Introduction: Genetic kidney disease (GKD) accounts for 10% to 20% of chronic kidney disease (CKD). Genetic testing using gene panel or targeted exome sequencing (ES) can confirm GKD; however, integration into clinical practice has been hampered by small studies, selective populations, and data predominately derived from research settings. Using prespecified clinical referral criteria and a diagnostic pipeline, we performed a prospective cohort study describing diagnostic efficacy and clinical utility of genetic assessment in patients with CKD.
View Article and Find Full Text PDFAmniotic epithelial cells (AECs) exhibit significant immunomodulatory and pro-regenerative properties, largely due to their intrinsic paracrine functions that are currently harnessed through the collection of their secretomes. While there is increasing evidence of the role of bioactive components freely secreted or carried by exosomes, the bioactive cargo of AEC microvesicles (MVs) and their crosstalk with the immune cells remains to be fully explored. We showed that under intrinsic conditions or in response to LPS, AEC-derived MV carries components such as lipid-mediated signaling molecules, ER, and mitochondria.
View Article and Find Full Text PDFBackground: Prostate cancer (PrCa) is a significant health concern, ranking as the second most common cancer in males globally. Genetic factors contribute substantially to PrCa risk, with up to 57% of the risk being attributed to genetic determinants. A major challenge in managing PrCa is the early identification of aggressive cases for targeted treatment, while avoiding unnecessary interventions in slow-progressing cases.
View Article and Find Full Text PDFObjective: Tuberous sclerosis complex (TSC) is a monogenetic disorder associated with sustained mechanistic target of rapamycin (mTOR) activation, leading to heterogeneous clinical manifestations. Epilepsy and renal angiomyolipoma are the most important causes of morbidity in adult people with TSC (pwTSC). mTOR is a key player in inflammation, which in turn could influence TSC-related clinical manifestations.
View Article and Find Full Text PDFObjective: To compare preoperative and postoperative cross-sectional areas (CSAs) of the external nares and nasal vestibule on computed tomography (CT) transverse sections in brachycephalic dogs that underwent a vestibuloplasty in combination with either a Trader's technique or vertical wedge resection rhinoplasty.
Methods: Medical records and corresponding preoperative and postoperative head computed tomographic images were reviewed to measure CSA at two defined points on transverse sections of the nasal cavities.
Results: Nine brachycephalic dogs were included for analysis.