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PubMed1981

Paget's disease: improvement of spinal cord dysfunction with diphosphonates and calcitonin.

The clinical and radiographic features of spinal cord dysfunction secondary to Paget's disease are described. Long-term medical management with the use of the diphosphonates, calcitonins and mithramycin resulted in marked and rapid clinical improvements in 8 of 10 of our own patients. These results are comparable to those seen in 19 other patients previously described in the literature, and are also similar to those obtained by surgical treatment. The recurrence rate and mortality (approximately 10%) of surgical treatment suggest that drug treatment now has a place in the management of paraparesis, particularly when this is of gradual onset. Medical management may also provide a valuable adjunct in those cases where surgery is required (e.g. sudden onset of paraparesis). In patients with cord dysfunction, but without significant anatomical compression of the spinal cord, it is suggested that paraparesis may be caused by a "vascular steal" syndrome, a notion which is supported by the rapidity with which drug-induced remission occurs.

Adult↗

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Umbilical vein and placental vessels from newborns with hereditary haemorrhagic telangiectasia type 1 genotype are normal despite reduced expression of endoglin.

Hereditary haemorrhagic telangiectasia, HHT, is an autosomal dominant disorder that affects approximately 1 in 8000 people. HHT1 is associated with mutations in the ENG (Endoglin) gene and with haploinsufficiency. The disorder is characterized by focally dilated vessels, which can lead to arteriovenous malformations and serious complications even in young children. In the current study, umbilical cord and placenta samples from newborns with ENG mutations were analyzed to estimate the level of corresponding protein and look for potential vascular dysplasia. We confirmed, using metabolic labelling and flow cytometry, that endoglin levels were significantly reduced to median values of 47 per cent (range 32-56 per cent) and 58 per cent (46-90 per cent), respectively, in human umbilical vein endothelial cells derived from newborns with ENG mutations (HHT1 group; n=18) relative to samples from newborns shown not to have the familial mutation (non-HHT group). We also quantified the relative expression of endoglin by estimating the endoglin/PECAM-1 staining ratio in tissue sections. We observed significantly lower values in the HHT1 group, compared to the non-HHT group for the umbilical vein (n=9; median 0.6 vs 0.9; ranges 0.2-1.0 and 0.5-1.5) and for placental stem villus vessels (n=9 and 10; median 0.42 vs 0.93; ranges 0.24-0.58 and 0.56-1.18). No differences in the estimated umbilical vein cross-sectional area and in the proportion of vessels present in placental villi were observed in sections from the HHT1 group relative to the non-HHT group. Thus, blood vessels from HHT1 individuals are maintained intact in the umbilical vein and placenta during pregnancy and delivery, despite a significant reduction in endoglin expression.

Antigens, CD↗