Objective To investigate the expression of interleukin-3 receptor alpha(CD123)on bone marrow cells in acute myelocytic leukemia(AML)and its clinical significances.Methods By means of Fluorescence-activated cell sorer(FACS)and semi-quantity reverse transcripition polymerase chain reaction(RT-PCR),the expression of IL-3R?(CD123+)protein on CD34+CD38-cells and mRNA in BMMNCs of 62 AML patients of Tianjin Medical University General Hospital from March 2008 to January 2009 and 12 normal controls were detected respectively;Then the correlation between IL-3R? and the clinical stages of AML were analyzed.Results CD34+CD38-CD123+/CD34+CD38-and IL-3R? mRNA in BMMNC of 33 deno-vo or relapsed AML patients were higher than those of control group(P

OBJECTIVE: To detect pathogenic variant in a neonate suspected for Cornelia de Lange syndrome (CdLS). METHODS: Potential mutations of CdLS-related genes (NIPBL, SMC1A, SMC3, RAD21 and HDAC8) were detected by high-throughput target region capture and next-generation sequencing. Suspected variants was verified by Sanger sequencing. RESULTS: The child was found to harbor a heterozygous splice site variant, c.6109-1G>A, of the NIPBL gene. Sanger sequencing suggested that neither parent has carried the same variant, suggesting that it was de novo. The variant was unreported by HGMD and ExAC database, and was predicted to alter an acceptor splicing site. No pathogenic variants of SMC1A, SMC3, RAD21 and HDAC8 genes were detected. CONCLUSION The heterozygous c.6109-1G>A splicing variant of the NIPBL gene may underlie the disease in this child. Above finding has expanded the variant spectrum of the NIPBL gene.
Cell Cycle Proteins ; genetics ; De Lange Syndrome ; genetics ; Genetic Testing ; Genetic Variation ; High-Throughput Nucleotide Sequencing ; Humans ; Infant, Newborn ; Mutation ; Phenotype

Objective : To investigate the effect of tension on donor site recovery of modified forearm flaps (closed forearm donor site skin flaps). Methods : From October 2018 to April 2021, 12 patients with oral cancer underwent forearm flap repair at Xuzhou Central Hospital. Handgrip strength and wrist motion were recorded before surgery. During the surgical incision at the donor site of the forearm, the triangular full-thickness skin of the donor site was used to close part of the surgical incision, and the other part of the surgical incision was directly closed and sutured. Tension was measured with a tension meter during the surgical incision at the donor site. Patients were followed up after surgery to observe whether there were postoperative complications such as necrosis and poor healing of donor site wounds, as well as forearm grip strength, wrist range of motion and appearance satisfaction. Results: Among the 12 patients, there was only one elderly patient with postoperative necrosis near the wrist in the donor site skin, and the average tension of the patient was 0.65 kg; the lesion healed after dressing changes. All of the other patients recovered well without postoperative complications. The mean tension of 12 patients was (0.51 ± 0.05) kg. The preoperative and postoperative grip strength of 12 patients was (23.7 ± 10.3) kg and (22.3 ± 10.7) kg, respectively, and the difference was not statistically significant (t=5.872, P<0.001). The mean range of motion of the wrist was (47.6 ± 8.3)°, (45.8 ± 5.8)°; dorsiflexion (54.6 ± 3.2)°, (53.9 ± 2.3)°; radial deviation (37.0 ± 2.3)°, (36.1 ± 2.2)°; ruler deviation (27.1 ± 1.9)°, (26.4 ± 1.3)°, respectively. The t values were 1.64, 1.636, 2.116 and 1.412, and the P values were 0.129, 0.130, 0.058 and 0.186, respectively. All 12 patients were satisfied with the appearance of the donor site of the forearm. Conclusion When the average tension during suturing is less than 0.5 kg, there is a lower risk of complications at the donor site of the forearm one month after surgery, a lower risk of impaired donor site function, and a greater possibility of patient satisfaction with the appearance of the donor site.

Objective:To evaluate the dose-response relationship of remimazolam for loss of consciousness during anesthesia induction in the patients undergoing coronary artery bypass grafting (CABG).Methods:American Society of Anesthesiologists Physical Status classification Ⅲ or Ⅳpatients, aged 55-64 yr, with body mass index of 21-26 kg/m 2, scheduled for elective CABG under general anesthesia, were included in this study.The trial was conducted using the modified Dixon′s up-and-down method. The initial dose of remimazolam was 0.225 mg/kg, each time the concentration increased/decreased by 0.025 mg/kg in the next patient depending on whether or not the patients lost consciousness. Criteria for loss of consciousness was considered as the modified vigilance sedation score≤1 within 3 min after remimazolam administration. The 50% effective dose (ED 50), 95% effective dose (ED 95) and their 95% confidence interval ( CI) was analyzed by probit probability analysis method. Results:The ED 50 of remimazolam for loss of consciousness during anesthesia induction was 0.175 mg/kg, 95% CI was 0.163-0.185 mg/kg, ED 95 was 0.211 mg/kg, and 95% CI was 0.197-0.255 mg/kg. Conclusions:The ED 50 and ED 95 of remimazolam were 0.175 and 0.211 mg/kg respectively when used for loss of consciousness during anesthesia induction in the patients undergoing CABG.