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Objective This paper aimed to emphasize the importance of considering the diagnosis of PROP1 mutation in all cases where multiple members of the same family are affected by combined pituitary hormone deficiencies (CPHD). Case Report - We describe two brothers of unrelated parents with a mutation in the PROP1 gene. Both brothers presented with growth impairment - the older one at the age of 2.5 years, and the younger one at the age of 3.3 years. Central hypothyroidism and GH deficiency were established in both of them. Replacement therapy was started using levothyroxine and recombinant growth hormone. Pituitary magnetic resonance imaging was normal. Genetic analysis identified a pathogenic homozygous frameshift variant c.301_302delAG in the PROP1 gene. Conclusion - Patients with PROP1 mutation must be closely followed up to reveal other possible hormonal defects and to avoid possible life-threatening adrenal crisis in the future. PROP1 mutation should be considered in all familial forms of CPHD and in all patients who have a deficiency of two or more pituitary hormones. [ABSTRACT FROM AUTHOR]

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The study aimed to determine the incidence, clinical characteristics, and outcomes of the preterm infants treated at the Paediatric Intensive Care Unit of the Paediatric Clinic, Clinical Hospital Centre Rijeka, from 2014 to 2018. Patients and methods: Respondents were all preterm infants treated in the Paediatric Intensive Care Unit of the Paediatric Clinic, Clinical Hospital Centre Rijeka, from 2014 to 2018. Observed preterm infants were divided into four groups based on their gestational age (extremely prematurely born, very prematurely born, moderately prematurely born, late prematurely born). These groups were observed and compared with their individual clinical characteristics. Results: The study included a total of 176 premature infants. In the group of extremely premature infants, the reasons for hospitalization in 90.3% of cases were complications of premature birth, which caused hospitalizations in the group of very premature infants by 62.1%, among moderate infants by 35%, and in the group of late preterm infants by 22.4%. Of the total number of observed hospitalized preterm infants, 79 of them (44.9%) had 1-2 complications, 35 (19.9%) had 3-4 complications, and 15 of them (8.5%) had five or more complications. Out of the total of 176 observed preterm infants in this period, 14 (8%) died during the hospitalization. Conclusions: Based on literature sources, the most common reasons for hospitalization of preterm infants are infections – often directly related to complications of premature birth – the attempts to reduce the number of hospitalizations should focus on the reduction of infections. Besides that, more coordination between care and monitoring would probably ensure more positive outcomes. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Objective: Intraventricular hemorrhage (IVH) is one of the most important causes of damage to the central nervous system in preterm infants. There are a number of 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. [ABSTRACT FROM AUTHOR]