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Li Ou, Michael J Przybilla, Chester B Whitley
Mucopolysaccharidosis type I (MPS I) is due to deficiency of α-l-iduronidase (IDUA) and subsequent storage of undegraded glycosaminoglycans (GAG). The severe form of the disease, known as Hurler syndrome, is characterized by mental retardation and neurodegeneration of unknown etiology. To identify potential biomarkers and unveil the neuropathology mechanism of MPS I disease, two-dimensional polyacrylamide gel electrophoresis (PAGE) and nanoliquid chromatography-tandem mass spectrometry (nanoLC-MS/MS) were applied to compare proteome profiling of brains from MPS I and control mice (5-month old)...
October 11, 2016: Molecular Genetics and Metabolism
S Somanadhan, P J Larkin
BACKGROUND: Many rare diseases of childhood are life-threatening and chronically debilitating, so living with a rare disease is an on-going challenge for patients and their families. MPS is one of a range of rare inherited metabolic disorders (IMDs) that come under category 3 of life-limiting conditions, where there is no curative treatment available at present. Although the study of rare diseases is increasingly novel, and of clinical importance to the population, the lack of empirical data in the field to support policy and strategy development is a compelling argument for further research to be sought...
October 10, 2016: Orphanet Journal of Rare Diseases
Robert Chiesa, Robert F Wynn, Paul Veys
PURPOSE OF REVIEW: This review summarizes the main results of haematopoietic stem cell transplantation (HSCT) in selected inborn errors of metabolism (IEMs). RECENT FINDINGS: Early diagnosis and immediate referral to an IEM specialist is of paramount importance to improve clinical outcome: patients who are transplanted early or in their presymptomatic phase generally achieve better correction of their somatic symptoms and neurocognitive development. Long-term outcome in children with Hurler syndrome is influenced by age at HSCT, baseline clinical status and post-HSCT enzyme levels...
November 2016: Current Opinion in Hematology
N Sandeep, Shailender Rawal, Surekha Dabla, Sameer Aggarwal, Manjri
We present a very rare case of mucopolysaccharidosis type I (MPS I) which presented to us with respiratory distress. Our patient had short stature, coarse facial features, claw hands and clouding of both corneae. This article highlights the salient features present in a case of mucopolysaccharidosis type I.
October 2015: Journal of the Association of Physicians of India
Sukhyanti Kerai, Vandana Saith, Rakesh Kumar, Saipriya Tewari
No abstract text is available yet for this article.
August 2016: Indian Journal of Anaesthesia
Mimi C Tran, Joseph M Lam
Mucopolysaccharidoses (MPSs) are a group of inherited lysosomal storage disorders characterized by deficiencies in specific enzymes involved in the catabolism of glycosaminoglycans (GAGs). These deficiencies cause excessive metabolites to accumulate in multiple organs. There are eight different MPS disorders, contributing to the wide variation in clinical presentation. Depending on the severity and subtype of the disease, some children live normal life spans, while others have a more grim prognosis. Children with MPS can present with neurologic, behavioral, skeletal, cardiovascular, gastrointestinal, or respiratory abnormalities...
September 7, 2016: Pediatric Dermatology
Julia B Hennermann, Seyfullah Gökce, Alexander Solyom, Eugen Mengel, Edward H Schuchman, Calogera M Simonaro
Current treatment options for MPS I have limited effects on some organs, including the skeletal system. In MPS animal models pentosan polysulphate (PPS) reduces the concentrations of glycosaminoglycans (GAGs) in tissues and body fluids and improves cartilaginous and osseous pathologies. The goals of this study were to investigate primarily the safety and secondary the clinical effects, concerning mobility and pain, of PPS treatment in MPS I patients. Four MPS I-Hurler-Scheie/-Scheie patients aged 35.6 ± 6...
November 2016: Journal of Inherited Metabolic Disease
A Soni-Jaiswal, J Mercer, S A Jones, I A Bruce, P Callery
BACKGROUND: Hematopoietic stem cell transplants, alongside enzyme replacement therapy and good multi-disciplinary care, have dramatically improved the life expectancy in children with Mucopolysaccharidosis (MPS) I, with better objective and functional outcomes. Despite these improvements, children with both the attenuated (non-Hurler) and severe (Hurler) variants of the disease have marked residual morbidity. Children with MPS I suffer with head and neck disease including obstructive sleep apnoea and hearing loss...
