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https://www.readbyqxmd.com/read/28077753/prevalence-location-and-concurrent-diseases-of-ultrasonographic-cyst-like-lesions-of-abdominal-lymph-nodes-in-dogs
#1
A Liotta, F Billen, M Heimann, A Hamaide, M Rizza, A L Etienne, G Bolen
Lymph nodal cyst-like lesions are occasionally identified during abdominal ultrasound in dogs. However, a study evaluating their prevalence and clinical significance is lacking. The aim of this observational cross-sectional study was to evaluate prevalence, most common location and concurrent diseases of cyst-like lymph nodes detected during abdominal ultrasound. Affected lymph nodes, patient signalment and concurrent diseases of dogs with cyst-like lymph nodal lesions having undergone abdominal ultrasound over a one-year period were recorded...
January 11, 2017: Veterinary Record
https://www.readbyqxmd.com/read/28077374/parallel-microarray-profiling-identifies-erbb4-as-a-determinant-of-cyst-growth-in-adpkd-and-a-prognostic-biomarker-for-disease-progression
#2
Andrew J Streets, Tajdida A Magayr, Linghong Huang, Laura Vergoz, Sandro Rossetti, Roslyn J Simms, Peter C Harris, Dorien J M Peters, Albert Cm Ong
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the fourth most common cause of end-stage renal disease. The disease course can be highly variable and treatment options are limited. To identify new therapeutic targets and prognostic biomarkers of disease, we conducted parallel discovery microarray profiling in normal and diseased human PKD1 cystic kidney cells. A total of 1515 genes and 5 miRNA were differentially expressed by more than two-fold in PKD1 cells. Functional enrichment analysis identified 30 dysregulated signalling pathways including the epidermal growth factor (EGF) receptor pathway...
January 11, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/28072736/von-hippel-lindau-disease-involving-pancreas-and-biliary-system-a-rare-case-report
#3
Xu-Ting Zhi, Qi-Yu Bo, Feng Zhao, Dong Sun, Tao Li
RATIONALE: Von Hippel-Lindau (VHL) disease is a rare inherited, autosomal-dominant syndrome caused by heterozygous germline mutations in the VHL gene. VHL patients are prone to develop benign and malignant tumors and cysts in multiple organ systems involving kidneys, pancreas and central nervous system (CNS). The varied and complex clinical manifestations and radiological findings of VHL are of interest. PATIENT CONCERNS: We report a 38-year-old woman with a ten-year history of VHL disease involving both pancreas and biliary system...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28069055/novel-germline-mutations-in-flcn-gene-identified-in-two-chinese-patients-with-birt-hogg-dub%C3%A3-syndrome
#4
Teng Li, Xianghui Ning, Qun He, Kan Gong
Birt-Hogg-Dubé (BHD) syndrome, a hereditary renal cancer syndrome caused by mutations in the folliculin (FLCN) gene, is characterized by the presence of fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax, and renal cell carcinoma (RCC). Few BHD syndrome cases have been reported in Asian countries, and cutaneous presentations are relatively rare in Asian patients. Asian BHD patients may be misdiagnosed due to their atypical manifestations. Here, we report two Chinese BHD patients with novel FLCN mutations (c...
January 9, 2017: Chinese Journal of Cancer
https://www.readbyqxmd.com/read/28068796/partial-nephrectomy-for-presumed-renal-cell-carcinoma-incidence-predictors-and-perioperative-outcomes-of-benign-lesions
#5
Tyler Marques Bauman, Aaron Potretzke, Alec J Wright, Brent Alexander Knight, Joel M Vetter, Robert S Figenshau
BACKGROUND: The aim of this study was to investigate the incidence of benign histology after partial nephrectomy (PN) in patients with presumed malignancy from preoperative imaging. Further, preoperative predictors of benign lesions and perioperative outcomes were also assessed. METHODS: A series of patients undergoing PN for renal masses was identified using a prospectively maintained database. Patients were excluded for known genetic conditions, if more than one renal mass was resected, or if standard preoperative imaging was not suspicious for RCC...
