CM-1 Chiari malformation type I WESWhole-exome sequencing ALPL gene Alkaline phosphatase liver/bone/kidney gene Chiari malformation type I (CM-1), scoliosis, tethered cord and diastematomyelia are relatively rare spinal and intraspinal deformities.It is not uncommon for these diseases to occur individually, but it is extremely rare for them to occur simultaneously in a patient.To our knowledge, such a case has not been reported.Herein, we report a case of an adolescent suffering from CM-1 with syringomyelia who simultaneously had scoliosis, tethered cord and diastematomyelia.Whole-exome sequencing (WES) was performed to explore and illustrate the genetic basis.
Abstract Patients of non-small cell lung cancer (NSCLC) with activated EGFR mutations is more apt to develop leptomeningeal metastasis (LM) than the other types of lung cancers [1]. Examination of circulating tumor DNA (ctDNA) in cell-free cerebrospinal fluid (CSF) has been shown to be useful in detecting the genomic mutations of tumors in central nervous system (CNS) and has also been used to monitor tumor progression and evaluate the response to treatments [2]. Osimertinib, a third-generation EGFR tyrosine kinase inhibitor, is considered to be a recent standardized treatment for EGFR Thr790Met-mutant NSCLC because of its good efficacy in both systemic and CNS metastasis [3].
Ectopic renal hydronephrosis is a relatively rare condition, with literature primarily consisting of scattered case studies. The ectopic kidney poses technical challenges to surgeons due to its structural and anatomical abnormalities. This study aims to share our initial experiences with minimally invasive pyeloplasty as a management approach for ectopic renal hydronephrosis in adult patients.
Background. Flow diversion (FD) has become a widely adopted treatment method for intracranial aneurysms in the clinic, but a comprehensive meta-analysis of large-sample studies including anterior and posterior circulation is still lacking. Methods. The PubMed, Embase, Web of Science, and Cochrane databases were searched between January 1, 2008, and December 1, 2019. A random-effect model was used to calculate the efficacy and safety data as well as 95% confidence intervals (CIs). Results. The pooled sample size of all included studies was 6695 patients; the mean age was 55.5 years old, with a total of 7406 aneurysms. For efficacy, the complete occlusion rate in angiographic follow-up (AFU) at 6 months was 78% (95% CI, 0.77, 0.80), and the AFU rate at 6-12 months was 90% (95% CI, 0.88, 0.92). For safety, the hemorrhagic event rate was 2%, the ischemic event rate was 5%, and the mortality rate was 3%. Conclusion. FD is an effective and safe treatment for intracranial aneurysm with high complete occlusion rate and acceptable complication rate.
Table S1. Diameter of the ureters in the experimental group and control group. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
e14699 Background: The expanded utilization of immune checkpoint inhibitors (ICIs) have successfully improved the outcome of cancer patients, yet the concomitant immune-related adverse events (irAEs) can lead to fulminant unfavorable consequences. Currently, a comprehensive approach to predict irAEs is lacking. Some relevant biomarkers derived from database analyses are still in the early stages of investigation and lack robust validation in clinical samples, including LCP1/ADPGK. Herein, we validated the performance of LCP1 and ADPGK in a retrospective patient cohort with advanced urological cancers undergoing ICIs treatment, while comparing the predictive efficacy between different algorithmic models. Methods: We retrospectively collected clinical data of patients with renal cell carcinoma (RCC), upper urinary tract epithelial carcinoma (UTUC), bladder cancer (BC) receiving anti-PD-1/PD-L1 treatment from 2020 to 2023 in Peking University First Hospital. Patients were categorized into irAEs and non-irAEs groups, with irAE assessments conducted by two expert urological oncologists. Immunohistochemistry (IHC) was performed on 5-µm-thick pre-treated FFPE tumor tissue sections. Results: A total of 112 patients were included in the study, comprising 60 with RCC, 21 with UTUC, and 31 with BC. Among them, 51 (45.5%) patients experienced irAEs, with 9 exhibiting severe irAEs of grade III-IV. Immunohistochemical analysis revealed higher expression levels of LCP1 and ADPGK in patients with irAEs compared to those without irAEs. The area under the receiver-operating characteristic curve (AUC) for predicting irAEs using LCP1 and ADPGK individually was 0.82 (p < 0.0001, 95%CI = 0.74-0.90) and 0.86 (p < 0.0001, 95%CI = 0.80-0.93), respectively. The combination of LCP1 and ADPGK demonstrated an improved AUC of 0.89 (p < 0.0001, 95%CI = 0.83-0.95). Among different algorithms, the bivariate linear-regression and the geometric mean model show similar prediction effects. Notably, the combined LCP1+ADPGK model successfully predicted irAEs in RCC (AUC = 0.89, p < 0.0001, 95%CI = 0.81-0.98), UTUC (AUC = 0.81, p = 0.0063, 95%CI = 0.63-0.99), and BC (AUC = 0.88, p = 0.0004, 95%CI = 0.75-1.00). The expression of LCP1/ADPGK was not associated with the type of cancers. Conclusions: The bivariate linear-regression model of LCP1 and ADPGK could accurately predict irAEs in patients with urological cancers, which may allow us to improve the risk-benefit balance for individuals considered for ICIs therapy.
'/%3e%3cuse xlink:href='%23a' transform='rotate(23.036 .093 25.536)'/%3e%3cuse xlink:href='%23a' transform='rotate(45.87 1.273 16.18)'/%3e%3cuse xlink:href='%23a' transform='rotate(69.945 .996 12.078)'/%3e%3cuse xlink:href='%23a' transform='rotate(20.66 -19.689 31.932)'/%3e%3c/svg%3e)