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https://www.readbyqxmd.com/read/29444170/genotypic-and-phenotypic-characterization-of-the-sdccag8tn-sb-tyr-2161b-ca1c2ove-mouse-model
#1
Katie Weihbrecht, Wesley A Goar, Calvin S Carter, Val C Sheffield, Seongjin Seo
Nephronophthisis-related ciliopathies (NPHP-RC) are a group of disorders that present with end-stage renal failure in childhood/adolescence, kidney cysts, retinal degeneration, and cerebellar hypoplasia. One disorder that shares clinical features with NPHP-RC is Bardet-Biedl Syndrome (BBS). Serologically defined colon cancer antigen 8 (SDCCAG8; also known as NPHP10 and BBS16) is an NPHP gene that is also associated with BBS. To better understand the patho-mechanisms of NPHP and BBS caused by loss of SDCCAG8 function, we characterized an SDCCAG8 mouse model (Sdccag8Tn(sb-Tyr)2161B...
2018: PloS One
https://www.readbyqxmd.com/read/29436846/effect-of-dimethyl-fumarate-on-renal-disease-progression-in-a-genetic-ortholog-of-nephronophthisis
#2
Oliver Oey, Padmashree Rao, Magdalena Luciuk, Carly Mannix, Natasha M Rogers, Priyanka Sagar, Annette Wong, Gopala Rangan
Dimethyl fumarate is an FDA-approved oral immunomodulatory drug with anti-inflammatory properties that induces the upregulation of the anti-oxidant transcription factor, nuclear factor erythroid-derived factor 2. The aim of this study was to determine the efficacy of dimethyl fumarate on interstitial inflammation and renal cyst growth in a preclinical model of nephronophthisis. Four-week-old female Lewis polycystic kidney disease (a genetic ortholog of human nephronophthisis-9) rats received vehicle (V), 10 mg/kg (D10) or 30 mg/kg (D30) ( n = 8-9 each) dimethyl fumarate in drinking water for eight weeks...
January 1, 2018: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/29430229/pancreatic-pseudocyst-ruptured-due-to-acute-intracystic-hemorrhage
#3
Kunishige Okamura, Masanori Ohara, Tsukasa Kaneko, Tomohide Shirosaki, Aki Fujiwara, Takumi Yamabuki, Ryo Takahashi, Kazuteru Komuro, Nozomu Iwashiro, Noriko Kimura
Rupture of pancreatic pseudocyst is one of the rare complications and usually results in high mortality. The present case was a rupture of pancreatic pseudocyst that could be treated by surgical intervention. A 74-year-old man developed abdominal pain, vomiting, and diarrhea, and he was diagnosed with cholecystitis and pneumonia. Three days later, acute pancreatitis occurred and computed tomography (CT) showed slight hemorrhage in the cyst of the pancreatic tail. After another 10 days, CT showed pancreatic cyst ruptured due to intracystic hemorrhage...
September 2017: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/29426622/atypical-hemolytic-uremic-syndrome-an-unusual-postoperative-complication
#4
S Mota, C Filipe, A L Almeida
INTRODUCTION AND OBJECTIVES: Thrombotic thrombocytopenic purpura and atypical haemolytic uremic syndrome (aHUS) are acute, rare, life-threatening thrombotic microangiopathies that require swift management. We report a case of acute microangiopathic haemolytic anaemia (MAHA) presenting in perioperative setting. CLINICAL CASE: After hepatic pericystectomy for hydatid cyst, a 46-year-old female developed MAHA, thrombocytopenia and acute renal failure in the immediate postoperative period...
February 6, 2018: Revista Española de Anestesiología y Reanimación
https://www.readbyqxmd.com/read/29424336/a-novel-umod-gene-mutation-associated-with-chronic-kidney-failure-at-a-young-age
#5
Nicolina Stefania Carucci, Gianluca Caridi, Francesca Lugani, Claudia Barone, Giovanni Conti
Autosomal dominant tubulointerstitial kidney disease (ADTKD) belongs to a group of renal hereditary disorders linked by common findings of tubulointerstitial disease and dominant inheritance. The renal clinical phenotype is characterized by chronic kidney disease, hyperuricemia, gout, and, inconstantly, renal cysts. Uromodulin (UMOD) gene mutations are related to the clinical phenotype of ADTKD-UMOD. We describe here a novel heterozygous mutation of UMOD (c.249C>G; p.Cys83Trp) in an affected 9-year-old boy with progressive renal impairment and hyperuricemia...
