keyword
MENU ▼
Read by QxMD icon Read
search

Hunter syndrom

keyword
https://www.readbyqxmd.com/read/28714533/multicenter-retrospective-study-of-neurostimulation-with-exit-of-therapy-by-explant
#1
Jason E Pope, Timothy R Deer, Steven Falowski, David Provenzano, Michael Hanes, Salim M Hayek, Jacob Amrani, Jonathan Carlson, Ioannis Skaribas, Kris Parchuri, W Porter McRoberts, Robert Bolash, Nameer Haider, Maged Hamza, Kasra Amirdelfan, Sean Graham, Corey Hunter, Eric Lee, Sean Li, Michael Yang, Lucas Campos, Shrif Costandi, Robert Levy, Nagy Mekhail
INTRODUCTION: Spinal cord stimulation (SCS) devices are cost effective and improve function as well as quality of life. Despite the demonstrated benefits of SCS, some patients have the device explanted. We are interested in exploring the patient characteristics of those explanted. METHODS: This is a retrospective chart review of neurostimulation patients who underwent explantation at 18 centers across the United States within the previous five years. RESULTS: Data from 352 patients were collected and compiled...
July 17, 2017: Neuromodulation: Journal of the International Neuromodulation Society
https://www.readbyqxmd.com/read/28660346/adeno-associated-viral-gene-therapy-for-mucopolysaccharidoses-exhibiting-neurodegeneration
#2
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/28649514/early-hematopoietic-stem-cell-transplantation-in-a-patient-with-severe-mucopolysaccharidosis-ii-a-7%C3%A2-years-follow-up
#3
Anneliese L Barth, Tatiana S P C de Magalhães, Ana Beatriz R Reis, Maria Lucia de Oliveira, Fernanda B Scalco, Nicolette C Cavalcanti, Daniel S E Silva, Danielle A Torres, Alessandra A P Costa, Carmem Bonfim, Roberto Giugliani, Juan C Llerena, Dafne D G Horovitz
Mucopolysaccharidosis type II (MPS II - Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2 sulfatase (I2S), leading to the accumulation of the glycosaminoglycans, affecting multiple organs and systems. Enzyme replacement therapy does not cross the blood brain barrier, limiting results in neurological forms of the disease. Another option of treatment for severe MPS, hematopoietic stem cell transplantation (HSCT) has become the treatment of choice for the severe form of MPS type I, since it can preserve neurocognition when performed early in the course of the disease...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28645960/efficacy-of-adding-a-physiotherapy-rehabilitation-programme-to-arthroscopic-management-of-femoroacetabular-impingement-syndrome-a-randomised-controlled-trial-fair
#4
Kim L Bennell, Libby Spiers, Amir Takla, John O'Donnell, Jessica Kasza, David J Hunter, Rana S Hinman
OBJECTIVES: Although several rehabilitation programmes following hip arthroscopy for femoracetabular impingement (FAI) syndrome have been described, there are no clinical trials evaluating whether formal physiotherapy-prescribed rehabilitation improves recovery compared with self-directed rehabilitation. The objective of this study was to evaluate the efficacy of adding a physiotherapist-prescribed rehabilitation programme to arthroscopic surgery for FAI syndrome. DESIGN: Randomised controlled trial...
June 23, 2017: BMJ Open
https://www.readbyqxmd.com/read/28640238/treatment-of-mucopolysaccharidosis-type-ii-hunter-syndrome-results-from-a-systematic-evidence-review
#5
REVIEW
Linda A Bradley, Hamish R M Haddow, Glenn E Palomaki
PurposeA pilot systematic evidence review to establish methodology utility in rare genetic diseases, support clinical recommendations, and identify important knowledge gaps.MethodsBroad-based published/gray-literature searches through December 2015 for studies of males with confirmed mucopolysaccharidosis type II (any age, phenotype, genotype, family history) treated with enzyme replacement therapy or hematopoietic stem cell transplantation. Preset inclusion criteria employed for abstract and full document selection, and standardized methods for data extraction and assessment of quality and strength of evidence...
