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Seawater quality and the presence of Staphylococcus aureus on selected Rijeka beaches
No full textKakvoća morske vode u Republici Hrvatskoj ima izniman javnozdravstveni značaj, osobito tijekom turističke sezone. Sustavno praćenje provodi se u skladu s Uredbom o kakvoći mora za kupanje (NN 73/2008), koja je usklađena s Direktivom 2006/7/EZ Europske unije. U okviru ovog diplomskog rada provedena je analiza mikrobioloških pokazatelja kvalitete morske vode na četiri riječke plaže (Kantrida, 3. maj, Nogometno igralište i Ploče) tijekom tri sezone kupanja (2021.–2023.), na ukupno 12 mjernih točaka. Uzorci su prikupljani tjedno te su analizirani fizikalno-kemijski parametri (temperatura zraka, temperatura mora, salinitet) i mikrobiološki pokazatelji (Escherichia coli, crijevni enterokoki, Staphylococcus aureus, Pseudomonas aeruginosa, Clostridium perfringens, UBB22 i UBB37). Poseban naglasak stavljen je na prisutnost bakterije Staphylococcus aureus, koja nije uključena u važeću zakonsku regulativu, ali sve češće ulazi u znanstvenu raspravu kao potencijalni pokazatelj antropogenog onečišćenja. Ukupno je analizirano 900 uzoraka, pri čemu je S. aureus detektiran u 17 % slučajeva, s najvećom učestalošću na plaži Kantrida. Veća prisutnost zabilježena je u jutarnjim terminima, uključujući i uzorke ocijenjene kao „izvrsne“. Većina uzoraka (64 %) svrstana je u kategoriju izvrsne kakvoće, dok su preostali raspoređeni u kategorije dobra, zadovoljavajuća i nezadovoljavajuća. Statističkom obradom potvrđene su prostorne i vremenske razlike u prisutnosti mikroorganizama te su uočene korelacije između fizikalno-kemijskih i mikrobioloških parametara, osobito između saliniteta i prisutnosti fekalnih pokazatelja. Rezultati rada ukazuju na kompleksnost ocjene sanitarne ispravnosti morske vode te doprinose raspravi o mogućnosti proširenja skupa mikrobioloških parametara u sustavu monitoringa.Bathing water quality in the Republic of Croatia is of great public health importance, particularly during the summer tourist season. The monitoring system is implemented in accordance with the Regulation on Bathing Water Quality (NN 73/2008), which aligns with the Directive 2006/7/EC of the European Parliament and Council. This thesis presents an analysis of microbiological indicators of seawater quality at four urban beaches in the city of Rijeka (Kantrida, 3. maj, Nogometno igralište, and Ploče) over three consecutive bathing seasons (2021–2023), across a total of 12 sampling points. Samples were collected weekly and analyzed for physical-chemical parameters (air and sea temperature, salinity) and microbiological indicators: Escherichia coli, intestinal enterococci, Staphylococcus aureus, Pseudomonas aeruginosa, Clostridium perfringens, and total heterotrophic bacteria (UBB22 and UBB37). Special attention was given to Staphylococcus aureus, a bacterium not currently included in legal monitoring frameworks but increasingly discussed in the scientific community as a potential indicator of anthropogenic contamination. A total of 900 samples were analyzed, with S. aureus detected in 17 % of them, most frequently at the Kantrida beach. Higher detection rates were recorded in morning sampling sessions, even among samples rated as "excellent." Overall, 64 % of all samples were categorized as having excellent bathing water quality, while the remainder were classified as good, sufficient, or poor. Statistical analysis confirmed spatial and temporal variability in microbiological contamination, as well as correlations between physical-chemical and microbiological parameters-particularly a negative correlation between salinity and fecal indicators. The results highlight the complexity of assessing bathing water quality and support the ongoing discussion on expanding the set of microbiological indicators used in routine monitoring programs
The role of pharmacogenetics in preventing the toxicity and side effects of nonsteroidal anti-inflammatory drugs
No full textNesteroidni protuupalni lijekovi široko su primjenjivani u liječenju boli, upale i povišene temperature. Iako su djelotvorni, njihova primjena može biti povezana s nuspojavama, osobito kod dugotrajne primjene i u rizičnim skupinama. U ovom preglednom radu poseban je naglasak stavljen na ulogu farmakogenetike, s fokusom na varijante enzima CYP2C9 koje značajno utječu na metabolizam određenih nesteroidnih protuupalnih lijekova, poput piroksikama, meloksikama, celekoksiba i ibuprofena.
