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Krzysztof Szklanny, Ryszard Gubrynowicz, Katarzyna Iwanicka-Pronicka, Anna Tylki-Szymańska
BACKGROUND: Pompe disease is a progressive metabolic myopathy. Disease progression is characterized, among other features, by progressive dysfunction of the voice apparatus. The aim of this study was to employ electroglottographic, acoustic and nasalance measurement methods on patients with late-onset Pompe disease in order to provide detailed information on the effect of the disease on voice quality. Voice quality is the key factor for estimating the effectiveness of ERT in late-onset Pompe disease...
2016: Orphanet Journal of Rare Diseases
Edyta Szymańska, Dariusz Rokicki, Urszula Wątrobinska, Elżbieta Ciara, Paulina Halat, Rafał Płoski, Anna Tylki-Szymańka
BACKGROUND: Glycogen synthase deficiency (glycogen storage disease 0 - GSD 0) caused by mutations in the GYS2 gene is characterized by a lack of glycogen synthesis in the liver. It is a rare condition of disturbed glycogen homeostasis in the liver with less than 30 cases reported in the literature so far. CASE REPORT: We report a 9 year old boy diagnosed with GSD 0 due to the newly identified, highly pathogenic homozygous mutation: NM_021957.3:p.Phe574Leu/c.1720T > C in ex...
September 2015: Molecular Genetics and Metabolism Reports
Adam Golda, Agnieszka Jurecka, Karolina Gajda, Anna Tylki-Szymańska, Anna Lalik
BACKGROUND: Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal disorder caused by a deficient activity of N-acetylgalactosamine-4-sulfatase (ARSB). Pulmonary hypertension (PH) occurs in MPS VI patients and is a marker of bad prognosis. Malfunction of endothelium, which regulates vascular tonus and stimulates angiogenesis, can contribute to the occurrence of PH in MPS VI. AIM: The aim of the study was to establish a human MPS VI cellular model of pulmonary artery endothelial cells (HPAECs) and evaluate how it affects factors that may trigger PH such as proliferation, apoptosis, expression of endothelial nitric oxide synthase (eNOS), natriuretic peptide type C (NPPC), and vascular endothelial growth factor A (VEGFA)...
June 2015: Molecular Genetics and Metabolism Reports
Marcin Woś, Joanna Szczepanowska, Sławomir Pikuła, Anna Tylki-Szymańska, Krzysztof Zabłocki, Joanna Bandorowicz-Pikuła
Mutations in the NPC1 or NPC2 genes lead to Niemann-Pick type C (NPC) disease, a rare lysosomal storage disorder characterized by progressive neurodegeneration. These mutations result in cholesterol and glycosphingolipid accumulation in the late endosomal/lysosomal compartment. Complications in the storage of cholesterol in NPC1 mutant cells are associated with other anomalies, such as altered distribution of intracellular organelles and properties of the plasma membrane. The pathomechanism of NPC disease is largely unknown...
March 1, 2016: Archives of Biochemistry and Biophysics
Katarzyna Hetmańczyk, Małgorzata Bednarska-Makaruk, Karolina Kierus, Sylwia Murawska-Izdebska, Dorota Piekutowska-Abramczuk, Bożena Pilch, Anna Tylki-Szymańska, Agnieszka Ługowska
OBJECTIVES: Mucopolysaccharidoses (MPSs) are a group of rare, inherited metabolic disorders which result from the lack of one of the lysosomal enzymes responsible for the degradation of glycosaminoglycans. Early recognition of MPS is important as it enables prompt implementation of enzyme replacement therapy (ERT). Dipeptidyl peptidase-IV (DPP-IV) is a ubiquitous ectopeptidase which activity has been associated with the cell surface protein CD26. Our aims were to investigate plasma DPP-IV activity in untreated patients with MPS type II in comparison to control individuals and to evaluate changes of DPP-IV during ERT in MPS I or II patients...
