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https://www.readbyqxmd.com/read/28923328/mutation-frequency-of-three-neurodegenerative-lysosomal-storage-diseases-from-screening-to-treatment
#1
Ana Joana Duarte, Diogo Ribeiro, Pedro Oliveira, Olga Amaral
BACKGROUND: The ascertainment of mutation frequencies in the general population may have impact on the population's wellbeing and respective healthcare services. Furthermore, it may help define which approaches will be more effective for certain patients based on the genetic cause of disease. AIM OF THE STUDY: Determine the frequency of three mutations, known to be a major cause of three distinct Lysosomal Storage Diseases (LSDs). METHODS: The following pre-requisites were met: each mutation accounted for over 55% of the disease alleles among previously reported unrelated patients, all three diseases were among the most prevalent LSDs in the population under study, they all involved devastating deterioration of the nervous system, lacked curative treatment and may be fatal in childhood or adolescence...
April 2017: Archives of Medical Research
https://www.readbyqxmd.com/read/28892147/carpal-tunnel-syndrome-in-mucopolysaccharidosis-i-a-registry-based-cohort-study
#2
David Viskochil, Joseph Muenzer, Nathalie Guffon, Christophe Garin, M Veronica Munoz-Rojas, Kristin A Moy, Douglas T Hutchinson
AIM: To characterize carpal tunnel syndrome (CTS) in patients with mucopolysaccharidosis I (MPS I). METHOD: Data were included for patients with MPS I who had either nerve conduction examination that included a diagnosis of CTS or who had CTS release surgery. Although this represented a subset of patients with CTS in the MPS I Registry, the criteria were considered the most objective for data analysis. RESULTS: As of March 2016, 994 patients were categorized with either severe (Hurler syndrome) or attenuated (Hurler-Scheie or Scheie syndromes) MPS I...
September 11, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28755358/social-functioning-and-behaviour-in-mucopolysaccharidosis-ih-hurlers-syndrome
#3
Annukka Lehtonen, Stewart Rust, Simon Jones, Richard Brown, Dougal Hare
BACKGROUND: Mucopolysaccharidosis type IH (MPS-IH) [Hurlers Syndrome] is a developmental genetic disorder characterised by severe physical symptoms and cognitive decline. This study aimed to investigate the behavioural phenotype of MPS-IH treated by haematopoietic cell transplantation, focusing on social functioning and sleep. Parental stress was also measured. METHODS: Participants were 22 children with MPS-IH (mean age 9 years 1 month), of whom 10 were male (45%)...
July 29, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28684085/incomplete-biomarker-response-in-mucopolysaccharidosis-type-i-after-successful-hematopoietic-cell-transplantation
#4
Gé-Ann Kuiper, Peter M van Hasselt, Jaap Jan Boelens, Frits A Wijburg, Eveline J Langereis
BACKGROUND: Residual disease, primarily involving musculoskeletal tissue, is a common problem in patients with neuronopathic mucopolysaccharidosis type I (MPS I, Hurler or severe Hurler-Scheie phenotype) after a successful hematopoietic cell transplantation (HCT). The concentration of the GAG derived biomarkers heparan sulfate (HS) and dermatan sulfate (DS), may reflect residual disease and is used for monitoring biochemical response to therapies. This study investigates the response of HS and DS in blood and urine to HCT in MPS I patients...
September 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28670500/peculiar-clinical-presentation-of-coxsackievirus-b4-infection-neonatal-restrictive-cardiomyopathy
#5
Pauline Le Van Quyen, Philippe Desprez, Angelo Livolsi, Véronique Lindner, Samira Fafi-Kremer, Pauline Helms, Maria Cristina Antal
Introduction  Restrictive cardiomyopathy in fetuses and neonates is extremely rare and has a poor outcome. Its etiology in neonates is elusive: metabolic diseases (e.g., Gaucher, Hurler syndrome), neuromuscular disorders (e.g., muscular dystrophies, myofibrillar myopathies), or rare presentation of genetic syndromes (e.g., Coffin-Lowry syndrome) account for a minority of the cases, the majority remaining idiopathic. Case Study  We report the case of a 17-day-old male infant presenting cardiogenic shock following a restrictive dysfunction of the left ventricle...