February 9, 2018: Clinical Nephrology
https://www.readbyqxmd.com/read/29401581/ganetespib-limits-ciliation-and-cystogenesis-in-autosomal-dominant-polycystic-kidney-disease-adpkd
#6
Anna S Nikonova, Alexander Y Deneka, Anna A Kiseleva, Vladislav Korobeynikov, Anna Gaponova, Ilya G Serebriiskii, Meghan C Kopp, Harvey H Hensley, Tamina N Seeger-Nukpezah, Stefan Somlo, David A Proia, Erica A Golemis
Autosomal-dominant polycystic kidney disease (ADPKD) is associated with progressive formation of renal cysts, kidney enlargement, hypertension, and typically end-stage renal disease. In ADPKD, inherited mutations disrupt function of the polycystins (encoded by PKD1 and PKD2), thus causing loss of a cyst-repressive signal emanating from the renal cilium. Genetic studies have suggested ciliary maintenance is essential for ADPKD pathogenesis. Heat shock protein 90 (HSP90) clients include multiple proteins linked to ciliary maintenance...
January 10, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29401040/imaging-follow-up-of-low-risk-incidental-pancreas-and-kidney-findings-effects-of-patient-age-and-comorbidity-on-projected-life-expectancy
#7
Tiana J Raphel, Davis T Weaver, Lincoln L Berland, Brian R Herts, Alec J Megibow, Amy B Knudsen, Pari V Pandharipande
Purpose To determine the effects of patient age and comorbidity level on life expectancy (LE) benefits associated with imaging follow-up of Bosniak IIF renal cysts and pancreatic side-branch (SB) intraductal papillary mucinous neoplasms (IPMNs). Materials and Methods A decision-analytic Markov model to evaluate LE benefits was developed. Hypothetical cohorts with varied age (60-80 years) and comorbidities (none, mild, moderate, or severe) were evaluated. For each finding, LE projections from two strategies were compared: imaging follow-up and no imaging follow-up...
February 5, 2018: Radiology
https://www.readbyqxmd.com/read/29395339/the-inv-compartment-of-renal-cilia-is-an-intraciliary-signal-activating-center-to-phosphorylate-anks6
#8
Yoshiro Nakajima, Hiroshi Kiyonari, Yoshiko Mukumoto, Takahiko Yokoyama
Connections between cilia and renal cystic diseases are well known, yet molecular mechanisms remain undefined. Cysto-proteins localized in the Inv compartment of cilia (INV, NPHP3, NEK8, and ANKS6) constitute a distinct group. Here we created and analyzed mutant mice (G2A mice) with a defective cilia localization signal in the Nphp3 gene. Mutant NPHP3 was absent the binding capacity of UNC119, a carrier protein responsible for the delivery of myristoylated cargo to the cilium, so ciliary localization was reduced or lost in the kidney but not in the embryonic node...
January 30, 2018: Kidney International
https://www.readbyqxmd.com/read/29390525/renal-cyst-masses-bosniak-category-ii-iii-may-be-over-evaluated-by-the-bosniak-criteria-based-on-mr-findings
#9
Jianguo Zhong, Fang Cao, Xiaojun Guan, Junfa Chen, Zhongxiang Ding, Minming Zhang
A classification system of renal cysts developed by Bosniak is based on computed tomography (CT) findings and has been applied to deal with the complex cystic renal masses. Magnetic resonance (MR) has excellent soft-tissue resolution, it has been used to further evaluate some complex renal lesions, especially those suspected of containing soft tissue components and hyperattenuating cystic lesions seen on CT. Compared with CT, MR images may find additional information, which may lead to inconsistent classification...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29389516/wnt-signaling-in-kidney-development-and-disease
#10
Yongping Wang, Chengji J Zhou, Youhua Liu
Wnt signal cascade is an evolutionarily conserved, developmental pathway that regulates embryogenesis, injury repair, and pathogenesis of human diseases. It is well established that Wnt ligands transmit their signal via canonical, β-catenin-dependent and noncanonical, β-catenin-independent mechanisms. Mounting evidence has revealed that Wnt signaling plays a key role in controlling early nephrogenesis and is implicated in the development of various kidney disorders. Dysregulations of Wnt expression cause a variety of developmental abnormalities and human diseases, such as congenital anomalies of the kidney and urinary tract, cystic kidney, and renal carcinoma...
January 2018: Progress in Molecular Biology and Translational Science
https://www.readbyqxmd.com/read/29388169/a-case-of-unilateral-nephrectomy-performed-for-autosomal-dominant-polycystic-kidney-disease-with-marked-unilateral-enlargement
#11
Shiho Makabe, Hiroshi Kataoka, Tsunenori Kondo, Kazunari Tanabe, Ken Tsuchiya, Kosaku Nitta, Toshio Mochizuki
Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the occurrence of multiple cysts that increase the size of both kidneys, progressively reducing kidney function. Usually the cysts occur bilaterally, and there is no difference in the degree of cyst enlargement between the left and right. Here, we report a case of ADPKD in which kidney size increased markedly on the left side and was accompanied by severe abdominal distension and discomfort. Renal dynamic scintigraphy revealed a severe reduction in function of the left kidney compared with the right...
