221. Priporočila za obravnavo bolnikov z rakom glave in vratu v SlovenijiPrimož Strojan, Aleksandar Aničin, Jelena Azarija, Saba Battelino, Bogdan Čizmarevič, Vojislav Didanovič, Tadej Dovšak, Marta Dremelj, Aleš Fidler, Matic Glavan, Cvetka Grašič-Kuhar, Aleš Grošelj, Andrej Kansky, Katarina Barbara Karner, Marko Kokalj, Matic Koren, Jana Krapež, Hojka Kuralt, Boštjan Lanišnik, Primož Levart, Jure Orel, Jošt Pavčič, Gaber Plavc, Luka Prodnik, Peter Pukl, Robert Šifrer, Matija Švagan, Jure Urbančič, Branko Zakotnik, Nina Zidar, Barbara Žumer, 2021, strokovni članek Povzetek: Priporočila za obravnavo rakov glave in vratu (RGV) v Sloveniji sledijo priporočilom in usmeritvam, povzetim v publikaciji neprofitne mreže 30 vodilnih severnoameriških inštitucij za obravnavo raka, National Comprehensive Cancer Network,1 in hkrati upoštevajo obstoječe zmožnosti slovenskega zdravstvenega sistema. Smernice predstavljajo poenoteno mnenje vseh štirih najpomembnejših deležnikov na področju obravnave rakov glave in vratu v državi: Klinike za otorinolaringologijo in cervikofacialno kirurgijo, Kliničnega oddelka za maksilofacialno in oralno kirurgijo ter Stomatološke klinike UKC Ljubljana, Klinike za otorinolaringologijo, cervikalno in maksilofacialno kirurgijo UKC Maribor ter Onkološkega inštituta Ljubljana
Ključne besede: rak glave in vratu, zdravljenje, onkolško zdravljenje
Objavljeno v DiRROS: 11.06.2021; Ogledov: 1622; Prenosov: 391
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222. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestationsJulian Thalhammer, Gerhard Kindle, Alexandra Nieters, Stephan Rusch, Mikko R. J. Seppänen, Alain Fischer, Bodo Grimbacher, David Edgar, Matthew Buckland, Nizar Mahlaoui, 2021, izvirni znanstveni članek Povzetek: Background. Inborn errors of immunity (IEI) are rare diseases, which makes diagnosis a challenge. A better description of the initial presenting manifestations should improve awareness and avoid diagnostic delay. Although increased infection susceptibility is a well-known initial IEI manifestation, less is known about the frequency of other presenting manifestations. Objective. We sought to analyze age-related initial presenting manifestations of IEI including different IEI disease cohorts. Methods. We analyzed data on 16,486 patients of the European Society for Immunodeficiencies Registry. Patients with autoinflammatory diseases were excluded because of the limited number registered. Results. Overall, 68% of patients initially presented with infections only, 9% with immune dysregulation only, and 9% with a combination of both. Syndromic features were the presenting feature in 12%, 4% had laboratory abnormalities only, 1.5% were diagnosed because of family history only, and 0.8% presented with malignancy. Two-third of patients with IEI presented before the age of 6 years, but a quarter of patients developed initial symptoms only as adults. Immune dysregulation was most frequently recognized as an initial IEI manifestation between age 6 and 25 years, with male predominance until age 10 years, shifting to female predominance after age 40 years. Infections were most prevalent as a first manifestation in patients presenting after age 30 years. Conclusions. An exclusive focus on infection-centered warning signs would have missed around 25% of patients with IEI who initially present with other manifestations.
Ključne besede: immunity, autoimmune diseases, inflammation, signs and symptoms, registries, inborn error of immunity, primary immunodeficiency, immune dysregulation
Objavljeno v DiRROS: 28.05.2021; Ogledov: 1010; Prenosov: 239
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223. Gene expression levels of the prolyl hydroxylase domain proteins PHD1 and PHD2 but not PHD3 are decreased in primary tumours and correlate with poor prognosis of patients with surgically resected non-small-cell lung cancerAna Koren, Matija Rijavec, Tomaž Krumpestar, Izidor Kern, Aleksander Sadikov, Tanja Čufer, Peter Korošec, 2021, izvirni znanstveni članek Povzetek: Background: Hypoxia correlates with poor prognosis in several cancer types, including lung cancer. Prolyl hydroxylase domain proteins (PHDs) play a role in cell oxygen sensing, negatively regulating the hypoxia-inducible factor (HIF) pathway. Our study aim was to evaluate PHD1, PHD2 and PHD3 mRNA expression levels in primary tumours and normal lungs of non-small-cell lung cancer (NSCLC) patients and to correlate it with selected regulators of HIF signalling, with clinicopathological characteristics and overall survival (OS). Methods: Tumour tissue samples were obtained from 60 patients with surgically resected NSCLC who were treated with radical surgery. In 22 out of 60 cases, matching morphologically normal lung tissue was obtained. PHD1, PHD2 and PHD3 mRNA expressions were measured using RT-qPCR. Results: The PHD1 and PHD2 mRNA levels in primary tumours were significantly decreased compared to those in normal lungs (both p < 0.0001). PHD1 and PHD2 expression in tumours was positively correlated (rs = 0.82; p < 0.0001) and correlated well with HIF pathway downstream genes HIF1A, PKM2 and PDK1. Decreased PHD1 and PHD2 were associated with larger tumour size, higher tumour stage (PHD1 only) and squamous cell carcinoma. Patients with low PHD1 and patients with low PHD2 expression had shorter OS than patients with high PHD1 (p = 0.02) and PHD2 expression (p = 0.01). PHD1 showed borderline independent prognostic values in multivariate analysis (p = 0.06). In contrast, we found no associations between PHD3 expression and any of the observed parameters. Conclusions: Our results show that reduced expression of PHD1 and PHD2 is associated with the development and progression of NSCLC. PHD1 could be further assessed as a prognostic marker in NSCLC.
Ključne besede: non-small-cell lung carcinoma, prognosis, non-small cell lung cancer, mRNA expression, prolyl hydroxylase domain proteins
Objavljeno v DiRROS: 21.05.2021; Ogledov: 1251; Prenosov: 890
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