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Hunter syndrome

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https://www.readbyqxmd.com/read/28820625/multimodal-image-analysis-of-the-retina-in-hunter-syndrome-mucopolysaccharidosis-type-ii-case-report
#1
Isadora Darriba Macedo Salvucci, Simone Finzi, Maria Kiyoko Oyamada, Chong Ae Kim, Sérgio Luis Gianotti Pimentel
INTRODUCTION: We report a case of retinal and posterior ocular findings in a 33-year-old man diagnosed with Hunter syndrome (Mucopolysaccharidosis type II) in a multimodal imaging way. CASE PRESENTATION: Our patient was complaining of blurred night vision for the past 3 years. He had not received any systemic treatment for Hunter syndrome. Vision acuity was 20/20 in both eyes and corneas were clear. Fundus examination revealed bilateral crowded and hyperemic optic nerve heads (elevated in the ocular ultrasound) and areas of subretinal hypopigmentation...
August 18, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28796019/incidence-of-serotonin-syndrome-with-combined-use-of-linezolid-and-serotonin-reuptake-inhibitors-compared-with-linezolid-monotherapy
#2
Diana C Karkow, Jill F Kauer, Erika J Ernst
PURPOSE: Linezolid is a monoamine oxidase inhibitor that may increase the risk of serotonin syndrome in patients receiving combination selective serotonin reuptake inhibitors (SSRIs) or serotonin norepinephrine reuptake inhibitors (SNRIs). The objective of this study was to compare the incidence of serotonin syndrome when linezolid was administered alone and in combination with SSRIs or SNRIs. METHODS: This was a retrospective case-control study of adult inpatients admitted to the University of Iowa Hospitals and Clinics who received linezolid between January 2010 and December 2014...
August 8, 2017: Journal of Clinical Psychopharmacology
https://www.readbyqxmd.com/read/28734938/hepatitis-e-virus-infection-and-acute-non-traumatic-neurological-injury-a-prospective-multicentre-study
#3
Harry R Dalton, Jeroen J J van Eijk, Pascal Cintas, Richie G Madden, Catherine Jones, Glynn W Webb, Benjamin Norton, Julie Pique, Suzanne Lutgens, Nikki Devooght-Johnson, Kathy Woolson, John Baker, Maria Saunders, Liz Househam, James Griffiths, Florence Abravanel, Jacques Izopet, Nassim Kamar, Nens van Alfen, Baziel G M van Engelen, Jeremy G Hunter, Annemiek A van der Eijk, Richard P Bendall, Brendan N Mclean, Bart C Jacobs
BACKGROUND AND AIMS: HEV has been associated with a number of neurological syndromes, but causality has not yet been established. AIM: to explore the relationship between HEV and neurological illness by prospective HEV-testing of patients presenting with acute non-traumatic neurological injury. METHODS: 464 consecutive patients presenting to hospital with acute non-traumatic neurological illnesses were tested for HEV by serology and PCR from 4 centres in the UK, France and the Netherlands...
July 19, 2017: Journal of Hepatology
https://www.readbyqxmd.com/read/28727755/no-abatement-of-steroid-injections-for-tennis-elbow-in-australian-general-practice-a-15-year-observational-study-with-random-general-practitioner-sampling
#4
Bill Vicenzino, Helena Britt, Allan J Pollack, Michelle Hall, Kim L Bennell, David J Hunter
OBJECTIVE: Evaluate general practitioner (GP) management of tennis elbow (TE) in Australia. METHODS: Data about the management of TE by GPs from 2000 to 2015 were extracted from the Bettering the Evaluation of Care of Health program database. Patient and GP characteristics and encounter management data were classified by the International Classification of Primary Care, version 2, and reported using descriptive statistics with point estimates and 95% confidence intervals...
2017: PloS One
https://www.readbyqxmd.com/read/28714533/multicenter-retrospective-study-of-neurostimulation-with-exit-of-therapy-by-explant
#5
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
#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/28649514/early-hematopoietic-stem-cell-transplantation-in-a-patient-with-severe-mucopolysaccharidosis-ii-a-7%C3%A2-years-follow-up
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
Nilay Chatterjee, Josemine Davis, Arimanickam Ganesamoorthi
No abstract text is available yet for this article.
April 2017: Asian Journal of Neurosurgery
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