The Impact of Chronic Magnesium Deficiency on Excitable Tissues-Translational Aspects.

Neuromuscular excitability is a vital body function, and Mg is an essential regulatory cation for the function of excitable membranes. Loss of Mg homeostasis disturbs fluxes of other cations across cell membranes, leading to pathophysiological electrogenesis, which can eventually cause vital threat to the patient. Chronic subclinical Mg deficiency is an increasingly prevalent condition in the general population.

Understanding hemoglobin contribution to high-dose methotrexate disposition-population pharmacokinetics in pediatric patients with hematological malignancies.

Purpose: The aim of the present study was to develop a population pharmacokinetic model for methotrexate (MTX) during high-dose treatment (HDMTX) in pediatric patients with acute lymphoblastic leukemia (ALL) and non-Hodgkin's lymphoma (NHL) and to describe the influence of variability factors.

Methods: The study included 50 patients of both sexes (aged 1-18 years) who received 3 or 5 g/m of HDMTX. A nonlinear mixed effect modeling approach was applied for data analysis.

"The Red Flags" in Clinical Approach to Acute Ataxia-the Experience in Cohort of 76 Children.

The aim of our study is to define the most frequent etiology, clinical presentation, and predictive factors of outcome in children with acute ataxia (AA) and to determine "the red flags" in the diagnostic approach to children with AA. The retrospective study included the patients with AA treated in the institute from 2015 to 2021. The inclusion criteria were children aged 1-18 years, evolution time of ataxia within 72 h, and diagnosis made by a physician.

Methotrexate concentrations and associated variability factors in high dose therapy of children with acute lymphoblastic leukemia and non-Hodgkin lymphoma.

Monitoring and optimization procedures improved high dose methotrexate (HDMTX) treatment outcomes. However, there are still some concerns regarding unexplained concentration variability. The objective of this study was to evaluate drug concentrations and associated variability factors in pediatric patients with acute lymphoblastic leukemia (ALL) and non-Hodgkin lymphoma (NHL) on HDMTX.

The Impact of the Gene on the Appearance of the Corpus Callosum Abnormalities in Incontinentia Pigmenti.

Incontinentia pigmenti (IP) is a rare skin disease combined with anomalies of the teeth, eyes, and central nervous system (CNS). Mutations of the gene are responsible for IP. Among the most frequent CNS abnormalities found in IP using magnetic resonance imaging (MRI) are corpus callosum (CC) abnormalities.

Provoked seizures at the onset of progressive disease contribute to diagnosis delay - A tertiary center experience in a cohort of 22 children with CLN2.

Purpose: The evaluation of epilepsy features and factors with impact to diagnosis delay in children with CLN2.

Method: The study included children with CLN2 treated from 2000 to 2020. Diagnosis was confirmed by: TPP1 deficiency and/or TPP1 gene mutation or pathognomonic electron microscopy findings.

Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry.

Objective: Congenital adrenal hyperplasia (CAH) requires exogenous steroid replacement. Treatment is commonly monitored by measuring 17-OH progesterone (17OHP) and androstenedione (D4).

Design: Retrospective cohort study using real-world data to evaluate 17OHP and D4 in relation to hydrocortisone (HC) dose in CAH patients treated in 14 countries.

Treatment of congenital adrenal hyperplasia in children aged 0-3 years: a retrospective multicenter analysis of salt supplementation, glucocorticoid and mineralocorticoid medication, growth and blood pressure.

Objectives: International guidelines recommend additional salt supplementation during infancy in classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. The influence of corticoid medication and growth has not been assessed.

Aim: To investigate the current use of salt supplementation, fludrocortisone (FC) and hydrocortisone (HC) dosage as well as weight, height, BMI and blood pressure (BP) in CAH children aged 0-3 years.

A case of juvenile CLN1- challenge in diagnosis and epilepsy treatment.

Classic onset of CLN1 disease is within the first year of life with developmental arrest, epilepsy and rapid progression. In an atypical variant of CLN1 disease onset is later in the juvenile epoch. Although epilepsy in the juvenile form of CLN1 often is less severe than in typical CLN1, treatment of seizures and status epilepticus may be challenging.

Managing CLN2 disease: a treatable neurodegenerative condition among other treatable early childhood epilepsies.

Introduction: Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare pediatric neurodegenerative condition, which is usually fatal by mid-adolescence. Seizures are one of the most common early symptoms of CLN2 disease, but patients often experience language deficits, movement disorders, and behavioral problems. Diagnosis of CLN2 disease is challenging (particularly when differentiating between early-onset developmental, metabolic, or epileptic syndromes), and diagnostic delays often overlap with rapid disease progression.

The improvement in diagnosis and epilepsy managing in children with progressive myoclonus epilepsy during the last decade - A tertiary center experience in cohort of 51 patients.

Unlabelled: The aim of the study was to explore whether diagnosis and managing children with progressive myoclonus epilepsy (PME) were improved during the last decade.

Methods: The retrospective study included children with PME treated in the Institute during the last 25 years. Investigation time was divided in two periods (groups): before December 2010 (the first group) and after this period up to December 2019 (the second group).

