Objective To identify the pathogenic variant responsible for restrictive cardiomyopathy （RCM） in aChinese family.Methods Next generation sequencing was used for detecting the mutation and results verified bysequenci...Objective To identify the pathogenic variant responsible for restrictive cardiomyopathy （RCM） in aChinese family.Methods Next generation sequencing was used for detecting the mutation and results verified bysequencing. We used restriction enzyme digestion to test the mutation in the family members and 200 unrelatednormal subjects without any cardiac inherited diseases when the mutation was identified.Results Five individuals died from cardiac diseases, two of whom suffered from sudden cardiacdeath. Two individuals have suffered from chronic cardiac disorders. Mutation analysis revealed a novelmissense mutation in exon 7 of troponin I type 3 （TNNI3）, resulting in substitution of serine （S） withproline （P） at amino acid position 150, which cosegregated with the disease in the family, which is predictedto be probably damaging using PolyPhen-2. The mutation was not detected in the 200 unrelated subjectswe tested.Conclusion Using next generation sequencing, which has very recently been shown to be successfulin identifying novel causative mutations of rare Mendelian disorders, we found a novel mutation of TNNI3 in aChinese family with RCM.展开更多
Background：Accurate evaluation of the plain radiography of lower limb is critical for preoperative planning of total knee arthroplasty （TKA）. We aimed to investigate the effect of femoral lateral bowing and rotatio...Background：Accurate evaluation of the plain radiography of lower limb is critical for preoperative planning of total knee arthroplasty （TKA）. We aimed to investigate the effect of femoral lateral bowing and rotation on the radiographic measurements of distal femoral condyle resection thickness （DRT） and the distal femoral resection valgus angle （FVA）. Methods： We analyzed 246 three-dimensional femoral models generated from computed tomography images of 123 patients, acquiring projected contours in seven positions – 20° and 10° internal rotation; 0° rotation; 10°, 20°, 30°, and 40° external rotation – for each model. Medial and lateral condyle DRTs, femoral shaft lateral bowing angle （FBA）, and distal FVA were determined for each position. Linear mixed effect model was used to determine the effect of degree of femur rotation on repeated measurements of DRT or FVA. Results： FBA significantly affected the FVA and DRT （Pearson＇s R = 0.767 and -0.408, respectively; P 〈 0.000）. Samples were divided into three groups according to the FBA measured in neutral position： FBA 〈0°： DRT 3.75 ± 1.30 mm, FVA 4.53° ± 1.27°; FBA 〉0° but 〈3°： DRT 3.39 ± 1.31 mm, FVA 5.92° ± 1.31°; FBA 〉3°： DRT 2.22 ± 1.31 mm, FVA 7.37° ± 1.31°. From simulated 20° internal rotation to 40° external rotation in each femoral model, the average variation ranges of radiographically measured DRT, FVA, and FBA were 0.50 ± 0.28 mm, 2.93° ± 0.96°, and 10.33° ± 1.90°, respectively, with no significant differences among the FBA groups. The degree of femoral rotation significantly affected the FVA （F = 62.148, P 〈 0.000）, whereas there was no effect on condyle resection thickness （F = 0.4705, P = 0.494）. Conclusions： Axial femoral rotation has less effect on radiographic measurements of differences in the DRT than on those of the distal FVA.展开更多
文摘Objective To identify the pathogenic variant responsible for restrictive cardiomyopathy （RCM） in aChinese family.Methods Next generation sequencing was used for detecting the mutation and results verified bysequencing. We used restriction enzyme digestion to test the mutation in the family members and 200 unrelatednormal subjects without any cardiac inherited diseases when the mutation was identified.Results Five individuals died from cardiac diseases, two of whom suffered from sudden cardiacdeath. Two individuals have suffered from chronic cardiac disorders. Mutation analysis revealed a novelmissense mutation in exon 7 of troponin I type 3 （TNNI3）, resulting in substitution of serine （S） withproline （P） at amino acid position 150, which cosegregated with the disease in the family, which is predictedto be probably damaging using PolyPhen-2. The mutation was not detected in the 200 unrelated subjectswe tested.Conclusion Using next generation sequencing, which has very recently been shown to be successfulin identifying novel causative mutations of rare Mendelian disorders, we found a novel mutation of TNNI3 in aChinese family with RCM.
文摘Background：Accurate evaluation of the plain radiography of lower limb is critical for preoperative planning of total knee arthroplasty （TKA）. We aimed to investigate the effect of femoral lateral bowing and rotation on the radiographic measurements of distal femoral condyle resection thickness （DRT） and the distal femoral resection valgus angle （FVA）. Methods： We analyzed 246 three-dimensional femoral models generated from computed tomography images of 123 patients, acquiring projected contours in seven positions – 20° and 10° internal rotation; 0° rotation; 10°, 20°, 30°, and 40° external rotation – for each model. Medial and lateral condyle DRTs, femoral shaft lateral bowing angle （FBA）, and distal FVA were determined for each position. Linear mixed effect model was used to determine the effect of degree of femur rotation on repeated measurements of DRT or FVA. Results： FBA significantly affected the FVA and DRT （Pearson＇s R = 0.767 and -0.408, respectively; P 〈 0.000）. Samples were divided into three groups according to the FBA measured in neutral position： FBA 〈0°： DRT 3.75 ± 1.30 mm, FVA 4.53° ± 1.27°; FBA 〉0° but 〈3°： DRT 3.39 ± 1.31 mm, FVA 5.92° ± 1.31°; FBA 〉3°： DRT 2.22 ± 1.31 mm, FVA 7.37° ± 1.31°. From simulated 20° internal rotation to 40° external rotation in each femoral model, the average variation ranges of radiographically measured DRT, FVA, and FBA were 0.50 ± 0.28 mm, 2.93° ± 0.96°, and 10.33° ± 1.90°, respectively, with no significant differences among the FBA groups. The degree of femoral rotation significantly affected the FVA （F = 62.148, P 〈 0.000）, whereas there was no effect on condyle resection thickness （F = 0.4705, P = 0.494）. Conclusions： Axial femoral rotation has less effect on radiographic measurements of differences in the DRT than on those of the distal FVA.
