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https://www.readbyqxmd.com/read/28630500/hyperuricemia-and-overexcretion-of-uric-acid-increase-the-risk-of-simple-renal-cysts-in-type-2-diabetes
#1
Ying Han, Mingliang Zhang, Junxi Lu, Lei Zhang, Junfeng Han, Fangya Zhao, Haibing Chen, Yuqian Bao, Weiping Jia
Previous studies have discussed the relationship between simple renal cysts (SRC) and serum uric acid level in healthy individuals. We performed a cross-sectional study to evaluate the association between serum uric acid level and fractional excretion of uric acid (FEUA) and simple renal cysts in males and postmenopausal females with type 2 diabetes. The overall prevalence of SRC was 18.1% in our population. SRC prevalence was significantly higher in hyperuricemic than normouricemic subjects (27.3% vs. 16.8%, P < 0...
June 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28630289/green-mamba-peptide-targets-type-2-vasopressin-receptor-against-polycystic-kidney-disease
#2
Justyna Ciolek, Helen Reinfrank, Loïc Quinton, Say Viengchareun, Enrico A Stura, Laura Vera, Sabrina Sigismeau, Bernard Mouillac, Hélène Orcel, Steve Peigneur, Jan Tytgat, Laura Droctové, Fabrice Beau, Jerome Nevoux, Marc Lombès, Gilles Mourier, Edwin De Pauw, Denis Servent, Christiane Mendre, Ralph Witzgall, Nicolas Gilles
Polycystic kidney diseases (PKDs) are genetic disorders that can cause renal failure and death in children and adults. Lowering cAMP in cystic tissues through the inhibition of the type-2 vasopressin receptor (V2R) constitutes a validated strategy to reduce disease progression. We identified a peptide from green mamba venom that exhibits nanomolar affinity for the V2R without any activity on 155 other G-protein-coupled receptors or on 15 ionic channels. Mambaquaretin-1 is a full antagonist of the V2R activation pathways studied: cAMP production, beta-arrestin interaction, and MAP kinase activity...
June 19, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28626377/kidney-injury-due-to-ureteral-obstruction-caused-by-compression-from-infected-simple-hepatic-cyst
#3
Naoya Sawada, Tetsu Endo, Kenichiro Mikami, Go Igarashi, Juichi Sakamoto, Hiroshi Tono, Shinsaku Fukuda
Simple hepatic cysts are common and most often asymptomatic. In symptomatic cases, hemorrhage, rupture, and infection are major complications. However, urinary tract obstruction caused by a simple hepatic cyst is rare. We treated an 82-year-old Japanese man with an infected giant hepatic cyst causing right hydronephrosis who had a past history of left nephrectomy for renal cell carcinoma. The patient underwent ultrasound-guided percutaneous drainage and sclerotherapy with minocycline hydrochloride for the infected hepatic cyst...
May 2017: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/28625023/-studyon-renal-cell-carcinoma-detected-by-abdominal-ultrasonography-during-routine-health-check-up
#4
Masahito Ishikawa, Ayae Kawakami, Kohei Sakuraba, Sae Tanaka, Yoichi Yamamoto, Tateru Ishida, Mitsuru Kawarasaki, Toshihiro Ootaki, Shigeru Ozasa
We performed a study on renal cell carcinoma (RCC) detected by abdominal ultrasonography during routine health check-up at Sapporo Teishin Hospital. The study included a total of 13,127 ultrasonographic examinations performed on 4,339 patients who visited our hospital for routine health check-ups during a 21- year period from April 1995 to March 2016. RCC was suspected from ultrasonographic findings and later histopathologically diagnosed in 11 patients in this group (detection rate 0.25%). Patients were male, aged 37 to 64 (median, 52...
May 2017: Hinyokika Kiyo. Acta Urologica Japonica
https://www.readbyqxmd.com/read/28623545/analysis-of-genotypes-and-phenotypes-in-chinese-children-with-tuberous-sclerosis-complex
#5
Dayong Bai, Junyang Zhao, Li Li, Jun Gao, Xu Wang
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome with serious clinical presentations, an autosomal dominant genetic disorder involving multiple organs and systems. We retrospectively investigated the clinical manifestations and genotypes of 20 Chinese children with TSC to enable informed diagnostic and surveillance recommendations in China. A retrospective analysis of clinical manifestations in 20 children (7.00±5.30 years old) with TSC was conducted. A genetic testing of the genes TSC1 and TSC2 was performed in 14 children...
