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Hunter syndrome

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https://www.readbyqxmd.com/read/28103342/failed-tracheal-intubation-in-a-child-with-unrecognized-hunter-s-syndrome-having-emergency-surgery
#1
F Meng, Y Li, G Wang, Q Wang
No abstract text is available yet for this article.
July 7, 2016: West Indian Medical Journal
https://www.readbyqxmd.com/read/28087518/cardiovascular-function-in-male-and-female-jcr-la-cp-rats-effect-of-high-fat-high-sucrose-diet
#2
Ian Hunter, Amanda Soler, Gregory Joseph, Brenda Hutcheson, Chastity Bradford, Frank Zhang, Barry J Potter, Spencer D Proctor, Petra Rocic
30% of the world population is diagnosed with metabolic syndrome. High fat/high sucrose diet (HF/HS, Western diet) correlates with metabolic syndrome prevalence. We characterized effects of the HF/HS diet on vascular (arterial stiffness, vasoreactivity, coronary collateral development) and cardiac (echocardiography) function, oxidative stress and inflammation in a rat model of metabolic syndrome (JCR). Furthermore, we determined whether male vs. female animals were affected differentially by the Western diet...
January 13, 2017: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/28077157/clinical-biochemical-and-molecular-characteristics-of-filipino-patients-with-mucopolysaccharidosis-type-ii-hunter-syndrome
#3
Mary Anne D Chiong, Daffodil M Canson, Mary Ann R Abacan, Melissa Mae P Baluyot, Cynthia P Cordero, Catherine Lynn T Silao
BACKGROUND: Mucopolysaccharidosis type II, an X-linked recessive disorder is the most common lysosomal storage disease detected among Filipinos. This is a case series involving 23 male Filipino patients confirmed to have Hunter syndrome. The clinical and biochemical characteristics were obtained and mutation testing of the IDS gene was done on the probands and their female relatives. RESULTS: The mean age of the patients was 11.28 (SD 4.10) years with an average symptom onset at 1...
January 11, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28062802/moving-target-transient-rotational-stenosis-precipitating-jugular-bow-hunter-s-syndrome
#4
Waleed Brinjikji, Christopher S Graffeo, Avital Perry, Terence Zimmerman, Jeffrey R Janus, Pearce P Morris, Gregory D Cascino, Giuseppe Lanzino
A 60-year-old man presented with a 10-month history of of stereotypical spells characterized by vertigo, tinnitus, blurred vision, left hemibody numbness, and occasional syncope, precipitated by turning his head leftwards. Cerebral angiography and CT angiography of the head and neck with provocative maneuvers did not demonstrate vertebral artery narrowing. However, there was narrowing of the left internal jugular vein due to extrinsic compression from the sternocleidomastoid with leftward head rotation in the setting of hypoplasia of the right internal jugular vein...
January 6, 2017: Journal of Neurointerventional Surgery
https://www.readbyqxmd.com/read/28018694/anterior-hypopituitarism-and-treatment-response-in-hunter-syndrome-a-comparison-of-two-patients
#5
Munier A Nour, Paola Luca, David Stephure, Xing-Chang Wei, Aneal Khan
Hypopituitarism is a clinically important diagnosis and has not previously been reported in Hunter syndrome. We contrast two cases with anatomic pituitary anomalies: one with anterior panhypopituitarism and the other with intact pituitary function. Patient 1, a 10-year-old boy with Hunter syndrome, was evaluated for poor growth and an ectopic posterior pituitary gland. Endocrine testing revealed growth hormone (GH) deficiency, secondary adrenal insufficiency, and tertiary hypothyroidism. An improvement in growth velocity with hormone replacement (GH, thyroxine, and corticosteroid) was seen; however, final adult height remained compromised...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28013357/physical-activity-but-not-sedentary-activity-is-reduced-in-primary-sj%C3%A3-gren-s-syndrome
#6
Wan-Fai Ng, Ariana Miller, Simon J Bowman, Elizabeth J Price, George D Kitas, Colin Pease, Paul Emery, Peter Lanyon, John Hunter, Monica Gupta, Ian Giles, David Isenberg, John McLaren, Marian Regan, Annie Cooper, Steven A Young-Min, Neil McHugh, Saravanan Vadivelu, Robert J Moots, David Coady, Kirsten MacKay, Bhaskar Dasgupta, Nurhan Sutcliffe, Michele Bombardieri, Costantino Pitzalis, Bridget Griffiths, Sheryl Mitchell, Samira Tatiyama Miyamoto, Michael Trenell
The aim of the study was to evaluate the levels of physical activity in individuals with primary Sjögren's syndrome (PSS) and its relationship to the clinical features of PSS. To this cross-sectional study, self-reported levels of physical activity from 273 PSS patients were measured using the International Physical Activity Questionnaire-short form (IPAQ-SF) and were compared with healthy controls matched for age, sex and body mass index. Fatigue and other clinical aspects of PSS including disease status, dryness, daytime sleepiness, dysautonomia, anxiety and depression were assessed using validated tools...
