Asbestos-Related Pleural Diseases: The Role of Gene-Environment Interactions

Several pleural diseases have been associated with asbestos exposure. Asbestos exposure may lead to the development of benign pleural diseases, such as pleural plaques, diffuse pleural thickening, and pleural effusion, as well as to the development of malignant mesothelioma, a highly aggressive tumour of the pleura. Asbestos exposure related to pleural diseases may be occupational or environmental. Although the causal relationship between asbestos-related pleural diseases and asbestos exposure has been well confirmed, the role of genetic factors in the development of these diseases needs to be further investigated and elucidated. The results of the studies performed so far indicate that in addition to asbestos exposure, genetic factors as well as the interactions between genetic factors and asbestos exposure may have an important impact on the risk of asbestos-related pleural diseases, especially malignant mesothelioma. This chapter aims to present how the risk of developing asbestos-related pleural diseases may be influenced by asbestos exposure, genetic factors, interactions between different genetic factors, as well as interactions between different genetic factors and asbestos exposure

Gene-Environment Interactions: The Case of Asbestosis

It is becoming evident that both environmental/lifestyle and genetic factors may influence the development of many diseases. This chapter highlights the importance of considering gene-environment interactions, which is shown on the example of our studies into asbestosis, one of the most frequent asbestos-related diseases. Asbestos fibres induce generation of reactive oxygen and nitric species (ROS and RNS), and it is generally accepted that ROS and RNS are involved in the pathogenesis of asbestos-related diseases. Human tissues contain specific enzymes that metabolise ROS and RNS, such as superoxide dismutases (SODs), catalase (CAT), glutathione-S-transferases (GSTs) and inducible nitric oxide synthase (iNOS). As these enzymes are encoded by polymorphic genes, genetic variability in an individual’s capacity to detoxify these reactive species may modify the risk for disease. Our previous studies into asbestosis showed that the associations between the risk of asbestosis and MnSOD Ala-9Val polymorphism and between asbestosis and iNOS genotypes were modified by CAT −262C>T polymorphism. A strong interaction was also found between smoking (lifestyle factor) and GSTM1-null polymorphism, between smoking and iNOS (CCTTT)n polymorphism and between cumulative asbestos exposure (environmental factor) and iNOS (CCTTT)n polymorphism. The findings of our studies and other studies indicate that in addition to environmental and/or occupational exposure to different hazards and lifestyle factors, genetic factors as well as the interactions between different genotypes, between genotypes and lifestyle factors and between genotypes and environmental/occupational exposure to hazards may also have an important role on the development of diseases and should be further investigated

Asbestos-Related Diseases and Blood Biomarkers

Asbestos-related diseases, including asbestosis, benign pleural diseases, lung cancer, other types of cancer, and especially malignant mesothelioma (MM), still represent an enormous problem all over the world and are among the most investigated occupational diseases. Considering that MM is a highly aggressive and severe malignant cancer of pleura, peritoneum and other serosal surfaces, new blood biomarkers for earlier diagnosis, following response to treatment and disease progression, have been intensively investigated. Several studies suggested that soluble mesothelin-related peptides, fibulin-3, survivin, osteopontin, vimentin, calretinin, and many others could be helpful in diagnosis, detecting the progression of MM and evaluating tumour response to treatment; however, these biomarkers have not been validated in clinical practice. Therefore, search for novel better stand-alone or composite biomarkers is under way. The aim of this chapter is to present the importance of blood biomarkers in evaluating the risk of developing asbestos-related diseases, early diagnosis, following the response to treatment and progression of these diseases, with special emphasis on MM

Manganese and Extracellular Superoxide Dismutase Polymorphisms and Risk for Asbestosis

Manganese and extracellular superoxide dismutases (SOD2 and SOD3) are part of the enzymatic defence against reactive oxygen species, which are involved in the pathogenesis of asbestosis. This study investigates whether SOD2Ala − 9Val and SOD3 Arg213Gly genetic polymorphisms represent risk factors for asbestosis in workers exposed to asbestos. The study included 262 cases with asbestosis and 265 controls with no asbestos-related disease. Cumulative asbestos exposure was calculated for each subject. A real-time PCR assay was introduced for genotyping. Logistic regression analysis was used to assess asbestosis risk. Asbestosis was associated with the homozygous SOD2 − 9Ala/Ala genotype (OR = 1.50, 95% CI 1.01–2.24), whereas the association for the SOD3 Arg/Gly genotype was not significant (OR = 1.63, 95% CI 0.62–4.27). The finding that the SOD2 − 9Ala/Ala genotype increases the risk for asbestosis indicates that, in addition to asbestos exposure, genetic factors may also have a significant influence on the development of asbestosis

