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Mucopolysaccharidose

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https://www.readbyqxmd.com/read/29752520/mucopolysaccharidoses-overview-of-neuroimaging-manifestations
#1
Manal Nicolas-Jilwan, Moeenaldeen AlSayed
The mucopolysaccharidoses are a heterogeneous group of inherited lysosomal storage disorders, characterized by the accumulation of undegraded glycosaminoglycans in various organs, leading to tissue damage. Mucopolysaccharidoses include eight individual disorders (IS [Scheie syndrome], IH [Hurler syndrome], II, III, IV, VI, VII and IX). They have autosomal-recessive transmission with the exception of mucopolysaccharidosis II, which is X-linked. Each individual disorder has a wide spectrum of phenotypic variation, depending on the specific mutation, from very mild to very severe...
May 11, 2018: Pediatric Radiology
https://www.readbyqxmd.com/read/29747998/delayed-development-of-ossification-centers-in-the-tibia-of-prenatal-and-early-postnatal-mps-vii-mice
#2
Zhirui Jiang, Ainslie L K Derrick-Roberts, Matilda R Jackson, Charné Rossouw, Carmen E Pyragius, Cory Xian, Janice Fletcher, Sharon Byers
Short stature is a characteristic feature of most of the mucopolysaccharidoses, a group of inherited lysosomal storage disorders caused by a single enzyme deficiency. MPS patients present with progressive skeletal defects from an early age, including short stature due to impaired cartilage-to-bone conversion (endochondral ossification). The aim of this study was to determine which murine MPS model best reproduces the bone length reduction phenotype of human MPS and use this model to determine the earliest developmental stage when disrupted endochondral ossification first appears...
May 3, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29687523/safety-of-anesthesia-for-children-with-mucopolysaccharidoses-a-retrospective-analysis-of-54-patients
#3
Vittorio Scaravilli, Alberto Zanella, Valentina Ciceri, Mariagrazia Bosatra, Claudia Flandoli, Alessia La Bruna, Simone Sosio, Rossella Parini, Serena Gasperini, Antonio Pesenti, Alessandra Moretto
BACKGROUND: Complications are common during anesthesia for patients with mucopolysaccharidoses. San Gerardo Hospital (Italy) is a reference center for mucopolysaccharidoses with a dedicated pediatric anesthesia service. AIMS: This study aims to evaluate the safety of anesthesia for mucopolysaccharidoses patients, describe their anesthetic management at our institution, and assess risk factors for complications. METHODS: The anesthetic charts of mucopolysaccharidoses patients admitted from January 1999 to December 2014 were retrospectively analyzed...
April 23, 2018: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/29683519/children-with-mucopolysaccharidosis-risk-progressive-visual-dysfunction-despite-haematopoietic-stem-cell-transplants
#4
Kristina Teär Fahnehjelm, Monica Olsson, Enping Chen, Jürg Hengstler, Karin Naess, Jacek Winiarski
AIM: This prospective study assessed the long-term ocular and visual outcomes of children with mucopolysaccharidoses type I Hurler syndrome (MPS IH) who were treated with haematopoietic stem cell transplants (HSCT). METHODS: Clinical ophthalmological assessments were performed on eight patients at the St Erik Eye Hospital, Stockholm, Sweden, from 2001-2018: The median age at diagnosis and HSCT were 12.2 (range 5.0-16.4) and 16.7 (8.0-20.4) months. The last eye examination was at a median of 13...
April 23, 2018: Acta Paediatrica
https://www.readbyqxmd.com/read/29627275/growth-impairment-in-mucopolysaccharidoses
#5
REVIEW
Melodie Melbouci, Robert W Mason, Yasuyuki Suzuki, Toshiyuki Fukao, Tadao Orii, Shunji Tomatsu
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders that affect regulation of glycosaminoglycan (GAG) processing. In MPS, the lysosomes cannot efficiently break down GAGs, and the specific GAGs accumulated depend on the type of MPS. The level of impairment of breakdown varies between patients, making this one of the many factors that lead to a range of clinical presentations even in the same type of MPS. These clinical presentations usually involve skeletal dysplasia, in which the most common feature is bone growth impairment and successive short stature...
March 16, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29506582/early-childhood-onset-of-high-grade-atrioventricular-block-in-hunter-syndrome
#6
Meghan M Chlebowski, Bryce A Heese, Lindsey E Malloy-Walton
Cardiac involvement has been reported in various mucopolysaccharidoses syndromes. Cardiac valve pathology is the most prominent cardiac manifestation of patients with these syndromes. To date, there have been no reports of early childhood onset of high-grade atrioventricular block in patients with Hunter syndrome. We present a case of a 3-year-old boy with Hunter syndrome who was found to have various degrees of atrioventricular block. This case highlights the importance of early routine cardiac screening for conduction abnormalities and close follow-up in patients with mucopolysaccharidoses syndromes...
