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Cilj: Cilj istraživanja bio je utvrditi pojavnost, kliničke karakteristike te ishod prijevremeno rođene dojenčadi, liječene na Odjelu intenzivnog liječenja djece Klinike za pedijatriju Kliničkog bolničkog centra Rijeka, u razdoblju 2014. – 2018. godine. Ispitanici i metode: Ispitanici su sva prijevremeno rođena dojenčad liječena na Odjelu intenzivnog liječenja djece Klinike za pedijatriju Kliničkog bolničkog centra Rijeka, u razdoblju 2014.-2018. Ispitanici su prema gestacijskoj dobi podijeljeni u četiri skupine (ekstremno prijevremeno rođena, vrlo prijevremeno rođena, umjereno prijevremeno rođena, kasno prijevremeno rođena djeca) te su navedene skupine uspoređivane s obzirom na pojedine kliničke karakteristike. Rezultati: Ispitivanje je obuhvatilo ukupno 176-ero prijevremeno rođene dojenčadi. U skupini ispitane ekstremno prijevremeno rođene dojenčadi razlozi hospitalizacija u 90,3 % slučajeva bile su komplikacije prijevremenog rođenja, u skupini vrlo prijevremeno rođene dojenčadi komplikacije prijevremenog rođenja bile su razlogom hospitalizacija u 62,1 %, u 35 % slučajeva dojenčadi umjerenog, a u skupini dojenčadi kasnog prijevremenog rođenja 22,4 %. Od ukupnog broja ispitivane prijevremeno rođene dojenčadi, njih 79 (44,9 %) imalo je 1-2 komplikacije, 35 (19,9 %) ih je imalo 3-4 komplikacije, a 15-ero (8,5 %) prematurne dojenčadi imalo je pet ili više komplikacija prijevremenog rođenja. Od ukupno 176-ero ispitivane prijevremeno rođene dojenčadi u navedenom periodu, 14-ero (8 %) ih je umrlo tijekom hospitalizacije. Zaključci: Budući da su prema literaturi najčešći razlozi hospitalizacija prijevremeno rođene dojenčadi infekcije, nerijetko izravno povezane s komplikacijama prijevremenog rođenja, pokušaji smanjenja navedenog broja hospitalizacija trebali bi biti usmjereni upravo prema smanjenju broja infekcija. Uz navedeno bi, vjerojatno, poželjan učinak imala i dodatna koordinacija skrbi i praćenja.

Aim: To report the clinical courses of two patients with intestinal obstruction caused by duodenal web, who were diagnosed with this rare congenital anomaly at Clinical Hospital Center Rijeka in a span of 5 months. Case report: One of the patients was prenatally suspected to have duodenal obstruction due to ultrasonographic findings, while the other showed signs of obstruction by not tolerating oral intake from the second day of life (DOL). Ceasing enteral feeding, placing a nasogastric tube and introducing intravenous hydration and parenteral nutrition was performed as initial management. Abdominal ultrasonography, abdominal radiography, upper gastrointestinal contrast study and contrast enema were performed but showed no signs of obstruction. Both patients showed improvement in tolerating oral intake over the next few days. However, the first patient did not tolerate meals exceeding 15 mL of infant formula, and the second patient again did not tolerate any oral intake from the 15th day of life. A broad diagnostic workup was repeated but did not show conclusive evidence of obstruction regarding the first patient. Esophagogastroduodenoscopy found duodenal obstruction of unknown origin regarding the second patient. Laparotomy was performed on the 19th and 25th DOL, respectively. Duodenal web was visualized and excised in both patients following duodenotomy. Postoperative recovery was orderly with minor nonsurgical complications. The patients were discharged from hospital on the 21st and 36th postoperative day, respectively. Conclusions: Diagnosing a perforated duodenal web is often challenging because of possible intermittent nature of its symptoms. Exploratory laparotomy is sometimes required to reach diagnosis., Cilj: Prikazati klinički tijek dviju djevojčica s kongenitalnom crijevnom opstrukcijom uzrokovanom duodenalnom membranom, liječenih od ove rijetke anomalije u Kliničkom bolničkom centru Rijeka u razmaku od pet mjeseci. Prikaz slučaja: Kod prve je djevojčice sumnja na duodenalnu opstrukciju postavljena zbog prenatalnog ultrazvučnog nalaza, dok je kod druge sumnja na opstrukciju postavljena postnatalno jer od drugog dana života nije tolerirala oralni unos hrane. U sklopu inicijalnog zbrinjavanja u obje je djevojčice obustavljena enteralna i uvedena parenteralna prehrana, postavljena je nazogastrična sonda te uvedena parenteralna nadoknada volumena. Ultrazvuk abdomena, radiografija abdomena, pasaža crijeva i irigografija nisu pokazali znakove gastrointestinalne opstrukcije. Obje djevojčice ubrzo su počele sve bolje tolerirati enteralni unos. Međutim, prva djevojčica nije tolerirala obroke veće od 15 mL instant-formule, a druga nakon 15. dana života ponovno nije tolerirala enteralni unos hrane. Ponovljena je široka dijagnostička obrada koja u prve djevojčice nije dokazala duodenalnu opstrukciju. U druge je djevojčice ezofagogastroduodenoskopijom utvrđena duodenalna opstrukcija nepoznate etiologije. U 19., odnosno 25. danu života provedena je laparotomija. Intraoperativno, nakon duodenotomije, u oba je slučaja vizualizirana duodenalna membrana koja je potom ekscidirana. Poslijeoperacijski oporavak bio je uredan s manjim nekirurškim komplikacijama. Djevojčice su otpuštene iz bolnice 21., odnosno 36. poslijeoperacijskog dana. Zaključci: Postavljanje dijagnoze duodenalne membrane često je vrlo složeno zbog intermitentne prirode simptoma. Eksplorativna laparotomija katkad je nužna kako bi se postavila konačna dijagnoza.

