Landscape plan of lake Cerknica area

Cerkniško jezero je del Notranjskega regijskega parka, širšega zavarovanega območja. Varstvo narave in naravnih virov v teh območjih je mogoče zagotavljati le s celostno obravnavo in z usklajevanjem varstvenih in razvojnih interesov v okviru prostorskega načrtovanja. V magistrskem delu so na podlagi pregleda varstvenih režimov in prostorskih analiz podani predlog krajinske ureditve, izhodišča za opredelitev prioritetnih območij razvoja in varstva ter smernice zanje. Magistrsko delo izpostavlja potrebo po ureditvi infrastrukture za obiskovalce, ki hkrati omogoča ohranjanje narave. Območje Cerkniškega jezera zaradi neurejenosti infrastrukture predstavlja tako neizkoriščen potencial, kot tudi problem zaradi nenadzorovanega obiska. Predlog temelji na urejanju že obstoječe infrastrukture z namenom razvoja naravoslovnega turizma in pasivne rekreacije. Poudarjena sta zadržan pristop k umeščanju fizičnih elementov v prostor in podrejanje naravnim procesom. Krajinska in biotska pestrost ter spremenljivost pomenita visok potencial za doživljanje narave na obravnavanem območju . V magistrskem delu je interpretacija predstavljena kot orodje za upravljanje zavarovanega območja. Na podlagi tega je oblikovana idejna zasnova interpretativne poti. Z označevanjem točk, na katerih je prepoznan visok potencial za doživljanje in izobraževanje, obiskovalce vodi po prostoru. Na ta način pot predstavi območje in usmerja obisk.The Cerknica lake is a part of a wide protected area, the Notranjska regional park. For such an area, spatial planning with the coordination of conservation and developmental interests is vital. The lack of a comprehensive handling of the area through partial spatial interventions leads to a degradation of nature. The thesis offers a proposal of a landscape design on the basis of a research of conservation regimes and spatial analyses. It provides a starting point for defining priority areas of development and conservation and offers guidelines. The theoretical part offers a proposition for the development planning of the Cerknica lake area, designed according to the identifiable spatial limitations and potentials. With poor infrastructure the area represents unexploited potential, as well as a problem due to uncontrolled visitation. The development is based on the design of the existing infrastructure with the intention of developing nature tourism and passive recreation. The emphasis is put on a reserved approach towards the installment of physical elements into the area and submitting to natural processes. The high potential for the nature experience in the area is recognized in its landscape and biotic diversity and variability. The thesis presents the interpretation as a tool for the management of the protected area, on the basis of which the outline planning scheme of the interpretative path is formed. The visitors are guided through the area by marked points where the potential for nature experience and education has been recognized. This way the path provides a presentation of the area and a guided visit

Klinisches Erscheinungsbild und funktionelle Charakterisierung eines Patienten mit einer heterozygoten Exon 6 Deletion im IGF1R

Hintergrund: Der Insulin-like growth factor receptor (IGF1R) spielt eine zentrale Rolle bei Wachstumsprozessen. Heterozygote IGF1R-Mutationen führen durch eine partielle IGF1-Resistenz zu Kleinwuchs. Methoden: Auxologische und endokrinologische Daten des Patienten wurden erhoben. Anhand von Fibroblasten wurde die IGF1R-Deletion charakterisiert und die Auswirkungen auf die mRNA- und Protein-Expression sowie die Signaltransduktion untersucht. Ergebnisse: Der Junge, der eine heterozygote Exon 6 Deletion im IGF1R – durch Alu-Rekombination verursacht – und eine heterozygote SHOX-Variante (p.Met240Ile) in seinem Genom vereint, kam ‚appropriate for gestational age‘ zur Welt, entwickelte aber postnatal eine Wachstumsretardierung. Die Endokrinologischen Daten waren unauffällig. Der Patient zeigt keine Stigmata, die bei anderen IGF1- oder SHOX-Mutationsträgern beschrieben wurden. Durch Nonsense-Mediated mRNA Decay kommt es zu einer Dosisreduktion der IGF1-Rezeptoren und einer entsprechenden verminderten Aktivierung der Rezeptoren, nicht aber des Signalwegs. Zusammenfassung: Der Patient trägt eine bisher unbeschrieben heterozygote IGF1R-Deletion, die zu Kleinwuchs führt. Ursächlich dafür ist eine durch die Mutation verursachte Dosisreduktion der IGF1-Rezeptoren.:Inhaltsverzeichnis I Abkürzungsverzeichnis - 4 - 1 Bibliographische Beschreibung - 7 - 1.1 Referat - 7 - 2 Einleitung und Hintergrund - 9 - 2.1 Das menschliche Wachstum - 9 - 2.2 Das IGF-System als Regulator von Wachstum u. Entwicklung - 10 - 2.3 Der IGF1-Rezeptor - 11 - 2.4 Formen des Kleinwuchses - 12 - 2.5 IGF1R-Mutationen - 13 - 2.6 SHOX-Defizienz - 14 - 2.7 Der Nonsense-Mediated mRNA Decay - 15 - 2.8 Alu-Elemente - 16 - 2.9 Überleitung - 17 - 4 Originalpublikation - 18 - 5 Zusammenfassung der Arbeit - 31 - 5.1 Patientenbeschreibung - 32 - 5.2 Experimentelle Untersuchungen - 33 - 5.3 Interpretation - 35 - 5.4 Ausblick - 37 - 6 Literaturverzeichnis - 39 - III Curriculum vitae - 50 - IV Danksagung - 52

