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https://www.readbyqxmd.com/read/28527200/contrast-enhanced-ultrasound-ceus-in-renal-imaging-at-an-interdisciplinary-ultrasound-centre-possibilities-of-dynamic-microvascularisation-and-perfusion
#1
Franz Josef Putz, Anna Erlmeier, Isabel Wiesinger, Niklas Verloh, Christian Stroszczynski, Bernhard Banas, Ernst Michael Jung
OBJECTIVE: To identify the indications for CEUS in renal imaging in an interdisciplinary ultrasound department. METHODS: 102 CEUS examinations of the kidney in 82 patients between September 2014 and July 2016 were analysed regarding the indication for ultrasound. CEUS was performed by one experienced sonographer agent after bolus injection of 1.0 up to 2.4 ml sulphur hexafluoride microbubbles using multifrequency probes with Contrast Harmonic imaging. RESULTS: CEUS of the kidney was performed in patients from 20 to 87 years...
May 19, 2017: Clinical Hemorheology and Microcirculation
https://www.readbyqxmd.com/read/28522934/xanthogranulomatous-pyelonephritis-presenting-as-a-type-iv-renal-cyst
#2
Indraneel Banerjee, Vinay Tomar, Sher Singh Yadav, Nachiket Vyas, Shyam Talreja
A 20-year-old woman presented to our outpatient clinic with a 5-week history of recurrent right lumbar back pain. Contrast-enhanced computed tomography scan showed a Bosniak class IV renal cyst. She was treated with radical nephrectomy. Histopathology revealed xanthogranulomatous pyelonephritis.
2017: Reviews in Urology
https://www.readbyqxmd.com/read/28522687/integrin-linked-kinase-signaling-promotes-cyst-growth-and-fibrosis-in-polycystic-kidney-disease
#3
Archana Raman, Gail A Reif, Yuqiao Dai, Aditi Khanna, Xiaogang Li, Lindsay Astleford, Stephen C Parnell, James P Calvet, Darren P Wallace
Autosomal dominant polycystic kidney disease (ADPKD) is characterized by innumerous fluid-filled cysts and progressive deterioration of renal function. Previously, we showed that periostin, a matricellular protein involved in tissue repair, is markedly overexpressed by cyst epithelial cells. Periostin promotes cell proliferation, cyst growth, interstitial fibrosis, and the decline in renal function in PKD mice. Here, we investigated the regulation of these processes by the integrin-linked kinase (ILK), a scaffold protein that links the extracellular matrix to the actin cytoskeleton and is stimulated by periostin...
May 18, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28515908/renal-manifestations-of-primary-mitochondrial-disorders
#4
Josef Finsterer, Fulvio Scorza
The aim of the present review was to summarize and discuss previous findings concerning renal manifestations of primary mitochondrial disorders (MIDs). A literature review was performed using frequently used databases. The study identified that primary MIDs frequently present as mitochondrial multiorgan disorder syndrome (MIMODS) at onset or in the later course of the MID. Occasionally, the kidneys are affected in MIDs. Renal manifestations of MIDs include renal insufficiency, nephrolithiasis, nephrotic syndrome, renal cysts, renal tubular acidosis, Bartter-like syndrome, Fanconi syndrome, focal segmental glomerulosclerosis, tubulointerstitial nephritis, nephrocalcinosis, and benign or malign neoplasms...
May 2017: Biomedical Reports
https://www.readbyqxmd.com/read/28515418/automatic-segmentation-of-kidneys-using-deep-learning-for-total-kidney-volume-quantification-in-autosomal-dominant-polycystic-kidney-disease
#5
Kanishka Sharma, Christian Rupprecht, Anna Caroli, Maria Carolina Aparicio, Andrea Remuzzi, Maximilian Baust, Nassir Navab
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common inherited disorder of the kidneys. It is characterized by enlargement of the kidneys caused by progressive development of renal cysts, and thus assessment of total kidney volume (TKV) is crucial for studying disease progression in ADPKD. However, automatic segmentation of polycystic kidneys is a challenging task due to severe alteration in the morphology caused by non-uniform cyst formation and presence of adjacent liver cysts. In this study, an automated segmentation method based on deep learning has been proposed for TKV computation on computed tomography (CT) dataset of ADPKD patients exhibiting mild to moderate or severe renal insufficiency...