Impairments of the genes that encode enzymes that are involved in one-carbon metabolism because of the presence of gene polymorphisms can affect the methylation pattern. The altered methylation profiles of the genes involved in cardiogenesis may result in congenital heart defects (CHDs). The aim of this study was to investigate the association between the MTHFR rs1801133, MTHFR rs1801131, MTRR rs1801394, DNMT1 rs2228611, DNMT3A rs1550117, DNMT3B rs1569686, and DNMT3B rs2424913 gene polymorphisms and congenital heart defects in Down syndrome (DS) individuals. The study was conducted on 350 participants, including 134 DS individuals with CHDs (DSCHD+), 124 DS individuals without CHDs (DSCHD−), and 92 individuals with non-syndromic CHD. The genotyping was performed using the PCR–RFLP method. A statistically significant higher frequency of the DNMT3B rs2424913 TT in the DSCHD+ individuals was observed. The DNMT3B rs2424913 TT genotype, as well as the T allele, had significantly higher frequencies in the individuals with DS and atrial septal defects (ASDs) in comparison with the individuals with DS and other CHDs. Furthermore, our results indicate a statistically significant effect of the DNMT3B rs1569686 TT genotype in individuals with non-syndromic CHDs. The results of the study suggest that the DNMT3B rs2424913 TT genotypes may be a possible predisposing factor for CHDs in DS individuals, and especially those with ASDs.

Prijevremeno rođeno novorođenče (nedonošče) tek je porođeno dijete koje je nošeno kraće od punih 37 tjedana trudnoće, odnosno kraće od 259 dana, računajući od prvog dana posljednje menstruacije majke. Patofiziološke osobitosti prijevremeno rođenog novorođenčeta najvećim su dijelom odraz funkcijske nezrelosti organa i organskih sustava, koja stvara poteškoće u prilagodbi na izvanmaternični život. Komplikacije prematuriteta mogu biti uzrokovane samim prijevremenim porodom, nezrelošću organskih sustava i primjenom potrebne terapije, a rizik za njihov nastanak povećava se sa smanjenjem gestacijske dobi i porođajne mase. Dijelimo ih na kratkoročne i dugoročne. Od kratkoročnih komplikacija najizraženije i najčešće su respiratorni distres sindrom, bronhopulmonalna displazija, perzistirajući arterijski duktus, intraventrikularno krvarenje, periventrikularna leukomalacija, nekrotizirajući enterokolitis, poteškoće hranjenja, prematurna retinopatija i infekcije. Iz skupine dugoročnih komplikacija ističu se poremećaj rasta i razvoja (neurorazvojna odstupanja i kronične bolesti) te poteškoće u psihosocijalnom i emocionalnom funkcioniranju., Prematurity is defined as a birth that occurs before completed 37th gestational week. Immaturity of a preterm infant is the underlying reason for their adverse postnatal adaptation and specific pathophysiological characteristics. In preterm survivors there is a significant rate of short and long-term health complications. Risk of such complications increases with the decrease of gestational age at the time of delivery and the birth weight. Most common short-term complications that accompany preterm birth are respiratory distress syndrome, bronchopulmonary dysplasia, persistent arterial duct, intraventricular hemorrhage, periventricular leukomalacia, necrotizing enterocolitis, feeding difficulties, premature retinopathy, and infections. Long term complications include growth impairment, neurodevelopmental disturbances, chronic health conditions, difficulties in psychosomatic and emotional functioning.

