Genetic analysis of a fetus with mosaicism of structural aberration of Y chromosome / 中华医学遗传学杂志

OBJECTIVE@#To carry out genetic analysis and parental tracing for a fetus with an inconclusive chromosomal karyotype.@*METHODS@#The fetus and its parents were subjected to combined chromosomal karyotyping, chromosomal microarray analysis (CMA), fluorescence in situ hybridization (FISH) and multiplex PCR testing for Y chromosome microdeletions.@*RESULTS@#The fetus was found to have a karyotype of 45,X[18]/46,X,+mar[72]. CMA revealed that the fetus has carried a 2.6 Mb duplication at Yp11.32p11.31 and a 44.5 Mb deletion at Yq11.21q12. Interphase FISH of amniocytes confirmed the chromosomal mosaicism in the fetus, which has derived from Y chromosome. Multiplex PCR revealed deletion of AZFb and AZFc regions on the Y chromosome. No karyotypic abnormality was found with either parent at 400-band level.@*CONCLUSION@#Combined genetic analysis has delineated the aberrant karyotype in the fetus, which has facilitated prediction of its clinical phenotype and genetic counseling.

Open reduction and internal fixation via two lateral approaches in treating Sanders type III intra-articular calcaneal fractures: a comparative analysis / 中华创伤杂志

Objective:To compare the post-operative outcomes between extended lateral approach and L-shaped lateral approach in surgical treatment of Sanders type III intra-articular calcaneal fractures.Methods:A retrospective case-control study was made on clinical data of 34 patients with fresh Sanders type III intra-articular calcaneal fractures hospitalized in Langfang Hospital of Traditional Chinese Medicine from October 2014 to October 2017. There were 33 males and 1 female, with the age of 18-56 years [(42.5±9.4)years]. All fractures were fresh. Seventeen patients were fixed by the extended lateral approach (extended approach group) and seventeen patients by L-shaped lateral approach (L-shaped approach group). Operation duration, intraoperative bleeding volume, length of hospital stay, one-stage wound healing rate and complication rate were observed. B?hler and Gissane angle were measured before operation, one week after operation and 12 months after operation. American Orthopedic Foot and Ankle Society (AOFAS) ankle-hindfoot scale was applied to evaluate function recovery.Results:There were no significant differences between groups in operative time and intraoperative bleeding volume ( P>0.05). There were significant differences between extended approach group and L-shaped approach group in length of hospital stay [(15.7±4.0)days vs.(22.4±9.6)days], one-stage wound healing rate [88%(15/17) vs. 47%(8/12)] and postoperative complication rate [12%(2/17) vs. 47%(8/17)] ( P<0.05). The B?hler and Gissane angles did not differ significantly between groups before operation and one week and 12 months after operation ( P>0.05). At postoperative 12 months, the B?hler and Gissane angles were improved from preoperative (8.2±6.0)°, (85.3±10.5)° to (23.9±6.1)° and (119.3±6.2)° respectively in extended approach group, and those from preoperative (9.4±3.9)°, (85.5±7.1)° to (25.8±3.7)° and (122.2±5.6)° respectively in L-shaped approach group (all P>0.05). At 12 months after operation, the AOFAS score was (86.9±7.5)points in extended approach group, with the excellent and good rate of 88%; and was (83.3±12.5)points in L-shaped approach group, with the excellent and good rate of 76% ( P>0.05). While the score of hindfoot joint activity in extended approach group was (5.8±0.7)points, significantly higher than (3.4±1.0)points in L-shaped approach group ( P<0.05). Conclusion:For Sanders III intraarticular calcaneal fractures, compared with L-shaped approach group, plate fixation via extended approach can promote fracture healing, shorten hospital stay, reduce incidence of complications and facilitate function recovery of subtalar joint.