Sara Bertok
YOU?
Author Swipe
Sudden Death of a Four-Day-Old Newborn Due to Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiencies and a Systematic Literature Review of Early Deaths of Neonates with Fatty Acid Oxidation Disorders Open
Mitochondrial trifunctional protein (MTP) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiencies have been a part of the Slovenian newborn screening (NBS) program since 2018. We describe a case of early lethal presentation of …
View article: The Role of the MTUS1 Gene in the Development of Left Ventricular Noncompaction Cardiomyopathy—A Case Report
The Role of the MTUS1 Gene in the Development of Left Ventricular Noncompaction Cardiomyopathy—A Case Report Open
Background/Objectives: The microtubule-associated scaffold protein 1 (MTUS1) gene affects the microtubule stability and cell polarity in the heart and could thus lead to the development of left ventricular noncompaction (LVNC). Pathologica…
VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome—case report and systematic review Open
Background Arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome, a rare autosomal recessive disorder, exhibits genetic heterogeneity with the VIPAS39 gene pathological variants being a distinct contributor. Results We present two re…
The Genetic Architecture of Congenital Heart Disease in Neonatal Intensive Care Unit Patients—The Experience of University Medical Centre, Ljubljana Open
Congenital heart disease (CHD) is the most commonly detected congenital anomaly and affects up to 1% of all live-born neonates. Current guidelines support the use of chromosomal microarray analysis (CMA) and next-generation sequencing (NGS…
Genetic Architecture of CHD in NICU patients – UMC Ljubljana Experience Open
Congenital heart disease (CHD) is the most commonly detected congenital anomaly and affects up to 1 % of all live-born neonates. Current guidelines support the use of Chromosomal Microarray Analysis (CMA) and Next Generation Sequencing (NG…
Non-alcoholic fatty liver disease in a pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novel APOB variant: a case report and systematic literature review Open
Background Familial hypobetalipoproteinemia (FHBL) is an autosomal semi-dominant disorder usually caused by variants in the APOB gene that frequently interferes with protein length. Clinical manifestations include malabsorption, non-alcoho…
Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency Open
Objective To analyze the mutational spectrum, clinical characteristics, genotype–phenotype correlations, testicular adrenal rests tumor prevalence, and role of neonatal screening in congenital adrenal hyperplasia (CAH) patients from Slovak…
Challenges in establishing optimal pediatric palliative care at the university hospital in Slovenia Open
The integration of pediatric palliative care (PPC) should become a standard of care for all children with life-limiting and life-threatening illnesses. There are many barriers and misperceptions in pediatrics which hinder the early impleme…
Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A Open
BACKGROUND Niemann-Pick disease (NPD) type A is an autosomal recessive lipid storage disorder caused by acid sphingomyelinase deficiency due to a mutation in the SMPD1 gene. Type A is the most severe phenotype of NPD, with early onset in i…
View article: Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals
Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals Open
Importance Uncombable hair syndrome (UHS) is a rare hair shaft anomaly that manifests during infancy and is characterized by dry, frizzy, and wiry hair that cannot be combed flat. Only about 100 known cases have been reported so far. Objec…
An Adolescent Boy with Klinefelter Syndrome and 47,XXY/46,XX Mosaicism: Case Report and Review of Literature Open
Klinefelter syndrome is the most commonly reported sex chromosome abnormality. It is heavily underdiagnosed due to the substantial variability of clinical presentations but is generally characterized by small, firm testes, hypergonadotropi…
Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency Open
Nicotinamide nucleotide transhydrogenase (NNT) deficiency causes primary adrenal insufficiency (PAI) and possibly some extra-adrenal manifestations. A limited number of these patients were previously described. We present the clinical and …
Genetic Variability in Slovenian Cohort of Patients with Oculocutaneous Albinism Open
Oculocutaneous albinism (OCA) is an inherited disorder affecting the visual system and skin pigmentation. Our aim was to evaluate genetic and clinical heterogeneity in a cohort of Slovenian paediatric patients with clinically suspected OCA…
Novel Insights Into Monogenic Obesity Syndrome Due to INPP5E Gene Variant: A Case Report of a Female Patient Open
A Caucasian girl with consanguineous parents presented with early severe obesity and retinal dystrophy. A novel, homozygous gene truncating variant (c.1897C>T) in the INPP5E gene confirmed the diagnosis of MORMS (OMIM #610156). A novel cli…
View article: A novel mutation of congenital nephrotic syndrome in a Slovenian child eventually receiving a renal transplant
A novel mutation of congenital nephrotic syndrome in a Slovenian child eventually receiving a renal transplant Open
Congenital nephrotic syndrome (CNS) is a rare disease defined as heavy proteinuria, hypoalbuminemia, hyperlipidemia, and edema presenting in the first three months of life. It is most commonly caused by mutations in the NPHS1 gene associat…
High frequency of pathogenic ACAN variants including an intragenic deletion in selected individuals with short stature Open
Context Defining the underlying etiology of idiopathic short stature (ISS) improves the overall management of an individual. Objective To assess the frequency of pathogenic ACAN variants in selected individuals. Design The single-center co…
Medium-chain acyl-CoA dehydrogenase deficiency: Two novel <i>ACADM</i> mutations identified in a retrospective screening Open
Objective The aim of this study was to determine whether an expanded newborn screening programme, which is not yet available in Slovenia, would have detected the first two patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency…
Characterization of a de novo sSMC 17 detected in a girl with developmental delay and dysmorphic features Open
The proband's microduplication encompassed approximately 40 annotated genes, several of which have been associated with phenotypic characteristics of the proband. This is the first report of sSMC 17 including this particular chromosomal re…
A New Case of an Extremely Rare 3p21.31 Interstitial Deletion Open
Interstitial 3p21.31 deletions have been very rarely reported. We describe a 7-year-old boy with global developmental delay, specific facial characteristics, hydronephrosis, and hypothyreosis with a de novo deletion of 3p21.31, encompassin…