Nail-patella syndrome in a spontaneously aborted 18-week fetus: ultrastructural and immunofluorescent study of the kidneys.

Nail-patella syndrome (NPS), hereditary onycho-osteodysplasia, is an autosomal dominant disorder of nail dystrophy, patellar absence or hypoplasia, incomplete elbow extension, conical posterior iliac horns, and nephropathy. We studied the kidneys of an 18-week spontaneously aborted fetus of a mother with the NPS. Ultrastructural examination of the kidney showed thickening of the capillary walls of the glomeruli and mesangium. There was irregular thickening of basement membranes with subendothelial fibrillar electron-dense deposits. Immunofluorescence showed fibrinogen deposition in glomerular basement membranes. Fibrinogen deposition in utero may ultimately lead to glomerular fibrosis and intrabasement membrane collagen deposition as seen in the adult renal lesion of this syndrome. This is the first report of the NPS in which the renal abnormalities have been studied in a fetus. These findings provide support for possible prenatal diagnosis of NPS by intra-uterine kidney biopsy.

Hb south Milwaukee [beta 105 (G7) Leu----Phe]: a newly-identified hemoglobin variant with high oxygen affinity.

Fifteen individuals among four generations of a family of English ancestry demonstrated elevated hemoglobin levels accompanied by leftward-shifted whole blood oxygen equilibrium curves. Five of the affected family members have required phlebotomies for relief of symptoms attributable to erythrocytosis. An abnormal hemoglobin or globin chain could not be isolated, but 43% of the beta chains of the affected individuals contained a Leu----Phe substitution at position 105 (G7). Oxygen equilibrium curves demonstrated a normal Bohr effect but decreased cooperativity.

Secondary oxalosis as a complication of parenteral alimentation in acute renal failure.

Secondary oxalosis is a complication of renal failure. Since oxalate is excreted by the kidney, the severity of oxalate deposition has been directly related to the duration of renal failure. We report a patient with acute renal failure on hemodialysis who received daily ascorbic acid (an oxalate precursor) via parenteral alimentation. He developed widespread secondary oxalosis, which was especially prominent in the kidneys and pancreas. This oxalate burden may have contributed to the complications seen during his hospital course. The provision of ascorbic acid to patients with renal failure should be carefully monitored to avoid accelerated development of secondary oxalosis.

A simple and rapid method for osteoclast identification using a histochemical method for acid phosphatase.

A detailed description of a simple technique for acid phosphatase demonstration in osteoclast cells is presented. The method is short, relatively uninvolved and allows the use of undecalcified bone sections. All materials and chemicals used are commercially available. The sections were stained histochemically using naphthol AS-B1 phosphoric acid as a substrate and counter stained with Mayer's Haematoxylin. Sections prepared by this method showed good results and enabled accurate measurement of osteoclast counts.

Calcium-oxalate-crystal-induced bone disease.

A 13-year-old boy with primary hyperoxaluria and a successful renal allograft developed symptomatic bone disease, hypercalcemia, and hypercalciuria. Transiliac bone biopsy revealed calcium oxalate crystals in the marrow within mononuclear phagocytes and multinucleated giant cells. Deep resorption bays were seen adjacent to these crystal-cell aggregates. Serum 1,25-(OH)2-vitamin D (calcitriol) and iPTH concentrations were low or normal. We suggest that hypercalcemia results from macrophage-mediated bone resorption initiated by Ca oxalate crystal deposition.

Malignant schwannoma: a light microscopic and ultrastructural study.

The light microscopic and ultrastructural features of 3 cases of malignant schwannoma were studied and compared with those of other types of soft-tissue sarcoma. The tumor in 1 of these cases originated in an intercostal nerve and was composed of compactly arranged spindle-shaped tumor cells. The other 2 cases showed osteogenic areas in addition to exhibiting prominent nuclear palisading, focal myxoid changes, and a rosette-like arrangement of tumor cells. The tumor in 1 of these latter cases occurred at the site of a preexisting neurofibroma. The Schwann cell origin of these tumors is strongly supported by the ultrastructural findings of basement membranes and conspicuous intercellular junctions in all 3 cases and dense-core granules in 1.

Surveillance of antibiotics use in a community hospital.

An ongoing system of antibiotic surveillance was initiated in a community hospital. The system was based on the guideline audits of antimicrobial use published by the Veterans Administration Ad Hoc Interdisciplinary Advisory Committee on Antimicrobial Drug Usage. The surveillance is accepted well by the medical staff. It has proved to be cost-effective and educational. A changing pattern of antimicrobial drug use has been recognized that has resulted in decreased antimicrobial drug costs.

Breast carcinoma in a young man.

Breast carcinoma occurred in a 25-year-old man. This is to our knowledge, the seventh reported instance of this extremely rare cancer. Despite its infrequent occurrence, high cure rates can be obtained if it is detected and treated early. Breast masses in young men must not be ignored.