January 9, 2017: Journal of Endourology
https://www.readbyqxmd.com/read/28058003/ruptured-emphysematous-renal-cyst
#6
Abdelrahman Yahya Mohamed, Fahad Quhal
Renal Cyst infections are rare, account for approximately 10% of causes for hospitalization in patients with adult polycystic kidney disease. We reported a rare case of ruptured emphysematous renal cyst with infection extending into the right perinephric space with gas forming organism involving the renal collecting system and the urinary bladder.
October 2016: Urology Annals
https://www.readbyqxmd.com/read/28057995/an-undiagnosed-giant-right-renal-hydatid-cyst-treated-laparoscopically-case-report-and-review-of-literature
#7
Elsawi Osman, Ziauddin Khan, Abdulmenem Abualsel, Tanweer Bhatty
Hydatid disease caused by the tape worm Echinococcus granulosus is a rare occurrence in the urinary system in general. We are hereby presenting a case of a gentleman in his fourth decade with a giant right renal hydatid cyst. The clinical manifestations, radiological features, and serology were all not suggestive of hydatid disease; however, typical Echinococcus scolices were detected histologically following cyst aspiration. The giant cyst was successfully treated laparoscopically.
October 2016: Urology Annals
https://www.readbyqxmd.com/read/28057124/-value-of-mri-in-prenatal-diagnosis-of-abnormal-fetal-kidneys
#8
H D Liu, H Yu, J G Zhao, X F Xu, N F Wang, W Wang, X Y He
Objective: To investigate the value of MRI in the prenatal diagnosis of abnormal fetal kidneys. Methods: From December 2014 to March 2016, 51 women underwent MRI and were confirmed as having fetuses with abnormal fetal kidneys when follow up. Their clinical and MRI profiles were analyzed retrospectively, including MRI manifestation, the fetal kidney signal intensity of diffusion-weighted imaging (DWI) and apparent diffusion coefficient (ADC). The signal intensity of DWI and ADC of the abnormal kidney and the normal opposite kidney, and those of the normal and abnormal kidneys in different individuals were compared...
December 25, 2016: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/28052724/unusual-presentations-of-enlarged-parathyroid-cysts-two-case-reports
#9
Aurore Pire, Antoine Buemi, Alessandra Camboni, Tom Darius, Luc De Pauw, Michel Mourad
INTRODUCTION: Parathyroid cysts are infrequently encountered and have a variable presentation pattern depending on their size, location and secreting character. PATIENTS AND METHODS: We report two cases of parathyroid cysts characterized by their uncommon clinical presentation. RESULTS: In the first case the patient presented with a large cervical cystic mass without hypercalcemia, while in the second case, the patient experienced a hypercalcemic crisis associated with acute renal failure...
January 5, 2017: Acta Chirurgica Belgica
https://www.readbyqxmd.com/read/28050464/senior-loken-syndrome
#10
Amarpreet Kaur, Shashi Kant Dhir, Geetika Goyal, Naveen Mittal, R K Goyal
Senior Loken Syndrome (SLS) is a rare genetic disorder having juvenile nephronophthisis and retinal degeneration progressing to blindness and end stage renal disease. The present case report is about two sisters who presented with decreased visual acuity and end stage renal disease. Both had decreased vision, pallor, deranged renal function test and chronic malnutrition. Investigations revealed anaemia, uraemia, raised creatinine, low Glomerular Filteration Rate (GFR). Ophthalmology examination revealed nystagmus, retinal examination depicted pale optic disc and pigmentary changes in the retina...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28042792/-cystic-nephroma-report-of-two-cases-and-bibliographic-review
#11
E Rodríguez-Zarco, S Pabon-Carrasco, C Romero-Abrio, F J Vázquez-Ramírez
OBJECTIVE: Multicystic nephroma (multilocular cystic nephroma, multilocular cyst) is a relatively rare benign neoplasm of the kidney. Most patients are asymptomatic and tumours are usually discovered incidentally. METHODS: Between 2010 and 2015, 2 patients with cystic nephroma at our institution were diagnosed and treated. Our study includes two new cases of cystic nephroma and a review of the literature about the differential diagnosis of a cystic renal mass. RESULTS: In this report we present two cases of multilocular cystic nephroma in a 75-year-old-female and a 33-year-old female...
