528 research outputs found

    Biodiversity and spatial ecology of arctic sponge grounds in the Nordic Seas

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    Sponge grounds are biogenic habitats formed by large structure-forming sponges in the deep-sea. They are biodiversity hotspots because they provide associated fauna a place of refuge, additional substratum, foraging areas, and can act as nursery grounds for many demersal fish. Sponge grounds have a global distribution, though there has been an increased focus in the North Atlantic in recent years due to the Horizon 2020 funded SponGES project. While there are a variety of sponge ground types based on their main sponge composition (monospecific and multispecific) or distribution (temperate, boreal, and arctic), there has been relatively little scientific focus on arctic sponge grounds, in terms of biodiversity, community ecology, and distribution. With potential imposing threats (e.g., climate change, bottom fishing, deep-sea mining) to arctic deep-sea communities such as arctic sponge grounds, there is a clear need to form a baseline understanding of these communities and their spatial ecology. The main aims of this thesis were to fill the current knowledge gaps of arctic sponge ground biodiversity and spatial ecology in the Nordic Seas. More specifically, this project aimed to: 1) describe the megafauna composition and diversity of arctic sponge grounds to improve on their current habitat classification; 2) examine biotic interactions occurring within the sponge grounds to evaluate the ecological services arctic sponge grounds provide; 3) investigate the spatial distribution of arctic sponge grounds and the characterising megafauna to identify how communities are distributed on a seascape and how megafauna are assembled within a habitat; and 4) explore the primary abiotic drivers that influence the distribution and community structure of arctic sponges grounds and their inhabitants in order to understand what conditions sponge grounds need to form and thrive. This thesis provides the first description of the oceanographic setting of Schulz Bank, a seamount on the Arctic Mid-Ocean Ridge used as a case study site for majority of the thesis and evaluates how the oceanographic conditions benefit the communities the seamount supports (Paper 1). The visual data collected from remotely operated vehicles (ROV) at various sites allowed us to test and refine annotation and statistical methodology that can be employed in future research for characterising benthic communities, exploring their distribution, and identifying their abiotic drivers (Papers 2–4). Furthermore, this thesis further highlights the potential of using AUVs for habitat mapping at small scales (<10 m) by identifying the fine-scale spatial patterns of arctic sponge ground fauna for the first time and visualizing how megafauna are assembled within their habitat (Paper 2). The work presented in the thesis forms a baseline understanding of the different types of arctic sponge grounds on Schulz Bank and builds on the limited scientific understanding of arctic sponge ground community and spatial ecology. Based on the results of this thesis, various new arctic megabenthic communities (biotopes), comprised of vulnerable marine ecosystem (VME) characterising taxa, were classified and are being proposed to the habitat classification system, European Nature Information System (EUNIS). These classifications can further improve habitat mapping and species distribution modelling capabilities of arctic megabenthic communities in the future. The extensive annotation of visual data identified key ecological roles that the sponge grounds provide to the associated megafauna, which can be further evaluated. Our work enhances the current understanding of abiotic drivers that influence arctic sponge ground distribution, although there is still a clear need to further build on this knowledge. Furthermore, our findings show that Schulz Bank is a prime candidate for protection due to its diverse and vulnerable communities, the ecological services the communities provide, and the relatively pristine condition the seamount is currently in. The work from this thesis has improved the understanding of sponge ground community and spatial ecology and developed tools and datasets that have been used in other work in the field. This thesis shows that arctic sponge grounds are important habitats in the Nordic Seas and highlights the need to form a baseline understanding of arctic benthic communities, especially