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https://www.readbyqxmd.com/read/28820764/severe-case-of-renal-coloboma-syndrome-in-long-term-follow-up
#1
Lise Sels, Werner Dirven, Koenraad Devriendt, Anita Leys
PURPOSE: To characterize the ocular features of a severe case of renal coloboma syndrome in a long-term follow-up. METHODS: Observational case report over a period of 45 years. Examination under anesthesia at the age of 3 months, repeated ophthalmologic examination (age 7, 14, 25, 45 years), fluorescein and indocyanine green angiography, electroretinography, ocular ultrasound, optical coherence tomography, computed tomography scan orbits, and magnetic resonance imaging of the brain...
August 17, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28816297/-perirenal-cystic-lymphangioma-in-an-adult-a-case-report-and-literature-review
#2
W He, Y C Hao, H Z Xia, R Z Ma, B Yang, J Lu
Lymphangioma is a rare, benign mesenchymal neoplasm, which is characterized by numerous intercommunicating cystic spaces containing lymphatic fluid. It is considered a congenital disease resulting from the obstruction of regional lymph drainage during the developmental period. Lymphangioma frequently occurs in the cervical neck and axilla, also in the retroperitoneum, mediastinum, mesentery, omentum, colon, and pelvis, rarely in the perirenal space. These tumors usually present in childhood, but infrequently, these also present in adults...
August 18, 2017: Beijing da Xue Xue Bao. Yi Xue Ban, Journal of Peking University. Health Sciences
https://www.readbyqxmd.com/read/28815188/painless-aortic-dissection-diagnostic-dilemma-with-fatal-outcomes-what-do-we-learn
#3
Saeeda Fatima, Konika Sharma
Aortic dissection is the most catastrophic clinical condition that involves the aorta. It has a high mortality as well as high rate of misdiagnosis due to frequent unusual presentation. Typically, it presents with acute chest, back, and tearing abdominal pain. However, it can present atypically with minimal or no pain, making diagnosis difficult. Physicians should always suspect acute aortic dissection in patients with certain clinical conditions like difficult-to-control hypertension, giant cell arteritis, bicuspid aortic valve, intracranial aneurysms, simple renal cysts, family history of aortic disease, and Marfan syndrome, especially when a patient presents with ischemic symptoms involving multiple organ without an obvious cause...
July 2017: Journal of Investigative Medicine High Impact Case Reports
https://www.readbyqxmd.com/read/28814334/abernethy-malformation-associated-with-caroli-s-syndrome-in-a-patient-with-a-pkhd1-mutation-a-case-report
#4
Xiao-Xiao Mi, Xiao-Guang Li, Zi-Rong Wang, Ling Lin, Chun-Hai Xu, Jun-Ping Shi
BACKGROUND: Abernethy malformation is a rare congenital anomaly characterised by the partial or complete absence of the portal vein and the subsequent development of an extrahepatic portosystemic shunt. Caroli's disease is a rare congenital condition characterised by non-obstructive saccular intrahepatic bile duct dilation. Caroli's disease combined with congenital hepatic fibrosis and/or renal cystic disease is referred to - Caroli's syndrome. The combination of Abernethy malformation and Caroli's syndrome has not been reported previously...
August 16, 2017: Diagnostic Pathology
https://www.readbyqxmd.com/read/28810583/kidney-dysfunction-following-adrenalectomy-in-autosomal-dominant-polycystic-kidney-disease-complicated-with-primary-aldosteronism-a-case-report
#5
Hiroyuki Hirai, Makoto Kanno, Tsuyoshi Watanabe, Hiroaki Satoh
The present study reported a case of autosomal dominant polycystic kidney disease complicated with primary aldosteronism in a 49-year-old woman. The patient was referred for refractory hypertension. Laboratory examinations revealed low potassium and renin levels. Computed tomography indicated a right adrenal tumor and multiple renal cysts. Adrenal vein sampling revealed a high aldosterone level on the side of the tumor. The patient was diagnosed with autosomal dominant polycystic kidney disease complicated by primary aldosteronism and adrenalectomy was performed...