2016: Orphanet Journal of Rare Diseases
Edwenia O'Malley, John C Murphy, Ulrik McCarthy Persson, Conor Gissane, Catherine Blake
Team-based neuromuscular training programs for injury prevention have been tested primarily in female and adolescent athletes in soccer, handball and basketball, with limited research in adult male field sports. This study explored whether the GAA 15, a multifaceted 8-week neuromuscular training program could improve risk factors for lower limb injury in male Gaelic footballers and hurlers. Four Gaelic sports collegiate teams were randomized into intervention or control groups. Two teams, one football, one hurling, (n=41), were allocated to the intervention, undertaking a 15 minute program of neuromuscular training exercises at the start of team training sessions, twice weekly for 8 weeks...
July 7, 2016: Journal of Strength and Conditioning Research
Sumera Shaikh Solaiman, Daniel Scott Rifkin, Harish Rao
This case involves a 13-month-old male with Hurler syndrome. Due to oxygen desaturations during sleep, this patient was referred for polysomnography, which revealed severe mixed sleep apnea (apnea hypopnea index [AHI] 72 events/h). Because sleep apnea in patients with Hurler syndrome is frequently attributed to upper airway obstruction, he was referred to otolaryngology. Prior to his evaluation by otolaryngology, he underwent ventriculoperitoneal (VP) shunt placement, which had been scheduled due to hydrocephalus on brain magnetic resonance imaging (MRI)...
July 1, 2016: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
Mona Schmidt, Sandra Breyer, Ulrike Löbel, Sinef Yarar, Ralf Stücker, Kurt Ullrich, Ingo Müller, Nicole Muschol
BACKGROUND: Hematopoietic stem cell transplantation (HSCT) is the treatment of choice for young Hurler patients. Despite halting of neurocognitive decline and improvement of life expectancy, the beneficial effect on the skeletal system is limited. As orthopedic complications are one of the most disabling factors following HSCT, this points to the need for new treatment strategies. The study summarizes musculoskeletal manifestations in 19 transplanted Hurler patients. METHODS: Data were obtained retrospectively...
2016: Orphanet Journal of Rare Diseases
Damien J Byrne, Declan T Browne, Paul J Byrne, Noel Richardson
The purpose of this study was to investigate the inter-day reliability of the reactive strength index (RSI) and optimal drop height (ODH) identification from multiple drop heights. Nineteen male trained hurling players (23.1±2.9 years, 83.1±15.5kg, and 182.5±54.89cm) completed 2 maximal depth jumps from 4 incremental drop heights (30, 40, 50, 60cm), over two separate testing sessions 48 hours apart. The RSI and ODH were analysed for reliability using intraclass correlation coefficient (ICC) and coefficient of variation (CV)...
June 28, 2016: Journal of Strength and Conditioning Research
Reena Anand, Deepak Bhatia, D S Yadav
Mucopolysaccharidosis I (MPS I) is a rare inherited disorder characterized by physical deformities and developmental anomalies. Part of a group of clinically progressive disorders, it is caused by the deficiency of the lysosomal enzyme, α-L -iduronidase, which results in intralysosomal accumulation of dermatan sulfate and heparan sulfate and in turn causes cell dysfunction. Two sisters, one 11 years old and the other 7, both MPS type I H/S, came to our diagnostic center. Hand-wrist radiographs revealed bullet-shaped phalanges with proximal pointing of the second to fifth metacarpals...
2012: Radiology case reports
Ching Yuan, Erick D Bothun, David R Hardten, Jakub Tolar, Linda K McLoon
One common complication of mucopolysaccharidosis I-Hurler (MPS1-H) is corneal clouding, which occurs despite current treatments, including bone marrow transplantation. Human corneas were obtained from a 14 year old subject with MPS1-H and visual disability from progressive corneal clouding despite a prior bone marrow transplant at age 2. This was compared to a cornea from a 17 year old donated to our eye bank after his accidental death. The corneas were analyzed microscopically after staining with Alcian blue, antibodies to collagen I, IV, VI, and α-smooth muscle actin...