in light of potential anthropogenic disturbances in the future.Svampebunner er biogene habitater dannet av store strukturdannende svamper i dyphavet. De har høyt biologisk mangfold fordi de gir tilhørende fauna et tilfluktssted, ekstra substrat, tilgang på mat og kan fungere som oppvekstområder for mange bunnfisk. Svampebunner har en global utbredelse, selv om det har vært et økt fokus i Nord-Atlanteren de siste årene på grunn av det forskningsprosjektet SpongES som var finansiert av EU-programmet Horisont2020. Selv om det finnes en rekke ulike svampebunner definert av sammensetningen av store svamper (monospesifikke og multispesifikke) eller utbredelsen (tempererte, boreale og arktiske), har det vært relativt lite vitenskapelig fokus på arktiske svampebunner når det gjelder biologisk mangfold, samfunnsøkologi, og distribusjon. Med potensielle fremtidige trusler (f.eks. klimaendringer, bunnfiske, dyphavsgruvedrift) mot arktiske dyphavssamfunn som svampebunner, er det et klart behov for å øke den grunnleggende forståelsen av disse samfunnene og deres romlige økologi. Hovedmålene med denne oppgaven var å fylle kunnskapshull om biologisk mangfold i arktisk svampebunn og romlig økologi i de nordiske hav. Mer spesifikt hadde dette prosjektet som mål å: 1) beskrive megafaunasammensetningen og mangfoldet av arktiske svampebunner for å forbedre deres nåværende habitatklassifisering; 2) undersøke biotiske interaksjoner som forekommer innenfor svampebunnene for å evaluere de økologiske tjenestene arktiske svampebunner tilbyr; 3) undersøke den romlige fordelingen av arktiske svampebunner og den karakteristiske megafaunaen for å identifisere hvordan samfunnet er fordelt på havbunnen og hvordan megafauna er utbredt innenfor habitatet; og 4) utforske de primære abiotiske drivkreftene som påvirker utbredelsen og samfunnsstrukturen til arktiske svampebunner og deres innbyggere for å forstå hvilke forhold svampebunner trenger for å dannes og trives. Denne oppgaven gir den første beskrivelsen av de oseanografiske forholdene ved Schulzbanken, et undersjøisk fjell på den arktiske midthavsryggen som er studieområdet for størstedelen av oppgaven, og evaluerer hvordan de oseanografiske forholdene er til nytte for samfunnene undersjøisk fjellet støtter (artikkel 1). De visuelle dataene samlet inn fra remotely operated vehicles (ROV) på forskjellige steder gjorde det mulig å teste og raffinere annotering og statistisk metodikk som kan brukes i fremtidig forskning for å karakterisere bunndyrsamfunn, utforske deres utbredelse og identifisere deres abiotiske drivere (artikkel 2–4). Videre fremhever denne oppgaven potensialet ved å bruke AUV-er for habitatkartlegging i liten skala (<10 m) ved å identifisere de finskala romlige mønstrene til arktisk svampebunnfauna for første gang, og visualisere hvordan megafauna er satt sammen i deres habitat (artikkel 2). Arbeidet som presenteres i avhandlingen danner en grunnleggende forståelse av de forskjellige typene av arktiske svampebunner på Schulzbanken og utvider den begrensede vitenskapelige forståelsen av arktisk svampebunnsamfunn og romlig økologi. Basert på resultatene av denne avhandlingen, ble ulike nye arktiske megabentiske samfunn (biotoper), som består av dyregrupper som karakteriserer Vulnerable Marine Ecosystems (VMEer), klassifisert og foreslått til habitatklassifiseringssystemet, European Nature Information System (EUNIS). Disse klassifiseringene kan ytterligere forbedre habitatkartlegging og artsfordelingsmodelleringsevner for arktiske megabentiske samfunn i fremtiden. Den omfattende annoteringen av visuelle data identifiserte viktige økologiske roller som svampebunnene har for den tilhørende megafaunaen. Avhandlingen forbedrer den nåværende forståelsen av abiotiske drivere som påvirker arktisk svampebunnfordeling, selv om det fortsatt er et klart behov for å bygge videre på denne kunnskapen. Videre viser funnene våre at Schulzbanken er en førsteklasses kandidat for beskyttelse på grunn av dets mangfoldige og sårbare samfunn, de økologiske tjenestene samfunnene leverer, og den relativt uberørte tilstanden havfjellet er i. Arbeidet i denne avhandlingen har forbedret forståelsen av svampebunnssamfunn og romlig økologi og utviklet verktøy og datasett som har vært brukt i annet arbeid på feltet. Denne oppgaven viser at arktiske svampebunner er viktige habitater i de nordiske hav og fremhever behovet for å danne en grunnleggende forståelse av arktiske bunndyrsamfunn, spesielt i lys av potensielle menneskeskapte forstyrrelser i fremtiden.Doktorgradsavhandlin

