RESUMO
BACKGROUND: Spondyloepiphyseal dysplasia congenita (SEDC) is a rare autosomal dominant hereditary disease caused by COL2A1 mutations. SEDC primarily involves the skeletal system, with typical clinical manifestations, including short stature, hip dysplasia, and spinal deformity. Due to the low incidence of SEDC, there are only a few case reports regarding the surgical treatment of SEDC complicated with spinal deformities. CASE SUMMARY: We report a case of a 16-year-old male patient with SEDC. He presented with typical short stature, atlantoaxial dysplasia, scoliosis, and hip dysplasia. Cervical magnetic resonance imaging showed spinal canal stenosis at the atlas level and cervical spinal cord compression with myelopathy. The scoliosis was a right thoracic curve with a Cobb angle of 65°. He underwent atlantoaxial reduction, decompression, and internal fixation from C1-C2 to relieve cervical myelopathy. Three months after cervical surgery, posterior correction surgery for scoliosis was performed from T3 to L4. Scoliosis was corrected from 66° to 8° and remained stable at 2-year follow-up. CONCLUSION: This is the first case report of a patient with SEDC who successfully underwent surgery for atlantoaxial dysplasia and scoliosis. The study provides an important reference for the surgical treatment of SEDC complicated with spinal deformities.
RESUMO
OBJECTIVE: To explore the inhibitory effect of 2- (4-morpholine) -8- phenyl -4 hydrogen -1- benzo -4 ketone (LY294002) on proliferation of multiple myeloma cell U266 and its mechanism. METHODS: U266 cells were cultured with 0, 5, 10, 20 µmol/L LY294002 for 24, 48 and 72 h, the cell viability was measured by MTT method, cell morphology was observed by acridine orange staining, cell cycle was measured by flow cytometry. The expressions of B-cell lymphoma-2 (BCL-2), BCL-2-associated X protein (BAX), Cyclin D1, Cyclin E and activation of phosphatidyl inositol 3 kinase (PI3K)/protein kinase B (AKT) signal pathway were measured by Western blot. RESULTS: U266 cell viability was reduced in time- and dose-dependent manner after treatment with 5, 10, 20 µmol/L of LY294002 for 24, 48, 72 h. The 5, 10, 20 µmol/L LY294002 leaded to cell nucleus dense and thick, and the cell cycle arrested in the G1 phase (P<0.01). The expressions of BCL-2, Cyclin D1, Cyclin E, PI3K and p-AKT were down-regulated (P<0.01), and the expression of BAX up-regulated (P<0.01). CONCLUSION: LY294002 can inhibit U266 cell proliferation via suppresion of activation of PI3K/AKT signal pathway.