December 2016: Archivos Españoles de Urología
https://www.readbyqxmd.com/read/28042048/gross-hematuria-in-infancy-a-case-of-renal-hemangioma-managed-endoscopically
#12
Bruce J Schlomer
A case of renal hemangioma in a male infant managed endoscopically is reported. The patient initially presented at 6 months of age to a nephrology clinic with gross hematuria and was found to have what was thought to be a renal cyst. He was referred to urology clinic at 18 months after having continued gross hematuria and negative nephrology evaluation. A magnetic resonance imaging suggested an enhancing mass in the renal pelvis and hydronephrotic upper pole cyst that was mistaken as cyst on ultrasound. A 1...
December 29, 2016: Urology
https://www.readbyqxmd.com/read/28038707/cystic-and-necrotic-papillary-renal-cell-carcinoma-prognosis-morphology-immunohistochemical-and-molecular-genetic-profile-of-10-cases
#13
Kvetoslava Peckova, Petr Martinek, Kristyna Pivovarcikova, Tomas Vanecek, Reza Alaghehbandan, Kristyna Prochazkova, Delia Perez Montiel, Milan Hora, Faruk Skenderi, Monika Ulamec, Pavla Rotterova, Ondrej Daum, Jiri Ferda, Whitney Davidson, Ondrej Ondic, Magdalena Dubova, Michal Michal, Ondrej Hes
Conflicting data have been published on the prognostic significance of tumor necrosis in papillary renal cell carcinoma (PRCC). Although the presence of necrosis is generally considered an adverse prognostic feature in PRCC, we report a cohort of 10 morphologically distinct cystic and extensively necrotic PRCC with favorable biological behavior. Ten cases of type 1 PRCC with a uniform morphologic pattern were selected from the 19 500 renal tumors, of which 1311 were PRCCs in our registry. We focused on precise morphologic diagnosis supported by immunohistochemical and molecular-genetic analysis...
February 2017: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/28031834/birt-hogg-dub%C3%A3-syndrome-in-an-indonesian-patient-with-folliculin-gene-mutation
#14
Wiwien Heru Wiyono, Fariz Nurwidya, Hario Baskoro, Andika Chandra Putra
Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant disorder that affects the skin, kidney, and lungs. Affected individuals have an increased risk of developing multiple cysts in the lungs and a spontaneous pneumothorax. Germline mutations in the folliculin (FLCN) gene have been confirmed as the aetiology of BHD syndrome. A 51-year-old Indonesian female presented with recurrent spontaneous pneumothorax, multiple cysts in both lungs, and a renal cyst on magnetic resonance imaging (MRI). Blood sampling was performed to extract genomic DNA from peripheral blood leucocytes...
November 2016: Respirology Case Reports
https://www.readbyqxmd.com/read/28018103/portal-hypertension-in-polycystic-liver-disease-patients-does-not-affect-wait-list-or-immediate-post-liver-transplantation-outcomes
#15
Neil Rajoriya, Dhiraj Tripathi, Joanna A Leithead, Bridget K Gunson, Sophie Lord, James W Ferguson, Gideon M Hirschfield
AIM: To establish the impact of portal hypertension (PH) on wait-list/post-transplant outcomes in patients with polycystic liver disease (PCLD) listed for liver transplantation. METHODS: A retrospective single-centre case controlled study of consecutive patients listed for liver transplantation over 12 years was performed from our centre. PH in the PCLD cohort was defined by the one or more of following parameters: (1) presence of radiological or endoscopic documented varices from our own centre or the referral centre; (2) splenomegaly (> 11 cm) on radiology in absence of splenic cysts accounting for increased imaging size; (3) thrombocytopenia (platelets < 150 × 10(9)/L); or (4) ascites without radiological evidence of hepatic venous outflow obstruction from a single cyst...