    Coherent and statistical phase control and measurements of time-dependent quantum dynamics

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    In this work the importance of phases in time-resolved spectroscopy is investigated in two respects. At first, the influence of the phase of a system’s dipole response after excitation is studied. Previous transient-absorption experiments in helium allowed the measurement and control of this phase of an emitting dipole by a second, coupling laser pulse. The derived concept is now generalized to a more complex system, i.e. a dye molecule in the liquid phase. For this purpose, a setup for transient-absorption measurements with femtosecond infrared laser pulses is developed and assembled and numerical simulations support the interpretation of the experimental results. It was found that only specific excited states couple strongly to the laser field. While the foregoing experiments rely on the full coherence of laser pulses, the second part of this work addresses the impact of partially coherent phases of laser pulses. Pump–probe experiments in gaseous deuterium molecules applied statistically fluctuating pulses delivered by a Free-Electron Laser source. These measurements revealed an enhanced temporal resolution on time scales shorter than the average pulse duration. For the description and explanation of the observations a novel approach is developed which is based on the correlation of temporally random substructures of the pulses. In order to realize noisy pulses in the laboratory, a pulse shaper is designed and built up which is capable to modify the spectral phase of the laser pulses. Thereby, this developed general method is transferred to transient-absorption measurements in the liquid phase and its universal applicability is demonstrated. _________________________________________ Readers may view, browse, and/or download material for temporary copying purposes only, provided these uses are for noncommercial personal purposes. Except as provided by law, this material may not be further reproduced, distributed, transmitted, modified, adapted, performed, displayed, published, or sold in whole or part, without prior written permission from the American Physical Society

    Lorentz meets Fano spectral line shapes: A universal phase and its laser control

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    Symmetric Lorentzian and asymmetric Fano line shapes are fundamental spectroscopic signatures that quantify the structural and dynamical properties of nuclei, atoms, molecules, and solids. This study introduces a universal temporal-phase formalism, mapping the Fano asymmetry parameter q to a phase {\phi} of the time-dependent dipole-response function. The formalism is confirmed experimentally by laser-transforming Fano absorption lines of autoionizing helium into Lorentzian lines after attosecond-pulsed excitation. We also prove the inverse, the transformation of a naturally Lorentzian line into a Fano profile. A further application of this formalism amplifies resonantly interacting extreme-ultraviolet light by quantum-phase control. The quantum phase of excited states and its response to interactions can thus be extracted from line-shape analysis, with scientific applications in many branches of spectroscopy.Comment: 11 pages, 4 figure

    Trennungs- und Scheidungskindergruppen in der Erziehungs- und Familienberatung. Grundlagen - Konzeption - Evaluation

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    Jedes dritte Kind in Deutschland ist derzeit von der Trennung und Scheidung seiner Eltern betroffen. Die Bewältigung von Trennung und Scheidung ist für Kinder und Eltern in der Regel eine hohe Belastung. Von Trennung und Scheidung betroffene Kinder bilden den Hauptanteil der Klientel in Erziehungs- und Familienberatungsstellen. Vor diesem Hintergrund wird die Relevanz von Interventionen für diese Zielgruppe deutlich. Im ersten Teil dieser Arbeit werden Grundlagen zu Trennungs- und Scheidungsforschung, Erziehungs- und Familienberatung, Kindergruppen sowie Evaluation zusammengefasst. Im zweiten Teil erfolgt die Beschreibung einer Konzeption zur Durchführung von Trennungs- und Scheidungskindergruppen, die auf der Basis der Konzeptionen von Fthenakis et al. (1995) und Jaede, Wolf und Zeller-König (1996) entstanden ist. Der dritte Teil umfasst eine qualitative, kindzentrierte Evaluation von drei Gruppen, die nach dem beschriebenen Konzept durchgeführt wurden. Ziel der Evaluation ist das Erleben und Bewerten der Teilenehmenden zu erheben, herauszustellen, ob die mit der Intervention intendierten Ziele aus Sicht der Teilnehmenden erreicht werden und welche Konzeptionsbausteine bei einer erneuten Durchführung verändert werden sollten

    Barriers to disaster preparedness among medical special needs populations

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    A medical special needs (MSN) assessment was conducted among 3088 respondents in a hurricane prone area. The sample was female (51.7%), Hispanic (92.9%), aged \u3e45 years (51%), not insured for health (59.2%), and with an MSN (33.2%). Barriers to preparedness were characterized for all households, including those with inhabitants reporting MSN ranging from level 0 (mild) to level 4 (most severe). Multivariable logistic regression tested associations between hurricane preparedness and barriers to evacuation by level of MSN. A significant interaction effect between number of evacuation barriers and MSN was found. Among households that reported individuals with level 0 MSN, the odds of being unprepared increased 18% for each additional evacuation barrier [OR = 1.18, 95% CI (1.08, 1.30)]. Among households that reported individuals with level 1 MSN, the odds of being unprepared increased 29% for each additional evacuation barrier [OR = 1.29, 95% CI (1.11, 1.51)]. Among households that reported individuals with level 3 MSN, the odds of being unprepared increased 68% for each additional evacuation barrier [OR = 1.68, 95% CI (1.21, 1.32)]. MSN alone did not explain the probability of unpreparedness, but rather MSN in the presence of barriers helped explain unpreparedness

    Et spørsmål om kompetanse. En diskursanalyse av avisartikler om kompetanse i barnevernet.