July 2016: Experimental Eye Research
Anusha Uttarilli, Prajnya Ranganath, Divya Matta, Jamal Md Nurul Jain, Krishna Prasad C, Sobhan Babu A, Katta M Girisha, Ishwar C Verma, Shubha R Phadke, Kausik Mandal, Ratna D Puri, Shagun Aggarwal, Sumita Danda, Sankar V H, Seema Kapoor, Meenakshi Bhat, Kalpana Gowrishankar, Annie Q Hasan, Mohandas Nair, Sheela Nampoothiri, Ashwin Dalal
Mucopolysaccharidoses (MPS), a sub-group of lysosomal storage disorders, are caused due to deficiency of specific lysosomal enzyme involved in catabolism of glycosaminoglycans. To date more than 200 pathogenic variants in the alpha-L-iduronidase (IDUA) for MPS I and ~500 pathogenic variants in the iduronate-2-sulphatase (IDS) for MPS II have been reported worldwide. The mutation spectrum of MPS type I and MPS type II disorders in Indian population is not characterized yet. In the present study we carried out clinical, biochemical, molecular and in silico analyses to establish the mutation spectrum of MPS I and MPS II in the Indian population...
May 5, 2016: Clinical Genetics
Dafne Dain Gandelman Horovitz, Angelina X Acosta, Roberto Giugliani, Anna Hlavatá, Katarína Hlavatá, Michel C Tchan, Anneliese Lopes Barth, Laercio Cardoso, Emília Katiane Embiruçu de Araújo Leão, Ana Carolina Esposito, Sandra Obikawa Kyosen, Carolina Fischinger Moura De Souza, Ana Maria Martins
BACKGROUND: Enzyme replacement therapy (ERT) with laronidase (recombinant human α-L-iduronidase, Aldurazyme®) is indicated for non-neurological signs and symptoms of mucopolysaccharidosis type I (MPS I). The approved laronidase dose regimen is weekly infusions of 0.58mg/kg, however, patients and caregivers may have difficulty complying with the weekly regimen. We examined clinical outcomes, tolerability, compliance, and satisfaction in a series of patients who switched to every other week infusions...
2016: Orphanet Journal of Rare Diseases
Narayana Murthy Sabbavarapu, Michal Shavit, Yarden Degani, Boris Smolkin, Valery Belakhov, Timor Baasov
New pseudotrisaccharide derivatives of aminoglycosides that exploit additional interaction on the shallow groove face of the decoding-site rRNA of eukaryotic ribosome were designed, synthesized and biologically evaluated. Novel lead structures (6 and 7 with an additional 7'-OH), exhibiting enhanced specificity to eukaryotic cytoplasmic ribosome, and superior nonsense mutation suppression activity than those of gentamicin, were discovered. The comparative benefit of new leads was demonstrated in four different nonsense DNA-constructs underling the genetic diseases cystic fibrosis, Usher syndrome, and Hurler syndrome...
April 14, 2016: ACS Medicinal Chemistry Letters
Sidharth Sonthalia, Rashmi Khurana
No abstract text is available yet for this article.
March 2016: Indian Journal of Dermatology
Elisabeth Jameson, Simon Jones, Tracey Remmington
BACKGROUND: Mucopolysaccharidosis type I can be classified as three clinical sub-types; Hurler syndrome, Hurler-Scheie syndrome and Scheie syndrome, with the scale of severity being such that Hurler syndrome is the most severe and Scheie syndrome the least severe. It is a rare, autosomal recessive disorder caused by a deficiency of alpha-L-iduronidase. Deficiency of this enzyme results in the accumulation of glycosaminoglycans within the tissues. The clinical manifestations are facial dysmorphism, hepatosplenomegaly, upper airway obstruction, skeletal deformity and cardiomyopathy...
2016: Cochrane Database of Systematic Reviews
Orazio Gabrielli, Lorne A Clarke, Anna Ficcadenti, Lucia Santoro, Lucia Zampini, Nicola Volpi, Giovanni V Coppa
BACKGROUND: Mucopolysaccharidosis type I is an autosomal recessive disorder caused by deficiency of α-L-iduronidase and characterized by a progressive course with multisystem involvement. Clinically, Mucopolysaccharidosis type I is classified into two forms: severe (Hurler syndrome), which presents in infancy and is characterized by rapid progressive neurological involvement and attenuated (Hurler/Scheie and Scheie syndromes), which presents with slower progression and absent to mild nervous system involvement...
2016: BMC Medical Genetics
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