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Hunter Syndrome (hunter + syndrome)
Selected AbstractsReversal of pathogenic mutations in Hunter syndrome by an RNA-editing-like mechanism?HUMAN MUTATION, Issue 4 2010Llu˙sa Vilageliu No abstract is available for this article. [source] Natural history of extensive Mongolian spots in mucopolysaccharidosis type II (Hunter syndrome): a survey among 52 Japanese patientsJOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY & VENEREOLOGY, Issue 8 2007T Ochiai Abstract Background, Recent reports have shown a correlation between extensive Mongolian spots and mucopolysaccharidosis type II (Hunter syndrome). However, a statistical survey of the incidence and natural history of extensive Mongolian spots among the patients with Hunter syndrome is lacking. Objectives, To determine the prevalence of extensive Mongolian spots, to determine the natural course of the spots according to age in Japanese patients with Hunter syndrome, and to compare them with the results obtained from the patients' brothers who did not have Hunter syndrome. Patients/Methods, Fifty-two males with Hunter syndrome aged 3 to 40 years were studied. Twenty-five patients were examined in two clinics to determine the existence and characteristics of the spots. We interviewed their families about the spots in their neonates and the natural course of the spots according to their ages. The same survey was done among another 27 patients using a mailed questionnaire to their families. As control, we investigated 21 brothers of the patients by a mailed questionnaire to their families. Results, The extensive Mongolian spots are identified in almost all the infants with Hunter syndrome and disappear extremely later in their life. The lesions had a high incidence of deep-blue hyperpigmentation. Regardless of age, the overall incidence was 78%. All of the brothers who did not have Hunter syndrome had common-type Mongolian spots in neonates, which regressed during their childhood. Conclusion, Our results confirm a strong correlation between extensive Mongolian spots and Hunter syndrome for the Japanese population. The presence of extensive Mongolian blue spots should alert the physician to the possibility of Hunter syndrome. [source] Reduction of GAG storage in MPS II mouse model following implantation of encapsulated recombinant myoblastsTHE JOURNAL OF GENE MEDICINE, Issue 11 2005Adelaide Friso Abstract Background Hunter syndrome, mucopolysaccharidosis type II (MPS II), is a X-linked inherited disorder caused by the deficiency of the enzyme iduronate-2-sulfatase (IDS), involved in the lysosomal catabolism of the glycosaminoglycans (GAG) dermatan and heparan sulfate. Such a deficiency leads to the intracellular accumulation of undegraded GAG and eventually to a progressive severe clinical pattern. Many attempts have been made in the last two to three decades to identify possible therapeutic strategies for the disorder, including gene therapy and somatic cell therapy. Methods In this study we evaluated the intraperitoneal implantation of allogeneic myoblasts over-expressing IDS, enclosed in alginate microcapsules, in the MPS II mouse model. Animals were monitored for 8 weeks post-implantation, during which plasma and tissue IDS levels, as well as tissue and urinary GAG contents, were measured. Results and conclusions Induced enzyme activity occurred both in the plasma and in the different tissues analyzed. A significant decrease in urinary undegraded GAG between the fourth and the sixth week of treatment was observed. Moreover, a biochemical reduction of GAG deposits was measured 8 weeks after treatment in the liver and kidney, on average 30 and 38%, respectively, while in the spleen GAG levels were almost normalized. Finally, the therapeutic effect was confirmed by histolochemical examination of the same tissues. Such effects were obtained following implantation of about 1.5 × 106 recombinant cells/animal. Taken together, these results represent a clear evidence of the therapeutic efficacy of this strategy in the MPS II mouse model, and encourage further evaluation of this approach for potential treatment of human beings. Copyright © 2005 John Wiley & Sons, Ltd. [source] Phenotypic variation in patients with severe Hunter syndromeACTA PAEDIATRICA, Issue 2002M Dasouki No abstract is available for this article. [source] Hunter's syndrome and buphthalmos in a girl: an unusual ophthalmic associationACTA OPHTHALMOLOGICA, Issue 2009S SETHI Purpose To report an unusual ophthalmic presentation of a case of Hunter's syndrome/MPS II. Methods A sixteen-year-old girl presented to us with total loss of vision and forward protrusion OU since early childhood. Detailed examination, including slit lamp biomicroscopy, Intra ocular pressure (IOP) and fundoscopy was carried out. Thorough systemic evaluation including Computed Tomography (CT), metabolic and genetic analysis was undertaken in collaboration with internists. Results Characteristic facies, detection of glycosaminoglycan (GAG) variants in urine (chondroitin sulfate B and heparin sulfate) and iduronate-2-sulphatase activity in fibroblasts/leucocytes confirmed the diagnosis of MPS II. Child had severe photophobia but with no perception of light OU. OU buphthalmos with Haab's striae was noted, making a clear view of the fundus difficult. IOP OU was elevated, and 90D slit lamp biomicroscopy revealed a total glaucomatous optic atrophy in both eyes. On CT there was thickening and edema of preseptal and periorbital soft tissue with marked thinning of the optic nerves with prominent perineural CSF sleeves, indicative of marked optic atrophy. Conclusion Glaucoma is a known association of Hurler's, Scheie's and Maroteaux-Lamy syndromes but not Hunter's. In fact, there is only one report of suspected angle closure glaucoma in MPS II. Buphthalmos is not a likely presentation as the sclera in these patients is known to be thickened due to deposition of GAG. To the best of our knowledge, this is the first case report of buphthalmos in association with MPS II. The importance of a meticulous examination in this subset of patients cannot be overemphasised. An appropriate and timely intervention may result in a better quality of life for them. [source] | |||||||||||||