Browsing by Author "Kalanj, Jasna (8405619200)"

Background: Familial chylomicronemia syndrome (FCS) is a rare genetic disorder with heterogeneous presentation, where acute encephalopathy is rarely described in literature. Therefore, initial neurologic symptoms could make the diagnosis and treatment challenging. Case presentation: A four-month-old male infant presented with acute encephalopathy, vomiting, bulging fontanel, decreased appetite and failure to thrive. He had extremely lipemic serum and anemia. Intracranial computed tomography (CT) revealed lipid collection which was suspected to be epidermoid cyst, and also lipid deposits with extra-axial and intravascular location. This was initially described as a ruptured intracranial epidermoid cyst with dissemination of lipid content, including intravascular dissemination. Together with clinical signs of raised intracranial pressure it was discussed whether the cyst should be surgically removed. Since the blood sample appearence was milky and the child was rather stable, surgery wasn’t performed and the treatment with exchange transfusion (ET) was started immediately. Only after ET it was possible to obtain laboratory results including lipid status (triglycerides were 106.8 mmol/l). At that point we suspected that the underlining cause is a genetic disease. Three cycles of plasmapheresis followed ET, after which symptoms resolved almost completely, despite remaining lipid deposits on brain CT scan and brain ultrasound, with some signs of regression. After these repeated imaging studies, it was concluded that the ‘cyst’ was actually the largest brain lipid collection. The definitive genetic diagnosis confirmed FCS. A short course of insulin, antioxidants and fibrates was initially given, but discontinued after the diagnosis confirmation due to lack of supporting data in the literature. Effective and the only maintenance treatment was the diet consisting of formula low in fat and high in medium-chain triglycerides. On the discharge the infant’s neurological status, except mild hypotonia, was normal, he was thriving well, had good appetite and no anemia. Conclusions: This is a rare case of FCS presenting with neurological symptoms that mimicked the clinical picture of ruptured intracranial epidermoid cyst, which was initially the differential diagnosis of this case. Initial interpretation of imaging studies didn’t delay treatment. With the right treatment, the symptoms of the disease could be reversible with satisfactory outcome. © The Author(s) 2024.

Cardiac haemangiomas are exceedingly rare; however, they can cause significant haemodynamic impairment and disturbances in heart rhythm. Rarely, cardiac tumours may also coexist with congenital heart lesions. We present an extremely unusual case of a cardiac haemangioma in the setting of complex transposition of the great arteries that caused functional tricuspid atresia. To our knowledge, this is the first such case described in the literature. © Cambridge University Press 2017.

Though the outcome for children with congenital diaphragmal hernia (CDH) is improving, management of seriously compromised respiratory and cardiovascular function remains a great challenge. The aim of this study was to review a tertiary center experience in treating children with CDH. Retrospective observational study from January 2005 to December 2014. Neonatal Intensive Care Unit (NICU) of University Children Hospital (UCH), Belgrade, Serbia. Children with CDH. The CDH was diagnosed prenatally in 23% patients. An overall survival rate was 62%. Among those patients who underwent surgical repair 29 (90%) survived. There was statistically significant difference in survival rate between operated patients and total examined population (P=0.020). Prenatally diagnosed neonates with CDH had significantly lower survival rate comparing to those who were postnatally diagnosed (20% vs. 75%; P=0.002). Fatal outcome was more frequent in patients with small birth weight comparing to those with normal birth weight (67% vs. 30%; P=0.046). Our center survival rate for CDH is in accordance with other reported studies. Based on our experience there are potential points for further improvement. First, further increase of prenatal detection, planning for delivery, and coordinated transfer to tertiary institution, in order to avoid transfer of near death patients. Second, preoperative management in the NICU. This could be done by more uniform implementation of current consensual guidelines in monitoring, mechanical ventilation and circulatory support of these delicate patients, together with rationale use of newer therapeutic resources. © 2016 Walter de Gruyter GmbH, Berlin/Boston.

