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Secondary findings in hereditary cancer genes after germline genetic testing
No full textIn the last decade the increasing use of germline genetic testing has led to frequent discoveries of secondary findings (SF) in hereditary cancer (HC) genes. Disclosure and clinical management of such findings are still not clearly defined and raise many ethical, clinical, and practical questions. This systematic review is focused on frequency of reported SF in HC genes across different populations as well as summarizing current guidelines, recommendations, and actual clinical practice about reporting and managing SF in HC genes. A systematic literature search according to the PRISMA guidelines was performed on the electronic database PubMed from inception to June 2024. 30 research papers involving almost 150,000 patients were reviewed. The reported frequencies of SF in HC genes varied between 0.4 and 3.1%. The majority of patients agreed to receive SF for medically actionable genes. Management and surveillance of patients after disclosure of SF in HC genes were rarely reported, but the limited data show no regret of receiving such results as well as diagnoses of early-stage cancer in patients participating in recommended surveillance programs related to SF. A substantial number of carriers of highly penetrant pathogenic variants in HC genes is discovered by reporting SF after germline genetic testing with next-generation sequencing. Additional information about the impact of SF disclosure on individuals and health care systems is needed to optimize the integration of SF into clinical care
Influence of heat regulator slot size on uniformity of heat distribution in an industrial oven
No full textEnakomerna porazdelitev toplote v peči je eden izmed ključnih dejavnikov za uspeh v industriji peke kruha. Pri širših izvedbah peči pogosto prihaja do temperaturnih razlik med levo in desno stranjo peči. Ta problem se poskuša odpraviti z regulatorji toplote. Za izboljšanje trenutnega stanja sem se odločil izdelati nove prototipe regulatorjev in jih testirati v praksi. Začel sem z izdelavo 3D modela, ki sem ga kasneje numerično analiziral s programsko opremo ter kasneje eksperimentalno testiral v dejanski peči. S spreminjanjem velikosti izrezov na regulatorjih toplote spremenimo preseke rež med loputami, skozi katere dimni plini potujejo v posamezne kanale pečnice. Z novimi regulatorji smo dosegli zadovoljive rezultate ter potrditev o premiku razvoja v pravo smer.Even heat distribution in the oven is one of the key factors for success in the bread baking industry. In wider oven designs, there are often temperature differences between the left and right sides of the oven. This problem is being addressed with heat regulators. To improve the current situation, I decided to create new prototypes of the regulators and test them in practice. I started by creating a 3D model, which I later numerically analyzed with software and later experimentally tested in an actual oven. By changing the size of the slots on the heat regulators, we change the cross-sections of the slots between the hatches through which the flue gases travel to the individual oven channels. With the new regulators, we have achieved satisfactory results and confirmed that development is moving in the right direction
Selection of the optimal aircraft for basic private pilot training
No full textV delu je obravnavana izbira optimalnega letala za osnovno usposabljanje športnih pilotov PPL(A) v Sloveniji. Metodologija vključuje pregled zahtev EASA, analizo pogojev ATO/DTO in primerjavo treh najpogosteje uporabljenih tipov (Cessna 172N, Pipistrel Virus SW121, Piper PA-38) na podlagi podatkov iz POH in preračuna stroškov vzdrževanja ter goriva. Rezultati kažejo, da je Pipistrel Virus SW121 stroškovno najučinkovitejši in se izkaže kot najbolj optimalno letalo za izvajanje programa, medtem ko Cessna 172N izstopa po vsestranskosti, Tomahawk pa po nižji nakupni ceni in omejenem dosegu. V analizo so vključeni servisni intervali in tipični periodični pregledi, ki vplivajo