Failure to thrive in a girl born into a family affected by familial dysalbuminemic hyperthyroxinemia

Autosomal dominant familial dysalbuminemic hyperthyroxinemia (FDH)is characterized by modified human serum albumin (HSA) inducing asubstantially higher affinity for thyroxine (T4). Histidin or prolinsubstitution on residue R218 produces localized conformationalchanges of HSA creating additional room for T4 binding, leadingto 14-20 fold normal total T4 (TT4) levels. Affected individuals areconsidered euthyroid. Our patient is an 18 months-old swiss girl bornto a mother known for the rare R218P mutation in the HSA gene.She presented with severe failure to thrive (height -2.92 SD, weight-3.6 SD), habitual hip dislocation without anatomical anomaly, latefontanelle closing and protruding ears. Psychomotor development isslightly retarded. Thyroid function testing confirmed extremely high TT4(1446.0 nmol/l) levels, which are similar to her brother's values (1534.4nmol/l and 1757.6 nmol/l respectively). Free T4 seems slightly elevated(26 pmol/l), probably due to methodological reasons. TSH (0.92 mU/l),free T3 (4.4 pmol/l) and thyroxin binding globulin (32 mg/l) are withinthe normal range. Her two half-brothers, affected by the samemutation, are now 18.7 (P1) and 16.6 (P2) years old and wereoriginally described by S. Pannain et al. in 2000. Both werecharacterized by growth retardation (-2.1 and -2.2 SD) before the ageof 4 years. P1 has reached a normal adult height (-0.4 SD) and P2has caught up to normal growth (-0.68 SD) with moderate bonematuration delay. Pubertal development and anterior pituitary functionare adequate. Primary growth and developmental retardation in thefirst years of life with adequate catch-up seem to be a distinctcharacteristic in FDH with R218P mutation. Hip dislocation is typicallyseen in other situations associated to thyroid disorders, like Downsyndrome. These findings might be explained by altered early thyroidhormone utilization in children with FDH.

IgG subclass switch capacity is low in switched and in IgM-only, but high in IgD+IgM+, post-germinal center (CD27+) human B cells.

Recent studies have shown that in humans the germinal center reactions produce three types of V(D)J mutated B cells in similar proportions, i.e. Ig-switched, IgD-IgM+ (IgM-only) and IgD+IgM+ cells, and that together they form the CD27+ compartment of recirculating B cells. We investigated the Ig isotype switch capacity of these cells. Peripheral blood B subsets were sorted and IgG subclass secretion in presence or absence of IL-4 was compared in B cell assays which lead to Ig secretion in all (coculture with EL-4 thymoma cells) or only in CD27+ (CD40L stimulation) B cells. Already switched IgG+ B cells showed no significant sequential switch and IgM-only cells also had a low switch capacity, but IgD+CD27+ switched as much as IgD+CD27- B cells to all IgG subclasses. Thus, in switched B cells some alterations compromising further switch options occur frequently; IgM-only cells may result from aborted switch. However, IgD+CD27+ human B cells, extensively V(D)J mutated and "naive" regarding switch, build up a repertoire of B cells combining (1) novel cross-reactive specificities, (2) increased differentiation capacity (including after T-independent stimulation by Staphylococcus aureus Cowan I) and (3) the capacity to produce appropriate isotypes when they respond to novel pathogens.

Londres, terra promesa: l'emigració de joves universitaris titulats catalans a Londres

L’alta taxa d’atur juvenil a Catalunya i la precarització persistent del mercat laboral per als joves, han provocat que molts d’ells es plantegin marxar a l’estranger per a provar sort. Segons l’INE, al 2012 van emigrar 10791 catalans i el 35,7% són joves d’entre 16 i 34 anys. El Regne Unit va ser la tercera destinació preferida, amb 958 catalans emigrants reconeguts. La globalització ha difuminat les fronteres i ha obert els horitzons a empreses i treballadors. Les experiències internacionals són cada cop més necessàries si volem formar part d’aquest món, però tenen les seves contrapartides. La present investigació estudia el cas de 10 joves catalans amb titulacions universitàries que han marxat a Londres a la recerca d’aquesta experiència internacional, tot desitjant assentar les bases d’una carrera professional exitosa. El focus d’estudi és conèixer les motivacions de l’emigració que han trobat a la ciutat anglesa i quines són les expectatives de futur

Le ballon ne tourne pas rond en Afrique: les effets pervers d'une "extraversion dépendante"

