Articles with "hunter syndrome" as a keyword



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Functional Imaging of Bow Hunter's Syndrome

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Published in 2021 at "Annals of Neurology"

DOI: 10.1002/ana.26024

Abstract: A 52-year-old man presented with a 2-year history of sensory symptoms in his left shoulder and upper arm, as well as dizziness and almost fainting by extensively turning his head to the left. His relevant… read more here.

Keywords: head; functional imaging; artery; hunter syndrome ... See more keywords
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Subcortical infarction in a young adult with Hunter syndrome

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Published in 2022 at "Brain and Development"

DOI: 10.1016/j.braindev.2022.01.003

Abstract: INTRODUCTION Hunter syndrome (mucopolysaccharidosis type II, MPS II) is an X-linked lysosomal storage disease caused by deficiency of iduronate-2-sulfatase. Recently, stroke caused by embolization with Hunter syndrome has been reported. Here, we report the case… read more here.

Keywords: subcortical infarction; infarction; infarction young; young adult ... See more keywords
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Bow hunter syndrome: A rare yet important etiology of posterior circulation stroke

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Published in 2020 at "Journal of Clinical Neuroscience"

DOI: 10.1016/j.jocn.2020.04.110

Abstract: A6-year-oldgirl presented with acute-onset headache andfluctuating right-sided weakness.HerPedNIHSSwas13. Brain MRI/MRA showed acute pontine arterial ischemic stroke(AIS)and remote right cerebellar and thalamic infarcts.No antecedent trauma or other stroke risk factors were identified. Clinical suspicion of bow… read more here.

Keywords: rare yet; hunter syndrome; syndrome rare; etiology ... See more keywords
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C2-C3 Anterior Cervical Arthrodesis in the Treatment of Bow Hunter's Syndrome: Case Report and Review of the Literature.

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Published in 2018 at "World neurosurgery"

DOI: 10.1016/j.wneu.2018.07.129

Abstract: BACKGROUND Bow hunter's syndrome (BHS) or rotational vertebral artery occlusion is a rare syndrome of vertebrobasilar insufficiency due to compression or occlusion of the contralateral vertebral artery with cervical axial rotation. Compression at the C2-C3… read more here.

Keywords: artery; hunter syndrome; treatment; case ... See more keywords
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Bow Hunter's Syndrome: Surgical Vertebral Artery Decompression Guided by Dynamic Intraoperative Angiography.

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Published in 2018 at "World neurosurgery"

DOI: 10.1016/j.wneu.2018.07.152

Abstract: BACKGROUND Bow hunter's syndrome is a symptomatic vertebrobasilar insufficiency resulting from a rotational stenosis or occlusion of a dominant vertebral artery (VA). The VA is dynamically compressed by cervical osteoarthritis (discovertebral structure or osteophytes) during… read more here.

Keywords: decompression; hunter syndrome; angiography; dynamic intraoperative ... See more keywords
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Response to: Investigating the neurobehavioral symptoms of neuronopathic Hunter syndrome

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Published in 2020 at "Molecular Genetics and Metabolism Reports"

DOI: 10.1016/j.ymgmr.2020.100570

Abstract: We appreciate the opportunity to respond to the points Mr. Grant raised in his Letter to the Editor [1]. Neurobehavioral symptoms in neuronopathic Hunter syndrome are complex, difficult to manage, and incompletely understood. Our study… read more here.

Keywords: neuronopathic hunter; hunter syndrome; study; neurobehavioral symptoms ... See more keywords
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Presentation and treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome)

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Published in 2017 at "Expert Opinion on Orphan Drugs"

DOI: 10.1080/21678707.2017.1296761

Abstract: ABSTRACT Introduction: Mucopolysaccharidosis Type II (MPS II; Hunter syndrome) is an X- linked lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS). IDS deficiency leads to primary accumulation of dermatan sulfate (DS) and heparan… read more here.

Keywords: mucopolysaccharidosis type; hunter syndrome; treatment; mps hunter ... See more keywords
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Endoplasmic Reticulum and Lysosomal Quality Control of Four Nonsense Mutants of Iduronate 2-Sulfatase Linked to Hunter's Syndrome.

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Published in 2020 at "DNA and cell biology"

DOI: 10.1089/dna.2019.5221

Abstract: Hunter's syndrome (mucopolysaccharidosis type II) is a rare X-linked lysosomal storage disorder caused by mutations in the iduronate-2-sulfatase (IDS) gene. Motivated by the case of a child affected by this syndrome, we compared the intracellular… read more here.

Keywords: hunter syndrome; lysosomal quality; control; quality control ... See more keywords
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1186: SEVERE RESPIRATORY FAILURE IN A PATIENT WITH HUNTER SYNDROME

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Published in 2019 at "Critical Care Medicine"

DOI: 10.1097/01.ccm.0000551930.81980.d9

Abstract: Learning Objectives: Hunter syndrome (MPS II) is a rare genetic disorder with accumulation of glycosaminoglycan resulting in short stature, hepatosplenomegaly, joint stiffness, cardiac valvular disease and airway involvement including macroglossia, tracheal deformities, laryngomalacia, and obstructive… read more here.

Keywords: patient; hunter syndrome; failure patient; respiratory failure ... See more keywords
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Hunter syndrome with persistent thrombocytopenia

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Published in 2019 at "BMJ Case Reports"

DOI: 10.1136/bcr-2018-226518

Abstract: A case of Hunter syndrome, 6½-year-old boy presented with persistent thrombocytopenia and bleeding diathesis. However, cytopenia is not a usual presentation in patients with mucopolysaccharidosis II. After ruling out other causes of severe thrombocytopenia, a… read more here.

Keywords: ebv infection; persistent thrombocytopenia; thrombocytopenia; hunter syndrome ... See more keywords
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Challenges of anaesthetising a child with Bow Hunter’s syndrome and dilated cardiomyopathy for occipitocervical fusion

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Published in 2023 at "BMJ Case Reports"

DOI: 10.1136/bcr-2022-253834

Abstract: Paediatric Bow Hunter’s syndrome (BHS), or rotational vertebral artery syndrome, is a rare cause of posterior circulation insufficiency in children. It results from mechanical obstruction of the vertebral artery by the transverse process of cervical… read more here.

Keywords: hunter syndrome; syndrome; bow hunter; dilated cardiomyopathy ... See more keywords