na skupne stroške obratovanja. Stroški so obravnavani po enotni metodologiji, kar omogoča neposredno primerjavo med tipi letal. Ugotovitve predstavljajo podlago za odločanje letalskih šol in posameznikov pri izbiri letala za učinkovito izvajanje programa usposabljanja PPL(A).The thesis examines the selection of the optimal aircraft for basic PPL(A) training in Slovenia. The methodology includes a review of EASA requirements, an analysis of ATO/DTO conditions, and a comparison of the three most commonly used aircraft types (Cessna 172N, Pipistrel Virus SW121, and Piper PA-38) based on POH data and calculated maintenance and fuel costs. The results show that the Pipistrel Virus SW121 is the most cost-efficient and proves to be the most optimal aircraft for conducting the programme, while the Cessna 172N stands out for its versatility and the Tomahawk for its lower purchase price and shorter range. The analysis also considers service intervals and typical periodic inspections that influence overall operating costs. Costs are assessed using a uniform methodology, enabling a direct comparison between the aircraft types. The findings provide a basis for decision-making for flight training organisations and individuals when selecting an aircraft for efficient PPL(A) training delivery
The importance of green areas for sustainable urban development: a case study of Kranj
No full textZelene površine predstavljajo pomemben element kakovostnega urbanega okolja in prispevajo h konceptu trajnostnega urbanega razvoja, saj vplivajo na vse tri stebre trajnosti – ekonomskega, okoljskega in družbenega. V urbanih območjih se pogosto pojavlja problem pomanjkanja zelenih površin, zato je pomembno njihovo načrtovanje. Kranj, kot primer mesta z zgoščeno poselitvijo in usmerjenim načrtovanjem trajnostnega razvoja, predstavlja ustrezno območje za preučevanje pomena zelenih površin.
Namen diplomske naloge je preučiti pomen zelenih površin na trajnostni urbani razvoj na primeru mesta Kranj, pri čemer sta osrednji metodi dela anketiranje prebivalcev Kranja ter preučevanje dokumentov Trajnostne urbane strategije Mestne občine Kranj 2030 in Trajnostne urbane strategije Mestne občine Kranj 2030+. Na podlagi ugotovitev diplomska naloga podaja priporočila za nadaljnji razvoj in izboljšanje načrtovanja zelenih površin v Mestni občini Kranj.Green spaces are a key element of a quality urban environment and make an important contribution to sustainable urban development, as they affect all three pillars of sustainability – economic, environmental and social. Urban areas often have problems of lacking green spaces, which makes their planning particularly important. The city of Kranj, as an example of dense settlement and strategically guided sustainable development is appropriate example for examining the importance of green spaces.
The aim of the thesis was to examine the importance of green spaces for sustainable urban development using the city of Kranj as a case study, where the two main research methods are a survey of Kranj residents and an analysis of two strategic documents, namely the Trajnostna urbana strategija Mestne občine Kranj 2030 and Trajnostna urbana strategija Mestne občine Kranj 2030+ . Based on the findings, the thesis gives recommendations for further development and improvement of green spaces planning in Municipality of Kranj
Association of some endocrine disrupting chemicals with premature ovarian failure
No full textKončni naslov: POVEZAVA NEKATERIH ENDOKRINIH MOTILCEV IN KEMIČNIH ELEMENTOV S PREZGODNJO ODPOVEDJO DELOVANJA JAJČNIKOV
Uvod: Etiologija prezgodnje odpovedi jajčnikov (POF) je slabo raziskana, saj vzrok ostaja v približno 75 % primerov neznan. Med možnimi dejavniki tveganja je tudi izpostavljenost okoljskim onesnaževalcem. Doktorska naloga predstavlja prvo raziskavo, ki primerja koncentracije 10 različnih endokrinih motilcev (EM) v urinu in 9 različnih kemičnih elementov (KE) v urinu, serumu in polni krvi pri ženskah s POF v primerjavi z zdravimi kontrolami (HC), da bi ugotovila njihovo izpostavljenost in morebitne povezave analiziranih snovi s POF.