Shock index and modified shock index are predictors of long-term mortality not only in STEMI but also in NSTEMI patients

BACKGROUND: Shock index (SI) and modified shock index (mSI) are useful instruments for early risk stratification in acute myocardial infarction (AMI) patients. They are strong predictors for short-term mortality. Nevertheless, the association between SI or mSI and long-term mortality in AMI patients has not yet been sufficiently examined. MATERIAL AND METHODS: For this study, a total of 10,174 patients with AMI was included. All cases were prospectively recorded by the population-based Augsburg Myocardial Infarction Registry from 2000 until 2017. Endpoint was all-cause mortality with a median observational time of 6.5 years [IQR: 3.5–7.4]. Using ROC analysis and calculating Youden-Index, the sample was dichotomized into a low and a high SI and mSI group, respectively. Moreover, multivariable adjusted COX regression models were calculated. All analyses were performed for the total sample as well as for STEMI and NSTEMI cases separately. RESULTS: Optimal cut-off values were 0.580 for SI and 0.852 for mSI (total sample). AUC values were 0.6382 (95% CI: 0.6223–0.6549) for SI and 0.6552 (95% CI: 0.6397–0.6713) for mSI. Fully adjusted COX regression models revealed significantly higher long-term mortality for patients with high SI and high mSI compared to patients with low indices (high SI HR: 1.42 [1.32–1.52], high mSI HR: 1.46 [1.36–1.57]). Furthermore, the predictive ability was slightly better for mSI compared to SI and more reliable in NSTEMI cases compared to STEMI cases (for SI and mSI). CONCLUSION: High SI and mSI are useful tools for early risk stratification including long-term outcome especially in NSTEMI cases, which can help physicians to make decision on therapy. NSTEMI patients with high SI and mSI might especially benefit from immediate invasive therapy. KEY MESSAGES: Shock index and modified shock index are predictors of long-term mortality after acute myocardial infarction. Both indices predict long-term mortality not only for STEMI cases, but even more so for NSTEMI cases

Prognostic value of stress hyperglycemia ratio on short- and long-term mortality after acute myocardial infarction

Aims: Prior studies demonstrated an association between hospital admission blood glucose and mortality in acute myocardial infarction (AMI). Because stress hyperglycemia ratio (SHR) has been suggested as a more reliable marker of stress hyperglycemia this study investigated to what extent SHR in comparison with admission blood glucose is associated with short- and long-term mortality in diabetic and non-diabetic AMI patients. Methods: The analysis was based on 2,311 AMI patients aged 25–84 years from the population-based Myocardial Infarction Registry Augsburg (median follow-up time 6.5 years [IQR: 4.9–8.1]). The SHR was calculated as admission glucose (mg/dl)/(28.7 × HbA1c (%)—46.7). Using logistic and COX regression analyses the associations between SHR and admission glucose and mortality were investigated. Result: Higher admission glucose and higher SHR were significantly and nonlinearly associated with higher 28-day mortality in AMI patients with and without diabetes. In patients without diabetes, the AUC for SHR was significantly lower than for admission glucose (SHR: 0.6912 [95%CI 0.6317–0.7496], admission glucose: 0.716 [95%CI 0.6572–0.7736], p-value: 0.0351). In patients with diabetes the AUCs were similar for SHR and admission glucose. Increasing admission glucose and SHR were significantly nonlinearly associated with higher 5-year all-cause mortality in AMI patients with diabetes but not in non-diabetic patients. AUC values indicated a comparable prediction of 5-year mortality for both measures in diabetic and non-diabetic patients. Conclusions: Stress hyperglycemia in AMI patients plays a significant role mainly with regard to short-term prognosis, but barely so for long-term prognosis, underlining the assumption that it is a transient dynamic disorder that occurs to varying degrees during the acute event, thereby affecting prognosis

