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Hurler-Scheie syndrome

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https://www.readbyqxmd.com/read/27788836/outcomes-of-long-term-treatment-with-laronidase-in-patients-with-mucopolysaccharidosis-type-i
#1
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/27724940/parents-experiences-of-living-with-and-caring-for-children-adolescents-and-young-adults-with-mucopolysaccharidosis-mps
#2
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/27146977/identification-and-characterization-of-20-novel-pathogenic-variants-in-60-unrelated-indian-patients-with-mucopolysaccharidoses-mps-type-i-and-type-ii
#3
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
#4
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/27033167/enzyme-replacement-therapy-with-laronidase-aldurazyme-%C3%A2-for-treating-mucopolysaccharidosis-type-i
#5
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
#6
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/26920904/multidisciplinary-team-approach-is-key-for-managing-pregnancy-and-delivery-in-patient-with-rare-complex-mps-i
#7
J Troko, Y Poonawala, T Geberhiwot, B Martin
A 23-year-old primiparous lady (Ms S) was referred to preconception clinic with known Hurler-Scheie syndrome (mucopolysaccharidosis 1). Ms S had been under the care of the adult inherited metabolic disorder physicians prior to becoming pregnant. She and her partner received prenatal counselling and following spontaneous conception was closely managed by a multidisciplinary team involving foetomaternal obstetricians, anaesthetists, cardiologists, geneticists and endocrinologists in two tertiary referral hospitals throughout her pregnancy...
2016: JIMD Reports
https://www.readbyqxmd.com/read/26546621/urgent-resection-of-a-giant-left-atrial-appendage-aneurysm-and-mitral-valve-replacement-in-a-complex-case-of-hurler-scheie-syndrome
#8
Andrew Brazier, Ragheb Hasan, Petra Jenkins, Andreas Hoschtitzky
Hurler-Scheie syndrome is a rare lysosomal storage disease affecting the cardiovascular system. Besides the cardiac manifestations, it presents with complications from abnormal proteoglycan deposition in soft tissues in many locations, resulting in joint contractures, paraplegia, impaired vision, airway narrowing and restrictive lung function, to name a few. There are very few reports of surgical management of valvular heart disease due to mucopolysaccharidosis (MPS). We describe the successful management of a patient with an extremely challenging case of mitral valve stenosis and a giant left atrial appendage aneurysm due to MPS type 1 (Hurler-Scheie syndrome)...
November 5, 2015: BMJ Case Reports
https://www.readbyqxmd.com/read/26446585/early-treatment-with-laronidase-improves-clinical-outcomes-in-patients-with-attenuated-mps-i-a-retrospective-case-series-analysis-of-nine-sibships
#9
Nouriya A Al-Sannaa, Luisa Bay, Deborah S Barbouth, Youssef Benhayoun, Cyril Goizet, Norberto Guelbert, Simon A Jones, Sandra Obikawa Kyosen, Ana Maria Martins, Chanika Phornphutkul, Celia Reig, Rebecca Pleat, Shari Fallet, Iva Ivanovska Holder
BACKGROUND: Enzyme replacement therapy (ERT) with laronidase, (recombinant human α-L-iduronidase; Aldurazyme) is the primary treatment option for patients with attenuated mucopolysaccharidosis type I (MPS I). This study examined the effect of early ERT on clinical manifestations. METHODS: This multinational, retrospective case series abstracted data from records of 20 patients with Hurler-Scheie syndrome within nine sibships that included older siblings treated with laronidase after the development of significant clinical symptoms, and younger siblings treated before significant symptomatology...
