Autosomal Recessive Posterior Microphthalmos/Nanophthalmos is Caused by Loss-of-function Mutations in LOC646960, a Novel Gene Encoding a Trypsin-like Serine Protease

Purpose: Posterior microphthalmos (MCOP)/nanophthalmos (NNO) is a developmental anomaly characterized by extreme hyperopia due to short axial length. The population of the Faroe Islands shows a high prevalence of an autosomal recessive form (arMCOP). The gene mutated in arMCOP is not yet known.Methods: Genetic mapping by linkage analysis using microsatellite and single nucleotide polymorphisms, mutation analysis by PCR and sequencing, molecular modellingResults: Having refined the position of the disease locus (MCOP6) in an interval of 250 kb in chromosome 2q37.1 in Faroese families, we detected 3 mutations in a novel gene, LOC646960: Patients of 10 different Faroese families were either homozygous (n=22) for c.926G>C (p.Trp309Ser) or compound heterozygous (n=6) for c.926G>C and c.526C>G (p.Arg176Gly), whereas a homozygous 1 bp duplication (c.1066dupC) was identified in patients with arNNO from a Tunisian family. In two unrelated patients with MCOP, no LOC646960 mutation was found. LOC646960 is expressed in the human adult retina and RPE. The expression of the mouse homologue in the eye can be first detected at E17 and is highest in adults. The predicted protein is a 603 amino acid long secreted trypsin-like serine peptidase. c.1066dupC should result in a functional null allele. Molecular modelling of the p.Trp309Ser mutant suggests that both affinity and reactivity of the enzyme towards in vivo substrates are substantially reduced.Conclusions: Postnatal growth of the eye is important for proper development of the refractive components (emmetropization), and is mainly due to elongation of the posterior segment from 10-11 mm at birth to 15-16 mm at the age of 13 years. Optical defocus leads to changes in axial length by moving the retina towards the image plane. arMCOP may theoretically be explained, in line with the expression pattern of LOC646960, by a postnatal growth retardation of the posterior segment.

Computational Approach to the Study of Thermal Spin Crossover Phenomena

The key parameters associated to the thermally induced spin crossover process have been calculated for a series of Fe(II) complexes with mono-, bi-, and tridentate ligands. Combination of density functional theory calculations for the geometries and for normal vibrational modes, and highly correlated wave function methods for the energies, allows us to accurately compute the entropy variation associated to the spin transition and the zero-point corrected energy difference between the low- and high-spin states. From these values, the transition temperature, T 1/2, is estimated for different compounds.

Building complexity in O2-binding copper complexes : site-selective metalation and intermolecular O2-binding at dicopper and heterometallic complexes derived from an unsymmetric ligand

A novel unsymmetric dinucleating ligand (LN3N4) combining a tridentate and a tetradentate binding sites linked through a m-xylyl spacer was synthesized as ligand scaffold for preparing homo- and dimetallic complexes, where the two metal ions are bound in two different coordination environments. Site-selective binding of different metal ions is demonstrated. LN3N4 is able to discriminate between CuI and a complementary metal (M′ = CuI, ZnII, FeII, CuII, or GaIII) so that pure heterodimetallic complexes with a general formula [CuIM′(LN3N4)]n+ are synthesized. Reaction of the dicopper(I) complex [CuI 2(LN3N4)]2+ with O2 leads to the formation of two different copper-dioxygen (Cu2O2) intermolecular species (O and TP) between two copper atoms located in the same site from different complex molecules. Taking advantage of this feature, reaction of the heterodimetallic complexes [CuM′(LN3N4)]n+ with O2 at low temperature is used as a tool to determine the final position of the CuI center in the system because only one of the two Cu2O2 species is formed

SaaS-ohjelmiston asiakastuki

Tämän tutkimuksen tavoitteena oli luoda palvelumallit, valita sopivat työkalut ja prosessit erään SaaS-ohjelmiston asiakastuelle. Esitettävät ratkaisut tuli valita niin, että ne mahdollistavat laadukkaan ja henkilöriippumattomasti skaalautuvan asiakastuen rakentamisen. Työn teoreettinen viitekehys pohjautuu tiedon ja tiedonluonnin näkökulmaan. Työssä sovellettiin Ikujiro Nonakan teoriaa organisaatioiden tiedonluontiprosessista, koska case-yrityksen tuottamat asiakastukipalvelut pohjautuvat voimakkaasti tietoon ja tietämykseen. Tietointensiivisyyden näkökulma on otettu huomioon myös palvelumallien, työkalujen ja prosessien valinnassa. Työn tuloksena löydettiin mallit, menetelmät ja työkalut vastaamaan työn alkuperäisiä vaatimuksia. Tutkimuksen tuloksia on jo pystytty testaamaan käytännössä. Tutkimuksen kirjallisen katsauksen ja empiirisenosan välille pystyttiin osoittamaan vahva yhteys toisiinsa. Työn tuloksia voidaan soveltaa asiakastuen kehittämisessä useilla eri toimialoilla, niin isoissa kuin pienissäkin organisaatioissa aina yksityisen sektorin toimijoista, julkisen talouden yrityksiin tai yhteisöihin.

