JUVENILE IDIOPATHIC ARTHRITIS

Juvenilni idiopatski artritis (JIA) najčešća je reumatska bolest u djece i jedna od najčešćih kroničnih bolesti koja uzrokuje kratkotrajnu ili dugotrajnu invalidnost. Sam naziv defi nira i osnovne značajke ove bolesti, a to su upala jednog ili više zglobova nepoznate etiologije, koja se javlja prije navršene 16. godine života i traje najmanje 6 tjedana. Rijetko se javlja prije šestog mjeseca života, a najčešća je u predškolskoj dobi između prve i treće godine života. JIA nije jedinstvena bolest, nego skupina bolesti s nekim zajedničkim značajkama koje se međusobno razlikuju prema imunopatogenezi, ali i prema kliničkim manifestacijama. Prema revidiranoj ILAR-ovoj (engl. International League of Associations for Rheumatology) klasifi kaciji, dijeli se u 8 podtipova, no s novim saznanjima u genetici i imunologiji klasifi kacija će zasigurno doživjeti daljnje promjene i nadopune. Kako napreduju istraživanja patogeneze JIA, tako se javljaju i bitni pomaci u liječenju ove bolesti. Cilj takvog liječenja više nije samo suzbijanje boli, već zaustavljanje i liječenje upale, čime se sprječava nastanak ireverzibilnih promjena na zglobovima i trajne invalidnosti. Biološki su lijekovi znatno pridonijeli boljoj prognozi ove bolesti.Juvenile idiopathic arthritis (JIA) is the most common rheumatic disorder in children and one of the most common causes of part-time or long-term disability. Th e term juvenile idiopathic arthritis defi nes the main characteristics of the disease: joint infl ammation of unknown origin manifested before the 16th birthday and lasting for more than six weeks. JIA is very rare in infancy, with highest frequency in preschool age. It is not a single disease, but a group of disorders with some common features of diff erent immunopathogenesis and with diff erent clinical manifestations. According to the revised International League of Associations for Rheumatology (ILAR) criteria, JIA is classifi ed into 8 subtypes, but this classifi cation is still a “work in progress“ because with new knowledge gained in genetics and immunology, the classifi cation will obviously have to be changed and refi ned. New research of the disease pathogenesis is the basis for the development of new and better treatments for JIA. Th e goal of such treatments is not just to relieve pain, but also to control infl ammation and stop irreversible joint damage and long-term disability. Biological agents have signifi cantly improved the disease prognosis

JUVENILE IDIOPATHIC ARTHRITIS

Juvenilni idiopatski artritis (JIA) najčešća je reumatska bolest u djece i jedna od najčešćih kroničnih bolesti koja uzrokuje kratkotrajnu ili dugotrajnu invalidnost. Sam naziv defi nira i osnovne značajke ove bolesti, a to su upala jednog ili više zglobova nepoznate etiologije, koja se javlja prije navršene 16. godine života i traje najmanje 6 tjedana. Rijetko se javlja prije šestog mjeseca života, a najčešća je u predškolskoj dobi između prve i treće godine života. JIA nije jedinstvena bolest, nego skupina bolesti s nekim zajedničkim značajkama koje se međusobno razlikuju prema imunopatogenezi, ali i prema kliničkim manifestacijama. Prema revidiranoj ILAR-ovoj (engl. International League of Associations for Rheumatology) klasifi kaciji, dijeli se u 8 podtipova, no s novim saznanjima u genetici i imunologiji klasifi kacija će zasigurno doživjeti daljnje promjene i nadopune. Kako napreduju istraživanja patogeneze JIA, tako se javljaju i bitni pomaci u liječenju ove bolesti. Cilj takvog liječenja više nije samo suzbijanje boli, već zaustavljanje i liječenje upale, čime se sprječava nastanak ireverzibilnih promjena na zglobovima i trajne invalidnosti. Biološki su lijekovi znatno pridonijeli boljoj prognozi ove bolesti.Juvenile idiopathic arthritis (JIA) is the most common rheumatic disorder in children and one of the most common causes of part-time or long-term disability. Th e term juvenile idiopathic arthritis defi nes the main characteristics of the disease: joint infl ammation of unknown origin manifested before the 16th birthday and lasting for more than six weeks. JIA is very rare in infancy, with highest frequency in preschool age. It is not a single disease, but a group of disorders with some common features of diff erent immunopathogenesis and with diff erent clinical manifestations. According to the revised International League of Associations for Rheumatology (ILAR) criteria, JIA is classifi ed into 8 subtypes, but this classifi cation is still a “work in progress“ because with new knowledge gained in genetics and immunology, the classifi cation will obviously have to be changed and refi ned. New research of the disease pathogenesis is the basis for the development of new and better treatments for JIA. Th e goal of such treatments is not just to relieve pain, but also to control infl ammation and stop irreversible joint damage and long-term disability. Biological agents have signifi cantly improved the disease prognosis