April 2016: Clinical Biochemistry
Agnieszka Różdżyńska-Świątkowska, Agnieszka Jurecka, Zbigniew Żuber, Anna Tylki-Szymańska
BACKGROUND: The objective of the study was to compare mean values for birth body length and weight between patients with mucopolysaccharidosis (MPS) and the general population. METHODS: A retrospective analysis of birth anthropometric data was performed for patients (n = 103) with MPS I, II, and VI. Two-tailed t tests were used to compare mean values for body length and weight at birth between patients with MPS and the general population. RESULTS: Mean values for birth body length and weight for all studied groups were greater than in the general population...
June 2016: Pediatrics and Neonatology
Agnieszka Różdżyńska-Świątkowska, Elżbieta Jurkiewicz, Anna Tylki-Szymańska
During progressive myopathy, the space of atrophic muscle tissue is gradually filled by fatty tissue. The proportion of these two tissue types relative to body mass provides an indication of the extent of muscle tissue destruction, i.e., the progression and severity of the disease.In this study we use Pompe disease as an example to report the new possibility of using bioimpedance analysis (BIA) to assess the relative proportion of fatty and muscle tissue in diseases associated with muscle atrophy, thus enabling the assessment of disease progression and the effectiveness of treatment...
2016: JIMD Reports
Kathryn L Berrier, Zoheb B Kazi, Sean N Prater, Deeksha S Bali, Jennifer Goldstein, Mihaela C Stefanescu, Catherine W Rehder, Eleanor G Botha, Carolyn Ellaway, Kaustuv Bhattacharya, Anna Tylki-Szymanska, Nesrin Karabul, Amy S Rosenberg, Priya S Kishnani
No abstract text is available yet for this article.
July 2015: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Margarida Coelho, Paula Valente-Silva, Anna Tylki-Szymanska, Tiago Henriques, Cristina Barosa, Filipa Carvalho, John G Jones
PURPOSE: Enrichment of glucose position 5 (H5) from deuterated water ((2)H2O) is widely used for quantifying gluconeogenesis. Exchanges of hexose and triose phosphates mediated by transaldolase have been postulated to enrich H5 independently of gluconeogenesis, but to date this mechanism has not been proven. We determined the enrichment of glucose-6-phosphate (G6P), the immediate precursor of endogenously produced glucose, from (2)H2O in erythrocyte hemolysate preparations. Here, transaldolase exchange is active but gluconeogenesis is absent...
April 2016: Magnetic Resonance in Medicine: Official Journal of the Society of Magnetic Resonance in Medicine
Frits A Wijburg, Bernard Bénichou, Daniel G Bichet, Lorne A Clarke, Gabriela Dostalova, Alejandro Fainboim, Andreas Fellgiebel, Cassiano Forcelini, Kristina An Haack, Robert J Hopkin, Michael Mauer, Behzad Najafian, C Ronald Scott, Suma P Shankar, Beth L Thurberg, Camilla Tøndel, Anna Tylki-Szymańska, Uma Ramaswami
TRIAL DESIGN: This analysis characterizes the degree of early organ involvement in a cohort of oligo-symptomatic untreated young patients with Fabry disease enrolled in an ongoing randomized, open-label, parallel-group, phase 3B clinical trial. METHODS: Males aged 5-18 years with complete α-galactosidase A deficiency, without symptoms of major organ damage, were enrolled in a phase 3B trial evaluating two doses of agalsidase beta. Baseline disease characteristics of 31 eligible patients (median age 12 years) were studied, including cellular globotriaosylceramide (GL-3) accumulation in skin (n = 31) and kidney biopsy (n = 6; median age 15 years; range 13-17 years), renal function, and glycolipid levels (plasma, urine)...
