Pre-symptomatic diagnostics of medullary thyroid carcinoma using r-DNA methods

Razlikovanje sporadičnog i nasljednog medularnog karcinoma štitnjače od velikog je kliničkog značenja kako zbog razlike u prognozi, tako i potrebe za presimptomatskom dijagnostikom i genskim savjetovanjem u potonjem slučaju. Nasljedne mutacije proto-onkogena ret dovode do nastanka sindroma multiple endokrine neoplazije tipa 2. Somatske točkaste mutacije ovog gena prisutne su u sporadičnim medularnim karcinomima štitnjače. Metode molekularne medicine omogućuju genetičke analize kojima se potvrđuje ili isključuje prisustvo nasljedne mutacije. Ujedno omogućuju i presimptomatsko otkrivanje bolesti u zdravih ljudi.The distinction of sporadic from inherited medullary thyroid carcinomas (MTCs) is of clinical importance because of the differences in prognosis and the need for family screening for genetic counselling required in the latter. Germline mutations in the ret proto-oncogene are associated with multiple endocrine neoplasia type 2. Somatic point mutations in the same gene are identified in a subset of sporadically occurring MTCs. The methods of molecular medicine are suitable to distinguish heritable from non-heritable MTCs and identify asymptomatic individuals at risk

Pre-symptomatic diagnostics of medullary thyroid carcinoma using r-DNA methods

Razlikovanje sporadičnog i nasljednog medularnog karcinoma štitnjače od velikog je kliničkog značenja kako zbog razlike u prognozi, tako i potrebe za presimptomatskom dijagnostikom i genskim savjetovanjem u potonjem slučaju. Nasljedne mutacije proto-onkogena ret dovode do nastanka sindroma multiple endokrine neoplazije tipa 2. Somatske točkaste mutacije ovog gena prisutne su u sporadičnim medularnim karcinomima štitnjače. Metode molekularne medicine omogućuju genetičke analize kojima se potvrđuje ili isključuje prisustvo nasljedne mutacije. Ujedno omogućuju i presimptomatsko otkrivanje bolesti u zdravih ljudi.The distinction of sporadic from inherited medullary thyroid carcinomas (MTCs) is of clinical importance because of the differences in prognosis and the need for family screening for genetic counselling required in the latter. Germline mutations in the ret proto-oncogene are associated with multiple endocrine neoplasia type 2. Somatic point mutations in the same gene are identified in a subset of sporadically occurring MTCs. The methods of molecular medicine are suitable to distinguish heritable from non-heritable MTCs and identify asymptomatic individuals at risk

Epigenetics and major depression disorder

Veliki depresivni poremećaj (MDD, od engl. Major Depressive Disorder) jedan je od najčešćih psihosomatskih poremećaja, sa snažnom tendencijom porasta broja oboljelih. Do 2020. godine mogao bi postati drugi najveći zdravstveni svjetski problem. Uzroci nastanaka bolesti, kao i klinička slika, vrlo su složeni. Ovakva složenost posljedica je aktivnosti velikog broja gena, od kojih svaki „pridonosi“ nastanku i izražaju bolesti s relativno malim udjelom. Sve veći broj rezultata mnogih studija upućuje na važnost epigenetičkih mehanizama regulacije aktivnosti gena, kao poveznicu bioloških i drugih čimbenika koji se povezuju s nastankom depresije. Većina istraživanja pokazuje uzročno-posljedičnu vezu između različitih bioloških i psihosocijalnih čimbenika, s jedne strane, te međuovisne promjene obrazaca metilacije/demetilacije molekule DNK i promjene koda histona, s druge strane. Sve je više podataka o značajnoj ulozi različitih nekodirajućih molekula RNK u nastanku depresivnog poremećaja. Konačno, pokazalo se da mnogi antidepresivi djeluju na epigenom. Ovaj učinak otvara potpuno novo poglavlje u razumijevanju patogeneze i epigenetičke podloge liječenja depresivnog poremećaja.Major Depressive Disorder (MDD) represents one of the most common psychosomatic disorders with a pronounced increasing incidence. It is expected to become the number two major world health problem by 2020. The causes of MDD as well as its clinical features are very complex. The probable reason for such complexity relates to a large number of genes, being involved in a condition where each gene makes only a minor contribution to the MDD etiology and clinic phenotypes. An increasing number of studies published during last decade have pointed out the importance of epigenetic regulatory mechanisms in affecting gene activity as well as constituting a possible link between biological and other factors related to MDD. Most of the studies have shown causality between different, MDD related biological and psycho-social factors. They have also described mutually controlled processes involved in the regulation of DNA methylation and establishment of histone code. There is a growing body of evidence on the significant role of non-coding RNA molecules in the ethiopathogenesis of MDD. Finally, it was shown that many antidepressive agents exert much influence on the epigenome. Such activity opens a new chapter in understanding the MDD pathogenesis and the basis for epigenome-reshaping related therapy

