Bijela knjiga: Sekundarna upotreba zdravstvenih i biomedicinskih podataka u Republici Hrvatskoj

U suvremenom digitalnom dobu, zdravstveni sustavi generiraju ogromne količine podataka koji potencijalno sadrže vrijedne informacije o pacijentima, njihovom liječenju i ishodima. Ovi podaci, zajedno s napretkom tehnologije i analitičkih alata, stvaraju jedinstvenu priliku za sekundarnu upotrebu zdravstvenih i biomedicinskih podataka. Sekundarna primjena podataka odnosi se na njihovo korištenje u svrhe koje nadilaze izvornu svrhu prikupljanja, kao što su istraživanje, donošenje odluka i unapređenje zdravstvenog sustava. Bijela knjiga istražuje koncept sekundarne primjene zdravstvenih i biomedicinskih podataka ističući potencijalne prednosti i izazove koje ona nosi sa sobom. Izradili su je stručnjaci, članovi radne grupe za sekundarnu upotrebu zdravstvenih i biomedicinskih podatka (SEKA) u suradnji s udrugom Pin For Health čiji je cilj poticanje stručnjaka i građana na sudjelovanje u stvaranju javnih politika u zdravstvu. Bijela knjiga opisuje stanje sa sekundarnom primjenom podatka u Hrvatskoj, s naglaskom na organizacijske, društvene i praktične izazove poput dostupnosti podataka, dostupnosti stručnjaka, spremnost donosioca odluka da uvrste ishode analize podataka u svakodnevnu praksu i odlučivanje te spremnost društva i pacijenata na sekundarnu upotrebu njihovih podataka. Na kraju bijele knjige navedeni su primjeri sekundarnog korištenja podataka te preporuke za različite dionike sustava o tome na koji način trebaju podržati i potaknuti sekundarnu upotrebu zdravstvenih i biomedicinskih podataka

Race differentiation within strains of Xanthomonas euvesicatoria causal agent of bacterial spot of pepper in Serbia

Bacterial spot of pepper, caused by Xanthomonas euvesicatoria regularly causes losses in pepper production in Serbia. During 2008, 2009 and 2010 samples of diseased pepper leaves with bacterial spot symptoms were collected from different localities in Serbia. Total of 116 strains of bacteria were obtained by isolation from infected leaves. Within the world population of the pathogen 11 physiological races are distinguished on the basis of reaction on pepper variety ECW and their isogenic lines known as ECW10R (Bs1 gene), ECW20R (Bs2 gene), ECW30R (Bs3 gene) and PI 235047 (Capsicum pubescens). Race differentiation of Serbian X. euvesicatoria strains was carried out based on the reaction of differential plants. Our studies showed that the population of X. euvesicatoria was heterogeneous, consisting of four physiological races: P1, P3, P7 and P8. The most common was the pepper race P8, followed by P7, P1 and P3 represented by the 93, 17, 5 and 1 strain, respectively