Les dirigeants du football africain ont abandonné les politiques protectionnistes pour bâtir des sélections nationales performantes. Ils s'orientent vers des stratégies libérales qui favorisent le départ de joueurs à l'étranger et leur rapatriement pour les matches de l'équipe nationale. De plus en plus systématiquement, les footballeurs d'origine africaine ayant grandi en Europe sont « récupérés ». Si le recours à la « diaspora » permet de compenser le gâchis de talents résultant de la faiblesse de la formation locale de footballeurs, cette pratique empêche le football national de se structurer. The managers of African football have abandoned their protectionist policies in order to build up high-performing national teames. They are adopting liberal strategies fostering the departure of players abroad and their repatriation for national team matches. Footballers of African origin who have grown up in Europe are increasingly often being "retrieved". Although this recourse to the "diaspora" offsets the waste of talent brought about by the shortcomings of local training for footballers, this practice puts a brake on the structuring of national football.

El doblatge i la subtitulació de The Nightmare before Christmas: una anàlisi contrastiva de les dues grans modalitats de la traducció audiovisual

Aquest treball es proposa analitzar la traducció del doblatge i la subtitulació d'un text audiovisual concret per identificar les tendències i les estratègies de traducció que imperen en cada modalitat. Així mateix, pretén comprovar si a la pràctica es respecten les convencions i normes de la traducció audiovisual

Development of a Subgrade Drainage Model for Unpaved Roads, TR-654, 2015

With over 68 thousand miles of gravel roads in Iowa and the importance of these roads within the farm-to-market transportation system, proper water management becomes critical for maintaining the integrity of the roadway materials. However, the build-up of water within the aggregate subbase can lead to frost boils and ultimately potholes forming at the road surface. The aggregate subbase and subgrade soils under these gravel roads are produced with material opportunistically chosen from local sources near the site and, many times, the compositions of these sublayers are far from ideal in terms of proper water drainage with the full effects of this shortcut not being fully understood. The primary objective of this project was to provide a physically-based model for evaluating the drainability of potential subbase and subgrade materials for gravel roads in Iowa. The Richards equation provided the appropriate framework to study the transient unsaturated flow that usually occurs through the subbase and subgrade of a gravel road. From which, we identified that the saturated hydraulic conductivity, Ks, was a key parameter driving the time to drain of subgrade soils found in Iowa, thus being a good proxy variable for accessing roadway drainability. Using Ks, derived from soil texture, we were able to identify potential problem areas in terms of roadway drainage . It was found that there is a threshold for Ks of 15 cm/day that determines if the roadway will drain efficiently, based on the requirement that the time to drain, Td, the surface roadway layer does not exceed a 2-hr limit. Two of the three highest abundant textures (loam and silty clay loam), which cover nearly 60% of the state of Iowa, were found to have average Td values greater than the 2-hr limit. With such a large percentage of the state at risk for the formation of boils due to the soil with relatively low saturated hydraulic conductivity values, it seems pertinent that we propose alternative design and/or maintenance practices to limit the expensive repair work in Iowa. The addition of drain tiles or French mattresses my help address drainage problems. However, before pursuing this recommendation, a comprehensive cost-benefit analysis is needed.

Effects of coastal submarine canyons on tsunami propagation and impact

We analyse the variations produced on tsunami propagation and impact over a straight coastline because of the presence of a submarine canyon incised in the continental margin. For ease of calculation we assume that the shoreline and the shelf edge are parallel and that the incident wave approaches them normally. A total of 512 synthetic scenarios have been computed by combining the bathymetry of a continental margin incised by a parameterised single canyon and the incident tsunami waves. The margin bathymetry, the canyon and the tsunami waves have been generated using mathematical functions (e.g. Gaussian). Canyon parameters analysed are: (i) incision length into the continental shelf, which for a constant shelf width relates directly to the distance from the canyon head to the coast, (ii) canyon width, and (iii) canyon orientation with respect to the shoreline. Tsunami wave parameters considered are period and sign. The COMCOT tsunami model from Cornell University was applied to propagate the waves across the synthetic bathymetric surfaces. Five simulations of tsunami propagation over a non-canyoned margin were also performed for reference. The analysis of the results reveals a strong variation of tsunami arrival times and amplitudes reaching the coastline when a tsunami wave travels over a submarine canyon, with changing maximum height location and alongshore extension. In general, the presence of a submarine canyon lowers the arrival time to the shoreline but prevents wave build-up just over the canyon axis. This leads to a decrease in tsunami amplitude at the coastal stretch located just shoreward of the canyon head, which results in a lower run-up in comparison with a non-canyoned margin. Contrarily, an increased wave build-up occurs on both sides of the canyon head, generating two coastal stretches with an enhanced run-up. These aggravated or reduced tsunami effects are modified with (i) proximity of the canyon tip to the coast, amplifying the wave height, (ii) canyon width, enlarging the areas with lower and higher maximum height wave along the coastline, and (iii) canyon obliquity with respect to the shoreline and shelf edge, increasing wave height shoreward of the leeward flank of the canyon. Moreover, the presence of a submarine canyon near the coast produces a variation of wave energy along the shore, eventually resulting in edge waves shoreward of the canyon head. Edge waves subsequently spread out alongshore reaching significant amplitudes especially when coupling with tsunami secondary waves occurs. Model results have been groundtruthed using the actual bathymetry of Blanes Canyon area in the North Catalan margin. This paper underlines the effects of the presence, morphology and orientation of submarine canyons as a determining factor on tsunami propagation and impact, which could prevail over other effects deriving from coastal configuration.