August 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28806253/variable-mibg-activity-in-the-same-renal-cyst
#6
Xiaofei Zhao, Hongming Zhuang
A series of I-MIBG scanning was performed in a 33-year-old woman with a history of ganglioneuroblastoma and a known left renal cyst. The initial studies did not reveal any MIBG activity in the renal cyst. However, increased MIBG activity was noted in the same renal cyst in the subsequent follow-up scans.
August 12, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28802235/steviol-stabilizes-polycystin-1-expression-and-promotes-lysosomal-degradation-of-cftr-and-%C3%AE-catenin-proteins-in-renal-epithelial-cells
#7
Chaowalit Yuajit, Chatchai Muanprasat, Sureeporn Homvisasevongsa, Varanuj Chatsudthipong
Malfunction of polycystin 1 (PC1) is linked to abnormally high epithelial cell proliferation and fluid secretion, eventually leading to renal cyst development and declined renal function as found in autosomal dominant polycystic kidney disease (ADPKD). Currently, there is no effective therapy for ADPKD. Recent studies report PC1 regulates CFTR chloride channels and β-catenin levels in normal renal epithelial cells. Concurrently, our previous study found steviol retarded renal cyst enlargement in an in vitro and in an in vivo models by reducing CFTR expression and activity...
August 9, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28794599/beware-a-simple-renal-cyst-could-be-a-hydatid-cyst
#8
Nidhi Sehgal, Vinod Priyadarshi
Kidney is one of the most common sites for the cyst formation in the body, and the management of simple cysts is required entirely for its symptoms and complications. Surgical decortication is an established treatment for a large and symptomatic simple renal cyst. On the other hand, hydatid cysts of the kidney are usually multiloculated complex or calcified cysts and are quite rare. Their surgical treatment also differs and requires complete excision with pericystectomy or partial/complete nephrectomy depending upon residual functional parenchyma, using extreme caution to avoid spillage, recurrence or development of severe anaphylactic shock...
July 2017: Urology Annals
https://www.readbyqxmd.com/read/28794366/regression-of-crizotinib-associated-complex-cystic-lesions-after-switching-to-alectinib
#9
Kageaki Taima, Hisashi Tanaka, Yoshihito Tanaka, Masamichi Itoga, Shingo Takanashi, Sadatomo Tasaka
Crizotinib, which is effective in patients with anaplastic lymphoma kinase (ALK) positive non-small cell lung cancer, is sometimes associated with the generation of complex renal cysts. A 56-year-old man with ALK positive adenocarcinoma received crizotinib. Ten months after the introduction of crizotinib, a cystic lesion developed from his right kidney to the iliopsoas muscle, accompanied by fever, anemia, and hypoproteinemia. After 17 months of treatment, crizotinib was switched to alectinib, followed by the recovery of hypoproteinemia and systemic inflammation...
August 10, 2017: Internal Medicine
https://www.readbyqxmd.com/read/28790143/structural-and-functional-changes-in-human-kidneys-with-healthy-aging
#10
REVIEW
Musab S Hommos, Richard J Glassock, Andrew D Rule
Aging is associated with significant changes in structure and function of the kidney, even in the absence of age-related comorbidities. On the macrostructural level, kidney cortical volume decreases, surface roughness increases, and the number and size of simple renal cysts increase with age. On the microstructural level, the histologic signs of nephrosclerosis (arteriosclerosis/arteriolosclerosis, global glomerulosclerosis, interstitial fibrosis, and tubular atrophy) all increase with age. The decline of nephron number is accompanied by a comparable reduction in measured whole-kidney GFR...
August 8, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28776935/shorter-telomere-length-increases-age-related-tumor-risks-in-von-hippel-lindau-disease-patients
#11
Jiang-Yi Wang, Shuang-He Peng, Xiang-Hui Ning, Teng Li, Sheng-Jie Liu, Jia-Yuan Liu, Bao-An Hong, Nie-Nie Qi, Xiang Peng, Bo-Wen Zhou, Jiu-Feng Zhang, Lin Cai, Kan Gong
Von Hippel-Lindau (VHL) disease is a rare autosomal dominant cancer syndrome caused by alterations of VHL gene. Patients are predisposed to develop pheochromocytomas and solid or cystic tumors of the central nervous system, kidney, pancreas, and retina. Remarkable phenotypic heterogeneity exits in organ involvement and tumor onset age between and within VHL families. However, no reliable markers have been found to predict the age-related tumor risks in VHL patients. A large Chinese cohort composed of 300 VHL patients and 92 healthy family controls was enrolled in our study...
