An unusual case of type I hyperlipidemia - infant with acute encephalopathy, bulging fontanel, vomiting and pink blood: a case report.

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.

Association of variants in AGTR1, ACE, MTHFR genes with microalbuminuria and risk factors for the onset of diabetic nephropathy in adolescents with type 1 diabetes in the population of Serbia.

Introduction: Genetic studies may provide valuable information about patients who are at high risk of developing diabetes nephropathy. Before the appearance of albuminuria, there are genetic mutations that can predispose the development of kidney disease.

Material And Methods: The study included 130 adolescents with type 1 diabetes.

Retinal Perfusion Analysis of Children with Diabetes Mellitus Type 1 Using Optical Coherence Tomography Angiography.

(1) Background: This study aims to evaluate retinal perfusion by optical coherence tomography angiography (OCTA) in pediatric patients with type 1 diabetes mellitus (T1D) without diabetic retinopathy (DR). (2) Methods: Thirty-one patients affected by T1D were enrolled. All participants were evaluated using OCTA.

Childhood obesity accelerates biological ageing: is oxidative stress a link?

Obesity is a multifactorial pathophysiological condition with an imbalance in biochemical, immunochemical, redox status and genetic parameters values. We aimed to estimate the connection between relative leucocyte telomere lengths (rLTL) - biomarker of cellular ageing with metabolic and redox status biomarkers values in a group of obese and lean children. The study includes 110 obese and 42 lean children and adolescents, both sexes.

Circulating Fatty Acids Associate with Metabolic Changes in Adolescents Living with Obesity.

Fatty acids play a crucial role in obesity development and in the comorbidities of obesity in both adults and children. This study aimed to assess the impact of circulating fatty acids on biomarkers of metabolic health of adolescents living with obesity. Parameters such as blood lipids, redox status, and leukocyte telomere length (rLTL) were measured alongside the proportions of individual fatty acids.

First report on the nationwide prevalence of paediatric type 1 diabetes in Serbia and temporal trends of diabetes ketoacidosis at diagnosis-a multicentre study.

We aimed to collect data on all paediatric patients who were diagnosed with type 1 diabetes mellitus (T1DM) between the years 2000 and 2019 in Serbia and estimate for the first time its prevalence. Also, the trends of diabetes ketoacidosis (DKA) occurrence at the time of diagnosis are monitored. We collected and retrospectively analysed the data of patients <19 years with newly diagnosed T1DM.

Single center study of 53 consecutive patients with pituitary stalk lesions.

Background: The etiological spectrum of pituitary stalk lesions (PSL) is wide and yet specific compared to the other diseases of the sellar and suprasellar region. Because of the pituitary stalk's (PS) critical location and role, biopsies of these lesions are rarely performed, and their underlying pathology is often a conundrum for clinicians. A pituitary MRI in association with a clinical context can facilitate their diagnosis.

The importance of combined NGS and MLPA genetic tests for differential diagnosis of maturity onset diabetes of the young.

Introduction: Maturity onset diabetes of the young (MODY) is a rare form of monogenic diabetes. Being clinically and genetically heterogeneous, it is often misdiagnosed as type 1 or type 2 diabetes, leading to inappropriate therapy. MODY is caused by a single gene mutation.

First report on the nationwide incidence of type 1 diabetes and ketoacidosis at onset in children in Serbia: a multicenter study.

Unlabelled: Data regarding incidence of type 1 diabetes (T1DM), as well as data on frequency and severity of diabetic ketoacidosis (DKA) at the time of T1DM diagnosis is of paramount importance for national and regional healthcare planning. The aim of present multicenter study was to provide the first report regarding nationwide annual incidence rates for T1DM in youth in Serbia, as well as prevalence of DKA at the time of diagnosis. Data on all pediatric patients with newly diagnosed T1DM was retrospectively collected from all 15 regional centers for pediatric diabetes in Serbia during the period 2007-2017.

Problems in diabetes managment in school setting in children and adolescents with type 1 diabetes in Serbia.

Results: The obtained results show that not all children test blood glucose levels at school (50% of children in the 6-10-year-old age group and 67.3% in the age group over 11 years) and that not all children receive insulin at school (81.1% vs.

Neonatal Outcome in Pregnancies with Autoimmune Myasthenia Gravis.

Introduction: Acquired autoimmune myasthenia gravis (MG) is an autoimmune process in which antibodies (AB) directed against the acetylcholine nicotinic receptor (AChR) cause weakness and fatigue of striated muscles.

Objectives: The objective of this study was to determine the range of clinical manifestations in newborns with transient neonatal myasthenia (TNM).

Methods: 62 newborns with mothers who had autoimmune MG were followed by: anthropometric parameters, gestational age, gender, type of delivery completion, Apgar score (AS) in the first and fifth minute, and the emergence of TNM symptoms.

Duration of valproic acid monotherapy correlates with subclinical thyroid dysfunction in children with epilepsy.

To identify potential risk factors for the development of subclinical hypothyroidism following long-term valproic acid monotherapy in children with epilepsy. Serum levels of thyroid-stimulating hormone, free thyroxine, free triiodothyronine, thyreoglobulin antibodies, and thyroid peroxidase antibodies were determined in 41 patients and in 41 sex- and age-matched healthy children. Mean valproic acid treatment duration was 2.

Prophylactic thyroidectomy for asymptomatic 3-year-old boy with positive multiple endocrine neoplasia type 2A mutation (codon 634).