October 7, 2015: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/25558755/mutation-c-1190-1delg-n-in-intron-8-and-c-1708g-c-n-in-exon-12-not-reported-in-the-idua-gene-developed-a-clinical-phenotype-of-scheie-syndrome
#10
Wilmer N Delgado Luengo, Luis E Miranda Contreras, Carlos J Chávez, Ernesto Solis-Añez, Francisco Cammarata-Scalisi
Mucopolysaccharidoses are a group of lysosomal storage disorders caused by deficiency of enzymes catalyzing the degradation of glycosaminoglycans. Mucopoly-saccharidosis I can present a wide range of phenotypic characteristics with three major recognized clinical entities: Hurler and Scheie syndromes represent phenotypes at the severe and mild ends of the clinical spectrum, respectively, and the Hurler-Scheie syndrome is intermediate in phenotypic expression. These are caused by the deficiency or absence of alpha-L-iduronidase, essential to the metabolism of both dermatan and heparan sulfate, and it is encoded by the lDUA gene...
December 2014: Investigación Clínica
https://www.readbyqxmd.com/read/25391186/review-of-mucopolysaccharidosis-diseases-at-the-queen-sirikit-national-institute-of-child-health-in-the-past-15-years
#11
Chulaluck Kuptanon, Sutthipong Pangkanon
BACKGROUND: Mucopolysaccharidosis (MPS) can be classified into 7 types according to the enzyme defects. Several countries use enzyme replacement therapy (ERT) as treatment for types 1, 2 and 6. ERT is very expensive:--therefore, to determine if this treatment could be made available in Thailand, it is important to know the numbers of the patients with MPS. OBJECTIVES: To investigate the number and clinical profiles of MPS patients who visited the Queen Sirikit National Institute of Child Health (QSNICH) to determine the incidence of MPS in Thailand...
June 2014: Journal of the Medical Association of Thailand, Chotmaihet Thangphaet
https://www.readbyqxmd.com/read/24825081/growth-hormone-treatment-in-a-patient-with-hurler-scheie-syndrome
#12
Douglas G Rogers, Nat Nasomyont
A female patient with known Hurler-Scheie syndrome, who underwent hematopoietic cell transplantation, presented with growth retardation and delayed puberty. She started growth hormone (GH) treatment at age 12.33 years, resulting in significantly improved linear growth and predicted adult height. We describe details of her clinical course and literature review of growth pattern as well as GH use in patients with mucopolysaccharidosis I.
September 2014: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/24706723/deep-anterior-lamellar-keratoplasty-in-case-of-hurler-scheie-syndrome
#13
Alok Sati, Muralidhar Ramappa, Sunita Chaurasia, Sitarama M Prasad
A 12-year-old boy with Hurler-Scheie syndrome (H/S syndrome) reported with reduced vision in both the eyes for past few years. Deep anterior lamellar keratoplasty (DALK) was performed for visual rehabilitation in his left eye. During surgery, the predescemet's plane was reached by meticulously dissecting the lamellar fibres using a manual technique. Histopathology of the dissected cornea showed the presence of numerous alcian blue positive deposits corroborating with the diagnosis of mucopolysaccharidosis (MPS)...
2014: BMJ Case Reports
https://www.readbyqxmd.com/read/24675674/the-natural-history-of-mps-i-global-perspectives-from-the-mps-i-registry
#14
MULTICENTER STUDY
Michael Beck, Pamela Arn, Roberto Giugliani, Joseph Muenzer, Torayuki Okuyama, John Taylor, Shari Fallet
PURPOSE: In this study, we aimed to describe the natural history of mucopolysaccharidosis I. METHODS: Data from 1,046 patients who enrolled in the MPS I Registry as of August 2013 were available for descriptive analysis. Only data from untreated patients and data prior to treatment for patients who received treatment were considered. Age at symptom onset, diagnosis, and treatment initiation were examined by geographic region and phenotype (from most to least severe: Hurler, Hurler-Scheie, and Scheie)...
