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Hunter syndrom

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https://www.readbyqxmd.com/read/27913904/association-between-brain-structural-anomalies-electroencephalogram-and-history-of-seizures-in-mucopolysaccharidosis-type-ii-hunter-syndrome
#1
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
#2
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
#3
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)...
November 23, 2016: Neuropharmacology
https://www.readbyqxmd.com/read/27888081/bow-hunter-s-syndrome-from-a-tortuous-v1-segment-vertebral-artery-treated-with-stent-placement
#4
Rouzbeh Motiei-Langroudi, Christoph J Griessenauer, Abdulrahman Alturki, Nimer Adeeb, Ajith J Thomas, Christopher S Ogilvy
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 atlanto-axial joint. Surgical decompression with or without cervical fusion has been the mainstay of therapy and endovascular intervention such as placement of stents is rarely performed. 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
#5
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
#6
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
#7
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
#8
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
https://www.readbyqxmd.com/read/27798325/dynact-angiography-for-the-diagnosis-of-bilateral-bow-hunter-s-syndrome
#9
Tony Lu, Ponraj Chinnadurai, Javier E Anaya-Ayala, Orlando M Diaz
We herein present a rare case of bilateral positional vertebrobasilar insufficiency secondary to mechanical obstruction of the V2 segment of the vertebral artery in a 71-year-old patient presenting with vertigo, occipital headache, tremors and respiratory irregularities. Two-dimensional digital subtraction angiography is the traditional diagnostic imaging standard but does not capture any peri-vascular bony or soft tissue abnormalities that are important to understand the three-dimensional pathophysiology. Intra-procedural cone-beam computed tomography (CT) is an increasingly used diagnostic adjunct, available in most modern angiographic suites that allows for the three-dimensional visualization of the vasculature as well as CT-like soft tissue visualization of its surrounding anatomy...
October 26, 2016: Interventional Neuroradiology
https://www.readbyqxmd.com/read/27788054/diphtheritic-stomatitis-in-yellow-eyed-penguins-megadyptes-antipodes-in-new-zealand
#10
Maurice R Alley, Rod B Suepaul, Bruce McKinlay, Melanie J Young, Jianning Wang, Kerri J Morgan, Stuart A Hunter, Brett D Gartrell
Diphtheritic stomatitis is a seasonal disease that has been recognized as a syndrome in Yellow-eyed Penguin ( Megadyptes antipodes ) chicks in New Zealand for >10 yr. It was present in about 50% of 234 chicks examined since 2002 and is characterized by a thick serocellular exudate in the oral cavity of 1-4-wk-old chicks. The syndrome includes inanition, weight loss, and death in many affected birds. Microscopically, the lesions varied in severity. Most affected chicks had severe, locally extensive, ulcerative stomatitis with large amounts of exudate containing numerous bacteria; a smaller number had mild focal lesions with smaller amounts of exudate and bacteria...
October 27, 2016: Journal of Wildlife Diseases
https://www.readbyqxmd.com/read/27785666/platypnea-orthodeoxia-syndrome-a-case-of-chronic-paroxysmal-hypoxemia
#11
C Craig Rudy, Cody Ballard, Craig Broberg, Alan J Hunter
A 75-year-old man with chronic (30-year) unexplained paroxysmal hypoxemia presented with postural hypoxemia and desaturation consistent with a clinical manifestation of platypnea-orthodeoxia syndrome. His history included a lack of significant past pulmonary disease, yet with intermittent need for oxygen supplementation. On admission he was found to have an interatrial shunt through a patent foramen ovale. Device closure by percutaneous catheterization led to sustained resolution of symptoms. Platypnea-orthodeoxia syndrome is a rare but important consideration in the differential diagnosis of hypoxemia, as it represents a potentially curable cause of hypoxemia, with missed diagnosis leading to possible patient morbidity if untreated...