Analizom dostupne literature prikazano je kako se prisutnost alela *2 i *3 može odraziti na farmakokinetiku i sigurnost terapije, a u skladu s tim razvijene su smjernice za prilagodbu doze ili izbor alternativnog lijeka. U radu su također istaknuti lijekovi čiji metabolizam ne ovisi o CYP2C9, poput naproksena i ketoprofena, kao potencijalno sigurnije opcije za pacijente s nepovoljnim genotipom.
Osim genetskih čimbenika, u obzir su uzeti i drugi aspekti personalizacije terapije, uključujući dob, spol, komorbiditete i politerapiju. Na temelju svega navedenog, naglašava se važnost integriranog pristupa koji povezuje farmakogenetiku s kliničkim podacima pacijenta, u svrhu optimizacije terapije i smanjenja nuspojava.Nonsteroidal anti-inflammatory drugs (NSAIDs) are widely used in the treatment of pain, inflammation, and fever. Although effective, their use may be associated with adverse effects, particularly with long-term use and in high-risk populations. This review places a particular emphasis on the role of pharmacogenetics, focusing on variants of the CYP2C9 enzyme that significantly affect the metabolism of certain NSAIDs, such as piroxicam, meloxicam, celecoxib, and ibuprofen.
An analysis of the available literature demonstrates how the presence of the *2 and *3 alleles can impact the pharmacokinetics and safety of therapy. Accordingly, guidelines have been developed for dose adjustment or the selection of alternative drugs. The paper also highlights medications whose metabolism is not dependent on CYP2C9, such as naproxen and ketoprofen, as potentially safer options for patients with unfavourable genotypes.
In addition to genetic factors, other aspects of therapy personalization were considered, including age, sex, comorbidities, and polypharmacy. Based on the findings, this review underscores the importance of an integrated approach that combines pharmacogenetics with clinical data to optimize therapy and reduce adverse effects
Clinical approach to a child with serious airway obstruction : graduation thesis
No full textChildren are not simply small adults; rather, they are continuously growing and developing individuals who undergo significant changes each day. As they grow and develop, they explore their environment using all their senses, particularly their mouths. This behavior increases the risk of foreign body ingestion, which may lead to airway obstructions. Respiratory distress can result from obstruction of the upper airway due to larger objects and lower airway obstructions due to smaller ones. However, not all airway obstructions are caused by foreign bodies. Congenital conditions and unique anatomical characteristics, such as a proportionally larger tongue in a smaller oropharynx, may also lead to obstruction. Allergic reactions, including anaphylactic shock, can further result in respiratory distress and cyanosis. In cases of airway obstruction, healthcare professionals follow a structured approach that includes imaging techniques such as ultrasound, X-ray, or MRI. Bronchoscopy is a procedure used for both diagnosis and treatment. Medications like corticosteroids and antihistamines are administered for allergic reactions, while salbutamol is used in asthma cases. In more severe or life-threatening situations, intubation or surgery may be necessary to secure the airway and prevent suffocation
The role of PET/CT in colorectal cancer diagnosis
