lack of competent sawmill workers has led to low raw material recovery, under utilization of resources and loss of employment. The objective of the work was to suggest models, methods and approaches for the competence and capacity development of the Kenyan sawmilling industry, sawmills and their workers. A nationwide field survey, interviews, questionnaire and literature review was used for data collection to find out the sawmills’ competence development areas and to suggest models and methods for their capacity building. The sampling frame included 22 sawmills that represented 72,5% of all the registered sawmills in Kenya. The results confirmed that the sawmills’ technological level was backwards, productivity low, raw material recovery unacceptable and workers’ professional education low. The future challenges will be how to establish the sawmills’ capacity building and workers’ competence development. Sawmilling industry development requires various actions through new development models and approaches. Activities should be started for technological development and workers’ competence development. This requires re-starting of vocational training in sawmilling and the establishment of more effective co-operation between the sawmills and their stakeholder groups. In competence development the Enterprise Competence Management Model of Nurminen (2007) can be used, whereas the best training model and approach would be a practically oriented learning at work model in which the short courses, technical assistance and extension services would be the key functions.

The Andean Biotic Index (ABI): revised tolerance to pollution values for macroinvertebrate families and index performance evaluation.

Score-based biotic indices are widely used to evaluate the water quality of streams and rivers. Few adaptations of these indices have been done for South America because there is a lack of knowledge on mac-roinvertebrate taxonomy, distribution and tolerance to pollution in the region. Several areas in the Andes are densely populated and there is need for methods to assess the impact of increasing human pressures on aquatic ecosystems. Considering the unique ecological and geographical features of the Andes, macroinvertebrate indices used in other regions must be adapted with caution. Here we present a review of the literature on mac-roinvertebrate distribution and tolerance to pollution in Andean areas above 2 000masl. Using these data, we propose an Andean Biotic Index (ABI), which is based on the BMWP index. In general, ABI includes fewer macroinvertebrate families than in other regions of the world where the BMWP index has been applied because altitude restricts the distribution of several families. Our review shows that in the high Andes, the tolerance of several macroinvertebrate families to pollution differs from those reported in other areas. We tested the ABI index in two basins in Ecuador and Peru, and compared it to other BMWP adaptations using the reference condi-tion approach. The ABI index is extremely useful for detecting the general impairment of rivers but class quality boundaries should be defined independently for each basin because reference conditions may be different. The ABI is widely used in Ecuador and Peru, with high correlations with land-use pressures in several studies. The ABI index is an integral part of the new multimetric index designed for high Andean streams (IMEERA). Rev. Biol. Trop. 62 (Suppl. 2): 249-273. Epub 2014 April 01.

Families of periodic horseshoe orbits in the restricted three-body problem

We compute families of symmetric periodic horseshoe orbits in the restricted three-body problem. Both the planar and three-dimensional cases are considered and several families are found.We describe how these families are organized as well as the behavior along and among the families of parameters such as the Jacobi constant or the eccentricity. We also determine the stability properties of individual orbits along the families. Interestingly, we find stable horseshoe-shaped orbit up to the quite high inclination of 17◦

Source and Target Text-Orientation in Drama Translation. An Analysis of Four Translations of William Shakespeare’s Julius Caesar

