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1.
Klinični register bolnikov z rakom pljuč
Tanja Čufer, Mitja Košnik, 2013

Povzetek: V zadnjih desetletjih je bil narejen velik napredek na področju obvladovanja raka. Ta napredek temelji na obsežnem raziskovalnem delu na področju novih načinov diagnostike in zdravljenja ter na dobrem spremljanju epidemioloških podatkov o raku preko populacijskih registrov. Register raka Slovenije je eden prvih populacijskih registrov v svetu, ki nam že desetletja nudi podatke o pojavnosti, prevalenci in umrljivosti za posameznimi raki v Sloveniji. S pojavom novih diagnostičnih in terapevtskih metod, predvsem pa z razmahom molekularne diagnostike in tarčnega zdravljenja raka, se je pojavila potreba po dodatnem natančnem vodenju podatkov v okviru kliničnih registrov posameznih rakov. Ti registri omogočajo pridobivanje novih spoznanj o učinkovitosti in varnosti posameznih diagnostičnih ter terapevtskih pristopov pri bolnikih, oskrbljenih v okviru vsakodnevne klinične prakse. Zdravnikom in vodstvom bolnišnic pa nudijo neprecenljive podatke o učinkovitosti in kakovosti njihovega dela. Na Kliniki Golnik smo zato leta 2010 pričeli z delom na kliničnem registru raka pljuč, v okviru katerega zbiramo podatke o bolnikih, diagnosticiranih in zdravljenih zaradi raka pljuč na Kliniki Golnik. Pred meseci smo predstavili prvo polletno poročilo tega registra za leto 2010. Naša želja je v sodelovanju z ostalimi institucijami združiti v tem registru podatke o bolnikih z rakom pljuč, ne glede na to, kje v državi so diagnosticirani ali zdravljeni.
Ključne besede: register bolnikov, Golnik, pljučni rak, bolezni dihal
DiRROS - Objavljeno: 31.08.2018; Ogledov: 1818; Prenosov: 469
.pdf Celotno besedilo (379,53 KB)

2.
Državni program obvladovanje raka in Klinika Golnik
Mitja Košnik, Tanja Čufer, Nadja Triller, 2011

Ključne besede: Slovenija, državni programi, onkologija
DiRROS - Objavljeno: 17.09.2019; Ogledov: 1328; Prenosov: 361
.pdf Celotno besedilo (95,28 KB)

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Is diet partly responsible for differences in COVID-19 death rates between and within countries? : protocol for a systematic review
Mihaela Zidarn, Jure Urbančič, Tanja Soklič, Davor Plavec, Bojan Madjar, Klemen Jenko, Samo Kreft, Maja Jošt, Peter Kopač, Anja Koren, Mitja Košnik, Tari Haahtela, Karmen Kramer Vrščaj, Giorgio Walter Canonica, Hubert Blain, Cezmi A. Akdis, Aram Anto, Tari Haahtela, Wienczyslawa Czarlewski, Guido Laccarino, Josep M. Antò i Boquè, Jean Bousquet, 2020

Povzetek: Reported COVID-19 deaths in Germany are relatively low as compared to many European countries. Among the several explanations proposed, an early and large testing of the population was put forward. Most current debates on COVID-19 focus on the differences among countries, but little attention has been given to regional differences and diet. The low-death rate European countries (e.g. Austria, Baltic States, Czech Republic, Finland, Norway, Poland, Slovakia) have used different quarantine and/or confinement times and methods and none have performed as many early tests as Germany. Among other factors that may be significant are the dietary habits. It seems that some foods largely used in these countries may reduce angiotensin-converting enzyme activity or are anti-oxidants. Among the many possible areas of research, it might be important to understand diet and angiotensin-converting enzyme-2 (ACE2) levels in populations with different COVID-19 death rates since dietary interventions may be of great benefit.
Ključne besede: coronavirus, diet, angiotensin-converting enzyme, antioxidant, food
DiRROS - Objavljeno: 09.09.2020; Ogledov: 681; Prenosov: 336
.pdf Celotno besedilo (1,12 MB)

