In the same way that renal transcatheter arterial embolisation (TAE) has demonstrated its effectiveness and safety compared with nephrectomy of the polycystic kidney at the time of transplantation, we propose that TAE can be a minimally invasive option in the surgical preparation for incisional hernia repair in order to reduce the compressive effect of the polycystic kidney, creating space and ensuring safe hernia repair. The objective of this article is to describe the first case in which TAE is used in advance of incisional hernia secondary to renal transplantation in patients with autosomal dominant polycystic kidney disease.
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http://dx.doi.org/10.1136/bcr-2023-256219 | DOI Listing |
Clin Genet
December 2024
Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul, Turkey.
Renal ciliopathies are a genetically and phenotypically heterogeneous group of diseases characterized by cystic and dysplastic kidneys. The aim of this study was to investigate the correlation between genetic changes that cause renal ciliopathies and phenotypic outcomes. The study group consisted of 137 patients diagnosed with renal ciliopathy disease.
View Article and Find Full Text PDFFront Med (Lausanne)
December 2024
Department of Medicine, Service of Nephrology, Fribourg State Hospital, Fribourg, Switzerland.
Aim Of The Study: Tuberous sclerosis complex (TSC) is a genetic and multisystemic disorder that affects between 1/6'000 and 1/10'000 of newborns. Clinical criteria and/or genetic analysis establish the diagnosis. The mechanistic target of rapamycin (mTOR) inhibitors everolimus or sirolimus reduce the severity of several TSC-related clinical traits.
View Article and Find Full Text PDFNAR Mol Med
October 2024
Department of Biology, Tufts University, 200 Boston Ave., Medford, MA 02155, USA.
H-DNA is an intramolecular DNA triplex formed by homopurine/homopyrimidine mirror repeats. Since its discovery, the field has advanced from characterizing the structure to discovering its existence and role . H-DNA interacts with cellular machinery in unique ways, stalling DNA and RNA polymerases and causing genome instability.
View Article and Find Full Text PDFFront Pediatr
December 2024
Department of Internal Medicine, North China University of Science and Technology, Tangshan, China.
Background: Autosomal dominant tubulointerstitial kidney disease (ADTKD) caused by -causing pathogenic variants (ADTKD-) is a rare group of heritable diseases. ADTKD- often manifests in childhood with symptoms such as mild hypotension, chronic kidney disease, hyperkalemia, anemia, and acidosis. The diagnosis of ADTKD- remains challenging.
View Article and Find Full Text PDFAbdom Radiol (NY)
December 2024
Mallinckrodt Institute of Radiology, Washington University School of Medicine, Saint Louis, MO, USA.
Biliary and peribiliary cystic lesions represent a diverse group of abnormalities, often discovered incidentally during imaging for unrelated conditions. These lesions, typically asymptomatic, necessitate precise imaging modalities to characterize their nature and determine subsequent clinical actions, such as follow-up imaging, biopsy, or surgical referral. The anatomic location of these cystic lesions, whether biliary or peribiliary, influences both diagnostic and prognostic outcomes.
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