- Attenuation and Degree of Enhancement With Conventional 120-kVp Polychromatic CT and 70-keV Monochromatic Rapid Kilovoltage-Switching Dual-Energy CT in Cystic and Solid Renal Masses. [Journal Article]
- AAAJR Am J Roentgenol 2018 Aug 14; :1-8
- CONCLUSIONS: There are no differences in absolute attenuation or degree of enhancement comparing 70-keV monochromatic CT to conventional 120-kVp CT in renal cysts and solid masses.
- Mechanism of Fibrosis in HNF1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease. [Journal Article]
- JAJ Am Soc Nephrol 2018 Aug 10
- CONCLUSIONS: Ablation of HNF-1β in renal epithelial cells leads to the activation of a Twist2-dependent transcriptional network that induces EMT and aberrant TGF-β signaling, resulting in renal fibrosis through a cell-nonautonomous mechanism.
- Massive seminal vesicle cyst with ipsilateral renal agenesis - Zinner syndrome in a Saudi patient. [Journal Article]
- UAUrol Ann 2018 Jul-Sep; 10(3):333-335
- Zinner syndrome is a rare male genitourinary tract disorder associated with seminal vesicle cysts and ipsilateral renal agenesis. Clinical presentation often involves symptoms of the genitourinary tr...
Zinner syndrome is a rare male genitourinary tract disorder associated with seminal vesicle cysts and ipsilateral renal agenesis. Clinical presentation often involves symptoms of the genitourinary tract. We present a case report of a young Saudi male, presenting with nonspecific symptoms of fatigue and malaise. Ultrasound visualized a massive seminal vesicle cyst associated with ipsilateral renal agenesis. The cyst was managed using a laparoscopic technique without any immediate complications and an uneventful postoperative period.
- Simultaneous treatment of parapelvic renal cysts and stones by flexible ureterorenoscopy with a novel four-step cyst localization strategy. [Journal Article]
- IBInt Braz J Urol 2018 Jul 30; 44
- CONCLUSIONS: With appropriate patient selection, FURSL and marsupialization with a four-step cyst localization strategy is feasible, safe, and effective in treating parapelvic renal cysts with concomitant calculi.
- Molecular Study of Nephronophthisis in 7 Unrelated Pakistani Families. [Journal Article]
- IJIran J Kidney Dis 2018; 12(4):240-242
- Nephronophthisis is an autosomal recessive cystic kidney disease characterized by tubular interstitial infiltration, periglomerular fibrosis, and cysts, and is the most frequent genetic cause of end-...
Nephronophthisis is an autosomal recessive cystic kidney disease characterized by tubular interstitial infiltration, periglomerular fibrosis, and cysts, and is the most frequent genetic cause of end-stage renal disease in children. Nephronophthisis is pleiotropic as almost all the causative genes are involved in primary cilium and centrosome function which are found in almost all human cells. Genetic heterogeneity in nephronophthisis makes the molecular and genetic diagnosis somewhat difficult. Homozygous deletions in the nephronophthisis 1 (NPHP1) gene are the major contributor of nephronophthisis cases, while other genes accounts for less than 3% each. Nephronophthisis-related ciliopathy is a term used for extrarenal symptoms in addition to nephronophthisis. Herein, we are reporting the molecular study of 7 children from independent families fulfilling the criteria of nephronophthisis. A deletion analysis of the NPHP1 gene was performed in each case, and NPHP5 mutation screening was performed in the absence of such deletion in patients with Senior Loken syndrome.
- A Rare Cause of Recurrent Spontaneous Pneumothorax: Birt-Hogg-Dube Syndrome. [Journal Article]
- TTTurk Thorac J 2018; 19(3):150-152
- Birt-Hogg-Dube (BHD) syndrome is an unusual disorder characterized by the triad of cutaneous lesions, renal tumors and lung cysts. In cases with BHD syndrome, the frequency of recurrent pneumothorax ...
Birt-Hogg-Dube (BHD) syndrome is an unusual disorder characterized by the triad of cutaneous lesions, renal tumors and lung cysts. In cases with BHD syndrome, the frequency of recurrent pneumothorax is increased due to presence of multiple lung cysts. It is important to evaluate the BHD syndrome in differential diagnosis of recurrent pneumothorax especially with multiple lung cysts predominating in the lung base. In these patients, the presence of accompanying kidney and other tumors should be investigated. Herein, we report a case of BHD syndrome presenting with recurrent pneumothorax.