Metode: V presečno raziskavo primerov s kontrolami je bilo med januarjem 2021 in septembrom 2023, na podlagi dovoljenja Komisije za medicinsko etiko Republike Slovenije ter ob predhodno pridobljenih podpisanih informiranih soglasjih, vključenih 81 preiskovank (40 žensk s POF in 41 zdravih kontrol), starih med 20 in 46 let. Krvni in urinski vzorci so bili analizirani za osnovne biokemične parametre s standardnimi validiranimi metodami diagnostične klinične biokemije. Koncentracijo KE (bakra - Cu, cinka - Zn, selena - Se, molibdena - Mo, mangana - Mn, arzena - As, kadmija - Cd, svinca - Pb in živega srebra - Hg) v urinu, serumu in polni krvi smo analizirali z masno spektrometrijo z induktivno sklopljeno plazmo (ICP-MS), koncentracije EM (bisfenola A - BPA, bisfenola S - BPS, bisfenola F - BPF, metilparabena - MeP, etilparabena - EtP, benzilparabena - BzP, propilparabena - PrP, butilparabena - BuP, izobutilparabena - izoBuP in triklosana - TCS) v urinu pa z metodo plinske kromatografije s tandemsko masno spektrometrijo (GC-MS/MS). Udeleženke so izpolnile vprašalnike o demografskih in zdravstvenih podatkih, življenjskem slogu in prehrani. Podatki so bili analizirani z Mann-Whitney U-testom, Student t-testom, Fisher eksakt testom, Kendall tau korelacijo, logističnimi regresijskimi modeli (LRM), prilagojenimi glede na indeks telesne mase (ITM), starost in hematokrit ter univariatnimi in multivariatnimi modeli linearne regresije. Urinske koncentracije KE in EM so bile normalizirane na vrednosti kreatinina in specifično gostoto urina. Pri EM in KE z manj kot 50 % deležem meritev pod mejo kvantifikacije (LOQ) oziroma zaznave (LOD) so bile te imputirane s postopkom multiple imputacije v mejah vrednosti med 0 in LOQ/LOD. EM z več kot 50 % vrednosti pod LOQ so bili razvrščene v štiri kategorijeprva je vključevala vse meritve pod LOQ, izmerjene vrednosti pa so bile razdeljene v tercile.
Rezultati: Analiza biokemičnih parametrov je pokazala, da so imele ženske s POF v primerjavi s kontrolami po Bonferroni korekciji značilno višjo širino porazdelitve rdečih krvničk (RDW) ter manjši kreatinin, specifično gostoto urina in povprečni volumen trombocitov (MPV). Ocena delovanja jeter in ledvic ni pokazala značilnih razlik med skupinama. POF skupina je imela višji ITM in večji delež bolnic s POF je prebival na podeželskih kmetijskih območjih. Od parametrov iz vprašalnika je po Bonferroni korekciji ostala statistično značilna nižja pogostost uživanja alkohola in uporabe rdečila za ustnice ter višja pojavnost sežiganja odpadkov v bližini bivališč pri POF skupini. Po prilagoditvi v LRM so bile pri bolnicah s POF v urinu značilno nižje koncentracije Cu, Zn, Se, Mo, Cd in Hg v primerjavi s kontrolami, medtem ko so bile koncentracije Mn v polni krvi višje. V serumu je bil Cu pri bolnicah s POF značilno povišan, medtem ko so bile koncentracije Pb, Cd in Hg nižje. Za As niso bile ugotovljene značilne razlike. Med skupinama po prilagoditvi v LRM ni bilo razlik v koncentracijah BPA, BPF, MeP, BzP, PrP, BuP, izoBuP in TCS. Vrednosti EtP in BPS so bile značilno različne med skupinama. Pri POF skupini je bil delež vrednosti v najvišji kategoriji koncentracij glede na referenčno kategorijo (< LOQ) značilno višji pri EtP in nižji pri BPS v primerjavi s kontrolno skupino.
Korelacijska analiza je pokazala več šibkih do zmernih povezav med KE, EM ter demografskimi in biokemičnimi parametri. Rezultati analize univariatnih in nato multivariatnih modelov linearne regresije so skupno pokazali 17 značilnih povezav med neodvisnimi spremenljivkami vprašalnika in biokemije in odvisnimi spremenljivkamikoncentracijami KE in EM v bioloških vzorcih preiskovank. Največ značilnih napovednih spremenljivk je bilo ugotovljenih za koncentracijo Se v urinu, vključno z MPV, uporabo rdečila za ustnice, jemanjem zdravil, pogostostjo uživanja testenin ter pitjem sadnega čaja v zadnjih 24 urah. Najizrazitejši učinki pa so bili opaženi pri koncentraciji Cu v urinu, ki je bila značilno povezana z izpostavljenostjo okoljskim virom onesnaženja, predvsem bližino gostega prometa.
