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Hurler syndrome

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https://www.readbyqxmd.com/read/27928775/lysosomal-storage-disorders-in-nonimmune-hydrops-fetalis-nihf-an-indian-experience
#1
Jayesh Sheth, Mehul Mistri, Krati Shah, Mayank Chaudhary, Koumudi Godbole, Frenny Sheth
Lysosomal storage disorders (LSD) are rare inherited neurovisceral inborn errors of metabolism which may present as nonimmune hydrops fetalis (NIHF) during pregnancy. Although causes of NIHF are highly diverse, LSDs are one of the underlying causes of NIHF. The aim of this study was to elucidate most frequent causes of LSDs presenting as NIHF in Indian population. Several fetal tissues were investigated for enzymatic diagnosis of LSDs using modified fluorometric assays in the current prospective study carried out at our national tertiary center from 2006 through 2016...
December 8, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27911282/role-of-rehabilitation-in-hurler-s-syndrome
#2
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
#3
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/27832551/anaesthetic-implications-of-the-changing-management-of-patients-with-mucopolysaccharidosis
#4
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/27788836/outcomes-of-long-term-treatment-with-laronidase-in-patients-with-mucopolysaccharidosis-type-i
#5
Sarah Laraway, Jean Mercer, Elisabeth Jameson, Jane Ashworth, Pauline Hensman, Simon A Jones
OBJECTIVE: To evaluate long-term outcomes of laronidase enzyme replacement therapy in patients with attenuated mucopolysaccharidosis type I. STUDY DESIGN: Retrospective analyses of case notes, laboratory results, and data from clinical trials were used to evaluate urinary glycosaminoglycans, forced vital capacity (FVC), 6-minute walk test (6MWT), height-for-age Z score, cardiac valve function, corneal clouding, and visual acuity in 35 patients with attenuated mucopolysaccharidosis type I (Hurler-Scheie and Scheie syndromes) for up to 10 years following the initiation of laronidase therapy...
November 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/27742266/proteomic-analysis-of-muccopolysaccharidosis-i-mouse-brain-with-two-dimensional-polyacrylamide-gel-electrophoresis
#6
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
https://www.readbyqxmd.com/read/27724940/parents-experiences-of-living-with-and-caring-for-children-adolescents-and-young-adults-with-mucopolysaccharidosis-mps
#7
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
https://www.readbyqxmd.com/read/27662232/haematopoietic-stem-cell-transplantation-in-inborn-errors-of-metabolism
#8
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
https://www.readbyqxmd.com/read/27601746/airway-management-in-hurler-s-syndrome-a-persistent-challenge-for-anaesthesiologists
#9
Sukhyanti Kerai, Vandana Saith, Rakesh Kumar, Saipriya Tewari
No abstract text is available yet for this article.
August 2016: Indian Journal of Anaesthesia
https://www.readbyqxmd.com/read/27601403/cutaneous-manifestations-of-mucopolysaccharidoses
#10
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
https://www.readbyqxmd.com/read/27397665/sleep-apnea-in-hurler-syndrome-looking-beyond-the-upper-airway
#11
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)...
October 15, 2016: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/27392569/musculoskeletal-manifestations-in-mucopolysaccharidosis-type-i-hurler-syndrome-following-hematopoietic-stem-cell-transplantation
#12
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...
July 8, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27235795/a-novel-explanation-of-corneal-clouding-in-a-bone-marrow-transplant-treated-patient-with-hurler-syndrome
#13
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
https://www.readbyqxmd.com/read/27146977/identification-and-characterization-of-20-novel-pathogenic-variants-in-60-unrelated-indian-patients-with-mucopolysaccharidoses-mps-type-i-and-type-ii
#14
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
https://www.readbyqxmd.com/read/27129473/alternative-laronidase-dose-regimen-for-patients-with-mucopolysaccharidosis-i-a-multinational-retrospective-chart-review-case-series
#15
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
https://www.readbyqxmd.com/read/27096052/design-of-novel-aminoglycoside-derivatives-with-enhanced-suppression-of-diseases-causing-nonsense-mutations
#16
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
https://www.readbyqxmd.com/read/27033167/enzyme-replacement-therapy-with-laronidase-aldurazyme-%C3%A2-for-treating-mucopolysaccharidosis-type-i
#17
REVIEW
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
https://www.readbyqxmd.com/read/26965916/12-year-follow-up-of-enzyme-replacement-therapy-in-two-siblings-with-attenuated-mucopolysaccharidosis-i-the-important-role-of-early-treatment
#18
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
https://www.readbyqxmd.com/read/26937401/enzyme-replacement-therapy-in-hurler-syndrome-after-failure-of-hematopoietic-transplant
#19
Leonor Arranz, Luis Aldamiz-Echevarria
The most severe form of Mucopolysaccharosidosis type I (MPS-I), Hurler syndrome, presents with progressive respiratory, cardiac and musculoskeletal symptoms and cognitive deterioration. Treatment includes enzyme replacement therapy (ERT) and/or hematopoietic stem cell transplantation (HSCT). We describe the case of an 8-year old boy with MPS-I, homozygous for W402X, treated at 10 months of age with HSCT and after failure of the transplant, with ERT during 2 years showing good results, including a positive neuropsychological development...
June 2015: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/26935461/progression-of-hip-dysplasia-in-mucopolysaccharidosis-type-i-hurler-after-successful-hematopoietic-stem-cell-transplantation
#20
Eveline J Langereis, Matthijs M den Os, Catherine Breen, Simon A Jones, Olga C Knaven, Jean Mercer, Weston P Miller, Paula M Kelly, Jim Kennedy, Tyler G Ketterl, Anne O'Meara, Paul J Orchard, Troy C Lund, Rick R van Rijn, Ralph J Sakkers, Klane K White, Frits A Wijburg
BACKGROUND: Dysostosis multiplex contributes substantially to morbidity in patients with Hurler syndrome (mucopolysaccharidosis type I Hurler phenotype [MPS I-H]), even after successful hematopoietic stem cell transplantation (HSCT). One of the hallmarks of dysostosis multiplex in MPS I-H is hip dysplasia, which often requires surgical intervention. We sought to describe in detail the course of hip dysplasia in this group of patients, as assessed by radiographic analysis, and to identify potential outcome predictors...
March 2, 2016: Journal of Bone and Joint Surgery. American Volume
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