Aortic coarctation surgery in pediatric patients requires the placement of two arterial cannulas to monitor pressure gradients and surgical correction adequacy. Near-infrared spectroscopy (NIRS) monitoring provides insight into regional blood flow. This study aimed to investigate the correlation between NIRS values and invasive arterial pressures, exploring NIRS monitoring as a potential substitute for arterial cannulation. In a cohort of 21 consecutive pediatric patients undergoing aortic coarctation surgery, recordings of NIRS and invasive arterial pressure values were evaluated at various time intervals. Pearson correlation evaluated the relationship between NIRS values and invasively measured arterial pressures. Moderate to strong correlations were observed between the mean arterial pressure (MAP) of the upper and lower arteries and cerebral (rSO2-C) and somatic (rSO2-S) NIRS values 5 min after cross-clamp placement (r = 0.621, p = 0.003; r = 0.757, p < 0.001). Strong correlations were found 15 min after cross-clamp placement (r = 0.828, p = 0.002; r = 0.783, p = 0.004). Before transfer to the ICU, a strong correlation existed between the upper artery MAP and rSO2-C (r = 0.730, p < 0.001), but there was no correlation between the lower artery MAP and rSO2-S. These findings are promising, but further studies are required to validate it as a reliable substitute for invasive pressure monitoring in this patient population. © 2024 by the authors.

Aortic coarctation surgery in pediatric patients requires the placement of two arterial cannulas to monitor pressure gradients and surgical correction adequacy. Near-infrared spectroscopy (NIRS) monitoring provides insight into regional blood flow. This study aimed to investigate the correlation between NIRS values and invasive arterial pressures, exploring NIRS monitoring as a potential substitute for arterial cannulation. In a cohort of 21 consecutive pediatric patients undergoing aortic coarctation surgery, recordings of NIRS and invasive arterial pressure values were evaluated at various time intervals. Pearson correlation evaluated the relationship between NIRS values and invasively measured arterial pressures. Moderate to strong correlations were observed between the mean arterial pressure (MAP) of the upper and lower arteries and cerebral (rSO2-C) and somatic (rSO2-S) NIRS values 5 min after cross-clamp placement (r = 0.621, p = 0.003; r = 0.757, p < 0.001). Strong correlations were found 15 min after cross-clamp placement (r = 0.828, p = 0.002; r = 0.783, p = 0.004). Before transfer to the ICU, a strong correlation existed between the upper artery MAP and rSO2-C (r = 0.730, p < 0.001), but there was no correlation between the lower artery MAP and rSO2-S. These findings are promising, but further studies are required to validate it as a reliable substitute for invasive pressure monitoring in this patient population. © 2024 by the authors.

Background: Reduction of heart rate variability as a consequence of heart disease and postural change has been well documented. However, the data on the effect of postural change in pediatric patients are incomplete and the effect is not fully understood. The aim of the study was to investigate effect of postural change on heart rate variability in relation to the extent of severity of heart disease. Methods: The dependence of heart rate variability on posture in 41 children and young adults (8-20 years) with heart disease has been investigated and compared with control. Short-term electrocardiograms (ECGs) were assessed in supine rest and active standing, and spectral measures of heart rate variability were determined. Results: Two types of response to the change of supine to standing posture were determined in both healthy and diseased subjects. In majority of subjects, the increased heart rate induced by standing was accompanied by a decrease in high-frequency power. However, in about 30% of all subjects, increased heart rate during standing was accompanied by an increased high-frequency power. Independently of posture and disease, high-frequency and low-frequency power were positively correlated. In subjects characterized by a reduction of heart rate variability in standing, the high-frequency power in both postures is reduced in diseased subjects compared to control. Conclusions: These results demonstrate that in this age range, the response to posture is not unique because of the difference in high-frequency power, which implies a variety of vagal modulations of heart rate. © 2004 Elsevier Ireland Ltd. All rights reserved.