Zaključek: Rezultati raziskave nakazujejo možne povezave med določenimi KE, EM in POF, vključno z izpostavljenostjo nekaterim okoljskim dejavnikom, kot je sežiganje odpadkov v bližini bivališč. Ključna ugotovitev je, da so bile koncentracije večine analiziranih KE (Zn, Se, Cu, Mo, Cd in Hg) ter BPS v urinu bolnic s POF značilno nižje, medtem ko so bile koncentracije Cu v serumu višje, Cd, Hg in Pb pa nižje v primerjavi s kontrolno skupino. Med vsemi preučevanimi EM je bil EtP edini, ki je bil pri bolnicah s POF prisoten v značilno višjih koncentracijah.Association of some endocrine disrupting chemicals and chemical elements with premature ovarian failure
Introduction: The etiology of premature ovarian failure (POF) remains poorly understood, with approximately 75 % of cases classified as idiopathic. Among the potential risk factors, exposure to environmental pollutants has been proposed. This doctoral dissertation presents the first study comparing the concentrations of ten different endocrine-disrupting chemicals (EDCs) in urine and nine different chemical elements (CEs) in urine, serum, and whole blood between women with POF and healthy controls (HC), to assess exposure and identify potential associations of these substances with POF.
Methods: In this cross-sectional case–control study, 81 women (40 with POF and 41 healthy controls), aged between 20 and 46 years, were enrolled between January 2021 and September 2023 following approval by the National Medical Ethics Committee of the Republic of Slovenia and after obtaining signed informed consent. Blood and urine samples were analyzed for standard biochemical parameters using validated clinical diagnostic methods. The concentrations of CEsincluding copper (Cu), zinc (Zn), selenium (Se), molybdenum (Mo), manganese (Mn), arsenic (As), cadmium (Cd), lead (Pb), and mercury (Hg) in urine, serum, and whole blood were measured using inductively coupled plasma mass spectrometry (ICP-MS). Urinary concentrations of EDCsincluding bisphenol A (BPA), bisphenol S (BPS), bisphenol F (BPF), methylparaben (MeP), ethylparaben (EtP), benzylparaben (BzP), propylparaben (PrP), butylparaben (BuP), isobutylparaben (isoBuP), and triclosan (TCS) were measured using gas chromatography coupled with tandem mass spectrometry (GC-MS/MS). Participants completed structured questionnaires on demographic characteristics, health status, lifestyle, and dietary habits.
Data were analyzed using the Mann-Whitney U test, Student’s t-test, Fisher’s exact test, Kendall’s tau correlation, and logistic regression models adjusted for body mass index (BMI), age, and hematocrit, as well as univariate and multivariate linear regression models. Urinary CEs and EDC concentrations were normalized to creatinine and specific gravity. For compounds with fewer than 50 % of measurements below the limit of detection (LOD) or limit of quantification (LOQ), values were imputed using multiple imputation within the 0 – LOD/LOQ range. EDCs with more than 50% of values below the LOQ were classified into four categoriesthe first included all values below the LOQ, while the measured values were divided into tertiles.
Results: Analysis of biochemical parameters showed that, after Bonferroni correction, women with POF had significantly higher red cell distribution width (RDW) and lower mean platelet volume (MPV), urinary creatinine, and specific gravity compared to controls. No significant differences were observed in hepatic or renal function markers. Women with POF had higher BMIs and were more likely to live in rural agricultural areas. After correction, questionnaire data indicated significantly lower frequency of alcohol consumption and lipstick use, and a higher prevalence of waste burning near residences among the POF group.
