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Biomedical subjects

Vivienne Tobias

Publications and source records attributed to Vivienne Tobias.

4 recordsLinked to original sources
PubMed2005

Liver iron concentration and fibrosis in a cohort of transfusion-dependent patients on long-term desferrioxamine therapy.

Secondary iron overload is associated with significant mortality and morbidity. Although new, less invasive techniques are becoming available, the most acceptable and readily accessible way to assess iron overload is to measure hepatic iron by liver biopsy. In this study, we report on serial liver biopsies (at least 2) in a cohort of transfusion-dependent patients (49) on long-term desferrioxamine treatment. There was no significant change in liver iron concentrations (LIC) even in the medication-compliant patients, although there was an upward trend (not statistically significant) in the poorly compliant patients. Fibrosis was present in both HCV RNA-positive and -negative patients, but was more common in positive patients and there was also a significant relationship between fibrosis and hepatic iron concentration. Liver iron levels appear to be maintained in patients who are compliant to desferrioxamine treatment, but overall there is little evidence of significant improvement in liver iron in these patients and in the group as a whole.

Adolescent↗
PubMed2003

Ependymoma.

INTRODUCTION: The management of a patient with an ependymoma is controversial. Although the necessity for a multi-disciplined approach is accepted, the exact roles for all disciplines are poorly defined. REVIEW: This review article examines the current status of histopathological and cytogenetic diagnosis, surgical, chemotherapeutic and radiotherapeutic treatment and future directions.

Brain Neoplasms↗
PubMed2003

Reversible metaphyseal dysplasia, a novel bone phenotype, in two unrelated children with autoimmunepolyendocrinopathy-candidiasis-ectodermal dystrophy: clinical and molecular studies.

We report the association of an undescribed, reversible metaphyseal dysplasia (RMD) with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in two patients, one homozygous and one heterozygous for a 13-bp deletion in exon 8 of the autoimmune regulator (AIRE) gene. One patient also had a novel deletion in exon 6, resulting in a frameshift mutation and introduction of a STOP codon in exon 10. Their APECED phenotypes differed, but both patients developed progressive skeletal deformities and growth failure from early childhood. Radiological examination suggested a generalized abnormality of endochondral ossification, with irregular, flared, radioopaque regions in the metaphyses, subjacent to the growth plates. Histopathology in patient 1 showed islands of calcified cartilage within bone, consistent with impaired coupling of cartilage resorption with vascular invasion and ossification. Despite discordance for puberty, both patients experienced radiological resolution of their bone disease in their mid-teens, with improvement in histopathology in patient 1. RMD may constitute a rare phenotypic variation of APECED, possibly resulting from autoimmunity directed against skeletal proteins. We also demonstrated AIRE expression in chondrocytes derived from human fetal growth plates, primary culture of human chondrocytes, and two chondrosarcoma cell lines, suggesting a potential role for abnormal AIRE expression in the development of RMD.

Adult↗