465 research outputs found

    Susceptibility genes in hereditary breast cancer

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    Skatta lido – Analysis to design

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    Katajanokanlaituri 2:ssa sijaitsee tällä hetkellä väliaikaiseksi suunniteltu Allas Sea Pool -meriuimala. Paikalle on tehty lukuisia toteutumattomia suunnitelmia. Paikalle ollaan laatimassa ensimmäistä asemakaavaa, mutta kaavoitusprosessi on edennyt hitaasti. Vuonna 2016 avattu Allas Sea Pool - meriuimala on ensimmäinen paikalle toteutettu rakennus. Jännittävän poliittisen ja poleemisen tilanteen lisäksi myös tontin rakennustekniset olosuhteet ovat erityiset. Tässä diplomityössä esitetään suunnitelma tontin käytöstä Allas Sea Poolin jälkeen: Paikalle ehdotetaan uutta, hienompaa ja hauskempaa uimalaa julkisena liikuntapalveluna. Työ koostuu tutkielmaosasta ja siihen pohjautuvasta konseptitasoisesta suunnitelmasta. Tutkielmaosan myötä vakuutuin siitä, että julkinen uimala olisi paras vaihtoehto tälle paikalle. Asetin tehtäväkseni suunnitella paikalle mahdollisimman hienon julkisen uimalan. Pitkällisen mietinnän,tutkimusten ja kokeilujen jälkeen Presidentinlinnan edustan etelärantatontti ansaitsisi jo harkitun arkkitehtonisen ratkaisun ja käyttötarkoituksen. Siihen voidaan päästä nykyisellä tietoperustalla ja tulevaisuudesta unelmoimalla. Työn tutkielmapuoliskon lähdeaineistona käytetään tonttia koskevia toteutumattomia suunnitelmia, rakennettua lähiympäristöä, sekä Allas Sea Poolia, joita käsitellään arkkitehtonisina lähdeaineistoina. Niistä etsitään diplomityön suunnitelmaosuuteen oppeja, kuten ratkaisuperiaatteita tai esteitä. Allas Sea Poolin arkkitehtuuria, sen käyttökokemusta ja toiminnallisuutta arvioidaan empiirisenä koeasetelmana. Diplomityön lopputuloksena esitellään uimalasuunnitelma luonnoksin, illustraatioin ja arkkitehtipiirustuksin. Diplomityöprosessin myötä suunnittelutapani ja ajattelukeinoni, sekä taiteen tekemisen tapani osoittautuivat lopulta käyttökelpoisiksi ja tuloksellisiksi. Uskon, että uiminen suunnittelmassani Skattan uimalassa olisi hulppea ja arkea kohottava kokemus. Suunnitelma ei kuitenkaan vielä ole täydellinen. Jotta kaikki tutkielmavaiheessa tekemäni havainnot saataisi osaksi arkkitehtuuria, olisi suunnittelua jatkettava edelleen.Currently situated in Katajanokanlaituri 2 is a temporary lido, Allas Sea Pool. Many unrealised designs have been made for the lot. The first zoning plan for the area is in the making, but process has been slow. Allas Sea Pool is the first building ever to rise on the location. The area has been a subject of exciting political dispute, which makes building circumstances on the lot even more special. In this thesis a design is introduced for the use of the lot after Allas Sea Pool: A new lido that is more refined and more fun than it’s predecessor. The new lido is designed to be a public service. The thesis consists of a leading study process and a conceptual design. The design is based on the information gathered in the study. Findings made in the study have convinced me that a public lido is indeed the best alternative for this particular site. The mission has been to create a lido as beautiful as possible. After careful consideration, studying and experimentation it is clear that such a prominent lot deserves an equally prominent function and architecture of utmost quality to facilitate it. This can already be achieved by utilising current knowledge and a dreamer mindset. The material for the study-half of the work consists of the location’s unrealised designs, surrounding buildings and the design and realisation of Allas Sea Pool. This material is carefully studied and utilised in the design process. The quality of the Allas Sea Pool is examined as an empiric test setting. The design is presented through concept art, illustrations and architectural drawings. My design an thought processes proved to be effective. I believe that taking a swim in the new lido would be an exhilarating experience. However, the design is not yet fully complete. In order to bring all the findings as part of the lido’s architecture, the process shoud be continued.Media files notes: Diplomity