Introduction: The multiple endocrine neoplasia type 2A (MEN 2A) syndrome, comprising medullary thyroid carcinoma (MTC), pheochromocytoma and primary hyperparathyroidism (PHPT) is most frequently caused by codon 634 activating mutations of the RET (rearranged during transfection) proto-oncogene on chromosome 10. For this codon-mutation carriers, earlier thyroidectomy (before the age of 5 years) would be advantageous in limiting the potential for the development of MTC as well as parathyroid adenomas.

Case Outline: This is a case report of 3-year-old boy from the MEN 2A family (the boy's father and grandmother and paternal aunt) in which cysteine substitutes for phenylalanine at codon 634 in exon 11 of the RET proto-oncogene, who underwent thyroidectomy solely on the basis of genetic information.

The effect of metabolic and hormonal parameters on microalbuminuria in adolescents with type 1 diabetes mellitus.

Introduction: The prevalence of microalbuminuria (MA), the most important early marker of incipient nephropathy in patients with type 1 diabetes mellitus (T1DM), increases during puberty, the period of exaggerated physiological insulin resistance.

Objective: To assess the prevalence of MA and the relationship between MA and metabolic risk factors and pubertal hormones in adolescents with T1DM.

Methods: In a cross-section study involving a group of 100 adolescents of both sexes of mean age 14.

Ketoacidosis at presentation of type 1 diabetes mellitus in children: a retrospective 20-year experience from a tertiary care hospital in Serbia.

Unlabelled: Diabetic ketoacidosis (DKA) has significant morbidity and mortality and is common at diagnosis in children. The aim of this study was to determine the frequency and clinical characteristics of DKA over a 20-year period among children diagnosed with type 1 diabetes mellitus (T1DM) at University children's hospital in Belgrade, Serbia. The study population comprised of 720 patients (366 boys) diagnosed with type 1 diabetes aged <18 years between January 1992 and December 2011.

Microalbuminuria in relation to metabolic control and blood pressure in adolescents with type 1 diabetes.

Introduction: The objective of this study was to assess the frequency of microalbuminuria and the relationship with other risk factors for the development of diabetic nephropathy.

Material And Methods: Our cross-section study involved a group of 60 adolescence of both sexes, mean age 15.3 ±2.

Successful sulfonylurea treatment of a neonate with neonatal diabetes mellitus due to a new KCNJ11 mutation.

Mutations in the KCNJ11 gene, which encodes the Kir6.2 subunit of the ATP-sensitive potassium channel, often result in neonatal diabetes. We describe a female neonate who is a heterozygous for a new missense mutation, V252L, in the KCNJ11 gene and who has been successfully transitioned from insulin to sulfonylurea therapy.

Reference values of capillary blood saturation in neonates and its difference from pulse oximetry.

Introduction: Haemoglobin saturation is an obligatory oxygen parameter in the assessment of neonatal oxygenation. Although, pulse oximetry is currently one of the major methods in the determination of haemoglobin saturation, capillary blood saturation is still present in the diagnostic process. As well known, haemoglobin saturation value of capillary blood is insufficiently accurate, but not as much as the difference in relation to the values determined by pulse oximetry.

[IPEX syndrome--case report].

Introduction: IPEX syndrome, namely, a hereditary (X-linked) immunodysregulation with autoimmune polyendocrinopathy and enteropathy, as the basic manifestations, presents a rare and exceptionally severe disease. It develops due to gene mutation responsible for the synthesis of a specific protein (FOXP3), which, by differentiation and activation of regular T-lymphocytic CD4+CD25+, has the key role in the induction and maintenance of the peripheral tolerance of one's own tissue.

Case Outline: We present a male infant with classic clinical features of IPEX syndrome, which manifested by the end of the first month after birth, first with type 1 diabetes mellitus and chronic diarrhoea followed by dehydration and disordered development, and then with facial eczema and laboratory signs of thyroiditis without thyroid dysfunction (antithyreoglobulin antibodies 1:5500, antimicrosomal antibodies 1:40).

A case of new mutation in maturity-onset diabetes of the young type 3 (MODY 3) responsive to a low dose of sulphonylurea.

We describe a girl aged 10.5 years with hyperglycemia, whose mother and maternal father had insulin treated diabetes since adolescence. Using genetic analysis in mother and child, we identified identical new mutation of the HNF-1alpha sequence.

[Transient neonatal pseudohypoparathyroidism].

Introduction: Pseudohypoparathyroidism (PHP) is a heterogeneous group of diseases characterized by end organ unresponsiveness to parathormone (PTH), due to receptor or postreceptor defects. The characteristic biochemical disturbances include hypocalcaemia, hyperphosphataemia and high serum parathormone levels.

Case Outline: We present a 17-day-old male baby who was brought to our hospital because of seizures.

[New aspects of etiopathogenesis and clinical characteristics of diabetes mellitus type 1 in children].

Apparent increase of the incidence of childhood diabetes mellitus has been observed in many countries over the last decades. Data of seasonality are not consistent, especially in younger group. The triggering of the autoimmune process in genetically susceptible individuals may be the result of a variety of environmental factors including viral infections, specific nutrients, early introduction of cow's milk proteins and ingestion of nitrosamines, stress-inducing events, early perinatal lesions.

[Rubinstein-Taybi syndrome].

Rubinstein-Taybi syndrome is a malformation occurring with approximate incidence of 1 per 10,000 live-born children. The diagnosis is usually based on specific facial dysmorphism in neonatal period, as well as on characteristic deformities of the hands and feet. Our study presents a male child who was diagnosed to have Rubinstein-Taybi syndrome when he was one month old.