2,971 research outputs found

    Contribution of type W human endogenous retroviruses to the human genome: Characterization of HERV-W proviral insertions and processed pseudogenes

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    Background: Human endogenous retroviruses (HERVs) are ancient sequences integrated in the germ line cells and vertically transmitted through the offspring constituting about 8% of our genome. In time, HERVs accumulated mutations that compromised their coding capacity. A prominent exception is HERV-W locus 7q21.2, producing a functional Env protein (Syncytin-1) coopted for placental syncytiotrophoblast formation. While expression of HERV-W sequences has been investigated for their correlation to disease, an exhaustive description of the group composition and characteristics is still not available and current HERV-W group information derive from studies published a few years ago that, of course, used the rough assemblies of the human genome available at that time. This hampers the comparison and correlation with current human genome assemblies. Results: In the present work we identified and described in detail the distribution and genetic composition of 213 HERV-W elements. The bioinformatics analysis led to the characterization of several previously unreported features and provided a phylogenetic classification of two main subgroups with different age and structural characteristics. New facts on HERV-W genomic context of insertion and co-localization with sequences putatively involved in disease development are also reported. Conclusions: The present work is a detailed overview of the HERV-W contribution to the human genome and provides a robust genetic background useful to clarify HERV-W role in pathologies with poorly understood etiology, representing, to our knowledge, the most complete and exhaustive HERV-W dataset up to date

    Model based learning for accelerated, limited-view 3D photoacoustic tomography

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    Recent advances in deep learning for tomographic reconstructions have shown great potential to create accurate and high quality images with a considerable speed-up. In this work we present a deep neural network that is specifically designed to provide high resolution 3D images from restricted photoacoustic measurements. The network is designed to represent an iterative scheme and incorporates gradient information of the data fit to compensate for limited view artefacts. Due to the high complexity of the photoacoustic forward operator, we separate training and computation of the gradient information. A suitable prior for the desired image structures is learned as part of the training. The resulting network is trained and tested on a set of segmented vessels from lung CT scans and then applied to in-vivo photoacoustic measurement data

    Predicting a relapse of Graves’ hyperthyroidism in adults during the early phase of treatment with anti-thyroid drugs