    Alternative cytology triage strategies for primary HPV screening

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    Publisher Copyright: © 2022 The AuthorsObjective. Primary HPV screening programmes for cervical cancer have been implemented in many European countries using a cytology triage. Nonetheless, the optimal cytology triage strategy for minimizing the harms and maximizing the benefits is yet unclear. We identified key characteristics of different algorithms for HPV screening with cytology triage.Methods. Using the Finnish randomized HPV screening trial data, we formulated five post-hoc algorithms for HPV screening with a cytology triage, one for HPV screening without a triage and one for cytology screening. Sensitivity, specificity, positive predictive value, colposcopy referral rate and cumulative sensitivity for CIN II + s detected during the first and second screening rounds of the trial were calculated for all algorithms.Results. In the first screening round, direct referral of HPV positives to colposcopy led to the highest sensitivity (94%) accompanied by the lowest specificity (93%). Following HPV positives up with one repeat screen showed 86% sensitivity and 97% specificity. The corresponding figures with two repeat screens were 84% and 98%. In HPV algorithms, where cytology negative HPV positive individuals had no follow-up, the sensitivities were 65-82% and the specificities 98-99%. The Cytology algorithm had a low sensitivity (69%) with a high specificity (99%). Compared to the first round, the second-round sensitivities were lower and specificities similar or higher.Conclusions. The best balance between sensitivity and specificity was achieved by an HPV algorithm with two repeated follow-up tests. However, all HPV algorithms with cytology triage increased colposcopy volume more than the cytology algorithm and thus provoked overdiagnosis.(c) 2022 The Authors. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license (http:// creativecommons.org/licenses/by-nc-nd/4.0/).Peer reviewe

    ”Halusin oikeisiin töihin, mut ehkä sitä ei kuunneltu.” : Elämänkulullinen haastattelututkimus vammaisten nuorten työntekijäkansalaisuuden tavoittelusta

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    Vammaispolitiikan viime vuosikymmenten keskeisin tavoite on ollut vammaisten henkilöiden yhteiskunnallisen osallisuuden edistäminen ja sosioekonomisen aseman parantaminen. Keskeisenä keinona on kehitetty vammaisten henkilöiden ammatillista koulutusta työelämäosallisuuden edellytysten parantamiseksi. Koulutus- ja työvoimapoliittisista linjauksista ja toimista huolimatta vammaisten henkilöiden osallisuus avoimilla työmarkkinoilla on edelleen heikkoa. Tarkastelen pro gradussani vammaisten nuorten kokemuksia osallisuudestaan työelämässä sekä heidän antamia merkityksiä työntekijäkansalaisuudelleen. Teoreettinen viitekehykseni ammentaa yhteiskuntatieteellisestä vammaistutkimuksesta, jossa keskeistä on korostaa vammaisuutta sosiaalisesti rakentuneena ilmiönä (mm. Goodley 2014; Oliver & Barnes 2012; Vehmas 2009). Käytän analyysissäni apuna medikalistisen diskurssin, ableismin ja hallinnan käsitteitä. Liitän vammaisuuden medikalistisen diskurssin ja ableististen käytäntöjen johtavan yksilön ulkopuolelta tulevaan hallintaan, jota vammaiset nuoret kohtaavat elämänkulussaan. Tutkielmani aineisto koostuu viiden nuoren elämäkerrallisista teemahaastatteluista. Tarkastelen erityisesti sitä, miten nuorten kertomukset ja merkityksenanto heijastelevat yhteiskunnassa vaikuttavia ableistisia käytänteitä, vammaisten henkilöiden hallintaa ja vammaisuuden medikalistisen diskurssin merkitystä vammaisen henkilön elämänkulussa. Aineiston laadullinen analyysi nojaa teoriaohjaavaan analyysiin, jossa tämän tutkielman käsitteet ja aiempi tutkimus ovat jatkuvassa vuorovaikutuksessa nuorten kertomusten kanssa. Analyysissäni väitän, että vammaisten työelämäoikeudet, poliittinen ohjaus ja retoriikka sekä vammaisten nuorten kokemukset työntekijäkansalaisuutensa edellytyksistä ovat keskenään ristiriidassa. Merkittävimpänä ongelmana tuon esiin kyvyttömyyden kuulla ja paneutua nuorten vahvuuksiin ja etsiä ratkaisuja, joissa vammaisille nuorille syntyy aidosti mahdollisuus saavuttaa osallisuus työmarkkinoilla. Esitän tämän ilmentävän yhteiskunnassa syvään juurtuneita asenteita ja tapaa hallita vammaisia henkilöitä medikalistisesta diskurssista käsin. Vammaisten nuorten työelämäosallisuutta vaikeuttaa edelleen merkittävästi keskittyminen yksilön rajoitteisiin ja vammaan sen sijaan, että huomio kiinnittyisi mahdollisuuksiin, yksilöllisiin taitoihin, osaamisen vahvistamiseen ja osallisuutta vahvistavaan tukeen

    Loss of ATRX/DAXX expression and alternative lengthening of telomeres in uterine leiomyomas