August 4, 2017: Cancer Medicine
https://www.readbyqxmd.com/read/28766492/mody3-renal-cysts-and-dandy-walker-variants-with-a-microdeletion-spanning-the-hnf1a-gene
#12
Hiro Matsukura, Mariko Nagamori, Kazushi Miya, Tohru Yorifuji
Heterozygous hepatocyte nuclear factor-1-α gene (<italic>HNF1A</italic>) mutations are the most common cause of maturity-onset diabetes of the young (MODY), but they rarely involve extrahepatic manifestations. Renal cysts and diabetes syndrome can be caused by <italic>HNF1B</italic> mutations. No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutations might be responsible for renal malformations. In a Japanese girl with glycosuria, developmental delay, mental retardation, renal cysts, and DWV, the <italic>HNF1B</italic> gene had no mutations...
September 2017: Clinical Nephrology
https://www.readbyqxmd.com/read/28764140/computed-tomographic-estimation-of-relationship-between-renal-volume-and-body-weight-of-an-individual
#13
Shweta Sudhakar Talhar, Jwalant E Waghmare, Lipika Paul, Sushilkumar Kale, Moreshwar R Shende
INTRODUCTION: Knowledge of normal range of size and volume of abdominal organs plays a vital role in clinical practices as various medical conditions affects the abdominal organs causing alteration in their dimensions. AIM: The present retrospective study was done to establish the normal range of renal volume in study population and to see the correlation between renal volume and body weight of an individual. MATERIALS AND METHODS: Computed tomographic evaluations of kidneys were performed on 140 kidneys of 70 individuals who had undergone abdominal CT scan for indications other than renal disease...
June 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28762163/polycystin-2-dependent-cardio-protective-mechanisms-revealed-by-cardiac-stress
#14
Esther Giehl, Fernanda O Lemos, Yan Huang, Frank J Giordano, Ivana Y Kuo, Barbara E Ehrlich
Although autosomal dominant polycystic kidney disease (ADPKD) is characterized by the development of multiple kidney cysts, the most frequent cause of death in ADPKD patients is cardiovascular disease. ADPKD is linked to mutations in PKD1 or pkd2, the genes that encode for the proteins polycystin 1 and polycystin 2 (PC1 and PC2, respectively). The cardiovascular complications have been assumed to be a consequence of renal hypertension and activation of renin/angiotensin/aldosterone (RAAS) pathway. However, the expression of PC1 and PC2 in cardiac tissue suggests additional direct effects of these proteins on cardiac function...
July 31, 2017: Pflügers Archiv: European Journal of Physiology
https://www.readbyqxmd.com/read/28761593/case-series-transplantation-of-kidneys-from-donors-with-renal-artery-aneurysm
#15
Mahmoud Alameddine, Zhobin Moghadamyeghaneh, Giselle Guerra, Mahmoud Morsi, Mohammed Osman, V J Chia, George W Burke, Linda Chen, Rodrigo Vianna, Ian Zheng, Javier González, Gaetano Ciancio
INTRODUCTION: With the present disparity between organ availability and recipient demands, we reported our experience in transplanting kidneys with renal artery aneurysm after back-table reconstruction. METHODS: Four patients were identified. The repair consisted of excision of the aneurysm with ostial closure, and for one of the cases, an ovarian vein patch was used. We reviewed the safety and outcomes of this procedure. All donors were asymptomatic before surgery and were diagnosed incidentally during living donor evaluation...
July 2017: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/28761236/primary-renal-echinococcosis
#16
Vishal V Ramteke, Nishant S Deshpande, Manish R Balwani, Charulata P Bawankule
Echinococcosis is a parasitic infection caused by the larval stage of a cestode Echinococcus granulosus and is endemic in sheep farming regions of developing countries. It manifests as hydatid cyst and most commonly is found in liver followed by lungs. Renal hydatid cyst is rare and amounts for 2% of all cases. There are no specific clinical manifestations, and hence diagnosis of renal hydatid disease is missed out easily without imaging. We report a case of 50-year-old female who had 6 months history of lower abdominal pain with hematuria, found to have right renal hydatid cyst on imaging which was treated with right nephrectomy with pre- and post-operative albendazole treatment...
