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Hunter syndrome

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https://www.readbyqxmd.com/read/28540187/case-report-of-treatment-experience-with-idursulfase-beta-hunterase-in-an-adolescent-patient-with-mps-ii
#1
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
#2
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
#3
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
#4
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
#5
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-cns-directed-aav9-mediated-iduronate-sulfatase-gene-transfer
#6
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 FDA-approved therapy available for MPS II, but it is expensive and does not improve neurologic outcomes in MPS II patients. We conducted this study to evaluate the effectiveness of adeno-associated virus (AAV) vector encoding human IDS delivered intracerebroventricularly in a murine model of MPS II...
May 6, 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
#7
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...
May 6, 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
#8
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
#9
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
https://www.readbyqxmd.com/read/28458178/synchrotron-x-ray-diffraction-to-understand-crystallographic-texture-of-enamel-affected-by-hunter-syndrome
#10
Malik Arshman Khan, Owen Addison, Alison James, Christian J Hendriksz, Maisoon Al-Jawad
OBJECTIVE: To determine whether Hunter syndrome (MPS II) affects the crystallographic texture (preferred orientation) of enamel. DESIGN: Synchrotron X-ray diffraction, being a state of the art technique, has been used to determine the enamel crystallite orientation in enamel affected by Hunter syndrome (MPS II). The incisal, lingual and cervical regions of the MPS II affected tooth were observed and compared to healthy tooth. RESULTS: It was observed that there is a loss of organization of crystallites in deciduous incisal enamel affected by Hunter syndrome (MPS II) as compared to healthy deciduous enamel tissue...
April 20, 2017: Archives of Oral Biology
https://www.readbyqxmd.com/read/28456352/bow-hunter-s-syndrome-due-to-left-c7-schwannoma-in-a-patient-with-bilateral-absence-of-the-posterior-inferior-cerebellar-artery
#11
Masanao Mori, Hitoshi Yamahata, Satoshi Yamaguchi, Tadaaki Niiro, Masamichi Atsuchi, Junji Kasuya, Hiroshi Tokimura, Kazunori Arita
No abstract text is available yet for this article.
April 26, 2017: Journal of Orthopaedic Science: Official Journal of the Japanese Orthopaedic Association
https://www.readbyqxmd.com/read/28452193/effects-of-placebos-without-deception-compared-with-no-treatment-a-systematic-review-and-meta-analysis
#12
James E G Charlesworth, Grace Petkovic, John M Kelley, Monika Hunter, Igho Onakpoya, Nia Roberts, Franklin G Miller, Jeremy Howick
OBJECTIVE: To investigate the clinical efficacy of open-label placebos compared with no treatment in a systematic review and meta-analysis. METHODS: We searched the Cochrane Injuries Group's Specialised Register, The Cochrane Central Register of Controlled Trials (CENTRAL), Ovid MEDLINE(R) In-Process & Other Non-Indexed Citations (OvidSP), EMBASE (OvidSP), and clinical trials registers and screened reference lists. The search was run on April 27(th) 2015. We included all randomised controlled trials of any medical condition with open-label placebo and no-treatment groups...
April 27, 2017: Journal of Evidence-based Medicine
https://www.readbyqxmd.com/read/28450231/bow-hunter-s-syndrome-surgical-management-video-and-review-of-the-literature
#13
Ben A Strickland, Martin H Pham, Joshua Bakhsheshian, Jonathan J Russin, William J Mack, Frank L Acosta
BACKGROUND: Bow Hunter's Syndrome (BHS) is a rare condition characterized by vertebrobasilar insufficiency associated with rotational vertebral artery occlusion during head movement. Many existing reports describe surgical management, though no single technique has proven superior. OBJECTIVE: To review all reported cases of BHS with focus on outcomes of individual techniques as well as present a video report of a posterior decompression without fusion performed at the authors' institution...
April 24, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28434272/wideband-acoustic-immittance-in-children-with-down-syndrome-prediction-of-middle-ear-dysfunction-conductive-hearing-loss-and-patent-pe-tubes
#14
Lisa L Hunter, Douglas H Keefe, M Patrick Feeney, David K Brown, Jareen Meinzen-Derr, Alaaeldin M Elsayed, Julia M Amann, Vairavan Manickam, Denis Fitzpatrick, Sally R Shott
OBJECTIVE: The purpose of this study was to evaluate pressurised wideband acoustic immittance (WAI) tests in children with Down syndrome (DS) and in typically developing children (TD) for prediction of conductive hearing loss (CHL) and patency of pressure equalising tubes (PETs). DESIGN: Audiologic diagnosis was determined by audiometry in combination with distortion-product otoacoustic emissions, 0.226 kHz tympanometry and otoscopy. WAI results were compared for ears within diagnostic categories (Normal, CHL and PET) and between groups (TD and DS)...
