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Results for “EXOSTOSES, MULTIPLE”

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At least 775 records · Page 43Linked to original sources
PubMed1999

EXTL3/EXTR1 alterations in colorectal cancer cell lines.

We previously demonstrated that metastasis-related tumor suppressor gene(s) may exist on chromosome 8p21-22 on allelotype analysis of early colorectal carcinomas (CRC) with lymph node metastasis. Here, we searched for target gene(s) in this chromosomal region in the UniGene database. The EXTL3 (also called EXTR1) gene was selected as a candidate because of its homology to EXT1 and EXT2, putative tumor suppressor genes. We screened 12 CRC cell lines for mutations by means of polymerase chain reaction (PCR)-single strand conformation polymorphism. Three cell lines showed EXTL3 mutations, all of which were located within exon 3 and caused amino acid substitutions. Reverse transcription-PCR analysis showed that the EXTL3 expression was lacking in 1 of the 12 colorectal cancer cell lines. Although there is still no definitive evidence that EXTL3 is a tumor suppressor gene for CRC, these data suggest that inactivation of the EXTL3 gene may at least offer a selective growth advantage for some CRC cell lines.

Adenomatous Polyposis Coli↗
PubMed1990

Perthes-like disease and the tricho-rhino-phalangeal syndromes: the first black patient.

The TRPS I has been reported in European, Asian, Australian, and North American populations. To the best of our knowledge, this is the first case reported in the black population. Like many patients with this syndrome, it was the presence of "Perthes-like" disease that eventually lead to the diagnosis. This hip complication is very common, and often bilateral. A review of the literature stresses the importance of early diagnosis in that many patients are presenting late with severe degenerative arthritis. When present, "Perthes-like" changes should direct the observer to look for the abnormal hair and facies that are typical of these syndromes. Radiographs of the hands should also be obtained which will usually reveal the characteristic cone-shaped epiphyses. Clinical or radiographic evidence of multiple cartilaginous exostoses is diagnostic of TRPS II in the presence of other stigmata of the tricho-rhino-phalangeal syndrome (TRPS I).

Braces↗
PubMedDate not supplied

Resolution of lameness associated with Scottish fold osteodystrophy following bilateral ostectomies and pantarsal arthrodeses: a case report.

Bilateral hind-limb lameness, associated with tarsal exostoses in a Scottish fold diagnosed as having Scottish fold osteodystrophy, resolved following staged bilateral ostectomies and pantarsal arthrodeses. Degenerative changes in the phalangeal joints of the hind limbs have progressed radiographically, but lameness has not recurred 48 weeks following the second arthrodesis. Additional skeletal abnormalities were detected radiographically in both carpi and in several caudal vertebrae. A partial, left-sided conduction deafness was diagnosed by evaluating brain stem auditory-evoked responses.

Animals↗
PubMed2000

Vascular complications of osteochondromas.

PURPOSE: Osteochondromas are the most common benign tumor of the bone. They are sometimes responsible for vascular complications involving either veins or arteries, principally around the knee. METHODS: We report six cases of such complications. An extensive review of literature through a computerized research was performed. RESULTS: We found 97 cases that were previously reported in the English literature giving sufficient details and providing data on 103 cases for analysis. CONCLUSION: Surgical treatment of vascular complications of osteochondromas is recommended as an urgent procedure to avoid irreversible damages, such as arterial occlusion, embolism, or phlebitis. Prophylactic resection of osteochondromas in the vicinity of a vessel must be performed.

Adult↗
PubMed1975

Ultrastructural abnormalities of the chondrocytes of the growth cartilage of a type of poly-epiphyseal dysplasia with a probable autosomal recessive transmission.

In two cases of polyepiphyseal dysplasia with a probable autosomal recessive transmission, ultrastructural abnormalities were found in the chondrocytes of the tibial epiphyseal growth plate. The largest part of the chondrocytes is occupied by many large vacuoles. They are bounded by a single membrane and have an electron-lucent background in which electron-opaque granules and delicate spiral filaments are visible. The ultrastructural abnormalities suggest a storage disorder probably limited to the chondrocytes.

Epiphyses↗