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https://www.readbyqxmd.com/read/28432469/renal-findings-in-patients-with-mulibrey-nanism
#1
Johanna Sivunen, Susann Karlberg, Jouko Lohi, Niklas Karlberg, Marita Lipsanen-Nyman, Hannu Jalanko
BACKGROUND: Mulibrey nanism (MUL) is a rare inherited disease caused by genetic defects affecting peroxisomal TRIM37 protein. MUL affects multiple organs, leading to growth retardation and early onset type 2 diabetes. We aimed to characterize the structure and function of kidneys and the urinary tract in a large cohort of Finnish MUL patients. METHODS: Ultrasound, magnetic resonance imaging (MRI), and autopsy findings of the kidneys and urinary tract from 101 MUL patients were retrospectively analyzed...
April 22, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28420700/diabetes-associated-clinical-spectrum-long-term-prognosis-and-genotype-phenotype-correlations-in-201-adult-patients-with-hepatocyte-nuclear-factor-1-b-hnf1b-molecular-defects
#2
Danièle Dubois-Laforgue, Erika Cornu, Cécile Saint-Martin, Joël Coste, Christine Bellanné-Chantelot, José Timsit
OBJECTIVE: Molecular defects of hepatocyte nuclear factor 1B (HNF1B) are associated with a multiorgan disease, including diabetes (maturity-onset diabetes of the young 5) and kidney abnormalities. The HNF1B-syndrome is related to HNF1B mutations or to a 17q12 deletion spanning 15 genes, including HNF1B. Here, we described HNF1B-related diabetes and associated phenotypes and assessed genotype/phenotype correlations at diagnosis and in the long-term. RESEARCH DESIGN AND METHODS: This multicenter retrospective cohort study included 201 patients, aged 18 or older at follow-up, with HNF1B mutations (n = 101) or deletion (n = 100)...
April 18, 2017: Diabetes Care
https://www.readbyqxmd.com/read/28416225/b-type-natriuretic-peptide-overexpression-ameliorates-hepatorenal-fibrocystic-disease-in%C3%A2-a%C3%A2-rat%C3%A2-model-of-polycystic-kidney-disease
#3
Sara J Holditch, Claire A Schreiber, Peter C Harris, Nicholas F LaRusso, Marina Ramirez-Alvarado, Alessandro Cataliotti, Vicente E Torres, Yasuhiro Ikeda
Polycystic kidney disease (PKD) involves progressive hepatorenal cyst expansion and fibrosis, frequently leading to end-stage renal disease. Increased vasopressin and cAMP signaling, dysregulated calcium homeostasis, and hypertension play major roles in PKD progression. The guanylyl cyclase A agonist, B-type natriuretic peptide (BNP), stimulates cGMP and shows anti-fibrotic, anti-hypertensive, and vasopressin-suppressive effects, potentially counteracting PKD pathogenesis. Here, we assessed the impacts of guanylyl cyclase A activation on PKD progression in a rat model of PKD...
April 14, 2017: Kidney International
https://www.readbyqxmd.com/read/28416105/do-clear-cell-papillary-renal-cell-carcinomas-have-malignant-potential-diolombi-ml-cheng-l-argani-p-epstein-ji-am-j-surg-pathol-december-2015-39-12-1621-1634
#4
Oleksandr N Kryvenko
There have been no recurrences or metastases of clear cell papillary renal cell carcinoma (CCPRCC) in 268 reported cases with follow-up in the English-language literature. We identified all our cases of CCPRCC (1990-2013), reviewing all cases that preceded the formal designation of the entity. Immunohistochemical stains were performed on 32 cases during their initial workup. In addition, stains for carbonic anhydrase IX and cytokeratin 7 were performed on 2 cases, one with atypical follow-up and the other with a more compact morphology, although not performed initially...
April 13, 2017: Urologic Oncology
https://www.readbyqxmd.com/read/28416104/multilocular-cystic-renal-cell-carcinoma-pathological-t-staging-makes-no-difference-to-favorable-outcomes-and-should-be-reclassified-bhatt-jr-jewett-ma-richard-po-kawaguchi-s-timilshina-n-evans-a-alibhai-s-finelli-a-j-urol-november-2016-196-5-1350-1355
#5
Oleksandr N Kryvenko
OBJECTIVE: We evaluated survival outcomes of cystic/multilocular cystic renal cell carcinomas in a long-term population-based study based on size and pathological tumor stage. MATERIALS AND METHODS: We, retrospectively, reviewed a provincial cancer registry of all histologically proven cases of multilocular cystic renal cancers treated surgically between 1995 and 2008. All cases of cystic necrosis were excluded from study. Primary end points were overall- and cancer-specific survival estimated using Kaplan-Meier curves...
