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  • 1
    In: JAMA Dermatology, American Medical Association (AMA), Vol. 159, No. 8 ( 2023-08-01), p. 837-
    Abstract: Systemic sclerosis (SSc) sine scleroderma (ssSSc) is a subset of SSc defined by the absence of skin fibrosis. Little is known about the natural history and skin manifestations among patients with ssSSc. Objective To characterize the clinical phenotype of patients with ssSSc compared with patients with limited cutaneous SSc (lcSSc) and diffuse cutaneous SSc (dcSSc) within the EUSTAR database. Design, Setting, and Participants This longitudinal observational cohort study based on the international EUSTAR database included all patients fulfilling the classification criteria for SSc assessed by the modified Rodnan Skin score (mRSS) at inclusion and with at least 1 follow-up visit; ssSSc was defined by the absence of skin fibrosis (mRSS = 0 and no sclerodactyly) at all available visits. Data extraction was performed in November 2020, and data analysis was performed from April 2021 to April 2023. Main Outcomes and Measures Main outcomes were survival and skin manifestations (onset of skin fibrosis, digital ulcers, telangiectasias, puffy fingers). Results Among the 4263 patients fulfilling the inclusion criteria, 376 (8.8%) were classified as having ssSSc (mean [SD] age, 55.3 [13.9] years; 345 [91.8%] were female). At last available visit, in comparison with 708 patients with lcSSc and 708 patients with dcSSc with the same disease duration, patients with ssSSc had a lower prevalence of previous or current digital ulcers (28.2% vs 53.1% in lcSSc; P   & amp;lt; .001; and 68.3% in dcSSc; P   & amp;lt; .001) and puffy fingers (63.8% vs 82.4% in lcSSc; P   & amp;lt; .001; and 87.6% in dcSSc; P   & amp;lt; .001). By contrast, the prevalence of interstitial lung disease was similar in ssSSc and lcSSc (49.8% and 57.1%; P  = .03) but significantly higher in dcSSc (75.0%; P   & amp;lt; .001). Skin telangiectasias were associated with diastolic dysfunction in patients with ssSSc (odds ratio, 4.778; 95% CI, 2.060-11.081; P   & amp;lt; .001). The only independent factor for the onset of skin fibrosis in ssSSc was the positivity for anti–Scl-70 antibodies (odds ratio, 3.078; 95% CI, 1.227-7.725; P  = .02). Survival rate was higher in patients with ssSSc (92.4%) compared with lcSSc (69.4%; P  = .06) and dcSSc (55.5%; P   & amp;lt; .001) after up to 15 years of follow-up. Conclusions and Relevance Systemic sclerosis sine scleroderma should not be neglected considering the high prevalence of interstitial lung disease ( & amp;gt;40%) and SSc renal crisis (almost 3%). Patients with ssSSc had a higher survival than other subsets. Dermatologists should be aware that cutaneous findings in this subgroup may be associated with internal organ dysfunction. In particular, skin telangiectasias in ssSSc were associated with diastolic heart dysfunction.
    Type of Medium: Online Resource
    ISSN: 2168-6068
    Language: English
    Publisher: American Medical Association (AMA)
    Publication Date: 2023
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  • 2
    In: Journal of Clinical Microbiology, American Society for Microbiology, Vol. 60, No. 1 ( 2022-01-19)
    Abstract: This first pilot trial on external quality assessment (EQA) of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) whole-genome sequencing, initiated by the European Society of Clinical Microbiology and Infectious Diseases (ESCMID) Study Group for Genomic and Molecular Diagnostics (ESGMD) and the Swiss Society for Microbiology (SSM), aims to build a framework between laboratories in order to improve pathogen surveillance sequencing. Ten samples with various viral loads were sent out to 15 clinical laboratories that had free choice of sequencing methods and bioinformatic analyses. The key aspects on which the individual centers were compared were the identification of (i) single nucleotide polymorphisms (SNPs) and indels, (ii) Pango lineages, and (iii) clusters between samples. The participating laboratories used a wide array of methods and analysis pipelines. Most were able to generate whole genomes for all samples. Genomes were sequenced to various depths (up to a 100-fold difference across centers). There was a very good consensus regarding the majority of reporting criteria, but there were a few discrepancies in lineage and cluster assignments. Additionally, there were inconsistencies in variant calling. The main reasons for discrepancies were missing data, bioinformatic choices, and interpretation of data. The pilot EQA was overall a success. It was able to show the high quality of participating laboratories and provide valuable feedback in cases where problems occurred, thereby improving the sequencing setup of laboratories. A larger follow-up EQA should, however, improve on defining the variables and format of the report. Additionally, contamination and/or minority variants should be a further aspect of assessment.
