Methods and Results – We have consequently expressed, in COS7 cells, GFP-prelamin A (GFPLaA) fusion constructs incorporating the 6 variants in pedigrees with nonsegregation (R101P, A318T, R388H, R399C, S437Hfsx1, and R654X), the 4 variants in pedigrees with unknown segregation (R89L, R166P [in 2 families], I210S, R471H), and 3 additional missense variants
(R190Q, E203K, and L215P) that segregated with disease. Confocal immunofluorescence microscopy was used to characterize GFP-lamin A localization and nuclear morphology. Abnormal phenotypes were observed for 10 of 13 (77%) variants this website (R89L, R101P, R166P, R190Q, E203K, I210S, L215P, R388H, S437Hfsx1, and R654X), including 4 of 6 showing nonsegregation and 3 of 4 with uncertain segregation. RG 7112 All 7 variants affecting coil
1B and the lamin A-only mutation, R654X, exhibited membrane-bound GFP-lamin A aggregates and nuclear shape abnormalities. Unexpectedly, R388H largely restricted GFP-lamin A to the cytoplasm. Equally unexpected were unique streaked aggregates with S437Hfsx1 and giant aggregates with both S437Hfsx1 and R654X.
Conclusions – This work expands the recognized spectrum of lamin A localization abnormalities in dilated cardiomyopathy. It also provides evidence supporting pathogenicity of 10 of 13 tested LMNA variants, including some with uncertain or nonsegregation. (Circ Cardiovasc Genet. 2010; 3: 6-14.)”
“Objectives. Prior to performing a cervical interlaminar epidural steroid injection (CIESI), knowledge of the depth from lamina to epidural space may assist in preventing cord injury. Methods. This is a prospective analysis of data including gender, age, weight, height, previous surgery, neck circumference, distances from tip of chin to sternal notch, occiput to C7 vertebral prominence, and ear lobe to tip of shoulder, pain score, angle from C7 vertebral prominence to the back, depth at which the Tuohy needle contacted T1 vertebral lamina and depth at which the epidural space was entered was conducted
with 92 subjects, average age (+/-standard deviation [SD]) 41.3 +/- 13.2 years underwent fluoroscopically guided C7-T1 intralaminar epidural steroid Alvocidib concentration injections. Results. Depth to lamina was the best individual predictor with an r value of 0.86. Weight, neck circumference, and body mass index (BMI) positively correlated with depth to epidural space with r values of 0.66, 0.62, and 0.61, respectively. A linear regression model of depth to lamina for predicting depth to epidural space was accurate to within +/-0.5 cm of the actual depth in 69% of subjects. However, when comparing predicted with actual depth to epidural space for individual subjects, the prediction was inaccurate by as much as 1.6 cm deep or 1.7 cm shallow. Conclusions.