• mutations
  • In addition, deregulation of the PGC-1α-TFAM signaling axis is most pronounced in renal tumors that harbor FLCN mutations and in tumors from other organs that have relatively low expression of FLCN . (biomedcentral.com)
  • Hereditary pancreatitis is a genetic disorder most commonly caused by mutations in autosomal genes such as protease, serine 1 (PRSS1), serine protease inhibitor Kazal type 1 (SPINK 1), and cystic fibrosis transmembrane conductance regulator (CFTR). (cancerlink.ru)
  • diagnosis
  • In general the absence of epithelial markers in translocation carcinomas are powerful clues to the diagnosis. (humpath.com)
  • Sclerotic bone lesions, renal angiomyolipoma, and brain lesions support the latter diagnosis. (blogspot.com)
  • He had received some iv contrast a day before his creatinine started rising, and before we examined the urine sediment I was pretty certain the diagnosis was going to be either hepatorenal syndrome or contrast-induced nephropathy. (blogspot.com)
  • Prior to molecular genetic breakthroughs, one was required to depend upon the cardinal features of the Lynch syndrome, since there were no premonitory signs or biomarkers to guide diagnosis. (cancerlink.ru)
  • Any of these conditions that occurs in a family can indicate a diagnosis of Birt-Hogg-Dubé syndrome, though it is only confirmed by a genetic test for a mutation in the FLCN gene, which codes for the protein folliculin. (wikipedia.org)
  • Birt-Hogg-Dubé syndrome can manifest similarly to other diseases, which must be ruled out when making a diagnosis. (wikipedia.org)
  • susceptibility
  • Hereditary factors have a minor impact on individual susceptibility with immediate relatives of people with RCC having a two to fourfold increased risk of developing the condition. (wikipedia.org)
  • Individuals
  • It turns out that the starfruit contains an as-yet unidentified substance which is renally cleared which may act as a neurotoxin in individuals with severely reduced renal clearance. (blogspot.com)
  • malignant
  • To determine the genetic etiology of hereditary urologic malignant disorders in which the gene defect is unknown, by linkage analysis, positional cloning and evaluation of candidate genes. (clinicaltrials.gov)
  • Vascular
  • Over the last two decades, advances in renal imaging, renal and vascular surgery (such as improved methods for prevention of ischemic renal damage), and the significant increase in the rate of incidentally discovered small renal masses have all driven the renewed enthusiasm for nephron-sparing surgery (NSS). (cancerlink.ru)
  • patients
  • To evaluate the precision of the centrality index (CI) measurement on three-dimensional (3D) volume rendering technique (VRT) images in patients with renal masses, compared to its standard measurement on axial images. (livermr.com)
  • Value of three-dimensional volume rendering images in the assessment of the centrality index for preoperative planning in patients with renal masses. (livermr.com)
  • NSS is the preferred treatment for localized renal masses, particularly in patients at risk of renal dysfunction. (cancerlink.ru)
  • Bilateral renal tumors are reported in 1-5% of patients. (cancerlink.ru)
  • In these patients, it is crucial to preserve as much functioning renal tissue as possible. (cancerlink.ru)
  • In these circumstances, it is crucial to counsel patients that temporary or permanent renal replacement therapy may be necessary postoperatively. (cancerlink.ru)
  • Typically seen in in patients with Sjögren syndrome, human immunodeficiency virus infection, and variable immunodeficiency syndromes. (blogspot.com)
  • In patients with CKD, oxalate crystal deposition may accelerate renal deterioration. (blogspot.com)
  • masses
  • This chapter outlines the indications, techniques, and outcomes that support NSS as the treatment of choice for localized renal masses. (cancerlink.ru)
  • morbidity
  • At this time, however, PN was associated with significant complications, including renal bleeding, urinary fistula, and death as compared with total nephrectomy, which had a lower operative morbidity and satisfactory long-term results. (cancerlink.ru)
  • The fact that NSS can be performed safely with low morbidity, good preservation of renal function and sound oncologic outcomes is not debated, however, recent data suggests that NSS continues to be underutilized. (cancerlink.ru)
  • pancreatic
  • This and other studies reported increasing numbers of total pancreatectomies being performed for hereditary pancreatitis and IPMNs, both strong risk factors for pancreatic ductal adenocarcinoma [1, (cancerlink.ru)
  • Occasionally
  • Occasionally a partial rather than RN on the second side is necessary to avoid chronic kidney disease (CKD) when the initial procedure results in a renal remnant of borderline size or function. (cancerlink.ru)
  • disease
  • renal carcinoma associated with end-stage renal disease is now recognized as having distinct morphological patterns and behavior. (humpath.com)
  • We now know this as "nephrotic syndrome", even though "Bright's Disease" is considered by many as the first "named disease" which was named after its discoverer. (blogspot.com)
  • cases
  • Some cases may also stain for melanocytic markers, but this is more common in TFEB positive t(6:11) translocation carcinomas. (humpath.com)
  • either
  • RCC is also associated with a number of paraneoplastic syndromes (PNS) which are conditions caused by either the hormones produced by the tumour or by the body's attack on the tumour and are present in about 20% of those with RCC. (wikipedia.org)