June 22, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28621025/dorsal-root-ganglion-stimulation-as-a-salvage-treatment-for-complex-regional-pain-syndrome-refractory-to-dorsal-column-spinal-cord-stimulation-a-case-series
#6
Ajax Yang, Corey W Hunter
OBJECTIVE: The efficacy of traditional spinal cord stimulation (t-SCS) tends to decay over time in patients with complex regional pain syndrome (CRPS). While it has been shown that dorsal root ganglion (DRG) stimulation is extremely effective in t-SCS-naïve patients with CRPS, its efficacy in patients who had previously failed t-SCS is unknown. Given that DRG-SCS and t-SCS target different spinal pathways, a failure with t-SCS should not automatically preclude a patient from attempting DRG-SCS...
June 16, 2017: Neuromodulation: Journal of the International Neuromodulation Society
https://www.readbyqxmd.com/read/28610913/correlation-between-urinary-gag-and-anti-idursulfase-ert-neutralizing-antibodies-during-treatment-with-nicit-immune-tolerance-regimen-a-case-report
#7
Sarah Kim, Chester B Whitley, Jeanine R Jarnes Utz
INTRODUCTION: Antibodies to intravenous idursulfase enzyme replacement therapy (ERT) for patients with Hunter syndrome (mucopolysaccharidosis type II, MPS II) can have a harmful clinical impact, including both increasing risk of infusion reactions and inhibiting therapeutic activity. Thus, failure to monitor anti-idursulfase antibodies and neutralizing antibodies, and delays in reporting results, may postpone critical clinical decisions. HYPOTHESIS: Urinary glycosaminoglycan (GAG) levels may be used as a biomarker for anti-idursulfase antibodies and neutralizing antibodies to improve timeliness in monitoring and managing ERT...
June 3, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28593992/insights-into-hunter-syndrome-from-the-structure-of-iduronate-2-sulfatase
#8
Mykhaylo Demydchuk, Chris H Hill, Aiwu Zhou, Gábor Bunkóczi, Penelope E Stein, Denis Marchesan, Janet E Deane, Randy J Read
Hunter syndrome is a rare but devastating childhood disease caused by mutations in the IDS gene encoding iduronate-2-sulfatase, a crucial enzyme in the lysosomal degradation pathway of dermatan sulfate and heparan sulfate. These complex glycosaminoglycans have important roles in cell adhesion, growth, proliferation and repair, and their degradation and recycling in the lysosome is essential for cellular maintenance. A variety of disease-causing mutations have been identified throughout the IDS gene. However, understanding the molecular basis of the disease has been impaired by the lack of structural data...
June 8, 2017: Nature Communications
https://www.readbyqxmd.com/read/28588666/molecular-analysis-of-the-novel-ids-allele-in-a-thai-family-with-mucopolysaccharidosis-type-ii-the-c-928c-t-p-gln310-transcript-is-sensitive-to-nonsense-mediated-mrna-decay
#9
Lukana Ngiwsara, Kitiwan Rojnueangnit, Duangrurdee Wattanasirichaigoon, Thipwimol Tim-Aroon, Phannee Sawangareetrakul, Voraratt Champattanachai, James R Ketudat-Cairns, Jisnuson Svasti
Hunter syndrome (or mucopolysaccharidosis type II, MPS II) is an X-linked recessive disorder induced by a deficiency of the iduronate 2-sulfatase (IDS) enzyme, resulting in the accumulation of glycosaminoglycan substrates, heparan sulfate and dermatan sulfate, in the lysosomes. The progressive accumulation of undegraded metabolites induces cell and tissue dysfunction, leading to multi-systemic pathology. The heterogeneity of clinical phenotypes, ranging from mild to severe forms, results from different mutations in the IDS gene...
June 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28566927/hunter-syndrome-with-extensive-mongolian-spots
#10
Hyang-Suk You, Woo-Il Kim, Jeong-Min Kim, Gun-Wook Kim, Hoon-Soo Kim, Byung-Soo Kim, Moon-Bum Kim, Hyun-Chang Ko
No abstract text is available yet for this article.