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Heat shock protein 27 as a predictor of prognosis in patients admitted to hospital with acute COPD exacerbation
Peter Korošec, Aleš Rozman, Matjaž Fležar, Mitja Košnik, Robert Marčun, Mitja Lainščak, Alexandra Graf, Thomas Mueller, Elisabeth Simader, Christine Bekos, Denise Traxler, Matthias Zimmermann, 2020

Povzetek: Episodes of acute exacerbations are major drivers of hospitalisation and death from COPD. To date, there are no objective biomarkers of disease activity or biomarkers to predict patient outcome. In this study, 211 patients hospitalised for an acute exacerbation of COPD have been included. At the time of admission,routine blood tests have been performed including complete blood count, C-reactive protein, cardiac troponin T and NT-proBNP. Heat shock protein 27 (HSP27) serum concentrations were determined at time of admission, discharge and 180 days after discharge by ELISA. We were able to demonstrate significantly increased HSP27 serum concentrations in COPD patients at time of admission to hospital as compared to HSP27 concentrations obtained 180 days after discharge. In univariable Cox regression analyses, a HSP27 serum concentration >/= 3098 pg/mL determined at admission was a predictor of all-cause mortality at 90 days, 180 days, 1 year and 3 years. In multivariable analyses, an increased HSP27 serum concentration at admission retained its prognostic ability with respect to all-cause mortality for up to 1year follow-up. However, an increased HSP27 serum concentration at admission was not an independent predictor of long-term all-cause mortality at 3 years. Elevated serum HSP27 concentrations significantly predicted short-term mortality in patients admitted to hospital with acute exacerbation of COPD and could help to improve outcomes by identifying high-risk patients.
Ključne besede: COPD, acute exacerbation, disease activity
DiRROS - Objavljeno: 29.07.2020; Ogledov: 757; Prenosov: 353
.pdf Celotno besedilo (679,90 KB)

8.
Cabbage and fermented vegetables : from death rate heterogeneity in countries to candidates for mitigation strategies of severe COVID-19
Jean Bousquet, Josep M. Antò i Boquè, Wienczyslawa Czarlewski, Tari Haahtela, Susana C. Fonseca, Guido Laccarino, Hubert Blain, Alain Vidal, Aziz Sheikh, Cezmi A. Akdis, Torsten Zuberbier, Samo Kreft, Klemen Jenko, Maja Jošt, Peter Kopač, Mitja Košnik, Karmen Kramer Vrščaj, Bojan Madjar, Davor Plavec, Tanja Soklič, Jure Urbančič, Mihaela Zidarn, 2020

Povzetek: Large differences in COVID-19 death rates exist between countries and between regions of the same country. Some very low death rate countries such as Eastern Asia, Central Europe or the Balkans have a common feature of eating large quantities of fermented foods. Although biases exist when examining ecological studies, fermented vegetables or cabbage were associated with low death rates in European countries. SARS-CoV-2 binds to its receptor, the angiotensin converting enzyme 2 (ACE2). As a result of SARS-Cov-2 binding, ACE2 downregulation enhances the angiotensin II receptor type 1 (AT1R) axis associated with oxidative stress. This leads to insulin resistanceas well as lung and endothelial damage, two severe outcomes of COVID-19. The nuclear factor (erythroid-derived 2)-like 2 (Nrf2) is the most potent antioxidant in humans and can block the AT1R axis. Cabbage contains precursors of sulforaphane, the most active natural activator of Nrf2. Fermented vegetables contain many lactobacilli, which are also potent Nrf2 activators. Three examples are given: Kimchi in Korea, westernized foods and the slum paradox. It is proposed that fermented cabbage is a proof-of-concept of dietary manipulations that may enhance Nrf2-associated antioxidant effects helpful in mitigating COVID-19 severity.
Ključne besede: COVID-19, diet, sulforaphane, Lactobacillus, Angiotensin converting enzyme 2, kimchi, cabbage, fermented vegetable
DiRROS - Objavljeno: 07.10.2020; Ogledov: 569; Prenosov: 117