Azbestoza in polimorfizem gena za katalazo

Catalase (CAT) is part of the enzymatic defense system against reactive oxygen species (ROS), known to be involved in the pathogenesis of asbestosis. This study investigates whether CAT -262 C>T genetic polymorphism influences the risk of asbestosis in workers occupationally exposed to asbestos. The nested case-control study included 262 cases with asbestosis and 265 controls with no asbestosrelated disease. Data on cumulative asbestos exposure and smoking were available. A real-time PCR assay was introduced for genotyping CAT -262 C>T promoter polymorphism. A slightly elevated risk of asbestosis was observed in subjects with the CAT -262 TT genotype compared to others (OR=1.36, CI 0.70-2.62). This risk did not change substantially after adjustment by sex, age, and smoking, but the involvement of cumulative asbestos exposure changed the OR to 1.91 (CI 0.93-3.91). These findings indicate that the CAT -262 TT genotype may be slightly associated with an increased risk of asbestosis. No synergistic effect was found between cumulative asbestos exposure and the CAT -262 TT genotype, but cumulative asbestos exposure acted as a confounder. These results are an important contribution to understanding the interactions between genetic and environmental factors that may modify the risk of asbestosis.Katalaza (CAT) je del encimskega obrambnega sistema proti eaktivnim kisikovim spojinam (ROS), za katere je znano, da so vpletene v patogenezo azbestoze. V raziskavi preučujemo, ali genetski polimorfizem CAT -262 C>T vpliva na tveganje za nastanek azbestoze pri delavcih, ki so bili poklicno izpostavljeni azbestu. Ugnezdena študija primerov s kontrolami je vključevala 262 primerov z azbestozo in 265 kontrol, ki niso imeli nobene bolezni, povezane z izpostavljenostjo azbestu. Na razpolago so bili podatki o celokupni izpostavljenosti azbestu in kajenju. Za genotipizacijo promotorskega polimorfizma CAT -262 C>T smo uporabili PCR v realnem času. Rahlo povišano tveganje za azbestozo smo opazili pri osebah z genotipom CAT -262 TT (RO=1,36, IZ 0,70-2,62). Opisano tveganje se ni bistveno spremenilo po prilagoditvi po spolu, starosti in kajenju, pač pa se je razmerje obetov zvišalo po uvedbi celokupne izpostavljenosti azbestu na 1,91 (IZ 0,93-3,91). Rezultati kažejo, da genotip CAT -262 TT lahko povezujemo z rahlo povečanim tveganjem za razvoj azbestoze. Sinergističnega učinka med celokupno izpostavljenostjo azbestu in genotipom CAT -262 TT nismo opazili, celokupna izpostavljenost azbestu pa je delovala kot moteča spremenljivka. Rezultati predstavljajo pomemben prispevek k razumevanju sovpliva genetskih in okoljskih dejavnikov, ki bi lahko spremenili tveganje za nastanek azbestoze

Inducible Nitric Oxide Synthase Genetic Polymorphism and Risk of Asbestosis

Asbestos, a known occupational pollutant, may upregulate the activity of inducible nitric oxide synthase (iNOS) and thus the production of nitric oxide (NO). This study investigated whether iNOS (CCTTT)n polymorphism is associated with an increased asbestosis risk in exposed workers. The study cohort consisted of 262 cases with asbestosis and 265 controls with no asbestos-related disease. For each subject the cumulative asbestos exposure data were available. The number of CCTTT repeats was determined following PCR amplification of the iNOS promoter region. Logistic regression was performed to estimate asbestosis risk. The OR of asbestosis was 1.20 (95%  CI = 0.85–1.69) for the LL genotype compared to the combined SL and SS genotypes and 1.26 (95% CI = 0.86–1.85) for the LL genotype compared to the SL genotype. The results of this study are borderline significant and suggest a possible role of iNOS (CCTTT)n polymorphism in the risk of asbestosis; however, further studies are needed

Vozniške zmožnosti pri demenci in parkinsonizmu

Samostojna vožnja avtomobila posamezniku omogoča neodvisnost in dejavno vključenost v družbo. Predstavlja kompleksno dejavnost, ki zahteva uporabo kognitivnih, senzoričnih in motoričnih sposobnosti voznika. Naraščajoči delež starejših v Sloveniji, tako kot v ostalih delih razvitega sveta, pomeni, da se bo v bližnji prihodnosti pomembno povečalo tudi število oseb z nevrodegenerativnimi boleznimi, najpogostejši med njimi sta Alzheimerjeva bolezen in Parkinsonova bolezen. Čeprav starejši povzročijo razmeroma malo prometnih nezgod, se to najverjetneje povezuje s pogostostjo njihove udeležbe v prometu. Upoštevajoč število prevoženih kilometrov so starejši ena od starostnih skupin, ki povzroči največ prometnih nesreč. Pri bolnikih z napredovalo demenco pa so sposobnosti vožnje še dodatno poslabšane, učinkovitost strategij kompenzacije vožnje (npr. izogibanje vožnji ponoči in vožnji po avtocesti) pa vprašljiva. Raziskave o vozniški uspešnosti posameznikov v začetni fazi demence niso povsem enoznačne, zato se o vozniški sposobnosti ne smemo odločati le na osnovi diagnoze. Potrebna je individualna skrbna analiza kliničnega stanja in dodatnih podatkov, dobljenih z nevropsihološkimi testi in preizkusno vožnjo. Ključno je upoštevanje posebnosti nevroloških in drugih okvar pri posameznih boleznih ter možnosti kompenzacije okrnjenih sposobnosti. Glede na široko paleto dejavnikov, ki vplivajo na oceno vozniške zmožnosti, enoznačnega priporočila o vozniški zmožnosti ob postavitvi diagnoze demenca ali parkinsonizem ni moč podati

