Mosaicism in pseudoachondroplasia.

Pseudoachondroplasia (PSACH) is a spondylo-epi-metaphyseal dysplasia characterized by disproportionate short stature, generalized ligamentous laxity, and precocious osteoarthritis. PSACH is caused by mutations in the cartilage oligomeric matrix protein (COMP) gene, which codes for a noncollagenous protein expressed in the territorial matrix of chondrocytes. Autosomal dominant inheritance has been demonstrated in many families; however, autosomal recessive inheritance has been suggested in some severe familial cases. Alternatively, germline/somatic mosaicism has been proposed and is credible, since it has been shown that dominantly inherited and sporadic cases of PSACH are caused by the same genetic defect. Here, we present evidence demonstrating somatic mosaicism in two PSACH families that were originally considered to represent autosomal recessive inheritance. The results of this study suggest that autosomal recessive inheritance is unlikely and all cases of PSACH should be studied for mutations in COMP.

Identification of twelve mutations in cartilage oligomeric matrix protein (COMP) in patients with pseudoachondroplasia.

Pseudoachondroplasia (PSACH) is an autosomal dominant dwarfing condition characterized by disproportionate short stature, joint laxity, and early-onset osteoarthrosis. PSACH is caused by mutations in the gene encoding cartilage oligomeric matrix protein (COMP). We are reporting on mutations in COMP in 12 patients with PSACH, including ten novel mutations. Eleven of the mutations are in exons 17A, 17B, and 18A, which encode the calcium-binding domains, and one mutation is in exon 19, which encodes part of the carboxy-terminal globular domain. Two of the mutations identified are the common delGAC(1430-1444) in exon 17B, which accounts for 36% of identified PSACH mutations. This report increases the range of mutations in COMP that cause PSACH and provides additional evidence for the importance of the calcium-binding domains and the globular domain to the function of COMP.

Infant cardiac fibroma with clonal t(1;9)(q32;q22) and review of benign fibrous tissue cytogenetics.

Cardiac fibromas are rare lesions which occur more frequently in infants and children than in the adult population. These tumors are nonmalignant proliferations of connective tissue most often found in the left ventricular myocardium or septal myocardium. No cytogenetic studies of cardiac fibromas have been reported. We report a case of an infant with a subepicardial tumor in whom the cytogenetic analysis showed a clonal reciprocal translocation, 46,XY,t(1;9)(q32;q22),inv(9)(p11q12)c. We review the literature regarding cardiac fibromas and briefly discuss the cytogenetics of benign fibrous neoplasias.

Tissue reaction to suture materials in infected surgical wounds--a histopathologic evaluation.

Suture materials are foreign bodies which induce and prolong tissue reaction in the wound area. Cellular responses to infected wounds containing 7 suture materials (braided polyglycolic acid [BPGA, Dexon], multifilament stainless steel, monofilament nylon, black braided silk, braided Dacron [Mersilene], and plain and chromic catgut) were studied at 6, 10, 20, and 40 days. Cellular reaction varied with different suture materials. In general, neutrophils were the predominant cells in acute infection, but later, macrophages and fibroblasts predominated. Occasionally, plasma cells, lymphocytes, eosinophils, and giant cells were present. In the infected wounds with implants of plain catgut, chromic catgut, silk, and braided Dacron, there were large numbers of neutrophils even in chronic implantation, indicating persistence of local infection. With nylon, steel, and BPGA, the number of neutrophils rapidly decreased. Although BPGA induced intense acute reaction, the response was mild in chronic implantation. It appeared to be absorbed more slowly than plain or chromic catgut, and tissue reaction was minimal in the absorption stages. A reaction similar to the Splendore-Hoeppli phenomenon was seen around multifilament silk strands in chronic stages of implantation.

Further studies with polyglycolic acid (Dexon) and other sutures in infected experimental wounds.

Seven suture materials (braided polyglycolic acid [BPGA, Dexon], multifilament stainless steel, monofilament nylon, black braided silk, braided Dacron (BD, Mersilene], and plain and chromic catgut) were implanted in surgical wounds which were inoculated with 3 dilutions of Staphylococcus aureus. The degree of swelling was measured at 6, 10, 20, and 40 days. Monofilament nylon and multifilament steel produced the least amount of swelling; plain and chromic catgut produced the most. The BPGA, BD, and silk caused swellings that were intermediate in degree. In chronic implantations, inflammatory reactions to the various suture materials differed from those occurring soon after implantation. Response to steel and nylon remained minimal; that to silk was gradual, but overall became the most severe. There was slightly less response with BD. The catguts varied little from each other in their responses. Intense reaction was induced by BPGA in the early stages, but the response was mild in chronic implantations.

Evaluation of gamma radiation therapy in experimentally induced hemorrhagic pancreatitis in dogs.

Acute bile-trypsin pancreatitis was induced in two groups of six dogs each. One group was given supportive treatment only; the second group was treated with irradiation of the pancreas (400 rad). A third group of six dogs was irradiated, but pancreatitis was not induced. A 13-fold increase in survival time was observed in the dogs with pancreatitis which had been irradiated. Irradiation alone was found to reduce the volume of pancreatic secretion with a relative increase in trypsin content. Modification of the inflammatory reaction by irradiation and reduction in pancreatic secretion probably account for the therapeutic effect.