May 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28511219/-innovative-ultrasound-contrast-enhanced-ultrasound-of-the-kidneys
#6
Konrad Stock, Herbert Kübler, Tobias Maurer, Daniel Weiss, Hans-Peter Weskott, Uwe Heemann
Ultrasound examination of the kidneys with grey-scale imaging and colour Doppler ultrasound is the most common renal imaging modality. A few years ago, contrast-enhanced ultrasound (CEUS) emerged as a non-invasive perfusion imaging modality to evaluate the renal vessels and microvascularisation. These contrast media contain intravenous microbubbles (sulfur hexafluoride), which have no deleterious effect on renal function. Being free of iodine, they also pose no risk for the thyroid gland. CEUS of the kidneys is mainly used for the evaluation of renal cysts and the analysis of renal lesions suspicious for malignancy...
April 2017: Aktuelle Urologie
https://www.readbyqxmd.com/read/28509130/acute-pulmonary-thromboembolism-occurring-during-treatment-with-tolvaptan-in-a-patient-with-autosomal-dominant-polycystic-kidney-disease
#7
Katsuhiko Morimoto, Yasuhiro Akai, Masaru Matsui, Hiroki Yano, Miho Tagawa, Ken-Ichi Samejima, Yoshihiko Saito
Autosomal-dominant polycystic kidney disease (ADPKD) is the most prevalent cystic kidney disease, with approximately half of the patients reaching end-stage renal disease by the age of 60. Tolvaptan prevents renal cyst growth by inhibiting intracellular cyclic AMP and is recommended for patients with ADPKD. Reports of thrombotic complications with tolvaptan have been limited. We report a case of a 60-year-old man who developed thromboembolisms during tolvaptan treatment for ADPKD. The patient started tolvaptan in July 2014...
January 24, 2017: CEN Case Reports
https://www.readbyqxmd.com/read/28507058/hepatocyte-nuclear-factor-1%C3%AE-regulates-urinary-concentration-and-response-to-hypertonicity
#8
Karam Aboudehen, Lama Noureddine, Patricia Cobo-Stark, Svetlana Avdulov, Shayan Farahani, Micah D Gearhart, Daniel G Bichet, Marco Pontoglio, Vishal Patel, Peter Igarashi
The transcription factor hepatocyte nuclear factor-1β (HNF-1β) is essential for normal kidney development and function. Inactivation of HNF-1β in mouse kidney tubules leads to early-onset cyst formation and postnatal lethality. Here, we used Pkhd1/Cre mice to delete HNF-1β specifically in renal collecting ducts (CDs). CD-specific HNF-1β mutant mice survived long term and developed slowly progressive cystic kidney disease, renal fibrosis, and hydronephrosis. Compared with wild-type littermates, HNF-1β mutant mice exhibited polyuria and polydipsia...
May 15, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28503470/falsely-elevated-postvoid-residual-urine-volume-in-uterine-myoma
#9
Tae Hee Kim, Hyo Sang Kim, Jung Wook Park, Oh Kyung Lim, Ki Deok Park, Ju Kang Lee
Precise measurement of postvoid residual (PVR) urine volume is a key factor in assessing patients with voiding dysfunction, including those with lower urinary tract problems. The safe and noninvasive ultrasound bladder scan is the preferred mode to measure PVR volume. However, this procedure has a false-positive rate up to 9%, in the presence of ovarian cysts, renal cysts, ascites, or uterine myoma with cystic degeneration. Until now, cystic lesions are known to cause false positivity in ultrasound bladder scanner...
April 2017: Annals of Rehabilitation Medicine
https://www.readbyqxmd.com/read/28503272/von-hippel-lindau-disease
#10
Sna Muhamad Nor, J Haron
Von Hippel-Lindau (VHL) disease is a rare autosomal dominantly inherited multisystem disorder characterised by the development of a variety of benign and malignant tumours. We report a case of VHL disease that was inherited by a daughter from her father, who both presented at a young age with progressive headache and were found to have a posterior fossa haemangioblastoma (HB) on magnetic resonance imaging (MRI). Multiple benign pancreatic and renal cysts were also noted in both patients.