No full textKolorektalni karcinom (CRC) postaje sve veći javnozdravstveni problem širom svijeta. Jedan je od vodećih uzroka morbiditeta i mortaliteta povezanih s malignim bolestima. Kolorektalni karcinom često je sporadičan i povezan s čimbenicima rizika kao što su dob, spol, rasa, prehrana i životne navike, no postoje i nasljedni oblici bolesti. Rano otkrivanje i točno određivanje stadija bolesti ključni su za planiranje optimalnih strategija liječenja, koje mogu uključivati operaciju, kemoterapiju, radioterapiju, ciljanu molekularnu terapiju i imunoterapiju. Dijagnostičke pretrage imaju važnu ulogu u postavljanju dijagnoze, utvrđivanju stadija i praćenju pacijenata oboljelih od CRC-a. Prema smjernicama, glavnu ulogu ima standardna kolonoskopija dopunjena različitim dostupnim dijagnostičkim modalitetima; kompjutoriziranom tomografijom (CT-om) i magnetskom rezonancom (MR-om). Uloga pozitronske emisijske tomografije s kompjutoriziranom tomografijom (PET/CT) još nije jasno definirana u svjetskim smjernicama, no svakako predstavlja važan dijagnostički postupak u onkologiji. U slučaju kolorektalnog karcinoma, 18F-FDG PET/CT je važna metoda dijagnostičke procjene. Fluorodeoksiglukoza (FDG) je analog glukoze koji se nakuplja u metabolički aktivnim tkivima, uključujući i tumorske stanice, omogućujući stvaranje funkcionalne slike koja nadopunjuje anatomske informacije dobivene CT-om. 18F-FDG PET/CT je važan dijagnostički modalitet u procjeni proširenosti bolesti, otkrivanju udaljenih metastaza, praćenju učinka liječenja i prognoze bolesti, planiranju daljnjih terapijskih protokola te sveukupnom praćenju pacijenata s malignom bolešću. Unatoč svojim prednostima, 18F-FDG PET/CT ima i neke nedostatke. Lažno negativni i lažno pozitivni nalazi mogu biti rezultat brojnih fizioloških i benignih patoloških stanja što predstavlja izazov u interpretaciji nalaza i može dovesti do pogrešne dijagnoze.Colorectal carcinoma (CRC) is an increasingly significant public health issue worldwide. It is one of the leading causes of morbidity and mortality related to malignant diseases. Colorectal carcinoma is often sporadic and associated with risk factors such as age, gender, race, diet, and lifestyle habits, although hereditary forms of the disease also exist. Early detection and accurate staging of the disease are crucial for planning optimal treatment strategies, which may include surgery, chemotherapy, radiotherapy, targeted molecular therapy, and immunotherapy. Diagnostic procedures play a significant role in establishing diagnosis, staging, and monitoring patients with CRC. According to current guidelines, colonoscopy remains the gold standard, supported by various available imaging modalities-computed tomography (CT) and magnetic resonance imaging (MRI). The role of positron emission tomography with computed tomography (PET/CT) in CRC is not yet clearly defined in international guidelines, but it is nevertheless considered a valuable diagnostic tool in oncology. In colorectal carcinoma, 18F-FDG PET/CT is an important diagnostic assessment method. Fluorodeoxyglucose (FDG) is a glucose analog that accumulates in metabolically active tissues, including tumor cells, enabling the generation of functional images that complement the anatomical information obtained from CT. 18F-FDG PET/CT is a significant diagnostic modality for evaluating disease extent, detecting distant metastases, monitoring treatment response and disease prognosis, planning further therapeutic protocols, and conducting comprehensive follow-up of cancer patients. Despite its advantages, 18F-FDG PET/CT has certain limitations. False-negative and false-positive results may occur due to various physiological, benign pathological conditions, which can pose challenges in interpretation and potentially lead to diagnostic errors
Analysis of Children Treated for Leukemia at Clinical Hospital Center Rijeka: A Retrospective Study
No full textCilj: Cilj ovog istraživanja bio je analizirati kliničke, laboratorijske i citogenetske značajke djece oboljele od leukemije liječene u Kliničkom bolničkom centru Rijeka u razdoblju od 2014. do 2024. godine.
Metode: Provedeno je retrospektivno kohortno istraživanje koje je obuhvatilo 42 ispitanika u dobi od rođenja do 18 godina. Prikupljeni su podaci o dobi, spolu, simptomima, laboratorijskim nalazima i citogenetskim obilježjima. Statistička analiza uključivala je deskriptivne mjere, χ2 test i Fisherov egzaktan test, pri čemu je razina značajnosti bila postavljena na p ≤ 0,05.