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    Introduction: The long-term effectiveness of anti-thyroid drugs (ATD) in the treatment of Graves’ hyperthyroidism (GH) is still unsatisfactory and difficult to predict. The aim of this study was to evaluate the usefulness of a determination of serum level of thyrotropin-binding inhibiting immunoglobulins (second generation TBII assay) in predicting the possibility of relapse in the early phase of pharmacological treatment. Material and methods: We investigated 37 patients within the 20-60 age range with the first occurrence of GH. All patients were treated with thiamazole for 12 months. Clinical assessment, ultrasound estimation of thyroid volume and determination of serum thyrotropin, free thyroxine, free triiodothyronine, thyroid autoantibodies and TBII levels were carried out at the onset and after 1, 3, 6, 9 and 12 months of ATD treatment. Results: The mean follow-up period after ATD withdrawal was 27.24 ± 5.81 months. Of 37 patients 12 (32%) had a relapse of hyperthyroidism (mean time 8.17 ± 6.91 months after drug withdrawal). The difference in TBII levels between the relapse and the remission group was found to be significant after the first month of therapy until the end of ATD treatment. We observed that patients with TBII above 14 IU/L after 3 months and above 8 IU/L after 6 months of therapy relapsed more frequently than patients with lower levels (sensitivity 50% and specificity 92 and 96%, respectively). Conclusions: The study confirmed that TBII estimation in the early phase of ATD could be useful in the proper planning of GH therapy and early qualification to more radical treatment (radioiodine or surgery).Wstęp: Długoterminowa skuteczność farmakologicznego leczenia nadczynności tarczycy w przebiegu choroby Gravesa- Basedowa nadal pozostaje niezadowalająca i trudna do przewidzenia. Celem niniejszego badania była ocena przydatności oznaczeń przeciwciał blokujących wiązanie tyreotropiny (TBII) z receptorem w przewidywaniu możliwości nawrotu nadczynności tarczycy już we wczesnej fazie leczenia farmakologicznego. Materiał i metody: Badaniem objęto 37 chorych z pierwszym incydentem nadczynności tarczycy w przebiegu choroby Gravesa-Basedowa w wieku 20-60 lat. Wszystkich chorych leczono tiamazolem przez okres 12 miesięcy. Przed, a następnie po 1, 3, 6, 9 i 12 miesiącach terapii dokonywano oceny klinicznej, ultrasonograficznego badania tarczycy i oznaczenia TBII (test II generacji) oraz tyreotropiny, wolnej trijodotyroniny i wolnej tyroksyny w surowicy. Wyniki: Okres obserwacji po odstawieniu leku wynosił średnio 27,24 ± 5,81 miesięcy. U dwunastu z 37 chorych nastąpił nawrót nadczynności tarczycy po średnio 8,17 ± 6,91 miesiąca od zakończenia leczenia. Znacząca różnica w poziomach TBII w grupie chorych pozostających w remisji i chorych, u których doszło do nawrotu choroby widoczna była od pierwszego miesiąca terapii przez cały jej okres trwania. U chorych z TBII > 14 IU/l po 3 miesiącach oraz u chorych z TBII > 8 IU/l po 6 miesiącach leczenia znacznie częściej dochodziło do nawrotu nadczynności tarczycy w porównaniu z chorymi z niższymi poziomami TBII (czułość 50% i specyficzność odpowiednio 92% i 96%). Wnioski: Oznaczanie TBII we wczesnej fazie leczenia farmakologicznego może okazać się pomocne w planowaniu dalszego leczenia nadczynności tarczycy i w odpowiednio wczesnym kwalifikowaniu chorych do bardziej radykalnych form terapii nadczynności tarczycy w przebiegu choroby Gravesa-Basedowa (terapia radiojodem, strumektomia)

    Exploring the Potential for Increased Production from the Wave Energy Converter Lifesaver by Reactive Control

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    Fred Olsen is currently testing their latest wave energy converter (WEC), Lifesaver, outside of Falmouth Bay in England, preparing it for commercial operation at the Wavehub test site. Previous studies, mostly focusing on hydrodynamics and peak to average power reduction, have shown that this device has potential for increased power extraction using reactive control. This article extends those analyses, adding a detailed model of the all-electric power take-off (PTO) system, consisting of a permanent magnet synchronous generator, inverter and DC-link. Time domain simulations are performed to evaluate the PTO capabilities of the modeled WEC. However, when tuned towards reactive control, the generator losses become large, giving a very low overall system efficiency. Optimal control with respect to electrical output power is found to occur with low added mass, and when compared to pure passive loading, a 1% increase in annual energy production is estimated. The main factor reducing the effect of reactive control is found to be the minimum load-force constraint of the device. These results suggest that the Lifesaver has limited potential for increased production by reactive control. This analysis is nevertheless valuable, as it demonstrates how a wave-to-wire model can be used for investigation of PTO potential, annual energy production estimations and evaluations of different control techniques for a given WEC device

    Examining the impact of cue similarity and fear learning on perceptual tuning

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    Past research on the effects of associative aversive learning on discrimination acuity has shown mixed results, including increases, decreases, and no changes in discrimination ability. An animal study found that the type of learning experience determined the direction and extent of learning-induced changes. The current preregistered web-based study aimed to translate these findings to humans. Experiment 1 (N = 245) compared changes in stimulus discrimination between simple learning (only one oriented grating cue), coarse differential conditioning (physically distinct cues), and fine differential conditioning (physically similar cues) as well as to their three respective control groups. The discrimination task consisted of a two-alternative-forced-choice task with oriented grating stimuli. During learning, a specific orientation was paired with unpleasant pictures. Our analysis using generative modeling demonstrated weak to moderate evidence that aversive learning did not alter discrimination acuity in any of the groups. In a follow-up experiment (N = 121), we replicated these findings despite successful learning trajectories in all three groups and a more detailed assessment of discrimination acuity. Contrary to prior assumptions, our findings indicate that aversive learning does not enhance perceptual discrimination, and the presence of additional safety cues does not appear to moderate this effect.</p

