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Citiranje strokovne literature v medicini: vancouvrski način citiranja
Get PDFA scientific text based on research is distinguished from other texts in that it consistently references the relevant sources. In this article, we take a closer look at the Vancouver reference style, as it is the one most commonly used in medicine and the health sciences. Presented are the most common examples of citing basic bibliographic information for papers in peer-reviewed journals, proceedings papers, monographs and information sources on the internet. Included are also basic guidelines for labelling, reproducing and citing tables and figures, along with examples. Modern tools for reference and citation editing are also briefly introduced as well as their functionalities.Strokovno besedilo, ki temelji na znanstvenoraziskovalnem delu, se od drugih besedil loči z doslednim sklicevanjem na ustrezne vire. V pričujočem prispevku si bomo podrobneje ogledali vancouvrski način citiranja, saj se ta slog sklicevanja najpogosteje uporablja v medicini in zdravstvenih vedah. Predstavljeni so najpogostejši primeri navajanja osnovnih bibliografskih podatkov prispevkov v strokovnih revijah, posamičnih prispevkov v zbornikih, navajanja monografij ter informacijskih virov na internetu. Podani so osnovni napotki za označevanje, reproduciranje in citiranje tabel in slik s primeri. Na kratko so predstavljena tudi sodobna orodja za urejanje referenc in citiranja z njihovimi funkcionalnostmi
Organizacija in analiza obravnav genomskih informatorjev na Onkološkem inštitutu Ljubljana v letu 2023
Get PDFIntroduction: In 2021, the role of genomic counsellor was introduced as a new profile in the Slovenian healthcare system, and likewise at the Institute of Oncology Ljubljana (IOL). In the triage process, clinical genetics specialists determine the number of genetic consultations performed by genomic counsellors, who usually provide counselling for patients who require genetic testing for treatment planning. Methods: We evaluated the data on referrals to genetic counselling and the genetic testing of patients referred to genomic counsellors in 2023. The data were obtained from the database of the Department of Clinical Cancer Genetics at OIL. Descriptive statistical methods and bivariate methods were used for analysing the correlation between variables. Results: In 2023, 2,200 pre-testing genetic counselling consultations were performed. Four genomic counsellors performed 30.4% (669/2.200) of all pre-test genetic counselling consultations. 662 out of 669 patients (i.e. 118 men and 551 women) opted for genetic testing. There were 323 (48%) urgent – fast–track listed patients. The test results of the fast–track listed group were received in 29 (±13) days after the first consultation. In 14.5% (96) of the patients tested a pathogenic/likely pathogenic variant (P/LPV) was identified. The most P/LPVs were found in BRCA1/2 genes (57.3%), followed by the ATM gene (14.6%) and CHEK2 gene (10.4%). Conclusion: Introducing a new profile, a registered nurse with special knowledge in genomic counselling, working as a genomic counsellor, is a successful method of ensuring timely patient care. The additional consultations have helped shorten the waiting times for genetic counselling performed by clinical genetics specialists and speed up the process of genetic treatment for patients.Izhodišče: V Sloveniji je od leta 2021 uveden nov profil v zdravstvu – genomski informator. Genomski informator/svetovalec na Onkološkem inštitutu Ljubljana (OIL) prevzema del genetskih posvetov, ki jih v sklopu triaže opredeli specialist klinične genetike. V veliki meri gre za prednostne napotitve bolnikov z rakom, pri katerih je genetski izvid pomemben za načrtovanje zdravljenja. Metode: Analizirali smo podatke o napotitvah na genetsko obravnavo v letu 2023 in genetskem testiranju bolnikov, ki so jih obravnavali genomski svetovalci. Podatke smo pridobili iz zbirke podatkov Oddelka za onkološko klinično genetiko OIL. Za pripravo analize smo uporabili deskriptivne statistične metode in bivariatne metode za analizo povezanosti spremenljivk. S pomočjo bivariatnih metod smo preučevali povezave med posameznimi spremenljivkami, kot so spol, starost in vrsta genetske obravnave, ter njihovo povezanost z rezultati genetskega testiranja, kar nam je omogočilo vpogled v morebitne vzorce ali odvisnosti med njimi. Rezultati: Leta 2023 so štirje genomski svetovalci od skupno 2200 opravljenih genetskih posvetov pred testiranjem, opravili 669 svetovanj, kar predstavlja 30,4 % vseh. Od 669 obravnavanih pacientov (118 moških in 551 žensk) se jih je 