2015: PloS One
Zbigniew Żuber, Agnieszka Jurecka, Agnieszka Różdżyńska-Świątkowska, Agata Migas-Majoch, Agnieszka Lembas, Beata Kieć-Wilk, Anna Tylki-Szymańska
OBJECTIVES: The primary aim of this study was to assess the ultrasonographic features of hip joints in patients with mucopolysaccharidosis (MPS) type I and II in comparison with healthy population. The secondary aims were to correlate these features with clinical measures and to evaluate the utility of ultrasound in the diagnosis of MPS disease. MATERIALS AND METHODS: Sixteen MPS I (n = 3) and II (n = 13) patients were enrolled in the present study and underwent clinical and radiological evaluation, and bilateral high-resolution ultrasonography (US) of hip joints...
2015: PloS One
Marieke Biegstraaten, Reynir Arngrímsson, Frederic Barbey, Lut Boks, Franco Cecchi, Patrick B Deegan, Ulla Feldt-Rasmussen, Tarekegn Geberhiwot, Dominique P Germain, Chris Hendriksz, Derralynn A Hughes, Ilkka Kantola, Nesrin Karabul, Christine Lavery, Gabor E Linthorst, Atul Mehta, Erica van de Mheen, João P Oliveira, Rossella Parini, Uma Ramaswami, Michael Rudnicki, Andreas Serra, Claudia Sommer, Gere Sunder-Plassmann, Einar Svarstad, Annelies Sweeb, Wim Terryn, Anna Tylki-Szymanska, Camilla Tøndel, Bojan Vujkovac, Frank Weidemann, Frits A Wijburg, Peter Woolfson, Carla E M Hollak
INTRODUCTION: Fabry disease (FD) is a lysosomal storage disorder resulting in progressive nervous system, kidney and heart disease. Enzyme replacement therapy (ERT) may halt or attenuate disease progression. Since administration is burdensome and expensive, appropriate use is mandatory. We aimed to define European consensus recommendations for the initiation and cessation of ERT in patients with FD. METHODS: A Delphi procedure was conducted with an online survey (n = 28) and a meeting (n = 15)...
2015: Orphanet Journal of Rare Diseases
Kathryn L Berrier, Zoheb B Kazi, Sean N Prater, Deeksha S Bali, Jennifer Goldstein, Mihaela C Stefanescu, Catherine W Rehder, Eleanor G Botha, Carolyn Ellaway, Kaustuv Bhattacharya, Anna Tylki-Szymanska, Nesrin Karabul, Amy S Rosenberg, Priya S Kishnani
PURPOSE: Enzyme replacement therapy (ERT) with recombinant human acid α-glucosidase (rhGAA) prolongs survival in infantile Pompe disease (IPD). However, the majority of cross-reactive immunologic material (CRIM)-negative (CN) patients have immune responses with significant clinical decline despite continued ERT. We aimed to characterize immune responses in CN patients with IPD receiving ERT monotherapy. METHODS: A chart review identified 20 CN patients with IPD treated with ERT monotherapy for ≥6 months...
November 2015: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Zbigniew Żuber, Agnieszka Jurecka, Elżbieta Jurkiewicz, Beata Kieć-Wilk, Anna Tylki-Szymańska
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked, recessive, lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase (EC The purpose of this report is to describe cervical spine magnetic resonance (MRI) findings in MPS II patients and to correlate them with clinical phenotype. Seven cervical spine MRI examinations from Polish MPS II patients (mean age 11.4 years, median age 8 years, range 5-30) were evaluated. Six patients were classified as neurological (85...
2015: Pediatric Neurosurgery
Anna Tylki-Szymańska, Rocio Acuna-Hidalgo, Małgorzata Krajewska-Walasek, Agnieszka Lecka-Ambroziak, Marloes Steehouwer, Christian Gilissen, Han G Brunner, Agnieszka Jurecka, Agnieszka Różdżyńska-Świątkowska, Alexander Hoischen, Krystyna H Chrzanowska
BACKGROUND: Resistance to thyroid hormone is characterised by a lack of response of peripheral tissues to the active form of thyroid hormone (triiodothyronine, T3). In about 85% of cases, a mutation in THRB, the gene coding for thyroid receptor β (TRβ), is the cause of this disorder. Recently, individual reports described the first patients with thyroid hormone receptor α gene (THRA) defects. METHODS: We used longitudinal clinical assessments over a period of 18 years at one hospital setting combined with biochemical and molecular studies to characterise a novel thyroid hormone resistance syndrome in a cohort of six patients from five families...
