A Chromosome 9p24.1 Amplification in Colorectal Cancer with Metastases to the Kidney and Adrenal Gland: A Case Report. Case reports in oncology Colorectal cancer (CRC) is the third leading cause of mortality worldwide. The Food and Drug Administration recently designated pembrolizumab, an immune checkpoint inhibitor (ICI) against a programmed death-1 receptor, as a breakthrough drug for the treatment of patients with mCRC whose tumors have deficient mismatch-repair gene expression (as evidenced by microsatellite instability-high) and patients with solid tumors with a high tumor mutational burden with ≥10 mutations/megabase. We present a patient with metastatic CRC having renal and adrenal gland metastases. Comprehensive molecular profiling performed on a site of metastatic CRC in the kidney revealed multiple genomic alterations characteristic of CRC and rare chromosome 9p24.1 amplification, resulting in a co-amplification of the , and genes. Although this genomic alteration may predict the response to ICI, the lack of pembrolizumab prevented the patient from receiving targeted treatment and succumbing to the disease. 10.1159/000533377

Exploring the impact and utility of genomic sequencing in established CKD. Clinical kidney journal Clinical genetics is increasingly recognized as an important area within nephrology care. Clinicians require awareness of genetic kidney disease to recognize clinical phenotypes, consider use of genomics to aid diagnosis, and inform treatment decisions. Understanding the broad spectrum of clinical phenotypes and principles of genomic sequencing is becoming increasingly required in clinical nephrology, with nephrologists requiring education and support to achieve meaningful patient outcomes. Establishment of effective clinical resources, multi-disciplinary teams and education is important to increase application of genomics in clinical care, for the benefit of patients and their families. Novel applications of genomics in chronic kidney disease include pharmacogenomics and clinical translation of polygenic risk scores. This review explores established and emerging impacts and utility of genomics in kidney disease. 10.1093/ckj/sfae043

Microbiological epidemiology of preservation fluids in transplanted kidney: a nationwide retrospective observational study. Corbel A,Ladrière M,Le Berre N,Durin L,Rousseau H,Frimat L,Thilly N,Pulcini C Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases OBJECTIVES:Kidney transplant recipients are at high-risk for donor-derived infections in the early post-transplant period. Transplant preservation fluid (PF) samples are collected for microbiological analysis. In case of positive PF cultures, the risk for the recipient is unknown and there is no consensus for prescribing prophylactic antibiotics. This nationwide observational study aimed to determine the epidemiology of bacterial and fungal agents in kidney transplant PF cultures and identify risk factors associated with positive PF cultures. METHODS:We performed a retrospective observational study on the following data collected from a national database between October 2015 and December 2016: characteristics of donor, recipient, transplantation, infection in donor and PF microbiological data. RESULTS:Of 4487 kidney transplant procedures, including 725 (16.2%, 725/4487) from living donors, 20.5% had positive PF cultures (living donors: 1.8%, 13/725; deceased donors: 24.1%, 907/3762). Polymicrobial contamination was found in 59.9% (485/810) of positive PF cultures. Coagulase-negative staphylococci (65.8%, 533/810) and Enterobacteriaceae (28.0%, 227/810) were the most common microorganisms. Factors associated with an increased risk of positive PF cultures in multivariable analysis were (for deceased-donor kidney transplants): intestinal perforation during procurement (OR 4.4, 95% CI 2.1-9.1), multiorgan procurement (OR 1.4, 95% CI 1.1-1.7) and en bloc transplantation (OR 2.5, 95% CI 1.3-4.9). Use of perfusion pump and donor antibiotic therapy were associated with a lower risk of positive PF cultures (OR 0.4, 95% CI 0.3-0.5 and OR 0.6, 95% CI 0.5-0.7, respectively). CONCLUSION:In conclusion, 24% of deceased-donor PF cultures were positive, and PF contamination during procurement seemed to be the major cause. 10.1016/j.cmi.2019.07.018

Clinical outcomes and risk factors for mortality in recipients with carbapenem-resistant gram-negative bacilli infections after kidney transplantation treated with ceftazidime-avibactam: a retrospective study. Frontiers in cellular and infection microbiology Background:Ceftazidime-avibactam is a treatment option for carbapenem-resistant gram-negative bacilli (CR-GNB) infections. However, the risk factors associated with ceftazidime-avibactam (CAZ-AVI) treatment failure in kidney transplant (KT) recipients and the need for CAZ-AVI-based combination therapy remain unclear. Methods:From June 2019 to December 2023, a retrospective observational study of KT recipients with CR-GNB infection treated with CAZ-AVI was conducted, with the primary outcome being 30-day mortality and secondary outcomes being clinical cure, microbiological cure, and safety. Risk factors for 30-day mortality and clinical failure were also investigated. Results:A total of 81 KT recipients treated with CAZ-AVI were included in this study. Forty recipients (49.4%) received CAZ-AVI monotherapy, with a 30-day mortality of 22.2%. The clinical cure and microbiological cure rates of CAZ/AVI therapy were 72.8% and 66.7%, respectively. CAZ-AVI alone or in combination with other medications had no effect on clinical cure or 30-day mortality. Multivariate logistic regression analysis revealed that a higher Acute Physiology and Chronic Health Evaluation (APACHE) II score (odds ratio [OR]: 4.517; 95% confidence interval [CI]: 1.397-14.607; = 0.012) was an independent risk factor for 30-day mortality. Clinical cure was positively associated with the administration of CAZ-AVI within 48 hours of infection onset (OR: 11.009; 95% CI: 1.344-90.197; =0.025) and negatively associated with higher APACHE II scores (OR: 0.700; 95% CI: 0.555-0.882; =0.002). Four (4.9%) recipients experienced recurrence within 90 days after the initial infection, 3 (3.7%) recipients experienced CAZ-AVI-related adverse events, and no CAZ-AVI resistance was identified. Conclusion:CAZ-AVI is an effective medication for treating CR-GNB infections following kidney transplantation, even as monotherapy. Optimization of CAZ/AVI therapy (used within 48 hours of infection onset) is positively associated with potential clinical benefit. Further larger-scale studies are needed to validate these findings. 10.3389/fcimb.2024.1404404