Allele-specific polymerase chain reaction can determine the diplotype of NUDT15 variants in patients with childhood acute lymphoblastic Leukemia.

Mercaptopurine intolerance is an adverse effect of mercaptopurine administration in pediatric patients with acute lymphoblastic leukemia (ALL). NUDT15 variants have emerged as major determinants of mercaptopurine intolerance, especially in the Asian population. Two variants, c.55_56insGAGTCG in exon 1 and c.415C > T in exon 3, were commonly detected in the same allele, named NUDT15*1/*2. Although rare, compound heterozygous mutations also occur, with the two variants on different alleles (NUDT15*3/*6), which may confer tolerance to considerably lesser mercaptopurine dosage. Sanger sequencing or pyrosequencing can determine the NUDT15 variants but not the phase. Here, we designed an allele-specific PCR (AS-PCR) with locked nucleic acid-modified primers. A cohort of 63 patients harboring heterozygous c.55_56insGAGTCG and c.415C > T NUDT15 variations was selected for haplotyping using AS-PCR. Of the 63 patients, 60 harbored the NUDT15*1/*2 variant and three harbored compound heterozygous mutations, including two NUDT15*3/*6 and one NUDT15*2/*7 variants. These findings suggest that AS-PCR can determine NUDT15 diplotype and identify patients with compound heterozygous NUDT15 variants, which may enable precise genetic diagnosis of NUDT15. Nevertheless, a larger clinical trial is required to understand the clinical significance of NUDT15*3/*6 in pediatric patients with ALL because of its low incidence rate and challenges in detecting this variant.

Synthesis of biocontrol macromolecules by derivative of chitosan with surfactin and antifungal evaluation.

A derivative of chitosan was prepared with chitosan and ß-cyclodextrins, which was synthesized by the immobilization reaction, as a carrier to adsorb surfactin produced from Bacillus amyloliquefaciens and got biological macromolecules. The antifungal activity against three sapstain fungi by a combination of macromolecules was tested. The results showed that the macromolecules inhibited the mycelium growth of sapstain fungi Lasiodiplodia rubropurpurea, L. crassispora, and L. theobromae by about 73.22%, 76.72%, and 70.22%, respectively. The macromolecules were relatively thermally stable with more than 50% of the antifungal activity even after being held at 121°C for 30 min. Meanwhile, the activity of the macromolecules remained more than 55% at a pH value ranging from 4 to 12. The macromolecules were resistant to hydrolysis by most protein-denaturing detergents and other enzymes. The results indicated the macromolecules might provide an alternative bioresource for the bio-control of sapstain.

[Application value of scrotal ultrasonography in the etiological diagnosis of azoospermia].

OBJECTIVE: To evaluate the application of scrotal ultrasonography in the diagnosis of the causes of azoospermia. METHODS: We performed scrotal ultrasonography for 96 patients with azoospermia, and analyzed the ultrasonographic images in comparison with the results of the final diagnosis. RESULTS: Based on the characteristics of the ultrasonographic images, 35 of the cases were diagnosed as obstructive azoospermia and the other 61 as non-obstructive azoospermia, with an accuracy rate of 97.0%. The causes and sites of the lesions were manifested in 44.4% of the obstructive and 46.7% of the non-obstructive cases, with accuracy rates of 100% and 75.0%, respectively. As for the rest of the cases, scrotal ultrasonography helped narrow the scope of further examinations by giving directional indications. CONCLUSION: Scrotal ultrasonography is an essential means for the diagnosis of the causes of azoospermia, or for obtaining directional indications of its causes.

[Local thermotherapy with rabdosia liquid as prophylactic measure for recurrence of superficial urinary bladder carcinoma: a non-randomized contemporary controlled study].

OBJECTIVE: To compare the actions of local thermotherapy with rabdosia liquid and repeated perfusion of mitomycin C for the postoperative prophylaxis of superficial urinary bladder carcinoma. METHODS: In the prospective non-randomized contemporary controlled study, 123 patients were divided into 2 groups. The patients in group A received local thermotherapy with rabdosia liquid starting from 1-2 months after operation, once tri-monthly for one year. Those in group B received intravesical perfusion of mitomycin C, starting from 2 weeks after operation, once weekly, six times in total, thereafter once monthly for one year. The recurrence rate, disease free interval, and adverse reaction after operation were observed. RESULTS: The follow-up lasted for 10-45 months with the average of 28.6 +/- 5.8 months. The recurrence rates in group A and B were 5.0% and 14.3%, respectively. Significant difference was shown when compared by Kaplan-Meier analysis of disease free interval and the recurrence rate between the two groups (P < 0.05). The occurrence rates of cystitis, hematuria, vesical contracture, urethral stricture were 28.3%, 5.0%, 1.7%, 1.7%, respectively in group A, 25.4%, 4.8%, 0%, 0%, respectively in group B, showing no significant difference between the two groups (P > 0.05). CONCLUSION: The effect of local thermotherapy with rabdosia liquid is reliable in preventing the recurrence of superficial urinary bladder transitional cell carcinoma.