Objective To discuss the value of Time-Resolved Imaging of Contrast Kinetics (TRICKS) in the diagnosis of lower extremity diseases. Methods 24 cases (27 times) with lower extremity, skeleton and blood vessel diseases undergoing TRICKS were retrospectively analyzed. There were 14 cases with both lower extremities two -segment scan, 5 cases(6 times) with one-segment scan(thigh), and 5 cases (7 times) with one-segment scan(calf). Conventional sequences were performed followed by enhanced MR angiography with the TRICKS technique. Results The TRICKS images for all cases satisfied the vascular changes and structure demonstration in arteriovenous phase, and the full circulative process of those pathological vessels were observed. The diagnostic accuracy of TRICKS angiography has been validated. Conclusion The TRICKS provides a method for imaging the change of blood flow. The vascularity in the target vascular and tumor can also be obtained. Hence TRICKS provide important information in clinical decision making.

OBJECTIVETo analyze the phenotype and genotype of a family with inherited dysfibrinogenemia.

METHODSLaboratory tests including activated particle thromboplastin time (APTT), prothrombin time (PT), thrombin time (TT), and the activity of protein C (PC), protein S(PS) and antithrombin (AT) were conducted in the proband and 4 family members. The activity and antigen of fibrinogen in plasma were measured by functional and immunoturbidimetry assay, respectively. All the exons and exon-intron boundaries of the three fibrinogen genes were analyzed by direct sequencing.

RESULTSThe proband had normal APTT and PT, but prolonged TT. Her plasma fibrinogen levels were extremely reduced, which was also found in her mother. The sequencing results of the proband revealed heterozygous g.5678 G>A in the exon 8 of FGG gene originating from her mother, which caused Arg275His missense mutation.

CONCLUSIONDysfibrinogenemia in the family is caused by Arg275His in the beta chain of fibrinogen and it is the first report on a Chinese family with inherited dysfibrinogenemia.

Adult ; Afibrinogenemia ; blood ; genetics ; Amino Acid Substitution ; Arginine ; genetics ; DNA Mutational Analysis ; Female ; Fibrinogen ; genetics ; metabolism ; Histidine ; genetics ; Humans ; Male ; Pedigree ; Phenotype