Guideline adherence in the use of coronary angiography in patients presenting at the emergency department without myocardial infarction – results from the German ENLIGHT-KHK project

Background For patients with acute myocardial infarction (AMI), direct coronary angiography (CA) is recommended, while for non-AMI patients, the diagnostic work-up depends on clinical criteria. This analysis provides initial prospective German data for the degree of guideline-adherence (GL) in the use of CA on non-AMI patients presenting at the emergency department (ED) with suspected acute coronary syndrome (ACS) according to the 2015 ESC-ACS-GL. Furthermore the implications of the application of the 2020 ESC-ACS-GL recommendations were evaluated. Methods Patient symptoms were identified using a standardized questionnaire; medical history and diagnostic work-up were acquired from health records. In accordance with the 2015 ESC-ACS-GL, CA was considered GL-adherent if intermediate risk criteria (IRC) were present or non-invasive, image-guided testing (NIGT) was pathological. Results Between January 2019 and August 2021, 229 patients were recruited across seven centers. Patients presented with chest pain, dyspnea, and other symptoms in 66.7%, 16.2% and 17.1%, respectively, were in mean 66.3 ± 10.5 years old, and 36.3% were female. In accordance with the 2015 ESC-ACS-GL, the use of CA was GL-adherent for 64.0% of the patients. GL-adherent compared to non-adherent use of CA resulted in revascularization more often (44.5% vs. 17.1%, p < 0.001). Applying the 2020 ESC-ACS-GL, 20.4% of CA would remain GL-adherent. Conclusions In the majority of cases, the use of CA was adherent to the 2015 ESC-ACS-GL. With regard to the 2020 and 2023 ESC-ACS-GL, efforts to expand the utilization of NIGT are crucial, especially as GL-adherent use of CA is more likely to result in revascularization

Klinisches Erscheinungsbild und funktionelle Charakterisierung eines Patienten mit einer heterozygoten Exon 6 Deletion im IGF1R

Hintergrund: Der Insulin-like growth factor receptor (IGF1R) spielt eine zentrale Rolle bei Wachstumsprozessen. Heterozygote IGF1R-Mutationen führen durch eine partielle IGF1-Resistenz zu Kleinwuchs. Methoden: Auxologische und endokrinologische Daten des Patienten wurden erhoben. Anhand von Fibroblasten wurde die IGF1R-Deletion charakterisiert und die Auswirkungen auf die mRNA- und Protein-Expression sowie die Signaltransduktion untersucht. Ergebnisse: Der Junge, der eine heterozygote Exon 6 Deletion im IGF1R – durch Alu-Rekombination verursacht – und eine heterozygote SHOX-Variante (p.Met240Ile) in seinem Genom vereint, kam ‚appropriate for gestational age‘ zur Welt, entwickelte aber postnatal eine Wachstumsretardierung. Die Endokrinologischen Daten waren unauffällig. Der Patient zeigt keine Stigmata, die bei anderen IGF1- oder SHOX-Mutationsträgern beschrieben wurden. Durch Nonsense-Mediated mRNA Decay kommt es zu einer Dosisreduktion der IGF1-Rezeptoren und einer entsprechenden verminderten Aktivierung der Rezeptoren, nicht aber des Signalwegs. Zusammenfassung: Der Patient trägt eine bisher unbeschrieben heterozygote IGF1R-Deletion, die zu Kleinwuchs führt. Ursächlich dafür ist eine durch die Mutation verursachte Dosisreduktion der IGF1-Rezeptoren.:Inhaltsverzeichnis I Abkürzungsverzeichnis - 4 - 1 Bibliographische Beschreibung - 7 - 1.1 Referat - 7 - 2 Einleitung und Hintergrund - 9 - 2.1 Das menschliche Wachstum - 9 - 2.2 Das IGF-System als Regulator von Wachstum u. Entwicklung - 10 - 2.3 Der IGF1-Rezeptor - 11 - 2.4 Formen des Kleinwuchses - 12 - 2.5 IGF1R-Mutationen - 13 - 2.6 SHOX-Defizienz - 14 - 2.7 Der Nonsense-Mediated mRNA Decay - 15 - 2.8 Alu-Elemente - 16 - 2.9 Überleitung - 17 - 4 Originalpublikation - 18 - 5 Zusammenfassung der Arbeit - 31 - 5.1 Patientenbeschreibung - 32 - 5.2 Experimentelle Untersuchungen - 33 - 5.3 Interpretation - 35 - 5.4 Ausblick - 37 - 6 Literaturverzeichnis - 39 - III Curriculum vitae - 50 - IV Danksagung - 52