Ultrasound evaluation of the hips and histological correlations in Ellis van Creveld Syndrome.

Ellis van Creveld Syndrome (EVCs) is a chondroectodermal dysplasia. Its clinical picture includes a meso-acromielic limb dwarfism with normal spine, involvement of the teeth, hair and nails, polydactyly of the hands and feet and heart malformations. Ultrasonography compared with histology were used in the present study to evaluate neo-natal ultrasonographic hip development and acetabular hysto-morphology in EVCs. A flat and abnormal acetabulum with small beta angles and non measurable alfa angles were detected at repeated ultrasonographic evaluations at birth and at four months, with irregular echoes spiking from the inner part of the sockets; the acetabular cavities contained large early ossified proximal femoral epiphyses. Histology was obtained from phal-angeal growth plates of a surgically removed extradigit, stained with alcian blue/PAS and E.E.. The growth plates showed a distorted anatomy with irregular column formation and abnormal distribution of the hypetrophic cells. Ultrasound morphology corresponded to the altered growth plates seen at histology. Early detection of an abnormally early developed proximal femoral ossification centre could be considered a diagnostic feature of the syndrome especially when present in the prenatal period. (Hip International 2004; 14: 39-43).

A comparative study on biochemical markers of bone collagen breakdown in post-menopausal women.

The aim of this study was to compare urinary galactosylhydroxylysine (GHyl) and deoxypyridinoline (d-Pyr) as biochemical markers of bone resorption in post-menopausal women treated and untreated with estrogen and cyclic etidronate. Fasting urinary GHyl, D-Pyr, pyridinoline, serum osteocalcin and total alkaline phosphatase were measured in three subgroups, i.e. post-menopausal women undergoing hormone replacement therapy, untreated post-menopausal women and post-menopausal women with low BMD treated with disodium etidronate. The results indicated that GHyl did not significantly discriminate between untreated post-menopausal women and estrogen replated ones unless an osteoporotic untreated group was selected. d-Pyr and GHyl showed similar performances when their values after bisphosphonate treatment were compared to those found in untreated post-menopausal women, thus suggesting that both markers were equal in their ability to detect the bone response to cyclic etidronate administration. This observation further proves the statement that GHyl is prone to confounding factors under estrogen therapy but it is adequate as is d-Pyr in monitoring the bone response to bisphosphonate treatment.

Effect of an oral calcium load on urinary markers of collagen breakdown.

Aim of this study was to investigate whether osteoclast activity changes as a consequence of even mild physiological perturbation of plasma calcium as such induced by an oral calcium load. Osteoclast activity was determined indirectly by measuring, in spot urines at two and four hours after oral calcium load, the urinary excretion of hydroxylysylpyridinoline (Pyr), deoxylysylpyridinoline (D-Pyr), hydroxyproline (Hyp) and galactosyl-hydroxylysine (GHyl). The occurrence of the metabolic perturbation of plasma calcium homeostasis was assessed by measuring three indexes: i.e. calcemic response, PTH reduction and calciuric response at times following oral calcium loading. A significant fall of urinary D-Pyr and Pyr followed the perturbation of calcium homeostasis induced by the oral calcium load in two groups of healthy young adult and postmenopausal women. The highest mean percent reduction was observed for D-Pyr and was quantitatively similar in the two groups. Since urinary D-Pyr is the most specific bone resorption marker, it may be inferred that the perturbation of plasma calcium homeostasis induced by an oral calcium load is able to acutely inhibit osteoclast activity. This supports the view that osteoclasts are involved in the short-term error correction of plasma calcium.