Variable queen number in ant colonies: no impact on queen turnover, inbreeding, and population genetic differentiation in the ant Formica selysi.

Variation in queen number alters the genetic structure of social insect colonies, which in turn affects patterns of kin-selected conflict and cooperation. Theory suggests that shifts from single- to multiple-queen colonies are often associated with other changes in the breeding system, such as higher queen turnover, more local mating, and restricted dispersal. These changes may restrict gene flow between the two types of colonies and it has been suggested that this might ultimately lead to sympatric speciation. We performed a detailed microsatellite analysis of a large population of the ant Formica selysi, which revealed extensive variation in social structure, with 71 colonies headed by a single queen and 41 by multiple queens. This polymorphism in social structure appeared stable over time, since little change in the number of queens per colony was detected over a five-year period. Apart from queen number, single- and multiple-queen colonies had very similar breeding systems. Queen turnover was absent or very low in both types of colonies. Single- and multiple-queen colonies exhibited very small but significant levels of inbreeding, which indicates a slight deviation from random mating at a local scale and suggests that a small proportion of queens mate with related males. For both types of colonies, there was very little genetic structuring above the level of the nest, with no sign of isolation by distance. These similarities in the breeding systems were associated with a complete lack of genetic differentiation between single- and multiple-queen colonies, which provides no support for the hypothesis that change in queen number leads to restricted gene flow between social forms. Overall, this study suggests that the higher rates of queen turnover, local mating, and population structuring that are often associated with multiple-queen colonies do not appear when single- and multiple-queen colonies still coexist within the same population, but build up over time in populations consisting mostly of multiple-queen colonies.

Air Formed Arch Culvert Construction: Crawford County, Construction Reports, HR-314, 1991

Iowa's secondary roads contain nearly 15,000 bridges which are less than 40 feet (12 m) in length. Many of these bridges were built several decades ago and need to be replaced. Box culvert construction has proven to be an adequate bridge replacement technique. Recently a new bridge replacement alternative, called the Air-0-Form method, has emerged which has several potential advantages over box culvert construction. This new technique uses inflated balloons as the interior form in the construction of an arch culvert. The objective of research project HR-314 was to construct an air formed arch culvert to determine the applicability of the Air-O-Form technique as a county bridge replacement alternative.

Mothers' experience of their contact with their stillborn infant: an interpretative phenomenological analysis.

BACKGROUND: Guidelines surrounding maternal contact with the stillborn infant have been contradictory over the past thirty years. Most studies have reported that seeing and holding the stillborn baby is associated with fewer anxiety and depressive symptoms among mothers of stillborn babies than not doing so. In contrast, others studies suggest that contact with the stillborn infant can lead to poorer maternal mental health outcomes. There is a lack of research focusing on the maternal experience of this contact. The present study aimed to investigate how mothers describe their experience of spending time with their stillborn baby and how they felt retrospectively about the decision they made to see and hold their baby or not. METHOD: In depth interviews were conducted with twenty-one mothers three months after stillbirth. All mothers had decided to see and the majority to hold their baby. Qualitative analysis of the interview data was performed using Interpretive Phenomenological Analysis. RESULTS: Six superordinate themes were identified: Characteristics of Contact, Physicality; Emotional Experience; Surreal Experience; Finality; and Decision. Having contact with their stillborn infant provided mothers with time to process what had happened, to build memories, and to 'say goodbye', often sharing the experience with partners and other family members. The majority of mothers felt satisfied with their decision to spend time with their stillborn baby. Several mothers talked about their fear of seeing a damaged or dead body. Some mothers experienced strong disbelief and dissociation during the contact. CONCLUSIONS: Results indicate that preparation before contact with the baby, professional support during the contact, and professional follow-up are crucial in order to prevent the development of maternal mental health problems. Fears of seeing a damaged or dead body should be sensitively explored and ways of coping discussed. Even in cases where mothers experienced intense distress during the contact with their stillborn baby, they still described that having had this contact was important and that they had taken the right decision. This indicates a need for giving parents an informed choice by engaging in discussions about the possible benefits and risks of seeing their stillborn baby.