    Type of Medium: Online Resource
    ISSN: 0095-1137 , 1098-660X
    RVK:
    Language: English
    Publisher: American Society for Microbiology
    Publication Date: 2022
    detail.hit.zdb_id: 1498353-9
    SSG: 12
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  • 3
    In: Rheumatology, Oxford University Press (OUP), Vol. 62, No. 6 ( 2023-06-01), p. 2178-2188
    Abstract: The prevalence and characteristics of SSc-associated interstitial lung disease (SSc-ILD) vary between geographical regions worldwide. The objectives of this study were to explore the differences in terms of prevalence, phenotype, treatment and prognosis in patients with SSc-ILD from predetermined geographical regions in the EUSTAR database. Material and methods Patients were clustered into seven geographical regions. Clinical characteristics and survival of patients with SSc-ILD were compared among these pre-determined regions. Results For baseline analyses, 9260 SSc patients were included, with 6732 for survival analyses. The prevalence of SSc-ILD in the overall population was 50.2%, ranging from 44.0% in ‘Western Europe and Nordic countries’ to 67.5% in ‘Eastern European, Russia and Baltic countries’. In all regions, anti-topoisomerase antibodies were associated with SSc-ILD. Management also significantly differed; mycophenolate mofetil was prescribed at baseline in 31.6% of patients with SSc-ILD in ‘America (North and South)’ and 31.7% in ‘Middle East’ but only 4.3% in ‘Asia and Oceania’ (P  & lt;0.0001). Patients from ‘America (North and South)’ and ‘Middle East’ had the highest survival rate at the end of follow-up (85.8% and 85.2%, respectively). Conclusions Our study highlights key differences among regions in terms of clinical presentation and prognosis of SSc-ILD. This work also demonstrates that the management of SSc-ILD is highly variable among the different regions considered, suggesting that efforts are still needed for the standardization of medical practice in the treatment of this disease.
    Type of Medium: Online Resource
    ISSN: 1462-0324 , 1462-0332
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2023
    detail.hit.zdb_id: 1474143-X
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  • 4
    Online Resource
    Online Resource
    Hogrefe Publishing Group ; 2018
    In:  Praxis Vol. 107, No. 24 ( 2018-11), p. 1345-1353
    In: Praxis, Hogrefe Publishing Group, Vol. 107, No. 24 ( 2018-11), p. 1345-1353
    Abstract: Zusammenfassung. Bei der Familiären Hypercholesterinämie (FH) führen heterozygote Mutationen des LDL-Rezeptor-, Apolipoprotein B- oder PCSK9-Gens zu einer zwei- bis dreifachen Erhöhung des LDL-Cholesterins und in der Folge einer frühzeitigen Atherosklerose. Der klinische Phänotyp der FH kann auch entstehen, wenn eine Person Träger mehrerer Genpolymorphismen ist, die in der Summe zu einer ausgeprägten Cholesterinerhöhung führen (polygene FH). Durch eine primärpräventive Therapie mit Statinen wird das kardiovaskuläre Risiko erheblich gesenkt. Allerdings sind in der Schweiz 〈 10 % der von dieser häufigen Erkrankung (Prävalenz 1:250) Betroffenen diagnostiziert und behandelt, sodass ein kardiovaskuläres Ereignis oft die Erstmanifestation darstellt. Eine korrekte Diagnosestellung und nachfolgende Familienuntersuchung sind die Voraussetzung, um möglichst viele Erkrankte zu identifizieren und präventiv mit Statinen zu behandeln. Falls die FH bereits zu einem kardiovaskulären Ereignis geführt hat, kann durch eine lipidsenkende Kombinationstherapie mit Statinen, Ezetimibe und PCSK9-Hemmern eine effiziente LDL-Cholesterinsenkung erreicht und die Prognose verbessert werden.
