keyword
MENU ▼
Read by QxMD icon Read
search

Tylki

keyword
https://www.readbyqxmd.com/read/29785937/the-effect-of-enzyme-replacement-therapy-on-clinical-outcomes-in-paediatric-patients-with-fabry-disease-a-systematic-literature-review-by-a-european-panel-of-experts
#1
REVIEW
Marco Spada, Ralf Baron, Perry M Elliott, Bruno Falissard, Max J Hilz, Lorenzo Monserrat, Camilla Tøndel, Anna Tylki-Szymańska, Christoph Wanner, Dominique P Germain
BACKGROUND: Fabry disease is caused by a deficiency of the lysosomal enzyme α-galactosidase, resulting in progressive accumulation of globotriaosylceramide (GL-3). The disease can manifest early during childhood and adolescence. Enzyme replacement therapy (ERT) with recombinant human α-galactosidase is the first specific treatment for Fabry disease and has been available in Europe since 2001. This paper presents the findings of a systematic literature review of clinical outcomes with ERT in paediatric patients with Fabry disease...
April 26, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29725868/comprehensive-long-term-efficacy-and-safety-of-recombinant-human-alpha-mannosidase-velmanase-alfa-treatment-in-patients-with-alpha-mannosidosis
#2
Allan M Lund, Line Borgwardt, Federica Cattaneo, Diego Ardigò, Silvia Geraci, Mercedes Gil-Campos, Linda De Meirleir, Cécile Laroche, Philippe Dolhem, Duncan Cole, Anna Tylki-Szymanska, Monica Lopez-Rodriguez, Encarna Guillén-Navarro, Christine I Dali, Bénédicte Héron, Jens Fogh, Nicole Muschol, Dawn Phillips, J M Hannerieke Van den Hout, Simon A Jones, Yasmina Amraoui, Paul Harmatz, Nathalie Guffon
INTRODUCTION: Long-term outcome data provide important insights into the clinical utility of enzyme replacement therapies. Such data are presented for velmanase alfa in the treatment of alpha-mannosidosis (AM). METHODS: Patient data (n = 33; 14 adults, 19 paediatric) from the clinical development programme for velmanase alfa were integrated in this prospectively-designed analysis of long-term efficacy and safety. Patients who participated in the phase I/II or phase III trials and were continuing to receive treatment after completion of the trials were invited to participate in a comprehensive evaluation visit to assess long-term outcomes...
May 3, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29721915/clinical-biochemical-and-molecular-overview-of-transaldolase-deficiency-and-evaluation-of-the-endocrine-function-update-of-34-patients
#3
M Williams, V Valayannopoulos, R Altassan, W K Chung, A C Heijboer, W T Keng, R Lapatto, P McClean, M F Mulder, A Tylki-Szymańska, M J E Walenkamp, M Alfadhel, H Alakeel, G S Salomons, W Eyaid, M M C Wamelink
BACKGROUND: Transaldolase deficiency (TALDO-D) is a rare autosomal recessive inborn error of the pentose phosphate pathway. Since its first description in 2001, several case reports have been published, but there has been no comprehensive overview of phenotype, genotype, and phenotype-genotype correlation. METHODS: We performed a retrospective questionnaire and literature study of clinical, biochemical, and molecular data of 34 patients from 25 families with proven TALDO-D...
May 2, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29705274/early-onset-lysosomal-acid-lipase-deficiency-presenting-as-secondary-hemophagocytic-lymphohistiocytosis-two-infants-treated-with-sebelipase-alfa
#4
Ermelinda Santos Silva, Maja Klaudel-Dreszler, Agnieska Bakuła, Teresa Oliva, Tereza Sousa, Paula Cristina Fernandes, Anna Tylki-Szymańska, Elena Kamenets, Esmeralda Martins, Piotr Socha
Two unrelated infants were diagnosed with and initially treated for hemophagocytic lymphohistiocytosis (HLH), but progressed to cholestasis and liver failure. Early onset lysosomal acid lipase deficiency (EO-LAL-D) was suspected due to lymphocytes with cytoplasmic vacuolation and/or adrenal calcifications and confirmed by enzymatic and genetic analysis. Enzyme replacement therapy with sebelipase alfa was implemented, but both children died, despite initial improvement. Since this inborn error of metabolism progresses rapidly in infants, early diagnosis is crucial, and appropriate treatment should be started as soon as possible...
April 25, 2018: Clinics and Research in Hepatology and Gastroenterology
https://www.readbyqxmd.com/read/29530534/plasma-chitotriosidase-activity-versus-plasma-glucosylsphingosine-in-wide-spectrum-of-gaucher-disease-phenotypes-a-statistical-insight
#5
Anna Tylki-Szymańska, Paulina Szymańska-Rożek, Piotr Hasiński, Agnieszka Ługowska
Deficiency of beta-glucocerebrosidase (GBA) leads to Gaucher disease (GD), an inherited disorder characterised by storage of glucosylceramide (GlcCer) in lysosomes of tissue macrophages. Macrophages activated by accumulated GlcCer secrete chitotriosidase. Plasma chitotriosidase activity is significantly elevated in patients with active GD and has been suggested to indicate total body Gaucher cell load. There are two biomarkers used to assess the severity of GD - chitotriosidase has been measured for over 20 years, and deacylated GlcCer, known as glucosylsphingosine (GlcSph) is thought to be even more adequate, as it is almost a direct storage substrate...
April 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29275451/voice-alterations-in-patients-with-morquio-a-syndrome
#6
Krzysztof Szklanny, Ryszard Gubrynowicz, Anna Tylki-Szymańska
Morquio A syndrome, or mucopolysaccharidosis (MPS IV A), is an inherited lysosomal storage disorder which belongs to the group of mucopolysaccharidoses (MPSs). It is caused by N-acetylgalactosamine-6-sulfatase (GALNS) activity deficiency, which results in impaired degradation of glycosaminoglycans (GAGs), including keratan sulfate (KS) and chondroitin-6-sulfate (CS). These compounds infiltrate and disrupt the architecture of the extracellular matrix, compromising the integrity of the connective tissue. Patients with Morquio A have also been noted for exhibiting abnormalities of the larynx and vocal tract...
February 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29100954/newborn-presentation-of-niemann-pick-disease-type-c-difficulties-and-limitations-of-diagnostic-methods
#7
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
#8
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)...
January 30, 2018: 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
#9
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...
November 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
#10
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
#11
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
#12
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
#13
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...
February 2018: 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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
keyword
keyword
81634
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"