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https://www.readbyqxmd.com/read/29774506/therapeutic-potential-of-mesenchymal-stem-cell-derived-exosomes-in-the-treatment-of-eye-diseases
#1
C Randall Harrell, Bojana Simovic Markovic, Crissy Fellabaum, Aleksandar Arsenijevic, Valentin Djonov, Nebojsa Arsenijevic, Vladislav Volarevic
Mesenchymal stem cells (MSCs) were, due to their immunomodulatory and pro-angiogenic characteristics, extensively explored as new therapeutic agents in cell-based therapy of uveitis, glaucoma, retinal and ocular surface diseases.Since it was recently revealed that exosomes play an important role in biological functions of MSCs, herewith we summarized current knowledge about the morphology, structure, phenotype and functional characteristics of MSC-derived exosomes emphasizing their therapeutic potential in the treatment of eye diseases...
May 18, 2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29762123/identification-of-a-critical-sulfation-in-chondroitin-that-inhibits-axonal-regeneration
#2
Craig S Pearson, Caitlin P Mencio, Amanda C Barber, Keith R Martin, Herbert M Geller
The failure of mammalian CNS neurons to regenerate their axons derives from a combination of intrinsic deficits and extrinsic factors. Following injury, chondroitin sulfate proteoglycans (CSPGs) within the glial scar inhibit axonal regeneration, an action mediated by the sulfated glycosaminoglycan (GAG) chains of CSPGs, especially those with 4-sulfated (4S) sugars. Arylsulfatase B (ARSB) selectively cleaves 4S groups from the non-reducing ends of GAG chains without disrupting other, growth-permissive motifs...
May 15, 2018: ELife
https://www.readbyqxmd.com/read/29754856/three-dimensional-dental-and-craniofacial-manifestations-in-patients-with-late-diagnosis-of-mucopolysaccharidosis-type-ii-report-of-2-cases
#3
Rafaela de Oliveira Torres, Andréa Vaz Braga Pintor, Fábio Ribeiro Guedes, Lucia Helena Soares Cevidanes, Liana Bastos Freitas-Fernandes, Antônio Carlos de Oliveira Ruellas, Ivete Pomarico Ribeiro de Souza
The objective of this study was to report the clinical evaluation results and 3-dimensional (3-D) dental and craniofacial characteristics observed in 2 male patients with mucopolysaccharidosis type II. The patients were evaluated clinically (soft tissue evaluation, evaluation of occlusion, periodontal and dental examinations) and by using craniofacial computed tomography, with evaluation of 3-D images in ITK-Snap v. 2.2 (Penn Image Computing and Science Laboratory, Philadelphia, PA; http://www.itksnap.org/) and 3-D Slicer (http://www...
April 16, 2018: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/29752520/mucopolysaccharidoses-overview-of-neuroimaging-manifestations
#4
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/29751845/beneath-the-floor-re-analysis-of-neurodevelopmental-outcomes-in-untreated-hurler-syndrome
#5
Elsa G Shapiro, Chester B Whitley, Julie B Eisengart
BACKGROUND: Hurler syndrome (MPS IH), the severe, neurodegenerative form of type one mucopolysaccharidosis, is associated with rapid neurocognitive decline during toddlerhood and multi-system dysfunction. It is now standardly treated with hematopoietic cell transplantation (HCT), which halts accumulating disease pathology and prevents early death. While norm-based data on developmental functioning in untreated children have previously demonstrated neurocognitive decline, advances in methodology for understanding the cognitive functioning of children with neurodegenerative diseases have highlighted that the previous choice of scores to report results was not ideal...
May 11, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29741470/markers-of-cognitive-function-in-individuals-with-metabolic-disease-morquio-syndrome-and-tyrosinemia-type-iii
#6
James Blundell, Steven Frisson, Anupam Chakrapani, Shauna Kearney, Suresh Vijay, Anita MacDonald, Paul Gissen, Chris Hendriksz, Andrew Olson
We characterized cognitive function in two metabolic diseases. MPS-IVa (mucopolysaccharidosis IVa, Morquio) and tyrosinemia type III individuals were assessed using tasks of attention, language and oculomotor function. MPS-IVa individuals were slower in visual search, but the display size effects were normal, and slowing was not due to long reaction times (ruling out slow item processing or distraction). Maintaining gaze in an oculomotor task was difficult. Results implicated sustained attention and task initiation or response processing...