Magnetic, thermal and spectral characterization of 2,4-dimethoxybenzoates of Mn(II), Co(II) and Cu(II)

2,4 - Dimethoxybenzoates of Mn(II), Co(II) and Cu(II) have been synthesized as hydrated or anyhydrous polycrystalline solids and characterized by elemental analysis, IR spectroscopy, magnetic studies and X-ray diffraction measurements. They possess the following colours: Mn(II) - white, Co(II) - pink and Cu(II) - blue. The carboxylate groups bind as monodentate, or a symmetrical bidentate bridging ligands and tridentate. The thermal stabilities were determined in air at 293-1173K. When heated the hydrated complexes dehydrate to from anhydous salts which are decomposed to the oxides of respective metals. The magnetic susceptibilites of the 2,4-dimethoxybenzoates were measured over the range 76-303 K and their magnetic moments were calculated. The results reveal the complexes of Mn(II), Co(II) to be high-spin complexes and that of Cu(II) to form dimer.

Complexes of 3,4-dimethoxybenzoic acid anion with Cu(II), Co(II), La(III), and Nd(III)

Physico-chemical properties of 3,4-dimethoxybenzoates of Co(II), Cu(II), La(III) and Nd(III) were studied. The complexes were obtained as hydrated or anhydrous polycrystalline solids with a metal ion-ligand mole ratio of 1 : 2 for divalent ions and of 1 : 3 in the case of trivalent cations. Their colours depend on the kind of central ion: pink for Co(II) complex, blue for Cu(II), white for La(III) and violet for Nd(III) complexes. The carboxylate groups in these compounds are monodentate, bidentate bridging or chelating and tridentate ligands. Their thermal decomposition was studied in the range of 293-1173 K. Hydrated complexes lose crystallization water molecules in one step and form anhydrous compounds, that next decompose to the oxides of respective metals. 3,4 - Dimethoxybenzoates of Co(II) is directly decomposed to the appropriate oxide and that of Nd(III) is also ultimately decomposed to its oxide but with the intemediate formation of Nd2O2CO3.. The magnetic moment values of 3,4-dimethoxybenzoates determined in the range of 76-303 K change from 4.22 µB to 4.61 µB for Co(II) complex , from 0.49 µB to 1.17 µB for Cu(II) complex , and from 2.69 µB to 3.15 µB for Nd(III) complex.

Comparison of some properties of 2,3 - and 3,4 - dimethoxybenzoates of Cu(II), Co(II) and Nd(III)

The physicochemical properties of 2,4-, and 3,4- dimethoxybenzoates of Cu(II), Co(II) and Nd(III) were studied and compared to observe the -OCH3 substituent positions in benzene ring on the character of complexes. The analysed compounds are crystalline hydrated or anhydrous salts with colours depending on the kind of central ions: blue for Cu(II), pink for Co(II) and violet for Nd(III) complexes. The carboxylate groups bind as monodentate, bidentate bridging or chelating and even tridentate ligands. Their thermal stabilities were studied in air at 293-1173K. When heated the hydrated complexes release the water molecules and form anhydrous compounds which are then decomposed to the oxides of respective metals. Their magnetic moment values were determined in the range of 76-303K. The results reveal the compounds of Nd(III) and Co(II) to be the high-spin and that of Cu(II) forms dimer. The various positions of -OCH3 groups in benzene ring influence some of physicochemical properties of analysed compounds.

Damage quantification and reaction of bean genotypes (Phaseolus vulgaris L.) to Meloidogyne incognita race 3 and M. javanica