Influence of Tabacco Use on Periodontal Health in PTSD Patients

Brojne epidemiološke i kliničke studije utvrdile su pušenje duhana čimbenikom rizika za progresiju parodontne bolesti. Također je pronađena pozitivna korelacija izme đu nižega socioekonomskog statusa i težine parodontne bolesti.Željeli smo istražiti utjecaj pušenja na klinički parodontni status i subgingivni mikrobni profil u pacijenata s PTSP-om i pacijenata s progresivnom parodontnom bolesti. Istraživanje je uključilo 130 ispitanika podijeljenih u 3 skupine. Prva je skupina bila 50 osoba kojima je postavljena dijagnoza PTSP-a, i aktivno su sudjelovali u Domovinskom ratu. Druga se skupina sastojala od 50 pacijenata s uznapredovalim parodontitisom, a kontrolnu skupinu tvorilo je 30 parodontno zdravih osoba. Osobe iz tih skupina nisu bile izravno izložene ratnom stresu. Klinički pregled parodonta uključivao je mjerenje indeksa plaka (PI), indeksa krvarećeg sulkusa (SBI) dubine sondiranja (PD) i klinički gubitak pričvrstka (CAL). Parodontni patogeni Actinobacillus actinomycetemcomitans (Aa), Porphyromonas gingivalis (Pg) i Eikenella corrodens (Ec) identificirani su s pomoću metode lančane reakcije polimeraze (PCR). Pušački i društvenoekonomski status, mjeren stupnjem naobrazbe takođe su određeni. Ispitanici s PTSP-om su u usporedbi s drugim dvjema skupinama imali najveći postotak pušača. U skupini s PTSP-om 78% ispitanika bili su pušači, a samo je 33% kontrolnih ispitanika pušilo. U skupini s PTSP-om 34% je pušilo manje od 20 cigareta na dan, a 30% je pušilo više od 40 cigareta na dan. Ovo razlikuje PTSP skupinu od druge dvije. Rezultati pokazuju da su, gledajući sve skupine zajedno, pušači imali više parodontnih upala i destrukcija nego nepušači, premda su samo PI i SBI vrijednosti bile statistički znatne. Odnos jakosti parodontne upale i destrukcije u pušača i nepušača je isti, i kada se promatra svaka skupina zasebno. Nisu pronađene statistički znatne razlike između prevalencije bakterija Aa, Pg i Ec imeđu pušača i nepušača. Skupina s PTSP-om imala je najniži stupanj školovanja. Navika pušenja i niži društvenoekonomski status čimbenici su koji utječu na zdravlje parodonta i pridonose parodontnoj upali u oboljelih od PTSP-a.Numerous epidemiological and clinical studies have identified tobacco smoking as a risk factor for periodontal disease progression. Positive correlation between lower socioeconimic status and periodontal disease severity has also been found. We wanted to study the influence of smoking on clinical periodontal status and the subgingival microbial profile in post-traumatic stress disorder (PTSD) patients and patients with progressive periodontal disease. The investigation included 130 subjects divided in to three groups. The first group comprised 50 persons diagnosed with PTSD, who has actively participated in the Croatian liberation war. The second group were 50 patients treated for advanced periodontitis, and the control group were 30 periodontally healthy subjects. Subjects from the latter two groups were not directly subjected to war-related stress. Clinical periodontal examination included recording of plaque index (PI), sulcus bleeding index (SBI), probing depth (PD) and clinical attachment loss (CAL). Periodontal pathogens Actinobacillus actinomycetemcomitans (Aa),Porphyromonas gingivalis (Pg) and Eikenella corrodens (Ec) were identified using poymerase chain reaction (PCR) method. Smoking and socioeconomic status, evaluated by the level od education, were also assessed. The group of subjects with PTSD, compared to the other groups, had most cigarette smokers. In the PTSD group, 78% were smokers, wile only 33% of control subjects smoked. In the PTSD group, 34% smoked less than 20 cigarettes per day, and 30% smoked more than 40 cigarettes per day. In this respect PTSD group differs greatly from the other group. The results show that, of all participiants, smokers had more periodontal inflammation and destruction than non-smokers, although only PI and SBI values were significantly higher. This relationship is similar for each of the studied groups. No statistically significant difference was observed between bacterial prevalence of Aa, Pg and Ec between smokers and nonsmokers. PTSD group had the lowest education level. Smoking habits and lower socioeconimic status are contributing factors influencing the periodontal status of PTSD patients