Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Macimorelin in Children with Suspected Growth Hormone Deficiency: An Open-Label, Group Comparison, Dose-Escalation Trial.

Background/aims: Diagnosis of growth hormone deficiency (GHD) in children requires the use of provocative growth hormone (GH) stimulation tests, which can have limited reliability and are potentially contraindicated in some patients. This is the first paediatric study to test the safety, tolerability, and pharmacokinetics (PK)/pharmacodynamics (PD) of macimorelin, an oral GH secretagogue, approved for diagnosis of adult GHD.

Methods: In this open-label, group comparison, single-dose escalation trial (EudraCT 2018-001988-23), sequential cohorts of patients (C1-C3) received ascending single doses of macimorelin: 0.

Report of two siblings with APECED in Serbia: is there a founder effect of c.769C>T AIRE genotype?

Background: Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) or autoimmune polyglandular syndrome Type 1 is a rare autosomal recessive syndrome. The disorder is caused by mutations in the AIRE (AutoImmune Regulator) gene. According to the classic criteria, clinical diagnosis requires the presence of at least two of three main components: chronic mucocutaneous candidiasis, hypoparathyroidism and primary adrenal insufficiency.

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.

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.

Meta-analysis of cell- specific transcriptomic data using fuzzy c-means clustering discovers versatile viral responsive genes.

Background: Despite advances in the gene-set enrichment analysis methods; inadequate definitions of gene-sets cause a major limitation in the discovery of novel biological processes from the transcriptomic datasets. Typically, gene-sets are obtained from publicly available pathway databases, which contain generalized definitions frequently derived by manual curation. Recently unsupervised clustering algorithms have been proposed to identify gene-sets from transcriptomics datasets deposited in public domain.

A successful transition to sulfonylurea treatment in male infant with neonatal diabetes caused by the novel abcc8 gene mutation and three years follow-up.

Neonatal diabetes mellitus is a rare monogenic disease with incidence of 1/90,000 newborns. A case of two months aged male infant with life threatening diabetic ketoacidosis is presented with novel ABCC8 gene mutation (p.F577L), successful transition from insulin to sulfonylurea and follow-up of three years.

PathCellNet: Cell-type specific pathogen-response network explorer.

Pathogen specific immune response is a complex interplay between several innate and adaptive immune cell-types. Innate immune cells play a critical role in pathogen recognition and initiating the antigen specific adaptive immune response. Despite specific functional roles of the innate immune cells, they share several anti-viral pathways.

Epidemiology and structure of congenital anomalies of the newborns in the region of Novi Sad (Vojvodina, Serbia) in 1996 and 2006.

Background/aim: According to the World Health Organization (WHO) definition, congenital anomalies are all disorders of the organs or tissues, regardless of whether they are visible at birth or manifest in life, and are registered in the International Classification of Diseases. The aim of this study was to compare the incidence and structure of prenatally detected and clinically manifested congenital anomalies in the newborns in the region of Novi Sad (Province of Vojvodina, Serbia) in the two distant years (1996 and 2006).

Methods: This retrospective cohort study included all the children born at the Clinic for Gynecology and Obstetrics (Clinical Center of Vojvodina) in Novi Sad during 1996 and 2006.

[Idiopathic short stature].

Growth is a complex process and the basic characteristic of childhood growth monitoring provides insight into the physiological and pathological events in the body. Statistically, the short stature means departure from the values of height for age and sex (in a particular environment), which is below -2 standard deviation score, or less than -2 standard deviation, i.e.

Bilateral bloody nipple discharge in a male infant: sonographic findings and proposed diagnostic approach.

Bloody nipple discharge is an uncommon finding in the pediatric population, without clear diagnostic and therapeutic guidelines established. We noted a case of a 3-month-old male infant who presented with bilateral blood-stained nipple discharge, with unremarkable medical history. Sonographic findings revealed bilaterally dilated ducts and cysts with mixed iso- and hypoechoic intraductal content.

Vitiligo and thyroid dysfunction in children and adolescents.

The link between vitiligo and thyroid disease has been proved in adult patients. The aim of our study was to assess the prevalence of thyroid dysfunction in children and adolescents with vitiligo and to identify any predisposing factors of this association. This retrospective study included 75 children and adolescents with vitiligo: 47 (62.

Risk of the recurrent headache and migraine appearance within the family.

Aim: The aim of this research was to determine the risk for family appearance of the recurrent headache (non-migraine and migraine).

Methods: The research was conducted in Vojvodina, the Northern Province of Serbia. The population of Vojvodina is around 2 million people belonging to more than 20 different ethnic groups.

[Comparison of the established definition criteria for diagnosing metabolic syndrome between overweight and obese children in Vojvodina].

Background/aim: Metabolic syndrome is a clinical term which encompasses obesity, insulin resistance, dyslipidemia, hypertension, as well as an increased risk of the development of diabetes mellitus type 2 and cardiovascular disorders in early adulthood. The prevalence of metabolic syndrome is increasing and directly related to the obesity rate among children. The aim of the research was to compare the established definition of the criteria for diagnosing metabolic syndrome in a sample group consisting of overweight and obese children in Vojvodina.

Migraine in children-migraine syndrome in children of Vojvodina.

