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mucopolysaccharidosis

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https://www.readbyqxmd.com/read/27916847/aortic-root-dilatation-in-mucopolysaccharidosis-i-vii
#1
Meena Bolourchi, Pierangelo Renella, Raymond Y Wang
The prevalence of aortic root dilatation (ARD) in mucopolysaccharidosis (MPS) is not well documented. We investigated aortic root measurements in 34 MPS patients at the Children's Hospital of Orange County (CHOC). The diagnosis, treatment status, age, gender, height, weight and aortic root parameters (aortic valve annulus (AVA), sinuses of Valsalva (SoV), and sinotubular junction (STJ)) were extracted by retrospective chart review and echocardiographic measurements. Descriptive statistics, ANOVA, and paired post-hoc t-tests were used to summarize the aortic dimensions...
November 29, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27913904/association-between-brain-structural-anomalies-electroencephalogram-and-history-of-seizures-in-mucopolysaccharidosis-type-ii-hunter-syndrome
#2
Ramón Ernesto Jiménez-Arredondo, Aniel Jessica Leticia Brambila-Tapia, Francisco Miguel Mercado-Silva, Martha Ortiz-Aranda, Verónica Benites-Godinez, Graciela Olmos-García-de-Alba, Luis Eduardo Figuera
Mucopolysaccharidosis type II or Hunter syndrome (MPS II) is a genetic disease that can course with intellectual impairment and central nervous system (CNS) alterations. To date, no report has documented electroencephalogram (EEG) measures associated with CNS alterations, detected by imaging studies, and the history of seizures in patients with MPS II. Therefore, we decided to search this association. We included 9 patients with MPS II and performed imaging studies of the brain to detect the presence of cortico-subcortical atrophy, enlarged subarachnoid space and supratentorial ventricular size...
December 2, 2016: Neurological Sciences
https://www.readbyqxmd.com/read/27911282/role-of-rehabilitation-in-hurler-s-syndrome
#3
Sudhir Ramkishore Mishra, Mona Shastri, Jaishree Ramesh
Hurler syndrome is an inherited autosomal recessive disorder of lysosomal accumulation of un-degraded glucosaminoglycan secondary to deficiency of a-L-Iduronidase enzyme. It is most severe form of Mucopolysaccharidosis with incidence of 1:100 000. It has multisystemic involvement leading to multiple deformity, disability and death within 10th years of life. A 2 year old boy presented with umbilical hernia, gross developmental delay and a progressive spinal deformity. On detailed clinical, radiological and laboratory investigation he was diagnosed as Hurler's syndrome...
November 25, 2016: Journal of Back and Musculoskeletal Rehabilitation
https://www.readbyqxmd.com/read/27910891/elevated-cerebral-spinal-fluid-biomarkers-in-children-with-mucopolysaccharidosis-i-h
#4
Gerald V Raymond, Marzia Pasquali, Lynda E Polgreen, Patricia I Dickson, Weston P Miller, Paul J Orchard, Troy C Lund
Mucopolysaccharidosis (MPS) type-IH is a lysosomal storage disease that results from mutations in the IDUA gene causing the accumulation of glycosaminoglycans (GAGs). Historically, children with the severe phenotype, MPS-IH (Hurler syndrome) develop progressive neurodegeneration with death in the first decade due to cardio-pulmonary complications. New data suggest that inflammation may play a role in MPS pathophysiology. To date there is almost no information on the pathophysiologic changes within the cerebral spinal fluid (CSF) of these patients...
December 2, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27883178/genotype-phenotype-correlation-in-44-czech-slovak-croatian-and-serbian-patients-with-mucopolysaccharidosis-type-ii
#5
Lenka Dvorakova, Hana Vlaskova, Adrijan Sarajlija, Danijela Petkovic Ramadza, Helena Poupetova, Eva Hruba, Anna Hlavata, Vladimir Bzduch, Karolina Peskova, Gabriela Storkanova, Bozica Kecman, Maja Djordjevic, Ivo Baric, Ksenija Fumic, Ingeborg Barisic, Martin Reboun, Jan Kulhanek, Jiri Zeman, Martin Magner
Mucopolysaccharidosis type II (Hunter syndrome, MPS II, OMIM 309900) is an X-linked lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase (IDS). We analysed clinical and laboratory data from 44 Slavic patients with this disease. In total, 21 Czech, 7 Slovak, 9 Croatian and 7 Serbian patients (43 M/1 F) were included in the study (median age 11.0 years, range 1.2-43 years). Birth prevalence ranged from 1:69,223 (Serbia) to 1:192,626 (Czech Rep.). In the majority of patients (71%), the disease manifested in infancy...