December 24, 2016: Rheumatology International
https://www.readbyqxmd.com/read/28011587/elevated-20-hete-impairs-coronary-collateral-growth-in-metabolic-syndrome-via-endothelial-dysfunction
#7
Gregory Joseph, Amanda Soler, Rebecca Hutcheson, Ian Hunter, Chastity Bradford, Brenda Hutcheson, Katherine H Gotlinger, Houli Jiang, John R Falck, Spencer Proctor, Michal Laniado Schwartzman, Petra Rocic
Coronary collateral growth (CCG) is impaired in metabolic syndrome (MetS). microRNA-145 (miR-145-Adv) delivery to our rat model of metabolic syndrome (JCR) completely restored and neutrophil depletion significantly improved CCG. We determined whether low endogenous levels of miR-145 in MetS allowed for elevated production of 20-hydroxyeicosatetraenoic acid (20-HETE), which in turn, resulted in excessive neutrophil accumulation and endothelial dysfunction leading to impaired CCG. Rats underwent 0-9 days of repetitive ischemia (RI)...
December 23, 2016: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/28001909/neudose-a-cubesat-mission-for-dosimetry-of-charged-particles-and-neutrons-in-low-earth-orbit
#8
A R Hanu, J Barberiz, D Bonneville, S H Byun, L Chen, C Ciambella, E Dao, V Deshpande, R Garnett, S D Hunter, A Jhirad, E M Johnston, M Kordic, M Kurnell, L Lopera, M McFadden, A Melnichuk, J Nguyen, A Otto, R Scott, D L Wagner, M Wiendels
During space missions, astronauts are exposed to a stream of energetic and highly ionizing radiation particles that can suppress immune system function, increase cancer risks and even induce acute radiation syndrome if the exposure is large enough. As human exploration goals shift from missions in low-Earth orbit (LEO) to long-duration interplanetary missions, radiation protection remains one of the key technological issues that must be resolved. In this work, we introduce the NEUtron DOSimetry & Exploration (NEUDOSE) CubeSat mission, which will provide new measurements of dose and space radiation quality factors to improve the accuracy of cancer risk projections for current and future space missions...
December 21, 2016: Radiation Research
https://www.readbyqxmd.com/read/27999126/moving-target-transient-rotational-stenosis-precipitating-jugular-bow-hunter-s-syndrome
#9
Waleed Brinjikji, Christopher S Graffeo, Avital Perry, Terence Zimmerman, Jeffrey R Janus, Pearce P Morris, Gregory D Cascino, Giuseppe Lanzino
A 60-year-old man presented with a 10-month history of of stereotypical spells characterized by vertigo, tinnitus, blurred vision, left hemibody numbness, and occasional syncope, precipitated by turning his head leftwards. Cerebral angiography and CT angiography of the head and neck with provocative maneuvers did not demonstrate vertebral artery narrowing. However, there was narrowing of the left internal jugular vein due to extrinsic compression from the sternocleidomastoid with leftward head rotation in the setting of hypoplasia of the right internal jugular vein...
December 20, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27992710/subjective-and-objective-measures-of-dryness-symptoms-in-primary-sj%C3%A3-gren-s-syndrome-capturing-the-discrepancy
#10
Oriana M Bezzina, Peter Gallagher, Sheryl Mitchell, Simon J Bowman, Bridget Griffiths, Victoria Hindmarsh, Ben Hargreaves, Elizabeth J Price, Colin T Pease, Paul Emery, Peter Lanyon, Michele Bombardieri, Nurhan Sutcliffe, Costantino Pitzalis, John Hunter, Monica Gupta, John McLaren, Anne M Cooper, Marian Regan, Ian P Giles, David A Isenberg, Saravanan Vadivelu, David Coady, Bhaskar Dasgupta, Neil J McHugh, Steven A Young-Min, Robert J Moots, Nagui Gendi, Mohammed Akil, Kirsten MacKay, W Fai Ng, Lucy J Robinson
BACKGROUND: There is a weak relationship between subjective symptoms and objective markers of disease activity in individuals with Primary Sjögren's Syndrome (PSS). This presents a significant barrier to developing treatments if modifying disease markers does not translate into reduced perception of symptoms. Little is known about the reasons for this discrepancy. OBJECTIVES: To develop a novel method for capturing the discrepancy between objective tests and subjective dryness symptoms (a 'Sensitivity' scale) and to explore predictors of dryness Sensitivity...
