94 results match your criteria: "a Mother and Child Health Care Institute of Serbia "Dr Vukan Cupic[Affiliation]"

Double pseudoaneurysms of the aortic bulbus after aortic valve replacement surgery.

Kardiochir Torakochirurgia Pol

October 2019

Department of Cardiology, Mother and Child Health Care Institute of Serbia "Dr Vukan Cupic", Belgrade, Serbia; School of Medicine, University of Belgrade, Belgrade, Serbia.

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Article Synopsis
  • - The study investigates the genetic factors behind fetal akinesia (FA) by analyzing 51 patients from 47 families using next-generation sequencing (NGS) techniques, aiming to improve understanding of the condition.
  • - Researchers identified likely pathogenic gene variants in 37 cases, reporting a total of 41 novel variants and 14 new disease-gene associations specifically linked to fetal akinesia.
  • - The findings highlight that certain genetic defects, particularly in the genes associated with skeletal muscle diseases, may be underdiagnosed, leading to important recommendations for further research on novel genes linked to FA.
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: 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.

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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.

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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.

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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.

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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.

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Immunohistochemical analysis of cyclin A expression in Wilms tumor.

PeerJ

January 2019

Laboratory of Molecular Biology and Endocrinology, Vinča Institute of Nuclear Sciences, University of Belgrade, Belgrade, Serbia.

Background: Cyclin A overexpression is found in a variety of human tumors and correlates with unfavorable outcome. We analyzed immunohistochemical expression of cyclin A in Wilms tumor (WT) in relation to clinicopathological characteristics, preoperative chemotherapy (PrOpChTh), and overall survival (OS).

Methods: This retrospective study involved 43 patients who underwent nephrectomy from January 1996 to October 2010.

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Objectives: To evaluate the level of health-related quality of life (QoL) and presence of anxiety and depressive symptoms in Serbian children with celiac disease from the perspective of patients and their parents.

Methods: This cross-sectional study investigated the group of children and adolescents with celiac disease aged 5-18 y, and at least one parent of each patient with celiac disease. The patients and their parents were recruited at the Institute of Mother and Child Health of Serbia and the University Children's Hospital in Belgrade.

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Background And Aims: Dyslipidemia in type 1 diabetes mellitus (T1DM) is characterised by altered distributions of low-density lipoprotein (LDL) and high-density lipoprotein (HDL) subclasses. Recent studies suggested that proprotein convertase subtilisin/kexin 9 (PCSK9) may contribute to the development of dyslipidemia in T1DM. In this cross-sectional study, we investigated the association between PCSK9 and lipoprotein subclasses in young T1DM patients, with respect to glycemic control.

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Background The aim of the study was to evaluate high-sensitivity C-reactive protein (hs-CRP) and fibrinogen in non-obese normoinsulinemic adolescent girls with polycystic ovary syndrome (PCOS) and their relationship with anthropometric and lipid parameters. Methods The study comprised a total of 26 adolescent girls newly diagnosed with PCOS and 12 healthy controls with regular ovulatory menstrual cycles. The concentration of hs-CRP, fibrinogen, anthropometric measurements, and biochemical and hormonal testing were assessed.

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Article Synopsis
  • Primary ciliary dyskinesia (PCD) is a rare genetic disorder that affects the lungs and causes problems like frequent infections and hearing loss.
  • Researchers studied 21 patients with PCD and found 18 different harmful genetic changes that could cause the disease in 11 of them.
  • They discovered that the DNAH5 gene was the most commonly affected, and they also identified some new potential genes related to PCD symptoms.
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Single center study of 53 consecutive patients with pituitary stalk lesions.

Pituitary

December 2018

Neuroendocrine Department, Clinic for Endocrinology, Diabetes and Metabolic Diseases, Clinical Center of Serbia, Dr Subotica 13, Belgrade, 11000, Serbia.

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.

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Can untreated PKU patients escape from intellectual disability? A systematic review.

Orphanet J Rare Dis

August 2018

University of Groningen, University Medical Center Groningen, Beatrix Children's Hospital, 9700, RB, Groningen, The Netherlands.

Background: Phenylketonuria (PKU) is often considered as the classical example of a genetic disorder in which severe symptoms can nowadays successfully be prevented by early diagnosis and treatment. In contrast, untreated or late-treated PKU is known to result in severe intellectual disability, seizures, and behavioral disturbances. Rarely, however, untreated or late-diagnosed PKU patients with high plasma phenylalanine concentrations have been reported to escape from intellectual disability.