    Žvynelinė ir uždegiminės odos ligos 2020

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    The aim of this virtual conference is to share and increase dermatovenereology specialists’ knowledge about chronic inflammatory dermatoses. Attendees will be able to listen to latest scientific updates not only on psoriasis, but atopic dermatitis, hidradenitis suppurativa, acne, rosacea and other diseases as well. Experienced lecturers from Lithuania and other countries will present their research works, reviews and rare clinical cases, which are both of theoretical and practical benefit.Šios nuotolinės konferencijos tikslas yra pasidalinti ir pagerinti dermatovenerologijos specialistų žinias apie lėtines uždegimines odos ligas. Konferencijos dalyviams bus suteikta galimybė išgirsti naujausią mokslinę informaciją ne tik apie žvynelinę, tačiau ir apie atopinį dermatitą, pūlingą hidradenitą, aknę, rožinę bei kitas ligas. Patyrę Lietuvos ir užsienio lektoriai pristatys savo tyrimus, apžvalgas ir klinikinius atvejus, kurie naudingi tiek teorinių, tiek praktinių žinių gilinimui

    The role of radiology in forensic dentistry

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    Vários métodos são empregados na identificação de restos humanos, sendo que a maioria é baseada na comparação entre dados ante-mortem e post-mortem disponíveis. Embora a técnica da impressão digital seja considerada a mais precisa, em muitos casos ela não pode ser utilizada, especialmente quando os corpos foram mutilados, decompostos, queimados ou fragmentados. Nestas situações, os métodos empregados pela Odontologia Legal tornam-se extremamente valiosos, uma vez que os dentes e as restaurações são muito resistentes à destruição pelo fogo, preservando numerosas características individuais. Assim, oferecem a possibilidade de uma identificação acurada e aceita pelas autoridades legais. Este breve artigo de revisão descreve os principais avanços alcançados pela Odontologia Legal, nos últimos 25 anos, quanto ao emprego de radiografias ante- e post-mortem no processo de identificação. Dentre os diversos assuntos tratados, destacam-se: suportes especialmente confeccionados para facilitar o posicionamento e a fixação de filmes radiológicos intra-orais em falecidos com rigor mortis; dispositivos para facilitar a reprodução da geometria de imagens com as de ante-mortem; métodos envolvendo radiografias digitalizadas, as quais podem ser facilmente manipuladas por métodos computacionais, armazenadas e transmitidas por "modem" aos locais de desastre em massa; procedimentos para determinação de idade, identificação de indivíduos desdentados por meio da comparação de radiografias oclusais do maxilar e estudos de validação de radiografias tiradas com intervalos ante- e post-mortem de até 30 anos.There are various methods for the identification of human remains; most of them are based on comparisons between available ante- and post-mortem data. Although fingerprinting is the most accurate and precise method, in many cases, such as in mutilated, decomposed, burned or fragmented bodies, it cannot be used, and the dental methods become of the utmost importance, since teeth and dental restorations are very resistant to destruction by fire - they keep numerous characteristics, which are quite unique, and offer the possibility of accurate and legally acceptable identification of remains. This brief review describes the progress of forensic dentistry during the last 25 years, regarding the procedures and techniques that use ante-mortem and post-mortem radiographs. Among the discussed progresses one can point out: a specially designed self-supporting film holder that retains intra-oral films in the mouths of deceased persons whose mandibular musculature has been fixed in rigor mortis; positioning devices suitable for reproducing the geometry of ante-mortem radiographic images; methods involving digital radiographs, which can be easily stored in a central archive, retrieved and transmitted, via modem, to mass casualty sites; age estimation procedures; identification of edentulous individuals comparing radiographs of the maxilla; and studies of validation of dental radiographs taken with ante-mortem and post-mortem intervals of up to 30 years