2017: Malaysian Family Physician
https://www.readbyqxmd.com/read/28502372/early-onset-acute-recurrent-and-chronic-pancreatitis-is-associated-with-prss1-or-ctrc-gene-mutations
#11
Matthew J Giefer, Mark E Lowe, Steven L Werlin, Bridget Zimmerman, Michael Wilschanski, David Troendle, Sarah Jane Schwarzenberg, John F Pohl, Joseph Palermo, Chee Y Ooi, Veronique D Morinville, Tom K Lin, Sohail Z Husain, Ryan Himes, Melvin B Heyman, Tanja Gonska, Cheryl E Gariepy, Steven D Freedman, Douglas S Fishman, Melena D Bellin, Bradley Barth, Maisam Abu-El-Haija, Aliye Uc
OBJECTIVES: To assess whether the age of onset was associated with unique features or disease course in pediatric acute recurrent pancreatitis (ARP) or chronic pancreatitis (CP). STUDY DESIGN: Demographic and clinical information on children with ARP or CP was collected at INSPPIRE (INternational Study Group of Pediatric Pancreatitis: In Search for a CuRE) centers. The Cochran-Armitage trend test and Jonckheere-Terpstra test were used to examine for differences between pediatric age groups (<6, 6-11, and ≥12 years)...
May 9, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28501615/the-changes-in-glucose-metabolism-and-cell-proliferation-in-the-kidneys-of-polycystic-kidney-disease-mini-pig-models
#12
Xiaoying Lian, Jing Zhao, Xiaoyuan Wu, Yingjie Zhang, Qinggang Li, Shupeng Lin, Xue-Yuan Bai, Xiangmei Chen
The pathogenic mechanism of polycystic kidney disease (PKD) is unclear. Abnormal glucose metabolism is maybe involved in hyper-proliferation of renal cyst epithelial cells. Mini-pigs are more similar to humans than rodents and therefore, are an ideal large animal model. In this study, for the first time, we systematically investigated the changes in glucose metabolism and cell proliferation signaling pathways in the kidney tissues of chronic progressive PKD mini-pig models created by knock-outing PKD1gene. The results showed that in the kidneys of PKD mini-pigs, the glycolysis is increased and the expressions of key oxidative phosphorylation enzymes Complexes I and IV significantly decreased...
May 10, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28499761/cystadenoma-of-the-rete-testis-in-a-patient-with-von-hippel-lindau-disease
#13
Jacob Lewis, David Thiel, Gregory Broderick, Candice Bolan
Von-Hippel Lindau (VHL) disease is a rare, inherited multicystic disorder that is characterized by several benign and malignant neoplasms (1). Classically, the disease manifests itself in a broad spectrum including: renal cell carcinomas, intracranial and spinal hemangioblastomas, endolymphatic sac tumors, renal and pancreatic cysts, and pheochromocytomas. Another important, but commonly forgotten manifestation is the cystadenoma of the rete testis.
May 9, 2017: Urology
https://www.readbyqxmd.com/read/28499369/characterization-of-a-splice-site-mutation-in-the-tumor-suppressor-gene-flcn-associated-with-renal-cancer
#14
Malte P Bartram, Tripti Mishra, Nadine Reintjes, Francesca Fabretti, Hakam Gharbi, Alexander C Adam, Heike Göbel, Mareike Franke, Bernhard Schermer, Stefan Haneder, Thomas Benzing, Bodo B Beck, Roman-Ulrich Müller
BACKGROUND: Renal cell carcinoma is among the most prevalent malignancies. It is generally sporadic. However, genetic studies of rare familial forms have led to the identification of mutations in causative genes such as VHL and FLCN. Mutations in the FLCN gene are the cause of Birt-Hogg-Dubé syndrome, a rare tumor syndrome which is characterized by the combination of renal cell carcinoma, pneumothorax and skin tumors. METHODS: Using Sanger sequencing we identify a heterozygous splice-site mutation in FLCN in lymphocyte DNA of a patient suffering from renal cell carcinoma...
May 12, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28498973/chordoma-occurs-in-young-children-with-tuberous-sclerosis
#15
Nathan A Dahl, Timothy Luebbert, Michele Loi, Ilana Neuberger, Michael H Handler, Bette Kay Kleinschmidt-DeMasters, Jean M Mulcahy Levy
Chordomas are rare bony neoplasms usually unassociated with a familial tumor predisposition syndrome. The peak incidence of this midline axial skeletal tumor is in adulthood but when very young children are affected, consideration should be given to occurrence within the tuberous sclerosis (TS) complex, especially when presenting in neonates <3 months of age. To call attention to this association, we present a brachyury-immunopositive chordoma occurring in the skull base of a 2-month-old male infant who was later realized to have metastases to the subcutaneous tissues and lungs, as well as rhabdomyoma of the heart and renal cysts/angiomyolipomas, that is, characteristic features of the TS complex...