May 2015: Journal of Medical Genetics
Agnieszka Jurecka, Agnieszka Ługowska, Adam Golda, Barbara Czartoryska, Anna Tylki-Szymańska
The aim of this study was to determine the prevalence rates of mucopolysaccharidoses in Poland and to compare them with other European countries. A retrospective epidemiological survey covering the period between 1970 and 2010 was implemented. Multiple ascertainment sources were used to identify affected patients. The overall prevalence of mucopolysaccharidoses in the Polish population was 1.81 per 100,000. Five different mucopolysaccharidoses were diagnosed in a total of 392 individuals. MPS III was the most frequent mucopolysaccharidosis, with a birth prevalence of 0...
May 2015: Journal of Applied Genetics
Agnieszka Różdżyńska-Świątkowska, Agnieszka Jurecka, Joachim Cieślik, Anna Tylki-Szymańska
BACKGROUND: Mucopolysaccharidosis (MPS) diseases lead to a profound disruption in normal mechanisms of growth and development. This study was undertaken to determine the general growth of children with MPS I and II. METHODS: The anthropometric data of patients with MPS I and II (n=76) were retrospectively analyzed. The growth patterns of these patients were analyzed and then plotted onto Polish reference charts. Longitudinal analyses were performed to estimate age-related changes...
August 2015: World Journal of Pediatrics: WJP
Anna Tylki-Szymańska
Hunter syndrome is caused by deficiency of the lysososmal enzyme iduronate-2-sulphatase that cleaves O-linked sulphate moieties from dermatan sulphate and heparan sulphate and leads to accumulation of GAGs. The disease is a X-linked condition affecting males and rarely females, clinically divided into severe (2/3) and attenuated types. Children with severe form, diagnosed at 12-36 months, have coarse facial feature, short stature, joint stiffness, short neck, broad chest, large head circumference, watery diarrhea, skeletal changes, progressive and profound mental retardation, retinal degeneration' hearing loss, cardiomyopathy, valvular involvement, with progressive thickening and stiffening of the valve leaflets leading to mitral and aortic regurgitation and stenosis ...
September 2014: Pediatric Endocrinology Reviews: PER
Teresa J Stradomska, Katarzyna Drabko, Elżbieta Moszczyńska, Anna Tylki-Szymańska
X-linked adrenoleukodystrophy is a rare, neurodegenerative peroxisomal disorder connected with mutation in the ABCD1 gene, causing impairment of the peroxisomal β-oxidation process and in consequence, accumulation of very long-chain fatty acids (VLCFA) in blood and tissues. In this study we present serum very long-chain fatty acids levels during clinical course in an X-linked adrenoleukodystrophy patient after haematopoietic stem cell transplantation (HSCT) and on Lorenzo's Oil in a 11 years' period. The patient was diagnosed at the age of 8 months by family screening...
2014: Folia Neuropathologica
Agnieszka Jurecka, Marie Zikanova, Stanislav Kmoch, Anna Tylki-Szymańska
Adenylosuccinate lyase ADSL) deficiency is a defect of purine metabolism affecting purinosome assembly and reducing metabolite fluxes through purine de novo synthesis and purine nucleotide recycling pathways. Biochemically this defect manifests by the presence in the biologic fluids of two dephosphorylated substrates of ADSL enzyme: succinylaminoimidazole carboxamide riboside (SAICAr) and succinyladenosine (S-Ado). More than 80 individuals with ADSL deficiency have been identified, but incidence of the disease remains unknown...
March 2015: Journal of Inherited Metabolic Disease
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