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5.
Am J Med Genet A ; 146A(24): 3173-80, 2008 Dec 15.
Article in English | MEDLINE | ID: mdl-19012351

ABSTRACT

The combination of intracranial calcification and polymicrogyria is usually seen in the context of intrauterine infection, most frequently due to cytomegalovirus. Rare familial occurrences have been reported. We describe five patients-two male-female sibling pairs, one pair born to consanguineous parents, and an unrelated female-with a distinct pattern of band-like intracranial calcification associated with simplified gyration and polymicrogyria. Clinical features include severe post-natal microcephaly, seizures and profound developmental arrest. Testing for infectious agents was negative. We consider that these children have the same recognizable "pseudo-TORCH" phenotype inherited as an autosomal recessive trait.


Subject(s)
Abnormalities, Multiple/pathology , Brain Diseases/complications , Calcinosis/complications , Malformations of Cortical Development/complications , Brain/pathology , Child , Fatal Outcome , Female , Humans , Infant , Magnetic Resonance Imaging , Male , Phenotype , Postmortem Changes , Tomography, X-Ray Computed
6.
Am J Med Genet A ; 129A(3): 303-7, 2004 Sep 01.
Article in English | MEDLINE | ID: mdl-15326633

ABSTRACT

We report on three children from two families with Aicardi-Goutières syndrome. All three had congenital glaucoma. Additionally, neuroimaging demonstrated significant brain stem atrophy in the affected sib-pair. These features have not been previously described in Aicardi-Goutières syndrome and expand the phenotypic spectrum.


Subject(s)
Abnormalities, Multiple/pathology , Brain Stem/pathology , Glaucoma/pathology , Neurodegenerative Diseases/pathology , Atrophy , Brain Stem/diagnostic imaging , Fatal Outcome , Female , Humans , Infant , Male , Tomography, X-Ray Computed
7.
NMR Biomed ; 13(8): 449-59, 2000 Dec.
Article in English | MEDLINE | ID: mdl-11252030

ABSTRACT

A study was undertaken to determine if the vascular characteristics measured by dynamic contrast-enhanced magnetic resonance imaging (primarily permeability surface area product and extracellular-extravascular tissue volume fraction) would be beneficial in explaining the inter-lesion metabolic heterogeneity displayed by human intracranial tumours. Magnetic resonance spectroscopy was carried out using a single-voxel STEAM sequence and dynamic imaging was carried out using a combination of pre-contrast proton density-weighted FSPGR images (to remove the influence of native tissue T1), bolus injection of Gd-DTPA and subsequent T1-weighted FSPGR dynamic imaging. A two-compartment pharmacokinetic model was employed to determine vascular characteristics. Results obtained from 12 meningiomas suggest a possible correlation between the level of lipids/macromolecules and permeability surface area product, although the confounding issue of extra-voxel contamination arising from lipids in the scalp and skull marrow cannot be ruled out in the more superficial lesions. Results obtained from 11 gliomas (four low and seven high grade) demonstrate that permeability surface area product is not specific for the range of vascular characteristics and metabolite profiles observed in gliomas and is therefore unable to explain metabolic heterogeneity in these lesions.


Subject(s)
Brain Neoplasms/diagnosis , Magnetic Resonance Imaging/methods , Magnetic Resonance Spectroscopy/methods , Contrast Media/metabolism , Humans
8.
Vasa ; 18(4): 301-3, 1989.
Article in English | MEDLINE | ID: mdl-2609736

ABSTRACT

The diagnostic quality of intravenous subtraction aorto-iliac arteriograms was assessed in 60 patients randomly allocated to receive either hyoscine butylbromide or glucagon as an inhibitor of bowel peristalsis. The examinations in patients receiving hyoscine butylbromide showed statistically significantly less artefact due to bowel movement than those receiving glucagon. Furthermore, glucagon is 20 times more expensive than hyoscine butylbromide. Neither drug produced significant ECG changes or side effects. We conclude that intravenous hyoscine butylbromide should be used routinely, except where specifically contra-indicated, in all patients undergoing IV-DSA of the aorto-iliac segments.


Subject(s)
Angiography, Digital Subtraction , Butylscopolammonium Bromide/pharmacology , Glucagon/pharmacology , Scopolamine Derivatives/pharmacology , Adolescent , Adult , Aged , Aged, 80 and over , Arrhythmias, Cardiac/diagnosis , Coronary Disease/diagnosis , Electrocardiography , Female , Humans , Male , Middle Aged , Random Allocation
9.
J Antimicrob Chemother ; 21(5): 633-5, 1988 May.
Article in English | MEDLINE | ID: mdl-3391862

ABSTRACT

This study assessed the potential pharmacokinetic interaction between rifampicin and ketoconazole, two drugs used to treat the increasingly common combination of Mycobacterium tuberculosis and Candida albicans infection in AIDS patients. The peak plasma rifampicin concentrations in six healthy male subjects were not altered when taken in conjunction with ketoconazole. However, the peak plasma ketoconazole levels were significantly diminished when taken in conjunction with rifampicin, compared to when taken alone (P less than 0.015). The mean area under the curve (AUC) for ketoconazole was significantly diminished when taken with oral or intravenous rifampicin (P less than 0.001).


Subject(s)
Ketoconazole/pharmacokinetics , Rifampin/pharmacokinetics , Drug Interactions , Humans , Ketoconazole/administration & dosage , Male , Opportunistic Infections/blood , Opportunistic Infections/drug therapy , Rifampin/administration & dosage
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