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Hunter syndrome

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https://www.readbyqxmd.com/read/29035941/arterial-stiffness-and-cardiometabolic-phenotype-of-cameroonian-pygmies-and-bantus
#1
William Ngatchou, Daniel Lemogoum, Christian Mélot, Virginie Guimfacq, Philippe van de Borne, Jean Claude Wautrecht, Michel P Hermans, Luc Van Bortel, Marc Leeman
BACKGROUND: Pygmies living in the Central African rainforest with a traditional hunter-gatherer lifestyle have a low incidence of cardiovascular diseases. Because of progressive loss of traditional habitat and ancestral lands, some Pygmies have migrated to urban areas and adopt specific Bantu lifestyles such as increased salt consumption and a sedentary way of life. We tested the hypothesis that migrant Pygmies could present with hemodynamic and metabolic characteristics different from those of traditional in-situ Pygmies and possibly closer to those of Bantu farmers...
October 13, 2017: Journal of Hypertension
https://www.readbyqxmd.com/read/29033043/in%C3%A2-vivo-lung-perfusion-rehabilitates-sepsis-induced-lung-injury
#2
J Hunter Mehaffey, Eric J Charles, Sarah Schubert, Morgan Salmon, Ashish K Sharma, Dustin Money, Mark H Stoler, Victor E Laubach, Curtis G Tribble, Mark E Roeser, Irving L Kron
BACKGROUND: Sepsis is the leading cause of lung injury in adults and can lead to acute respiratory distress syndrome (ARDS). Using a novel technique of isolated in vivo lung perfusion (IVLP), we hypothesized that normothermic IVLP will improve oxygenation and compliance in a porcine model of sepsis-induced lung injury. METHODS: Mature adult swine (n = 8) were administered lipopolysaccharide (LPS; 50 μg/kg over 2 hours) via the external jugular vein, followed by sternotomy and central extracorporeal membrane oxygenation (ECMO) cannulation (right atrium to ascending aorta)...
September 14, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29018650/surgical-treatment-of-rotational-vertebral-artery-syndrome-induced-by-spinal-tumor-a-case-report-and-literature-review
#3
Shoichi Haimoto, Yusuke Nishimura, Masahito Hara, Yuu Yamamoto, Toshiki Fukuoka, Ryuichi Fukuyama, Toshihiko Wakabayashi, Howard J Ginsberg
Vertebrobasilar insufficiency (VBI) provoked by physiological head rotation is known as rotational vertebral artery syndrome (RVAS) or Bow Hunter syndrome. RVAS most often occurs at C1-2 level with head rotation and presents with symptoms of VBI. Several previously published studies have reported RVAS at subaxial sites (V2 segment), however, tumor-induced RVAS has never been reported. The authors report the first case of RVAS at V2 segment due to compression from a spinal tumor. A 71-year-old man presented with symptoms of dizziness provoked by head rotation or neck extension...
October 2017: NMC Case Rep J
https://www.readbyqxmd.com/read/28974237/clinical-outcomes-in-idursulfase-treated-patients-with-mucopolysaccharidosis-type-ii-3-year-data-from-the-hunter-outcome-survey-hos
#4
Joseph Muenzer, Roberto Giugliani, Maurizio Scarpa, Anna Tylki-Szymańska, Virginie Jego, Michael Beck
BACKGROUND: Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is a rare, X-linked disorder caused by deficient activity of the enzyme iduronate-2-sulfatase (I2S). Treatment is available in the form of enzyme replacement therapy (ERT) with recombinant I2S. Clinical outcomes following ≥3 years of ERT with idursulfase were investigated in a broad population of patients with MPS II enrolled in the Hunter Outcome Survey (HOS). METHODS: As of January 2016, 639 patients (excluding female patients, individuals who had received a bone marrow transplant and those enrolled in the phase 1/2 [TKT018] or phase 2/3 [TKT024] clinical trial) followed prospectively in the registry had received idursulfase for ≥6 months...
October 3, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28968900/eligibility-for-clinical-trials-in-primary-sj%C3%A3-gren-s-syndrome-lessons-from-the-uk-primary-sj%C3%A3-gren-s-syndrome-registry
#5
Clare Oni, Sheryl Mitchell, Katherine James, Wan-Fai Ng, Bridget Griffiths, Victoria Hindmarsh, Elizabeth Price, Colin T Pease, Paul Emery, Peter Lanyon, Adrian Jones, Michele Bombardieri, Nurhan Sutcliffe, Costantino Pitzalis, John Hunter, Monica Gupta, John McLaren, Annie Cooper, Marian Regan, Ian Giles, David Isenberg, Vadivelu Saravanan, David Coady, Bhaskar Dasgupta, Neil McHugh, Steven Young-Min, Robert Moots, Nagui Gendi, Mohammed Akil, Francesca Barone, Ben Fisher, Saaeha Rauz, Andrea Richards, Simon J Bowman
No abstract text is available yet for this article.