June 14, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28621010/diversity-of-renal-phenotypes-in-patients-with-wdr19-mutations-two-case-reports
#6
Takahisa Yoshikawa, Koichi Kamei, Hiroko Nagata, Ken Saida, Mai Sato, Masao Ogura, Shuichi Ito, Osamu Miyazaki, Maki Urushihara, Shuji Kondo, Noriko Sugawara, Kiyonobu Ishizuka, Yuko Hamasaki, Seiichiro Shishido, Naoya Morisada, Kazumoto Iijima, Michio Nagata, Takako Yoshioka, Kentaro Ogata, Kenji Ishikura
WDR19 has been reported as a causative gene of nephronophthisis-related ciliopathies. Patients with WDR19 mutations can show various extrarenal manifestations such as skeletal disorders, Caroli disease, and retinal dystrophy, and typically display nephronophthisis as a renal phenotype. However, there is limited information on the renal phenotypes of patients with WDR19 mutations. We report two Japanese infants with Sensenbrenner syndrome caused by WDR19 mutations who demonstrated different features in renal ultrasound and histopathological results, despite several common extrarenal manifestations...
July 2017: Nephrology
https://www.readbyqxmd.com/read/28618709/re-visual-assessment-of-the-intensity-and-pattern-of-t1-hyperintensity-on-mri-to-differentiate-hemorrhagic-renal-cysts-from-renal-cell-carcinoma
#7
https://www.readbyqxmd.com/read/28616208/patient-survey-of-current-water-intake-practices-in-autosomal-dominant-polycystic-kidney-disease-the-sips-survey
#8
Ragada El-Damanawi, Tess Harris, Richard N Sandford, Fiona E Karet Frankl, Thomas F Hiemstra
Background: Autosomal dominant polycystic kidney disease (ADPKD) affects 12.5 million worldwide. Vasopressin drives cysts growth and in animal models can be suppressed through high water intake. A randomized controlled trial of 'high' versus 'standard' water intake in ADPKD is essential to determine if this intervention is beneficial. We conducted an ADPKD patient survey to gain an understanding of current fluid intake practices and the design challenges of a randomized water intake trial. Methods: In collaboration with the PKD Charity, we developed and distributed an online survey to ADPKD patients over age 16 years and not on renal replacement therapy...
June 2017: Clinical Kidney Journal
https://www.readbyqxmd.com/read/28611533/functional-budd-chiari-syndrome-associated-with-severe-polycystic-liver-disease
#9
Precil Diego Miranda de Menezes Neves, Bruno Eduardo Pedroso Balbo, Elieser Hitoshi Watanabe, Vinicius Rocha-Santos, Wellington Andraus, Luiz Augusto Carneiro D'Albuquerque, Luiz Fernando Onuchic
A 50-year-old woman with end-stage renal disease secondary to autosomal dominant polycystic kidney disease was referred to a quaternary care center due to significantly increased abdominal girth. Her physical examination revealed tense ascites and abdominal collateral veins. A 10-L paracentesis improved abdominal discomfort and disclosed a transudate, suggestive of portal hypertension. A computed tomographic scan revealed massive hepatomegaly caused by multiple cysts of variable sizes, distributed throughout all hepatic segments...
2017: Clinical Medicine Insights. Gastroenterology
https://www.readbyqxmd.com/read/28609114/do-incidental-hyperechoic-renal-lesions-measuring-up-to-1-cm-warrant-further-imaging-outcomes-of-161-lesions
#10
Ankur M Doshi, Abimbola Ayoola, Andrew B Rosenkrantz
OBJECTIVE: The purpose of this study was to determine the outcomes of hyperechoic renal lesions measuring 1 cm or less at ultrasound examination. MATERIALS AND METHODS: This retrospective study included 161 hyperechoic renal lesions measuring 1 cm or less at ultrasound that were evaluated with follow-up ultrasound, CT, or MRI. Follow-up imaging examinations were reviewed to assess for definitive lesion characterization or size stability. RESULTS: Follow-up included 11 unenhanced CT, 39 contrast-enhanced CT, 52 unenhanced and contrast-enhanced CT, two unenhanced MRI, 50 unenhanced and contrast-enhanced MRI, and 87 ultrasound examinations...