April 2017: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/28660346/adeno-associated-viral-gene-therapy-for-mucopolysaccharidoses-exhibiting-neurodegeneration
#6
REVIEW
Adeline A Lau, Kim M Hemsley
The mucopolysaccharidoses (MPS) are a subgroup of lysosomal storage disorders that are caused by mutations in the genes involved in glycosaminoglycan breakdown. Multiple organs and tissues are affected, including the central nervous system. At present, hematopoietic stem cell transplantation and enzyme replacement therapies are approved for some of the (non-neurological) MPS. Treatments that effectively ameliorate the neurological aspects of the disease are being assessed in clinical trials. This review will focus on the recent outcomes and planned viral vector-mediated gene therapy clinical trials, and the pre-clinical data that supported these studies, for MPS-I (Hurler/Scheie syndrome), MPS-II (Hunter syndrome), and MPS-IIIA and -IIIB (Sanfilippo syndrome)...
June 29, 2017: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
https://www.readbyqxmd.com/read/28619065/open-issues-in-mucopolysaccharidosis-type-i-hurler
#7
REVIEW
Rossella Parini, Federica Deodato, Maja Di Rocco, Edoardo Lanino, Franco Locatelli, Chiara Messina, Attilio Rovelli, Maurizio Scarpa
Mucopolysaccharidosis I-Hurler (MPS I-H) is the most severe form of a metabolic genetic disease caused by mutations of IDUA gene encoding the lysosomal α-L-iduronidase enzyme. MPS I-H is a rare, life-threatening disease, evolving in multisystem morbidity including progressive neurological disease, upper airway obstruction, skeletal deformity and cardiomyopathy. Allogeneic hematopoietic stem cell transplantation (HSCT) is currently the gold standard for the treatment of MPS I-H in patients diagnosed and treated before 2-2...
June 15, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28607814/chiari-i-malformation-and-syringomyelia-in-mucopolysaccharidosis-type-i-hurler-syndrome-treated-with-posterior-fossa-decompression-case-report-and-review-of-the-literature
#8
Vyacheslav Makler, Christina L Goldstein, Daniel Hoernschemeyer, Tomoko Tanaka
BACKGROUND: Hurler Syndrome is the most severe phenotype of mucopolysaccharidosis type I. With bone marrow transplant and enzyme replacement therapy, the life expectancy of a child with Hurler syndrome has been extended, predisposing them to multiple musculoskeletal issues most commonly involving the spine. CASE DESCRIPTION: This is the case report of a 6-year-old male with Hurler syndrome who was diagnosed with Chiari I malformation and cervicothoracic syringomyelia on a preoperative magnetic resonance imaging (MRI) for his thoracolumbar kyphosis...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/28590232/anesthesia-for-patients-with-mucopolysaccharidoses-comprehensive-review-of-the-literature-with-emphasis-on-airway-management
#9
REVIEW
Brittney M Clark, Juraj Sprung, Toby N Weingarten, Mary E Warner
Mucopolysaccharidoses (MPS) are rare, inherited, lysosomal storage diseases that cause accumulation of glycosaminoglycans, resulting in anatomic abnormalities and organ dysfunction that can increase the risk of anesthesia complications. We conducted a systematic review of the literature in order to describe the anesthetic management and perioperative outcomes in patients with MPS. We reviewed English-language literature search using an OVID-based search strategy of the following databases: 1) PubMed (1946-present), 2) Medline (1946-present), 3) EMBASE (1946-present), and 4) Web of Science (1946-present) using the following search terms: mucopolysaccharidosis, Hurler, Scheie, Sanfilippo, Morquio, Maroteaux, anesthesia, perioperative, intubation, respiratory insufficiency, and airway...
June 6, 2017: Bosnian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/28585336/liver-directed-human-amniotic-epithelial-cell-transplantation-improves-systemic-disease-phenotype-in-hurler-syndrome-mouse-model
#10
Natalie S Rodriguez, Lisa Yanuaria, Kevin Murphy R Parducho, Irving M Garcia, Bino A Varghese, Brendan H Grubbs, Toshio Miki
Mucopolysaccharidosis type 1 (MPS1) is an inherited lysosomal storage disorder caused by a deficiency in the glycosaminoglycan (GAG)-degrading enzyme α-l-iduronidase (IDUA). In affected patients, the systemic accumulation of GAGs results in skeletal dysplasia, neurological degeneration, multiple organ dysfunction, and early death. Current therapies, including enzyme replacement and bone marrow transplant, improve life expectancy but the benefits to skeletal and neurological phenotypes are limited. In this study, we tested the therapeutic efficacy of liver-directed transplantation of a placental stem cell, which possesses multilineage differentiation potential, low immunogenicity, and high lysosomal enzyme activity...
