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https://www.readbyqxmd.com/read/28054207/mortality-after-hematopoietic-stem-cell-transplantation-for-severe-mucopolysaccharidosis-type-i-the-30-year-university-of-minnesota-experience
#1
Nathan J Rodgers, Alexander M Kaizer, Weston P Miller, Kyle D Rudser, Paul J Orchard, Elizabeth A Braunlin
BACKGROUND AND AIM: Mucopolysaccharidosis IH (MPS IH, Hurler syndrome) naturally leads to death within the first decade of life, primarily from cardiac and pulmonary causes. To determine how hematopoietic stem cell transplantation (HSCT) has altered mortality, we analyzed our institution's 30-year experience of patients with MPS IH undergoing HSCT. METHODS: Using chart review and the National Death Index, we determined survival status of 134 patients (males = 69) with MPS IH transplanted between 9/16/1983 and 7/25/2013 on 12/31/2013...
January 4, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28031499/mid-term-outcome-of-total-hip-arthroplasty-using-a-short-stem
#2
Rajesh Malhotra, Vijay Kumar
PURPOSE: To review the outcome of total hip arthroplasty (THA) using a short femoral stem in 33 hips. METHODS: Records of 33 hips in 20 men and 10 women aged 25 to 40 (mean, 30) years who underwent cementless THA using a short femoral stem by a single senior surgeon were reviewed. The diagnosis included avascular necrosis (n=9), ankylosing spondylitis (n=12), rheumatoid arthritis (n=7), posttraumatic arthritis (n=4), and Hurler syndrome (n=1). Clinical outcome was assessed using the Harris Hip Score...
December 2016: Journal of Orthopaedic Surgery
https://www.readbyqxmd.com/read/28005466/seasonal-changes-in-body-composition-of-inter-county-gaelic-athletic-association-hurlers
#3
Robert W Davies, Clodagh Toomey, William McCormack, Cian O'Neill, Katie Hughes, Philip Jakeman
Longitudinal change in body composition for elite-level inter-county hurlers was reported over a single season and four consecutive seasons. Body composition measured by dual-energy x-ray absorptiometry (DXA) of 66 senior, male, outfield players was obtained. Four successive measurements were taken: off-season (OFF1), pre-season (PRE), mid-season (MID) and the off-season of the following season (OFF2). A subsample of 11 hurlers were measured at all time points over 4 consecutive seasons. DXA-derived estimates of fat and lean mass were normalised to stature for analysis (kg∙m(‒2)); data are (mean [lower: upper, 95% confidence interval])...
December 22, 2016: Journal of Sports Sciences
https://www.readbyqxmd.com/read/27991992/neurological-outcomes-after-hematopoietic-stem-cell-transplantation-for-cerebral-x-linked-adrenoleukodystrophy-late-onset-metachromatic-leukodystrophy-and-hurler-syndrome
#4
Jonas Alex Morales Saute, Carolina Fischinger Moura de Souza, Fabiano de Oliveira Poswar, Karina Carvalho Donis, Lillian Gonçalves Campos, Adriana Vanessa Santini Deyl, Maira Graeff Burin, Carmen Regla Vargas, Ursula da Silveira Matte, Roberto Giugliani, Maria Luiza Saraiva-Pereira, Leonardo Modesti Vedolin, Lauro José Gregianin, Laura Bannach Jardim
Objective: To describe survival and neurological outcomes after HSCT for these disorders. Methods: Seven CALD, 2 MLD and 2 MPS-IH patients underwent HSCT between 2007 and 2014. Neurological examinations, magnetic resonance imaging, molecular and biochemical studies were obtained at baseline and repeated when appropriated. Results: Favorable outcomes were obtained with 4/5 related and 3/6 unrelated donors. Two patients died from procedure-related complications...
December 2016: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/27989932/allele-level-hla-matching-impacts-key-outcomes-following-umbilical-cord-blood-transplantation-for-inherited-metabolic-disorders
#5
Kanwaldeep K Mallhi, Angela R Smith, Todd E DeFor, Troy C Lund, Paul J Orchard, Weston P Miller
Allogeneic hematopoietic stem cell transplantation has demonstrated efficacy for numerous inherited metabolic disorders (IMDs). Umbilical cord blood transplant (UCBT) is increasingly used as a graft source in IMDs, but little is known of the impact of cord blood unit (CBU)/recipient HLA allelic disparity on key outcomes following UCBT for IMD. We reviewed outcomes of 106 consecutive first, single UCBTs for IMD at the University of Minnesota with regard to CBU/recipient HLA allelic matching (HLA-A, -B, -C, and -DRB1)...
January 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/27928775/lysosomal-storage-disorders-in-nonimmune-hydrops-fetalis-nihf-an-indian-experience
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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/27608704/hurler-scheie-disease
#14
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
https://www.readbyqxmd.com/read/27601746/airway-management-in-hurler-s-syndrome-a-persistent-challenge-for-anaesthesiologists
#15
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
#16
REVIEW
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...
November 2016: Pediatric Dermatology
https://www.readbyqxmd.com/read/27590017/treatment-with-pentosan-polysulphate-in-patients-with-mps-i-results-from-an-open-label-randomized-monocentric-phase-ii-study
#17
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
https://www.readbyqxmd.com/read/27406185/mucopolysaccharidosis-i-parental-beliefs-about-the-impact-of-disease-on-the-quality-of-life-of-their-children
#18
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
https://www.readbyqxmd.com/read/27398918/the-effects-of-the-gaa-15-training-program-on-neuromuscular-outcomes-in-gaelic-football-and-hurling-players-a-randomized-cluster-trial
#19
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
https://www.readbyqxmd.com/read/27397665/sleep-apnea-in-hurler-syndrome-looking-beyond-the-upper-airway
#20
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
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