October 26, 2016: Journal of General Internal Medicine
https://www.readbyqxmd.com/read/27774297/driving-forces-behind-the-evolution-of-the-aleutian-mink-disease-parvovirus-in-the-context-of-intensive-farming
#12
Marta Canuti, Kimberly E O'Leary, Bruce D Hunter, Grant Spearman, Davor Ojkic, Hugh G Whitney, Andrew S Lang
Aleutian mink disease virus (AMDV) causes plasmacytosis, an immune complex-associated syndrome that affects wild and farmed mink. The virus can also infect other small mammals (e.g., ferrets, skunks, ermines, and raccoons), but the disease in these hosts has been studied less. In 2007, a mink plasmacytosis outbreak began on the Island of Newfoundland, and the virus has been endemic in farms since then. In this study, we evaluated the molecular epidemiology of AMDV in farmed and wild animals of Newfoundland since before the beginning of the outbreak and investigated the epidemic in a global context by studying AMDV worldwide, thereby examining its diffusion and phylogeography...
January 2016: Virus Evolution
https://www.readbyqxmd.com/read/27764180/biodistribution-of-idursulfase-formulated-for-intrathecal-use-idursulfase-it-in-cynomolgus-monkeys-after-intrathecal-lumbar-administration
#13
Jou-Ku Chung, Eilish Brown, Bob Crooker, Kathleen J Palmieri, Thomas G McCauley
Enzyme replacement therapy with intravenous idursulfase (recombinant iduronate-2-sulfatase) is approved for the treatment of Hunter syndrome. Intravenous administration does not, however, treat the neurological manifestations, due to its low central nervous system bioavailability. Using intrathecal-lumbar administration, iduronate-2-sulfatase is delivered directly to the central nervous system. This study investigates the central nervous system biodistribution of intrathecal-lumbar administered iduronate-2-sulfatase in cynomolgus monkeys...
2016: PloS One
https://www.readbyqxmd.com/read/27726909/organ-preservation-using-contact-radiotherapy-for-early-rectal-cancer-outcomes-of-patients-treated-at-a-single-centre-in-the-uk
#14
A S Dhadda, A Martin, S Killeen, I A Hunter
AIMS: Contact radiotherapy for early rectal cancer uses 50 kV X-rays to treat rectal cancers under direct vision. We present data of a series of patients treated at a single centre with prospective follow-up and functional assessment. MATERIALS AND METHODS: All patients were treated at the Queen's Centre for Oncology, Hull, UK between September 2011 and October 2015. Patients received a biopsy, magnetic resonance imaging (MRI) of the liver/pelvis, computed tomography of the chest and endorectal ultrasound...
October 7, 2016: Clinical Oncology: a Journal of the Royal College of Radiologists
https://www.readbyqxmd.com/read/27724940/parents-experiences-of-living-with-and-caring-for-children-adolescents-and-young-adults-with-mucopolysaccharidosis-mps
#15
S Somanadhan, P J Larkin
BACKGROUND: Many rare diseases of childhood are life-threatening and chronically debilitating, so living with a rare disease is an on-going challenge for patients and their families. MPS is one of a range of rare inherited metabolic disorders (IMDs) that come under category 3 of life-limiting conditions, where there is no curative treatment available at present. Although the study of rare diseases is increasingly novel, and of clinical importance to the population, the lack of empirical data in the field to support policy and strategy development is a compelling argument for further research to be sought...
October 10, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27716015/rotational-vertebrobasilar-insufficiency-due-to-compression-of-a-persistent-first-intersegmental-vertebral-artery-variant-case-report
#16
Vivek P Buch, Peter J Madsen, Kerry A Vaughan, Paul F Koch, David K Kung, Ali K Ozturk
Rotational vertebrobasilar insufficiency, or bow hunter's syndrome, is a rare cause of posterior circulation ischemia, which, following rotation of the head, results in episodic vertigo, dizziness, nystagmus, or syncope. While typically caused by dynamic occlusion of the vertebral artery in its V2 and V3 segments, the authors here describe a patient with dynamic occlusion of the vertebral artery secondary to a persistent first intersegmental artery, a rare variant course of the vertebral artery. In this case the vertebral artery coursed under rather than over the posterior arch of the C-1...
