Scheie syndrome (MPS-IS) presented as bilateral trigger thumb.
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Child, Preschool↗
Biomedical subjects
Yoshito Matsui
Publications and source records attributed to Yoshito Matsui.
Open treatment of syndactyly of the foot.
The aim of reconstruction of the webs for syndactyly of the foot is cosmetic improvement, so skin grafting should be avoided. We present our long-term results of 19 feet with simple cutaneous syndactyly in 15 patients who were treated by an open technique. The bottom of the web was covered with a dorsal rectangular flap and the remaining skin defect was left open to epithelialise spontaneously. This took about 4 weeks. After a mean follow-up of 5.7 years (range 3-9), no hypertrophic scar or pigmentation of the skin had developed. Creeping of the web was seen only during the first postoperative year. The final depth of the web satisfied the families of all patients. As the aim of web reconstruction for syndactyly of the foot is purely cosmetic, we conclude that this simple method is reasonable treatment.
Female↗
Multiple trigger fingers associated with geleophysic dysplasia.
We report an infant with geleophysic dysplasia (MIM 231050) who developed multiple trigger fingers. The condition was progressive and distinct from trigger thumb, which is generally seen in infants without any underlying metabolic disease.
Abnormalities, Multiple↗
Differential expression of aggrecan mRNA isoforms by chondrosarcoma cells.
BACKGROUND: Aggrecan, the large aggregating proteoglycan, is a major component of the cartilage extracellular matrix. The C-terminal globular domain (G3) of the aggrecan molecule exhibits a pattern of alternative splicing that involves three exons. Each corresponds to a subdomain, epidermal growth factor 1(EGF1), EGF2, and a short complement repeat (SCR). MATERIALS AND METHODS: In the present study, we compared aggrecan mRNA splicing variants in osteochondrogenic tumor cells and normal cartilage using RT-PCR. RESULTS: Normal cartilage expressed two mRNA isoforms, both containing the SCR exon, but with or without the EGF1 exon. Benign cartilaginous tumors showed the same splicing pattern as normal cartilage. However, malignant chondrosarcomas expressed additional splicing isoforms, one of which lacked all three alternative exons and another with EGF2 and SCR exons. The human chondrosarcoma cell line (Ch-1 cells) expressed further isoforms, one containing either EGF1 or EGF2 exon only, and another with all the variant exons. CONCLUSION: These results imply that a change in the pattern of alternative aggrecan mRNA splicing is associated with malignant transformation of chondrocytes.
Aggrecans↗
Differential expression of VEGF isoforms and VEGF receptors in cartilaginous tumors.
Vascular endothelial growth factor (VEGF), which is known to have at least five isoforms and four receptors, is integral to tumor-induced neovascularization. In order to determine whether VEGF signaling is modulated in the development of cartilaginous tumors, we analyzed osteochondrogenic tumors for the expression of VEGF isoforms and VEGF receptors using the reverse transcription-polymerase chain reaction method. Although mRNA for VEGF121, VEGF165, VEGFR-1 and NRP-2 was widely expressed, mRNA expression for VEGF189, VEGFR-2 and NRP-1 was linked to a malignant phenotype such as local invasion. These results indicated that VEGF signaling was fine-tuned by the differential expression of the VEGF isoforms and VEGF receptors.
Bone Neoplasms↗
MRI characteristics of parosteal lipomas associated with the HMGA2-LPP fusion gene.
BACKGROUND: The magnetic resonance (MR) characteristics of parosteal lipomas with the HMGA2-LPP fusion transcripts are described. PATIENTS AND METHODS: The expression of HMGA2-LPP fusion transcripts was determined using the reverse transcription-polymerase chain reaction method. RESULTS: MR images of two cases with the fusion transcripts, a 56-year-old man and a 50-year-old woman, revealed heterogeneous high signal intensities on T1- and T2-weighted images, showing heterogeneous curvilinear enhancement on fat-suppressed T1-weighted images after Gd-DTPA injection, which resembled those of well-differentiated liposarcomas. CONCLUSION: Since the HMGA2-LPP fusion transcripts are exclusively detectable in benign mesenchymal tumors, testing HMGA2-LPP expression may be useful for differential diagnosis in cases of radiologically-suspected well-differentiated liposarcomas.
Female↗