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SažetakUvod: Aniridija je retka kongenitalna anomalija oka, praćena različitim oftalmološkim tegobama. Uzroci ovog oboljenja su mutacije u PAX6 genu (engl. paired box 6, gen sa blokom koji kodira parni domen) ili delecija lokusa na kratkom kraku jedanaestog hromozoma koja može da bude parcijalna ili kompletna. U ovoj studiji je ispitivana sekvenca PAX6 gena kod četiri nesrodna bolesnika sa aniridijom.Cilj: Ispitavanje celokupne kodirajuće sekvence PAX6 gena kod naših bolesnika u cilju otkrivanja mutacija u ovom genu.Materijal i metode: Iz uzoraka periferne krvi izolovana je DNK bolesnika. Nakon toga je metodom polimerazne lanča-ne reakcije (PCR metodom) izvršena amplifikacija kodirajućih PAX6 egzona i graničnih regiona i dati uzorci su direktno sekvencirani metodom po Sangeru.Rezultat: Kod jednog bolesnika je nađena mutacija po tipu insercije (c.342-2insC) u drugom intronu PAX6 gena. Kod preostala tri bolesnika nije nađeno odstupanje u sekvenci PAX6 gena.Zaključak: Ovo su prvi rezultati analize PAX6 gena u Srbiji. Osim najčešćih mutacija, delecija različitog obima u kodirajućem regionu ovog gena, mogući uzroci aniridije su i druge vrste mutacija. Insercija pronađena u ovoj studiji nije prijavljena ranije. Moguće je i da su mutacije u drugim genima povezane sa malformacijama dužice, što može da objasni nalaz normalne sekvence kod tri bolesnika sa aniridijom.Ključne reči: aniridija, PAX6 gen, kongenitalne anomalije oka Abstract Introduction: Aniridia is a rare congenital eye anomaly associated with various ophthalmological problems. Some of the causes of this disease are mutations in the PAX6 gene or deletion of loci on the short arm of chromosome eleven, which can be complete or partial. In this study, PAX6 gene sequence was analysed in four unrelated patients.Aim: Examination of the entire coding sequence of the PAX6 gene in our patients in order to detect mutations in this gene.Material and Methods: Patients' DNA was isolated from samples of peripheral blood. All exons and flanking intronic sequences of the PAX6 gene were amplified using PCR and screened for mutation with direct DNA sequencing by Sanger method.Results: In one patient, the insertion type of mutation (c.342-2insC) was found in the second intron of the PAX6 gene. Other three patients had normal PAX6 sequence although they had phonotypical expression of aniridia.Conclusion: These are first results of PAX6 gene analysis in Serbia. Apart from most common mutations, deletions of various extent in coding regions of PAX6 gene, other types of mutations are also possible causes of aniridia. The insertion found in this study has not been reported before. It is also possible that mutations in other genes are associated with iris malformation, which can explain the finding of normal PAX6 gene sequence in three patients with aniridia.

The athlete's heart is an exercise-induced cardiac remodelling phenomenon, which is individual and depends on the intesity, duration and frequency of training, as well as genetic factors. Cardiovascular screening prior to participation in sports activities, is a systematic practice of medical evaluation in the athlete population. The current US recommendations for the screening of cardiovascular abnormalities in high school and university athletes at all levels of performance were initially put forther by the American Heart Association in 2007. These recommendations consist of 12 points, factoring personal and family history data, as well as physical examination. On the other hand, European recommendations suggest the importance of non-invasive diagnostic methods, such as the 12-lead ECG, which should be carried out in combination with a history and physical examination. According to the European Association for Cardiovascular Imaging, standard echocardiography is the first line approach to differentiate an athlete`s heart from pathological left ventricular hypertrophy. Updated ,,Seattle criteria''from 2017. include criteria for assessing abnormalities in the electrocardiogram of athletes and their differentiation from the adaptive electrophysiological changes, which do not require further evaluation. Since sudden cardiac death during sport activities remains a major concern and, as such, it is imperative for the physician to diagnose unrecognized pathological conditions in athletes. Following current expert consensus recommendations on this topic helps to prevent untoward events during physical activity in those who are found to be at elevated risk.