Rezultati: Najčešće dijagnosticirana bila je akutna limfoblastična leukemija (ALL), i to B- stanični podtip (B-ALL) koji je činio 94,6 % svih ALL slučajeva. Akutna mijeloična leukemija (AML) i kronična mijeloična leukemija (CML) bile su rijetke. Najčešći simptomi bili su vrućica (76,2 %) i bol u natkoljenicama (23,8 %). Citogenetski, najzastupljeniji su bili hiperdiploidni klon i translokacija t(12;21)/ETV6::RUNX1. Niti jedna analizirana varijabla nije bila statistički značajna (p > 0,05), što se može pripisati malom uzorku.
Zaključak: Rezultati potvrđuju poznate obrasce učestalosti i kliničke slike pedijatrijskih leukemija, s dominacijom B-ALL-a. Nedostatak statistički značajnih razlika ukazuje na potrebu za većim uzorcima u budućim istraživanjima. Ovi nalazi doprinose boljem razumijevanju lokalne pojavnosti leukemije i mogu služiti kao temelj za dodatne kliničke i epidemiološka istraživanja.Objective: The aim of this study was to analyse the clinical, laboratory, and cytogenetic features of paediatric leukemia patients treated at the Clinical Hospital Centre Rijeka between 2014 and 2024.
Methods: This retrospective cohort study included 42 patients under the age of 18. Data on age, sex, symptoms, laboratory findings, and cytogenetic characteristics were collected. Statistical analysis included descriptive statistics, chi-square test, and Fisher’s exact test, with significance set at p ≤ 0.05.
Results: Acute lymphoblastic leukemia (ALL) was the most frequently diagnosed type, with B-cell ALL (B-ALL) accounting for 94.6% of ALL cases. Acute myeloid leukemia (AML) and chronic myeloid leukemia (CML) were rare. The most common clinical symptoms were fever (76.2%) and thigh pain (23.8%). Cytogenetically, hyperdiploidy and the t(12;21)/ETV6::RUNX1 translocation were the most prevalent. No variable reached statistical significance (p > 0.05), which may be attributed to the small sample size.
Conclusion: The findings align with known epidemiological patterns of paediatric leukemias, highlighting the predominance of B-ALL. The lack of statistically significant differences underscores the need for larger-scale, multicentre studies. These results contribute to a better understanding of the local leukemia profile and can serve as a basis for further clinical and epidemiological research
Rizični čimbenici majke u nastanku prirođenih srčanih grešaka u Downovom sindromu : završni rad
No full textCilj: Prirođene greške srca najučestalije su malformacije unutarnjih organa koje se javljaju u Downovom sindromu. Etiologija je složena i još uvijek nedovoljno razjašnjena, istraživanja su usmjerena na rizične čimbenike majke kako genetičke tako i okolišne sa svrhom razjašnjenja nastanka istih. Cilj rada bio je ispitati predstavljaju li polimorfizam rs2424913 DNMT3B gena majke, dob i pušenje prije trudnoće rizične čimbenike za nastanak prirođenih srčanih grešaka kod njihove djece s Downovim sindromom.
Ispitanici i metode: U istraživanju je sudjelovalo 155 majki koje su rodile dijete s Downovim sindromom, od kojih su 75 imale dijete s prirođenom srčanom greškom, a 80 nije imalo dijete s prirođenom srčanom greškom. Genotipizacija rs2424913 DNMT3B provedena je PCR-RFLP metodom. Podaci o dobi i pušenju prikupljeni su anketnim upitnicima, a statistička obrada uključivala je χ² test i izračun omjera izgleda (OR).
Rezultati: Nije utvrđena statistički značajna razlika u distribuciji genotipova rs2424913 DNMT3B između majki djece s Downovim sindromom i prirođenom srčanom greškom i onih bez prirođene srčane greške (p > 0,05). Srednja dob majki koje čije djete nema prirođenu srčanu grešku je 32,75±5,74, a majki čije djete ima je 31,37±6,13 (p > 0,05). Povezanost između pušenja prije trudnoće i pojave prirođenih srčanih grešaka pokazala je graničnu statističku značajnost (p < 0,05), osobito među mlađim majkama. Ne postoji povezanost između kombinacije genotipova majki i pušenja prije trudnoće, s nastankom prirođenih srčanih grešaka u njihove djece s Downovim sindromom.
