A5077186729- Neonatal Health and Biochemistry
- Metabolism and Genetic Disorders
- Child and Adolescent Health
- Congenital Diaphragmatic Hernia Studies
- Viral gastroenteritis research and epidemiology
- Neonatal Respiratory Health Research
- Genetic Associations and Epidemiology
- Hemoglobinopathies and Related Disorders
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
- Digestive system and related health
- Vascular Malformations and Hemangiomas
- Methemoglobinemia and Tumor Lysis Syndrome
- Diet, Metabolism, and Disease
- Tumors and Oncological Cases
- Cancer-related molecular mechanisms research
- Folate and B Vitamins Research
- Tracheal and airway disorders
- Human Health and Disease
- Diabetic Foot Ulcer Assessment and Management
- Genetic and phenotypic traits in livestock
- Obesity, Physical Activity, Diet
- Hip disorders and treatments
- Congenital Anomalies and Fetal Surgery
- Ethics and Legal Issues in Pediatric Healthcare
- Regional Development and Management Studies
University of Split
2007-2023
Klinički Bolnički Centar Split
2012-2023
Public Health Institute
2019
University Hospital Centre Zagreb
2011
AimTo identify genetic variants underlying six anthropometric traits: body height, weight, mass index, brachial circumference, waist and hip using a genome-wide association study.MethodsThe study was carried out in the isolated population of island Korčula, Croatia, with 898 adult examinees who participated larger DNA-based epidemiological 2007. Anthropometric measurements followed standard internationally accepted procedures. Examinees were genotyped HumanHap 370CNV chip by Illumina, scan...
Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked disorder mainly manifesting in females. Patients show ocular, facial, cardiac, and dental abnormalities. OFCD caused by heterozygous mutations the BCOR gene, located Xp11.4, encoding BCL6 co-repressor. We report Croatian family with four female members (grandmother, mother monozygotic twins) diagnosed who carry novel mutation c.4438C>T (p.R1480*). They present high intrafamilial phenotypic variability special regard to cardiac...
AimTo test the association of NOS3 gene with hypoxic-ischemic encephalopathy (HIE).MethodsThe study included 110 unrelated term or preterm born children (69 boys and 41 girls) HIE 128 (60 68 without any neurological problems after second year life. Children perinatal fulfilled diagnostic criteria for asphyxia. All were admitted to Clinical Hospital Split between 1992 2008. We analyzed 6 tagging single nucleotide polymorphisms (SNP) within (rs3918186, rs3918188, rs1800783, rs1808593,...
Neonatal jaundice that occurs in ABO or Rhesus issoimunisation has been recognized as one of the major risk factors for development severe hyperbilirubinemia and bilirubin neurotoxicity.Aim our study was to investigate clinical laboratory parameters associated with hemolytic due Rh incompatibility compare results group unspecific jaundice.One hundred sixty seven (167) neonatal cases were included study, 24.6% which presented ABO/Rhesus type jaundice, rest jaundice. Evaluation included: blood...
Atherosclerosis is a pathological condition that begins in early childhood, but clinically the disease manifests older age. The aim of work was to determine frequency atherosclerosis risk factors healthy school children. Cross-sectional study included 214 children mean age 10,99+/-2,52 years, within range 7 15 years. Patients body mass index, blood pressure, lipid status, dietary habits, physical activity and sedentary habits have been evaluated. Cardiovascular are significantly present...
Abstract Background Nephrotic syndrome (NS) is pathological condition characterized by heavy proteinuria. Our study investigates hypothesis that change in cell proliferation of proximal tubules influences primary cilia structure and function promotes cystogenesis congenital nephrotic the Finnish type (CNF) focal segmental glomerulosclerosis (FSGS). Methods CNF kidneys were analyzed genetically. Proliferation (Ki-67), apoptosis (caspase-3), (α-tubulin) length immunohistochemically...
Hypertrophic pyloric stenosis is the most common cause of gastric outlet obstruction in infants, and classically presents at 2 to 6 weeks age. Delayed presentation an extremely rare occurrence after early infancy.A 14-weeks-old full term male infant presented with non-bilious vomiting, dehydration hypocloremic metabolic alkalosis. Abdominal ultrasonography revealed tubular mass 20 mm lenght. Because unusual age, diagnosis was confirmed upper gastrointestinal contrast study. Laparoscopic...
Krzelj, Vjekoslav MD, PhD; Petri, Nadan M. Mestrovic, Julije MSc; Andric, Dejan Biocic, Mihovil PhD Author Information
Abstract Background: Classic galactosemia is an autosomal recessive disorder of galactose metabolism caused by severely decreased activity galactose-1-phosphate uridylyltransferase (GALT) due to pathogenic mutations in the GALT gene. To date more than 330 have been described, with p.Q188R and p.K285N being most common Caucasian populations. Although acute manifestations can be fully avoided a galactose-restricted diet, chronic complications, such as neurological ones, cannot prevented...
Glucose-6-phospahte dehydrogenase deficiency (G6PD) is one of the most common inherited disorders affecting around 400 million people worldwide. Molecular analysis G6PD gene identified more than 140 distinct mutations, majority being single base missense mutations. Mediterranean variant found in populations area.The aim our study was to perform molecular characterization families from Republic Macedonia and correlate findings disease phenotype.Six patients seven other family members were...
Background: Neonatal hyperbilirubinemia is a common clinical manifestation of the inherited glucose-6-phosphate dehydrogenase (G6PD) deficiency.Aim study: The aim this study was to investigate influence G6PD deficiency on appearance neonatal in southern Croatia.Methods: fluorescent spot test (FST) used retrospective screen blood samples 513 male children who had hyperbilirubinemia, unknown cause, higher than 240 µmol/L.Fluorescence readings were performed at beginning and fifth tenth minute...