June 6, 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/28479223/the-frequency-of-carpal-tunnel-syndrome-in-hurler-syndrome-after-peritransplant-enzyme-replacement-therapy-a-retrospective-comparison
#11
Mitchell L Wyffels, Paul J Orchard, Ryan M Shanley, Weston P Miller, Ann E Van Heest
PURPOSE: Children with Hurler syndrome (HS) develop carpal tunnel syndrome (CTS) owing to glycosaminoglycan deposition secondary to enzyme deficiency. Advancement in the treatment of the underlying enzyme deficiency now commonly includes peritransplant intravenous enzyme replacement therapy (ERT). The primary objective of this study was to determine if the use of limited ERT in addition to hematopoietic stem cell transplantation (HCT) for the treatment of children with HS reduces the incidence of surgical intervention for CTS compared with a cohort of historical controls treated with HCT alone...
May 4, 2017: Journal of Hand Surgery
https://www.readbyqxmd.com/read/28421916/mucopolysaccharidoses-causing-valvular-heart-disease-report-and-review-of-surgical-management
#12
Carlos O Encarnacion, Dustin Hang, Michael Earing, Michael E Mitchell
Mucopolysaccharidosis type I is a genetic disorder with impaired glycosaminoglycan degradation. Cardiac pathologic involvement in this subset of patients is predominantly valvular heart disease. Valvular heart disease seen in these patients will most likely require surgical intervention in their lifetime. Only a limited amount of reports are dedicated to the cardiac surgical management of mucopolysaccharidoses. We present the case of a 32-year-old female with Hurler-Scheie syndrome who required multiple valve replacements due to progression of valvular dysfunction and decline in the quality of life...
January 1, 2017: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/28292383/mucopolysaccharidoses-clinical-spectrum-and-frequency-of-different-types
#13
Huma Arshad Cheema, Hassan Suleman Malik, Muhammad Almas Hashmi, Zafar Fayyaz, Iqra Mushtaq, Nagina Shahzadi
OBJECTIVE: To determine the relative frequency and clinical features of different varieties of mucopolysaccharidosis. STUDY DESIGN: Descriptive study. PLACE AND DURATION OF STUDY: Department of Pediatric Gastroenterology, Hepatology and Nutrition, The Children's Hospital and The Institute of Child Health, Lahore, from January 2013 to December 2015. METHODOLOGY: All patients who had any feature suggestive of mucopolysaccharidosis were screened with detailed history, clinical examination and skeletal survey...
February 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28283844/long-term-survival-and-cardiopulmonary-outcome-in-children-with-hurler-syndrome-after-haematopoietic-stem-cell-transplantation
#14
Su Han Lum, Karolina M Stepien, Arunabha Ghosh, Alexander Broomfield, Heather Church, Jean Mercer, Simon Jones, Robert Wynn
Premature death in untreated children with Hurler syndrome (HS) in the first decade of life is largely due to life-threatening cardiopulmonary complications. We examined the long-term survival and cardiopulmonary outcome in 54 children undergoing haematopoietic stem cell transplantation (HSCT) at the Royal Manchester Children's Hospital from 1985 to 2008. The median age at first HSCT was 15.1 months. Eighteen had graft failure and nine died after first HSCT. Of 18 patients with graft failure, 17 underwent second HSCT and the remaining one was lost to follow-up (LOF)...
May 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28218755/changes-in-the-incidence-patterns-and-outcomes-of-graft-failure-following-hematopoietic-stem-cell-transplantation-for-hurler-syndrome
#15
S H Lum, W P Miller, S Jones, K Poulton, W Ogden, H Lee, A Logan, D Bonney, T C Lund, P J Orchard, R F Wynn
Hematopoietic stem cell transplantation (HSCT) is the standard of care in children with Hurler syndrome (HS) as it is the only therapy that can arrest disease progression. We examined the incidence, patterns and outcomes of graft failure in all HS children undergoing first HSCT at the Royal Manchester Children's Hospital or the University of Minnesota Children's Hospital from 1983 to 2016. Implementation of busulfan pharmacokinetic monitoring started in 2004 in both institutions. Two hundred and forty HS children were included in this analysis (historical era (pre-2004), n=131; current era (post 2004), n=109)...