662 odločilo za genetsko testiranje. Glede na stopnjo nujnosti obravnave, ki jo je označil napotni zdravnik, je bilo največ obravnavanih pod prednostno, in sicer 323 (48 %). Genetski izvid smo pri prednostno napotenih v povprečju prejeli v 29 (± 13) dneh od datuma prvega posveta. Pri 14,5 % (96) testiranih pacientih je bila patogena/ verjetno patogena različica (PR/VPR) odkrita v vsaj enem od pregledanih genov. Največ PR/VPR je bilo odkritih v genih BRCA1/2 (57,3 %). Po pogostosti jim sledijo PR/VPR v genu ATM (14,6 %) in genu CHEK2 (10,4 %). Zaključek: Vpeljava diplomiranih medicinskih sester s specialnimi znanji na področju genomskega svetovanja se je izkazala kot učinkovita strategija za zagotavljanje pravočasne genetske obravnave. Medicinske sestre po dodatnem usposabljanju samostojno izvajajo prve genetske posvete, kar je prispevalo k skrajšanju čakalnih dob in hitrejši obravnavi pacientov. Z dodatnimi posveti smo razbremenili specialiste klinične genetike, kar je pripomoglo k hitrejši obravnavi pacientov, ki niso bili napoteni prednostno
Razvoj raziskav cirkulirajočih tumorskih celic pri raku dojk na Onkološkem inštitutu Ljubljana
Get PDFCirculating tumour cells (CTCs) have become an important biomarker in breast cancer, providing an insight into disease progression and monitoring of therapeutic response. Due to their extreme rarity in blood and the complexity of blood composition, their isolation and characterization is challenging. Specific isolation methods allow the enrichment of CTCs from a blood sample and facilitate further analysis. At the Institute of Oncology Ljubljana, in 2018 we initiated efforts to develop a simple method for the isolation and characterization of CTCs, aimed at identifying these cells through cytopathological analysis. We evaluated two different methods of CTC isolation in breast cancer patients based on different approaches. The first method is based on cell biological properties, such as the expression of the epithelial cell adhesion marker (EpCAM), while the second method is based on physical properties of CTCs, such as their larger size and deformability compared to other blood cells. We found that the physical method is more suitable, as it enables the isolation of higher numbers of morphologically intact CTCs. After isolation, cytological slides are prepared and then characterized by cytopathological analysis and immunocytochemical and immunofluorescence staining. This approach currently allows us to determine the number of single CTCs and CTC clusters in the blood, assess their morphological preservation, and identify their phenotype. In addition to evaluation of single CTCs and CTC clusters in ongoing clinical trials using currently established methods and the planned establishment of a translational platform in mouse models, we aim to expand the range of CTC studies in the future to include genomic and transcriptomic analysis.Cirkulirajoče tumorske celice (CTC) so postale pomemben biološki označevalec pri raku dojk, saj omogočajo vpogled v razvoj in napredovanje razsejane bolezni ter spremljanje odziva na zdravljenje. Zaradi njihove izjemne redkosti in kompleksnosti sestave krvi, v kateri se nahajajo, sta njihova izolacija in karakterizacija velik izziv. Posebne metode izolacije omogočajo obogatitev CTC iz vzorca krvi in olajšajo nadaljnjo analizo. Na Onkološkem inštitutu Ljubljana smo leta 2018 začeli s prvimi koraki v smeri razvoja preproste metode za izolacijo in karakterizacijo CTC, ki bi omogočala prepoznavanje teh celic s citopatološkimi analizami. Ocenili smo dve različni metodi izolacije CTC pri bolnicah z rakom dojk, ki temeljita na različnih pristopih. Prva metoda temelji na bioloških lastnostih celic, kot je izražanje epitelijskega označevalca celične adhezije (EpCAM), medtem ko druga metoda temelji na fizikalnih lastnostih CTC, kot sta večja velikost in stisljivost v primerjavi z drugimi krvnimi celicami. Ugotovili smo, da je fizikalna metoda primernejša, saj omogoča izolacijo večjega števila morfološko ohranjenih CTC in tudi skupkov CTC. Po izolaciji pripravimo citološke preparate, ki jih nato opredelimo s citopatološko analizo in dodatnimi imunocitokemičnimi ter imunofluorescenčnimi barvanji. Na ta način lahko trenutno določimo število CTC in skupkov CTC v krvi, ocenimo njihovo morfološko ohranjenost ter prepoznamo njihov fenotip. Poleg preučevanja vzorcev posamičnih CTC in skupkov CTC v okviru trenutno potekajočih kliničnih raziskav in načrtovane vzpostavitve translacijske platforme na mišjih modelih, pa v prihodnosti želimo nabor raziskav CTC še razširiti na genomsko in transkriptomsko analizo
Rak neznanega izvora: nas izvor bolezni še zanima?