Background: Evidence suggests that the dimer configuration of methylenetetrahydrofolate reductase (MTHFR) enzyme might be destabilized by polymorphisms in monomers at the positions C677T and A1298C. It has been observed that these polymorphisms may lead to stable (CCAA, CCAC, CCCC) and unstable (CTAA, CTAC, TTAA) enzyme dimer configurations. Objective: The aim of this study was to evaluate the association of the MTHFR enzyme dimer configuration and folate dietary intake with the stage of meiotic nondisjunction in mothers of children with maternally derived trisomy 21. Methods: A total of 119 mothers of children with maternally derived free trisomy 21 were included in the study. The mean maternal age at the time of the birth of the child with trisomy 21 was 32.3 ± 6.4 (range 16–43) years. All mothers were Caucasian. Parental origin of trisomy 21 and meiotic stage of nondisjunction was determined using short tandem repeat markers spanning from the centromere to the telomere of chromosome 21q. The MTHFR C677T and A1298C polymorphism was evaluated by PCR-RFLP. Results: Increased frequency of the MTHFR genotype combinations CTAA, CTAC, and TTAA was found in the group of mothers with meiosis I (MI) nondisjunction (p = 0.007). No differences were found between study participants regarding dietary and lifestyles habits. Conclusion: The risk for MI nondisjunction of chromosome 21 was 4.6-fold higher in cases who had CTAA, CTAC, and TTAA MTHFR genotype combinations and who did not used folic acid supplements in the preconception period.

Background: Dextranomer/hyaluronic acid copolymer (Dx/HA) has been the most widely used bulking agent for the endoscopic treatment of vesicoureteral reflux. Case presentation: Here we report on a case of an 18-month-old male who underwent endoscopic treatment with Dx/HA for persistent high-grade unilateral vesicoureteral reflux (VUR). Three months later, due to the reappearance of contralateral VUR and indicated endoscopic treatment, a second cystoscopy was performed. A submucosal, well-vascularized mass localized on the left trigone and anteromedially to the left orifice was noted. Since it differed from the other similar implants previously detected on cystoscopy, it was misdiagnosed with a bladder tumor, indicating further evaluation. Extensive laboratory and imaging studies revealed normal findings, apart from high levels of neuron- specific enolase (NSE). A hypothesis made at that point was that the elevated level of NSE is due to the implantation of the Dx/HA. To test the hypothesis, two other healthy children previously treated with a Dx/HA implant were identified and their NSE levels measured. In both cases, the levels of NSE were elevated. Conclusion: The presented cases revealed that elevated levels of NSE are most likely due to a previous implantation of Dx/HA. This observation should be taken into consideration whenever there is a tentative diagnosis of bladder tumor following the endoscopic treatment of VUR with Dx/HA in a child.