June 2017: Bone Marrow Transplantation
https://www.readbyqxmd.com/read/28205470/arthrodesis-of-little-finger-distal-interphalangeal-joint-in-flexion-to-regain-sporting-ability
#16
S M Beecher, D E O'Briain, J P Ng, E Murphy, M E O'Sullivan
BACKGROUND: Finger injuries are common in the sport of hurling. Injury to the little finger distal interphalangeal joint (DIPJ) often occurs when a high dropping ball impacts on the outstretched finger. The little finger contributes to approximately 15% of grip strength. Injury therefore results in reduced grip strength and may impair the ability of players to grip or catch a ball. METHODS: Six elite hurlers with post-traumatic arthritis of their non-dominant little finger DIPJ underwent arthrodesis in 30 degrees of flexion...
March 2017: Journal of Hand Surgery Asian-Pacific Volume
https://www.readbyqxmd.com/read/28193245/early-disease-progression-of-hurler-syndrome
#17
Bridget T Kiely, Jennifer L Kohler, Hannah Y Coletti, Michele D Poe, Maria L Escolar
BACKGROUND: Newborn screening for mucopolysaccharidosis type I (MPS I) shows promise to improve outcomes by facilitating early diagnosis and treatment. However, diagnostic tests for MPS I are of limited value in predicting whether a child will develop severe central nervous system disease associated with Hurler syndrome, or minimal or no central nervous system involvement associated with the attenuated phenotypes (Hurler-Scheie and Scheie syndromes). Given that the optimal treatment differs between Hurler syndrome and the attenuated MPS I phenotypes, the absence of a reliable prognostic biomarker complicates clinical decision making for infants diagnosed through newborn screening...
February 14, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28171706/subregional-brain-distribution-of-simple-and-complex-glycosphingolipids-in-the-mucopolysaccharidosis-type-i-hurler-syndrome-mouse-impact-of-diet
#18
Jennifer T Saville, Hong Ngoc Thai, Rebecca J Lehmann, Ainslie L K Derrick-Roberts, Maria Fuller
Gangliosides are the most complex oligosaccharide-containing glycosphingolipids defined by the presence of sialic acid and although present in all tissues, predominate in the brain. Considering their importance in neural development, it is unsurprising that ganglioside metabolism is altered in neurodegenerative diseases. The severe form of mucopolysaccharidosis type I, Hurler syndrome (HS), is characterised by progressive loss of neuronal function through largely undefined mechanisms. Here, we sought to interrogate brain gangliosides in a murine model of HS and further, assessed whether dietary modulation of lipid metabolism effected correction of the metabolic abnormalities...
April 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28170539/objective-quantification-of-changes-in-corneal-clouding-over-time-in-patients-with-mucopolysaccharidosis
#19
Ahmed Javed, Tariq Aslam, Simon A Jones, Jane Ashworth
Purpose: We determine objective changes in corneal opacification levels over time in patients with mucopolysaccharidoses (MPS) treated with enzyme replacement therapy or hematopoietic stem cell transplant. A prospective cohort study was done of 9 patients with MPS I (Hurler) or VI (Maroteaux-Lamy). Methods: Quantification of corneal clouding using the Iris camera and full ophthalmic examination, including subjective assessment of corneal clouding, was done in 2011 and repeated in 2015/2016...
February 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28125077/cognitive-outcomes-and-age-of-detection-of-severe-mucopolysaccharidosis-type-1
#20
Scott D Grosse, Wendy K K Lam, Lisa D Wiggins, Alex R Kemper
The US Secretary of Health and Human Services recommended in February 2016 that mucopolysaccharidosis type 1 (MPS I) be added to the recommended uniform screening panel for state newborn screening programs. One of the key factors in this decision was the evidence suggesting that earlier treatment with hematopoietic cell transplantation (HCT) for the most severe form, Hurler syndrome (MPS IH), would lead to improved cognitive outcomes. Consistent evidence from peer-reviewed studies suggests that transplantation in the first year of life is associated with improved developmental quotient or intelligence quotient and continued cognitive growth, with earlier age of treatment associated with improved outcomes...
September 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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