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    Background Uterine leiomyomas (ULs) are the most common gynecologic tumors and affect 3 of every 4 women by the age of 50 years. The majority of ULs are classified as conventional tumors, whereas 10% represent various histopathological subtypes with features that mimic malignancy. These subtypes include cellular and mitotically active ULs and ULs with bizarre nuclei. Uterine leiomyosarcoma (ULMS), the malignant counterpart of UL, is an aggressive cancer with poor overall survival. The early diagnosis and preoperative differentiation of ULMS from UL are often challenging because their symptoms and morphology resemble one another. Recent studies have shown frequent loss of alpha-thalassemia/mental retardation syndrome X-linked (ATRX) or death domain-associated protein (DAXX) expression in ULMS, and this is often associated with an alternative lengthening of telomeres (ALT) phenotype. Methods To investigate ATRX and DAXX expression and the presence of ALT in UL subtypes, immunohistochemical and telomere-specific fluorescence in situ hybridization analyses were performed. The study material consisted of 142 formalin-fixed, paraffin-embedded tissue samples representing various UL subtypes and 64 conventional ULs. Results A loss of ATRX or DAXX and/or ALT was detected in 6.3% of the histopathological UL subtype samples (9 of 142). Two patients whose ULs showed either ATRX loss or ALT were later diagnosed with a pulmonary smooth muscle tumor. Pulmonary tumors displayed molecular alterations found in the corresponding uterine tumors, which indicated metastasis to the lungs. All conventional ULs displayed normal ATRX, DAXX, and telomeres. Conclusions These results highlight the differences between conventional and histopathologically atypical ULs and indicate that some UL subtype tumors may harbor long-term malignant potential. Cancer 2018;124:4650-4656. (C) 2018 American Cancer Society.Peer reviewe

    Characterization of MED12, HMGA2, and FH alterations reveals molecular variability in uterine smooth muscle tumors

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    Uterine smooth muscle tumors range from benign leiomyomas to malignant leiomyosarcomas. Based on numerous molecular studies, leiomyomas and leiomyosarcomas mostly lack shared mutations and the majority of tumors are believed to develop through distinct mechanisms. To further characterize the molecular variability among uterine smooth muscle tumors, and simultaneously insinuate their potential malignant progression, we examined the frequency of known genetic leiomyoma driver alterations (MED12 mutations, HMGA2 overexpression, biallelic FH inactivation) in 65 conventional leiomyomas, 94 histopathological leiomyoma variants (18 leiomyomas with bizarre nuclei, 22 cellular, 29 highly cellular, and 25 mitotically active leiomyomas), and 51 leiomyosarcomas. Of the 210 tumors analyzed, 107 had mutations in one of the three driver genes. No tumor had more than one mutation confirming that all alterations are mutually exclusive. MED12 mutations were the most common alterations in conventional and mitotically active leiomyomas and leiomyosarcomas, while leiomyomas with bizarre nuclei were most often FH deficient and cellular tumors showed frequent HMGA2 overexpression. Highly cellular leiomyomas displayed the least amount of alterations leaving the majority of tumors with no known driver aberration. Our results indicate that based on the molecular background, histopathological leiomyoma subtypes do not only differ from conventional leiomyomas, but also from each other. The presence of leiomyoma driver alterations in nearly one third of leiomyosarcomas suggests that some tumors arise through leiomyoma precursor lesion or that these mutations provide growth advantage also to highly aggressive cancers. It is clinically relevant to understand the molecular background of various smooth muscle tumor subtypes, as it may lead to improved diagnosis and personalized treatments in the future.Peer reviewe

    Turvallinen tiedonhallinta – vaikuttavat sähköiset palvelut. Odotettavissa koko maassa -seminaari 4.10.2018

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    Itä-Suomen yliopistolla Kuopiossa 4.10.2018 järjestetyn "Odotettavissa koko maassa" -seminaarin aiheena oli turvallinen tiedonhallinta ja vaikuttavat sähköiset palvelut. Nyt kahdeksatta kertaa järjestetyssä sosiaali- ja terveydenhuollon tiedonhallinnan keskusteluforumissa kuultiin asiantuntijoiden esityksiä ajankohtaisista teemoista sosiaali- ja terveydenhuollon tiedonhallinnan näkökulmasta. Tänä vuonna teemoiksi valikoitui potilasturvallisuus, tietosuoja ja SoTe uudistuksen vaikutukset. Itä-Suomen yliopistolla Kuopiossa 4.10.2018 järjestetyn "Odotettavissa koko maassa" -seminaarin aiheena oli turvallinen tiedonhallinta ja vaikuttavat sähköiset palvelut. Nyt kahdeksatta kertaa järjestetyssä sosiaali- ja terveydenhuollon tiedonhallinnan keskusteluforumissa kuultiin asiantuntijoiden esityksiä ajankohtaisista teemoista sosiaali- ja terveydenhuollon tiedonhallinnan näkökulmasta. Tänä vuonna teemoiksi valikoitui potilasturvallisuus, tietosuoja ja SoTe uudistuksen vaikutukset.&nbsp