Tässä pro gradu -tutkielmassa käsittelen lähde- ja kohdetekstikeskeisyyttä näytelmäkääntämisessä. Tutkimuskohteina olivat käännösten sanasto, syntaksi, näyttämötekniikka, kielikuvat, sanaleikit, runomitta ja tyyli. Tutkimuksen tarkoituksena oli selvittää, näkyykö teoreettinen painopisteen siirtyminen lähdetekstikeskeisyydestä kohdetekstikeskeisyyteen suomenkielisessä näytelmäkääntämisessä. Oletuksena oli, että siirtyminen näkyy käytetyissä käännösstrategioissa. Tutkimuksen teoriaosuudessa käsitellään ensin lähde- ja kohdetekstikeskeisiä käännösteorioita. Ensin esitellään kaksi lähdetekstikeskeistä teoriaa, jotka ovat Catfordin (1965) muodollinen vastaavuus ja Nidan (1964) dynaaminen ekvivalenssi. Kohdetekstikeskeisistä teorioista käsitellään Touryn (1980) ja Newmarkin (1981) teoreettisia näkemyksiä sekä Reiss ja Vermeerin (1986) esittelemää skopos-teoriaa. Vieraannuttamisen ja kotouttamisen periaatteet esitellään lyhyesti. Teoriaosuudessa käsitellään myös näytelmäkääntämistä, William Shakespearen kieltä ja siihen liittyviä käännösongelmia. Lisäksi esittelen lyhyesti Shakespearen kääntämistä Suomessa ja Julius Caesarin neljä kääntäjää. Tutkimuksen materiaalina oli neljä Shakespearen Julius Caesar –näytelmän suomennosta, joista Paavo Cajanderin käännös on julkaistu vuonna 1883, Eeva-Liisa Mannerin vuonna 1983, Lauri Siparin vuonna 2006 ja Jarkko Laineen vuonna 2007. Analyysissa käännöksiä verrattiin lähdetekstiin ja toisiinsa ja vertailtiin kääntäjien tekemiä käännösratkaisuja. Tulokset olivat oletuksen mukaisia. Lähdetekstikeskeisiä käännösstrategioita oli käytetty uusissa käännöksissä vähemmän kuin vanhemmissa. Kohdetekstikeskeiset strategiat erosivat huomattavasti toisistaan ja uusinta käännöstä voi sanoa adaptaatioksi. Jatkotutkimuksissa tulisi materiaali laajentaa koskemaan muitakin Shakespearen näytelmien suomennoksia. Eri aikakausien käännöksiä tulisi verrata keskenään ja toisiinsa, jotta voitaisiin luotettavasti kuvata muutosta lähde- ja kohdetekstikeskeisten käännösstrategioiden käytössä ja eri aikakausien tyypillisten strategioiden kartoittamiseksi.

Adorno e Beckett: aporias da autonomia do drama

O artigo procura situar a interpretação proposta por Theodor W. Adorno para a peça "Fim de partida", de Samuel Beckett, no contexto de sua concepção de autonomia da arte. Segundo a hipótese do trabalho, o conceito de autonomia subjaz ao diagnóstico histórico de Adorno a respeito do gênero dramático, o qual justifica sua leitura da peça como uma paródia do drama. O artigo busca mostrar os acertos dessa leitura perante a recepção inicial da peça, e também seus limites, uma vez que resulta em uma abordagem da experiência teatral focada primordialmente na consideração do texto teatral, em detrimento da encenação.

Intercultural bridges in teenagers' theatrical events : performing self and constructing cultural identity through a creative drama process

The overriding aim of this drama educational case study is to deepen the understanding of meaning making in a creative intercultural youth theatre process and to examine it in the context of the 10th European Children's TheatreEncounter. The research task is to give a theoretical description of some key features of a creative drama process as the basis for theory about meaning makingin physical theatre. The first task is to illuminate the culture-historical connections of the multilayered practice of the EDERED-association. The second taskis to analyse and interpret theatrical meaning making. The ethnographical research site is regarded as a theatrical event. The analysis of the theatrical eventis divided into four segments: cultural contexts, contextual theatricality, theatrical playing and playing culture. These segments are connected with four research questions: What are the cultural contexts of a creative drama process? How can the organisation of the Encounter, genres, aesthetic codes and perception ofcodes be seen to influence the lived experiences of the participants? What are some of the key phases and characteristics in a creative practice? What kind of cultural learning can be interpreted from the performance texts? The interpretative question concerns identity and community (re)construction. How are the categories, `community´ and `child´ constructed in the Encounter culture? In this drama educational case study the research material (transcribed interviews, coded questionnaire answers, participant drawings, videotaped process text and performance texts) are examined in a multi-method analysis in the meta-theoretical framework of Dewey's naturalistic pragmatism. A three-dimensional research interest through a combination of lived experiences, social contexts and cultural-aesthetical practices compared with drama-educational practices required the methodological project of cultural studies. Furthermore, the critical interpretation of cultural texts is divided into three levels of analyses which are called description, structural analysis and theoretical interpretation. Dialogic validity (truthfulness, self-reflexivity and polyvocality) is combined with contextual validity (sensitivity to social context and awareness of historicity) and with deconstructive validity (awareness of the social discourses). My research suggests that itis possible, by means of physical theatre, to construct symbolic worlds where questions about intercultural identity and multilingual community are examined and where provisional answers are constructed in social interaction.

