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Articles by T Yang
Total Records ( 2 ) for T Yang
  T Yang , S. K Chung , W Zhang , J. G.L Mullins , C. H McCulley , J Crawford , J MacCormick , C. A Eddy , A. N Shelling , J. K French , P Yang , J. R Skinner , D. M Roden and M. I. Rees
 

Background— Inherited long-QT syndrome is characterized by prolonged QT interval on the ECG, syncope, and sudden death caused by ventricular arrhythmia. Causative mutations occur mostly in cardiac potassium and sodium channel subunit genes. Confidence in mutation pathogenicity is usually reached through family genotype-phenotype tracking, control population studies, molecular modeling, and phylogenetic alignments; however, biophysical testing offers a higher degree of validating evidence.

Methods and Results— By using in vitro electrophysiological testing of transfected mutant and wild-type long-QT syndrome constructs into Chinese hamster ovary cells, we investigated the biophysical properties of 9 KCNQ1 missense mutations (A46T, T265I, F269S, A302V, G316E, F339S, R360G, H455Y, and S546L) identified in a New Zealand-based long-QT syndrome screening program. We demonstrate through electrophysiology and molecular modeling that 7 of the missense mutations have profound pathological dominant-negative loss-of-function properties, confirming their likely disease-causing nature. This supports the use of these mutations in diagnostic family screening. Two mutations (A46T, T265I) show suggestive evidence of pathogenicity within the experimental limits of biophysical testing, indicating that these variants are disease-causing via delayed- or fast-activation kinetics. Further investigation of the A46T family has revealed an inconsistent cosegregation of the variant with the clinical phenotype.

Conclusions— Electrophysiological characterization should be used to validate long-QT syndrome pathogenicity of novel missense channelopathies. When such results are inconclusive, great care should be taken with genetic counseling and screening of such families, and alternative disease-causing mechanisms should be considered.

  J Gu , W Yang , J Cheng , T Yang , Y Qu , Y Kuang , H Huang , L Yang , W He and L. Min
  Objective

To analyse the temporal and spatial characteristics of traumatic brain injury and the distribution of combined injuries in the Wenchuan earthquake, and describe the treatment opportunities and preferences for therapy.

Methods

The diagnosis and treatment of 92 patients with traumatic brain injury who survived the massive earthquake (magnitude 8) in Wenchuan, Sichuan Province, on 12 May 2008 were systematically analysed.

Results

The patients all came from the plains northwest of Chengdu city. Seventy-six patients were admitted during the early stage (within 12 h) after the earthquake. Ten patients underwent surgery and three patients died.

Conclusion

Patients with traumatic brain injury during the early period accounted for a large proportion of the patients wounded in the Wenchuan earthquake, and their conditions changed quickly. The patients all came from the plain area which has convenient transportation. After admission, providing first-aid early had a significant effect on increasing the success of treatment for these patients.

 
 
 
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