May 2018: Cardiology in the Young
https://www.readbyqxmd.com/read/29487322/fast-sensitive-method-for-trisaccharide-biomarker-detection-in-mucopolysaccharidosis-type-1
#7
Elina Makino, Helen Klodnitsky, John Leonard, James Lillie, Troy C Lund, John Marshall, Jennifer Nietupski, Paul J Orchard, Weston P Miller, Clifford Phaneuf, Drew Tietz, Mariet L Varban, Marissa Donovan, Alexey Belenki
Certain recessively inherited diseases result from an enzyme deficiency within lysosomes. In mucopolysaccharidoses (MPS), a defect in glycosaminoglycan (GAG) degradation leads to GAG accumulation followed by progressive organ and multiple system dysfunctions. Current methods of GAG analysis used to diagnose and monitor the diseases lack sensitivity and throughput. Here we report a LC-MS method with accurate metabolite mass analysis for identifying and quantifying biomarkers for MPS type I without the need for extensive sample preparation...
February 27, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29478001/attenuated-form-of-type-ii-mucopolysaccharidoses-hunter-syndrome-pitfalls-and-potential-clues-in-diagnosis
#8
Partha Pratim Chakraborty, Shinjan Patra, Sugata Narayan Biswas, Himanshu Barman
No abstract text is available yet for this article.
February 23, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29397290/complex-care-of-individuals-with-multiple-sulfatase-deficiency-clinical-cases-and-consensus-statement
#9
Rebecca Ahrens-Nicklas, Lars Schlotawa, Andrea Ballabio, Nicola Brunetti-Pierri, Mauricio De Castro, Thomas Dierks, Florian Eichler, Can Ficicioglu, Alan Finglas, Jutta Gaertner, Brian Kirmse, Joerg Klepper, Marcus Lee, Amber Olsen, Giancarlo Parenti, Arastoo Vossough, Adeline Vanderver, Laura A Adang
Multiple sulfatase deficiency (MSD) is an ultra-rare neurodegenerative disorder that results in defective sulfatase post-translational modification. Sulfatases in the body are activated by a unique protein, formylglycine-generating enzyme (FGE) that is encoded by SUMF1. When FGE is absent or insufficient, all 17 known human sulfatases are affected, including the enzymes associated with metachromatic leukodystrophy (MLD), several mucopolysaccharidoses (MPS II, IIIA, IIID, IVA, VI), chondrodysplasia punctata, and X-linked ichthyosis...
March 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29396137/awareness-of-attenuated-mucopolysaccharidoses-in-a-pediatric-orthopedic-clinic
#10
Hsiang-Yu Lin, Chih-Kuang Chuang, Shih-Chia Liu, Shuan-Pei Lin
No abstract text is available yet for this article.
January 9, 2018: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/29334993/quality-of-life-in-mucopolysaccharidoses-construction-of-a-specific-measure-using-the-focus-group-technique
#11
M R Oliveira, I Schwartz, L S Costa, H Maia, M Ribeiro, L B Guerreiro, A Acosta, N S Rocha
OBJECTIVE: To describe the perceptions of patients, their caregivers, and their healthcare providers to the development of a new specific instrument for assessment of the quality of life (QoL) in patients with mucopolysaccharidoses (MPS) using a qualitative focus group (FG) design. FGs were held in two Brazilian states (Rio Grande do Sul and Rio de Janeiro). RESULTS: Three versions of the new instrument were developed, each for a different age group: children (age 8-12 years), adolescents (age 13-17), and adults (age ≥ 18)...
January 15, 2018: BMC Research Notes
https://www.readbyqxmd.com/read/29299872/coping-strategies-stress-and-support-needs-in-caregivers-of-children-with-mucopolysaccharidosis
#12
Amy Schadewald, Ericka Kimball, Li Ou
The mucopolysaccharidoses are a set of rare, inherited conditions that can have a catastrophic impact on those affected and their families. Because of the rarity of these disorders, little is known regarding the challenges faced by families of those affected and what coping mechanisms are commonly used. Coping is a way to manage demands that occur in one's environment or within oneself. Medical social workers historically have facilitated this process while providing support to patients who are responding to pressures of their diagnosis and the system...
January 4, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29295764/gene-therapy-for-mucopolysaccharidoses
#13
REVIEW
Kazuki Sawamoto, Hui-Hsuan Chen, Carlos J Alméciga-Díaz, Robert W Mason, Shunji Tomatsu
Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders (LSDs) caused by a deficiency of lysosomal enzymes, leading to a wide range of various clinical symptoms depending upon the type of MPS or its severity. Enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), substrate reduction therapy (SRT), and various surgical procedures are currently available for patients with MPS. However, there is no curative treatment for this group of disorders. Gene therapy should be a one-time permanent therapy, repairing the cause of enzyme deficiency...
February 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29275451/voice-alterations-in-patients-with-morquio-a-syndrome
#14
Krzysztof Szklanny, Ryszard Gubrynowicz, Anna Tylki-Szymańska
Morquio A syndrome, or mucopolysaccharidosis (MPS IV A), is an inherited lysosomal storage disorder which belongs to the group of mucopolysaccharidoses (MPSs). It is caused by N-acetylgalactosamine-6-sulfatase (GALNS) activity deficiency, which results in impaired degradation of glycosaminoglycans (GAGs), including keratan sulfate (KS) and chondroitin-6-sulfate (CS). These compounds infiltrate and disrupt the architecture of the extracellular matrix, compromising the integrity of the connective tissue. Patients with Morquio A have also been noted for exhibiting abnormalities of the larynx and vocal tract...