Introduction Pulmonary artery stenosis (PS) is a congenital heart defect which occurs in 10% of all congenital heart defects. Pulmonary balloon valvuloplasty (BVP) has been the treatment of choice of PS over the last 30 years.; Methods The study included 88 patients diagnosed with PS. The patients were divided into three groups based on the severity of the disease. Also, they were divided into two age groups in order to analyze the frequency of complications. Hemodynamic measurements and echocardiography results were recorded before, 24-36 hours after BVP and at the end of follow-up.; Objective The purpose of this study was to evaluate the efficacy of this method based on middle-term hospital follow-up, and safety of BVP based on our experience.; Results The studied group involved patients of average age 3.75±4.3 years (20 days to 17 years). Immediately after BVP a significant decrease of pressure gradient across the pulmonary valve (PV) was recorded in all patients; this result was similar in all 3 groups of patients regardless of the severity of stenosis (p<0.001). Complications of BVP occurred most commonly in children up to 12 months of age (ventricular tachycardia 4.5% and supraventricular tachycardia 6.8%). Pulmonary valve insufficiency after dilatation occurred in 6.6% of cases, and was most common in children aged up to 12 months. In 87 (98.9%) patients BVP was a definitive solution, and a significant residual stenosis was not recorded during follow-up.; Conclusion BVP is a safe and effective procedure in the treatment of isolated PS in children, regardless of the severity of stenosis but also regardless of patients’age. © 2014, Srpsko Lekarsko Drutsvo. All rights reserved.

Background: Balloon valvuloplasty is the primary treatment for congenital aortic valve stenosis in our centre. We sought to determine independent predictors of reintervention (surgical repair or repeated balloon dilation) after primary valvuloplasty. Methods: We retrospectively studied patients with congenital aortic valve stenosis who underwent balloon valvuloplasty during 2004-2018. The following risk factors were analysed: aortic valve insufficiency after balloon valvuloplasty >+1/4, post-procedural gradient across the aortic valve ≥35 mmHg, pre-interventional gradient across the valve, annulus size, use of rapid pacing, and balloon/annulus ratio. Primary outcome was aortic valve reintervention. Results: In total, 99 patients (median age 4 years, range 1 day to 26 years) underwent balloon valvuloplasty for congenital aortic valve stenosis. After a mean follow-up of 4.0 years, 30% had reintervention. Adjusted risks for reintervention were significantly increased in patients with post-procedural aortic insufficiency grade >+1/4 and/or residual gradient ≥35 mmHg (HR 2.55, 95% CI 1.13-5.75, p = 0.024). Pre-interventional gradient, annulus size, rapid pacing, and balloon/annulus ratio were not associated with outcome. Conclusion: Post-procedural aortic valve insufficiency grade >+1/4 and/or residual gradient ≥35 mmHg in patients undergoing balloon valvuloplasty for congenital aortic valve stenosis confers an increased risk for reintervention in mid-term follow-up. © The Author(s), 2023. Published by Cambridge University Press.

Introduction/Objective Vitamin K deficiency is common in newborn infants and without prophylaxis there is a risk of vitamin K deficiency bleeding (VKDB). The most frequent prophylactic approach is an intramuscular (IM) injection of vitamin K1 immediately after birth. Its efficiency to prevent late VKDB has been recently questioned by several reports. Based on our experience, we discuss the need for additional vitamin K1 supplementation after its IM administration at birth. Methods We present a retrospective review of 12 infants, 11 with confirmed and one with probable late VKDB despite IM prophylaxis at birth, who were treated in the two largest tertiary care pediatric hospitals in Serbia during the last 15 years. Results All the patients were exclusively breastfed. In 11 patients, daily weight gain was normal or increased, and one patient had failure to gain weight. Six infants were previously healthy, three infants received antibiotics prior to bleeding, and in two diarrhea and cholestasis, respectively, existed previously. An intracranial bleeding was documented in nine infants, four of whom died. Conclusion Low content of phytomenadione in human milk could occasionally be attributed to late VKDB despite postnatal IM injection of vitamin K1 in otherwise healthy, exclusively breastfed infants. This might be aggravated by transient disturbance of vitamin K turnover due to antibiotic use, acute diarrhea, or transient cholestasis. We suggest that an additional vitamin K1 supplementation after postnatal IM prophylaxis could be justified in exclusively breastfed infants. © 2017, Serbia Medical Society. All rights reserved.