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    Artikkelen omhandler hvordan barnevernets kompetanse er omtalt i media. Artikkelen bygger på en diskursanalyse av avisartikler fra nordnorske aviser. Avisartiklene ble analysert med utgangspunkt i Laclau og Mouffes begrepsapparat. Nøkkelord: barnevern, media, kompetanse, diskursanalys

    Systematic review about data quality and protocol compliance in clinical trials

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    Bei Investigator Initiated Trials (IITs) werden alternative risikoadaptierte Monitoring-Strategien in Abhängigkeit vom individuellen Studiendesign und dem Risikoprofil diskutiert, um bei oft restriktiven Ressourcen eine den gesetzlichen Vorgaben genügende Qualität der Studiendurchführung und der Daten zu gewährleisten. Aufgrund einer Literaturanalyse sollten in der vorliegenden Arbeit Untersuchungen ausgewertet werden, in denen quantitative Aussagen zu Datenqualität und Prüfplan-Compliance in klinischen Prüfungen gemacht wurden. Bei der Interpretation der Ergebnisse sollten die implementierten Qualitätssicherungsmaßnahmen berücksichtigt werden. Aufgrund einer systematischen Recherche in MEDLINE konnten 21 Publikationen identifiziert werden, bei denen die Daten- und Prozessqualität in klinischen Prüfungen untersucht, die Qualität durch Überprüfungen mit Source Data Verification vor Ort oder Überprüfung übermittelter Quelldaten in der Studienzentrale ermittelt wurde und quantitative Informationen zu den Bereichen Datenqualität, Protokoll-Compliance oder Defizite bei Einwilligungserklärungen vorlagen. Die Mehrzahl der Untersuchungen ist drei Organisationen zuzuordnen: European Organization für Research and Treatment of Cancer (EORTC) (n=7), National Cancer Institute (NCI) (n=7) und Untersuchungen der Trans-Tasman Radiation Oncology Group (TROG) (n=4). Darüber hinaus wurden drei Untersuchungen weiterer Studiengruppen identifiziert. Die Untersuchungen wurden im Zeitraum von 1981 bis 2003 publiziert. Überwiegend wurden in der Literatur onkologische Studien betrachtet (n=19), wobei die Radiotherapie im Vordergrund stand (n=8). Für die EORTC-Studien wurde in der Regel eine gute Datenqualität berichtet (80-90% korrekte Daten). Punktuelle Probleme wurden im Hinblick auf die Protokoll-Compliance und das Berichten von Nebenwirkungen/schwerwiegenden unerwünschten Ereignissen festgestellt. Eine gute Qualität wurde ebenfalls bzgl. des korrekten Einschlusses von Patienten beobachtet. Durch das NCI wurde ein standardisiertes Audit-System eingeführt und innerhalb von kooperativen Studiengruppen implementiert. Im Rahmen dieser Audits wurden verschiedene Kriterien überprüft und eine überwiegend gute Datenqualität und Protokoll-Compliance festgestellt. Mängel wurden in ca. 5% der Fälle im Hinblick auf die Einwilligungserklärung, die korrekte Anwendung der Einschlusskriterien, Protokollverletzungen, bei der Ermittlung des Zielkriteriums, der Erfassung der Toxizität, der adäquaten Datenlieferung und bei der Datenverifikation beobachtet. In einzelnen Untersuchungen ergaben sich Probleme mit der Behandlungscompliance (10-20%), bei Protokollabweichungen im Hinblick auf die Arzneimitteldosis (10%) und bei der Drug Accountability (15%). Von der TROG wurde ein Qualitätssicherungsprozess implementiert, der auf zentralem Monitoring von kopierten Quelldaten basiert. Durch den Qualitätssicherungsansatz der TROG konnten schwerwiegende Probleme mit der Protokoll-Compliance unter 10% gesenkt werden, ebenso konnte eine gute Datenqualität mit einer Fehlerrate unter 5% erreicht werden. Die korrekte Handhabung von Ein- und Ausschlusskriterien stellte in Einzelfällen ein Problem dar. Zusammenfassend kann festgestellt werden, dass die in dem Review erfassten Studiengruppen von einer guten Datenqualität und einer guten bis moderaten Protokoll-Compliance berichten. Diese basiert nach Aussage der Autoren im wesentlichen auf etablierten Qualitätssicherungs-Prozeduren, wobei das durchgeführte Audit ebenfalls einen potentiellen Einflussfaktor darstellt. Geringe Probleme wurden in der Regel im Hinblick auf die Einwilligungserklärung, die korrekte Handhabung der Ein- und Ausschlusskriterien und die Datenqualität beobachtet. In einzelnen Studien gab es jedoch Probleme mit der Protokoll-Compliance. Insgesamt hängen Anzahl und Art der Mängel von dem Studientyp, dem Qualitätsmanagement und der Organisation der Studiengruppe ab. Wissenschaftsbetrug wurde nur in sehr wenigen Fällen durch die Audits festgestellt. Die vorgelegten Informationen beziehen sich nahezu ausschließlich auf etablierte Studiengruppen; bezüglich Datenqualität und Protokoll-Compliance außerhalb der Studiengruppen liegen kaum Informationen in der Literatur vor. Bei der Bewertung der Ergebnisse sollte berücksichtigt werden, dass es sich zum Teil um Eigenauswertungen der Studiengruppen und nicht um unabhängige externe Prüfungen (z.B. externe Audits) handelt. Inwieweit die Ergebnisse einer konsequenten Überprüfung nach derzeitigen Good Clinical Practice (GCP) – Regeln standhalten würden, kann aus der Analyse nicht beantwortet werden. Aus der vorliegenden Literaturanalyse ergeben sich Konsequenzen für die Planung einer prospektiven kontrollierten Studie zum Vergleich unterschiedlicher Monitoring-Strategien. Wesentlicher Einflussfaktor für die Datenqualität und Protokollcompliance in einer klinischen Studie ist das Qualitätsmanagement. Dieses Qualitätsmanagement umfasst neben Monitoring zahlreiche andere Maßnahmen. Um zu einer Bewertung von Monitoringstrategien kommen zu können, müssen daher alle Qualitätssicherungsmaßnahmen im Rahmen einer Studie berücksichtigt werden. Für den Vergleich unterschiedlicher Monitoringstrategien sind geeignete Zielparameter zu definieren (z.B. schwerwiegende Defizite bzgl. Ein- und Ausschlusskriterien, Sicherheit). Die vorliegende Analyse ergibt, dass bei gutem Qualitätsmanagement ohne umfassendes vor Ort Monitoring schwerwiegende Fehler nur mit relativ niedriger Häufigkeit festgestellt wurden. Unterschiede zwischen Monitoringstrategien könnten, gegeben ein funktionierendes Qualitätsmanagementssystem, sich