November 24, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27881461/lysosomal-dysfunction-disrupts-presynaptic-maintenance-and-restoration-of-presynaptic-function-prevents-neurodegeneration-in-lysosomal-storage-diseases
#6
Irene Sambri, Rosa D'Alessio, Yulia Ezhova, Teresa Giuliano, Nicolina Cristina Sorrentino, Vincenzo Cacace, Maria De Risi, Mauro Cataldi, Lucio Annunziato, Elvira De Leonibus, Alessandro Fraldi
Lysosomal storage disorders (LSDs) are inherited diseases characterized by lysosomal dysfunction and often showing a neurodegenerative course. There is no cure to treat the central nervous system in LSDs. Moreover, the mechanisms driving neuronal degeneration in these pathological conditions remain largely unknown. By studying mouse models of LSDs, we found that neurodegeneration develops progressively with profound alterations in presynaptic structure and function. In these models, impaired lysosomal activity causes massive perikaryal accumulation of insoluble α-synuclein and increased proteasomal degradation of cysteine string protein α (CSPα)...
November 25, 2016: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/27873002/multimodal-detection-of-gm2-and-gm3-lipid-species-in-the-brain-of-mucopolysaccharidosis-type-ii-mouse-by-serial-imaging-mass-spectrometry-and-immunohistochemistry
#7
Martin Dufresne, Daniel Guneysu, Nathan Heath Patterson, Mieczyslaw Martin Marcinkiewicz, Anthony Regina, Michel Demeule, Pierre Chaurand
Mucopolysaccharidosis type II (Hunter's disease) mouse model (IdS-KO) was investigated by both imaging mass spectrometry (IMS) and immunohistochemistry (IHC) performed on the same tissue sections. For this purpose, IdS-KO mice brain sections were coated with sublimated 1,5-diaminonaphtalene and analyzed by high spatial resolution IMS (5 μm) and anti-GM3 IHC on the same tissue sections to characterize the ganglioside monosialated ganglioside (GM) deposits found in Hunter's disease. IMS analysis have found that two species of GM3 and GM2 that are only different due to the length of their fatty acid residue (stearic or arachidic residue) were overexpressed in the IdS-KO mice compared to a control mouse...
November 21, 2016: Analytical and Bioanalytical Chemistry
https://www.readbyqxmd.com/read/27865974/importance-of-the-combined-urinary-procedure-for-the-diagnosis-of-mucopolysaccharidoses
#8
Lucia Zampini, Lucia Padella, Rita Lucia Marchesiello, Lucia Santoro, Chiara Monachesi, Andrea Giovagnoni, Carlo Catassi, Orazio Gabrielli, Giovanni Valentino Coppa, Tiziana Galeazzi
BACKGROUND: Mucopolysaccharidoses are characterized by the accumulation of undegraded glycosaminoglycans in lysosomes in multiple organs and by their excretion in high amounts in urine. The aim of this study is to determine if this simple, reliable and reproducible method is useful for the diagnosis of Mucopolysaccharidoses. METHODS: The study included 2154 normal urine samples and 210 samples from 73 patients affected by different types of Mucopolysaccharidoses...
November 16, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/27857809/delayed-speech-hyperactivity-and-coarse-facies-does-sanfilippo-syndrome-come-to-mind
#9
Ayşe Kartal
Mucopolysaccharidosis Type IIIA (MPS IIIA) or Sanfilippo-A syndrome is caused by a deficiency in lysosomal a-heparan N-sulfatase. Its clinical manifestations include progressive dementia, hyperactivity, and aggressive behavior. Unlike other mucopolysaccharide disorders, the diagnosis of MPS IIIA is challenging in both adults and children. This diagnostic challenge has been associated with the high incidence of false negative results encountered on urinary screening tests. We herein describe Sanfilippo-A syndrome in a pediatric patient who presented with progressive hyperactivity, delayed language, and developmental delay and a negative urine screening test...
July 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27855521/elosulfase-alfa-bmn-110-for-the-treatment-of-mucopolysaccharidosis-iva-morquio-a-syndrome
#10
Christian J Hendriksz
Morquio A syndrome is a rare, autosomal recessive, lysosomal storage disorder caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase (GALNS). In 2014, the use of recombinant human GALNS, elosulfase alfa, was approved in the European Union, Canada, the United States, Australia, and Brazil for the treatment of Morquio A syndrome. Elosulfase alfa is administered intravenously once-weekly at a dose of 2.0 mg/kg. Areas covered: This is a review of the efficacy, safety and tolerability, pharmacokinetics and pharmacodynamics, and other outcomes of elosulfase alfa treatment of patients with Morquio A...