Get PDFCancer of unknown primary (CUP) is defined as a carcinoma or undifferentiated neoplasm in which a standardized diagnostic workup fails to identify the primary tumour responsible for metastatic seeding. Survival after diagnosis of CUP remains poor and has not improved significantly over time. Traditionally, CUP has been divided into two subsets, with only about 15% of cases in the favourable subset. The vast majority of patients are in the unfavourable subset and present with a high metastatic burden at first presentation. Their treatment options are limited and outcomes for patients treated with empiric chemotherapy consisting of platinumor taxane-based doublets remain poor, with median overall survival of less than 10 months. Best supportive care remains the best treatment option for many patients. Some novel approaches to the treatment of patients with CUP are promising and represent a fundamental shift in the paradigm of cancer treatment from organ/tissue-specific to individual patient-focused treatment based on tumour-specific genomic alterations. This paper summarizes the current evidence on the application of each of these approaches. The treatment of three clinical cases with unfavourable CUP using novel approaches is presented.Rak neznanega izvora (RNI) je opredeljen kot karcinom ali nediferencirana neoplazma, pri kateri z naborom standardnih diagnostičnih postopkov ni mogoče odkriti izvornega mesta bolezni. Tradicionalno RNI delimo v dve podskupini, pri čemer le približno 15 % primerov predstavlja prognostično ugodno skupino. Velika večina bolnikov spada v prognostično neugodno skupino in ima ob prvi prezentaciji obsežno breme bolezni. Možnosti zdravljenja so omejene, izidi bolnikov, zdravljenih z empirično kemoterapijo (KT) s platino ali taksani, pa so še vedno slabi, srednje celokupno preživetje je manj kot 10 mesecev. Za mnoge bolnike ostaja optimalna izbira najboljše možno podporno zdravljenje. Novi pristopi k obravnavi teh bolnikov se zdijo obetavni in so temeljit premik v paradigmi zdravljenja RNI; od zdravljenja, specifičnega za organ/tkivo, k zdravljenju, usmerjenemu na posameznega bolnika, ki temelji na genomskih spremembah njegovega tumorja. Prispevek povzema trenutne dokaze o uporabi vsakega od teh pristopov. Predstavljeno je tudi zdravljenje treh bolnikov z neugodnim RNI
Obsevanje benignih bolezni
Get PDFRadiation therapy for benign disease aims to restore function and can improve quality of life. Irradiation for benign conditions is usually performed with a low daily and total radiation dose and a lower number of treatment fractions (compared to the dose used for malignant diseases). With modern radiation therapy, the risk of damaging healthy tissue is minimal. The radiation is directed precisely to the affected area so that healthy tissue is spared. Radiation therapy for benign diseases is safe and effective. However, it is crucial to recognize the disadvantages of radiation therapy. It is also always essential to evaluate if the benefits of radiation outweigh the potential negative effects.Cilja zdravljenja z obsevanjem benignih bolezni sta povrnitev funkcije in izboljšanje kakovosti življenja. Obsevanje benignih bolezni se običajno izvaja z nizko dnevno in celokupno obsevalno dozo. V primerjavi z dozo, ki se jo uporablja za zdravljenje malignih obolenj, je doza tukaj navadno precej nižja. S sodobnimi obsevalnimi tehnikami, ki se uporabljajo v radioterapiji v zadnjem desetletju, je tveganje za poškodbe zdravega tkiva majhno. Z natančnim načrtovanjem obsevanja se žarki usmerijo na prizadeto območje, kar omogoča ohranitev zdravih tkiv. Obsevanje je tako varno in učinkovito, a je treba kljub temu vedno oceniti, kdaj je dobrobit obsevanja večja od morebitnih neželenih učinkov
Kaskadno genetsko testiranje v družinah s sindromom Lynch