Declaration on eHealth - 10 years later

Deklaracija o e-zdravlju, projekt Odbora za e-zdravlje Akademije medicinskih znanosti Hrvatske (AMZH), objavljena je 2011. godine na mrežnim stranicama Akademije medicinskih znanosti Hrvatske. Uz manje izmjene, tekst Deklaracije na hrvatskom jeziku dostupan je na mrežnim stranicama Akademije medicinskih znanosti Hrvatske i, na engleskom jeziku, u Biltenu Hrvatskog društva za medicinsku informatiku te na društvenoj mreži ResearchGate.net. Da bi se vidjelo što se dogodilo s Deklaracijom nakon 10 godina provelo se je vrednovanje prema OECD-ovom modelu „ulog-odgovor-ishod-učinak“, i to kroz direktne posljedice, tj. službene dokumente koji u potpunosti preuzimaju pojedine njezine navode, i kroz činjenice realizirane nakon objave Deklaracije a koje su u skladu s navodima u njoj. U radu je opisan svaki korak (ulog, odgovor, ishod, učinak). Glavni ishodi su navedeni u tablici s nazivima dokumenata i citata koji potvrđuju usklađenost s navodima Deklaracije. Što se tiče učinka, pet je navoda iz Deklaracije postiglo zamjetljiv učinak, impakt u zdravstvenom sustavu. Iako još nije realizirano u potpunosti (npr. nemaju sve bolnice zadovoljavajući sustav koji se uklapa u centralni zdravstveni informacijski sustav; zdravstveni portal za komunikaciju s građanima postoji ali je otvoreno pitanje koliko ga građana koristi; certifikacija se provodi prema određenim kriterijima i protokolima ali nije u potpunosti usklađena s kriterijima EuroRec-a; medicinsko/zdravstveno informatičko obrazovanje postoji ali nije ujednačeno na svim medicinskim/zdravstvenim obrazovnim ustanovama – ni sadržajno, niti mjestom u obrazovnom kurikulu), postoji niz ishoda koji su usklađeni s Deklaracijom i međunarodnim stremljenjima i koji su na putu da postanu zamjetljiv učinak Deklaracije. Treba uzeti u obzir da i međunarodno gledajući nema konačnog i zadovoljavajućeg rješenja i da još treba i vremena i napora da bi se realizirao digitalizirani zdravstveni sustav u nacionalnim okvirima ali i međunarodno.Declaration on eHealth (Declaration), the project of the eHealth Committee of the Croatian Academy of Medical Sciences (CAMS), was published in 2011 on the website of CAMS. With minor changes, the text of the Declaration in Croatian is available on the website of the CAMS and, in English, in the Bulletin of the Croatian Society for Medical Informatics (CroSMI) and on the social network ResearchGate.net. To find out what happened to the Declaration after 10 years, an evaluation was carried out according to the OECD\u27s input-output-outcome-impact model, (a) through direct consequences, i.e., official documents quoting some of Declaration’s statements, and b) through facts being in line with the Declaration, occurred after the Declaration was published. The paper describes input, output, outcome, and impact as the steps in evaluation. The main outcomes are listed in the table, then titles of documents, as well as quotations confirming compliance with statements in the Declaration. Considering the effect, five statements in the Declaration have achieved a noticeable effect in the Croatian eHealth. Although not yet fully implemented (like, some hospitals have not yet implemented the system compatible with the central health information system; there is the health portal for communication with citizens, but it is unknown how many citizens use them for now; criteria and protocols for the certification process have been defined, but certification is not entirely in accordance with EuroRec criteria; medical / health informatics issue (MHI) for future healthcare professionals exists, but differently in different teaching programs, even for the same type and level of educational institutions). There are several outcomes in accordance with Declaration and international trends, which could be considered as the effect of the Declaration. Finally, there is no complete and satisfactory solution for eHealth even internationally. Thus, it takes more time and effort to fully achieve the digitalized health system at the national and international level

Drug-drug-gene interactions as mediators of adverse drug reactions to diclofenac and statins: a case report and literature review

Statini i nesteroidni protuupalni lijekovi (NSAID) učestalo se propisuju, pa i kao konkomitantna terapija. Postoji značajna interindividualna razlika u osjetljivosti na njihove najčešće nuspojave. Rizični čimbenici za razvoj nuspojava tih lijekova mogu biti povezani s lijekom i pacijentom ili s vanjskim čimbenicima. Polifarmacija je česta u kroničnih bolesnika i povećava rizik od razvoja interakcija lijekova. Istodobna primjena lijekovima koji inhibiraju CYP, UGT, ABC i / ili SLC prijenosnike lijekova (ABCB1, ABCG2 i OATP1B1) povezana je s produljenjem bioraspoloživosti lijekova, što rezultira povećanim rizikom od razvoja nuspojava. S tim u vezi, predstavljamo slučaj 46-godišnje žene koja je tijekom dvije godine doživjela akutno oštećenje bubrega i jetre, kao i mialgiju, dok je uzimala diklofenak, atorvastatin, fiksnu kombinaciju simvastatina / fenofibrata istovremeno s nekoliko drugih lijekova, uključujući pantoprazol i furosemid. Analiza dobivenih farmakogenetičkih rezultata te pregled dosadašnjeg znanja u tom području upućuju na zaključke da interakcije lijek-lijekgen mogu produljiti bioraspoloživost primijenjenih lijekova. Mehanizam se argumentirano temelji na sporijoj sposobnosti detoksikacije i smanjenoj eliminaciji putem jetre i bubrega, što rezultira toksičnošću za više organa. Jednako tako, prikazuje se važnost polimorfizama CYP u biotransformaciji endogenih supstrata poput arahidonske kiseline i u njihovoj modulacijskoj ulozi u patofiziološkim procesima. Danas postoje prilično značajni znanstveni dokazi o određenim farmakogenetičkim spoznajama koji rezultiraju povećanim rizikom od razvoja nuspojava za spomenute lijekove, no unatoč tomu, farmakogenetička analiza prije uvođenja lijekova u terapiju još nije uvedena u redovitu kliničku praksu.Concomitant treatment with drugs that inhibit drug metabolising enzymes and/or transporters, such as commonly prescribed statins and nonsteroidal anti-inflammatory drugs (NSAIDs), has been associated with prolonged drug exposure and increased risk of adverse drug reactions (ADRs) due to drug-drug interactions. The risk is further increased in patients with chronic diseases/comorbidities who are more susceptible because of their genetic setup or external factors. In that light, we present a case of a 46-year-old woman who had been experiencing acute renal and hepatic injury and myalgia over two years of concomitant treatment with diclofenac, atorvastatin, simvastatin/fenofibrate, and several other drugs, including pantoprazole and furosemide. Our pharmacogenomic findings supported the suspicion that ADRs, most notably the multi-organ toxicity experienced by our patient, may be owed to drug-drug-gene interactions and increased bioavailability of the prescribed drugs due to slower detoxification capacity and decreased hepatic and renal elimination. We also discuss the importance of CYP polymorphisms in the biotransformation of endogenous substrates such as arachidonic acid and their modulating role in pathophysiological processes. Yet even though the risks of ADRs related to the above mentioned drugs are substantially evidenced in literature, pre-emptive pharmacogenetic analysis has not yet found its way into common clinical practice