Beyond the obvious : three acts in educational drama

Researching research is not a common theme in educational drama. Nor is the educational drama process from a participant perspective a typical focus of research, at least not if the participants are disabled. Yet this is the theme of this thesis, a drama in three acts. The aim of this thesis is to describe, analyse, and discuss both the ways in which research within educational drama can be carried out and represented, and the experiences of the participants of the educational drama process. The theoretical framework that steers the research process is built up of two pairs of frames, each of them, like Russian nesting dolls, containing further frames. The first frame, relating to the outcomes of conducting research in educational drama, comprises philosophical, representational, and personal theories. As the second question asks what educational drama is, the subject related frame is built up of pedagogical, drama educational, and aesthetic theories. The study in its entirety follows the structure of the researcher’s hermeneutical learning process and takes the form of a journey starting from what is familiar, stretching towards what is new and different, and finally returning back to the beginning with a new view on what was there at the start. The thesis consists of two separate but related studies. The first, a familiar study conducted earlier, Alpha in Act I, was carried out among upper secondary school pupils. In the second, the new and therefore unfamiliar study, Omega in Act III, the participants are adult individuals who are physically and communicatively disabled. In between these two Acts an element of “Verfremdung” where the Alpha study is systematically scrutinized as the purpose is to teach and to manage the reader to think. Meta-discussions on the philosophical issues of the study are conducted throughout the text, parallel to the empirical parts. The outcomes of the first research question show that philosophical, methodical, and representational consistency is crucial for research. While this may sound like stating the obvious, this has nevertheless not always been considered fact, especially not within qualitative research. The outcomes further stress that representational issues are also to be recognized when presenting non-rational aspects of educational drama. By wording the world, through the use of visualising language, the surplus of meanings of educational drama can be, as they are within this study, made visible, sensible, and almost tangible, not only cognitively understandable. The outcomes of the second question point to the different foci of the studies, with Alpha focusing on the rationally retold experiences and Omega focusing on nonrational experiences. The outcomes expose educational drama as a learning process comprising doing, reflecting, and being. The doing aspect communicates the concrete efforts in creating a piece of theatre, while the being aspect relates experiences of being as situated, embodied and sensuous, reciprocal, empowering, aesthetic and artistic, and existential. Reflection is the twine that runs throughout the process and connects both doing and being. In summary, the outcomes could be formulated as “learning from learning how to make theatre”.

Mission and development : Finnish Pentecostal, Lutheran and Orthodox mission agencies in development work in Kenya 1948 - 1989