August 18, 2017: Rheumatology
https://www.readbyqxmd.com/read/28950859/protocol-for-a-multi-centre-randomised-controlled-trial-comparing-arthroscopic-hip-surgery-to-physiotherapy-led-care-for-femoroacetabular-impingement-fai-the-australian-fashion-trial
#6
Nicholas J Murphy, Jillian Eyles, Kim L Bennell, Megan Bohensky, Alexander Burns, Fraser M Callaghan, Edward Dickenson, Camdon Fary, Stuart M Grieve, Damian R Griffin, Michelle Hall, Rachel Hobson, Young Jo Kim, James M Linklater, David G Lloyd, Robert Molnar, Rachel L O'Connell, John O'Donnell, Michael O'Sullivan, Sunny Randhawa, Stephan Reichenbach, David J Saxby, Parminder Singh, Libby Spiers, Phong Tran, Tim V Wrigley, David J Hunter
BACKGROUND: Femoroacetabular impingement syndrome (FAI), a hip disorder affecting active young adults, is believed to be a leading cause of hip osteoarthritis (OA). Current management approaches for FAI include arthroscopic hip surgery and physiotherapy-led non-surgical care; however, there is a paucity of clinical trial evidence comparing these approaches. In particular, it is unknown whether these management approaches modify the future risk of developing hip OA. The primary objective of this randomised controlled trial is to determine if participants with FAI who undergo hip arthroscopy have greater improvements in hip cartilage health, as demonstrated by changes in delayed gadolinium-enhanced magnetic resonance imaging (MRI) of cartilage (dGEMRIC) index between baseline and 12 months, compared to those who undergo physiotherapy-led non-surgical management...
September 26, 2017: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/28943421/rotational-vertebral-artery-dissection-secondary-to-an-anomalous-entrance-into-transverse-foramen-case-report
#7
Stephen A Johnson, Andrew F Ducruet, J B Bellotte, Charles E Romero, Robert M Friedlander
BACKGROUND: Rotational vertebral artery occlusion is a rare syndrome characterized by vertebrobasilar insufficiency secondary to position-dependent occlusion of the vertebral artery. Most cases reported in the literature have been attributed to osteophytic compression, either from the occipital condyle or within the transverse foramen. However, vertebral artery dissection secondary to motion in the setting of anomalous anatomy has not been reported. CASE DESCRIPTION: To the authors' knowledge, rotational vertebral artery occlusion and dissection secondary to anomalous entrance into the transverse foramen has never been reported...
September 21, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28931788/severe-aortic-and-mitral-stenosis-secondary-to-slowly-progressive-hunter-syndrome-in-an-elderly-patient
#8
Yosuke Takahashi, Takashi Murakami, Hiromichi Fujii, Masanori Sakaguchi, Shinsuke Nishimura, Daisuke Yasumizu, Yoshito Sakon, Yuki Kubo, Masahiko Osawa, Toshihiko Shibata
No abstract text is available yet for this article.
September 21, 2017: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/28931039/abnormalities-in-substance-p-neurokinin-1-receptor-binding-in-key-brainstem-nuclei-in-sudden-infant-death-syndrome-related-to-prematurity-and-sex
#9
Fiona M Bright, Robert Vink, Roger W Byard, Jhodie R Duncan, Henry F Krous, David S Paterson
Sudden infant death syndrome (SIDS) involves failure of arousal to potentially life threatening events, including hypoxia, during sleep. While neuronal dysfunction and abnormalities in neurotransmitter systems within the medulla oblongata have been implicated, the specific pathways associated with autonomic and cardiorespiratory failure are unknown. The neuropeptide substance P (SP) and its tachykinin neurokinin-1 receptor (NK1R) have been shown to play an integral role in the modulation of homeostatic function in the medulla, including regulation of respiratory rhythm generation, integration of cardiovascular control, and modulation of the baroreceptor reflex and mediation of the chemoreceptor reflex in response to hypoxia...