Adjusted logistic regression models showed significantly lower urinary concentrations of Cu, Zn, Se, Mo, Cd, and Hg in the POF group compared to controls, while whole-blood Mn levels were higher. In serum, Cu levels were significantly higher in POF cases, whereas Pb, Cd, and Hg were significantly lower. No significant differences were observed for As. Among EDCs, BPA, BPF, MeP, BzP, PrP, BuP, iBuP, and TCS showed no significant differences between groups, while EtP and BPS levels differed significantly. In the POF group, the proportion of individuals with values in the highest EtP category (compared to the reference category < LOQ) was significantly greater, while the proportion in the highest BPS category was significantly lower, relative to controls.
Correlation analyses showed several weak to moderate associations between CEs, EDCs, and demographic or biochemical parameters. In total, univariate and multivariate linear regression analyses identified 17 statistically significant associations between questionnaire/biochemical predictors and CE/EDC concentrations. The highest number of significant predictors was found for urinary Se, including MPV, lipstick use, medication intake, pasta consumption frequency, and fruit tea intake within the previous 24 hours. The strongest effects were observed for urinary Cu, which was significantly associated with environmental pollution sources, particularly proximity to heavy traffic.
Conclusion: The findings of this study suggest potential associations between selected CEs, EDCs, and POF, including environmental exposures such as waste burning near residential areas. A key finding was the significantly lower urinary concentrations of most analyzed CEs (Zn, Se, Cu, Mo, Cd, and Hg) and BPS in women with POF compared to healthy controls. In contrast, serum levels of Cu were significantly higher, whereas concentrations of Cd, Hg, and Pb were lower in the POF group. Among all EDCs assessed, EtP was the only compound present at significantly higher levels in women with POF
Paintings from the interwar period in 9th-grade history teaching in elementary school
No full textMagistrsko delo obravnava pomen in vlogo umetniških slik pri pouku zgodovine, s poudarkom na obdobju med obema svetovnima vojnama. Umetniške slike prispevajo k boljšemu razumevanju zgodovinskih obdobij, saj učencem omogočajo poglobljeno doživljanje preteklosti in spodbujajo medpredmetno povezovanje z umetnostjo. V praktičnem delu sta predstavljeni dve različni učni uri za delo z umetniškimi slikami v 9. razredu osnovne šole. Anketni odgovori devetošolcev kažejo, da učenke in učenci delo z umetniškimi slikami doživljajo kot zanimivo. Intervjuji z učitelji zgodovine pa nakazujejo pomen vključevanja umetniških del v pouk zgodovine in izpostavljajo priložnosti za razvoj sodobnejših učnih pristopov. Ugotovitve magistrskega dela kažejo, da uporaba umetniških slik v osnovni šoli prispeva k večjemu zanimanju učencev za zgodovino ter spodbuja razumevanje zgodovine skozi umetnost.This master’s thesis examines the role of visual art in history teaching, with a particular focus on the interwar period. Paintings and other artworks support students’ understanding of historical periods by enabling a deeper engagement with the past and by fostering interdisciplinary connections with art education. The practical part presents two lesson plans for working with paintings in 9th-grade history classes in elementary school. The survey responses of ninth-grade students show that they find working with artworks engaging and helpful for understanding historical content, while interviews with history teachers highlight the importance of incorporating visual sources into history teaching as well as the potential for developing more contemporary didactic approaches. The findings indicate that the use of artworks in elementary-school history instruction enhances students’ interest in the subject and supports a deeper understanding of historical content through visual interpretation and interdisciplinary learning
Analysis of technical and artistic aspects of 2D and 3D animation
No full textV diplomskem delu smo raziskovali, kakšna je razlika v izdelavi in izgledu 2D in 3D animacije. Da smo ugotovili razliko med njima, smo izdelali dve animaciji, eno v 2D in drugo v 3D tehniki. V teoretičnem delu smo obrazložili, kaj animacija sploh je, splošna načela animacije ter kaj je 2D in 3D animacija. Pojasnili smo tudi njuno delovanje v današnjem času in splošne razlike med njima. V eksperimentalnem delu smo predstavili vso računalniško programsko opremo, ki smo jo uporabili pri obeh tehnikah izdelave za animaciji. Delali smo po enakem zgodborisu in sinopsisu, torej je bila zgodba obeh animacij enaka, medtem ko se tehniki izdelave razlikujeta. Izdelavo obeh animacij smo razdelili na predprodukcijo, produkcijo in postprodukcijo ter prikazali, kakšna natanko je dejanska razlika v izdelavi obeh animacij časovno in oblikovno. V predprodukciji smo opisali izdelavo vseh referenc, skic, 3D modelov, nato pa še opisali produkcijo animiranja v obeh tehnikah. Za konec pa razložili, kako smo vse dele spravili v končni izdelek v postprodukciji. Vse reference smo izrisali v aplikaciji Procreate na tablici, preden smo se lotili modeliranja na računalniku v programu za 3D animacijo Blender in samega animiranja 2D animacije v aplikacijah Procreate in Procreate Dreams. Vse skupaj smo z zvokom združili v programu DaVinci Resolve. Končni izdelek sta dve animaciji z enako zgodbo, ki pa sta bili narejeni v dveh različnih animacijskih tehnikah 2D in 3D izgleda.