May 2018: Cognitive Neuropsychology
https://www.readbyqxmd.com/read/29736354/morquio-syndrome-a-case-report
#7
Kamleshun Ramphul, Stephanie G Mejias, Yogeshwaree Ramphul-Sicharam
Mucopolysaccharidosis type IV (MPS IV), also known as Morquio syndrome, is a rare autosomal recessive lysosomal storage disease. The main features include skeletal defects and possible cardiopulmonary complications. The cost of diagnosing and treating this condition is high, and treatment is not easily available everywhere. We present a case of Morquio syndrome seen in a seven-year-old male from Iraq with multiple skeletal deformities.
March 5, 2018: Curēus
https://www.readbyqxmd.com/read/29735373/natural-history-of-echocardiographic-abnormalities-in-mucopolysaccharidosis-iii
#8
Carolyn M Wilhelm, Kristen V Truxal, Kim L McBride, John P Kovalchin, Kevin M Flanigan
BACKGROUND: Mucopolysaccharidosis (MPS) type III, Sanfilippo Syndrome, is an autosomal recessive lysosomal storage disorder. MPS I and II patients often develop cardiac involvement leading to early mortality, however there are limited data in MPS III. The objective of this study is to describe cardiac abnormalities in a large group of MPS III patients followed in a longitudinal natural history study designed to determine outcome measures for gene transfer trials. METHODS: A single center study of MPS III patients who were enrolled in the Nationwide Children's Hospital natural history study in 2014...
April 27, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29731656/determination-of-genotypic-and-clinical-characteristics-of-colombian-patients-with-mucopolysaccharidosis-iva
#9
Sandra M Tapiero-Rodriguez, Johanna C Acosta Guio, Gloria Liliana Porras-Hurtado, Natalia García, Martha Solano, Harry Pachajoa, Harvy M Velasco
Background: As mucopolysaccharidosis IVA (MPS IVA) is the most frequent MPS in Colombia, this paper aims to describe its clinical and mutational characteristics in 32 diagnosed patients included in this study. Methods: Genotyping was completed by amplification and Sanger sequencing of the GALNS gene. The SWISS-model platform was used for bioinformatic analysis, and mutant proteins were generated by homology from the wild-type GALNS code 4FDI template from the Protein Data Bank (PDB) database...
2018: Application of Clinical Genetics
https://www.readbyqxmd.com/read/29722897/mucopolysaccharidosis-vi-and-effects-on-growth-of-the-apical-bases-a-case-report
#10
Moema Ferreira Dos Reis, Lucas Rodrigues Pinheiro, Maria das Graças Rodrigues Pinheiro, Haroldo Amorim de Almeida, Patrícia do Socorro Queiroz Feio, Sâmia Cordovil de Almeida, Isabel Cristina Neves de Souza, Roberto Giugliani, Ida Vanessa Doederlein Schwartz, Rosely Maria Dos Santos Cavaleiro, João de Jesus Viana Pinheiro, Luiz Carlos Santana da Silva
OBJECTIVE: Mucopolysaccharidosis (MPS) VI is a rare disorder caused by an autosomal recessive mutation in the short arm of chromosome 5 (5q12-13) leading to an N-acetylgalactosamine-sulfatase lysosomal enzyme deficiency and numerous systemic clinical changes. The oral and maxillofacial complex may exhibit tooth eruption anomalies, macroglossia, gingival hypertrophy, mouth breathing, increased lower facial height, open bite, retrognathia, and progressive TMJ arthrosis. This report describes craniofacial growth changes in two MPS VI patients, sisters and daughters of outbred parents, who were longitudinally monitored from 11 to 15 years of age...