April 13, 2017: Urologic Oncology
https://www.readbyqxmd.com/read/28414856/radiographic-and-ultrasonographic-findings-of-the-spleen-and-abdominal-lymph-nodes-in-healthy-domestic-ferrets
#6
J N Suran, L V Latney, N R Wyre
OBJECTIVE: To describe the radiographic and ultrasonographic characteristics of the spleen and abdominal lymph nodes in clinically healthy ferrets. MATERIALS AND METHODS: Fifty-five clinically healthy ferrets were prospectively recruited for this cross-sectional study. Three-view whole body radiographs and abdominal ultrasonography were performed on awake (23 out of 55) or sedated (32 out of 55) ferrets. On radiographs splenic and abdominal lymph node visibility was assessed...
April 17, 2017: Journal of Small Animal Practice
https://www.readbyqxmd.com/read/28413666/renal-cell-carcinoma-presenting-as-a-simple-renal-cyst-a-case-report
#7
Yanlan Yu, Liang Ma, Zhenghui Wang, Zhigen Zhang
Cases of renal cell carcinoma (RCC) presenting as a simple cyst are extremely rare. We herein report the case of a patient with RCC diagnosed as a simple renal cyst preoperatively. A 39-year-old female patient presented with abdominal pain for 3 months. Ultrasonography and contrast-enhanced computed tomography revealed a simple cyst in the left kidney. The patient underwent laparoscopic decortication of the renal cyst. Biochemical analysis of the cystic fluid revealed unusually low levels of potassium, sodium, calcium and glucose, and the histological examination of the floor of the cyst indicated malignancy...
April 2017: Molecular and Clinical Oncology
https://www.readbyqxmd.com/read/28413382/angiomyolipoma-with-epithelial-cysts-masquerading-as-a-cystic-renal-cell-carcinoma
#8
Andrew Wood, Fiona Young, Marie O'Donnell
Angiomyolipoma with epithelial cysts (AMLEC) is a very uncommon renal tumor. AMLEC has a characteristic histological appearance and immunohistochemical staining pattern, knowledge of which should preclude misdiagnosis by pathologists. We present a rare case of an AMLEC which was suspected to be a cystic renal cell carcinoma radiologically. We describe the characteristic immunological staining pattern and ultrastructural features of this lesion and discuss the potential differential diagnoses.
January 2017: Current Urology
https://www.readbyqxmd.com/read/28409351/inflammation-and-fibrosis-in-polycystic-kidney-disease
#9
Cheng Jack Song, Kurt A Zimmerman, Scott J Henke, Bradley K Yoder
Polycystic kidney disease (PKD) is a commonly inherited disorder characterized by cyst formation and fibrosis (Wilson, N Engl J Med 350:151-164, 2004) and is caused by mutations in cilia or cilia-related proteins, such as polycystin 1 or 2 (Oh and Katsanis, Development 139:443-448, 2012; Kotsis et al., Nephrol Dial Transplant 28:518-526, 2013). A major pathological feature of PKD is the development of interstitial inflammation and fibrosis with an associated accumulation of inflammatory cells (Grantham, N Engl J Med 359:1477-1485, 2008; Zeier et al...
2017: Results and Problems in Cell Differentiation
https://www.readbyqxmd.com/read/28409350/primary-cilia-in-cystic-kidney-disease
#10
Prachee Avasthi, Robin L Maser, Pamela V Tran
Primary cilia are small, antenna-like structures that detect mechanical and chemical cues and transduce extracellular signals. While mammalian primary cilia were first reported in the late 1800s, scientific interest in these sensory organelles has burgeoned since the beginning of the twenty-first century with recognition that primary cilia are essential to human health. Among the most common clinical manifestations of ciliary dysfunction are renal cysts. The molecular mechanisms underlying renal cystogenesis are complex, involving multiple aberrant cellular processes and signaling pathways, while initiating molecular events remain undefined...