January 31, 2018: CEN Case Reports
https://www.readbyqxmd.com/read/29383479/magnetic-resonance-imaging-as-an-adjunct-diagnostic-tool-in-computed-tomography-defined-bosniak-iif-iii-renal-cysts-a-multicenter-study
#12
Tomas Pitra, Kristyna Pivovarcikova, Radek Tupy, Reza Alaghehbandan, Tana Barakova, Ivan Travnicek, Kristyna Prochazkova, Tobias Klatte, Piotr Chlosta, Ondrej Hes, Milan Hora
INTRODUCTION: CT imaging is the standard examination for renal cystic lesions and defines the Bosniak category, which dictates further management. Given that Bosniak II/IIF/III renal cystic lesions can potentially harbor renal cell carcinoma (RCC), additional diagnostic modalities may be required in management decision making. AIM: To determine the value of additional magnetic resonance imaging in CT-defined Bosniak IIF-III renal cystic lesions. MATERIALS AND METHODS: This a multicenter retrospective study of 46 consecutive patients, diagnosed with cystic renal lesions between 2009 and 2016...
January 30, 2018: World Journal of Urology
https://www.readbyqxmd.com/read/29383241/co-existing-infantile-hepatic-hemangioma-and-mesenchymal-hamartoma-in-a-neonate
#13
Nicolas Berte, Alya Filfilan, Laurence Mainard, Ludovic Mansuy, Jean-Louis Lemelle
Infantile hepatic hemangioma (IHH) and mesenchymal hamartoma (MH) form the first and second most common benign hepatic tumors in children. In this case report, we present a newborn child in whom a growing hepatic mass was discovered at the age of 7 days. She suffered also from anemia, respiratory and renal failure. No signs of heart disease or cutaneous lesions were detected. Alpha-fetoprotein was elevated for her age (3562.2 ng/ml). Imaging studies showed multifocal large cystic lesions associated with heterogeneous small solid lesions with arterial enhancement of the liver...
January 2018: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/29378535/whole-exome-sequencing-reveals-a-stop-gain-mutation-of-pkd2-in-an-autosomal-dominant-polycystic-kidney-disease-family-complicated-with-aortic-dissection
#14
Wenwen Zhang, Qian Han, Zhao Liu, Wei Zhou, Qing Cao, Weimin Zhou
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder characterized by progressive cyst formation and expansion in the kidneys, which culminates in end-stage renal disease. Aortic dissection is a rare vascular complication of ADPKD and related literature is currently limited. CASE PRESENTATION: In this report, we described a patient with asymptomatic Stanford B aortic dissection. Further investigation revealed a positive family history of ADPKD and normal renal function...
January 30, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29375688/the-safety-and-efficacy-of-mpr-ctu-combined-with-precise-intraoperative-ultrasonography-guided-flexible-ureteroscope-in-the-treatment-of-renal-cystic-disease
#15
Rongjiang Wang, Ning Wang, Jianer Tang, Yu Chen, Jianguo Gao
The safety and efficacy of multi-planar reconstruction (MPR) image post-processing technique-computed tomography (CT) urography (CTU) combined with precise intraoperative ultrasonography guided flexible ureteroscope in renal cyst incision and drainage in the treatment of cystic diseases of kidney were evaluated. A total of 68 patients were randomly divided into control and observation group (n=34). All the patients were treated with renal cyst incision and drainage under flexible ureteroscope. The control group was under ultrasound guidance...
January 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29366679/the-combination-of-an-hdac6-inhibitor-and-a-somatostatin-receptor-agonist-synergistically-reduces-hepato-renal-cystogenesis-in-an-animal-model-of-polycystic-liver-disease
#16
Maria Lorenzo Pisarello, Tatyana V Masyuk, Sergio A Gradilone, Anatoliy I Masyuk, Jingyi Francess Ding, Pui-Yuen Lee, Nicholas F LaRusso
Hepatic cystogenesis in polycystic liver disease (PLD) is associated with abnormalities in multiple cellular processes, including elevated cAMP and over-expression of histone deacetylase 6 (HDAC6). Disease progression in PCK rats (an animal model of PLD) is attenuated by inhibition of either cAMP production or HDAC6. Therefore, we hypothesized that concurrent targeting of HDAC6 and cAMP would synergistically reduce cyst growth. Changes in hepato-renal cystogenesis were examined in PCK rats treated with: i) a pan-HDAC inhibitor, panobinostat; ii) three specific HDAC6 inhibitors, ACY-1215, ACY-738, and ACY-241; and iii) a combination of ACY-1215 and the somatostatin receptor analog, pasireotide...