July 2017: Indian Journal of Nephrology
https://www.readbyqxmd.com/read/28760196/effects-of-pep-1-fk506bp-on-cyst-formation-in-polycystic-kidney-disease
#17
Hyo Sang Jo, Won Sik Eum, Eun Young Park, Je Young Ko, Do Yeon Kim, Dae Won Kim, Min Jea Shin, Ora Son, Su Bin Cho, Jung Hwan Park, Chi Hern Lee, Eun Ji Yeo, Hyeon Ji Yeo, Yeon Joo Choi, Jong Kyu Youn, Sung-Woo Cho, Jinseu Park, Jong Hoon Park, Soo Young Choi
Polycystic kidney disease (PKD) is one of the most common inherited disorders, whereby progressive cyst formation in the kidney leads to renal failure. FK506 binding protein 12 (FK506BP) is an immunophilin protein which performs multiple functions including regulation of cell signaling and survival. In this study, we determined the roles of PEP-1-FK506BP on cell proliferation and cyst formation in PKD cells. Purified PEP-1-FK506BP transduced into PKD cells and markedly inhibited cell proliferation. Also, PEP-1-FK506BP drastically inhibited the expression levels of p-Akt, p-p70S6K, p-mTOR, and p-ERK in PKD cells...
July 28, 2017: BMB Reports
https://www.readbyqxmd.com/read/28757600/relative-computed-tomography-ct-enhancement-value-for-the-assessment-of-microvascular-architecture-in-renal-cell-carcinoma
#18
Ai-Mei Ouyang, Zhao-Long Wei, Xin-You Su, Kun Li, Dong Zhao, De-Xin Yu, Xiang-Xing Ma
BACKGROUND To investigate the correlation between the relative computed tomography (CT) enhancement value and the microvascular architecture in different pathologic subtypes of renal cell carcinoma (RCC). MATERIAL AND METHODS This retrospective study included 55 patients with pathologically confirmed RCC. Immunohistochemistry for CD34 was performed for all surgical specimens. Microvascular architecture parameters (density, area, diameter, and perimeter) for the microvessels and the microvessels with lumen were determined...
July 31, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28755789/minimally-complex-renal-cysts-outcomes-and-ultrasound-evaluation-compared-with-contrast-enhanced-cross-sectional-imaging-bosniak-classification
#19
Marilia Henrique Destefani, Jorge Elias, Annelise Manzano Serra Negra Trazzi, Plinio Prizon Kajiwara, Aila Ferreira de Menezes, Rodolfo Borges Dos Reis, Valdair Francisco Muglia
We correlated contrast-enhanced cross-sectional imaging and outcomes to assess the reproducibility of ultrasonographic criteria for renal minimally complex (MC) cysts. From 2003 to 2015, 143 cysts were described as complex or MC by ultrasound (US). After exclusions, 98 US studies were retrospectively evaluated and compared with computed tomography (CT)/magnetic resonance imaging (MRI). At sonography, 51 were MC cysts and 47 were complexes according to two independent observers. Inter-observer agreement for US was 0...
October 2017: Ultrasound in Medicine & Biology
https://www.readbyqxmd.com/read/28754558/magnetic-resonance-t2-mapping-and-diffusion-weighted-imaging-for-early-detection-of-cystogenesis-and-response-to-therapy-in-a-mouse-model-of-polycystic-kidney-disease
#20
Mareike Franke, Bettina Baeßler, Jan Vechtel, Claudia Dafinger, Martin Höhne, Lori Borgal, Heike Göbel, Friederike Koerber, David Maintz, Thomas Benzing, Bernhard Schermer, Thorsten Persigehl
Polycystic kidney disease (PKD) is among the leading causes of end-stage renal disease. Increasing evidence exists that molecular therapeutic strategies targeted to cyst formation and growth might be more efficacious in early disease stages, highlighting the growing need for sensitive biomarkers. Here we apply quantitative magnetic resonance imaging techniques of T2 mapping and diffusion-weighted imaging in the jck mouse model for PKD using a clinical 3.0 T scanner. We tested whether kidney T2 values and the apparent diffusion coefficient (ADC) are superior to anatomical imaging parameters in the detection of early cystogenesis, as shown on macro- and histopathology...
July 26, 2017: Kidney International
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