June 13, 2017: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/28606406/-quality-of-life-in-patients-with-autosomal-dominant-polycystic-kidney-disease
#11
Laurent Lecardeur, Dominique Joly
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disease that usually occurs in adulthood. The majority of affected patients will develop renal complications related to cysts during their life, but may sometimes also develop severe extrarenal complications. The aim of this study is to review quantitative and qualitative results of researches that have investigated quality of life of patients suffering ADPKD. The results obtained with health-relative quality of life scales are contradictory and lack of sensibility according to the special features of ADPKD, for psychological impact for instance...
June 9, 2017: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/28606296/-autosomal-dominant-polycystic-kidney-disease
#12
Signe Vinsand Naver, Bjarne Ørskov, Anja Møller Jensen, Martin Egfjord
Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic disorder which causes end stage renal disease. In Denmark, estimated 5,000 patients are living with the disease. Most of the patients are in regular contact with physicians due to the progression of kidney failure causing hypertension as well as cyst infections, back pain, abdominal distension and other symptoms caused by the enlarged kidneys. In this article we describe the clinical presentation, the genetics, the pathophysiology and the current and future treatment modalities of the disease...
June 12, 2017: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/28604386/lysine-methyltransferase-smyd2-promotes-cyst-growth-in-autosomal-dominant-polycystic-kidney-disease
#13
Linda Xiaoyan Li, Lucy X Fan, Julie Xia Zhou, Jared J Grantham, James P Calvet, Julien Sage, Xiaogang Li
Autosomal dominant polycystic kidney disease (ADPKD) is driven by mutations in PKD1 and PKD2 genes. Recent work suggests that epigenetic modulation of gene expression and protein function may play a role in ADPKD pathogenesis. In this study, we identified SMYD2, a SET and MYND domain protein with lysine methyltransferase activity, as a regulator of renal cyst growth. SMYD2 was upregulated in renal epithelial cells and tissues from Pkd1-knockout mice as well as in ADPKD patients. SMYD2 deficiency delayed renal cyst growth in postnatal kidneys from Pkd1 mutant mice...
June 12, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28600153/improvement-in-renal-cystic-disease-of-tuberous-sclerosis-complex-after-treatment-with-mammalian-target-of-rapamycin-inhibitor
#14
Brian J Siroky, Alexander J Towbin, Andrew T Trout, Hannah Schäfer, Anna R Thamann, Karen D Agricola, Cynthia Tudor, Jamie Capal, Bradley P Dixon, Darcy A Krueger, David N Franz
Renal cysts occur in approximately 50% of patients with tuberous sclerosis complex, but their clinical significance and response to treatment are unknown. Abdominal imaging of 15 patients with tuberous sclerosis complex-associated renal cystic disease who had received mammalian target of rapamycin inhibitor therapy for other tuberous sclerosis complex-related indications was evaluated. Reductions in cyst number, sum diameter, and volume were observed.
June 6, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28592361/ct-imaging-of-solid-renal-masses-pitfalls-and-solutions
#15
REVIEW
S Krishna, C A Murray, M D McInnes, R Chatelain, M Siddaiah, O Al-Dandan, S Narayanasamy, N Schieda
Computed tomography (CT) remains the first-line imaging test for the characterisation of renal masses; however, CT has inherent limitations, which if unrecognised, may result in errors. The purpose of this manuscript is to present 10 pitfalls in the CT evaluation of solid renal masses. Thin section non-contrast enhanced CT (NECT) is required to confirm the presence of macroscopic fat and diagnosis of angiomyolipoma (AML). Renal cell carcinoma (RCC) can mimic renal cysts at NECT when measuring <20 HU, but are usually heterogeneous with irregular margins...