June 2017: Annals of Dermatology
https://www.readbyqxmd.com/read/28551045/methylene-blue-for-vasoplegic-syndrome-after-cardiac-operation-early-administration-improves-survival
#11
J Hunter Mehaffey, Lily E Johnston, Robert B Hawkins, Eric J Charles, Leora Yarboro, John A Kern, Gorav Ailawadi, Irving L Kron, Ravi K Ghanta
BACKGROUND: Vasoplegic syndrome, defined by hypotension despite normal or increased cardiac output, is associated with high mortality rate after cardiopulmonary bypass. Methylene blue (MB) is reported to ameliorate vasoplegic syndrome through the nitric oxide pathway. We hypothesized that early administration of MB would improve outcomes in patients with vasoplegic syndrome after cardiopulmonary bypass. METHODS: All patients that underwent cardiopulmonary bypass at our institution (Jan 1, 2011 to Jun 30, 2016) were identified through our Society of Thoracic Surgery database...
July 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28540187/case-report-of-treatment-experience-with-idursulfase-beta-hunterase-in-an-adolescent-patient-with-mps-ii
#12
Lock-Hock Ngu, Winnie Ong Peitee, Huey Yin Leong, Hui Bein Chew
Mucopolysaccharidosis (MPS) II or Hunter syndrome is a chronic, progressive, multi-systemic illness associated with significant morbidity and early mortality. Available evidence in Asian populations shows that Hunter syndrome has a mean age of onset of 2 to 5 years and a life expectancy of 13 years in more severely affected individuals, with respiratory failure reported as the leading cause of death. Enzyme replacement therapy (ERT) with idursulfase (Elaprase, Shire Pharmaceuticals) and idursulfase beta (Hunterase, Green Cross Corp) are the only approved treatment for patients with MPS II...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28528923/provoked-dizziness-from-bow-hunter-s-syndrome
#13
Paul A Bergl
No abstract text is available yet for this article.
May 18, 2017: American Journal of Medicine
https://www.readbyqxmd.com/read/28516041/birth-weight-in-patients-with-mucopolysaccharidosis-type-ii-data-from-the-hunter-outcome-survey-hos
#14
Olaf Bodamer, Maurizio Scarpa, Christina Hung, Tom Pulles, Roberto Giugliani
There is a need to identify early disease markers to facilitate diagnosis of mucopolysaccharidosis type II (MPS II; Hunter syndrome). Mean birth weight and its association with disease severity was investigated in 609 patients enrolled in the Hunter Outcome Survey (HOS). This analysis indicated that birth weight is not an early marker of MPS II and is not associated with disease severity. It remains important to investigate the utility of other factors for early/pre-symptomatic diagnosis.
June 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28513549/brain-rna-seq-profiling-of-the-mucopolysaccharidosis-type-ii-mouse-model
#15
Marika Salvalaio, Francesca D'Avanzo, Laura Rigon, Alessandra Zanetti, Michela D'Angelo, Giorgio Valle, Maurizio Scarpa, Rosella Tomanin
Lysosomal storage disorders (LSDs) are a group of about 50 genetic metabolic disorders, mainly affecting children, sharing the inability to degrade specific endolysosomal substrates. This results in failure of cellular functions in many organs, including brain that in most patients may go through progressive neurodegeneration. In this study, we analyzed the brain of the mouse model for Hunter syndrome, a LSD mostly presenting with neurological involvement. Whole transcriptome analysis of the cerebral cortex and midbrain/diencephalon/hippocampus areas was performed through RNA-seq...
May 17, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28484569/hunter-s-syndrome-and-the-airway-implications-for-the-anesthesiologist-a-correspondence
#16
Nilay Chatterjee, Josemine Davis, Arimanickam Ganesamoorthi
No abstract text is available yet for this article.