May 3, 2018: Special Care in Dentistry
https://www.readbyqxmd.com/read/29718288/the-pathogenesis-of-lysosomal-storage-disorders-beyond-the-engorgement-of-lysosomes-to-abnormal-development-and-neuroinflammation
#11
Maria Teresa Fiorenza, Enrico Moro, Robert P Erickson
There is growing evidence that the complex clinical manifestations of lysosomal storage diseases (LSDs) are not fully explained by the engorgement of the endosomal-autophagic-lysosomal system. In this review, we explore current knowledge of common pathogenetic mechanisms responsible for the early onset of tissue abnormalities of two LSDs, Mucopolysaccharidosis type II (MPSII) and Niemann-Pick type C (NPC) diseases. In particular, perturbations of the homeostasis of glycosaminoglycans (GAGs) and cholesterol (Chol) in MPSII and NPC diseases, respectively, affect key biological processes, including morphogen signaling...
April 28, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29705972/p-tau-and-subunit-c-mitochondrial-atp-synthase-accumulation-in-the-central-nervous-system-of-a-woman-with-hurler-scheie-syndrome-treated-with-enzyme-replacement-therapy-for-12-years
#12
Hiroshi Kobayashi, Masamichi Ariga, Yohei Sato, Masako Fujiwara, Nei Fukasawa, Takahiro Fukuda, Hiroyuki Takahashi, Masahiro Ikegami, Motomichi Kosuga, Torayuki Okuyama, Yoshikatsu Eto, Hiroyuki Ida
We report an autopsy case of a woman with mucopolysaccharidosis type I (MPS I) Hurler-Scheie syndrome who was treated with enzyme replacement therapy (ERT) for 12 years. This was the first case of MPS I treated with ERT in Japan. Pathological analysis showed no glycosaminoglycan accumulation in the liver and spleen as a result of long-term ERT, although severe aortic stenosis, diffuse intimal hyperplasia of the coronary artery, and fibrous hypertrophy of the endocardium were observed. Additionally, we detected subunit c mitochondrial ATP synthase (SCMAS) accumulation and mild tauopathy (hyperphosphorylated tau or p-tau, both 3-repeat and 4-repeat tau accumulation) in the same area of the cerebral limbic system and central gray matter of the mid brain and pons...
April 29, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29704188/mucolipidosis-type-iii-a-series-of-adult-patients
#13
Esmee Oussoren, David van Eerd, Elaine Murphy, Robin Lachmann, Jan C van der Meijden, Lies H Hoefsloot, Rob Verdijk, George J G Ruijter, Mario Maas, Carla E M Hollak, Janneke G Langendonk, Ans T van der Ploeg, Mirjam Langeveld
BACKGROUND: Mucolipidosis type III α/β or γ (MLIII) are rare autosomal recessive diseases, in which reduced activity of the enzyme UDP-N-acetyl glucosamine-1-phosphotransferase (GlcNAc-PTase) leads to intra-lysosomal accumulation of different substrates. Publications on the natural history of MLIII, especially the milder forms, are scarce. This study provides a detailed description of the disease characteristics and its natural course in adult patients with MLIII. METHODS: In this retrospective chart study, the clinical, biochemical and molecular findings in adult patients with a confirmed diagnosis of MLIII from three treatment centres were collected...
April 27, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29683519/children-with-mucopolysaccharidosis-risk-progressive-visual-dysfunction-despite-haematopoietic-stem-cell-transplants
#14
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/29672880/enamel-renal-syndrome-case-report
#15
Luiz Henrique Soares Torres, Sérgio Lins de-Azevedo-Vaz, Danielle Resende Camisasca Barroso, Daniela Nascimento Silva, Tânia Regina Grão Velloso, Liliana Aparecida Pimenta de Barros
AIMS: to describe a case in which dental changes were observed and investigation proceeded to consider Enamel-Renal-Syndrome (ERS), a rare disorder that associates amelogenesis imperfecta with nephrocalcinosis. CASE REPORT: an 11-year-old male patient upon intraoral examination revealed generalized gingival hyperplasia, a few teeth were absent clinically and the remaining ones were yellowish-brown in color. The enamel alterations were suggesting of amelogenesis imperfecta...