Za tematiko primerjave 2D in 3D animacije smo se odločili zato, ker smo želeli študirati in se naučiti izdelave obeh ter hkrati raziskati, katera tehnika nam bi bila bolj všeč za nadaljnje osebne projekte.In this diploma, we investigated the differences in production and appearance between 2D and 3D animation. To determine the difference between them, we produced two animations: one in 2D and the other in 3D. In the theoretical part, we explained what animation is, the general principles of animation, and the differences between 2D and 3D animation. We also explained how they work today and the general differences between them. In the experimental part, we presented all the software we used for both animation production techniques. We worked from the same storyline and synopsis, so the stories of both animations were the same, while the production techniques differed. We divided the production of both animations into pre-production, production, and post-production, and showed the actual differences in terms of time and design. In pre-production, we described the creation of all references, sketches, and 3D models, and then showed the animation\u27s production using both techniques. Finally, we explained how we put all the pieces together in post-production. We drew all the references in Procreate on a tablet before we started modelling on the computer in Blender for 3D animation, and animated the 2D animation in Procreate and Procreate Dreams. We combined everything with the sound in DaVinci Resolve. The final product is two animations with the same story, but rendered in two different animation techniques: 2D and 3D.
We decided on the topic of comparing 2D and 3D animation because we wanted to learn how to make both and, at the same time, explore which technique we preferred for future personal projects
Comparative study of microstructural influence on corrosion resistance in conventional and Al-Mn quasicrystalline cast aluminum alloys
No full textThe investigation focused on the quasicrystalline aluminum alloy Al-Mn-Cu-Mg-Si-Ti. The influence of microstructure of aluminum alloy strengthened with quasicrystals on its corrosion resistance was studied. The properties of newly designed quasicrystalline aluminum alloy (QC) were compared to the properties of standard AlSi9Cu3 alloy (DIN 226). Both aluminum alloys (QC and AlSi9Cu3) were cast in a steel die with a controlled cooling rate. After the preparation of the samples, the microstructural characterization was carried out. In the quasicrystalline alloy, the microstructure was dominated by a primary phase with fivefold symmetry, representing the quasicrystalline phase. To investigate corrosion properties, open-circuit potential, linear polarization and potentiodynamic polarization measurements were performed. The influence of corrosion on mechanical properties was studied by conducting tensile tests on environmentally exposed alloys. It was concluded that the quasicrystalline alloy has comparable corrosion properties to the commercially widely used AlSi9Cu3 alloy. In the latter alloy, corrosion was observed to initiate in the vicinity of the AlCu intermetallic compound particles. In the case of the QC alloy, corrosion attacked mainly the α phase (matrix)
Search for lepton-flavor-violating decay modes with hadronic B tagging at Belle and Belle II
No full textWe present the first search for the lepton-flavor-violating decay modes using the 711 and 365 fb data samples recorded by the Belle and Belle II detectors, respectively. We use a hadronic -tagging technique to fully reconstruct a meson and search for signal decays in the system recoiling against the tagged meson, considering decays to either light leptons, one charged hadron, or one charged hadron and a neutral pion. We find no evidence for decays and set 90 % confidence level upper limits on the branching fractions in the range of [0.8,3.6] × 10