2017: Results and Problems in Cell Differentiation
https://www.readbyqxmd.com/read/28408339/a-retroperitoneal-serous-cystadenoma-of-m%C3%A3-llerian-origin-masquerading-as-a-massive-renal-cyst
#11
Vikram K Sabarwal, Aaditya Chandrasekar, Joshua Engel, Antoun Toubaji, Jason D Engel
A 78 year old female presented to the Urology clinic with a large, symptomatic left-sided abdominal cyst for many years believed to be renal in etiology and had been percutaneously drained three times prior with persistent regrowth. The patient underwent laparoscopic resection of this mass which proved to be a completely distinct retroperitoneal cystic structure and not renal in nature. Pathological analysis ultimately revealed a rare occurrence: a benign retroperitoneal Müllerian serous cystadenoma. To our knowledge, this is the first report of such an entity 'disguised' as a renal cyst...
April 10, 2017: Urology
https://www.readbyqxmd.com/read/28407634/minimally-invasive-approach-for-treatment-of-seminal-vesicle-cyst-associated-with-ipsilateral-renal-agenesis
#12
Eyal Kord, Amnon Zisman, Abd Elhalim Darawsha, Nasib Dally, Paul H Noh, Amos Neheman
OBJECTIVES: We reviewed the clinical presentation and approach for the treatment of symptomatic seminal vesicle cyst associated with ipsilateral renal agenesis while presenting our experience with a series of 5 patients treated with minimally invasive surgery for Zinner syndrome. MATERIALS AND METHODS: Between the years 2008 and 2016, we operated on 5 patients who presented with symptomatic seminal vesicle cyst and ipsilateral renal agenesis. Patients' charts and medical records were reviewed and compared with past published minimally invasive series...
April 14, 2017: Urologia Internationalis
https://www.readbyqxmd.com/read/28392475/a-familial-case-of-severe-infantile-nephronophthisis-explained-by-oligogenic-inheritance
#13
Valentin Penchev, Anelia Boueva, Kunka Kamenarova, Dimitar Roussinov, Reni Tzveova, Mariya Ivanova, Violeta Dimitrova, Ivo Kremensky, Vanio Mitev, Radka Kaneva, Olga Beltcheva
Renal cysts are common malformation during the prenatal and postnatal period and frequent cause of chronic kidney or ESRD. More than 70 genes have been shown to play role in their pathology. Part of them are responsible for the structure and function of the cilia, which assigns a large proportion of the renal cystic diseases in the ciliopathies. Another group of genes responsible for cystic kidneys encodes transcription factors with crucial role during organogenesis. We describe here a systematic approach for identifying the genetic cause(s) of an unusually severe form of renal cystic disease in a family with multiple affected siblings...
April 6, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28390001/defective-glycolysis-and-the-use-of-2-deoxy-d-glucose-in-polycystic-kidney-disease-from-animal-models-to-humans
#14
REVIEW
Riccardo Magistroni, Alessandra Boletta
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited renal disease characterized by bilateral renal cyst formation. ADPKD is one of the most common rare disorders, accounting for ~10% of all patients with end-stage renal disease (ESRD). ADPKD is a chronic disorder in which the gradual expansion of cysts that form in a minority of nephrons eventually causes loss of renal function due to the compression and degeneration of the surrounding normal parenchyma. Numerous deranged pathways have been identified in the cyst-lining epithelia, prompting the design of potential therapies...
April 7, 2017: Journal of Nephrology
https://www.readbyqxmd.com/read/28389785/renal-cell-carcinoma-attenuation-values-on-unenhanced-ct-importance-of-multiple-small-region-of-interest-measurements
#15
John P McGahan, Kunal Sidhar, Ghaneh Fananapazir, Heather Early, Michael T Corwin, Stuart G Silverman, Anthony Seibert
OBJECTIVE: Since it has been suggested that benign renal cysts can be diagnosed at unenhanced CT on the basis of homogeneity and attenuations of 20 HU or less, we determined the prevalence of renal cell carcinomas (RCCs) with these characteristics using two different methods of measuring attenuation. MATERIALS AND METHODS: After IRB approval, two radiologists obtained unenhanced attenuation values of 104 RCCs (mean size 5.6 cm) using a single, large region of interest (ROI), two-thirds the size of the mass...