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The aim of this study was to evaluate the contribution of plasmid-mediated genes and efflux to fluoroquinolone resistance in collection of Achromobacter spp. gathered during a 3-year period. Susceptibility to ciprofloxacin and levofloxacin was tested by disk diffusion and microdilution tests for a collection of 98 Achromobacter spp.

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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.

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Treatment with tetrahydrobiopterin (BH4) is the latest therapeutic option approved for patients with phenylketonuria (PKU)-one of the most frequent inborn metabolic diseases. PKU or phenylalanine hydroxylase (PAH) deficiency is caused by mutations in the PAH gene. Given that some PAH mutations are responsive to BH4 treatment while others are non-responsive, for every novel mutation that is discovered it is essential to confirm its pathogenic effect and to assess its responsiveness to a BH4 treatment in vitro, before the drug is administered to patients.

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Objective: Paediatric patients with type 1 diabetes mellitus (T1DM) frequently develop other autoimmune disorders; most commonly autoimmune thyroiditis (ATD) and celiac disease (CD). In this study we evaluated whether co-existing autoimmune diseases had significant impact on lipid and lipoprotein subclasses, as known cardiovascular risk factors in T1DM.

Design And Methods: Study included 201 subjects with T1DM (14.

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Purpose: To compare the holmium-laser puncture and electrosurgery-incision in neonates with intravesical ureterocele.

Materials And Methods: We retrospectively analyzed the results of laser-puncture of ureterocele (LP group) in 12 patients (mean age 9.8 days, range 4-28) and electrosurgery-incision in 20 patients (ES group) (mean age 10.

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Ostojic S, Vukovic R, Milenkovic T, Mitrovic K, Djuric M, Nikolic L. Alpha coma in an adolescent with diabetic ketoacidosis. Turk J Pediatr 2017; 59: 318-321.

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Background: The dichotomous nature of the current definition of metabolic syndrome (MS) in youth results in loss of information. On the other hand, the calculation of continuous MS scores using standardized residuals in linear regression (Z scores) or factor scores of principal component analysis (PCA) is highly impractical for clinical use. Recently, a novel, easily calculated continuous MS score called siMS score was developed based on the IDF MS criteria for the adult population.

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Novel intragenic deletions within the UBE3A gene in two unrelated patients with Angelman syndrome: case report and review of the literature.

BMC Med Genet

November 2017

Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, Parc del Taulí 1, 08208, Barcelona, Sabadell, Spain.

Background: Patients with Angelman syndrome (AS) are affected by severe intellectual disability with absence of speech, distinctive dysmorphic craniofacial features, ataxia and a characteristic behavioral phenotype. AS is caused by the lack of expression in neurons of the UBE3A gene, which is located in the 15q11.2-q13 imprinted region.

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Glycogen storage disease (GSD) type I is inborn metabolic disease characterized by accumulation of glycogen in multiple organs. We analyzed 38 patients with clinical suspicion of GSD I using Sanger and next-generation sequencing (NGS). We identified 28 GSD Ib and 5 GSD Ia patients.

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Virulence traits associated with ST856 epidemic strain isolated from cystic fibrosis patients.

Antimicrob Resist Infect Control

June 2017

Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Vojvode Stepe 444a, P.O. Box 23, Belgrade, 11010 Serbia.

Background: is considered one of the most problematic cystic fibrosis (CF) pathogens. Colonization prevalence in the Serbian CF population is high and virtually exclusively limited to a single highly transmissible clone of ST856 which is positive for both the epidemic strain marker (BCESM) and cable pilin, and is closely related to the epidemic strain CZ1 (ST32).

Methods: Biofilm formation for 182 isolates, and adhesion to components of the host extracellular matrix, proteolytic activity, mucoidy and motility of selected ST856 representatives, as well as ST858 and ST859, and ST857, novel STs isolated from Serbian CF patients, were investigated in this study.

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Twenty-seven colistin-resistant, carbapenemase-producing isolates were identified from hospitals in Serbia. All isolates were positive; ST101, ST888, ST437, ST336, and ST307 were positive; and ST340 was positive. ST307 had an insertion, and ST336 had a premature stop codon in the gene.

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