- Long-term Surveillance of Complex Cystic Renal Masses & Heterogeneity of Bosniak 3 Lesions. [Journal Article]
- JUJ Urol 2018 Aug 01
- CONCLUSIONS: Diagnostic change among Bosniak 3s and 2F cysts is common; Bosniak 3n cysts behave more like Bosniak 4. Most complex kidney cysts can be safely monitored without intervention and the interval between serial imaging should be increased.
- Polycystin-1, the product of the polycystic kidney disease gene PKD1, is post-translationally modified by palmitoylation. [Journal Article]
- MBMol Biol Rep 2018 Aug 02
- Multiple distinct mutations in the protein polycystin 1 (PC1) cause autosomal dominant polycystic kidney disease (ADPKD), a common cause of end stage renal disease. Growing evidence supports the theo...
Multiple distinct mutations in the protein polycystin 1 (PC1) cause autosomal dominant polycystic kidney disease (ADPKD), a common cause of end stage renal disease. Growing evidence supports the theory that the severity and rate of progression of kidney cysts is correlated with the level of functional PC1 expressed in the primary cilia. Factors that regulate trafficking of PC1 to cilia are thus of great interest both as potential causes of ADPKD, but also as possible modifiable factors to treat ADPKD. Cysteine palmitoylation is a common post-translational modification that frequently alters protein trafficking, localization, and expression levels. Here, using multiple complementary approaches, we show that PC1 is palmitoylated, likely at a single cysteine in the carboxyl terminal fragment that is generated by autoproteolysis of PC1. Additional data suggest that protein palmitoylation is important for PC1 localization and expression levels. These data together identify palmitoylation as a novel post-translational modification of PC1 and a possible pharmacologic target to augment PC1 expression in cilia.
- Crizotinib. [Journal Article]
- RRRecent Results Cancer Res 2018; 211:57-65
- Crizotinib is an ATP-competitive small-molecule inhibitor of the receptor tyrosine kinases (RTK) C-Met, ALK and ROS1. There is a robust effectiveness in non-small-cell lung cancer (NSCLC) harbouring ...
Crizotinib is an ATP-competitive small-molecule inhibitor of the receptor tyrosine kinases (RTK) C-Met, ALK and ROS1. There is a robust effectiveness in non-small-cell lung cancer (NSCLC) harbouring EML4-ALK-rearrangements resulting in constitutional activation of the ALK-RTK. The drug is approved for this entity, which represents no more than 3-5% of all NSCLC. However, in this population, impressive response rates are generated. The same is true for ROS-1 rearrangements; however, these only occur in approximately 1% of all NSCLC. In small series, efficacy is also reported in patients, whose tumours harbour a MET Exon 4 skipping mutation (approx. 3% of all NSCLC). Toxicities include visual impairment, nausea, peripheral edema, QT-prolongation and liver-enzyme elevation. Also, the occurrence of renal cysts is reported. The detection of ALK-protein by immunohistochemistry is a predictor of efficacy for crizotinib. In cases of doubt, fluorescence in situ hybridisation (FISH) detecting the ALK-rearrangement has to be performed on tumour tissue. FISH is also the method of choice to detect ROS1-rearrangement, whereas MET-mutations are detected by sequencing methods. The high efficacy of crizotinib in ALK- and ROS-rearranged as well as MET mutated lung cancer as new molecular targets beside the epidermal growth factor receptor (EGFR) underscores the importance of molecular typing in NSCLC.
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- mTORC1 Upregulation Leads to Accumulation of the Oncometabolite Fumarate in a Mouse Model of Renal Cell Carcinoma. [Journal Article]
- CRCell Rep 2018 Jul 31; 24(5):1093-1104.e6
- Renal cell carcinomas (RCCs) are common cancers diagnosed in more than 350,000 people each year worldwide. Several pathways are de-regulated in RCCs, including mTORC1. However, how mTOR drives tumori...
Renal cell carcinomas (RCCs) are common cancers diagnosed in more than 350,000 people each year worldwide. Several pathways are de-regulated in RCCs, including mTORC1. However, how mTOR drives tumorigenesis in this context is unknown. The lack of faithful animal models has limited progress in understanding and targeting RCCs. Here, we generated a mouse model harboring the kidney-specific inactivation of Tsc1. These animals develop cysts that evolve into papillae, cystadenomas, and papillary carcinomas. Global profiling confirmed several metabolic derangements previously attributed to mTORC1. Notably, Tsc1 inactivation results in the accumulation of fumarate and in mTOR-dependent downregulation of the TCA cycle enzyme fumarate hydratase (FH). The re-expression of FH in cellular systems lacking Tsc1 partially rescued renal epithelial transformation. Importantly, the mTORC1-FH axis is likely conserved in human RCC specimens. We reveal a role of mTORC1 in renal tumorigenesis, which depends on the oncometabolite fumarate.