Get PDFIntroduction: Lynch syndrome (LS) is the most common form of inherited genetic predisposition to colorectal cancer (CRC). LS is caused by a germline pathogenic/likely pathogenic variant (P/ LPV) in one of the mismatch repairs (MMR). Since LS is linked to an increased risk of cancer, it is crucial to test both individuals and their family members (cascade testing). Methods: We performed the analysis of data from the Department of Clinical Cancer Genetics, the Institute of Oncology Ljubljana, i.e. the information on individuals suspected of LS who were referred for genetic counselling between 01/01/2007 and 31/12/2023. The research was conducted using descriptive statistical methods. Results: A total of 246 individuals from 97 LS-positive families were referred for genetic counselling in 17 years. 170 individuals tested positive, representing 69.1% of all individuals tested. 157 family members from 54 families (55.7%) participated in cascade testing. There were 100 women (63.7%) and 57 men (36.3%). In families where the relatives opted for cascade testing, 90 individuals (57.3%) responded within 12 months after the positive result had been disclosed to the first individual tested. On average, 1.6 blood relatives per family participated in presymptomatic testing. In 54 families where relatives opted for testing, the average number of those who decided to test was 2.9 relatives per family. Conclusion: Cascade genetic testing is a successful systematic method for providing genetic testing to blood relatives of P/LPV carriers. In the case of LS, 55.7% of positive families had at least one blood relative opting for cascade testing. In families where relatives underwent cascade testing, an average of nearly three relatives participated, with almost 60% responding within 12 months.Izhodišče: Sindrom Lynch (LS) je najpogostejša oblika podedovane genetske predispozicije za raka debelega črevesa in danke (RDČD). Prisotnost LS je posledica zarodne patogene različice/verjetno patogene različice (PR/VPR) v enem od genov popravljanja neujemanja baznih parov (MMR). Ker je LS povezan s povečano ogroženostjo za raka, je pomembno testirati tako posvetovance kot njihove družinske člane (kaskadno testiranje). Metode: Na Oddelku za onkološko klinično genetiko Onkološkega inštituta Ljubljana (OIL) smo opravili analizo podatkov, ki smo jih pridobili iz podatkovne zbirke oddelka. Analizirali smo podatke napotenih na genetsko svetovanje v obdobju od 1. 1. 2007 do 31. 12. 2023, pri katerih je obstajal sum na prisotnost LS. Pri tem smo uporabili deskriptivne statistične metode. Rezultati: Na genetsko svetovanje je bilo zaradi ugotovljene različice v enem od genov, ki jih povezujemo z LS, v 17-letnem obdobju, napotenih 246 posameznikov iz 97 pozitivnih LS družin. Od tega je bilo pozitivnih 170 posameznikov, kar predstavlja 69,1 % vseh testiranih. Kaskadnega testiranja se je udeležilo 157 družinskih članov iz 54 družin (55,7 % glede na vse pozitivne družine), in sicer 100 žensk (63,7 %) in 57 moških (36,3 %). 90 posameznikov (57,3 %) se je odzvalo v roku 12 mesecev od razkritja rezultata prvemu testiranemu. Povprečno število krvnih sorodnikov na družino, ki so se odločili za predsimptomatsko testiranje, je bilo 1,6. Če odštejemo družine, v katerih se ni javil nihče od svojcev, pa znaša to število povprečno 2,9 svojca na družino. Zaključek: Kaskadno genetsko testiranje je uspešen sistematični proces zagotavljanja genetskega testiranja krvnih sorodnikov nosilcev PR/VPR. V primeru LS se je pri 55,7 % pozitivnih družin za kaskadno testiranje odločil vsaj en krvni sorodnik. V družinah, v katerih so sorodniki prišli na kaskadno genetsko testiranje, so v povprečju prišli skoraj trije – skoraj 60 % v enem letu
Klinično raziskovanje v onkologiji: slovenski učbenik za študente medicine in specializante onkologije (urednika Erika Matos, Boštjan Šeruga)
No full textČrevesni mikrobiom pri bolnikih z rakom