Zaključak: Polimorfizam rs2424913 DNMT3B gena majke nije rizični čimbenik za razvoj prirođenih srčanih grešaka kod njihove djece s Downovim sindromom, dok je pušenje majke prije trudnoće potencijalni okolišni čimbenik osobito u mlađih majki.Objective: Congenital heart defects are the most common internal organ malformations observed in Down syndrome. Although their etiology is complex and not yet fully understood, genetic and environmental factors that may contribute to their development are increasingly being investigated. The aim of this study was to investigate whether the maternal rs2424913 DNMT3B gene polymorphism, age and smoking before pregnancy represent risk factors for the occurrence of congenital heart defects in children with Down syndrome.
Patients and Methods: The study included 155 mothers who had given birth to a child with Down syndrome; of these, 75 had a child with a congenital heart defect, and 80 had a child without such a defect. Genetic analysis of the rs2424913 DNMT3B polymorphism was performed using PCR-RFLP method. Data on age and smoking were collected via questionnaires, and statistical analysis included the χ² test and calculation of odds ratios (OR).
Results: There was no statistically significant difference in the distribution of rs2424913 DNMT3B genotypes between mothers of children with Down syndrome and congenital heart defects and those without congenital heart defects (p > 0.05). The mean age of mothers whose child does not have a congenital heart defect was 32.75 ± 5.74 years, while the mean age of mothers whose child does have a defect was 31.37 ± 6.13 years (p > 0.05). The association between smoking before pregnancy and the occurrence of congenital heart defects showed borderline statistical significance (p < 0.05), particularly among younger mothers. There was no association between the combination of maternal genotypes and smoking before pregnancy with the occurrence of congenital heart defects in their children with Down syndrome.
Conclusion: The maternal rs2424913 DNMT3B polymorphism was a significant risk factor for the development of congenital heart defects in children with Down syndrome. However, smoking before pregnancy may represent a potential environmental risk factor among younger mothers
New anti-obesity medications on the horizon : Exploring the potential of next generation medications
No full textObesity is a chronic metabolic disease which number is increasing and causing an epidemic problem all around the world. Obesity increases risks for cardiovascular diseases, T2D, non-fatty liver diseases and several types of cancer leading to an increased morbidity and mortality. Besides lifestyle changes and bariatric surgery’s, pharmacological treatment of individuals suffering from obesity are being integrated in the treatment plan.
The aim of this thesis was to better understand which drugs act on certain receptors, their mechanism of action, which positive or negative effects they induce and their effect on known comorbidities related to obesity like T2D, cardiovascular diseases or metabolic diseases.
Marked approved drugs are orlistat, phentermine-topiramate, and the combination of naltrexone-bupropion, which work through different mechanism such as inhibition of fat absorption or appetite suppression. Newer approved anti-obesity medications target the gut and pancreatic hormones. They include GLP-1, GIP, glucagon and amylin which are showing a higher efficiency in weight loss and metabolic benefits. GLP-1 receptor agonists are now widely used in therapies, with Semaglutide existing as an oral form. Tirzepatide is the newest approved drug acting on GLP-1 receptor and GIP receptor which shows high efficacy, meanwhile they can cause gastrointestinal side effects.
Developing anti-obesity drugs focus on the combination between gut and pancreatic hormones, such as GLP-1, GIP, glucagon, amylin and PYY. Several drugs are in advanced clinical trials presenting with promising results for weight reduction and metabolic improvements. New therapies include dual and triple agonists like Survodutide, Retatrutide, and Cagrisema, as well as non-peptide-GLP-1 receptor agonists like Orforglipron and Danuglipron, which offer oral alternatives to injectable treatments. Additional approaches include human monoclonal antibodies and cytokine-based drugs.
Current guidelines for obesity treatment highlights personalised and stepwise approach which doesn’t just take the BMI in consideration but although waist circumference using the Adiposity-Based Chronic Disease model. Treatments options of pharmacotherapy should be individualised biased on comorbidities, side effects, access and patient's preferences.
