Biomedical subjects
Publications and source records attributed to G Yeh.
We present a case of a 37-year-old man who sustained a rupture of his left patellar tendon approximately 48 hours after rupturing his right patellar tendon. This temporal pattern illustrates two important aspects of patellar tendon injury-that rupture of the degenerated patellar tendon may occur without any prodromal warning and that it may elude detection even if the patient is examined by several physicians.
Multiple epiphyseal dysplasia (MED) is an inherited chondrodystrophy that results in deformity of articular surfaces and in subsequent degenerative joint disease. The disease is inherited as an autosomal dominant trait with high penetrance. An MED mutation has been mapped by genetic linkage analysis of DNA polymorphisms in a single large pedigree. Close linkage of MED to 130 tested chromosomal markers was ruled out by discordant inheritance patterns. However, strong evidence for linkage of MED to markers in the pericentromeric region of chromosome 19 was obtained. The most closely linked marker was D19S215, with a maximum LOD score of 6.37 at theta = .05. Multipoint linkage analysis indicated that MED is located between D19S212 and D19S215, a map interval of 1.7 cM. Discovery of the map location of MED in this family will facilitate identification of the mutant gene. The closely linked DNA polymorphisms will also provide the means to determine whether other inherited chondrodystrophies have underlying defects in the same gene.
We have studied a family with an autosomal dominant form of multiple epiphyseal dysplasia (MED) inherited through at least 5 generations. Bilateral deformity of the hips with subsequent degenerative arthritis was the most common and most severe change observed in the affected relatives. Abnormalities of the knees, ankles, and shoulders were also noted in some affected individuals. Radiological examination showed changes in affected joints consistent with epiphyseal dysplasia. In early stages, the articular surfaces appeared flattened or irregular in shape. In advanced stages, epiphyseal fragmentation, joint surface erosion, and extensive remodeling were observed. The abnormalities of the epiphyses suggested that the primary defect might be in a structural component of the epiphyseal cartilage matrix. The gene encoding type II collagen (COL2A1) was tested for genetic linkage to MED in this family by restriction fragment length polymorphism (RFLP) analysis. Recombination between COL2A1 and MED was observed, ruling out COL2A1 as the site of the mutation. The genes encoding the 3 chains of type VI collagen were also excluded on the basis of discordant inheritance. The disease in this family is therefore not the result of mutations in the genes encoding type II or type VI collagen.
OBJECTIVE: Some of the genomic instability that is observed in solid tumors may be due to the loss of telomeric sequences. These experiments were designed to compare the number of telomeric repeat sequences in endometrial adenocarcinoma with that found in adjacent normal tissue. STUDY DESIGN: Deoxyribonucleic acid was extracted from normal and malignant uterine tissue of 11 patients undergoing hysterectomy for treatment of endometrial adenocarcinoma and also from five endometrial carcinoma cell lines. The relative number of telomeric repeat sequences in each sample was measured by hybridization of these deoxyribonucleic acids to a probe specific for the human telomeric repeat. Hybridization signals were quantified by autoradiography and a beta-particle detection system. RESULTS: A reduction of telomeric repeat sequences in tumor versus normal tissue was found in 10 of 11 cases. Telomere reduction was also seen in endometrial carcinoma cell lines. CONCLUSIONS: Telomere reduction is a genetic characteristic of many endometrial tumors. Telomere reduction may contribute to the genesis and progression of endometrial carcinoma, or it may be a secondary effect of the tumorigenesis process.
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Immunoblastic sarcoma has been observed in association with, or subsequent to, chronic immune stimulation, connective tissue disorders, and immunoblastic lymphadenopathy. A case of Waldenström's macroglobulinemia progressinng after a few years into immunoblastic sarcoma is reported. Splenectomy led to disappearance of hemolytic anemia and of pulmonary infiltrates, as well as to marked reduction of macroglobulins. Although immunoblastic sarcoma usually terminates fatally within two or three months, complete remission was induced by combination chemotherapy. It is speculated that Waldenström's macroglobulinemia, immunoblastic lymphadenopathy, and immunoblastic sarcoma are related disorders reflecting a clonal nature of immunoblastic lymphoma cells and the plasmacytic cells.