    Usage and usability of one dry powder inhaler compared to other inhalers at therapy start: an open, non-interventional observational study in Poland and Germany

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    Introduction: Inhalation is the preferred route of drug administration for patients with asthma or COPD. It is generally predicted that there is a high error rate in inhaler usage, especially at the therapy start. The primary objective of this study was the validation of a questionnaire that can be used for assessing a successful inhalation technique, patient satisfaction as well as the compliance in daily practice.The secondary objective was to examine the “real-life” usage of one inhalation device in comparison with other devices at the start of the therapy. Material and methods: This open, multi centre and non-interventional study was designed to examine usage and usability of dry powder inhaler Easyhaler® (EH) (Orion Pharma, Finland) and other inhalers assessed by the physicians as well as by the patients. Inclusion criteria for patients were a physician-diagnosis of COPD or asthma or children with asthmatic disease, therapy start with an inhalation device and no or only few experiences with inhaler usage (inhaler usage for not more than 3 months). Each physician enrolled an equal number of patients in each group. Results: 263 adult/adolescent patients with asthma and 115 with COPD as well as 164 children with asthmatic disease were enrolled. 49.4% of the adult/adolescent patients with asthma used an EH and 50.6% other inhalers. In the case of COPD, 47.8% were treated with an EH and 52.2% used other inhalation devices. Finally, 50.6% of the children with asthmatic disease used an EH and 49.4% were treated with other inhalers. Inhaler usage, patient satisfaction, compliance and patients assessments of usability were better when the patients used an EH. Inconvenient features were mainly documented for other inhalers. The analysis of Cronbachs alpha clearly showed the consistency of the received data from all patients. In addition, there was a large association between the assessment of the inhaler usage and the general assessment of the used inhaler in all patient groups. Conclusion: The results of this study show that investigators found EH easy to teach, the patients found it easy to use and their satisfaction with the device was high in comparison to other inhalation devices. Thus EH can be matched to many patients already at the therapy start. In addition, the high consistency of the received data and large association of the assessment of the inhaler usage and the general assessment of the inhaler indicate that the used questionnaires were appropriate tools to examine usage and usability of inhaler devices in adult patients and children

    Patient Inspiratory Maneuver Performance; Peak Lungpower, Acceleration and Volume

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    Background: Use of drug delivery devices between nebulizers, dry powder inhalers (DPIs), or metered dose inhalers (MDIs), for treating patients with asthma and chronic obstructive pulmonary disease (COPD), is based on patients' capability of coordinating the inhalation maneuver and achieving sufficient airflow. There are limited data available with regard to how patients meet the requirements of successful inhalation performance, and how the concept of inspiratory lungpower could be applied. The aim of this work was to study the patient inspiratory airflow profile performance in large data sets. We analyzed how the Kamin-Haidl inhalation criteria were met by patients with DPIs such as Easyhaler for combination therapy (EH-combi), Easyhaler for monotherapy (EH-mono), Diskus, and Turbuhaler (TH), and applied peak lungpower instead of peak inspiratory flow rate as an indicator of patient performance. Materials and Methods: Data sets gathered in two previous studies for DPIs, that is, EH-combi, EH-mono, Diskus, and TH, were used to analyze how inspiratory lungpower representing inspiratory muscle power, flow acceleration, and volume after peak met the inhalation criteria. The measured patient airflow profiles through inhalers were assessed for patients with asthma or COPD. Results: Based on the Kamin-Haidl inhalation criteria, successful inhalation requirements were met with EH-combi in 96.1% and with EH-mono in 92.6% of patients. The success rates were 89.5% and 84.6% with Diskus and TH, respectively, (p <0.0001 between devices). In patients with asthma or COPD, the mean lungpower was 7.51 and 6.15 W for EH-combi, 8.79 and 6.88 W for EH-mono, 7.18 and 4.36 W for Diskus, and 9.65 and 6.86 W for TH, respectively, when patients followed the manufacturer's written instructions. Conclusions: Lungpower applied to the Kamin-Haidl inhalation criteria concept could be an applicable method for reviewing patient performance for different DPIs despite DPIs' characteristic differences in airflow resistance. In light of these results, DPIs provide a feasible treatment option for a large majority of respiratory patients.Peer reviewe
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