2017: PloS One
https://www.readbyqxmd.com/read/28918469/aversive-and-non-aversive-memory-impairment-in-the-mucopolysaccharidosis-ii-mouse-model
#10
Amanda Stapenhorst Azambuja, Lilian Correa, Bernardo Pappi Gabiatti, Giselle Renata Martins, Álvaro de Oliveira Franco, Maria Flávia Marques Ribeiro, Guilherme Baldo
Hunter syndrome (MPS II, OMIM 309900) is a lysosomal storage disorder due to deficient iduronate sulphatase activity. Patients present multiple cognitive alterations, and the aim of this work was to verify if MPS II mice also present some progressive cognitive alterations. For that, MPS II mice from 2 to 6 months of age were submitted to repeated open field and inhibitory avoidance tests to evaluate memory parameters. MPS II mice presented impaired memory at 6 months evaluated by open field test. They also performed poorly in the inhibitory avoidance test from 4 months...
September 16, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28894675/carpal-tunnel-syndrome-in-the-setting-of-mucopolysaccharidosis-ii-hunter-syndrome
#11
Anne E Argenta, Alexander Davit
BACKGROUND: Carpal tunnel syndrome (CTS) is a rare finding in children, but heavily represented in pediatric patients with mucopolysaccharidoses. Diagnosis is a challenge due to lack of the stereotypical symptomatic complaints and relies on examination and objective nerve conduction studies. METHODS: We present a case of delayed presentation of CTS in a 12-year-old boy with Hunter syndrome, followed by a review of the literature. RESULTS: Patient Z...
August 2017: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/28888845/eosinophilic-esophagitis-linked-to-pollen-food-syndrome
#12
Hannah Hunter, Terence Wong, Alison Winstanley, Stephen J Till
No abstract text is available yet for this article.
September 6, 2017: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/28887757/survival-in-idursulfase-treated-and-untreated-patients-with-mucopolysaccharidosis-type-ii-data-from-the-hunter-outcome-survey-hos
#13
Barbara K Burton, Virginie Jego, Jaromir Mikl, Simon A Jones
Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is a life-limiting, multisystemic disease with varying presentation and severity. Enzyme replacement therapy with intravenous idursulfase (EC 3.1.6.13) has been available since 2006. Data from the Hunter Outcome Survey (July 2016) were used to compare survival in idursulfase-treated (n = 800) and untreated (n = 95) male patients followed prospectively in this multinational, observational registry. Median age at symptom onset was similar for the treated and untreated groups (1...
November 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28860717/development-of-idursulfase-therapy-for-mucopolysaccharidosis-type-ii-hunter-syndrome-the-past-the-present-and-the-future
#14
REVIEW
David Ah Whiteman, Alan Kimura
Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is a rare, multisystemic, progressive lysosomal storage disease caused by deficient activity of the iduronate-2-sulfatase (I2S) enzyme. Accumulation of the glycosaminoglycans dermatan sulfate and heparan sulfate results in a broad range of disease manifestations that are highly variable in presentation and severity; notably, approximately two-thirds of individuals are affected by progressive central nervous system involvement. Historically, management of this disease was palliative; however, during the 1990s, I2S was purified to homogeneity for the first time, leading to cloning of the corresponding gene and offering a means of addressing the underlying cause of MPS II using enzyme replacement therapy (ERT)...
2017: Drug Design, Development and Therapy
https://www.readbyqxmd.com/read/28828133/bow-hunter-s-syndrome-in-a-patient-with-vertebral-artery-atresia-an-arcuate-foramen-and-unilateral-deafness-a-case-report
#15
Charles T Simpkin, Kelly E Davis, Brady S Davis, Andrew M Vosko, Michael E Jorgensen
Bow hunter's syndrome (BHS) is a rare cause of vertebrobasilar insufficiency that occurs when the vertebral artery (VA) is occluded on rotation of the head and neck. This dynamic occlusion of the VA can occur anywhere along its course after it arises from the subclavian artery. Although most cases are associated with compression by osteophytes, cervical spondylosis, or lateral disc herniation, BHS has a highly variable clinical course that depends on the patient's specific anatomy. Therefore, it may be important for clinicians to be aware of anatomical variants that predispose individuals to BHS...
September 2017: Radiology case reports
https://www.readbyqxmd.com/read/28820625/multimodal-image-analysis-of-the-retina-in-hunter-syndrome-mucopolysaccharidosis-type-ii-case-report
#16
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
#17
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
#18
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 & AIMS: Hepatitis E virus (HEV) has been associated with a number of neurological syndromes, but causality has not yet been established. The aim of this study was to explore the relationship between HEV and neurological illness by prospective HEV testing of patients presenting with acute non-traumatic neurological injury. METHODS: Four hundred and sixty-four consecutive patients presenting to hospital with acute non-traumatic neurological illnesses were tested for HEV by serology and PCR from four centres in the UK, France and the Netherlands...
July 20, 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
#19
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
#20
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
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