The damage and the resistance levels of cultivars and accessions of common beans rescued in the South and mountain regions of Espírito Santo State, Brazil, to M. incognita race 3 and M. javanica parasitism were evaluated under a greenhouse. Four rescued bean genotypes ("FORT-10", "FORT-13", "FORT-16" and "FORT-19") and 2 commercial cultivars: "Pérola", and "Aporé", were tested. The cultivar "Rico-23" was included as standard of susceptibility to nematodes and non-inoculated plants constituted the control. Thus, the experiment was carried out in a completely randomized design in 3 (treatments considering nematodes) x 7 (genotypes and bean cultivars) factorial arrangement, with 7 replicates. Data were measured at 50 days after plant inoculation. For damage quantification, the following variables were evaluated: plant height (PHE), number of nodes (NNO), number of trifoliate leaves (NRT), fresh matter weight (FWE) and dry matter weight (DWE) of shoots, root weight (RWE), number of root nodules (NRO) and final population (FPO) of nematodes per root system. There were no significant differences between the effects caused by M. incognita and M. javanica, but both species showed inferior values of PHE, NNO, NRT, RWE, FWE and DWE compared to controls. Concerning the levels of resistance of bean plants to M. incognita, the genotypes "FORT-10", "FORT-13", "Aporé" and "FORT-16" behaved as moderately resistant, the cultivars "Rico 23" and "Pérola" low resistant, and the genotype "FORT-19" as highly susceptible. When parasitized by M. javanica, the beans "FORT-19", "Rico-23", "FORT-16" and "FORT-13" were low resistant, "Pérola" and "Aporé" susceptible and "FORT-10" highly susceptible.

Pelillistäminen menetelmänä julkisen liikenteen käytön lisäämisessä

Joukkoliikenteen suosio hiipuu vähitellen, käyttö aste laskee. Tätä ongelmaa lähdimme ratkaisemaan sovelluksen ja pelillistämis menetelmän avulla. Menetelmää hyödyntäen tavoitteena oli luoda sovellus joka koukuttaa käyttäjän sovelluksen käyttöön ja sitä kautta joukkoliikenteen käyttöön. Pyrimme pysäyttämään joukkoliikenteen käyttöasteen laskun tai jopa kääntämään sen kasvuun. Varsinaista tulosta ei tällä työllä saatu, sillä aika ei vain riittänyt sovelluksen testaamiseen käytännössä. Pelillistämis menetelmiä kun tutkii ja vertaa sovellustamme niihin, niin sovelluksellamme on hyvä mahdollisuudet toimia joukkoliikenteen käytön lisäämisen työkaluna.

Tietoa lapsille ja lapsista

Kirjallisuusarvostelu

Robotisoidut NDT- menetelmät hitsauksessa

Työssä keskitytään teollisuusrobotilla suoritettavien kaarihitsausprosessien ja vastuspistehitsaamisen robotisoituun NDT- tarkastamiseen. Kaarihitsausprosessi on yleisin ja tärkein menetelmä hitsauksessa ja sen robotisoituja sovelluksia on teollisuuden käytössä paljon. Vastuspistehitsaus on puolestaan yleinen esimerkiksi autoteollisuudessa, jossa robotisoidut tarkastusmenetelmät on otettu teolliseen käyttöön. Työssä keskitytään robottihitsauksen virhetilanteisiin, joissa olisi teoriassa mahdollista yhdistää robotisoitu hitsaus ja NDT- tarkastus samaan robottijärjestelmään. Sovelluksia on kuitenkin rajallisesti, joten työssä sivutaan myös mekanisoitua hitsausta. Työn alussa annetaan yleistietoa robotisoidusta hitsauksesta, keskittyen robotisoidun hitsauksen yleisimpiin virhetilanteisiin, joiden perusteella on valittu esiteltävät NDT- menetelmät. Käytännön NDT- sovelluksiin on pyritty kokoamaan tällä hetkellä käytössä olevia teollisuusrobottia hyödyntäviä tarkastussovelluksia, joilla voidaan tarkastaa robottihitsauksen yleisimpiä virheitä. Käytännön sovelluksia on kuitenkin rajallinen määrä, sillä kyseessä on verrattain uusi tekniikka ja haastava ammattitaitoa vaativa tarkastustehtävä.

E-commerce value chain in Russian markets – The role of market specific factors

International e-commerce is still rather new concept and therefore lacks comprehensive research. Different nature of markets and companies has challenged the traditional theories as well as redefined traditional operations. Prior research has mainly concentrated on studying the specific topics as barriers and the choice of international strategy. For this reason, there is a lack of research that comprehensively analyzes the operations of international e-commerce companies. The aim of this study was to increase knowledge on operations of Finnish e-commerce companies in Russia. In order to receive comprehensive knowledge of the operations, research analyzed the internationalization process, the effects of market specific factors to e-commerce and the implementation of various value chain activities of e-commerce. Research focused on examining how companies have seen the peculiarities of Russian markets and how to respond to them. The empiric part of the study was conducted as a qualitative research by interviewing five company representatives and three specialists of international e-commerce and Russian business.The results of this research revealed that having e-commerce in Russia is challenging and requires long term, strategy-based work. E-commerce is assumed to be inherently global business model, but in the case of Russia, numerous e-commerce activities require localization. The most crucial activity to localize is a content and language of content. Even though e-commerce market in Russia has a lot of peculiarities, operating via marketspace decreases the level of bureaucracy and market risk. Despite the challenges, developing e- commerce market in Russia offers a huge potential for companies, whose international strategy needs Russian operation to achieve company goals.