December 19, 2016: Arthritis Care & Research
https://www.readbyqxmd.com/read/27971714/cost-analysis-of-therapy-with-idursulfase-for-hunter-syndrome-in-bulgaria
#11
M Kamusheva, M Doneva, M Dimitrova, G Petrova
No abstract text is available yet for this article.
November 2016: Value in Health: the Journal of the International Society for Pharmacoeconomics and Outcomes Research
https://www.readbyqxmd.com/read/27965142/duane-syndrome-with-prominent-oculo-auricular-phenomenon
#12
Aubrey L Gilbert, David G Hunter
Duane syndrome is a congenital cranial dysinnervation disorder involving absent or anomalous innervation of the lateral and medial rectus muscles that is sometimes associated with other manifestations of dysinnervation. We describe a patient with right esotropic Duane syndrome with a long-standing retroauricular tugging sensation in right gaze who was noted to have prominent ipsilateral oculo-auricular phenomenon, representing either abnormal enhancement of existing innervation or an uncommon dysinnervation...
December 10, 2016: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/27913904/association-between-brain-structural-anomalies-electroencephalogram-and-history-of-seizures-in-mucopolysaccharidosis-type-ii-hunter-syndrome
#13
Ramón Ernesto Jiménez-Arredondo, Aniel Jessica Leticia Brambila-Tapia, Francisco Miguel Mercado-Silva, Martha Ortiz-Aranda, Verónica Benites-Godinez, Graciela Olmos-García-de-Alba, Luis Eduardo Figuera
Mucopolysaccharidosis type II or Hunter syndrome (MPS II) is a genetic disease that can course with intellectual impairment and central nervous system (CNS) alterations. To date, no report has documented electroencephalogram (EEG) measures associated with CNS alterations, detected by imaging studies, and the history of seizures in patients with MPS II. Therefore, we decided to search this association. We included 9 patients with MPS II and performed imaging studies of the brain to detect the presence of cortico-subcortical atrophy, enlarged subarachnoid space and supratentorial ventricular size...
December 2, 2016: Neurological Sciences
https://www.readbyqxmd.com/read/27899021/does-preoperative-diplopia-determine-the-incidence-of-postoperative-diplopia-after-repair-of-orbital-floor-fracture-an-institutional-review
#14
Avisham Ramphul, Gary Hoffman
PURPOSE: The purpose of our study was to investigate whether the occurrence of preoperative diplopia determines the incidence of postoperative diplopia after orbital floor repair. MATERIALS AND METHODS: We undertook a retrospective cohort study with a review of the records of 126 consecutive patients who had undergone repair of an orbital floor fracture under the maxillofacial surgery service at John Hunter Hospital (Newcastle, NSW, Australia). The primary predictor variables were a number of demographic, etiologic, and operative factors that might influence the occurrence of diplopia...
November 9, 2016: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/27889491/pramipexole-enhances-disadvantageous-decision-making-lack-of-relation-to-changes-in-phasic-dopamine-release
#15
Romina Pes, Sean C Godar, Andrew T Fox, Lauren M Burgeno, Hunter J Strathman, David P Jarmolowicz, Paola Devoto, Beth Levant, Paul E Phillips, Stephen C Fowler, Marco Bortolato
Pramipexole (PPX) is a high-affinity D2-like dopamine receptor agonist, used in the treatment of Parkinson's disease (PD) and restless leg syndrome. Recent evidence indicates that PPX increases the risk of problem gambling and impulse-control disorders in vulnerable patients. Although the molecular bases of these complications remain unclear, several authors have theorized that PPX may increase risk propensity by activating presynaptic dopamine receptors in the mesolimbic system, resulting in the reduction of dopamine release in the nucleus accumbens (NAcc)...