9.
Functional complement analysis can predict genetic testing results and long-term outcome in patients with complement deficiencies
Štefan Blazina, Maruša Debeljak, Mitja Košnik, Saša Simčič, Sanja Stopinšek, Gašper Markelj, Nataša Toplak, Peter Kopač, Breda Zakotnik, Marko Pokorn, Tadej Avčin, 2018

Povzetek: Background: Prevalence of complement deficiencies (CDs) is markedly higher in Slovenian primary immunodeficiency (PID) registry in comparison to other national and international PID registries. Objective: The purposes of our study were to confirm CD and define complete and partial CD in registered patients in Slovenia, to evaluate frequency of clinical manifestations, and to assess the risk for characteristic infections separately for subjects with complete and partial CD. Methods: CD was confirmed with genetic analyses in patients with C2 deficiency, C8 deficiency, and hereditary angioedema or with repeated functional complement studies and measurement of complement components in other CD. Results of genetic studies (homozygous subjects vs. heterozygous carriers) and complement functional studies were analyzed to define complete (complement below the level of heterozygous carriers) and partial CD (complement above the level of homozygous patients). Presence of characteristic infections was assessed separately for complete and partial CD. Results: Genetic analyses confirmed markedly higher prevalence of CD in Slovenian PID registry (26% of all PID) than in other national and international PID registries (0.5–6% of all PID). Complement functional studies and complement component concentrations reliably distinguished between homozygous and heterozygous CD carriers. Subjects with partial CD had higher risk for characteristic infections than previously reported. Conclusion: Results of our study imply under-recognition of CD worldwide. Complement functional studies and complement component concentrations reliably predicted risk for characteristic infections in patients with complete or partial CD. Vaccination against encapsulated bacteria should be advocated also for subjects with partial CD and not limited to complete CD.
Ključne besede: complement deficiency, primary immunodeficiency, laboratory analysis, genetic analysis, clinical manifestations
DiRROS - Objavljeno: 12.11.2020; Ogledov: 511; Prenosov: 214
.pdf Celotno besedilo (1000,60 KB)

10.
Hereditary angioedema due to C1-inhibitor deficiency in Macedonia : clinical characteristics, novel SERPING1 mutations, and genetic factors modifying the clinical phenotype
Vesna Grivčeva-Panovska, Mitja Košnik, Peter Korošec, Slađana Andrejević, Ljerka Karadža-Lapić, Matija Rijavec, 2018

Povzetek: Objective: Hereditary angioedema due to C1 inhibitor deficiency (C1-INH-HAE) is a rare disease, characterized by swellings. We aimed to characterize on a clinical and molecular basis C1-INH-HAE patients in the Republic of Macedonia. Results: All 15 patients from six unrelated families were diagnosed with C1-INHHAE type I, with a mean age of symptom onset of 11 years and an average delay of diagnosis of 7 years. Patients reported on average 31 angioedema attacks/year, with a median clinical severity score (CSS) of 7. We identified three known mutations, and two mutations (c.813_818delCAACAA and c.1488T>G) were reported for the first time. To address the genotype-phenotype association, a pooled analysis including 78 C1-INH-HAE south-eastern European patients was performed, with additional analysis of F12-46C/T and KLKB1- 428G/A polymorphisms. We demonstrated that patients with nonsense and frameshift mutations, large deletions/insertions, splicing defects, and mutations at Arg444 exhibited an increased CSS compared with missense mutations, excluding mutations at Arg444. In addition, the CC F12-46C/T polymorphism was suggestive of earlier disease onset. Discussion: Genetic analysis helped identify the molecular basis of C1-INH-HAE given that causative mutations in SERPING1 were detected in all patients, including an infant before the appearance of clinical symptoms. We identified two novel mutations and further corroborated the genotype-phenotype relationship, wherein mutations with a clear effect on C1-INH function predispose patients to a more severe disease phenotype and CC F12-46C/T predisposes patients to earlier disease onset.
Ključne besede: hereditary angioedemas -- genetics -- Macedonia, C1 inhibitor, SERPING1 gene, C1 inhibitor, SERPING1 gene
DiRROS - Objavljeno: 30.11.2020; Ogledov: 474; Prenosov: 98

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