Skeletal Muscle Magnetic Resonance Imaging of the Lower Limbs in Late-onset Lipid Storage Myopathy with Electron Transfer Flavoprotein Dehydrogenase Gene Mutations / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Lipid storage myopathy (LSM) is a genetically heterogeneous group with variable clinical phenotypes. Late-onset multiple acyl-coenzyme A dehydrogenation deficiency (MADD) is a rather common form of LSM in China. Diagnosis and clinical management of it remain challenging, especially without robust muscle biopsy result and genetic detection. As the noninvasion and convenience, muscle magnetic resonance imaging (MRI) is a helpful assistant, diagnostic tool for neuromuscular disorders. However, the disease-specific MRI patterns of muscle involved and its diagnostic value in late-onset MADD have not been systematic analyzed.</p><p><b>METHODS</b>We assessed the MRI pattern and fat infiltration degree of the lower limb muscles in 28 late-onset MADD patients, combined with detailed clinical features and gene spectrum. Fat infiltration degree of the thigh muscle was scored while that of gluteus was described as obvious or not. Associated muscular atrophy was defined as obvious muscle bulk reduction.</p><p><b>RESULTS</b>The mean scores were significantly different among the anterior, medial, and posterior thigh muscle groups. The mean of fat infiltration scores on posterior thigh muscle group was significantly higher than either anterior or medial thigh muscle group (P < 0.001). Moreover, the mean score on medial thigh muscle group was significantly higher than that of anterior thigh muscle group (P < 0.01). About half of the patients displayed fat infiltration and atrophy in gluteus muscles. Of 28 patients, 12 exhibited atrophy in medial and/or posterior thigh muscle groups, especially in posterior thigh muscle group. Muscle edema pattern was not found in all the patients.</p><p><b>CONCLUSIONS</b>Late-onset MADD patients show a typical muscular imaging pattern of fat infiltration and atrophy on anterior, posterior, and medial thigh muscle groups, with major involvement of posterior thigh muscle group and gluteus muscles and a sparing involvement of anterior thigh compartment. Our findings also suggest that muscle MRI of lower limbs is a helpful tool in guiding clinical evaluation on late-onset MADD.</p>

Diagnostic value of serum CEACAM1 in patients with pancreatic cancer / 南方医科大学学报

<p><b>OBJECTIVE</b>To investigate the diagnostic value of serum CEACAM1 in patients with pancreatic cancer.</p><p><b>METHODS</b>Fifty patients with pancreatic cancer and 50 with chronic pancreatitis were examine for serum levels of CEACAM1 by enzyme-linked immunosorbent assay (ELISA). The cut-off values and area under curve (AUC) of CEACAM1 was obtained by receiver operating characteristic (ROC) curve. The diagnostic efficiency of the tumor markers for pancreatic cancer was assessed by the fourfold table.</p><p><b>RESULTS</b>The serum level and positivity rate of CEACAM1 in pancreatic cancer patients were higher than those in chronic pancreatitis patients (P<0.05). Based on the ROC curve, the cut-off values and AUC of CEACAM1 were 13.835 ng/ml and 0.780, respectively (P<0.05). In pancreatic cancer patients, the diagnostic sensitivities of the tumor markers decreased in the order of CEACAM1 < CA242 < CA19-9 (P<0.05), and the specificity in the order of CA242 < CA19-9 < CEACAM1 (P<0.05).</p><p><b>CONCLUSION</b>CEACAM1 shows a higher diagnostic sensitivity than CA19-9 and CA242 for pancreatic cancer, but due to its low specificity this marker alone is not sufficient for diagnostic purposes.</p>

Effects of survivin antisense RNA and HSP70 double gene transfection on MCF-7 cells in vitro / 南方医科大学学报

<p><b>OBJECTIVE</b>To explore the effects of survivin antisense RNA and HSP70 double gene transfection on breast cancer cell line MCF-7.</p><p><b>METHODS</b>MCF-7 cells was transfected with the double-gene vector pIRES2-EGFP-survivin antisense RNA/HSP70 via liposome. After a 72-h transfection, the cells were collected for observation under inverted fluorescent microscope. The changes of survivin mRNA and HSP70 protein expressions in the cells were detected with real-time PCR and Western-blot before and after the cell transfection, and the apoptotic rate of the transfected MCF-7 cells was detected by flow cytometry analysis with Annexin-V-cy5/7AAD double staining.</p><p><b>RESULTS</b>Green fluorescence was detected in MCF-7 cells transfected with the double-gene expression vector and the empty vector under inverted fluorescent microscope. The expression level of survivin mRNA in the cells was reduced effectively after the transfection with the double-gene expression vector, which also induced obvious cell apoptosis and enhanced the expression level of HSP70 protein as compared with those in MCF-7 cells transfected with the empty vector and the untransfected MCF-7 cells.</p><p><b>CONCLUSION</b>Survivin antisense RNA can interfere with the expression of endogenous survivin and induce apoptosis of MCF-7 cells. HSP70 can increase the expression of HSP70 protein in MCF-7 cells.</p>