Genome-wide detection of copy number variants in European autochthonous and commercial pig breeds by whole-genome sequencing of DNA pools identified breed-characterising copy number states

In this study, we identified copy number variants (CNVs) in 19 European autochthonous pig breeds and in two commercial breeds (Italian Large White and Italian Duroc) that represent important genetic resources for this species. The genome of 725 pigs was sequenced using a breed-specific DNA pooling approach (30–35 animals per pool) obtaining an average depth per pool of 429. This approach maximised CNV discovery as well as the related copy number states characterising, on average, the analysed breeds. By mining more than 17.5 billion reads, we identified a total of 9592 CNVs (~683 CNVs per breed) and 3710 CNV regions (CNVRs; 1.15% of the reference pig genome), with an average of 77 CNVRs per breed that were considered as private. A few CNVRs were analysed in more detail, together with other information derived from sequencing data. For example, the CNVR encompassing the KIT gene was associated with coat colour phenotypes in the analysed breeds, confirming the role of the multiple copies in determining breed-specific coat colours. The CNVR covering the MSRB3 gene was associated with ear size in most breeds. The CNVRs affecting the ELOVL6 and ZNF622 genes were private features observed in the Lithuanian Indigenous Wattle and in the Turopolje pig breeds respectively. Overall, the genome variability unravelled here can explain part of the genetic diversity among breeds and might contribute to explain their origin, history and adaptation to a variety of production system

Genome-wide detection of copy number variants in European autochthonous and commercial pig breeds by whole-genome sequencing of DNA pools identified breed-characterising copy number states

In this study, we identified copy number variants (CNVs) in 19 European autochthonous pig breeds and in two commercial breeds (Italian Large White and Italian Duroc) that represent important genetic resources for this species. The genome of 725 pigs was sequenced using a breed-specific DNA pooling approach (30–35 animals per pool) obtaining an average depth per pool of 429. This approach maximised CNV discovery as well as the related copy number states characterising, on average, the analysed breeds. By mining more than 17.5 billion reads, we identified a total of 9592 CNVs (~683 CNVs per breed) and 3710 CNV regions (CNVRs; 1.15% of the reference pig genome), with an average of 77 CNVRs per breed that were considered as private. A few CNVRs were analysed in more detail, together with other information derived from sequencing data. For example, the CNVR encompassing the KIT gene was associated with coat colour phenotypes in the analysed breeds, confirming the role of the multiple copies in determining breed-specific coat colours. The CNVR covering the MSRB3 gene was associated with ear size in most breeds. The CNVRs affecting the ELOVL6 and ZNF622 genes were private features observed in the Lithuanian Indigenous Wattle and in the Turopolje pig breeds respectively. Overall, the genome variability unravelled here can explain part of the genetic diversity among breeds and might contribute to explain their origin, history and adaptation to a variety of production system

Genome-wide detection of copy number variants in European autochthonous and commercial pig breeds by whole-genome sequencing of DNA pools identified breed-characterising copy number states

In this study, we identified copy number variants (CNVs) in 19 European autochthonous pig breeds and in two commercial breeds (Italian Large White and Italian Duroc) that represent important genetic resources for this species. The genome of 725 pigs was sequenced using a breed-specific DNA pooling approach (30–35 animals per pool) obtaining an average depth per pool of 429. This approach maximised CNV discovery as well as the related copy number states characterising, on average, the analysed breeds. By mining more than 17.5 billion reads, we identified a total of 9592 CNVs (~683 CNVs per breed) and 3710 CNV regions (CNVRs; 1.15% of the reference pig genome), with an average of 77 CNVRs per breed that were considered as private. A few CNVRs were analysed in more detail, together with other information derived from sequencing data. For example, the CNVR encompassing the KIT gene was associated with coat colour phenotypes in the analysed breeds, confirming the role of the multiple copies in determining breed-specific coat colours. The CNVR covering the MSRB3 gene was associated with ear size in most breeds. The CNVRs affecting the ELOVL6 and ZNF622 genes were private features observed in the Lithuanian Indigenous Wattle and in the Turopolje pig breeds respectively. Overall, the genome variability unravelled here can explain part of the genetic diversity among breeds and might contribute to explain their origin, history and adaptation to a variety of production system