November 23, 2016: Expert Review of Clinical Pharmacology
https://www.readbyqxmd.com/read/27837218/detailed-molecular-characterization-of-a-novel-ids-exonic-mutation-associated-with-multiple-pseudoexon-activation
#11
L Grodecká, T Kováčová, M Kramárek, S Seneca, K Stouffs, C De Laet, F Majer, T Kršjaková, P Hujová, K Hrnčířová, P Souček, W Lissens, E Buratti, Tomas Freiberger
: Mutations affecting splicing underlie the development of many human genetic diseases, but rather rarely through mechanisms of pseudoexon activation. Here, we describe a novel c.1092T>A mutation in the iduronate-2-sulfatase (IDS) gene detected in a patient with significantly decreased IDS activity and a clinical diagnosis of mild mucopolysaccharidosis II form. The mutation created an exonic de novo acceptor splice site and resulted in a complex splicing pattern with multiple pseudoexon activation in the patient's fibroblasts...
November 12, 2016: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
https://www.readbyqxmd.com/read/27832551/anaesthetic-implications-of-the-changing-management-of-patients-with-mucopolysaccharidosis
#12
H A Hack, Rwm Walker, P Gardiner
The mucopolysaccharidoses are a group of inherited metabolic disorders that are renowned for presenting clinical problems, particularly related to cardiac, airway, and skeletal abnormalities, in children during anaesthesia. The changing clinical management of the mucopolysaccharidoses can be described in three phases. An initial phase of accumulation and dissemination of knowledge about the management of this rare disease with a growing recognition that untreated Hurler syndrome and more severe forms of other phenotypes such as Hunter syndrome and Maroteaux-Lamy syndrome were associated with severe complications under anaesthesia...
November 2016: Anaesthesia and Intensive Care
https://www.readbyqxmd.com/read/27832416/slow-continuous-enzyme-replacement-via-spinal-csf-in-dogs-with-the-paediatric-onset-neurodegenerative-disease-mps-iiia
#13
Barbara King, Neil R Marshall, Sofia Hassiotis, Paul J Trim, Justin Tucker, Kathryn Hattersley, Marten F Snel, Robert D Jolly, John J Hopwood, Kim M Hemsley
Intra-cerebrospinal fluid (CSF) injection of recombinant human lysosomal enzyme is a potential treatment strategy for several neurodegenerative lysosomal storage disorders including Sanfilippo syndrome (Mucopolysaccharidosis type IIIA; MPS IIIA). Here we have utilised the MPS IIIA Huntaway dog model to compare the effectiveness of the repeated intermittent bolus injection strategy being used in the trials with an alternate approach; slow, continual infusion of replacement enzyme (recombinant human sulphamidase; rhSGSH) into the spinal CSF using a SynchroMed II® pump attached to a spinal infusion cannula...
November 10, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27827379/kl%C3%A3-ver-bucy-syndrome-associated-with-a-recessive-variant-in-hgsnat-in-two-siblings-with-mucopolysaccharidosis-type-iiic-sanfilippo-c
#14
Hao Hu, Christoph Hübner, Zoltan Lukacs, Luciana Musante, Esther Gill, Thomas F Wienker, Hans-Hilger Ropers, Ellen Knierim, Markus Schuelke
Klüver-Bucy syndrome (KBS) comprises a set of neurobehavioral symptoms with psychic blindness, hypersexuality, disinhibition, hyperorality, and hypermetamorphosis that were originally observed after bilateral lobectomy in Rhesus monkeys. We investigated two siblings with KBS from a consanguineous family by whole-exome sequencing and autozygosity mapping. We detected a homozygous variant in the heparan-α-glucosaminidase-N-acetyltransferase gene (HGSNAT; c.518G>A, p.(G173D), NCBI ClinVar RCV000239404.1), which segregated with the phenotype...
November 9, 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27826022/functional-characterization-of-arylsulfatase-b-mutations-in-indian-patients-with-maroteaux-lamy-syndrome-mucopolysaccharidosis-type-vi
#15
Anusha Uttarilli, Divya Pasumarthi, Prajnya Ranganath, Ashwin B Dalal
MPS VI is an autosomal recessive disorder which occurs due to the deficiency of N-acetyl galactosamine-4-sulfatase (Arylsulfatase B - ARSB) involved in catabolism of dermatan sulfate resulting from disease-causing variations in the ARSB gene. Human Gene Mutation Database (HGMD) search revealed 200 different mutations in ARSB worldwide. In the present study we carried out molecular and functional analyses to characterize the mutations reported by us in Indian population. Mutation analysis of 19 MPS VI patients revealed presence of a total of 15 different mutations of which twelve were novel [p...
