Clinical, cellular, microscopic, and ultrastructural studies of a case of fibrogenesis imperfecta ossium.

Fibrogenesis imperfecta ossium is a rare disorder of bone usually characterized by marked osteopenia and associated with variable osteoporosis and osteosclerosis, changing over time. Histological examination shows that newly formed collagen is abnormal, lacking birefringence when examined by polarized light. The case presented demonstrates these features and, in addition, a previously undocumented finding of a persistent marked reduction of the serum C3 and C4.

Femoral Neck X-Ray Absorptiometry Parameters and Peripheral Quantitative Computer Tomography Tibial Cortical Density Predict Survival in Dialysis Patients.

Background: Low bone mineral density (BMD) is a known independent predictor of mortality in the general elderly population. However, studies in patients with end-stage renal disease (ESRD) are limited. The present study evaluated mortality during long-term follow-up in a population of patients having dialysis for ESRD, in whom BMD was also measured.

Bone Mineral Density in Postmenopausal Women Heterozygous for the C282Y HFE Mutation.

Mutations in the HFE gene may be associated with increased tissue iron stores reflected in an elevated serum ferritin. With homozygous mutation C282Y, the increase in serum ferritin may be associated with tissue damage in the liver, pancreas, and pituitary and with a reduced bone mineral density. With heterozygous mutation C282Y, the degree of iron retention is less but information relating to how a heterozygous C282Y mutation might impact bone mineral density is uncertain.

Medullary thyroid carcinoma presenting with an initial CEA elevation.

Background: Carcinoembryonic antigen (CEA) is a tumour marker commonly associated with gastrointestinal malignancy. Patients presenting with an elevated CEA will therefore often undergo extensive investigations in order to elucidate an underlying gastrointestinal malignancy that may not be clinically apparent. However the GI tract is not the only source of CEA elevation.

Hematologic and urinary excretion anomalies in patients with chronic fatigue syndrome.

Patients with chronic fatigue syndrome (CFS) have a broad and variable spectrum of signs and symptoms with variable onsets. This report outlines the results of a single-blind, cross-sectional research project that extensively investigated a large cohort of 100 CFS patients and 82 non fatigued control subjects with the aim of performing a case-control evaluation of alterations in standard blood parameters and urinary amino and organic acid excretion profiles. Blood biochemistry and full blood counts were unremarkable and fell within normal laboratory ranges.

Clinical case seminar: Fibroblast growth factor 23: a new clinical marker for oncogenic osteomalacia.

The phosphate-wasting condition, oncogenic osteomalacia, is problematic to diagnose and manage clinically due to difficulty in locating the causative tumor. Fibroblast growth factor 23 (FGF23) has recently been implicated in the pathogenesis of oncogenic osteomalacia. In this case the patient presented with clinical features typical of oncogenic osteomalacia.

Vitamin D supplementation and bone mineral density in early postmenopausal women.

Background: Increased vitamin D intake may preserve or increase bone mineral density (BMD) in older persons.

Objective: A 2-y double-blind study was undertaken to determine whether weekly administration of 10 000 units of vitamin D(2) maintained or increased BMD in younger postmenopausal women more efficiently than did calcium supplements alone.

Design: One hundred eighty-seven women who were >or= 1 y postmenopausal were randomly assigned to take either 1000 mg Ca/d after the evening meal or 1000 mg Ca/d plus 10 000 U vitamin D(2)/wk in a double-blind, placebo-controlled format.

Increase in presentations and procedure rates for hyperparathyroidism in Northern Sydney and New South Wales.

Objective: To examine changes in presentation of primary hyperparathyroidism and rates of parathyroidectomy in Northern Sydney (the Northern Sydney Area Heath Service) and New South Wales (NSW).

Design: Retrospective case series January 1962 - December 2001 and audit of the NSW Department of Health inpatient database (1993-1999).

Setting: University of Sydney Endocrine Surgical Unit, Royal North Shore Hospital.