År 1974 började den finska regeringen kanalisera pengar för utvecklingssamarbete genom medborgarorganisationer. Tre år senare och fram till år 1988 beviljade regeringen ett speciellt anslag specifikt för missionsorganisationers utvecklingsprojekt. De finska pingstvännerna, lutheranerna och de ortodoxa utvidgade samtliga sitt sociala arbete i Kenya med statens stöd. Deras projekt var likadana: alla byggde läroanstalter, utvecklade Kenyas hälsoservice och sysselsatte kenyaner. Olikheterna mellan pingstvännerna, lutheranerna och de ortodoxa blev tydliga genom diverse problem som de mötte inom ramen för utvecklingssamarbetet. Den finska pingströrelsen bestod av självständiga församlingar, och pingstvännerna måste omvandla sin takorganisation, Suomen Vapaa Ulkolähetys, så att utvecklingsprojekt blev en viktig gren av dess verksamhet. Lutheranerna som till en början hade sänt missionärer för att arbeta i den kenyanska kyrkans tjänst började i medlet av 1970-talet i ökande grad bygga sociala anstalter med statens pengar. Ett problem var att statens stöd varade endast för en begränsad tid och att den lutherska kyrkan i Kenya inte hade råd att överta dessa anstalter och täcka deras löpande kostnader i framtiden. De finska ortodoxa, för sin del, igångsatte sociala projekt i samarbete med de ortodoxa i Kenya. Under några år fick de dock lära sig att de inte kunde driva självständiga utvecklingsprojekt i Patriarkens i Alexandria maktsfär. Den finska ortodoxa missionen blev tvungen att underkasta sig ärkebiskopen i Nairobi. År för år beviljade den finska regeringen större anslag för missionsorganisationernas utvecklingsprojekt och statens ansvar för kostnaderna ökade från 50% till 60% år 1984. Intressant nog mottog både lutheranerna och de ortodoxa mindre statliga pengar för utvecklingssamarbete år 1989 än 1984. Däremot växte pingstvännernas utvecklingssamarbete i Kenya under hela 1980-talet. Eftersom pingstvännerna inte ville använda sina medlemmarnas pengar (som var avsedda för missionsverksamhet) till sociala projekt täckte de sin andel i utvecklingskostnaderna med pengar från utanförstående. Pingstvännerna utvecklade en omfatttande komersiell och även industriell verksamhet för att samla in pengar för sina utvecklingsprojekt.

Lidandet som kamp och drama

Denna studie syftar till att via utformandet av en teoretisk modell nå ökad förståelse för hur människan erfar lidandet. Studien, som har en hermeneutisk ansats, fokuserar lidandet som drama och kamp, vilka beskrivs som lidandets form och substans. Data insamlades genom samtal med informanter från två kontext. Den ena informantgruppen som utgjordes av nio personer med drogrelaterade problem valdes med utgångspunkt i ett antagande om att missbruket härrör från ett livslidande. De övriga informanterna (nio stycken) söktes inom ett till det yttre kontrasterande kontext, de hjärtopererade patienternas. De texter dessa samtal genererade tolkades sedan med utgångspunkt i en hermeneutisk ansats, som hämtat metodologisk inspiration av Ricoeur och Helenius. Tolkningen ägde rum i flera steg och det meningsbärande söktes genom naiv tolkning, analys av textens struktur samt genom ett sökande efter alternativa tolkningar. Tolkningsprocessen resulterade en uppsättning teser vilka relaterades till undersökningens teoretiska perspektiv samt till en begreppsanalys av ’kamp’. Den teoretiska modellen tar fasta på lidandets kamp som en kamp mellan värdighet och skam, lust och olust. Denna kamp kan gestaltas i lidandets drama där människan på olika sätt söker lindring i lidandet. Detta kan ske genom att man försöker besegra lidandet, avtäcka det eller försonas med det. Ytterligare ett sätt att söka lindring är att ge upp lidandets kamp och resignera. I den teoretiska modellen gestaltas även hur människan kan förhålla sig till kampen på olika sätt beroende på vilket perspektiv hon har inför framtiden. Då människan uppfattar att framtiden präglas av ett hot om avskurenhet och död förhåller hon sig till livet på ett sådant sätt att lidandet dominerar. Om uppfattningen om framtiden präglas av liv och gemenskap kan hon förhålla sig till kampen som hälsa. När lidandet blir outhärdligt förlorar människan sin förankring i tiden. I och med att människan isoleras i nuet kan lidandet bemästras och begränsas till en konkret situation. För att en rörelse i hälsoprocesserna skall äga rum måste människan emellertid relatera till tiden. Relationen till en annan människa och skapandet av en lidandeberättelse innebär en möjlighet till förankring i tiden och därmed också till helande.