Systematic surgical closure of patent foramen ovale in selected patients with cerebrovascular events due to paradoxical embolism. Early results of a preliminary study.

OBJECTIVE: To define therapeutic strategy for management of patients with ischemic stroke due to a high probability of paradoxical embolism through a Patent Foramen Ovale (PFO). METHODS: Since 1988 all consecutive patients with cerebrovascular events and PFO from the Stroke Registry of our population-based primary-care center are prospectively studied and followed. Since 1992, among 118 patients with cryptogenic embolic brain infarct or transient ischemic attack (TIA) and PFO, 32 consecutive patients younger than 60 years who presented at least two of the following criteria were admitted for surgery: history of Valsalva strain before stroke (11); multiple clinical events (13); multiple infarcts on brain Magnetic Resonance Imaging (MRI) (15); atrial septal aneurysm (ASA) (16); large right-to-left shunt (> 50 microbubbles) (12). RESULTS: Operative time 135' +/- 33'. CPB time 34' +/- 14'. Aortic crossclamping time 16' +/- 6'. Post-operative bleeding 485 +/- 170 ml. No homologous blood transfusion required. No neurological, cardiac or renal complications. All patients were followed-up corresponding to a cumulative time of 601 patient-months. This revealed no recurrent vascular events nor silent new brain lesions on brain MRI. Systematic simultaneous contrast Trans Esophageal Echocardiography (TEE)-Trans Cranial Doppler showed a small residual interatrial shunt in two patients. CONCLUSION: Surgical closure of a patent foramen ovale can be accomplished with very low morbidity and reduce efficiently the risk of stroke recurrence. It seems to be the option of choice in selected patients with a higher (> 1.5%/year) risk of stroke recurrence.

Suurnopeushilaohjain IGB-transistoreille

Hilalta ohjattavien tehokytkimien, kuten IGBT tai MOSFET, ohjaaminen toteutetaan ohjausjännitettä muuttamalla. Hilaohjaimen tehtävä on ladata tehokytkimen hilakapasitanssia ohjattuun jännitteeseen. Hilaohjaimen siirtämän varauksen suuruuteen vaikuttaa hilakapasitanssin todellinen suuruus ja käytettävä ohjausjännite. Hilaohjaimen virrankäsittelykyky määrittää hilaohjaimen nopeuden siinä mielessä, että ohjattavan komponentin hilavaraus tulisi pystyä lataamaan ja purkamaan tietyssä suhteessa kytkentätaajuuteen. Kytkentätaajuuksien kasvaessa myös hilaohjaimen virrankäsittelykyky sekä hilaohjaimen teho joutuvat uudelleen arvioitaviksi. Työssä perehdytään IGBT:n toimintaan ja hilaohjainratkaisuihin suurilla kytkentätaajuuksilla. Työssä ontutkittu mahdollisuutta rakentaa IGBT:n hilaohjain jo markkinoilla olevista MOSFET:ien hilaohjaimista. Suurnopeushilaohjaimesta suunnitellaanja rakennetaan prototyyppi. Prototyypin suoriutumista tehtävistään tarkastellaan tekemällä mittauksia. Lopuksi arvioidaan asioita joiden tulee muuttua matkalla kohti megahertsien kytkentätaajuuksia.