December 7, 2016: World Journal of Gastroenterology: WJG
https://www.readbyqxmd.com/read/28009417/multiple-chromophobe-and-clear-cell-renal-cancer-in-a-patient-affected-by-birt-hogg-dub%C3%A3-syndrome-a-case-report
#16
Roberto Castellucci, Michele Marchioni, Sergio Valenti, Giusepe Sortino, Giulio Borgonovo, Nicola Pesenti, Alberto C A Vismara, Maria C Circo, Barbara Sessa, Emanuele Micheli, Antonino Lembo
OBJECTIVES: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant characterized by the presence of fibrofolliculomas and/or trichodiscomas, pulmonary cysts, spontaneous pneumothorax, and renal tumors. The syndrome is linked to mutations in the FLCN gene, which is preferentially expressed in the skin, kidney, and lung. The aim of our paper is to describe a case of multiple bilateral renal cancer in a patient affected by BHDS. CASE PRESENTATION: Patient subjected to enucleoresection seven kidney tumors discovered right after ultrasound performed for other reasons...
December 16, 2016: Urologia
https://www.readbyqxmd.com/read/28007903/autophagy-activators-suppress-cystogenesis-in-an-autosomal-dominant-polycystic-kidney-disease-model
#17
Ping Zhu, Cynthia J Sieben, Xiaolei Xu, Peter C Harris, Xueying Lin
Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutations in either PKD1 or PKD2 It is one of the most common heritable human diseases with eventual development of renal failure; however, effective treatment is lacking. While inhibition of mechanistic target of rapamycin (mTOR) effectively slows cyst expansions in animal models, results from clinical studies are controversial, prompting further mechanistic studies of mTOR-based therapy. Here, we aim to establish autophagy, a downstream pathway of mTOR, as a new therapeutic target for PKD...
December 22, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/28003643/kaufman-oculo-cerebro-facial-syndrome-in-a-child-with-small-and-absent-terminal-phalanges-and-absent-nails
#18
Ariana Kariminejad, Norbert Fonya Ajeawung, Bita Bozorgmehr, Alexandre Dionne-Laporte, Sirinart Molidperee, Kimia Najafi, Richard A Gibbs, Brendan H Lee, Raoul C Hennekam, Philippe M Campeau
Kaufman oculo-cerebro-facial syndrome (KOS) is caused by recessive UBE3B mutations and presents with microcephaly, ocular abnormalities, distinctive facial morphology, low cholesterol levels and intellectual disability. We describe a child with microcephaly, brachycephaly, hearing loss, ptosis, blepharophimosis, hypertelorism, cleft palate, multiple renal cysts, absent nails, small or absent terminal phalanges, absent speech and intellectual disability. Syndromes that were initially considered include DOORS syndrome, Coffin-Siris syndrome and Dubowitz syndrome...
December 22, 2016: Journal of Human Genetics
https://www.readbyqxmd.com/read/27932093/midterm-results-of-renal-transplantation-from-controlled-cardiac-death-donors-are-similar-to-those-from-brain-death-donors
#19
O Lafuente, B Sánchez-Sobrino, M Pérez, P López-Sánchez, D Janeiro, E Rubio, A Huerta, M Marques, M R Llópez-Carratala, J J Rubio, J Portolés
BACKGROUND: The systematic use of grafts from controlled donors after cardiac death (cDCD) started in our country in 2012 and expanded with the strategic support of National Transplant Organization. We present our experience in kidney transplantation with organs from cDCD donors with a mean follow-up of 3 years. METHODS: Observational prospective study of all transplants performed in our center in 2012-2013 followed to 2016. The immunosuppression protocols were triple therapy for low-risk recipients from a standard brain death donor (DBD), adding basiliximab or thymoglobulin induction for extended-criteria donor or high-risk recipient, respectively, and thymoglobulin induction plus triple therapy for all cDCD recipients...
November 2016: Transplantation Proceedings
https://www.readbyqxmd.com/read/27921039/clinical-manifestation-and-management-of-adpkd-in-western-countries
#20
REVIEW
Claudia Sommerer, Martin Zeier
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease in Western countries. The prevalence is between 2.4/10,000 and 3.9/10,000. ADPKD represents a systemic disease resulting in deterioration in renal function. Until now, mutations in two genes (PKD1 and PKD2) have been identified. Recently, the European Medicines Agency (EMA) approved the use of the vasopressin V2 receptor antagonist tolvaptan to slow the progression of cyst development and renal insufficiency connected with ADPKD in adult patients with chronic kidney disease stages 1-3 at initiation of treatment with evidence of rapidly progressing disease...
October 2016: Kidney Diseases
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