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Kumorowicz-Czoch M.,Jagiellonian University | Madetko-Talowska A.,Jagiellonian University | Tylek-Lemanska D.,University Childrens Hospital of Cracow | Pietrzyk J.J.,Jagiellonian University | Starzyk J.,Jagiellonian University
Journal of Pediatric Endocrinology and Metabolism | Year: 2015

Introduction: Thyroid dysgenesis (TD) is the most common cause of congenital hypothyroidism (CH). Important genetic factors possibly contributing to TD etiologies include mutations of thyroid transcription factors and TSHR-encoding genes.Objective: Our objective was to determine multiplex ligation-dependent probe amplification (MLPA) utility in detecting the copy number changes in patients with CH and TD.Methods: The study included 45 children from southeastern Poland selected via already established neonatal screening for CH. Genomic DNA was extracted from peripheral blood samples and used in MLPA analysis. Genetic variations were analyzed within selected fragments of the PAX8, FOXE1, NKX2-1, thyroid stimulating hormone receptor (TSHR), and TPO genes.Results: Three heterozygous deletion types in probe hybridization regions were identified for the following genes: PAX8 (exon 7), TSHR (exon 2), and FOXE1 (exon 1). Monoallelic deletions were identified in 5/45 TD subjects.Conclusions: MLPA is a useful tool for copy number changes detection and might both improve and expand genetic analysis for CH and TD.


Fafara-Les A.,Jagiellonian University | Fafara-Les A.,University Childrens Hospital of Cracow | Kwiatkowski S.,Jagiellonian University | Marynczak L.,Jagiellonian University | And 4 more authors.
Child's Nervous System | Year: 2014

Background: Torticollis, despite being well-known neurological manifestation, is often underestimated as a first symptom of the abnormalities of posterior cranial cavity and cervical spinal cord. Objectives: The purpose of this study is to analyze the occurrence of acquired torticollis in children as a herald sign of the tumors of the cervical spinal cord or of the posterior fossa. Methods: Clinical records of 54 cases treated for the tumor of the cervical spinal cord or posterior fossa (including congenital ones) were retrospectively reviewed. The following data were calculated: the occurrence of the torticollis as a first sign of tumors, the duration time from the onset of the symptoms to diagnosis, the concurrence of other pathological symptoms, and the diminishing of symptoms of the torticollis following treatment. Results: In 12/54 (22.2 %) torticollis was first sign of central nervous system tumor and in all of them preceded other neurological symptoms. The time from the onset of torticollis to establishing diagnosis ranged from 2 to 52 weeks (9.6 weeks on average). Eleven of twelve patients were treated surgically - in 10 of them, torticollis disappeared in the postoperative course. Conclusions: Torticollis may be a herald sign of the tumor of the cervical spinal cord or the posterior fossa. Those pathologies should be considered in the differential diagnosis of the torticollis, particularly if accompanied by other symptoms of the focal pathology of central nervous system. Awareness of this fact may shorten the time to establish the proper diagnosis. Torticollis necessitates exclusion of the posterior fossa and spinal cord tumor. © 2013 Springer-Verlag.


Miklaszewska M.,Jagiellonian University | Korohoda P.,AGH University of Science and Technology | Zachwieja K.,Jagiellonian University | Mroczek T.,Jagiellonian University | And 4 more authors.
Advances in Clinical and Experimental Medicine | Year: 2013