The features of neonatal seizures as predictors of drug-resistant epilepsy in children.

Purpose: The aim of this study was to evaluate the predictive value of the features of neonatal seizures for pharmacoresistant epilepsy in children.

Method: This is a retrospective study that involved all children diagnosed as having epilepsy who had neonatal seizures and who were hospitalized at the Neurology Department of the Mother and Child Healthcare Institute in Belgrade from January the 1st 2017 until December 31st 2017. The following parameters and their impact on the outcome were investigated: perinatal data, the characteristics of epileptic seizures in the neonatal period, and the response to anticonvulsant treatment.

Association of diabetic ketoacidosis and HbA1c at onset with year-three HbA1c in children and adolescents with type 1 diabetes: Data from the International SWEET Registry.

Objective: To establish whether diabetic ketoacidosis (DKA) or HbA1c at onset is associated with year-three HbA1c in children with type 1 diabetes (T1D).

Methods: Children with T1D from the SWEET registry, diagnosed <18 years, with documented clinical presentation, HbA1c at onset and follow-up were included. Participants were categorized according to T1D onset: (a) DKA (DKA with coma, DKA without coma, no DKA); (b) HbA1c at onset (low [<10%], medium [10 to <12%], high [≥12%]).

New-onset seizure presenting as status epilepticus: Etiology and clinical characteristics in a cohort of 236 children.

Purpose: Evaluation of the etiology, clinical characteristics and outcome of the first status epilepticus (fSE) event in children.

Method: The patients with fSE hospitalized in our Institute from 1995 to 2011 were included. The etiology was characterized as either known (symptomatic) or unknown (cryptogenic).

Long-term outcome in children with neonatal seizures: A tertiary center experience in cohort of 168 patients.

Purpose: The purpose of this study was to evaluate long-term outcome and assess predictors of prognosis in children with neonatal seizures (NS).

Method: This retrospective study includes children with NS treated at our Institute from January the 1st 2005 until December the 31st 2015. The data were collected from medical charts and the electroencephalogram (EEG) database at the Institute.

Quality of life and its correlates in adolescent multiple sclerosis patients.

Introduction: Measures of health-related quality of life (HRQOL) are considered to be more comprehensive in health outcome assessments than scales assessing only the degree of neurological deficit.

Objective: The aim of the study was to evaluate HRQOL and its correlates among adolescents with multiple sclerosis (MS) in Serbia.

Methods: Demographic, clinical, and patient-reported outcome data were collected for 21 adolescents with MS, aged 14-18 years.

Changes in the incidence and etiology of congenital hypothyroidism detected during 30 years of a screening program in central Serbia.

Unlabelled: Congenital hypothyroidism (CH) is the most frequent congenital endocrine disorder. The purpose of the present study was to determine the incidence of CH in Central Serbia from 1983 to 2013. Newborn screening for CH was based on measuring neonatal thyroid-stimulating hormone (TSH) using a 30 mU/l cutoff (CO) until 12/1987 (P1), 15 mU/l until 12/1997 (P2), 10 mU/l until 12/2006 (P3), and 9 mU/l thereafter (P4).

Etiology, clinical course and response to the treatment of status epilepticus in children: A 16-year single-center experience based on 602 episodes of status epilepticus.

Objective: evaluation of etiology, clinical course and response to the treatment of status epilepticus (SE) in children, with particular investigation of superrefractory SE.

Materials And Methods: The retrospective study included children with convulsive SE aged 0.2-18 years, treated from 1995 to 2011.

Relapsing inappropriate antidiuretic hormone secretion in an anti-aquaporin-4 antibody positive paediatric patient.

Paediatric patients with the syndrome of an inappropriate antidiuretic hormone secretion (SIADH), as a manifestation of inflammatory demyelinating disorders of the central nervous system, have been rarely described until now, in only a few cases of neuromyelitis optica spectrum disorders (NMOSDs). We present a case of relapsing SIADH associated with NMOSD, in an anti-aquaporin-4 antibody positive 14-year-old girl, who is, to our best knowledge, the first reported paediatric patient with relapsing SIADH and NMOSD. Additionally, our case further supports the notion that paediatric encephalomyelitis associated with SIADH should suggest the diagnosis of NMOSD.

Etiology, clinical features and outcome of epilepsia partialis continua in cohort of 51 children.

The objective of the study was to evaluate etiology, clinical characteristics and outcome in children with epilepsia partialis continua (EPC). The investigation included 51 children with EPC aged 0.2-18 years treated in the period 1993-2009.

Molecular analysis of ring y chromosome in a 10-year-old boy with mixed gonadal dysgenesis and growth hormone deficiency.

Ring Y chromosome is a very rare chromosomal aberration. The published mixed gonadal dysgenesis (MGD) patients with a ring Y chromosome are short in stature, but are not growth hormone (GH) deficient. We present the molecular cytogenetic and molecular characterization of ring Y chromosome mosaicism in a 10-year-old boy with MGD whose short stature could be explained by the high percentage of cells monosomic for the X-chromosome, but also by the presence of severe GH deficiency.