Hunter syndrome
Hunter Syndrome
... of Hunter syndrome aimed to explore etiology, incidence, clinical manifestations, diagnosis and treatment by reviewing recent ...literatures. Hunter syndrome (mucopolysaccharidosis II: MPS II) ...
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Validation of the shortened Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS)
... The Hunter Syndrome-Functional Outcomes for Clin- ical Understanding Scale (HS-FOCUS) multidomain questionnaire was designed to evaluate the limitations in physical functioning and daily activities of ...
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Closed Meningo(encephalo)cele: A New Feature in Hunter Syndrome
... Fig 2. Twenty-year-old patient with Hunter syndrome, attenuated phenotype syndrome. A and C, 12-year-old patient with Hunter syndrome, attenuated phenotype A and B. Sagittal T1-weighted ...
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Videolaryngoscope-Assisted Fibreoptic Tracheal Intubation in a Young Adolescent with Hunter Syndrome for Posterior Cervical Fusion
... This patient had numerous predictors of difficult airway management including large tongue, small mandible, limited mouth opening, restricted neck movement, obstructive sleep apnoea and a history of failed intubation ...
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The impact of Hunter syndrome (mucopolysaccharidosis type II) on health-related quality of life
... The Hunter Syndrome-Functional Outcomes for Clinical Understanding Scale (HS-FOCUS) was developed to capture the impact of MPS II on function [unpublished ...
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Development of idursulfase therapy for mucopolysaccharidosis type II (Hunter syndrome): the past, the present and the future
... II; Hunter syndrome; OMIM 309900) is a rare, multisystemic, progressive lysosomal storage disease caused by deficient activity of the iduronate-2-sulfatase (I2S) ...
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Clinical, biochemical and molecular characteristics of Filipino patients with mucopolysaccharidosis type II - Hunter syndrome
... of Hunter syndrome among physicians and that there should be a heightened suspicion among them for the characteristic signs and symptoms so that delay in diag- nosis can be ...with Hunter ...
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Perioperative airway management for aortic valve replacement in an adult with mucopolysaccharidosis type II (Hunter syndrome)
... We herein report anesthetic management during aortic valve replacement for aortic valve regurgitation in a patient with adult mucopolysaccharidosis type II (MPS type 2) (Hunter syndrome). This disorder is ...
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CNS-directed gene therapy for the treatment of neurologic and somatic mucopolysaccharidosis type II (Hunter syndrome)
... in Hunter syndrome patients (17, ...impaired Hunter syndrome patients via an indwelling intrathecal drug delivery device (IDDD) (NCT00920647, ...
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Diagnosis, quality of life, and treatment of patients with Hunter syndrome in the French healthcare system: a retrospective observational study
... called Hunter syndrome, is a rare X-linked recessive lysosomal storage disease caused by iduronate-2-sulfatase enzyme defi- ciency, leading to accumulation of the glycosaminogly- cans, heparan and dermatan ...
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Recognition and Diagnosis of Mucopolysaccharidosis II (Hunter Syndrome)
... female embryo and is usually a random event that re- sults in the inactivation of the paternal or maternal X chromosome in a somatic cell. Because it is a random event, most females have a mosaic expression of approx- ...
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Multidisciplinary Management of Hunter Syndrome
... Hunter syndrome is a rare, X-linked dis- order that affects multiple organs and systems; therefore, its management re- quires a multidisciplinary ...
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Obstructive Sleep Apnea Syndrome in Children with Mucopolysaccharidoses II (Hunter Syndrome)
... In order to assess the prevalence and dynamics of changes of basic parameters of obstructive sleep apnea syndrome (OSAS) at mucopolysaccharidoses II (MSP II) cardiorespiratory monitoring was performed for 17 ...
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Immunogenicity of idursulfase and clinical outcomes in very young patients (16 months to 7.5 years) with mucopolysaccharidosis II (Hunter syndrome)
... ILS over time by PAb status at the landmark point. B) ILS over time by genotype group. CD/LR , complete deletion/large rearrangement; FS/SSM , frameshift/splice site mutation; ILS , inde[r] ...
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Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter Syndrome)
... In this re- port, we describe the results of a 24-week randomized, single-blinded, active comparator-controlled, phase I/II clinical trial of idursulfase beta designed to evaluate its ef[r] ...
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Circadian transcriptome analysis in human fibroblasts from Hunter syndrome and impact of iduronate-2-sulfatase treatment
... 1000 Spectrophotometer (Thermo Scientific, Barnstead, NH, USA) and further assessed for quality using the Agilent 2100 Bioanalyzer (Santa Clara, CA) prior to li- brary construction. Total RNAs extracted from different ...
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Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know
... Prenatal diagnosis is performed on the most appropri- ate samples, which usually include fresh or cultured chorionic villus samples obtained by villocentesis, usually performed at approximately 12 weeks gestation, or ...
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Current and emerging management options for patients with Morquio A syndrome
... Morquio syndrome requires a system-specific and multidisciplinary approach, often involv- ing primary care physicians, orthopedists, pulmonologist, cardiologists, and ...Hurler syndrome (MPS I), ...
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Molecular analysis of iduronate -2- sulfatase gene in Tunisian patients with mucopolysaccharidosis type II
... This inherited disease may constitute a relatively more important social and economic concern in Tunisia because of the prevalence of first-cousin marriages [11]. Thus, the identification of the IDS mutations causing MPS ...
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Newborn screening in mucopolysaccharidoses
... Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis II (hunter syndrome). Duffey TA, Bell[r] ...
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