Browsing by Author "Cerovac, Nataša (23476572500)"

Introduction. GLUT1 deficiency syndrome (GLUT1 DS, OMIM 606777) is a metabolic brain disorder caused by mutations in SLC2A1 gene (chromosome 1) encoding glucose transporter type 1 located on blood-brain membrane. The “classic” phenotype in children includes early onset generalized farmacoresistant epilepsy, developmental delay, complex movement disorders and acquired microcephaly. However, there are milder phenotypes without epilepsy which could be seen in older children. The ketogenic diet is a treatment of choice. Case report. We present a four-year- old female patient with farmacoresistant generalized epilepsy, paroxysmal dystonic posturing, ataxia, hypotonia, developmental delay (motor, attention and speech disturbances), and microcephaly. The genetic testing revealed a novel point mutation at c.156T > A (p.Y52X) in exon 3 of SLC2A1 gene. The patient responded excellent on ketogenic diet. Conclusion. GLUT1 DS is treatable, and likely to be under-diagnosed neurological disorder. The ketogenic diet is resulting in good control of seizures in the patients, and it has certain benefit for the neurodevelopmental disability. Apstrakt Uvod. GLUT1 sindrom deficijencije (GLUT1 DS, OMIM 606777) je metaboličko oboljenje mozga uzrokovano mutacijom u SLC2A1 genu (hromozom 1) koji kodira transporter glukoze tip 1 lokalizovan na krvno-moždanoj barijeri. “Klasični” fenotip kod dece uključuje ranu pojavu generalizovane farmakorezistentne epilepsije, usporen psihomotorni razvoj, poremećaje pokreta i stečenu mikrocefaliju. Međutim, blaži fenotipovi bez pojave epilepsije mogu se videti i u kasnijem uzrastu. Ketogena dijeta je terapija izbora. Prikaz bolesnika. U radu je prikazana devojčica, uzrasta četiri godine sa farmakorezistentnom generalizovanom epilepsijom, paroksizmalnim distonijama, ataksijom, hipotonijom, usporenim razvojem (poremećajima motorike, pažnje i govora) i mikrocefalijom. Genetsko testiranje je otkrilo novu tačkastu mutaciju u c.156T > A (p.Y52X) na egzonu 3 SLC2A1 gena. Kod bolesnice je primećeno poboljšanje u kliničkom nalazu na primenu ketogene dijete. Zaključak. GLUT1 DS je lečiva neurološka bolest, koja je verovatno nedovoljno prepoznata. Ketogena dijeta dovodi do povoljne kontrole napada kod dece, a doprinosi izvesnom poboljšanju u neurološkom nalazu. © 2019, Inst. Sci. inf., Univ. Defence in Belgrade. All rights reserved.

Introduction. Ring chromosome 20 [r(20)] syndrome is a rare genetic abnormality where two arms of the 20th chromosome fuse forming a ring chromosome, resulting in intractable epilepsy and wide range of behavioral problems and cognitive deficits. Case report. We presented four patients with r (20) syndrome diagnosed between the years 2000-2018. In all patients we analyzed clinical epilepsy features (seizure semiology, seizure frequency/drug response, the presence of nonconvulsive status epilepticus), cognitive status and the phenotype characteristics. The average age of epilepsy onset was 6 years. All four patients had nocturnal epileptic events and normal brain magnetic resonance (MR) imaging. Dysmorphism was present in two children, behavioral problems also in two children and intellectual disabilities were observed in three children. R(20) syndrome mosaicism ranged between 17% and 83% of blood lymphocytes. Conclusion. Despite the small size of our group, we think that our findings have clinical relevance. Refractory childhood onset epilepsy and especially the occurrence of nocturnal epileptic events should help physicians to recognize this chromosomopathy. Routine karyotyping can be employed to identify the patients easily. © 2022 Inst. Sci. inf., Univ. Defence in Belgrade. All rights reserved.

Background/Aim. Rare diseases are chronic, degenerative and may lead to permanent disability. We aimed to assess knowledge and attitudes of the 3rd and 6th year medical students towards the treatment of rare diseases in Serbia. Methods. In this cross-sectional study, two samples of students were questioned for a survey: 350/446 (78.48%) students of the 3rd year, and 242/517 (46.81%) students of the 6th year. Results. Sixth year students estimated that they were more informed on the issue analyzed than the 3rd year students (median value of 4 and 3, interquartile range of 3–5, and 1–4, respectively; p < 0.05). However, a significant percentage of participants esti-mated incorrectly the prevalence of rare diseases according to the European Union standards (3rd year – 42.68%, 6th year - 49.55%). Core curriculum subjects were the main source of in-formation on rare diseases (3rd year – 63.14%; 6th year – 92.14%). Our participants agreed that the most important problems are the following: high drug prices, difficult access to drugs and lack of public information. Students found, without any differences, that community access to effective drugs for rare disease should be improved (median value – 10, interquar-tile range 8–10 in both groups, p < 0.05). In order to improve pharmacotherapy of rare diseases in Serbia, the participants suggested establishment of a National Plan for Rare Diseases, approval of more appropriate drugs, simplified access to appropriate medicines, and more rapid diagnostics. Conclusion. It is necessary to improve the knowledge and attitudes of medical students towards pharmacotherapy of rare diseases. © 2016, Institut za Vojnomedicinske Naucne Informacije/Documentaciju. All rights reserved.

Introduction. The possibility of a term pregnancy with favorable maternal and neonatal outcome is one of the greatest advances in kidney transplantation, though concerns still exist regarding the safety of the mother, fetus, and graft. The use of immunosuppressive medications during pregnancy is related to possible fetal adverse effects. Case report. We report a course of a pregnancy in a patient with a kidney transplant. The patient was treated with immunosuppressive therapy (tacrolimus, azathioprine, and prednisolone) during the pregnancy. The outcome of the pregnancy was without maternal and neonatal complications. Serum creatinine levels were stable and no acute organ rejection occurred during pregnancy. Significant elevation of the Ddimer and coagulant factors II, VII, IX and X were noticed during the third trimester. This could be partially attributed to azathioprine, which was a part of the immunosuppressive regimen. On the other hand, there were no radiological or clinical signs of thromboembolism, but low-molecularweight heparin prophylaxis was immediately initiated. Cesarean section was performed at the 39th gestational week and a healthy female infant was delivered with a birth weight of 3,150 g and Apgar score 9. Conclusion. Pregnancies of kidney transplant recipients are high-risk and require a multidisciplinary approach. Careful clinical follow-up is a prerequisite for favorable outcome. © 2017, Institut za Vojnomedicinske Naucne Informacije/Documentaciju. All rights reserved.