Vaihto-omaisuuden arvostamismallin kehittäminen

Tämän diplomityön tavoitteena oli rakentaa uusi vaihto-omaisuuden arvostamismalli kohdeyritykseen. Vanha arvostamismallioli todettu epätarkaksi ja vaikeasti päivitettäväksi. Uuden mallin oli tarkoitus olla tarkempi ja helpommin päivitettävissä, mutta kumminkin käyttäjäystävällinen. Toisena tavoitteena oli kuvata tuotantoprosessi, jossa kustannukset sitoutuvat tuotteisiin. Työn voi jakaa kolmeen vaiheeseen. Ensin esiteltävä teoria-aineisto pohjautuu pääasiassa vaihto-omaisuuden arvostamisen teoriaan sekä kustannuslaskennan teoriaan. Toisessa vaiheessa kuvataan yrityksen tämänhetkinentuotantoprosessi sekä sen tavoitetila. Viimeisenä vaiheena on arvostamismallin kehittäminen, jossa käydään yksityiskohtaisesti läpi uuden mallin rakenne, logiikka ja sen antamat tulokset. Työn keskeisimpänä lopputuloksena oli taulukkolaskentapohjaisena toteutettu arvostamismalli, mikä huomio erilaiset kustannusrakenteet sekä laskee jälkihinnoittelussa tarvittavan painotetun keskihinnan.Toisena lopputuloksena saatiin tuotannon prosessikuvaukset. Jatkokehitystarpeita kustannuslaskennan osalta ilmeni työn myötä, joihin tullaan myös jatkossa puuttumaan.

Polttomoottorin sähkömekaaninen venttiilinohjaus

Työssä tarkastellaanpolttomoottorin venttiilitoimilaitteen toteuttamista sähkömekaanisesti. Tähän mennessä kehitetyt ratkaisut ja rakennetut prototyypit soveltuvat pääosin henkilöautojen vapaasti hengittävien ottomoottoreiden venttiilien ohjaukseen. Venttiilien sähkömekaanisen ohjauksen soveltuvuutta suuriin polttomoottoreihin kuten esimerkiksi voimalaitosdieseleihin on myös tarkasteltu, mutta ongelmaksi muodostuu riittävän suuren magneettisen voiman kehittäminen magneettivuon reitillä esiintyvän suuren ilmavälin takia. Työssä esitetään valmiita ja kehitteillä olevia ratkaisuja polttomoottorin venttiilien ohjaukseen sähkömekaanisesti. Lisäksi käsitellään parannusmahdollisuuksia jo valmiisiin ratkaisuihin ja käydään läpi sähkömekaanisen venttiilinohjauksen ongelmakohtia. Suomeksi ei ole kovin paljon julkaistua materiaalia polttomoottorin venttiilien sähkömekaanisesta ohjauksesta, joten työ tukeutuu pääosin Internetissä julkaistuihin artikkeleihin sekä sähköpostin välityksellä käytyihin keskusteluihin niiden tahojen kanssa, jotka tutkivat ja kehittävät polttomoottorinsähkömekaanista venttiilien ohjausta. Venttiilien sähkömekaanisen ohjauksen tutkiminen tällä hetkellä jakautuu pääpainotteisesti sähkömagneettisen osuuden ja säätöteknisen osuuden tutkimiseen ja kehittämiseen. Työssä ei mennä näiden aihepiirien syvälliseen analysointiin vaan esitetään tämän hetkisentutkimuksen painopisteet ja lähdeviitteet aihepiiriä syventäviin julkaisuihin.

Evidence of recombination in putative ancient asexuals.

Ancient asexuals have been considered to be a contradiction of the basic tenets of evolutionary theory. Barred from rearranging genetic variation by recombination, their reduced number of gene arrangements is thought to hamper their response to changing environments. For the same reason, it should be difficult for them to avoid the build-up of deleterious mutations. Several groups of taxonomically diverse organisms are thought to be ancient asexuals, although clear evidence for or against the existence of recombination events is scarce. Several methods have recently been developed for predicting recombination events by analyzing aligned sequences of a given region of DNA that all originate from one species. The methods are based on phylogenetic, substitution, and compatibility analyses. Here we present the results of analyses of sequence data from different loci studied in several groups of evolutionarily distant species that are considered to be ancient asexuals, using seven different types of analysis. The groups of organisms were the arbuscular mycorrhizal fungi (Glomales), Darwinula stevensoni (Darwinuloidea crustacean ostracods) and the bdelloid rotifers (Bdelloidea), which are thought to have been asexual for the last 400, 25-100, and 35-40 Myr, respectively. The seven different analytical methods evaluated the evolutionary relationships among haplotypes, and these methods had previously been shown to be reliable for predicting the occurrence of recombination events. Despite the different degree of genetic variation among the different groups of organisms, at least some evidence for recombination was found in all species groups. In particular, predictions of recombination events in the arbuscular mycorrhizal fungi were frequent. Predictions of recombination were also found for sequence data that have previously been used to infer the absence of recombination in bdelloid rotifers. Although our results have to be taken with some caution because they could signal very ancient recombination events or possibly other genetic variation of nonrecombinant origin, they suggest that some cryptic recombination events may exist in these organisms.