June 4, 2017: Clinical Radiology
https://www.readbyqxmd.com/read/28589383/von-hippel-lindau-disease-a-single-gene-several-hereditary-tumors
#16
REVIEW
J Crespigio, L C L Berbel, M A Dias, R F Berbel, S S Pereira, D Pignatelli, T L Mazzuco
The Von Hippel-Lindau (VHL) disease is an autosomal dominant disorder characterized by the predisposition for multiple tumors caused by germline mutations in the tumor suppressor gene VHL. This disease is associated with a high morbidity and mortality and presents a variable expression, with different phenotypes from family to family, affecting different organs during the lifetime. The main manifestations of VHL are hemangioblastomas of the central nervous system and retina, renal carcinomas and cysts, bilateral pheochromocytomas, cystic and solid tumors of the pancreas, cystadenomas of the epididymis, and endolymphatic sac tumors...
June 6, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28579603/rapamycin-treatment-for-benign-multicystic-peritoneal-mesothelioma-a-rare-disease-with-a-difficult-management
#17
Giovanni Stallone, Barbara Infante, Luigi Cormio, Luca Macarini, Giuseppe Grandaliano
BACKGROUND Benign multicystic peritoneal mesothelioma (BMPM) is a rare intra-abdominal tumor. Although considered by many to be benign, this tumor has a high local recurrence rate. Because of its rarity, preoperative diagnosis is difficult and its origin and pathogenesis are uncertain. There are no evidence-based treatment strategies for BMPM. It is agreed that the best treatment strategy for BMPM is the combination of surgical cytoreduction and hyperthermic intraperitoneal chemotherapy (HIPEC). An increasing body of evidence supports a pivotal role of the cytoplasmic serine/threonine kinase mTOR in the development and progression of several neoplastic diseases and specific mTOR inhibitors, including rapamycin, have been suggested as potential therapeutic options for different cancers...
June 5, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28577853/loss-of-transcriptional-activation-of-the-potassium-channel-kir5-1-by-hnf1%C3%AE-drives-autosomal-dominant-tubulointerstitial-kidney-disease
#18
Andreas Kompatscher, Jeroen H F de Baaij, Karam Aboudehen, Anke P W M Hoefnagels, Peter Igarashi, René J M Bindels, Gertjan J C Veenstra, Joost G J Hoenderop
Hepatocyte nuclear factor 1 homeobox B (HNF1β) is an essential transcription factor for the development and functioning of the kidney. Mutations in HNF1β cause autosomal dominant tubulointerstitial kidney disease characterized by renal cysts and maturity-onset diabetes of the young (MODY). Moreover, these patients suffer from a severe electrolyte phenotype consisting of hypomagnesemia and hypokalemia. Until now, genes that are regulated by HNF1β are only partially known and do not fully explain the phenotype of the patients...
May 31, 2017: Kidney International
https://www.readbyqxmd.com/read/28560694/role-of-apoptosis-in-the-development-of-autosomal-dominant-polycystic-kidney-disease-adpkd
#19
REVIEW
Lukas Peintner, Christoph Borner
Autosomal dominant polycystic kidney disease (ADPKD) is a widespread genetic disorder in the Western world and is characterized by cystogenesis that often leads to end-stage renal disease (ESRD). Mutations in the pkd1 gene, encoding for polycystin-1 (PC1) and its interaction partner pkd2, encoding for polycystin-2 (PC2), are the main drivers of this disease. PC1 and PC2 form a multiprotein membrane complex at cilia sites of the plasma membrane and at intracellular membranes. This complex mediates calcium influx and stimulates various signaling pathways regulating cell survival, proliferation and differentiation...
July 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28558743/clinical-and-genetic-characteristics-of-chinese-patients-with-birt-hogg-dub%C3%A3-syndrome
#20
Yaping Liu, Zhiyan Xu, Ruie Feng, Yongzhong Zhan, Jun Wang, Guozhen Li, Xue Li, Weihong Zhang, Xiaowen Hu, Xinlun Tian, Kai-Feng Xu, Xue Zhang
BACKGROUND: Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder, the main manifestations of which are fibrofolliculomas, renal tumors, pulmonary cysts and recurrent pneumothorax. The known causative gene for BHD syndrome is the folliculin (FLCN) gene on chromosome 17p11.2. Studies of the FLCN mutation for BHD syndrome are less prevalent in Chinese populations than in Caucasian populations. Our study aims to investigate the genotype spectrum in a group of Chinese patients with BHD...
May 30, 2017: Orphanet Journal of Rare Diseases
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