Nevertheless, challenges like accessibility, long term effect, side effects and affordability remain obstacles which need to be faced in the future
Clinical strategies for managing acute intermittent porphyria : biochemical insights in targeting pain pathways and implementing them into clinical practice
No full textThis paper investigates clinical strategies for management and therapy of acute intermittent porphyria using a biochemical approach to understand and utilize the pathophysiology of the disease in special regard to its pain symptoms and pain pathways. Specifically, the thesis focuses on the toxicity of ALA (alpha aminolevulinic acid) as well as the biochemical implications of AIP regarding the heme biosynthesis disruption. Furthermore, literature regarding several treatment options with novel approaches were reviewed to connect and bridge the intricate pain pathophysiology of AIP with modern strategies of treatment. In exact, the genesis of several metabolic implications of AIP were explored. Studies regarding the interaction of the glucose metabolism and its connection to ALAS (alpha aminolevulnic acid synthase) as well as literature regarding experimental therapies with gene modification and vector associated enzyme delivery were revised to propose new ways of clinical AIP therapy with an emphasis on pain management
The impact of IglF mutant of Francisella tularensis LVS strain on the intracelullar replication
No full textFrancisella tularensis je gram - negativna, fakultativno unutarstanična bakterija koja uzrokuje bolest tularemiju u životinja i ljudi. Zbog visoke infektivnosti, širenja aerosolom i sposobnosti izazivanja teške kliničke slike F. tularensis je kategorizirana kao potencijalni bioteroristički agens. F. tularensis subsp. holarctica soj LVS (engl. live vaccine strain) je živo atenuirano cjepivo. LVS je virulentan za miševe, ali ne i za ljude pa se često koristi u eksperimentalnim istraživanjima virulencije roda Francisella. Francisella tularensis je bakterija koja ima široki raspon domaćina, a primarni rezervoar bolesti su glodavci i zečevi. Glavni mehanizam patogeneze je sposobnost Francisella da izbjegne prepoznavanja i eliminaciju od strane imunološkog sustava unutar stanica domaćina. Jedan od glavnih čimbenika virulencije F. tularensis je atipični sustav sekrecije tipa VI (T6SS) koji je pod kontrolom Francisella patogenog otoka (FPO). Sastavljanje T6SS ovisi o iglF, iglI, iglJ i iglG. Iako je otkrivena uloga brojnih gena, uloga iglF gena u patogenezi tularemiji još uvijek nije istražena. Cilj ovog završnog rada bio je odrediti ulogu iglF gena na unutarstanično razmnožavanje F. tularensis, određivanjem broja bakterija u imortaliziranim mišjim makrofagima nakon infekcije s F. tularensis subsp. holarctica sojem LVS, mutantom ΔiglF i njenom komplemetantom iglF/iglF. Stanice su inficirane u omjeru 1:100. Broj unutarstaničnih bakterija određen je 2, 24, 48, 72 i 168 sati nakon infekcije. Analizom razlika unutarstaničnog preživljavanja F. tularensis subsp. holarctica soja LVS, mutante ΔiglF i komplementante iglF/iglF jasno se vidi da je prisutnost funkcionalnog iglF gena nužna za učinkovito preživljavanje i razmnožavanje unutar domaćinske stanice. Najznačajniji
pokazatelj istraživanja je statistički značajno smanjenje broja unutarstaničnih bakterija mutante ΔiglF u svim promatranim vremenskim razdobljima.Francisella tularensis is a gram-negative, facultative intracellular bacterium that causes the disease tularemia in animals and humans. Due to its high infectivity, aerosol spread, and ability to cause severe clinical symptoms, F. tularensis has been categorized as a potential bioterrorist agent. F. tularensis subsp. holarctica strain LVS (live vaccine strain) is a live attenuated vaccine. LVS is virulent in mice but not in humans, and is often used in experimental studies of Francisella virulence. Francisella tularensis is a bacterium with a wide host range, and the primary reservoir of the disease is rodents and rabbits. The main mechanism of pathogenesis is the ability of Francisella to evade recognition and elimination