To assess the incidence of children with various types of migraine, an investigation was carried out from 1988 to 2008, on 30636 children (50.38% male, 49.62% female), in nine towns of the north province of Serbia.

[Congenital adrenal hyperplasia due to 21 hydroxylase deficiency--case report].

A girl with congenital adrenal hyperplasia due to 21 hydroxylase (CYP 21, p450c21) deficiency is the reviewed case. The clinical features (virilisation, clitoromegaly, rapid somatic growth, accelerated skeletal maturation) and laboratory findings (high levels of plasma 17hydroxy-progesterone, corticotrophin--ACTH, testosterone and dehydroepiandrostenedione--DHEA, low level of plasma cortisol, high level of urine 17-ketosteroids, synacthen and luteinising hormone releasing hormone--LHRH test) and the response to hydrocortisone therapy pointed at heterosexual gonadotrophin independent puberty due to irregular production of cortisol caused by 21 hydroxylase deficiency that leads to elevated ACTH and 17-hydroxy progesterone secretion and makes congenital adrenal hyperplasia as entity. The six-month therapy resulted in the clinical and laboratory findings improvement, such as the decreased annual growth of body height and the stagnation in the development of the secondary sexual features.

[A case report of pyridoxine-responsive homocystinuria].

Introduction: Homocystinuria is a rare, congenital, autosomal-recessive, metabolic disease biochemically characterized by homocysteinemia and homocystinuria and by multi-system clinical disorders. It is a biochemical abnormality of methionine metabolism caused either by transulfuration pathway disorders or by disorders of homocysteine remethilation into methionine and as such it can be a result of numerous specific and different genetic lesions.

Case Report: Homocystinuria is most commonly caused by deficiency of cystationine beta synthetase enzyme which catalyses the synthesis of cystathionine from homocysteine and serine in the methinione pathway.

Predictive value of biological markers in etiopathogenesis of juvenile diabetes--reviewing the role of insulin antibodies.

The lack of complete concordance for diseases in monozygotic twins prevents application of genetic markers for a thorough identification of the subjects who will develop the type I diabetes. Furthermore, the impact of the environmental factors precipitating beta cells destruction in genetically sensitive subjects has not been completely enlightened yet. The identification of high risk markers for the development of diabetes is aimed at detection of the early immune response activation markers.

[Meteorotropism in children with cerebral palsy].

Introduction: Members of the Rehabilitation team and families of children with cerebral palsy are daily engaged in various activities with these children. Weather changes (the atmospheric pressure especially) on particular days, cause difficult performance of anticipated therapeutic exercises, occupational therapy, speech therapy, education, daily living etc. The aim of this study was to underline the possible connection between performing daily activities of children with cerebral palsy and weather changes.

[Problems and perspectives in child health care].

Health care protection of children in Vojvodina is of particular importance regarding the negative natural birth rate. In spite of difficult economic situation, health care of children in Vojvodina is permanently carried out and would be significantly better in quality if the education of subspecialized personnel, space facilities, technological innovations, computerization and continuous education were available. Introduction of microanalytic laboratory techniques is essential for monitoring of prematures.

[Homocystinuria--biochemical, clinical and genetic aspects].

Homocystinuria is a rare autosomal recessive disease characterized by homocystinuria and multisystemic clinical disorders. The term denotes a biochemical abnormality of methionine metabolism caused both by transsulfuration pathway disorders and remethylation of homocysteine into methionine, and as such it can be a result of numerous specific and different genetic lesions. Homocystinuria is most commonly caused by deficiency of cystathionine beta-synthase (CBS) activity (EC 4.

[Bleeding in hemophilia as a function of meteorologic changes and the effect of tissue hormones].

Hemophilia is a hereditary coagulopathy which has the characteristic of bleeding into various tissues, particularly joints and muscles, bearing the risk of early invalidity. A lot of bleedings in children with hemophilia occur without any recognizable trauma, spontaneously and during the night. By comparing the frequency of bleeding in hemophiliacs with meteorological phenomena, and by the one year material revision of the Hematology Department of the Institute for Child Care in Novi Sad (Yugoslavia) as well as the simultaneous recording of barometric pressure, it was found that the increase of atmospheric pressure was strongly associated with spontaneous bleedings in hemophiliacs.

[The McCune-Albright syndrome with hyperthyroidism, acromegaly and hypophosphatemic-hyperphosphaturic rickets].

A girl was described with an unusual combination of McCune-Albright's syndrome (polyostotic fibrotic dysplasia, hyperpigmentations on the skin and precocious puberty) with hyperthyroidism, hypophosphatemic-hyperphosphaturic rickets and acromegaly. Although the pathogenetic mechanism involved in the development of this endocrinopathy in this syndrome is not quite clear, the achieved results, as well as data of other researchers, suggest that the endocrinological disorders in this syndrome are the result of either an increased sensitivity of periphery endocrine organs or/and of an autonomous hyperfunction (similar to multiple endocrine adenomatosis).

[Menarche in schoolgirls in Novi Sad].

Out of 947 examined schoolgirls aged 8.5-15 from the two schools in Novi Sad, 327 of them had menarche. Arithmetic mean value of the appearance of menarche was 12.