Introduction Arterial switch operation (ASO) is a cardiosurgi-cal method of choice for complete anatomical correction of transposition of great arteries. Improvement of this procedure has made considerably improved the outcome and long-term prognosis of children born with this complex congenital heart disease. Objective The aim of this study was to estimate the success rate of ASO through retrospective analysis of mortality and late complications. Methods This study included 57 children operated from 1stJanuary 2005 until 31st December 2009. Parameters that could influence the outcome of surgery were investigated. The following late complications were investigated: neopulmonary artery stenosis, neoaortic stenosis and regurgitation, as well as clinical signs of heart failure. Results Early postoperative mortality was 15.8% (9/57 patients). During follow-up (8 to 72 months, average 36.5 months) there were no lethal outcomes. On the last echocardiography examination, 73.2% patients had neoaortic regurgitation and 67.4% patients had neopulmonary regurgitation, but all of them were mild in intensity. Neopulmonary stenosis had 32.6% of patients, but only two had moderate or severe stenosis. No one had ischemic ECG changes. Three reinterventions were performed due to serious residual problems: surgical correction of neoaortic stenosis, surgical correction of neopulmonary stenosis and transcatether balloon dilatation for aortic reco-arctation. At the end of the follow-up period, only one of 46 consistently followed patients had signs of heart failure which required therapy (2.2%), while the majority of patients were without any symptoms and with good effort tolerance. Conclusion Arterial switch operation has been successfully performed at our institution, with acceptable perioperative mortality and excellent late outcome. © 2014, Serbia Medical Society. All rights reserved.

22q11.2 microdeletion is the most common microdeletion in humans. The purpose of this study was to evaluate postoperative outcome in children with 22q11.2 microdeletion who had undergone complete surgical correction of a congenital heart defect. The study included 34 patients who underwent complete correction of conotruncal heart defects. Of these, 17 patients diagnosed with 22q11.2 microdeletion represent the investigated group. Another 17 patients without 22q11.2 microdeletion represent the control group. Investigated and control groups differ significantly for total length of stay in the hospital (average 37.35 and 14.12 days, respectively); length of postoperative stay in the intensive care unit (average 10.82 and 6.76 days, respectively); sepsis (eight and two patients, respectively); administration of antibiotics (15 and seven patients, respectively); duration of antibiotic therapy (average 17.65 and 14.59 days, respectively); occurrence of hypocalcemia (16 and 0 patients, respectively); and initiation of peroral nutrition during the postoperative course (average 10.29 and 3.88 days, respectively). No difference was found for duration of ventilatory support (average 6.12 and 4.24 days, respectively), administration of total parenteral nutrition, and postoperative mortality rate. The study results suggest that genotype of 22q11.2 microdeletion affects postoperative outcome after cardiac surgery. Possible targets for intervention in postoperative intensive care management are prevention and treatment of systemic infections, monitoring, and treatment of hypocalcemias, rational administration of antibiotics and careful planning of nutrition. Consequently, this could shorten patients’ intensive care stay and overall duration of hospitalization. © 2017, Springer Science+Business Media, LLC.

Introduction Diagnosis of neonatal coarctation of the aorta (CoA) still presents a challenge in routine practice because of absence of reliable morphologic and functional parameters for early detection of this congenital heart defect in newborns. Objective The aim of this study is to identify easy obtainable two-dimensional echocardiographic parameters for detection of the CoA in newborns. Methods Echocardiographic evaluation was performed in 30 newborns with CoA and 20 healthy neonates (control group). Measurements of the proximal transverse arch (PTA), distal transverse arch (DTA), isthmus, distance between the left common carotid artery (LCCA) at the origin of the left subclavian artery (LSA), were obtained by two-dimensional echocardiography. Aortic arch hypoplasia was defined using Mouleart, Karl and Mee criteria, and Z-value. Index 1 was calculated as a ratio of DTA and distance between origins LCCA-LSA, Index 2 was calculated as a ratio of the ascending aorta and the distance between LCCA-LSA origins, and Index 3 was calculated as a ratio of PTA and distance between LCCA-LSA origins. Results Index 1 was significantly lower in patients with CoA in comparison with control group (0.50 vs. 1.39; p≤0.01). A cutoff point at 0.39, for Index 1, showed a sensitivity of 92% and specificity of 99% for the diagnosis of neonatal CoA, while cut off points at 0.69 and 0.44, for Index 2 and Index 3, showed the highest sensitivity and specificity for the diagnosis of CoA in newborns. Conclusion By using these echo indexes, two-dimensional echocardiographic aortic arch measurement becomes a simple, reliable noninvasive method for the evaluation of aortic coarctation in newborns and may lead to earlier diagnosis and subsequent surgical correction. © 2015 Serbia Medical Society. All rightsreserved.