April 2017: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/28478695/prevention-of-neurocognitive-deficiency-in-mucopolysaccharidosis-type-ii-mice-by-central-nervous-system-directed-aav9-mediated-iduronate-sulfatase-gene-transfer
#17
Kanut Laoharawee, Kelly M Podetz-Pedersen, Tam T Nguyen, Laura B Evenstar, Kelley F Kitto, Zhenhong Nan, Carolyn A Fairbanks, Walter C Low, Karen F Kozarsky, R Scott McIvor
Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare X-linked recessive lysosomal disorder caused by defective iduronate-2-sulfatase (IDS), resulting in accumulation of heparan sulfate and dermatan sulfate glycosaminoglycans (GAGs). Enzyme replacement is the only Food and Drug Administration-approved therapy available for MPS II, but it is expensive and does not improve neurologic outcomes in MPS II patients. This study evaluated the effectiveness of adeno-associated virus (AAV) vector encoding human IDS delivered intracerebroventricularly in a murine model of MPS II...
May 5, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28477385/in-vitro-recapitulation-of-the-site-specific-editing-to-wild-type-of-mutant-ids-mrna-transcripts-and-the-characterization-of-ids-protein-translated-from-the-edited-mrnas
#18
Susanna Lualdi, Genny Del Zotto, Olga Zegarra-Moran, Nicoletta Pedemonte, Fabio Corsolini, Maurizio Bruschi, Valeria Tomati, Giulia Amico, Giovanni Candiano, Andrea Dardis, David N Cooper, Mirella Filocamo
The transfer of genomic information into the primary RNA sequence can be altered by RNA editing. We have previously shown that genomic variants can be RNA-edited to wild-type. The presence of distinct "edited" iduronate 2-sulfatase (IDS) mRNA transcripts ex vivo evidenced the correction of a nonsense and frameshift variant, respectively, in three unrelated Hunter syndrome patients. This phenomenon was confirmed in various patient samples by a variety of techniques, and was quantified by single-nucleotide primer extension...
July 2017: Human Mutation
https://www.readbyqxmd.com/read/28465300/randomized-trial-comparing-the-effects-of-ticagrelor-versus-clopidogrel-on-myocardial-perfusion-in-patients-with-coronary-artery-disease
#19
Matthieu Pelletier-Galarneau, Chad R R N Hunter, Kathryn J Ascah, Rob S B Beanlands, Girish Dwivedi, Robert A deKemp, Benjamin J W Chow, Terrence D Ruddy
BACKGROUND: Ticagrelor is a P2Y12 receptor inhibitor used in acute coronary syndromes to reduce platelet activity and to decrease thrombus formation. Ticagrelor is associated with a reduction in mortality incremental to that observed with clopidogrel, potentially related to its non-antiplatelet effects. Evidence from animal models indicates that ticagrelor potentiates adenosine-induced myocardial blood flow (MBF) increases. We investigated MBF at rest and during adenosine-induced hyperemia in patients with stable coronary artery disease treated with ticagrelor versus clopidogrel...
May 2, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28464912/ten-years-of-the-hunter-outcome-survey-hos-insights-achievements-and-lessons-learned-from-a-global-patient-registry
#20
REVIEW
Joseph Muenzer, Simon A Jones, Anna Tylki-Szymańska, Paul Harmatz, Nancy J Mendelsohn, Nathalie Guffon, Roberto Giugliani, Barbara K Burton, Maurizio Scarpa, Michael Beck, Yvonne Jangelind, Elizabeth Hernberg-Stahl, Maria Paabøl Larsen, Tom Pulles, David A H Whiteman
Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is a rare lysosomal storage disease with progressive multisystem manifestations caused by deficient activity of the enzyme iduronate-2-sulfatase. Disease-specific treatment is available in the form of enzyme replacement therapy with intravenous idursulfase (Elaprase®, Shire). Since 2005, the Hunter Outcome Survey (HOS) has collected real-world, long-term data on the safety and effectiveness of this therapy, as well as the natural history of MPS II...
May 2, 2017: Orphanet Journal of Rare Diseases
keyword
keyword
66543
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"