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  5. Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά) - ΙΑΤ
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Please use this identifier to cite or link to this item: https://olympias.lib.uoi.gr/jspui/handle/123456789/19907
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dc.contributor.authorCaruso, P. A.en
dc.contributor.authorPoussaint, T. Y.en
dc.contributor.authorTzika, A. A.en
dc.contributor.authorZurakowski, D.en
dc.contributor.authorAstrakas, L. G.en
dc.contributor.authorElias, E. R.en
dc.contributor.authorBay, C.en
dc.contributor.authorIrons, M. B.en
dc.date.accessioned2015-11-24T19:03:31Z-
dc.date.available2015-11-24T19:03:31Z-
dc.identifier.issn0028-3940-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/19907-
dc.rightsDefault Licence-
dc.subjectAdolescenten
dc.subjectAdulten
dc.subjectBrain/*abnormalities/*radiography/radionuclide imagingen
dc.subjectChilden
dc.subjectChild, Preschoolen
dc.subjectCholesterol/blooden
dc.subjectFemaleen
dc.subjectHumansen
dc.subjectHydrogen/diagnostic useen
dc.subjectInfanten
dc.subjectInfant, Newbornen
dc.subjectMagnetic Resonance Imagingen
dc.subjectMagnetic Resonance Spectroscopy/*methodsen
dc.subjectMaleen
dc.subjectRetrospective Studiesen
dc.subjectSeverity of Illness Indexen
dc.subjectSmith-Lemli-Opitz Syndrome/*diagnosisen
dc.titleMRI and 1H MRS findings in Smith-Lemli-Opitz syndromeen
heal.typejournalArticle-
heal.type.enJournal articleen
heal.type.elΆρθρο Περιοδικούel
heal.identifier.primary10.1007/s00234-003-1110-1-
heal.identifier.secondaryhttp://www.ncbi.nlm.nih.gov/pubmed/14605787-
heal.identifier.secondaryhttp://www.springerlink.com/content/ywx3cnm3hwa9grfm/fulltext.pdf-
heal.languageen-
heal.accesscampus-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικήςel
heal.publicationDate2004-
heal.abstractSmith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder characterized by a defect in cholesterol biosynthesis, associated with mental retardation and multisystem structural abnormalities. This study investigated the prevalence of congenital CNS abnormalities by MRI in a large series of patients with SLOS and the correlation of the clinical and biochemical findings with the results of MRI and 1H MRS. Eighteen patients were studied; all underwent MRI of the brain, and 16 had 1H MRS of the cerebral white matter. The ratios choline:NAA, lipid:NAA, and lipid:choline metabolite were found to be correlated with the clinical degree of disease severity, serum total sterol ratios (cholesterol/cholesterol + 7-dehydrocholesterol + 8-dehydrocholesterol) and in two cases with the effect of cholesterol therapy. Abnormal CNS findings were noted in five patients, including callosal abnormalities (n = 4), Dandy-Walker variant (n = 1), and arachnoid cyst (n = 1). Holoprosencephaly was noted in one patient with a prevalence of 6%. Choline:NAA was elevated in seven patients. There was a statistically significant positive correlation between the lipid:choline ratio and the serum cholesterol precursor, 8-dehydrocholesterol. In two patients 1H MRS demonstrated abnormally elevated lipids prior to cholesterol therapy, which improved on therapy. The use of MRI and 1H MRS is an effective way to demonstrate brain structural abnormalities in patients with SLOS and may prove to be an effective method for the assessment of the effects of cholesterol replacement therapy in the brain.en
heal.journalNameNeuroradiologyen
heal.journalTypepeer-reviewed-
heal.fullTextAvailabilityTRUE-
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