    Type of Medium: Online Resource
    ISSN: 1661-8157 , 1661-8165
    Language: German
    Publisher: Hogrefe Publishing Group
    Publication Date: 2018
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  • 5
    In: Microorganisms, MDPI AG, Vol. 9, No. 4 ( 2021-03-25), p. 677-
    Abstract: The rapid spread of the SARS-CoV-2 lineages B.1.1.7 (N501Y.V1) throughout the UK, B.1.351 (N501Y.V2) in South Africa, and P.1 (B.1.1.28.1; N501Y.V3) in Brazil has led to the definition of variants of concern (VoCs) and recommendations for lineage specific surveillance. In Switzerland, during the last weeks of December 2020, we established a nationwide screening protocol across multiple laboratories, focusing first on epidemiological and microbiological definitions. In January 2021, we validated and implemented an N501Y-specific PCR to rapidly screen for VoCs, which are then confirmed using amplicon sequencing or whole genome sequencing (WGS). A total of 13,387 VoCs have been identified since the detection of the first Swiss case in October 2020, with 4194 being B.1.1.7, 172 B.1.351, and 7 P.1. The remaining 9014 cases of VoCs have been described without further lineage specification. Overall, all diagnostic centers reported a rapid increase of the percentage of detected VOCs, with a range of 6 to 46% between 25 to 31 of January 2021 increasing towards 41 to 82% between 22 to 28 of February. A total of 739 N501Y positive genomes were analysed and show a broad range of introduction events to Switzerland. In this paper, we describe the nationwide coordination and implementation process across laboratories, public health institutions, and researchers, the first results of our N501Y-specific variant screening, and the phylogenetic analysis of all available WGS data in Switzerland, that together identified the early introduction events and subsequent community spreading of the VoCs.
    Type of Medium: Online Resource
    ISSN: 2076-2607
    Language: English
    Publisher: MDPI AG
    Publication Date: 2021
    detail.hit.zdb_id: 2720891-6
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  • 6
    Online Resource
    Online Resource
    Springer Science and Business Media LLC ; 2023
    In:  Die Anaesthesiologie Vol. 72, No. 8 ( 2023-08), p. 565-572
    In: Die Anaesthesiologie, Springer Science and Business Media LLC, Vol. 72, No. 8 ( 2023-08), p. 565-572
    Abstract: Traditional fasting rules for children prior to elective operations (“6‑4‑2 rule”) often lead to prolonged fasting times with possible adverse events (discomfort, hypoglycemia, metabolic disorders, agitation/delirium). A new liberal fasting policy allowing children to drink clear fluids until being called to the operating room (“6‑4‑0”) was established in our university hospital. This article describes our experiences and retrospectively examines the effects. Objective Evaluation of real fasting times before and up to 6 months after the intervention (success and durability of changing fasting policy). Evaluation of impact on outcome parameters, such as patients’ resp. parents’ satisfaction as well as perioperative agitation, arterial hypotension after induction and postoperative nausea and vomiting (PONV). Material and methods Retrospective evaluation of methods and interventions from 1 month before to 6 months after changing the fasting policy (June–December 2020). Statistical analysis using descriptive statistics, odds ratio and χ 2 -test. Results Of 216 analyzed patients 44 were in the pre-change group and 172 in the post-change group. We could significantly reduce clear fluids fasting times over the 6 months after the intervention (median fasting time: from 6.1 h to 4.5 h; p  = 0.034) and achieve our aim (fasting time for clear fluids less than or equal to 2h) in 47% of the patients. Fasting times became longer again reaching pre-change intervals in the 4th and 5th month, so reminder measures turned out to be necessary. By reminding the staff we could reduce fasting times again in the 6th month and restore patients’ resp. parents’ satisfaction. Satisfaction was improved by shorter fasting times (median school grade from 2.8 to 2.2; p  = 0.004; odds ratio for better satisfaction 5.24, 2.1–13.2), and preoperative agitation was reduced (agitation modified PAED scale 1–2 in only 34.5% instead of 50%, p  = 0.032). In the liberal fasting group, we observed a nonsignificant smaller incidence of hypotension after induction (7% vs. 14%, p  = 0.26) while PONV was too rare in both groups for statistical purposes. Conclusion With multiple interventions we could significantly reduce fasting times for clear fluids and improve patients’ resp. parents’ satisfaction as well as preoperative agitation. These interventions included regular presence in all staff meetings, a handout for both parents and staff, as well as a remark on the anesthesia protocol. Children who were operated on later in the day, benefited most from the new liberal fasting policy as they were allowed to drink until being called to the operating room. Following our experience, we consider simple and safe fasting rules for the whole staff as most important for change management. Nevertheless, we could not reduce the fasting intervals in all cases and had to remind the staff after 5 months to preserve this success. For enduring success, we suggest regular staff updates during the change process instead of one single kick-off information event.
    Type of Medium: Online Resource
    ISSN: 2731-6858 , 2731-6866
    Language: German
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2023
    detail.hit.zdb_id: 3122926-8
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