Terminologija klinične prehrane: Motnje prehranjenosti in s prehranjenostjo povezana stanja

Izhodišča: Prehransko stanje posameznika uvrščamo med ključne dejavnike njegovega zdravja. Za učinkovito individualno in multidisciplinarno obravnavo stanj, povezanih s prehranskim stanjem posameznika, moramo dobro poznati terminologijo klinične prehrane. Ker je klinična prehrana kot medicinska stroka razvita tudi pri nas, v tujini pa so tovrstni terminološki dokumenti že na voljo, želimo tudi v Sloveniji na podlagi konsenza oblikovati enotno terminologijo. Metode: Prispevek je osnovan na podlagi eksplicitnega terminološkega dogovora. K sodelovanju smo povabili obsežno skupino relevantnih slovenskih strokovnjakov s kliničnih, predkliničnih in drugih področij, ki so povezana z dejavnostjo klinične prehrane v medicini, pri oblikovanju pa je sodeloval tudi terminolog s področja medicine. Kot izhodišče smo izbrali terminološke smernice Evropskega združenja za klinično prehrano in presnovo ter ob njih upoštevali najnovejša strokovna priporočila za posamezne pojme. Avtorji so bili v stiku prek osebnih srečanj in elektronske pošte. Pri končnem oblikovanju konsenza je sodelovalo 42 avtorjev iz 19 slovenskih ustanov. Rezultati: Predstavljamo temeljne pojme, terminološke definicije in pripadajoče slovenske termine s področja klinične prehrane. Opredelili smo osnovne motnje prehranjenosti – podhranjenost, prekomerno hranjenost, neravnovesje mikrohranil in sindrom ponovnega hranjenja. Poleg tega smo opredelili tudi s prehranjenostjo povezana stanja – sarkopenijo in krhkost. Osnovne pojme smo podprli s kliničnim kontekstom, v katerem nastopajo. Zaključki: Poenoteno razumevanje osnovnih patoloških stanj, ki jih obravnava klinična prehrana, je izhodišče za nadaljnji razvoj stroke, poleg tega pa je podlaga tudi za prehransko obravnavo in učinkovito prehransko oskrbo

Terminologija klinične prehrane: Prehranska obravnava – presejanje prehranske ogroženosti in prehranski pregled

Izhodišča: Pomembno vlogo pri prehranski obravnavi imata tako presejanje prehranske ogroženosti kot prehranski pregled, na podlagi katerega lahko postavimo diagnozo motnje prehranjenosti ali s prehranjenostjo povezane motnje. Ocena posameznikovega prehranskega stanja, ki jo pridobimo s prehransko obravnavo, je namreč ključna za načrtovanje učinkovite prehranske oskrbe. Za razvoj področja je pomembno, da so vsi termini, ki se uporabljajo pri kliničnem delu, usklajeni. Taki terminološki dokumenti v mednarodnem prostoru že obstajajo, smiselni pa so tudi za slovenščino in naše okolje. Metode: Prispevek temelji na eksplicitnem terminološkem dogovoru skupine 42 relevantnih slovenskih strokovnjakov iz 19 slovenskih ustanov. Osnova oblikovanja terminoloških smernic je terminološki dokument Evropskega združenja za klinično prehrano in presnovo, pri čemer so bili upoštevani tudi novejši izsledki klinične prehrane. Rezultati: Predstavljeni so slovenski termini in terminološke definicije s področja klinične prehrane. Opredeljeni so osnovni pojmi s področja prehranske obravnave, ki je praviloma del medicinske obravnave. Predstavljena sta pojma prehranska ogroženost in presejanje prehranske ogroženosti, ob čemer so navedeni tudi različni presejalni testi za presejanje prehranskih motenj in s prehranjenostjo povezanih stanj. Podrobno so opredeljeni tudi prehranski pregled in njegovi sestavni deli. Zaključki: Tako presejanje prehranske ogroženosti kot prehranski pregled sta bistvena za diagnostično obravnavo v okviru klinične prehrane, poenoteno razumevanje terminologije pa omogoča primerno prepoznavo patoloških stanj pri bolnikih in pripravo ustreznega načrta prehranskih ukrepov

Validation of the Croatian Version of the Sense of Coherence 29-Item Scale in Croatian Nurses

The aim of the study was to validate the Croatian version of the Sense of Coherence 29-item instrument (SOC-29) within a nursing population