April 22, 2017: International Journal of Audiology
https://www.readbyqxmd.com/read/28431416/caring-for-critically-injured-children-an-analysis-of-56-pediatric-damage-control-laparotomies
#15
Miguel A Villalobos, Joshua P Hazelton, Rachel L Choron, Lisa Capano-Wehrle, Krystal Hunter, John P Gaughan, Steven E Ross, Mark J Seamon
BACKGROUND: Injury is the leading cause of death in children under 18 years. Damage control principles have been extensively studied in adults but remain relatively unstudied in children. Our primary study objective was to evaluate the use of damage control laparotomy (DCL) in critically injured children. METHODS: An American College of Surgeons-verified Level 1 trauma center review (1996-2013) of pediatric trauma laparotomies was undertaken. Exclusion criteria included: age older than 18 years, laparotomy for abdominal compartment syndrome or delayed longer than 2 hours after admission...
May 2017: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/28329264/bow-hunter-syndrome-elicited-by-vertebral-arterial-occlusion-after-total-arch-replacement
#16
Hiroto Kitahara, Tomohiro Takeda, Kazumi Akasaka, Hiroyuki Kamiya
An 83-year-old man with arch aneurysm underwent total arch replacement with frozen elephant trunk and extra-anatomical left subclavian artery bypass. One year later, he felt dizziness associated with head rotation. The hypoplastic left vertebral artery was occluded by a thrombus extending from the left subclavian artery ligation site, and the dynamic stenosis of right vertebral artery by head rotation induced dizziness. He was diagnosed with Bow Hunter syndrome. Vertebral artery hypoplasia represents a possible cause of this rare complication...
May 1, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/28321081/metoclopramide-induced-serotonin-syndrome
#17
Taku Harada, Takanobu Hirosawa, Kouhei Morinaga, Taro Shimizu
A 40-year-old woman with bipolar disorder who was taking mirtazapine presented with mydriasis, abnormal diaphoresis, myoclonus and muscle rigidity after taking metocloplamide. Her medical history, which included the use of serotonergic agents, and the presence of symptoms including myoclonus and muscle rigidity were consistent with a diagnosis of serotonin syndrome (SS) according to the Hunter criteria. The symptoms diminished following three days of treatment with oral lorazepam and cyproheptadine and a reduced dose of mirtazapine...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28303898/circulating-tumour-dna-reflects-treatment-response-and-clonal-evolution-in-chronic-lymphocytic-leukaemia
#18
Paul Yeh, Tane Hunter, Devbarna Sinha, Sarah Ftouni, Elise Wallach, Damian Jiang, Yih-Chih Chan, Stephen Q Wong, Maria Joao Silva, Ravikiran Vedururu, Kenneth Doig, Enid Lam, Gisela Mir Arnau, Timothy Semple, Meaghan Wall, Andjelija Zivanovic, Rishu Agarwal, Pasquale Petrone, Kate Jones, David Westerman, Piers Blombery, John F Seymour, Anthony T Papenfuss, Mark A Dawson, Constantine S Tam, Sarah-Jane Dawson
Several novel therapeutics are poised to change the natural history of chronic lymphocytic leukaemia (CLL) and the increasing use of these therapies has highlighted limitations of traditional disease monitoring methods. Here we demonstrate that circulating tumour DNA (ctDNA) is readily detectable in patients with CLL. Importantly, ctDNA does not simply mirror the genomic information contained within circulating malignant lymphocytes but instead parallels changes across different disease compartments following treatment with novel therapies...
March 17, 2017: Nature Communications
https://www.readbyqxmd.com/read/28292383/mucopolysaccharidoses-clinical-spectrum-and-frequency-of-different-types
#19
Huma Arshad Cheema, Hassan Suleman Malik, Muhammad Almas Hashmi, Zafar Fayyaz, Iqra Mushtaq, Nagina Shahzadi
OBJECTIVE: To determine the relative frequency and clinical features of different varieties of mucopolysaccharidosis. STUDY DESIGN: Descriptive study. PLACE AND DURATION OF STUDY: Department of Pediatric Gastroenterology, Hepatology and Nutrition, The Children's Hospital and The Institute of Child Health, Lahore, from January 2013 to December 2015. METHODOLOGY: All patients who had any feature suggestive of mucopolysaccharidosis were screened with detailed history, clinical examination and skeletal survey...
February 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28274162/neonatal-outcomes-of-preterm-twins-according-to-mode-of-birth-and-presentation
#20
Tiffany Hunter, Jyotsna Shah, Anne Synnes, Sandesh Shivananda, Greg Ryan, Prakesh S Shah, Kellie E Murphy
PURPOSE: To compare neonatal outcomes of twins delivered <33 weeks' gestation in tertiary centers in Canada according to the mode of birth and presentation. MATERIALS AND METHODS: This retrospective cohort from the Canadian Neonatal Network database studied preterm twins born from 24 + 0 to 32 + 6 weeks' gestation between 2005 and 2012. Twins were grouped by the mode of birth: both vaginal, combined vaginal/cesarean section (CS), and both CS. Additionally, twins were grouped by the mode of presentation: both vertex, vertex/breech, breech/vertex, and both breech...
March 8, 2017: Journal of Maternal-fetal & Neonatal Medicine
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