January 20, 2018: American Journal of Pathology
https://www.readbyqxmd.com/read/29358433/randomised-controlled-trial-to-determine-the-efficacy-and-safety-of-prescribed-water-intake-to-prevent-kidney-failure-due-to-autosomal-dominant-polycystic-kidney-disease-prevent-adpkd
#17
Annette T Y Wong, Carly Mannix, Jared J Grantham, Margaret Allman-Farinelli, Sunil V Badve, Neil Boudville, Karen Byth, Jessie Chan, Susan Coulshed, Marie E Edwards, Bradley J Erickson, Mangalee Fernando, Sheryl Foster, Imad Haloob, David C H Harris, Carmel M Hawley, Julie Hill, Kirsten Howard, Martin Howell, Simon H Jiang, David W Johnson, Timothy L Kline, Karthik Kumar, Vincent W Lee, Maureen Lonergan, Jun Mai, Philip McCloud, Anthony Peduto, Anna Rangan, Simon D Roger, Kamal Sud, Vincent Torres, Eswari Vliayuri, Gopala K Rangan
INTRODUCTION: Maintaining fluid intake sufficient to reduce arginine vasopressin (AVP) secretion has been hypothesised to slow kidney cyst growth in autosomal dominant polycystic kidney disease (ADPKD). However, evidence to support this as a clinical practice recommendation is of poor quality. The aim of the present study is to determine the long-term efficacy and safety of prescribed water intake to prevent the progression of height-adjusted total kidney volume (ht-TKV) in patients with chronic kidney disease (stages 1-3) due to ADPKD...
January 21, 2018: BMJ Open
https://www.readbyqxmd.com/read/29357828/birt-hogg-dub%C3%A3-syndrome-in-two-chinese-families-with-mutations-in-the-flcn-gene
#18
Xiaocan Hou, Yuan Zhou, Yun Peng, Rong Qiu, Kun Xia, Beisha Tang, Wei Zhuang, Hong Jiang
BACKGROUND: Birt-Hogg-Dubé syndrome is an autosomal dominant hereditary condition caused by mutations in the folliculin-encoding gene FLCN (NM_144997). It is associated with skin lesions such as fibrofolliculoma, acrochordon and trichodiscoma; pulmonary lesions including spontaneous pneumothorax and pulmonary cysts and renal cancer. METHODS: Genomic DNA was extracted from peripheral venous blood samples of the propositi and their family members. Genetic analysis was performed by whole exome sequencing and Sanger sequencing aiming at corresponding exons in FLCN gene to explore the genetic mutations of these two families...
January 22, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29344814/nutritional-therapy-in-autosomal-dominant-polycystic-kidney-disease
#19
REVIEW
Biagio R Di Iorio, Adamasco Cupisti, Claudia D'Alessandro, Antonio Bellasi, Vincenzo Barbera, Luca Di Lullo
CKD-related nutritional therapy (NT) is a crucial cornerstone of CKD patients' treatment, but the role of NT has not been clearly investigated in autosomal dominant polycystic kidney disease (ADPKD). Several clinical studies have focused on new pharmacological approaches to delay cystic disease progression, but there are no data on dietary interventions in ADPKD patients. The aim of this paper is to analyze the evidence from the literature on the impact of five nutritional aspects (water, sodium, phosphorus, protein intake, and net acid load) in CKD-related ADPKD extrapolating-where information is unavailable-from what occurs in CKD non-ADPKD patients Sodium intake restriction could be useful in decreasing the growth rate of cysts...
January 17, 2018: Journal of Nephrology
https://www.readbyqxmd.com/read/29343557/dicer1-and-associated-conditions-%C3%A2-identification-of-at-risk-individuals-and-recommended-surveillance-strategies
#20
Kris Ann P Schultz, Gretchen M Williams, Junne Kamihara, Douglas R Stewart, Anne K Harris, Andrew J Bauer, Joyce Turner, Rachana Shah, Katherine Schneider, Kami Wolfe Schneider, Ann Garrity Carr, Laura A Harney, Shari Baldinger, A Lindsay Frazier, Daniel Orbach, Dominik T Schneider, David Malkin, Louis P Dehner, Yoav H Messinger, Ashley Hill
Pathogenic germline DICER1 variants cause a hereditary cancer predisposition syndrome with a variety of manifestations. In addition to conferring increased cancer risks for pleuropulmonary blastoma (PPB) and ovarian sex cord-stromal tumors, particularly Sertoli-Leydig cell tumor, individuals with pathogenic germline DICER1 variants may also develop lung cysts, cystic nephroma, renal sarcoma and Wilms tumor, nodular hyperplasia of the thyroid, nasal chondromesenchymal hamartoma, ciliary body medulloepithelioma, genitourinary embryonal rhabdomyosarcoma and brain tumors including pineoblastoma and pituitary blastoma...
January 17, 2018: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
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