Background. Cardiosurgical operations in cardiopulmonary bypass (CPB) constitute a risk of acute kidney injury (AKI). Objectives. The aim of the study was an assessment of AKI risk in children within the first 24 hours after CPB cardiac surgery, evaluating serum interleukin 6 (sIL6). Material and Methods. The study included 47 children with congenital heart disease operated in CPB. Blood samples were taken before the procedure (0 hour) as well as at 2, 6, 12, 18 and 24 hours after the operation. Results. AKI was confirmed in 19 children. The mean sIL6 concentration in the AKI compared with non-AKI group was: 180.6 vs. 93.7; p = 0.0017. The maximum sIL6 in the AKI group was obtained at 2 hrs after CPB (350.36 pg/ml). Logistic regression analysis for AKI development depending on the value of sIL6 at 2 hrs after CPB proved that every rise of sIL6 by 100 pg/ml increased the chance of AKI development by 70% (p = 0.0161). With every circulatory arrest time prolongation by 10 minutes for a given sIL6 concentration, the chance of AKI development increased by 47% (p = 0.0407). AKI risk at 2 hrs after CPB, for a sIL6 cut-off point amounting to 185 pg/ml, increased more than 3-fold (AUROC - 68%). Conclusions. Determining sIL6 in children after cardiosurgical operations at 2 hrs after the procedure constitutes a good, yet not a perfect marker of AKI risk development. Nomograms of the constant risk values of AKI were worked out presenting the ranges of values in relation to serum IL6 concentrations and the child's body mass, age and the time of circulatory arrest. © Copyright by Wroclaw Medical University.


Sulko J.,Oddzial Ortopedyczno Urazowy | Oberc A.,University Childrens Hospital of Cracow
Ortopedia Traumatologia Rehabilitacja | Year: 2014

Background. Capitellar fractures are extremely rare. The Polish literature does not provide any reports on the treatment of these fractures. The aim of this paper is to present our treatment results and to compare them with reports from other authors. Material and methods. We investigated a group of 9 patients aged 7-17 years (mean age 14 years). One patient (11%) had sustained a non-displaced fracture, while 8 (89%) had sustained fractures with more than 2 mm displacement. According to the type of fracture, one patient was treated conservatively and the others underwent surgical treatment. In the children who were operated on, the humeral capitulum was fixed with a bioabsorbable pin in one patient and with K-wires in seven patients. Objective elbow function was evaluated using the Mayo Elbow Score (MES). Subjective elbow function was evaluated by patients on the basis of the Oxford Elbow Score (OES). Conclusions. 1. Non-displaced capitellar fractures should be treated conservatively. 2. Fractures with more than 2 mm displacement should be reduced surgically with percutaneous fixation with K-wires. © MEDSPORTPRESS.


Kumorowicz-Czoch M.,Jagiellonian University | Madetko-Talowska A.,Jagiellonian University | Dudek A.,Pediatric Endocrinology Outpatient Clinic | Tylek-Lemanska D.,University Childrens Hospital of Cracow
Journal of Pediatric Endocrinology and Metabolism | Year: 2015

Background: The morphological and biochemical phenotype of PAX8 mutation in patients with congenital hypothyroidism (CH) is variable. The contribution of mutations in PAX8 gene in children with CH and dysgenetic thyroid glands still remains a subject of interest for researchers. Patients and methods: Some 48 children (37 girls and 11 boys) with CH associated with thyroid ectopy (n=22), agenesis (n=10), hypoplasia (n=6), or thyroid dysgenesis of unknown cause (n=10) were enrolled. The study participants were born in south-eastern Poland in the years 1993-2012 and were selected for neonatal mass screening for CH. DNA was extracted from peripheral blood samples using Master Pure DNA Purification Kit (Epicentre Biotechnologies, Madison, WI, USA). The 12 exons of the PAX8 gene along with their exon-intron boundaries were amplified and sequenced by the Sanger method. Capillary electrophoresis was run on ABI 3500 (Applied Biosystems, Carlsbad, CA, USA). Results: Novel heterozygous transition in exon 3 (c.68G>A) was detected in a 3-year-old girl with a thyroid hypoplasia. This substitution was not identified in the patient's parents (de novo event). Additionally, a novel genetic variant in 3′UTR region of exon 12 (c.∗416C>T) occurred in a 3-year-old boy with ectopic thyroid tissue and concomitant congenital urogenital malformation. This heterozygous variant was also detected in other healthy family members. Thirteen well-described single nucleotide polymorphisms were revealed in the PAX8 gene. Conclusions: The study reports on the occurrence of two novel heterozygous substitutions in the PAX8 gene. Estimation of the contribution of the revealed c.68G>A variant to the etiology of CH in a girl with hypoplastic thyroid requires further functional analysis. © 2015 by De Gruyter.

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