April 7, 2017: Abdominal Radiology
https://www.readbyqxmd.com/read/28371803/parapelvic-cysts-a-distinguishing-feature-of-renal-fabry-disease
#16
Antonio Pisani, Luigi Petruzzelli Annicchiarico, Angela Pellegrino, Dario Bruzzese, Sandro Feriozzi, Massimo Imbriaco, Enrico Tedeschi, Sirio Cocozza, Dario De Rosa, Renzo Mignani, Massimiliano Veroux, Yuri Battaglia, Daniela Concolino, Simona Sestito, Federico Pieruzzi, Leonardo Caroti, Raffaele Manna, Carmela Zizzo, Michele Santangelo, Massimo Sabbatini, Eleonora Riccio
Background.: Fabry's disease (FD) is a rare, multi-organ lysosomal disease, caused by the deficiency of the enzyme α-galactosidase A, and is difficult to diagnose. Although parapelvic cysts (PC) were previously associated with FD, their prevalence and significance are unclear. Methods.: The present study aimed to: (i) evaluate, by renal ultrasound, the real prevalence of PC and of their determinants in a multicentre, nationwide cohort of FD patients ( n  = 173, Study 1) and (ii) ascertain whether a greater accuracy of PC detection improved their identification, in FD patients from a single centre ( n  = 67, Study 2)...
March 28, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28366658/disappearance-of-renal-cysts-included-in-ice-ball-during-cryoablation-of-renal-cell-carcinoma-a-potential-therapy-for-symptomatic-renal-cysts
#17
Mitsuko Yodoya, Takao Hiraki, Toshihiro Iguchi, Hiroyasu Fujiwara, Yusuke Matsui, Yoshihisa Masaoka, Jun Sakurai, Toshiharu Mitsuhashi, Hideo Gobara, Susumu Kanazawa
PURPOSE: To retrospectively evaluate the effect of cryoablation of renal-cell carcinoma on nearby renal cysts with the goal to investigate the potential for an alternative therapy to treat symptomatic renal cysts. MATERIALS AND METHODS: The study population comprised 46 cysts (mean size, 12 mm; range, 5-43 mm) that were within or near the ice ball during cryoablation in 22 patients. Size change of each cyst was evaluated via enhanced CT or MR imaging before and 1, 3, 6, and 12 months after cryoablation...
March 30, 2017: Journal of Vascular and Interventional Radiology: JVIR
https://www.readbyqxmd.com/read/28356211/pkd2-related-autosomal-dominant-polycystic-kidney-disease-prevalence-clinical-presentation-mutation-spectrum-and%C3%A2-prognosis
#18
Emilie Cornec-Le Gall, Marie-Pierre Audrézet, Eric Renaudineau, Maryvonne Hourmant, Christophe Charasse, Eric Michez, Thierry Frouget, Cécile Vigneau, Jacques Dantal, Pascale Siohan, Hélène Longuet, Philippe Gatault, Laure Ecotière, Frank Bridoux, Lise Mandart, Catherine Hanrotel-Saliou, Corina Stanescu, Pascale Depraetre, Sophie Gie, Michiel Massad, Aude Kersalé, Guillaume Séret, Jean-François Augusto, Philippe Saliou, Sandrine Maestri, Jian-Min Chen, Peter C Harris, Claude Férec, Yannick Le Meur
BACKGROUND: PKD2-related autosomal dominant polycystic kidney disease (ADPKD) is widely acknowledged to be of milder severity than PKD1-related disease, but population-based studies depicting the exact burden of the disease are lacking. We aimed to revisit PKD2 prevalence, clinical presentation, mutation spectrum, and prognosis through the Genkyst cohort. STUDY DESIGN: Case series, January 2010 to March 2016. SETTINGS & PARTICIPANTS: Genkyst study participants are individuals older than 18 years from 22 nephrology centers from western France with a diagnosis of ADPKD based on Pei criteria or at least 10 bilateral kidney cysts in the absence of a familial history...
March 26, 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/28355727/-a-case-of-renal-cysts-and-diabetes-syndrome-presenting-with-gout-as-initial-symptom
#19
Q Wang, W F Tan, Q Wang
No abstract text is available yet for this article.
April 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/28341273/branched-chain-amino-acids-enhance-cyst-development-in-autosomal-dominant-polycystic-kidney-disease
#20
Junya Yamamoto, Saori Nishio, Fumihiko Hattanda, Daigo Nakazawa, Toru Kimura, Michio Sata, Minoru Makita, Yasunobu Ishikawa, Tatsuya Atsumi
Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the progressive development of kidney and liver cysts. The mammalian target of rapamycin (mTOR) cascade is one of the important pathways regulating cyst growth in ADPKD. Branched-chain amino acids (BCAAs), including leucine, play a crucial role to activate mTOR pathway. Therefore, we administered BCAA dissolved in the drinking water to Pkd1(flox/flox):Mx1-Cre (cystic) mice from four to 22 weeks of age after polyinosinic-polycytidylic acid-induced conditional Pkd1 knockout at two weeks of age...
March 21, 2017: Kidney International
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