Data Governance and Automated Marketing – A Case Study of Expected Benefits of Organizing Data Governance in an ICT Company

This research is looking to find out what benefits employees expect the organization of data governance gains for an organization and how it benefits implementing automated marketing capabilities. Quality and usability of the data are crucial for organizations to meet various business needs. Organizations have more data and technology available what can be utilized for example in automated marketing. Data governance addresses the organization of decision rights and accountabilities for the management of an organization’s data assets. With automated marketing it is meant sending a right message, to a right person, at a right time, automatically. The research is a single case study conducted in Finnish ICT-company. The case company was starting to organize data governance and implementing automated marketing capabilities at the time of the research. Empirical material is interviews of the employees of the case company. Content analysis is used to interpret the interviews in order to find the answers to the research questions. Theoretical framework of the research is derived from the morphology of data governance. Findings of the research indicate that the employees expect the organization of data governance among others to improve customer experience, to improve sales, to provide abilities to identify individual customer’s life-situation, ensure that the handling of the data is according to the regulations and improve operational efficiency. The organization of data governance is expected to solve problems in customer data quality that are currently hindering implementation of automated marketing capabilities.

Euroopan unionin ulkoisten merirajojen ekstraterritoriaalinen valvonta ihmisoikeus- ja pakolaissääntelyn valossa

Kun henkilö saapuu valtion ulkorajalle tai alueelle, hänet on pyynnöstä päästettävä turvapaikkamenettelyyn, eikä häntä välttämättä voida enää palauttaa lähtömaahansa, koska kansainvälisen oikeuden ehdoton non refoulement –periaate eli palautuskiellon periaate estää valtioita palauttamasta ihmisiä sellaisiin maihin, joissa he ovat vaarassa joutua vainon, kidutuksen tai muun vakavan vaaran kohteeksi. Viime vuosina Euroopan unionin maahanmuutto- ja turvapaikkapolitiikan keskeisenä tavoitteena on ollut estää paperittomien maahanmuuttajien ja potentiaalisten turvapaikanhakijoiden pääseminen unionin rajojen sisäpuolelle ja välttyä näin maahanmuutosta syntyviltä velvollisuuksilta. Tutkielmassa tarkastellaan Euroopan unionin ja sen jäsenvaltioiden ekstraterritoriaalisten meriulkorajavalvontatoimien suhdetta unionin ja sen jäsenvaltioiden velvollisuuksiin turvata potentiaalisten turvapaikanhakijoiden ihmisoikeuksien toteutuminen. Euroopan ihmisoikeustuomioistuin otti vuonna 2012 kantaa Välimerellä toteutettaviin maahanmuuttajien palauttamisiin ratkaisussaan Hirsi Jamaa ym. v. Italia, jossa se katsoi Italian syyllistyneen Euroopan ihmisoikeussopimuksen 3 artiklan, 13 artiklan sekä sopimuksen neljännen lisäpöytäkirjan 4 artiklan loukkauksiin, kun Italia oli palauttanut aavalla merellä Välimerellä kiinniottamansa henkilöt Libyaan, tarjoamatta heille mahdollisuutta vastustaa palauttamistaan tai hakea kansainvälistä suojelua. Hirsi Jamaa ym. v. Italia -ratkaisun velvoittamana EU:ssa säädettiin uudet, rajaturvallisuusvirasto Frontexin koordinoiman operatiivisen yhteistyön puitteissa suoritettavaa ulkoisten merirajojen valvontaa koskevat säännöt vuonna 2014. Säännöt harmonisoivat unionin jäsenvaltioiden etsintä- ja meripelastusta sekä ulkoisten merirajojen valvontaa koskevia toimia, mutta jättävät silti toivomisen varaa: niillä luodaan EU:n varsinaisen turvapaikkasääntelyn rinnalle rinnakkainen meriturvapaikkamenettely, jossa aavalla merellä tai kolmansien valtioiden alueella tavattuja turvapaikanhakijoita voidaan kohdella olennaisilta osin eri tavalla kuin unioniin tai sen ulkorajoille päässeitä turvapaikanhakijoita.

Polyoxométallates hybrides : vers des systèmes covalents photoactifs dans le visible

Réalisé en cotutelle, sous la direction du Pr. Bernold Hasenknopf, à l'Institut Parisien de Chimie Moléculaire, Université Pierre et Marie Curie (Paris VI, France) et dans le cadre de l'Ecole Doctorale "Physique et Chimie des Matériaux" - Spécialité Chimie Inorganique (ED397).