February 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29200150/alder-reilly-anomaly-in-the-cerebrospinal-fluid-of-a-child-with-hurler-syndrome
#15
Ashley L Lukefahr, Maria Proytcheva
Hurler syndrome is an autosomal recessive mucopolysaccharidosis characterized by intralysosomal accumulation of glycosaminoglycan fragments, with cellular accumulation of distended lysosomes resulting in interference with normal cell function. One of the peripheral blood features of mucopolysaccharidoses is the presence of numerous, dark lilac granules within lymphocytes, monocytes, and neutrophils, also known at Alder-Reilly anomaly. Here we describe intracytoplasmic granules with haloes in mononuclear cells present in the cerebrospinal fluid of a 2-year-old boy with the diagnosis of Hurler syndrome, undergoing pretransplant evaluation for an unrelated donor cord blood stem cell transplant...
January 2018: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29170079/practical-management-of-behavioral-problems-in-mucopolysaccharidoses-disorders
#16
REVIEW
Maria L Escolar, Simon A Jones, Elsa G Shapiro, Dafne D G Horovitz, Christina Lampe, Hernán Amartino
The mucopolysaccharidosis (MPS) disorders are caused by deficiencies of specific lysosomal enzymes, resulting in progressive glycosaminoglycan (GAG) accumulation in cells and tissues throughout the body. Excessive GAG storage can lead to a variety of somatic manifestations as well as primary and secondary neurological symptoms. Behavioral problems (like hyperactivity, attention difficulties, and severe frustration) and sleeping problems are typical primary neurological symptoms of MPS caused by GAG accumulation in neurons, and are frequently observed in patients with MPS I, II, III, and VII...
December 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29157190/mucopolysaccharidosis-type-vi-in-a-great-dane-caused-by-a-nonsense-mutation-in-the-arsb-gene
#17
Ping Wang, Carol Margolis, Gloria Lin, Elizabeth L Buza, Scott Quick, Karthik Raj, Rachel Han, Urs Giger
Mucopolysaccharidoses are inherited metabolic disorders that result from a deficiency of lysosomal enzymes required for the catabolism of glycosaminoglycans. Lysosomal glycosaminoglycan accumulation results in cell and organ dysfunction. This study characterized the phenotype and genotype of mucopolysaccharidosis VI in a Great Dane puppy with clinical signs of stunted growth, facial dysmorphia, skeletal deformities, corneal opacities, and increased respiratory sounds. Clinical and pathologic evaluations, urine glycosaminoglycan analyses, lysosomal enzyme assays, and ARSB sequencing were performed...
March 2018: Veterinary Pathology
https://www.readbyqxmd.com/read/29153844/treatment-of-brain-disease-in-the-mucopolysaccharidoses
#18
REVIEW
Maurizio Scarpa, Paul J Orchard, Angela Schulz, Patricia I Dickson, Mark E Haskins, Maria L Escolar, Roberto Giugliani
The mucopolysaccharidosis (MPS) disorders are a group of lysosomal storage diseases caused by lysosomal enzyme deficits that lead to glycosaminoglycan accumulation, affecting various tissues throughout the body based on the specific enzyme deficiency. These disorders are characterized by their progressive nature and a variety of somatic manifestations and neurological symptoms. There are established treatments for some MPS disorders, but these mostly alleviate somatic and non-neurological symptoms and do not cure the disease...
December 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29152458/lysosomal-storage-diseases
#19
REVIEW
Carlos R Ferreira, William A Gahl
Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include glycogen in the case of Pompe disease, glycosaminoglycans in the case of the mucopolysaccharidoses, glycoproteins in the cases of the oligosaccharidoses, and sphingolipids in the cases of Niemann-Pick disease types A and B, Gaucher disease, Tay-Sachs disease, Krabbe disease, and metachromatic leukodystrophy...
May 25, 2017: Translational Science of Rare Diseases
https://www.readbyqxmd.com/read/29128371/assessments-of-neurocognitive-and-behavioral-function-in-the-mucopolysaccharidoses
#20
REVIEW
Elsa G Shapiro, Maria L Escolar, Kathleen A Delaney, John J Mitchell
The mucopolysaccharidoses (MPS) are a group of rare, inherited lysosomal storage disorders in which accumulation of glycosaminoglycans (GAGs) leads to progressive tissue and organ dysfunction. In addition to a variety of somatic signs and symptoms, patients with rapidly progressing MPS I (Hurler), II, III, and VII can present with significant neurological manifestations, including impaired cognitive abilities, difficulties in language and speech, behavioral abnormalities, sleep problems, and/or seizures. Neurological symptoms have a substantial impact on the quality of life of MPS patients and their families...
December 2017: Molecular Genetics and Metabolism
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