CILJ: Intraventrikularno krvarenje (IVH) jedno je od najznačajnijih uzroka oštećenja središnjeg živčanog sustava u prijevremeno rođene novorođenčadi. Niz je istraženih čimbenika rizika za nastanak IVH u prematurusa: genetski, prenatalni, faktori poroda, te čimbenici novorođenačkog razdoblja. Neki od njih jatrogene su prirode, što sugerira potrebu za znanstveno-istraživačkim pristupom u cilju detekcije istih.ISPITANICI I METODE: Retrospektivno su analizirani podaci iz medicinske dokumentacije Jedinice novorođenačkog intenzivnog liječenja, Klinike za ginekologiju i porodništvo, Kliničkog bolničkog centra Rijeka. Izdvojeni su podaci o prematurusima, u kojih je postavljena dijagnoza intraventrikularnog krvarenja (I.- IV. stupanj), tijekom 2013. i 2014. godine. Analizirani su podaci 60-ero djece koji se odnose na trudnoću, porod i novorođenačko razdoblje. Ispitanici su podijeljeni u skupine, u ovisnosti o stupnju IVH-a , a rezultati su statistički obrađeni.REZULTATI: Korioamnionitis majke u trudnoći, Apgar ocjene u 1. i 5 minuti, perinatalna asfiksija, gestacijska dob, prisutstvo respiratornog distresa, rodna masa, epizode hiper/hipokapnije, primjena reanimacije, svježe smrznute plazme (SSP), natrij-hidrogenkarbonata (NaHCO3) i filtriranih eritrocita (FE) u prvom tjednu života, pokazali su statistički značajnu razliku između grupa ispitanika s različitim stupnjevima IVH-a. Čimbenici koji su značajno utjecali na stupanj IVH jesu gestacijska dob (P=0,004) i primjena FE u 1. tjednu (P=0,001). Primjena FE u 1. tjednu života samostalno je doprinijela 11,74%, a gestacijska dob 7,80% u objašnjavanju stupnja IVH.ZAKLJUČCI: Osobito je važno da medicinsko osoblje, koje skrbi o prijevremeno rođenom novorođenčetu i trudnici, poznaje čimbenike rizika za javljanje IVH-a, posebice one jatrogene prirode, u cilju njihovog minimiziranja i/ili uklanjanja., OBJECTIVE: Intraventricular hemorrhage (IVH) is one of the most important causes of damage to the central nervous system in preterm infants. There are number of the investigated risk factors for IVH in premature infants: genetic, prenatal, delivery factors, and factors related to neonatal period. Some of them are of iatrogenic nature, suggesting the need for scientific-research approach to detect them. PATIENTS AND METHODS: We retrospectively analyzed data from medical records of Neonatal Intensive Care Unit, at the Department of Obstetrics and Gynecology, University Hospital Center Rijeka. Selected were the data on premature infants who were diagnosed with intraventricular hemorrhage (I- IV. degree), during 2013 and 2014. We analyzed the data of 60 children relating to pregnancy, childbirth and neonatal period. Subjects were divided into groups, depending on the degree of IVH, and the results were statistically analyzed. RESULTS: Chorioamnionitis during pregnancy, Apgar score at 1st and 5th minutes, perinatal asphyxia, gestational age, the presence of respiratory distress, birth weight, hyper- / hypocapnia, resuscitation, the use of fresh frozen plasma (FFP), sodium bicarbonate (NaHCO3) and the filtered red blood cells (FRBC) in the first week of life, showed a statistically significant association with the development of higher degree IVH. Factors that significantly influenced the degree of IVH are gestational age (P = 0.004) and the application of FE in the first week (P = 0.001). In explaining the degree of IVH, application of FE in the first week of life independently contributed with 11.74%, while gestational age with 7.80%.CONCLUSIONS: It is particularly important that the medical staff, which takes care of preterm newborn and pregnant woman, is familiar with the risk factors for developing IVH, particularly those of iatrogenic nature, for the purpose of their minimization and / or elimination.

Although umbilical venous catheterization is a routine procedure in premature newborns, it is associated with various, potentially life threatening, complications. We present a case of a premature baby diagnosed with a hepatic parenchymal liquid collection as a complication of umbilical vein catheterization in our Neonatal Intensive Care Unit. The child was born in the 25th gestational week (GW) and was doing well until the12th day of life when his general condition deteriorated. He appeared anxious and his oxygen saturation (SaO2) decreased. There was slight abdominal distension and tenderness over the abdominal wall, with weak bowel movements, and a palpable liver. Abdominal ultrasound (US) showed an enlarged liver with a well-defined hypoechoic area, with inhomogeneous echogenicity. Such findings were suggestive of fluid extravasation to the liver through a malpositioned umbilical venous catheter. The umbilical catheter was withdrawn, antimicrobial treatment initiated, and eventual complete regression of the collection was seen eleven days after extravasation. Rapid, unexplained clinical deterioration of a newborn with an umbilical vein catheter should always raise the suspicion of a complication due to catheterization. Such a catheter should be carefully revised and, if there is any doubt, removed. Timely diagnosis and adequate treatment is essential, and potentially life-saving.