October 2014: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/24669375/indications-for-and-outcomes-of-deep-anterior-lamellar-keratoplasty-in-mucopolysaccharidoses
#15
Jose Reinaldo da Silva Ricardo, Jnanankar Medhi, Roberto Pineda
PURPOSE: To describe the outcome of deep anterior lamellar keratoplasty (DALK) for visually significant corneal clouding in patients with mucopolysaccharidoses (MPS). METHODS: A retrospective consecutive case series of patients with MPS and corneal clouding were analyzed at a tertiary eye hospital. A review of the English literature regarding MPS and DALK was performed. The main outcomes measures of the study were intraoperative surgical complications, change in visual acuity, and postoperative DALK-related complications...
November 2013: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/24368159/neurocognitive-and-neuropsychiatric-phenotypes-associated-with-the-mutation-l238q-of-the-%C3%AE-l-iduronidase-gene-in-hurler-scheie-syndrome
#16
Alia Ahmed, Chester B Whitley, Renee Cooksley, Kyle Rudser, Stephanie Cagle, Nadia Ali, Kathleen Delaney, Brianna Yund, Elsa Shapiro
UNLABELLED: The lysosomal enzyme α-L-iduronidase hydrolyzes terminal iduronic acid from heparan sulfate and dermatan sulfate, and is an essential step in GAG degradation. Mutations of its gene, IDUA, yield a spectrum of mucopolysaccharidosis (MPS) type I clinical disorders. The IDUA mutation, c.712T>A (p.L238Q) was previously noted as a mild mutation. In a longitudinal study of MPS brain structure and function (Lysosomal Disease Network), we found this mutation in 6 of 14 Hurler-Scheie syndrome patients in the age range of 15 to 25 years...
February 2014: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/24257962/enzyme-replacement-therapy-with-laronidase-aldurazyme-%C3%A2-for-treating-mucopolysaccharidosis-type-i
#17
REVIEW
Elisabeth Jameson, Simon Jones, James E Wraith
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...
2013: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/24085657/enzyme-replacement-therapy-with-laronidase-aldurazyme-for-treating-mucopolysaccharidosis-type-i
#18
REVIEW
Elisabeth Jameson, Simon Jones, James E Wraith
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...
2013: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/24053568/a-pilot-newborn-screening-program-for-mucopolysaccharidosis-type-i-in-taiwan
#19
Shuan-Pei Lin, Hsiang-Yu Lin, Tuen-Jen Wang, Chia-Ying Chang, Chia-Hui Lin, Sung-Fa Huang, Chia-Chen Tsai, Hsuan-Liang Liu, Joan Keutzer, Chih-Kuang Chuang
BACKGROUND: Mucopolysaccharidosis type I (MPS I) is a genetic disease caused by the deficiency of α-L-iduronidase (IDUA) activity. MPS I is classified into three clinical phenotypes called Hurler, Scheie, and Hurler-Scheie syndromes according to their clinical severity. Treatments for MPS I are available. Better outcomes are associated with early treatment, which suggests a need for newborn screening for MPS I. The goal of this study was to determine whether measuring IDUA activity in dried blood on filter paper was effective in newborn screening for MPS I...
2013: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/23070190/-mucopolysaccharidosis-i-hurler-syndrome-a-case-report
#20
Milagros Amorín, Andrea Carlin, Ana Prötzel
Mucopolysaccharidosis I (MPS I) is a rare, recessively inherited, lysosomal storage disorder caused by deficiency on the enzyme a-L-iduronidase. This defect results in accumulation of heparan and dermatan sulfate in different tissues and organs due to a deficiency in the catabolism of glycosaminoglycans. The overall incidence of MPS I is 0.99-1.99/100.000 live births. There are three clinical presentations: Hurler (severe), Hurler Scheie (mild) and Scheie (mild). We report the case of a 10-years-old male patient diagnosed with Hurler syndrome, the severe presentation, 5 years ago by enzyme a-L-iduronidase activity measurement in leukocytes; with a history of recurrent respiratory infections, umbilical hernia, corneal opacity, coarse facial features, macroglossia, hearing loss, stiffness of joints, cardiac compromise, claw hands, mental retardation and stunted growth...
October 2012: Archivos Argentinos de Pediatría
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