A5008635592- Genetics and Neurodevelopmental Disorders
- Epilepsy research and treatment
- Neonatal and fetal brain pathology
- Blood Coagulation and Thrombosis Mechanisms
- Cerebral Palsy and Movement Disorders
- Traumatic Brain Injury and Neurovascular Disturbances
- Cerebrospinal fluid and hydrocephalus
- Congenital heart defects research
- Venous Thromboembolism Diagnosis and Management
- Genomics and Rare Diseases
- Cytomegalovirus and herpesvirus research
- Migraine and Headache Studies
- Pregnancy and preeclampsia studies
- Cerebrovascular and genetic disorders
- Fetal and Pediatric Neurological Disorders
- Metabolism and Genetic Disorders
- Immunodeficiency and Autoimmune Disorders
- Neonatal Health and Biochemistry
- Vestibular and auditory disorders
- Acute Myeloid Leukemia Research
- Biochemical effects in animals
- Neurogenetic and Muscular Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Thyroid and Parathyroid Surgery
- Pneumothorax, Barotrauma, Emphysema
Children's Hospital Zagreb
2017-2025
University Hospital Centre Zagreb
2025
University of Zagreb
2021-2024
Klinika za psihijatriju Vrapče
2024
Pediatrics and Genetics
2023
Inherited bone marrow failure syndromes (IBMFS) are often misdiagnosed or lately diagnosed despite thorough medical assessment. Genomic investigations have largely facilitated correct diagnosis and enabled effective management in children with IBMFS. We present two unrelated adolescent females unexplained prolonged bicytopenia, unremarkable history normal physical findings who were a rare non-classical ERCC6L2-associatedIBMFS. ERCC6L2-associated disease has been so far frequently related to...
Tehnologija sekvenciranja sljedeće generacije (NGS, engl. next generation sequencing) omogućila je sekvenciranje više stotina gena, štoviše i cijelog genoma u jednom koraku što pokrenulo pravu revoluciju dijagnostici poremećaja s nasljednom podlogom. Pored dijagnostičke, NGS tehnologija značajne terapijske iskorake vidljivo na primjerima nasljednih za koje postoji ciljano liječenje (npr. epilepsije, metabolički poremećaji, maligne bolesti). Razvoju tehnologije uvelike doprinio napredak...
NOTCH3 encodes a transmembrane receptor critical for vascular smooth muscle cell function. variants are the leading cause of hereditary cerebral small vessel disease (SVD). While monoallelic cysteine-involving missense in well-studied autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), patients biallelic extremely rare not well characterised.
To evaluate visual impairment (VI) in children with cerebral palsy (CP).This population-based study included 419 from the Surveillance of Cerebral Palsy Europe (SCPE) C28 RCP-HR - Register Croatia born 2003-2008. Vision CP (according to SCPE) was classified as normal or impaired, subcategory severe VI. The proportion VI assessed groups different type/subtype, gross and fine motor function, gestational age (GA).A total 266 had some degree (266/400; 66.5%), 134 vision, data on were unknown for...
Recurrent copy number variants in the chromosomal region 16p11.2are among most frequent genetic causes of neurodevelopmental disorders.The increasing prevalence brain structural anomalies is also associated with 16p11.2deletions and duplications.We report on a fouryear-old boy microcephaly, trigonocephaly, dysmorphic features.The patient exhibited motor delay autism spectrum disorder.Microarray analysis showed single-copy gain 1.187 kb segment 16p12.1p11.2region two-copy 525...
Neurodevelopmental disorders are a large group of that affect ~ 3% children and represent serious health problem worldwide. Their etiology is multifactorial includes genetic, epigenetic, environmental causes. Mounting evidence shows the importance genetic causes, especially genes involved in central nervous system development. As recently discovered, KMT5B gene related to abnormal activities enzymes regulate histone activity expression during brain Pathogenic variants lead autosomal...
To determine the spectrum and frequency of disease-causing variants in patients with non-syndromic hearing loss (NSHL) to investigate diagnostic yield applied genetic methods.
Despite thorough medical assessment, diagnosis of inherited bone marrow failure syndrome (IBMFS) is often significantly delayed. Genomic investigations have been more used to facilitate correct and guide management in unexplained childhood cytopenias. We present two cases unrelated adolescent girls with bicytopenia, unremarkable history normal physical features who were diagnosed nonclassical IBMFS ( ERCC6L2) using genetic evaluation. ERCC6L2-associated disease has so far frequently related...
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Congenital cytomegalovirus infection (cCMV) is a common, frequently unrecognized cause of childhood disability. The aim the present study was to determine symptoms that raise suspicion cCMV, define neurodevelopmental outcomes, and assess their correlations.
Background/Objectives: Research on calcitonin gene-related peptide (CGRP) in adult migraine is extensive, but its role childhood remains unclear. This study aimed to evaluate serum CGRP levels children experiencing and tension-type headache (TTH) during interictal periods, comparing these age-matched healthy controls. Methods: A total of 66 patients, 59 with TTH, 53 controls were recruited strat-ified by onset age: under 7, 7-12, over 12 years. quantified using enzyme-linked immunosorbent...
Research on calcitonin-gene-related peptide (CGRP) in adult migraine is extensive, but its role childhood remains unclear. This study aimed to evaluate serum CGRP levels children experiencing and tension-type headache (TTH) during interictal periods, comparing these age-matched healthy controls.