Dominant ß-Thalassemia Phenotype Caused by Hb Dieppe (HBB: c.383A>G): Another Case Report.

Homozygous or compound heterozygous mutations of the ß-globin gene lead to ß-thalassemia (ß-thal) major (ß-TM) or ß-thal intermedia (ß-TI), whereas heterozygotes usually show microcytosis with negligible or no hemolysis. Certain missense mutations in exon 3, however, produce unstable globins causing a dominant ß-thal phenotype or hemolytic anemia in heterozygotes. Here we report a mutation in exon 3 of the ß-globin gene, which results in an unstable globin (Hb Dieppe) [ß127(H5)Gln→Arg; HBB: c.383A>G] with a dominant ß-thal phenotype in two generations of a Chinese family. Physicians should be alerted to this mechanism of ß-thal considering its relative rarity.

[Case-control study on T-shaped locking internal fixation and external fixation for the treatment of dorsal Barton's fracture].

OBJECTIVE: To compare clinical effect of T-shaped locking internal fixation and external fixation in treating dorsal Barton's fracture,and investigate selective strategy of internal fixation. METHODS: From January 2008 to January 2013, 100 patients with dorsal Barton's fracture were randomly divided into two groups. In treatment group, there were 30 males and 20 females with an average age of (33.8±3.6) years old;30 cases were type B, 20 cases were type C;and treated with T-shaped locking internal fixation. In control group, there were 32 male and 18 females with an average age of (32.9±3.4) years old; 29 cases were type B, 21 cases were type C; and treated with external fixation. Volar tilt, ulnar deviation and radial height at 3 months after operation were detected and compared between two groups. Mechara functional evaluation were used to evaluate postoperative clinical effects. Clinical cure time, postoperative complications,joint mobility and function score were recorded and compared between two groups. RESULTS: In treatment group,volar tilt was (11.9±2.7)°, ulnar deviation was (20.8+ 2.9)°,and radial height was (10.9±1.8) mm; while volar tilt was (9.1±1.6)°, ulnar deviation was (17.1±2.9)°, and radial height was (8.1±1.5) mm in control group. Treatment group was better than control group in volar tilt, ulnar deviation and radial height. Clinical cure time in treatment group was(12.0±2.3) weeks, shorter than control group (18.0±4.1) weeks. The incidence of complications in treatment group was lower than control group. According to Mehara functional evaluation,20 cases got excellent results, 25 good, 3 moderate and 2 poor in treatment group; 16 cases got excellent results, 14 good, 10 moderate and 10 poor in control group. Treatment group was better than control group in clinical effects. CONCLUSION: T-shaped locking internal fixation with postoperative functional exercise for the treatment of dorsal Barton's fracture fits for biomechanics demands,and has advantages of stable fixation,rapid recovery, less complications and good functional recovery, it has better clinical effects.

Silencing Fas-associated phosphatase 1 expression enhances efficiency of chemotherapy for colon carcinoma with oxaliplatin.

AIM: To investigate whether silencing Fas-associated phosphatase 1 (FAP-1) expression enhances the efficiency of chemotherapy for colon carcinoma with oxaliplatin. METHODS: Expression of FAP-1 in mRNA and protein was detected by reverse transcription polymerase chain reaction (RT-PCR) and flow cytometry. Small interfering RNA (siRNA) was designed according to the FAP-1 mRNA sequence. Cell proliferation was evaluated by methyl thiazolyl tetrazolium (MTT) assay. Anenxin V- and propidine iodine (PI) were assayed by flow cytometry for the detection of apoptosis. RESULTS: The expression of FAP-1 was increased in SW480 cells after chemotherapy with oxaliplatin. Transfection of FAP-1 siRNA into SW480 cells silenced the expression of FAP-1 and consequently abolished the inhibitory function of Fas/FasL-mediated apoptosis pathway, thus increasing the efficacy of chemotherapy for colon carcinoma with oxaliplatin. CONCLUSION: RNA interference combined with conventional chemotherapy is more effective against colon cancer.