Get PDFThe gut microbiome represents the genetic makeup of all the microbes in the human digestive tract. It contains about 38 trillion microorganisms with more than three million genes. The development of new sequencing techniques has made possible in-depth research of the human microbiome, which is involved in the metabolism of nutrients, and drugs, maintains a barrier of the intestinal mucosa, protects against pathogenic microorganisms, and can alter the host's immune response. There is compounding evidence that the microbiome is involved in the development of certain malignant diseases and affects the effectiveness of oncological treatment, specifically immunotherapy. Currently, the understanding of the numerous complex interactions between the gut microbiome, the host immune system, diet, drugs, and malignant cells is based on smaller retrospective and observational studies. This paper aims to review the available data on the microbiome and our current understanding of the role of the human microbiome in cancer patients.Črevesni mikrobiom predstavlja genetsko zasnovo vseh mikrobov, ki obstajajo v človeškem prebavnem traktu in vsebuje približno 38 bilijonov mikroorganizmov, ki kodira več kot tri milijone genov. Razvoj novih tehnik molekularnega sekvenciranja je omogočil poglobljeno raziskovanje človeškega mikrobioma, ki je vpleten v presnovo hranil, zdravil, vzdržuje celovito bariero črevesne sluznice, varuje pred patogenimi mikroorganizmi in lahko spreminja imunski odziv gostitelja. Vse več je dokazov, da je črevesni mikrobiom vpleten v razvoj nekaterih malignih bolezni in vpliva na učinkovitost onkološkega zdravljenja, predvsem na imunoterapijo. Sedanje razumevanje številnih zapletenih interakcij med črevesnim mikrobiomom, gostiteljevim imunskim sistemom, prehrano, zdravili in malignimi celicami temelji na manjših retrospektivnih in opazovalnih raziskavah. Namen tega prispevka je pregled razpoložljivih podatkov o mikrobiomu in naše dosedanje razumevanje vloge črevesnega mikrobioma pri bolnikih z rakom
Imunohistokemična analiza izražanja glukokortikoidnih receptorjev pri zgodnjem raku dojk in njihov vpliv na odgovor na zdravljenje z neoadjuvantno sistemsko terapijo
Get PDFBackground: The glucocorticoid receptor (GR) is differentially expressed on tumour and immune cells in breast cancer, and its expression may depend on the molecular subtype of the cancer, and it may also influence the response to neoadjuvant systemic therapy. Our primary aim is to introduce reliable immunohistochemical staining with anti-GR antibodies, and our second aim is to evaluate the expression of GR in breast cancer samples and to study whether it is expressed differently in different subtypes and whether its expression has an impact on the response to neoadjuvant systemic therapy. Methods: In the preclinical part of the research, we selected a reliable antibody against GR, and then we calibrated and validated the immunohistochemical staining procedure with the selected antibody. In the clinical part of the research, we evaluated the expression of GR on tumour and immune cells in breast cancer. Samples from 162 patients were selected prospectively as part of the AKRA study, which took place at the Institute of Oncology Ljubljana, and later analysed. We also obtained data on the associated tumour. Results: We introduced reliable immunohistochemical staining with antibodies against GR and evaluated its expression on tumour and immune cells. On tumour cells, GR was positive in the triple- -negative subtype in 93.5%, in the HER2-positive subtype in 88.4% and in the luminal B subtype in 87.5%; the difference between the subtypes was not statistically significant (p = 0.746). A complete pathological response to neoadjuvant systemic therapy was present in the case of positive GR in 31.8%, and in the case of negative GR in 22.2%, which was also not statistically significantly different (p = 0.589). Expression on immune cells was present in all samples on ≥ 80% cells with an intensity level of 3, so we did not analyse these results. Conclusions: We successfully introduced immunohistochemical staining for glucocorticoid receptor and evaluated its expression on the samples, but we failed to demonstrate the association of GR expression