June 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28496353/early-manifestations-of-renal-disease-in-patients-with-tuberous-sclerosis-complex
#16
Laura Malaga-Dieguez, Robert Spencer, Laura J Pehrson, Suzanne Vento, Kimberly Menzer, Orrin Devinsky, Howard Trachtman
OBJECTIVES: Renal manifestations are the second most significant cause of morbidity and mortality in patients with tuberous sclerosis complex (TSC), and include renal cysts, angiomyolipomas, fat-poor lesions, and malignant tumors. These lesions begin in childhood and often lead to chronic kidney disease (CKD). Little is known on the incidence of early modifiable risk factors of CKD, such as proteinuria and hypertension, or subtle decreases in glomerular filtration rate that correspond to the early stages of CKD in children with TSC...
2017: International Journal of Nephrology and Renovascular Disease
https://www.readbyqxmd.com/read/28494735/perspectives-of-gene-therapies-in-autosomal-dominant-polycystic-kidney-disease
#17
Yuchen Xu, Ao Li, Guanqing Wu, Chaozhao Liang
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease in the clinic. The predominant clinical manifestation is bilateral and progressive cysts formation in the kidneys, impairs normal renal parenchyma, and ultimately leads to end-stage renal disease (ESRD). ADPKD is a heterogenic disease which is resulted from the mutations of PKD1 or PKD2 genes which encode polycystin-1 (PC1) and -2 (PC2), thereby multiple cell signaling pathways are involved. Although causative genes and aberrant signaling pathways have been investigated for decades, lack of effective and less side-effect treatment for the disease still perplex vast clinicians...
May 10, 2017: Current Gene Therapy
https://www.readbyqxmd.com/read/28494441/different-successful-management-strategies-for-obstructing-renal-parapelvic-cysts
#18
Sabrina H Rossi, Brendan Koo, Antony Riddick, Nimish Shah, Grant D Stewart
Parapelvic cysts originate in the renal parenchyma and extend into the renal sinus. A series of 3 patients with symptomatic obstructing parapelvic cysts is described, 2 with acute presentations, and 1 with chronic symptoms. In 2 of the 3 cases, there was a significant delay in establishing a diagnosis. Although one individual was successfully managed by image-guided cyst aspiration, the second patient required repeated aspiration due to cyst re-accumulation. A high index of clinical suspicion and a combination of imaging modalities, including serial ultrasound, excretory-phase CT, and MAG3 renogram, are necessary to establish the diagnosis and monitor response to treatment...
May 12, 2017: Urologia Internationalis
https://www.readbyqxmd.com/read/28493804/hereditary-renal-cystic-disorders-imaging-of-the-kidneys-and-beyond
#19
Jonathan R Dillman, Andrew T Trout, Ethan A Smith, Alexander J Towbin
The purpose of this article is to review the hereditary renal cystic diseases that can manifest in children and adults, with specific attention to pathogenesis and imaging features. Various common and uncommon hereditary renal cystic diseases are reviewed in terms of their underlying etiology, including the involved genetic mutations and the affected proteins and cellular structures. Focus is placed on the morphologic findings in each condition and the features that distinguish one disorder from another. The two most common categories of hereditary renal cystic disease are (a) the ciliopathic disorders, which are related to mutations affecting the primary cilia (called "ciliopathies"), and (b) the phakomatoses...
May 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28487520/an-ovine-hepatorenal-fibrocystic-model-of-a-meckel-like-syndrome-associated-with-dysmorphic-primary-cilia-and-tmem67-mutations
#20
C Stayner, C A Poole, S R McGlashan, M Pilanthananond, R Brauning, D Markie, B Lett, L Slobbe, A Chae, A C Johnstone, C G Jensen, J C McEwan, K Dittmer, K Parker, A Wiles, W Blackburne, A Leichter, M Leask, A Pinnapureddy, M Jennings, J A Horsfield, R J Walker, M R Eccles
Meckel syndrome (MKS) is an inherited autosomal recessive hepatorenal fibrocystic syndrome, caused by mutations in TMEM67, characterized by occipital encephalocoele, renal cysts, hepatic fibrosis, and polydactyly. Here we describe an ovine model of MKS, with kidney and liver abnormalities, without polydactyly or occipital encephalocoele. Homozygous missense p.(Ile681Asn; Ile687Ser) mutations identified in ovine TMEM67 were pathogenic in zebrafish phenotype rescue assays. Meckelin protein was expressed in affected and unaffected kidney epithelial cells by immunoblotting, and in primary cilia of lamb kidney cyst epithelial cells by immunofluorescence...
May 9, 2017: Scientific Reports
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