    Correlation between thyroid stimulating immunoglobulins and thyrotropin binding inhibitory immunoglobulins levels in patients with Graves&#8217; disease

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    Wstęp: Oznaczanie poziomu przeciwciał blokujących wiązanie tyreotropiny z receptorem (TBII, thyrotropin binding inhibitory immunoglobulines) metodą wykorzystującą ludzki rekombinowany receptor tyreotropiny (testy II generacji) charakteryzuje się znacznie wyższą czułością i specyficznością niż testy I generacji. Celem pracy było określenie, czy TBII, oznaczane za pomocą testu II generacji, we właściwy sposób odzwierciedla stopień pobudzenia tkanki tarczycowej i czy możliwe jest zastąpienie oznaczeń przeciwciał stymulujących tarczycę (TSI, thyroid stimulating immunoglobulines) oznaczeniami TBII. Ponadto celem pracy było ustalenie, czy korelacja poziomów TBII i TSI jest zachowana w czasie terapii tyreostatykiem. Materiał i metody: Do badania zakwalifikowano 41 osób z rozpoznaną po raz pierwszy nadczynnością tarczycy w przebiegu choroby Gravesa-Basedowa. Na początku oraz po 1, 3, 6, 9 i 12 miesiącach terapii tiamazolem oznaczano poziom TSI na podstawie wydzielania cAMP w hodowli komórek jajowych chomika chińskiego (CHO, Chinese hamster ovary) oraz TBII testem II generacji. Ponadto po 12 miesiącach leczenia oznaczono poziom przeciwciał blokujących tarczycę (TBAb, thyroid blocking antibodies). Wyniki: Na początku leczenia u 32 chorych (82,05%) stwierdzono pozytywny poziom TSI, a u 35 chorych (89,74%) - pozytywny poziom TBII. Po 12 miesiącach leczenia stwierdzono negatywne stężenie TSI u 67,57% chorych, natomiast negatywny poziom TBII - u 45,85% pacjentów. Dodatnią korelację pomiędzy poziomami przeciwciał TSI i TBII obserwowano przez cały okres terapii, poza okresem po 9 miesiącach leczenia. Wnioski: Poziom TBII odpowiada stopniowi pobudzenia receptora przez przeciwciała stymulujące tarczycę. Dodatnia korelacja utrzymuje się w trakcie leczenia tyreostatykiem i dlatego TBII wydaje się wiarygodnym parametrem umożliwiającym monitorowanie stopnia aktywności choroby i przebiegu leczenia.Introduction: The II generation method using human recombination thyrotropin receptors for measurement of thyrotropin binding inhibitory immunoglobulins (TBII) is characterized by increased sensitivity and specificity in comparison with I generation method. Aim of study was to determine, whether TBII levels measured with II generation assay reflect thyroid stimulation and whether measurement of thyroid stimulating antibodies (TSI) could be replaced by TBII determinations. Specific aim was to evaluate, whether correlation between TSI and TBII levels is stable during antithyroid therapy. Material and methods: 41 patients with the newly diagnosed Graves&#8217; disease were included in the study. TSI (cAMP levels in CHO cell line) and TBII (II generation assay) levels were determined before treatment and after 1, 3, 6, 9 and 12 months of thiamazol therapy. Moreover, thyroid blocking antibodies were determined after 12 months of treatment. Results: 32 patients (82.05%) had positive basic TSI level and 35 patients (89.74%) had positive basic TBII level. After 12 months of therapy negative level of TSI was observed in 67.57% of patients and negative level of TBII was founded in 45.85% of patients. Correlation between TSI and TBII levels was positive during treatment course except time after 9 months of therapy. Conclusions: TBII level is adequate parameter to assess thyroid stimulation intensity. Positive correlation between TSI and TBII levels is present during almost whole treatment course. TBII seems to be reliable parameter in disease activity monitoring and response to therapy
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