October 7, 2016: Journal of Neurosurgery. Spine
https://www.readbyqxmd.com/read/27711053/modeling-and-correction-of-structural-variations-in-patient-derived-ipscs-using-crispr-cas9
#17
Chul-Yong Park, Jin Jea Sung, Sang-Hwi Choi, Dongjin R Lee, In-Hyun Park, Dong-Wook Kim
Genome engineering technology using engineered nucleases has been rapidly developing, enabling the efficient correction of simple mutations. However, the precise correction of structural variations (SVs) such as large inversions remains limited. Here we describe a detailed procedure for the modeling or correction of large chromosomal rearrangements and short nucleotide repeat expansions using engineered nucleases in human induced pluripotent stem cells (hiPSCs) from a healthy donor and patients with SVs. This protocol includes the delivery of engineered nucleases with no donor template to hiPSCs, and genotyping and derivation/characterization of gene-manipulated hiPSC clones...
November 2016: Nature Protocols
https://www.readbyqxmd.com/read/27699273/cns-directed-gene-therapy-for-the-treatment-of-neurologic-and-somatic-mucopolysaccharidosis-type-ii-hunter-syndrome
#18
Sandra Motas, Virginia Haurigot, Miguel Garcia, Sara Marcó, Albert Ribera, Carles Roca, Xavier Sánchez, Víctor Sánchez, Maria Molas, Joan Bertolin, Luca Maggioni, Xavier León, Jesús Ruberte, Fatima Bosch
Mucopolysaccharidosis type II (MPSII) is an X-linked lysosomal storage disease characterized by severe neurologic and somatic disease caused by deficiency of iduronate-2-sulfatase (IDS), an enzyme that catabolizes the glycosaminoglycans heparan and dermatan sulphate. Intravenous enzyme replacement therapy (ERT) currently constitutes the only approved therapeutic option for MPSII. However, the inability of recombinant IDS to efficiently cross the blood-brain barrier (BBB) limits ERT efficacy in treating neurological symptoms...
June 16, 2016: JCI Insight
https://www.readbyqxmd.com/read/27696642/partially-methylated-alleles-microdeletion-and-tissue-mosaicism-in-a-fragile-x-male-with-tremor-and-ataxia-at-30-years-of-age-a-case-report
#19
Yun Tae Hwang, Solange Mabel Aliaga, Marta Arpone, David Francis, Xin Li, Belinda Chong, Howard Robert Slater, Carolyn Rogers, Lesley Bretherton, Matthew Hunter, Robert Heard, David Eugeny Godler
CGG repeat expansion >200 within FMR1, termed full mutation (FM), has been associated with promoter methylation, consequent silencing of gene expression and fragile X syndrome (FXS)-a common cause of intellectual disability and co-morbid autism. Unmethylated premutation (55-199 repeats) and FM alleles have been associated with fragile X related tremor/ataxia syndrome (FXTAS), a late onset neurodegenerative disorder. Here we present a 33-year-old male with FXS, with white matter changes and progressive deterioration in gait with cerebellar signs consistent with probable FXTAS; there was no evidence of any other cerebellar pathology...
October 1, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27695081/structural-basis-of-mucopolysaccharidosis-type-ii-and-construction-of-a-database-of-mutant-iduronate-2-sulfatases
#20
Seiji Saito, Kazuki Ohno, Torayuki Okuyama, Hitoshi Sakuraba
Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is an X-linked genetic disorder caused by a deficiency of iduronate 2-sulfatase (IDS), and missense mutations comprising about 30% of the mutations responsible for MPS II result in heterogeneous phenotypes ranging from the severe to the attenuated form. To elucidate the basis of MPS II from the structural viewpoint, we built structural models of the wild type and mutant IDS proteins resulting from 131 missense mutations (phenotypes: 67 severe and 64 attenuated), and analyzed the influence of each amino acid substitution on the IDS structure by calculating the accessible surface area, the number of atoms affected and the root-mean-square distance...
2016: PloS One
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