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https://www.readbyqxmd.com/read/29100954/newborn-presentation-of-niemann-pick-disease-type-c-difficulties-and-limitations-of-diagnostic-methods
#1
Patryk Lipiński, Irena Jankowska, Agnieszka Ługowska, Małgorzata Musielak, Maciej Pronicki, Anna Tylki-Szymańska
No abstract text is available yet for this article.
October 12, 2017: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/29079200/female-fabry-disease-patients-and-x-chromosome-inactivation
#2
Patrycja Juchniewicz, Anna Kloska, Anna Tylki-Szymańska, Joanna Jakóbkiewicz-Banecka, Grzegorz Węgrzyn, Marta Moskot, Magdalena Gabig-Cimińska, Ewa Piotrowska
Fabry disease is an X-linked inherited lysosomal storage disorder caused by mutations in the gene encoding α-galactosidase A (GLA). Once it was thought to affect only hemizygous males. Over the last fifteen years, research has shown that most females carrying mutated allele also develop symptoms, demonstrating a wide range of disease severity, from a virtually asymptomatic to more classical profile, with cardiac, renal, and cerebrovascular manifestations. This variable expression in females is thought to be influenced by the process of X-chromosome inactivation (XCI)...
October 24, 2017: Gene
https://www.readbyqxmd.com/read/29047053/mild-zellweger-syndrome-due-to-a-novel-pex6-mutation-correlation-between-clinical-phenotype-and-in-silico-prediction-of-variant-pathogenicity
#3
Małgorzata Rydzanicz, Teresa Joanna Stradomska, Elżbieta Jurkiewicz, Ewa Jamroz, Piotr Gasperowicz, Grażyna Kostrzewa, Rafał Płoski, Anna Tylki-Szymańska
Zellweger syndrome (ZS) is a consequence of a peroxisome biogenesis disorder (PBD) caused by the presence of a pathogenic mutation in one of the 13 genes from the PEX family. ZS is a severe multisystem condition characterized by neonatal appearance of symptoms and a shorter life. Here, we report a case of ZS with a mild phenotype, due to a novel PEX6 gene mutation. The patient presented subtle craniofacial dysmorphic features and slightly slower psychomotor development. At the age of 2 years, he was diagnosed with adrenal insufficiency, hypoacusis, and general deterioration...
October 18, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/28974237/clinical-outcomes-in-idursulfase-treated-patients-with-mucopolysaccharidosis-type-ii-3-year-data-from-the-hunter-outcome-survey-hos
#4
Joseph Muenzer, Roberto Giugliani, Maurizio Scarpa, Anna Tylki-Szymańska, Virginie Jego, Michael Beck
BACKGROUND: Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare, X-linked disorder caused by deficient activity of the enzyme iduronate-2-sulfatase (I2S). Treatment is available in the form of enzyme replacement therapy (ERT) with recombinant I2S. Clinical outcomes following ≥3 years of ERT with idursulfase were investigated in a broad population of patients with MPS II enrolled in the Hunter Outcome Survey (HOS). METHODS: As of January 2016, 639 patients (excluding female patients, individuals who had received a bone marrow transplant and those enrolled in the phase 1/2 [TKT018] or phase 2/3 [TKT024] clinical trial) followed prospectively in the registry had received idursulfase for ≥6 months...
October 3, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28911146/anemia-in-patients-with-resistance-to-thyroid-hormone-%C3%AE-a-role-for-thyroid-hormone-receptor-%C3%AE-in-human-erythropoiesis
#5
COMPARATIVE STUDY
Anja L M van Gucht, Marcel E Meima, Carla Moran, Maura Agostini, Anna Tylki-Szymanska, Malgorzata-Walasek Krajewska, Krystyna Chrzanowska, Alexandra Efthymiadou, Dionisios Chrysis, Korcan Demir, W Edward Visser, Theo J Visser, Krishna Chatterjee, Thamar B van Dijk, Robin P Peeters
Context: Patients with resistance to thyroid hormone (TH) α (RTHα) are characterized by growth retardation, macrocephaly, constipation, and abnormal thyroid function tests. In addition, almost all RTHα patients have mild anemia, the pathogenesis of which is unknown. Animal studies suggest an important role for TH and TH receptor (TR)α in erythropoiesis. Objective: To investigate whether a defect in TRα affects the maturation of red blood cells in RTHα patients...
September 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28464912/ten-years-of-the-hunter-outcome-survey-hos-insights-achievements-and-lessons-learned-from-a-global-patient-registry
#6
REVIEW
Joseph Muenzer, Simon A Jones, Anna Tylki-Szymańska, Paul Harmatz, Nancy J Mendelsohn, Nathalie Guffon, Roberto Giugliani, Barbara K Burton, Maurizio Scarpa, Michael Beck, Yvonne Jangelind, Elizabeth Hernberg-Stahl, Maria Paabøl Larsen, Tom Pulles, David A H Whiteman
Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is a rare lysosomal storage disease with progressive multisystem manifestations caused by deficient activity of the enzyme iduronate-2-sulfatase. Disease-specific treatment is available in the form of enzyme replacement therapy with intravenous idursulfase (Elaprase®, Shire). Since 2005, the Hunter Outcome Survey (HOS) has collected real-world, long-term data on the safety and effectiveness of this therapy, as well as the natural history of MPS II...