with subtypes and response to neoadjuvant systemic therapy.Izhodišča: Glukokortikoidni receptor (GR) je različno izražen na tumorskih in imunskih celicah raka dojk, njegova izraženost pa je morda odvisna od molekularnega podtipa raka dojk, prav tako njegova izraženost morda vpliva na odgovor na neoadjuvantno sistemsko terapijo. Naš namen je vpeljati zanesljivo imunohistokemično barvanje s protitelesi proti GR, drugi namen pa je oceniti izraženost GR na vzorcih raka dojk in preučiti, ali se ta izraža različno pri različnih podtipih in ali njegova izraženost vpliva na odgovor na neoadjuvantno sistemsko terapijo. Metode: V predkliničnem delu raziskave smo izbrali zanesljivo protitelo proti GR, postopek imunohistokemičnega barvanja z izbranim protitelesom pa kalibrirali in validirali. V kliničnem delu raziskave smo ocenili izraženost GR na tumorskih in imunskih celicah pri raku dojk. Vzorci 162 bolnic so bili izbrani prospektivno v okviru raziskave AKRA, ki je potekala na Onkološkem inštitutu Ljubljana, in pozneje analizirani. Pridobili smo še podatke o pripadajočem tumorju. Rezultati: Uvedli smo zanesljivo imunohistokemično barvanje s protitelesi proti GR in na vzorcih ocenili njegovo izraženost na tumorskih in imunskih celicah. Na tumorskih celicah so bili GR pozitivni pri trojno negativnem podtipu v 93,5 %, pri HER-2 pozitivnem podtipu pri 88,4 % in pri luminalnem B podtipu v 87,5 %, razlika med podtipi ni bila statistično značilna (p = 0,746). Kompletni patološki odgovor na neoadjuvantno sistemsko terapijo je bil prisoten v primeru pozitivnih GR v 31,8 %, v primeru negativnih GR pa v 22,2 %, kar prav tako ni bilo statistično značilno različno (p = 0,589). Izraženost na imunskih celicah je bila prisotna v vseh vzorcih na ≥ 80 % celic s stopnjo intenzitete 3, zato teh rezultatov nismo analizirali. Zaključki: Uspešno smo uvedli imunohistokemično barvanje na GR, ocenili njegovo izraženost na vzorcih, vendar nismo uspeli dokazati povezanosti njegove izraženosti s podtipi in odgovorom na neoadjuvantno sistemsko terapijo
Psihoonkologija kot del celostne obravnave bolnikov z rakom
Get PDFWhen healthcare professionals interact with cancer patients and their families at various stages of their treatment, we also encounter their distress, which is described on a continuum from expectable and transient distress to profound, long-lasting distress that impairs the individual's ability to function and fulfils the criteria for a mental disorder. Through good communication, empathetic support, coping with physical problems, and information, we can significantly support the patient's sources of strength in coping with cancer. It is also important to recognize the patient's level of distress and, if necessary, administer medication and refer them to appropriate support services. A patient who is experiencing severe distress or has a mental health disorder may find it more difficult to participate in communication with healthcare professionals and to cope with the symptoms of physical illness and the side effects of treatment, which may indirectly influence the outcome of treatment for a malignancy.Ko zdravstveni delavci stopamo v odnose z bolniki z rakom in njihovimi svojci v različnih obdobjih zdravljenja, se srečujemo tudi z njihovo stisko, ki jo opisujemo na kontinuumu – od pričakovane in prehodne stiske do stiske, ki je globoka, dolgotrajna ter ovira posameznikovo delovanje ter dosega kriterije duševne motnje. Z dobro komunikacijo, empatično podporo, obvladovanjem telesnih težav in informiranjem lahko pomembno podpremo bolnikove lastne vire moči za spoprijemanje z rakom. Prav tako je pomembna vloga prepoznavanja njihove stiske ter po potrebi uvedba zdravil in napotitev v ustrezno vrsto pomoči. Bolnik v hujši stiski ali z duševno motnjo lahko težje sodeluje v komunikaciji z zdravstvenim osebjem in se težje spoprijema s simptomi telesne bolezni in stranskimi učinki zdravljenja; njeno obvladovanje lahko posredno vpliva tudi na izhod zdravljenja maligne bolezni