Correction: The genomic and clinical landscape of fetal akinesia.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Exome Sequencing and Identification of Phenocopies in Patients With Clinically Presumed Hereditary Nephropathies.

Rationale & Objective: Hereditary nephropathies are clinically and genetically heterogeneous disorders. For some patients, the clinical phenotype corresponds to a specific hereditary disease but genetic testing reveals that the expected genotype is not present (phenocopy). The aim of this study was to evaluate the spectrum and frequency of phenocopies identified by using exome sequencing in a cohort of patients who were clinically suspected to have hereditary kidney disorders.

A rare case report of autoimmune haemolytic anemia in a female child due to a Donath-Landsteiner antibody.

Paroxysmal cold hemoglobinuria is a rare form of autoimmune hemolytic anemia caused by the Donath-Landsteiner autoantibody. The condition is characterized by the presence of an IgG biphasic hemolysin with specificity to the P blood group antigen. The antibody biphasic action may be demonstrated in the Donath-Landsteiner test.

Factors associated with oxidative stress status in pediatric patients with type 1 diabetes mellitus.

Background Oxidative stress is implicated in both, the onset and the progression of type 1 diabetes mellitus (T1DM). There is accumulated evidence of increased biomarkers of oxidative stress in newly diagnosed, T1DM patients without complications, and in those with advanced disease. In this cross-sectional study, we investigated factors affecting oxidative stress status in pediatric patients with T1DM.

Complex karyotype with cryptic gene rearrangement and deletion of and genes in childhood B-cell acute lymphoblastic leukemia: A case report.

B-cell acute lymphoblastic leukemia (B-ALL) is a hematopoietic malignancy characterized by overproduction of immature B-lymphoblasts. B-ALL is the most common pediatric tumor and remains the leading cause of mortality in children and adolescents. Molecular and cytogenetic analyses of B-ALL revealed recurrent genetic and structural genomic alterations which are routinely applied for diagnosis, prognosis and choice of treatment regimen.

A Correlation Study of the Colorectal Cancer Statistics and Economic Indicators in Selected Balkan Countries.

Colorectal cancer (CRC) is one of the most commonly diagnosed malignant neoplasms. The aim of the study was to evaluate and correlate most important epidemiological and economic indicators of CRC in 11 selected Balkan countries. The number of new CRC cases was 56,960, and the highest 5-year CRC prevalence was in Slovenia, Croatia, and Greece.

Mediastinal teratoma presenting with respiratory distress and cardiogenic shock in a neonate.

Mediastinal teratomas are uncommon, fast-growing thoracic tumours, which are usually diagnosed in childhood or adolescence. Neonatal forms are the rarest and often present with life-threatening respiratory distress syndrome. In our case, respiratory failure in a neonate was aggravated by severe cardiogenic shock due to aortic and systemic venous compression, extreme heart displacement and rotation, necessitating an emergency operation on the first day of life.

Case-control study of primary hyperparathyroidism in juvenile vs. adult patients.

Objectives: Primary hyperparathyroidism in juveniles is extremely rare condition, but in the last few decades the incidence is increasing. The aim of this study was to compare biochemical and clinical characteristics of juvenile and adult primary hyperparathyroidism patients.

Methods: A retrospective case-control study was conducted from 2004 until 2017 in high volume endocrine surgery center.

Otopalatodigital Syndrome Type I: Novel Characteristics and Prenatal Manifestations in two Siblings.

Otopalatodigital spectrum disorder (OPDSD) is rare group of X-linked disorders caused by mutations in the filamin A () gene. It is characterized by skeletal dysplasia of variable severity and different extra skeletal manifestations. Its presentation in the fetal period is quite unspecific, so diagnosis is usually made after birth.

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%]).

Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?

Phenylketonuria (PKU) management is aimed at preventing neurocognitive and psychosocial dysfunction by keeping plasma phenylalanine concentrations within the recommended target range. It can be questioned, however, whether universal plasma phenylalanine target levels would result in optimal neurocognitive outcomes for all patients, as similar plasma phenylalanine concentrations do not seem to have the same consequences to the brain for each PKU individual. To better understand the inter-individual differences in brain vulnerability to high plasma phenylalanine concentrations, we aimed to identify untreated and/or late-diagnosed PKU patients with near-normal outcome, despite high plasma phenylalanine concentrations, who are still alive.

How Much Country Economy Influences ECC Profile in Serbian Children-A Macro-Level Factor Analysis.

Serbia has universal health coverage (UHC) for pediatric dental care and similar country distribution for dentists and physicians per 1,000 inhabitants. However, a high prevalence of early childhood caries (ECC) with wide variation across the country was observed in previous studies. This paper aimed to analyze the association between economic and healthcare country macro-level factors with ECC prevalence and treatment.