Juvenile dermatomyositis

Juvenilni dermatomiozitis je najčešća bolest iz skupine idopatskih inflamatornih miopatija, koje predstavljaju heterogenu skupinu subakutnih, kroničnih i akutnih bolesti skeletnih mišića. Jedinstvena klinička prezentacija dermatomiozitisa obilježena je karakterističnim kožnim promjenama i progresivnom slabošću mišića. Juvenilni oblik dermatomiozitisa razlikuje se od adultnog, jer je riječ o sistemnoj vaskulopatiji, koja nije povezana s malignim bolestima te se nerijetko preklapa s drugim sistemnim upalnim bolestima dječje dobi. Imunopatologija JDM je kompleksna, no svakim danom se javljaju nove spoznaje koje upotpunjuju naše znanje o bolesti. Liječenje uvijek započinje kortikosteroidima, a nastavlja se imunomodulatorima, te u novije vrijeme biološkim lijekovima. Suvremeno liječenje kao i bolje poznavanje same bolesti, pridonijele su znatnom smanjenu smrtnosti i poboljšanju kvalitete života.Juvenile dermatomyositis is the most common idiopathic inflammatory myopathy in children, and presents a heterogeneous group of subacute, chronic and acute diseases of skeletal muscles. Its unique presentation is marked with characteristic skin rushes and progressive muscle weakness. JDM is clinically distinct from adult dermatomyositis, because it is a systemic vasculopathy not associated with malignancy and it often overlaps with other chronic childhood inflammatory diseases. Although immunopathology of JDM is complex, new studies are completing our knowledge of disease pathogenesis. Corticosteroids represent the first line therapy, afterwards combined with immunomodulatory drugs and biological agents. Better knowledge of the disease combined with modern treatment modalities resulted in reduced mortality rates and in much improved quality of life in patients with JDM

MICROARRAY AND GENE EXPRESSION ANALYSIS

Analiza genskog izražaja s pomoću sitnopolja visokopropusna je metoda u kojoj je mnoštvo molekula DNA različite duljine pričvršćeno za čvrstu podlogu u točno određenim točkama i s pomoću njih se otkriva prisutnost odgovarajućih označenih molekula RNA koje se izoliraju iz ispitivanih bioloških uzoraka. Temeljni princip na kojem počiva sitnopolje jest sparivanje komplementarnih nukleotida (A-T i C-G), što dovodi do stvaranja nukleinskih kiselina s dvostrukom uzvojnicom. Razlike u genskom izražaju između dvije skupine uzoraka otkrivaju se i kvantificiraju usporedbom vrijednosti intenziteta signala točaka na skupinama pločica na kojima se ispitivani uzorci hibridiziraju. Za sistematsku analizu rezultata dobivenih mjerenjem genskog izražaja na sitnopolju rabi se analiza grupa i analiza obilježja te analiza mreža i putova. Usporedbom izražaja svih gena u različitim stanicama iste jedinke ili u istim stanicama različitih jedinki može se dobiti uvid u mehanizme odgovorne za razvoj nekog stanja ili bolesti.Microarray gene expression analysis is high-throughput method in which many different sized DNA molecules are attached to solid surface in designated spots. These molecules are used for the discovery of specific RNA molecules isolated from various biological samples of interest. Core principle of this method is hybridization of complementary nucleotides (A-T and G-C), which leads to creation of double stranded nucleic acids. Gene expression differences in two groups of samples are discovered and quantificated by comparison of signal intensity values in microarray spots. Systemic analysis of data gathered in microarray gene expression measurement is performed by various bioinformatic methods such as group analysis, annotation analysis as well as network and pathway analysis. Expression comparison of all genes in different cells of the same individual or same cells of different individuals provides an insight into the mechanism responsible for development of a certain condition or disease

MICROARRAY AND GENE EXPRESSION ANALYSIS

Analiza genskog izražaja s pomoću sitnopolja visokopropusna je metoda u kojoj je mnoštvo molekula DNA različite duljine pričvršćeno za čvrstu podlogu u točno određenim točkama i s pomoću njih se otkriva prisutnost odgovarajućih označenih molekula RNA koje se izoliraju iz ispitivanih bioloških uzoraka. Temeljni princip na kojem počiva sitnopolje jest sparivanje komplementarnih nukleotida (A-T i C-G), što dovodi do stvaranja nukleinskih kiselina s dvostrukom uzvojnicom. Razlike u genskom izražaju između dvije skupine uzoraka otkrivaju se i kvantificiraju usporedbom vrijednosti intenziteta signala točaka na skupinama pločica na kojima se ispitivani uzorci hibridiziraju. Za sistematsku analizu rezultata dobivenih mjerenjem genskog izražaja na sitnopolju rabi se analiza grupa i analiza obilježja te analiza mreža i putova. Usporedbom izražaja svih gena u različitim stanicama iste jedinke ili u istim stanicama različitih jedinki može se dobiti uvid u mehanizme odgovorne za razvoj nekog stanja ili bolesti.Microarray gene expression analysis is high-throughput method in which many different sized DNA molecules are attached to solid surface in designated spots. These molecules are used for the discovery of specific RNA molecules isolated from various biological samples of interest. Core principle of this method is hybridization of complementary nucleotides (A-T and G-C), which leads to creation of double stranded nucleic acids. Gene expression differences in two groups of samples are discovered and quantificated by comparison of signal intensity values in microarray spots. Systemic analysis of data gathered in microarray gene expression measurement is performed by various bioinformatic methods such as group analysis, annotation analysis as well as network and pathway analysis. Expression comparison of all genes in different cells of the same individual or same cells of different individuals provides an insight into the mechanism responsible for development of a certain condition or disease