April 19, 2018: Special Care in Dentistry
https://www.readbyqxmd.com/read/29671225/effectiveness-of-early-hematopoietic-stem-cell-transplantation-in-preventing-neurocognitive-decline-in-mucopolysaccharidosis-type-ii-a-case-series
#16
A Selvanathan, C Ellaway, C Wilson, P Owens, P J Shaw, K Bhattacharya
The early progressive form of the X-linked disorder, Hunter syndrome or mucopolysaccharidosis type II (MPS II) (OMIM #309900), is characterized by cognitive decline, and pulmonary and cardiac complications that often cause death before 20 years of age. Deficiency of the lysosomal enzyme, iduronate-2-sulfatase (EC 3.1.6.13) results in deposition of the glycosaminoglycans, dermatan, and heparan sulfate in various tissues. In recent years, enzyme replacement therapy (ERT) has become the mainstay of treatment, but is expensive and ineffective in arresting cognitive decline...
April 19, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29661560/observational-prospective-natural-history-of-patients-with-sanfilippo-syndrome-type-b
#17
Chester B Whitley, Maureen Cleary, Karl Eugen Mengel, Paul Harmatz, Elsa Shapiro, Igor Nestrasil, Patrick Haslett, David Whiteman, David Alexanderian
OBJECTIVE: To evaluate the natural course of disease progression in patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB), identify potential end points for future therapy trials, and characterize biomarkers related to the disease. STUDY DESIGN: A prospective, multicenter study was conducted. Baseline, 6-month, and 12-month assessments included neurodevelopmental status (Bayley Scales of Infant Development, Third edition), adaptive status (Vineland Adaptive Behavior Scales, Second Edition), volumetric brain magnetic resonance imaging, cerebrospinal fluid heparan sulfate, and urine glycosaminoglycan (GAG) measurements...
April 13, 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29649608/standalone-cranio-cervical-decompression-is-feasible-in-children-with-mucopolysaccharidosis-type-i-iva-and-vi
#18
Harald Krenzlin, Ta-Chih Tan, Christina Lampe, Christian Lampe, Markus Knuf, Peter Horn, Manfred Schwarz
BACKGROUND CONTEXT: In patients with Mucopolysaccharidosis (MPS), glycosaminoglycans deposits in the dura mater and supporting ligaments cause spinal cord compression and consecutive myelopathy, predominantly of the cranio-cervical junction. Disease characteristics of cranio-cervical stenosis (CCS) in MPS patients differ profoundly from other hereditary and degenerative forms. Due to high peri-procedural morbidity and mortality, MPS patients pose a substantial challenge to the unexperienced medical care provider...
April 9, 2018: Spine Journal: Official Journal of the North American Spine Society
https://www.readbyqxmd.com/read/29649527/recommendations-for-evaluation-and-management-of-pain-in-patients-with-mucopolysaccharidosis-in-latin-america
#19
J M Politei, G Gordillo-González, N Guelbert, C F M Souza, C M Lourenço, M L Solano, M M Junqueira, T S P C Magalhães, A M Martins
The mucopolysaccharidosis (MPS) constitute a heterogeneous group of rare genetic disorders caused by enzymatic deficiencies that lead to the accumulation of glycosaminoglycans (GAGs). Several types of MPS are described, historically numbered from I to IX. Clinical observations strongly suggest the presence of chronic pain in patients with all types of MPS. There are few data in the literature on the evaluation and management of pain in these patients, a fact which can compromise the quality of life even more...
April 9, 2018: Journal of Pain and Symptom Management
https://www.readbyqxmd.com/read/29648648/fgf-signaling-deregulation-is-associated-with-early-developmental-skeletal-defects-in-animal-models-for-mucopolysaccharidosis-type-ii-mpsii
#20
Stefania Bellesso, Marika Salvalaio, Susanna Lualdi, Elisa Tognon, Roberto Costa, Paola Braghetta, Chiara Giraudo, Roberto Stramare, Laura Rigon, Mirella Filocamo, Rosella Tomanin, Enrico Moro
Skeletal abnormalities represent a major clinical burden in patients affected by the lysosomal storage disorder mucopolysaccharidosis type II (MPSII, OMIM #309900). While extensive research has emphasized the detrimental role of stored glycosaminoglycans (GAGs) in the bone marrow (BM), a limited understanding of primary cellular mechanisms underlying bone defects in MPSII has hampered the development of bone-targeted therapeutic strategies beyond enzyme replacement therapy (ERT). We here investigated the involvement of key signaling pathways related to the loss of iduronate-2-sulfatase activity in two different MPSII animal models, D...
April 10, 2018: Human Molecular Genetics
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