May 2, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28274788/management-goals-for-type-1-gaucher-disease-an-expert-consensus-document-from-the-european-working-group-on-gaucher-disease
#7
M Biegstraaten, T M Cox, N Belmatoug, M G Berger, T Collin-Histed, S Vom Dahl, M Di Rocco, C Fraga, F Giona, P Giraldo, M Hasanhodzic, D A Hughes, P O Iversen, A I Kiewiet, E Lukina, M Machaczka, T Marinakis, E Mengel, G M Pastores, U Plöckinger, H Rosenbaum, C Serratrice, A Symeonidis, J Szer, J Timmerman, A Tylki-Szymańska, M Weisz Hubshman, D I Zafeiriou, A Zimran, C E M Hollak
Gaucher Disease type 1 (GD1) is a lysosomal disorder that affects many systems. Therapy improves the principal manifestations of the condition and, as a consequence, many patients show a modified phenotype which reflects manifestations of their disease that are refractory to treatment. More generally, it is increasingly recognised that information as to how a patient feels and functions [obtained by patient- reported outcome measurements (PROMs)] is critical to any comprehensive evaluation of treatment. A new set of management goals for GD1 in which both trends are reflected is needed...
October 24, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28040394/long-term-hematological-visceral-and-growth-outcomes-in-children-with-gaucher-disease-type-3-treated-with-imiglucerase-in-the-international-collaborative-gaucher-group-gaucher-registry
#8
MULTICENTER STUDY
Amal El-Beshlawy, Anna Tylki-Szymanska, Ashok Vellodi, Nadia Belmatoug, Gregory A Grabowski, Edwin H Kolodny, Julie L Batista, Gerald F Cox, Pramod K Mistry
In Gaucher disease (GD), deficiency of lysosomal acid β-glucosidase results in a broad phenotypic spectrum that is classified into three types based on the absence (type 1 [GD1]) or presence and severity of primary central nervous system involvement (type 2 [GD2], the fulminant neuronopathic form, and type 3 [GD3], the milder chronic neuronopathic form). Enzyme replacement therapy (ERT) with imiglucerase ameliorates and prevents hematological and visceral manifestations in GD1, but data in GD3 are limited to small, single-center series...
January 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27417441/analysis-of-voice-quality-in-patients-with-late-onset-pompe-disease
#9
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...
July 15, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/26937415/pediatric-patient-with-hyperketotic-hypoglycemia-diagnosed-with-glycogen-synthase-deficiency-due-to-the-novel-homozygous-mutation-in-gys2
#10
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
https://www.readbyqxmd.com/read/26937388/human-pulmonary-artery-endothelial-cells-in-the-model-of-mucopolysaccharidosis-vi-present-a-prohypertensive-phenotype
#11
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
https://www.readbyqxmd.com/read/26869201/mitochondrial-dysfunction-in-fibroblasts-derived-from-patients-with-niemann-pick-type-c-disease
#12
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
https://www.readbyqxmd.com/read/26592960/monitoring-of-dipeptidyl-peptidase-iv-dpp-iv-activity-in-patients-with-mucopolysaccharidoses-types-i-and-ii-on-enzyme-replacement-therapy-results-of-a-pilot-study
#13
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
https://www.readbyqxmd.com/read/26522251/can-macrosomia-or-large-for-gestational-age-be-predictive-of-mucopolysaccharidosis-type-i-ii-and-vi
#14
COMPARATIVE STUDY
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...
2016: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/26253708/bioimpedance-analysis-as-a-method-to-evaluate-the-proportion-of-fatty-and-muscle-tissues-in-progressive-myopathy-in-pompe-disease
#15
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
https://www.readbyqxmd.com/read/26133565/corrigendum-crim-negative-infantile-pompe-disease-characterization-of-immune-responses-in-patients-treated-with-ert-monotherapy
#16
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
https://www.readbyqxmd.com/read/25995077/demonstration-of-glucose-6-phosphate-hydrogen-5-enrichment-from-deuterated-water-by-transaldolase-mediated-exchange-alone
#17
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
https://www.readbyqxmd.com/read/25955246/characterization-of-early-disease-status-in-treatment-naive-male-paediatric-patients-with-fabry-disease-enrolled-in-a-randomized-clinical-trial
#18
RANDOMIZED CONTROLLED TRIAL
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
https://www.readbyqxmd.com/read/25922936/ultrasonographic-features-of-hip-joints-in-mucopolysaccharidoses-type-i-and-ii
#19
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
https://www.readbyqxmd.com/read/25885911/recommendations-for-initiation-and-cessation-of-enzyme-replacement-therapy-in-patients-with-fabry-disease-the-european-fabry-working-group-consensus-document
#20
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)...
March 27, 2015: Orphanet Journal of Rare Diseases
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