Objective To investigate the distribution of blaOXA-51-like genes and the clonal relation-ship among Acinetobacter baumannii strains isolated from three teaching hospitals in Guangzhou , China. Methods Fifty-two Acinetobacter baumannii isolates were genotyped by multilocus sequence typing (MLST).eBURST algorithm was performed to define clonal complexes (CCs).blaOXA-51-like genes were am-plified by using polymerase chain reaction ( PCR) and sequenced .Results MLST grouped the A.bauman-nii isolates into 5 existing sequence types (STs) and 7 new STs.STn4 carried allele G1 with a T→C muta-tion at the 3rd nucleotide site (nt3) on the gpi111 locus.STn5 carried allele A1, possessing A→C muta-tions at nt156 and nt159 on the gltA1 locus.ST195 and ST208 accounted for 69.2%of all isolates.Clonal relationship analysis showed that ST 195 and ST208 belonged to CC92.Fifty-one A.baumannii isolates car-ried OXA-66 and the rest one carried OXA-199.Conclusion A.baumannii strains that belonged to CC92 and carried OXA-66 were the predominant genotype circulating in Guangzhou , China.

OBJECTIVE: To explore the genetic basis of a child with holoprosencephaly. METHODS: Genomic DNA of the child was extracted and subjected to whole exome sequencing. Suspected variant was verified by Sanger sequencing of her family members. RESULTS: Cranial MRI suggested lobulated holoprosencephaly with partial absence of corpus callosum. Genetic testing revealed that she has carried a heterozygous c.517C>G (p.His173Asp) variant of the SIX3 gene, for which both of her parents were of wild type. Based on the American College of Medical Genetics and Genomics guidelines, the c.517C>G variant of SIX3 gene was predicted to be pathogenic (PS2+PM1+PM2+PM5+PP3). CONCLUSION The SIX3 gene c.517C>G variant probably underlay the multiple malformations in this child. Above finding has enabled her definite diagnosis.
Child ; Family ; Female ; Heterozygote ; Holoprosencephaly/genetics* ; Humans ; Mutation ; Whole Exome Sequencing

Objective To evaluate the efficacy and safety of tacrolimus extended-release (Tac-ER) in the early stage after kidney transplantation. Methods Clinical data of 68 recipients undergoing kidney transplantation from 34 pairs of renal allografts were retrospectively analyzed. Two recipients who received bilateral kidneys from the same donor were treated with Tac-ER (Tac-ER group) and tacrolimus immediate-release (Tac-IR) (Tac-IR group) as one of the basic immunosuppressant. The changes of tacrolimus dosage and blood concentration, intra-patient variability (IPV), renal function, incidence of acute rejection, recipient and allograft survival rates and adverse events were statistically compared between two groups. Results The average daily dose of tacrolimus in the Tac-ER group was significantly higher than that in the Tac-IR group (F=8.386, P=0.005). In the Tac-ER group, the mean trough concentration at postoperative 4 d was (6.14±4.04) ng/mL, did not reach the target concentration, significantly lower than (9.41±5.47) ng/mL in the Tac-IR group (F=7.854, P=0.007). In the Tac-ER group, the IPV of trough concentration of tacrolimus within postoperative 1 month was significantly higher than that in the Tac-IR group (0.44±0.15 vs. 0.36±0.12, P=0.032). At postoperative 6 months, there was no significant difference in the renal function between two groups [serum creatinine level was (126±26) μmol/L vs. (120±28) μmol/L, and the estimated glomerular filtration rate was (56±13) mL/(min·1.73 m²) vs. (60±15) mL/(min·1.73 m²), both P > 0.05]. The allograft and recipient survival rates were 100% in both groups. The incidence of acute rejection within postoperative 1 month was 18% in the Tac-ER group and 3% in the Tac-IR group, with no significant difference (P > 0.05). The overall incidence of adverse events was 94% in the Tac-ER group and 97% in the Tac-IR group, with no significant difference (P > 0.05). Conclusions The efficacy and safety of Tac-ER are equivalent to those of Tac-IR, whereas a higher dose of Tac-ER should be orally given to reach the blood concentration similar to that of Tac-IR. During early-stage drug treatment, Tac-ER should be orally given before kidney transplantation or inittally with loading dose, aiming to increase the systemic exposure to tacrolimus early after kidney transplantation and prevent acute rejection caused by insufficient exposure.

Objective:To observe the safety and efficacy of early conversion into a simplified once-daily immunosuppressive regimen of sirolimus plus low-dose extended-release tacrolimus in kidney transplant recipients.Methods:From April 2019 to August 2020, clinical data were collected from 44 recipients (22 pairs) of kidney transplantation. Two kidneys from the same donor were randomly divided into observed and control groups. The immunosuppressive regimen of two groups was the same within 1 month post-transplantation, i. e. tacrolimus plus mycophenolatemofetil (or mycophenolate sodium) and prednisone. Then the immunosuppressive regimen of observed group was switched into a simplified once-daily regimen of sirolimus plus low-dose extended-release tacrolimus and prednisone while control group remained unchanged. The changes of graft function, proteinuria and the incidence of related adverse events were recorded.Results:No inter-group difference existed in serum level of creatinine at Month 1 post-transplantation (163.40±51.57 vs 166.10±49.48 μmol/L). After regimen conversion, serum level of creatinine was slightly lower in observed group than that in control group at Months 3 and 6 post-transplantation (130.10±30.10 vs 134.90±28.97, 121.50±24.96 vs 136.30±27.06). However, there was no statistic difference. The 24-hour urinary total trace protein was slightly higher in observed group than that in control group (331.20±84.21 vs 279.50±80.91 and 209.60±66.02 vs 179.50±37.60 mg/24 h) at Months 3 and 6 post-transplantation. However, there was no statistic difference. No inter-group difference existed in the incidence of drug side effects or other adverse events.Conclusions:In kidney transplant recipients at Month 1 post-transplantation, a conversion of immunosuppressive regimen into a simplified once-daily of sirolimus plus low-dose extended-release tacrolimus can significantly boost patient compliance without an elevated risk of drug side effects or adverse events and offer an advantage of reducing nephrotoxicity.