Genetic alterations of the ornithine decarboxylase gene in human colorectal cancers.

Ornithine decarboxylase (ODC), a critical regulatory enzyme for polyamine biosynthesis, is strictly regulated in human cells. Several studies suggested the importance of elevated enzymatic activity and altered biochemical characteristics of ODC in malignant cells. Because mutation of ODC in primary human hepatocellular carcinoma has been reported, we examined whether the genetic alterations, such as mutations or structural alterations of the gene, also account for the alteration of ODC activity in human colorectal cancer. No mutation or structural alteration in the ODC was detected in any of the colorectal tumors and normal tissues examined. These results suggest that a mutation or structural alteration of the ODC may not be involved in human colorectal carcinogenesis.

Long-term follow-up of congenital subluxation of the hip.

SUMMARY: This is a retrospective study of long-term radiographic results for congenital subluxation of the hip (CSH) after closed reduction at the authors' hospital from 1963 to 1980. The age at final follow-up ranged from 14.0 to 33.9 years (average 19.1). The diagnosis of CSH was determined radiographically using Ishida criteria. The center-edge angle (CE angle) and the Sharp angle were measured serially, and the final results were evaluated using Severin classification, and evaluation of avascular necrosis used the classification of Kalamchi and MacEwen. Sixty-nine (26.3%) of 262 hips with CSH were rated as Severin group III or IV. Avascular necrosis was found in 12 hips (4.6%). The CE angle of unaffected hips had strong correlation with that of affected hips. These late results were not satisfactory and indicate that patients with CSH should be followed up at least until skeletal maturity, as is done with complete hip dislocation.

Multiple tumors and a novel E2F-4 mutation. A case report.

Defects in the DNA mismatch-repair are known to cause microsatellite instability (MSI) in hereditary nonpolyposis colorectal cancer (HNPCC) as well as sporadic colorectal cancer (CRC). We previously reported that the E2F-4 gene, which encodes an important transcription factor in cell cycle control, had frequent tumor-specific mutations at the trinucleotide coding region microsatellite (CAG)n in a subset of human sporadic CRC with MSI. We report a 65-year-old man with triple tumors in the abdomen, including colon cancer, stomach cancer, and lipoma of the retroperitoneum, with the analysis of E2F-4 mutation. We report the first case of colon cancer with a homozygous E2F-4 mutation along with a detailed analysis of other cancer related genes as well as a prognosis.

Surgical management of hip dislocation in children with arthrogryposis multiplex congenita.

Arthrogryposis multiplex congenita (AMC) is a rare disease with multiple joint contractures. It is widely believed that bilaterally dislocated hips should not be reduced since movement is satisfactory and open reduction has had poor results. Since 1977 we have performed a new method of open reduction using an extensive anterolateral approach on ten hips in five children with AMC. The mean age at surgery was 31.5 months (17 to 64) and the mean follow-up was 11.8 years (3.8 to 19.5). At the final follow-up all children walked without crutches or canes. Two managed independently, one required a long leg brace and two had short leg braces because of knee and/or foot problems. The clinical results were good in eight hips and fair in two and on the Severin classification seven hips were rated as good (group I or group II). We recommend the extensive anterolateral approach for unilateral or bilateral dislocation of the hip in children with arthrogryposis or developmental dislocation of the hip.

Vancomycin-impregnated polymethylmethacrylate beads for methicillin-resistant Staphylococcus aureus (MRSA) infection: report of two cases.

Two patients with methicillin-resistant Staphylococcus aureus (MRSA) infection were treated with vancomycin (VCM)-impregnated polymethylmethacrylate (PMMA) beads. One patient, who had a history of polycystic kidney and diabetes mellitus, who was receiving hemodialysis due because of non-functional kidney, underwent resection of an intermediate grade chondrosarcoma in the pelvis. MRSA infection developed and curettage of the lesion was performed, but MRSA infection recurred. During the second revision surgery, VCM-impregnated PMMA beads were implanted. MRSA infection has not recurred for 16 months since the implantation of the VCM beads. The second patient had a history of total hip arthroplasty (THA) performed because of coxarthrosis. After the initial surgery, MRSA infection developed, recurring after the second revision surgery for THA. After curettage following removal of the prosthesis, VCM beads were implanted with a spacer composed of VCM-PMMA and a Luque rod. Infection did not recur and THA revision was performed 3 months after the VCM beads implantation. Fifteen months after the last revision surgery, infection has not recurred.

Mutations of E2F-4 trinucleotide repeats in colorectal cancer with microsatellite instability.

Genetic instability at microsatellites in some colorectal cancer (CRC) have been linked to the defects of human mismatch repair genes, but the targets of these defective genes have been largely unknown. We screened CRC specimens for alteration of E2F-4 gene by analyzing both cDNA and genomic sequences along with replication error (RER+) phenotype. Two out of 20 sporadic CRC patients showed RER+ phenotype. We found tumor-specific copy number alteration in 13 consecutive trinucleotide (CAG) repeats within the coding exon of E2F-4 exclusively in these 2 specimens. Thus, E2F-4 may be a clue of the target gene of defective repair genes in CRC with genetic instability in addition to the TGF-beta type II receptor gene.