Genetic analysis of a Chinese pedigree with chronic kidney disease due to variant of PAX2 gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis of a Chinese pedigree affected with chronic kidney disease (CKD).@*METHODS@#A Chinese pedigree comprised of 10 individuals from four generation who had visited the First Affiliated Hospital of Dali University from August 15, 2018 to July 5, 2021 was selected as the study subject. Clinical data of the proband were collected, and a pedigree survey was conducted. The proband was subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#The proband, a 41-year-old female, has been diagnosed with chronic nephritis for more than 4 years. Routine urinary examination showed proteinuria and blood creatinine of 1 130 μmol/L. Renal biopsy has revealed hyperplastic glomerulonephritis, moderate tubulointerstitial disease and renal arteriosclerosis. Her elder sister, younger brother, younger sister and mother were all diagnosed with CKD stage 5. Except for her elder sister, all of them had deceased, whilst no abnormality was found in the remainders. Genetic testing revealed that the proband and four family members had harbored a c.467G>A missense variant of the PAX2 gene. The variant has been associated with focal segmental glomerulosclerosis and classified as likely pathogenic (PS1+PP3+PP4) based on the guidelines from the American College of Medical Genetics and Genomics (ACMG).@*CONCLUSION@#The c.167G＞A variant of the PAX2 gene probably underlay the CKD in this Chinese pedigree.

Application and prospect of artificial intelligence in diagnosis, treatment and prognosis of prostate cancer / 中华泌尿外科杂志

Prostate cancer is one of the most common malignant tumors in the world.Without typical early manifestations in the early stage, it is often too late when found. Therefore, early diagnosis, treatment, and prognosis are critical to improving the survival rate of patients with prostate cancer. Over the past few years, artificial intelligence(AI) has developed rapidly in the field of prostate cancer. In terms of diagnosis, AI is used as a tool to screen the images to reduce the error caused by the professionalism and subjectivity of the technician and to improve the repeatability of the results; In the prediction of prognosis, the algorithm calculates and evaluates disease-related parameters such as recurrence rate, lymph node metastasis rate and mortality rate, so as to assistant clinicians in decision-making and treatment improvements. This reviews aims to introduce the application of artificial intelligence in the diagnosis, treatment and prognosis of prostate cancer in recent years, as well as the prospect and challenges faced by artificial intelligence in the medical field.