March 1, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/27888081/bow-hunter-s-syndrome-from-a-tortuous-v1-segment-vertebral-artery-treated-with-stent-placement
#16
Rouzbeh Motiei-Langroudi, Christoph J Griessenauer, Abdulrahman Alturki, Nimer Adeeb, Ajith J Thomas, Christopher S Ogilvy
BACKGROUND: Bow hunter's syndrome is a dynamic and reversible occlusion of the vertebral artery occurring after rotation or extension of the neck. The V3 segment is the most common site of compression, especially at the atlantoaxial joint. Surgical decompression with or without cervical fusion has been the mainstay of therapy. Endovascular intervention, such as placement of stents, is rarely performed. METHODS: We report a patient with bow hunter's syndrome from tortuosity of the V1 segment of the VA treated with a self-expanding biliary stent placement...
November 22, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/27883178/genotype-phenotype-correlation-in-44-czech-slovak-croatian-and-serbian-patients-with-mucopolysaccharidosis-type-ii
#17
Lenka Dvorakova, Hana Vlaskova, Adrijan Sarajlija, Danijela Petkovic Ramadza, Helena Poupetova, Eva Hruba, Anna Hlavata, Vladimir Bzduch, Karolina Peskova, Gabriela Storkanova, Bozica Kecman, Maja Djordjevic, Ivo Baric, Ksenija Fumic, Ingeborg Barisic, Martin Reboun, Jan Kulhanek, Jiri Zeman, Martin Magner
Mucopolysaccharidosis type II (Hunter syndrome, MPS II, OMIM 309900) is an X-linked lysosomal storage disorder caused by deficiency of iduronate-2-sulfatase (IDS). We analysed clinical and laboratory data from 44 Slavic patients with this disease. In total, 21 Czech, 7 Slovak, 9 Croatian and 7 Serbian patients (43 M/1 F) were included in the study (median age 11.0 years, range 1.2-43 years). Birth prevalence ranged from 1:69,223 (Serbia) to 1:192,626 (Czech Rep.). In the majority of patients (71%), the disease manifested in infancy...
November 24, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27858969/zika-virus-quantification-propagation-detection-and-storage
#18
Darrell S Agbulos, Larissa Barelli, Bryan V Giordano, Fiona F Hunter
Zika virus (ZIKV), belonging to the family Flaviviridae, genus Flavivirus, is an arthropod-borne virus that was first discovered from the Zika forest in Uganda in 1947. Recent outbreaks in South America have linked ZIKV to cases of microcephaly and Guillain-Barré syndrome in humans. With the increased interest in ZIKV, protocols must be established to facilitate proper research. Here we describe the laboratory techniques required to quantify, propagate, and store ZIVK. We also review the proper safety protocol for the handling of ZIKV, which is classified as a Biosafety Level 2 pathogen by the United States Centers for Disease Control and Prevention...
November 18, 2016: Current Protocols in Microbiology
https://www.readbyqxmd.com/read/27832551/anaesthetic-implications-of-the-changing-management-of-patients-with-mucopolysaccharidosis
#19
H A Hack, Rwm Walker, P Gardiner
The mucopolysaccharidoses are a group of inherited metabolic disorders that are renowned for presenting clinical problems, particularly related to cardiac, airway, and skeletal abnormalities, in children during anaesthesia. The changing clinical management of the mucopolysaccharidoses can be described in three phases. An initial phase of accumulation and dissemination of knowledge about the management of this rare disease with a growing recognition that untreated Hurler syndrome and more severe forms of other phenotypes such as Hunter syndrome and Maroteaux-Lamy syndrome were associated with severe complications under anaesthesia...
November 2016: Anaesthesia and Intensive Care
https://www.readbyqxmd.com/read/27829684/comparative-study-of-idursulfase-beta-and-idursulfase-in-vitro-and-in-vivo
#20
Chihwa Kim, Jinwook Seo, Yokyung Chung, Hyi-Jeong Ji, Jaehyeon Lee, Jongmun Sohn, Byoungju Lee, Eui-Cheol Jo
Hunter syndrome is an X-linked lysosomal storage disease caused by a deficiency in the enzyme iduronate-2-sulfatase (IDS), leading to the accumulation of glycosaminoglycans (GAGs). Two recombinant enzymes, idursulfase and idursulfase beta are currently available for enzyme replacement therapy for Hunter syndrome. These two enzymes exhibited some differences in various clinical parameters in a recent clinical trial. Regarding the similarities and differences of these enzymes, previous research has characterized their biochemical and physicochemical properties...
November 10, 2016: Journal of Human Genetics
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