Two cases of rare diseases with abnormalities of X chromosome / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical features and genetic diagnosis of two cases with rare diseases and X chromosome abnormalities.@*METHODS@#Multiple ligation-dependent probe amplification (MLPA) and karyotype analysis were carried out on an 8-year-old girl who was diagnosed with Duchenne muscular dystrophy. Karyotype analysis and PCR assay for SRY and AZF genes were carried out for a-2-month-old male infant with short penis.@*RESULTS@#The girl, who featured short stature and cubitus valgus, was diagnosed as Turner syndrome with a karyotype of 46,X,i(Xq). The male infant was detected with a karyotype of 45,X, with presence of SRY gene but absence of AZF gene.@*CONCLUSION@#Both cases may be associated with abnormalities of X chromosome. Genetic testing can facilitate early diagnosis and clinical intervention for such patients.

Analysis of influence factors on the elasticity measurement of focal liver lesions with real-time shear wave elastography / 中华超声影像学杂志

Objective To study the influence factors of real-time shear wave elastography(SWE) on the elasticity of focal liver lesions (FLLs) measurement.Methods The mean Young's modulus of 160 FLLs were measured by SWE.The relation between elasticity with different aspects of FLLs were analyzed including postures (supine and left lateral position),respiratory phases (end of inspiratory and expiratory),the probe position (rib and intercostal space) and different operators.Results There were significant differences between different postures and respiratory phases in the elasticity measurement of FLLs by SWE (P ＜0.05).There was no significant difference between robe position and different operators in the elasticity measurement of FLLs by SWE(P ＞0.05).Conclusions The postures and respiratory phases can impact the elasticity measurement of FLLs by SWE.

Study on Evidence Grading System in Evidence-based Clinical Practice Guidelines of Traditional Chinese Medicine / 世界科学技术-中医药现代化

This article explained that the evidence grading system occupied an important position in the evidence-based clinical practice guidelines. Through the comparative analysis on characteristics of clinical evidences between traditional Chinese medicine (TCM) and modern medicine, different possible establishment ideas of evidence grading system in TCM evidence-based clinical practice guidelines were proposed . The design for evidence grading standard of Chinese medical literature which reflected the academic characteristics of TCM was suggested.

Multi-slice spiral CT diagnosis of complex congenital heart diseases / 中国介入影像与治疗学

Objective To investigate scanning and reconstruction techniques of multi-slice spiral CT (MSCT) in patients with complex congenital heart diseases (CCHD).Methods One hundred eighty-four patients suffering from CCHD underwent 16-detector MSCT scanning without ECG-gating.Multi-planar reconstruction (MPR),maximum intensity projection (MIP),curved-planar reconstruction (CPR) and volume rendering (VR) were used to reconstruct images.CT findings were compared with those of surgical operation or angiocardiography.Results A total of 616 cardiac deformities were found with MSCT and proved by angiocardiograms or surgical operation.The diagnostic accuracy of extracardiac malformation with MSCT was 100%,of atrial septal defect was 54.65%,and of ventricular septal defect was 78.62%.MSCT failed to display heart valve disease well.Conclusion MSCT can accurately detect extracardiac malformations of CCHD.