November 5, 2016: Gene
https://www.readbyqxmd.com/read/27825773/four-novel-mutations-in-the-n-acetylgalactosamine-6-sulfate-sulfatase-gene-among-egyptian-patients-with-morquio-a-disease
#16
Ekram M Fateen, Hanan Abd El Mawgoud, Noura R Eissa, Mona M Ibrahim, Mona S Aglan, Mona L Essawi
Morquio A disease (Mucopolysaccharidosis IVA, MPS IVA) is an autosomal recessive lysosomal storage disorder caused by deficient activity of the enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS) encoded by the GALNS gene. This deficiency leads to a decreased ability to degrade the glycosaminoglycans (GAGs) keratan sulfate and chondroitin 6-sulfate, thereby causing their accumulation within the lysosomes and consequently prominent skeletal and visceral abnormalities. Clinical evaluation and biochemical GALNS enzyme activity determination were carried out for the patients from four unrelated Egyptian families...
November 4, 2016: Gene
https://www.readbyqxmd.com/read/27814620/mucopolysaccharidosis-vi-pathophysiology-diagnosis-and-treatment
#17
Paul Harmatz, Renee Shediac
Mucopolysaccharidosis VI (MPS VI), or Maroteaux-Lamy syndrome, is an autosomal recessive lysosomal storage disorder caused by deficient activity of the enzyme arylsulfatase B (ASB). Progressive accumulation of glycosaminoglycans (GAGs) in organs and tissues leads to the development of multisystem clinical manifestations. The presentation of MPS VI is genotypically and phenotypically diverse, with a large number of potential disease-causing mutations and a phenotypic spectrum ranging from very slowly to very rapidly progressing disease...
January 1, 2017: Frontiers in Bioscience (Landmark Edition)
https://www.readbyqxmd.com/read/27797586/novel-mutations-including-a-large-deletion-in-the-arsb-gene-causing-mucopolysaccharidosis-type-vi
#18
Chupong Ittiwut, Sukanya Boonbuamas, Chalurmpon Srichomthong, Rungnapa Ittiwut, Kanya Suphapeetiporn, Vorasuk Shotelersuk
OBJECTIVE: Mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome), a rare autosomal recessive lysosomal storage disease, is caused by mutations in the N-acetylgalactosamine-4-sulfatase (arylsulfatase B, or ARSB) gene, resulting in a deficiency of ARSB activity. This study aimed to characterize the clinical and molecular features of four unrelated Thai patients with MPS VI. Two were products of consanguineous marriages. MATERIALS AND METHODS: The diagnosis was confirmed by biochemical and genetic tests...
October 31, 2016: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/27789401/generation-of-human-induced-pluripotent-stem-cell-ipsc-line-from-an-unaffected-female-carrier-of-mucopolysaccharidosis-type-ii-mps-ii-disorder
#19
Eszter Varga, Csilla Nemes, Eszter Kovács, István Bock, Norbert Varga, Anita Fehér, András Dinnyés, Julianna Kobolák
Peripheral blood was collected from a 39-year-old unaffected female carrier of an X-linked recessive mutation of Iduronate 2-sulfatase gene (NM_000202.7(IDS):c.85C>T) causing MPS II (OMIM 309900). Peripheral blood mononuclear cells (PBMCs) were reprogrammed by lentiviral delivery of a self-silencing hOKSM polycistronic vector. The pluripotency of iPSC line was confirmed by the expression of pluripotency-associated markers and in vitro spontaneous differentiation towards the 3 germ layers. The iPSC showed normal karyotype...
October 3, 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27789399/generation-of-mucopolysaccharidosis-type-ii-mps-ii-human-induced-pluripotent-stem-cell-ipsc-line-from-a-1-year-old-male-with-pathogenic-ids-mutation
#20
Eszter Varga, Csilla Nemes, István Bock, Norbert Varga, Anita Fehér, András Dinnyés, Julianna Kobolák
Peripheral blood was collected from a 1-year-old male patient with an X-linked recessive mutation of Iduronate 2-sulfatase (IDS) gene (NM_000202.7(IDS):c.85C>T) causing MPS II (OMIM 309900). Peripheral blood mononuclear cells (PBMCs) were reprogrammed by lentiviral delivery of a self-silencing hOKSM polycistronic vector. The pluripotency of the iPSC line was confirmed by the expression of pluripotency-associated markers and in vitro spontaneous differentiation towards the 3 germ layers. The iPSC line showed normal karyotype...
October 1, 2016: Stem Cell Research
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