Does Colchicine Substitute Corticosteroids in Treatment of Idiopathic and Viral Pediatric Pericarditis?

: Recurrence of pericarditis (ROP) is an important complication of the acute pericarditis. The aim of this study was to analyse the influence of aetiology, clinical findings and treatment on the outcome of acute pericarditis. : Data were retrospectively collected from medical records of patients treated from 2011 to 2019 at a tertiary referent heart paediatric center.

Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib.

Background: Glycogen storage disease type Ib (GSD-Ib) is an inherited metabolic disorder caused by autosomal recessive mutations in SLC37A4 coding for the glucose-6-phosphate transporter. Neutropenia represents major feature of GSD-Ib along with metabolic disturbances. Previous research in GSD-Ib patients did not reveal significant genotype-phenotype correlation.

Changing epidemiology of the respiratory bacteriology of patients with cystic fibrosis-data from the European cystic fibrosis society patient registry.

Background: Monitoring changes in the epidemiology of cystic fibrosis (CF) pathogens is essential for clinical research, quality improvement, and clinical management.

Methods: We analyzed data reported to the European Cystic Fibrosis Society Patient Registry (ECFSPR) from 2011 to 2016 to determine the overall and the age-specific annual prevalence and incidence of selected CF pathogens and their trends during these years. The ECFSPR collects data on three chronic infections: Pseudomonas aeruginosa (PsA), Burkholderia cepacia complex Species (BCC) and Staphylococcus aureus (SA), as well as on the occurrence of non-tuberculous mycobacteria (NTM) and Stenotrophomonas maltophilia (SM).

Effects of high-intensity interval training and nutrition advice on cardiometabolic markers and aerobic fitness in adolescent girls with obesity.

The aim of the study was to compare the effects of high-intensity interval training (HIIT) and nutrition advice on cardiometabolic biomarkers, hormonal parameters, and cardiorespiratory fitness in adolescent girls with obesity. Adolescent girls with obesity ( = 44, aged 13-19 years) were randomized into a 12-week intervention as follows: () dietary advice and HIIT ( = 22), and () dietary advice only ( = 22). The concentration of biomarkers of inflammation, biochemical and hormonal testing, oral glucose tolerance test, cardiorespiratory fitness, physical activity levels, and nutrition were assessed.

Genotype phenotype correlation in a pediatric population with antithrombin deficiency.

Inherited antithrombin (AT) deficiency is a rare autosomal dominant disorder, caused by mutations in the AT gene (SERPINC1). Considering that the genotype phenotype relationship in AT deficiency patients remains unclear, especially in pediatric patients, the aim of our study was to evaluate genotype phenotype correlation in a Serbian pediatric population. A retrospective cohort study included 19 children younger than 18 years, from 15 Serbian families, with newly diagnosed AT deficiency.

Devastating Complications of Metal Strut Migration Following Pectus Excavatum Repair.

The modified Ravitch technique with metal struts and the Nuss operation have been the dominant operative techniques for treatment of pectus excavatum in the previous decades. We present devastating postoperative complications of a 16-year-old boy after the modified Ravitch procedure for a severe deformity utilizing two metal bars. Four months following surgery, one strut was removed after the displacement noted on a regular postoperative examination.

Case report of parathyroid carcinoma in a pediatric patient.

Parathyroid carcinoma is extremely rare in pediatric population. The authors report a case of 15-year-old girl with extremely elevated serum calcium (4.1 mmol/L) and parathyroid hormone (1170 pg/mL), with palpable neck mass.

Analysis of the Phenotypes in the Rett Networked Database.

Rett spectrum disorder is a progressive neurological disease and the most common genetic cause of intellectual disability in females. is the major causative gene. In addition, and mutations have been reported in Rett patients, especially with the atypical presentation.

CRISPR/Cas9 genome editing of SLC37A4 gene elucidates the role of molecular markers of endoplasmic reticulum stress and apoptosis in renal involvement in glycogen storage disease type Ib.

Glycogen storage disease type Ib (GSD Ib) is an autosomal recessive disorder, caused by a deficiency of ubiquitously expressed SLC37A4 protein. Deficiency of SLC37A4 leads to abnormal storage of glycogen in the liver and kidneys, resulting in long-term complications of renal disease and hepatocellular adenomas, whose mechanisms are poorly understood. Molecular markers of the adaptive responses to the metabolic stress caused by a deficiency of SLC37A4, such as markers related to the endoplasmic reticulum (ER) stress and unfolded protein response (UPR), have not been extensively studied.