by the immune system within host cells. One of the primary virulence factors of F. tularensis is the atypical type VI secretion system (T6SS), which is regulated by the Francisella pathogenicity island (FPI). The assembly of the T6SS depends on iglF, iglI, iglJ, and iglG. Although the role of numerous genes has been discovered, the role of the iglF gene in the pathogenesis of tularemia has not yet been investigated. This final work aimed to determine the role of the iglF gene in the intracellular reproduction of F. tularensis by measuring the number of bacteria in immortalized mouse macrophages after infection with F. tularensis subsp. holarctica strain LVS, mutant ΔiglF, and its complement iglF/iglF. Cells were infected at a ratio of 1:100. The number of intracellular bacteria was determined 2, 24, 48, 72, and 168 hours after infection. By analyzing differences in intracellular survival of F. tularensis subsp. holarctica strain LVS, ΔiglF mutants, and iglF/iglF complements show that the presence of a functional iglF gene is necessary for efficient survival and reproduction within the host cell. The most significant indicator of the research is a statistically significant decrease in the number of intracellular bacteria of the ΔiglF mutant in all observed periods
Quality of life of patients with chronic lymphocitic leukemia
No full textKronična limfocitna leukemija (KLL) je najčešća leukemija odraslih u zapadnim zemljama, a karakterizira je nakupljanje zrelih, ali funkcionalno nekompetentnih B-limfocita u krvi, koštanoj srži i limfnim čvorovima. Većina bolesnika je u trenutku dijagnoze asimptomatska, a liječenje se započinje tek kod pojave simptoma ili progresije bolesti. Dijagnoza se temelji na laboratorijskim nalazima i fenotipskoj analizi stanica. U terapiji se najčešće koriste ciljani lijekovi, poput inhibitora BTK i BCL2, koji su zamijenili kemoterapiju u prvoj liniji liječenja. Prognoza varira, ali relativno petogodišnje preživljenje iznosi oko 89%. Kvaliteta života (HRQoL) pacijenata značajno je narušena zbog umora, infekcija, nuspojava liječenja, emocionalnog stresa i socijalnih problema. Za procjenu HRQoL-a koriste se standardizirani upitnici (EORTC QLQ-C30, QLQ-CLL17), koji bilježe simptome i opterećenja pacijenata. Kvaliteta života varira ovisno o stadiju bolesti i vrsti terapije – pacijenti koji se prate bez terapije često imaju bolju fizičku, ali lošiju emocionalnu i socijalnu dobrobit u usporedbi s onima koji su na terapiji. Umor i briga o budućnosti najčešći su i najteži problemi koji utječu na sve dimenzije HRQoL-a.
HRQoL u pacijenata s KLL-om izuzetno je važan aspekt liječenja, osobito s obzirom na produljeni životni vijek zahvaljujući novim terapijama. Brojni simptomi i izazovi često narušavaju HRQoL, a personalizirani, holistički pristup liječenju može značajno pridonijeti njegovom poboljšanju. Nužno je daljnje prilagođavanje i standardizacija alata za mjerenje HRQoL-a te uključivanje šire populacije bolesnika u istraživanja.Chronic lymphocytic leukemia (CLL) is the most common leukemia in adults, and is characterized by the accumulation of mature but functionally incompetent B-lymphocytes in the blood, bone marrow, and lymph nodes. Most patients are asymptomatic at the time of diagnosis, and treatment begins only when symptoms appear or the disease progresses. Diagnosis is based on laboratory findings and phenotypic analysis of the cells. Targeted drugs, such as BTK and BCL2 inhibitors, are most often used in therapy, which have replaced chemotherapy in the first-line treatment. The prognosis varies, but the relative five-year survival is about 89%. The quality of life (HRQoL) of patients is significantly impaired due to fatigue, infections, side effects of treatment, emotional stress, and social problems. Standardized questionnaires (EORTC QLQ-C30, QLQ-CLL17) are used to assess HRQoL, which record patients' symptoms and burden. Quality of life depends on the stage of the disease and the type of therapy – patients who are on active surveillance have better physical, but worse emotional and social well-being compared to those who are on therapy. Fatigue and concern about the future are the most common and most difficult problems related to all dimensions of HRQoL.
HRQoL in patients with CLL is an extremely important aspect of treatment, especially considering the prolonged life expectancy due to new therapies. Numerous challenges often impair HRQoL, and a personalized, holistic approach to treatment can significantly contribute to its improvement. Further adaptation and standardization of tools for measuring HRQoL and the inclusion of a wider patient population in research are necessary