als quantitativ gering erweisen. Testet man auf Äquivalenz von Monitoringstrategien, sind nur niedrige Differenzen zu akzeptieren, was wiederum eine Auswirkung auf die Fallzahlplanung hat. Weiterhin muss berücksichtigt werden, dass zur Feststellung der Auswirkung unterschiedlicher Monitoringstrategien auf die Sicherheit der Patienten und die Validität der Daten im Rahmen einer kontrollierten Untersuchung ein unabhängiges Audit notwendig ist. Dabei ist zu berücksichtigen, dass ein Audit bereits einen möglichen Einflussfaktor für die Datenqualität und Protokoll-Compliance darstellen kann, und damit eine Bewertung des Nutzens einer Monitoringstrategie erschwert werden könnte. Schlüsselwörter: systematisches Review, Datenqualität, Protokoll-Compliance, klinische StudieFor Investigator Initiated Trials (IITs) alternative risk-adapted monitoring strategies are discussed in order to fulfill rules and regulations, taking into consideration the restricted resources. In this systematic review investigations, presenting quantitative data about data quality and protocol compliance in clinical trials, are analyzed. The results are discussed taking into account the quality assurance procedures implemented. Based on a systematic MEDLINE retrieval, 21 studies could be identified in which data and process quality in clinical trials were investigated and assessed by site visits with source data verification or review of copied source data in the study center and quantitative information about data quality and protocol compliance was available. The majority of investigations were performed by three organizations: European Organization for Research and Treatment of Cancer (EORTC) (n=7), National Cancer Institute (NCI) (n=7) and investigations of the Trans-Tasman Radiation Oncology Group (TROG) (n=4). In addition three investigations of other study groups were identified. The investigations were published between 1981 and 2003. In the majority of cases oncological trials were investigated (n=19) with a focus on radiotherapy trials (n=8). In the EORTC-trials an overall good data quality was assessed (80–90% correct data). Singular problems were found with respect to protocol compliance and reporting of adverse reactions and serious unexpected events. Good quality was also observed with respect to the correct inclusion of patients into trials. By the NCI a standardized audit system was introduced and implemented within cooperative study groups. In the context of these audits different criteria were assessed and a good data quality and protocol compliance were measured. Deficits occurred in about 5% of the cases with respect to informed consent, correct application of inclusion criteria, protocol compliance, assessment of outcome criteria, assessment of toxicity, adequate data reporting and data verification. In some investigations problems with treatment compliance (10-20%), drug dose deviations (10%) and drug accountability (15%) were identified. By the TROG a quality assurance procedure was implemented, based on central monitoring of copied source data. By this approach major problems with protocol compliance could be reduced to less than 10% together with a good data quality with an error rate under 5%. The correct handling of in- and exclusion criteria was a problem in individual cases. In summary we found out that good data quality and good to moderate protocol compliance were reported by the study groups that are included in the systematic review. Due to the authors this is mainly due to an established quality assurance system, taking into consideration that audits itself may be an influential factor. Generally, minor problems were observed with respect to informed consent, correct handling of in- and exclusion criteria and data quality, however, in some studies there were problems with protocol compliance. Overall, number and type of deficits depend on study type, quality management and organization of the study group. Fraud was detected only in very few cases. The available evidence refers mainly to established study groups; for data quality and protocol compliance outside these groups only few information is available. However, it should be taken into consideration, that the analysis was performed, at least partly, by the study groups themselves and is not based on independent audits (e.g. external audits). The analysis cannot answer the question whether the results would have been replicable if a strict review according to criteria of Good Clinical Practice (GCP) would have been performed. From the systematic review consequences have to be taken for planning a prospective controlled trial comparing different monitoring strategies. The main influence factor for data quality and protocol compliance in a clinical trial is the quality management system. Quality management covers several other measures apart from monitoring. In order to assess monitoring strategies, all quality assurance procedures within a clinical trial have to be taken into consideration. For the comparison of different monitoring strategies adequate outcome parameter have to be defined (e.g. severe deficits with respect to inclusion and exclusion criteria, safety). The analysis indicates that with good quality management and no extensive on-site monitoring severe errors were detected only at relative low frequency. It could well be that with an efficient quality management system differences between monitoring strategies would be small. In order to demonstrate statistical equivalence of monitoring strategies, only small differences can be accepted which again leads to consequences for the sample-size calculation. In addition, it must be taken into consideration that within a controlled trial an independent audit is necessary to assess the effect of different monitoring strategies on the safety of patients and the quality of data. Audits however may be a possible influence factor for data quality and protocol compliance and may complicate the evaluation of the benefit of a monitoring strategy. Keywords: systematic review, data quality, protocol compliance, clinical tria

    Insulin gene polymorphisms in type I diabetes, Addison's disease and the polyglandular autoimmune syndrome type II

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    Background: Polymorphisms within the insulin gene can influence insulin expression in the pancreas and especially in the thymus, where self-antigens are processed, shaping the T cell repertoire into selftolerance, a process that protects from ß-cell autoimmunity. Methods: We investigated the role of the -2221Msp(C/T) and -23HphI(A/T) polymorphisms within the insulin gene in patients with a monoglandular autoimmune endocrine disease [patients with isolated type 1 diabetes (T1D, n = 317), Addison´s disease (AD, n = 107) or Hashimoto´s thyroiditis (HT, n = 61)], those with a polyglandular autoimmune syndrome type II (combination of T1D and/or AD with HT or GD, n = 62) as well as in healthy controls (HC, n = 275). Results: T1D patients carried significantly more often the homozygous genotype "CC" -2221Msp(C/T) and "AA" -23HphI(A/T) polymorphisms than the HC (78.5% vs. 66.2%, p = 0.0027 and 75.4% vs. 52.4%, p = 3.7 × 10-8, respectively). The distribution of insulin gene polymorphisms did not show significant differences between patients with AD, HT, or APS-II and HC. Conclusion: We demonstrate that the allele "C" of the -2221Msp(C/T) and "A" -23HphI(A/T) insulin gene polymorphisms confer susceptibility to T1D but not to isolated AD, HT or as a part of the APS-II
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