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https://www.readbyqxmd.com/read/28714645/-extra-renal-manifestations-of-the-autosomal-dominant-polycystic-kidney-disease
#1
Aurélie Butscher, Olivier Phan, Olivier Bonny
Extra-renal complications of autosomal dominant polycystic kidney disease (ADPKD) are often unrecognized. Liver cysts are usually benign, but may cause chronic pain, may interfere with nutrition and may necessitate partial liver resection or even liver transplant. Somatostatin analogs may be an alternative therapy. Cerebral aneurisms are rare, but devastating. They must be investigated in case of positive familial history. Cardiac valvulopathies will be searched for by echocardiography. Abdominal wall herniae are often identified during the physical exam in ADPKD patients...
February 22, 2017: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28709639/ganoderma-triterpenes-retard-renal-cyst-development-by-downregulating-ras-mapk-signaling-and-promoting-cell-differentiation
#2
Limin Su, Liying Liu, Yingli Jia, Lei Lei, Jiangfeng Liu, Shuai Zhu, Hong Zhou, Ruoyun Chen, Hua Ann Jenny Lu, Baoxue Yang
Autosomal dominant polycystic kidney disease (ADPKD) is a common monogenetic disease characterized by the progressive development of renal cysts with further need for effective therapy. Here our aim was to investigate the effect of Ganoderma triterpenes (GT) on the development of kidney cysts. Importantly, GT attenuated cyst development in two mouse models of ADPKD with phenotypes of severe cystic kidney disease. Assays for tubulogenesis showed that GT promoted epithelial tubule formation in MDCK cells, suggesting a possible effect on epithelial cell differentiation...
July 11, 2017: Kidney International
https://www.readbyqxmd.com/read/28705707/gata3-as-a-valuable-marker-to-distinguish-clear-cell-papillary-renal-cell-carcinomas-from-morphologic-mimics
#3
Jose G Mantilla, Tatjana Antic, Maria Tretiakova
Clear cell papillary renal cell carcinoma (CCPRCC) is a low-grade, indolent neoplasm, with no reported cases of death from disease or metastasis. These lesions can show clinical, morphologic and immunophenotypic overlap with several aggressive forms of renal cell carcinoma (RCC), including clear cell (CCRCC), translocation RCC and papillary RCC (PRCC) with cytoplasmic clearing. Given the difference in behavior, it is important to reliably separate these entities. We retrospectively reviewed 47 tumors from 45 patients with morphologic features of CCPRCC...
July 10, 2017: Human Pathology
https://www.readbyqxmd.com/read/28705069/characterization-of-incidental-renal-mass-with-dual-energy-ct-diagnostic-accuracy-of-effective-atomic-number-maps-for-discriminating-nonenhancing-cysts-from-enhancing-masses
#4
Achille Mileto, Brian C Allen, Jason A Pietryga, Alfredo E Farjat, Jessica G Zarzour, Davide Bellini, Lukas Ebner, Desiree E Morgan
OBJECTIVE: The purpose of this study was to assess the diagnostic accuracy of effective atomic number maps reconstructed from dual-energy contrast-enhanced data for discriminating between nonenhancing renal cysts and enhancing masses. MATERIALS AND METHODS: Two hundred six patients (128 men, 78 women; mean age, 64 years) underwent a CT renal mass protocol (single-energy unenhanced and dual-energy contrast-enhanced nephrographic imaging) at two different hospitals...
July 13, 2017: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/28701518/effect-of-cytochrome-p450-metabolites-of-arachidonic-acid-in-nephrology
#5
Fan Fan, Richard J Roman
Thirty-five years ago, a third pathway for the metabolism of arachidonic acid by cytochrome P450 enzymes emerged. Subsequent work revealed that 20-hydroxyeicosatetraenoic and epoxyeicosatrienoic acids formed by these pathways have essential roles in the regulation of renal tubular and vascular function. Sequence variants in the genes that produce 20-hydroxyeicosatetraenoic acid are associated with hypertension in humans, whereas the evidence supporting a role for variants in the genes that alter levels of epoxyeicosatrienoic acids is less convincing...
July 12, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28701314/cux1-promotes-cell-proliferation-and-polycystic-kidney-disease-progression-in-an-adpkd-mouse-model
#6
Binu Porath, Safia Livingston, Erica L Andres, Alexandra M Petrie, Joshua C Wright, Anna E Woo, Carol G Carlton, Richard Baybutt, Gregory B Vanden Heuvel
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is one of the most common monogenic hereditary disorders in humans characterized by fluid-filled cysts, primarily in the kidneys. Cux1, a cell cycle regulatory gene highly expressed during kidney development, is elevated in the cyst-lining cells of Pkd1 mutant mice, and in human ADPKD cells. However, forced expression of Cux1 is insufficient to induce cystic disease in transgenic mice, or to induce rapid cyst formation after cilia disruption in the kidneys of adult mice...
July 12, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/28700992/natural-history-of-fetal-lower-urinary-tract-obstruction-with-normal-amniotic-fluid-volume-at-initial-diagnosis
#7
Mark P Johnson, Enrico Danzer, Jamie Koh, William Polzin, Chris Harman, Richard O'Shaughnessy, Richard Brown, Michael V Zaretsky
OBJECTIVE: The aim of this study was to define the natural history of lower urinary tract obstruction (LUTO) with normal midgestational amniotic fluid volumes. MATERIALS AND METHODS: We performed a retrospective review of 32 consecutive patients with LUTO with normal midgestational amniotic fluid volume followed at 11 North American Fetal Therapy Network (NAFTNet) centers from August 2007 to May 2012. Normal amniotic fluid volume was defined as an amniotic fluid index (AFI) of ≥9 cm...
July 13, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28700179/-clinical-manifestations-and-therapeutic-perspectives-in-tuberous-sclerosis-a-rare-multi-organ-genetic-disease-with-renal-involvement
#8
Giorgia Apollonia Caloro, Marta Spinelli, Nicla Campobasso, Tommaso Esposito, Loreto Gesualdo, Vincenzo Montinaro
Tuberous sclerosis is a rare genetic disease with multiple organ involvement. Renal involvement is manifested by the presence of angiomyolipomas and cysts. Angiomyolipomas due to the progressive increase in size over time can complicate by bleeding that can lead to severe retroperitoneal hemorrhages. Hence, it is important to perform an active surveillance of the masses and to institute therapeutic attempts in order to manage or prevent any complication. We present three clinical cases of three women with various clinical presentations and treated in different ways...
June 2017: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/28695430/birt-hogg-dub%C3%A3-syndrome-a-review-of-dermatological-manifestations-and-other-symptoms
#9
REVIEW
Yun Tong, Jeremy A Schneider, Alvin B Coda, Tissa R Hata, Philip R Cohen
Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant genodermatosis with malignant potential characterized by cutaneous and extracutaneous stigmata. Aberrations in the folliculin (FLCN) gene, which is located on chromosome 17, have been discovered in individuals with this condition. Over 150 unique mutations have been identified in BHD. The skin lesions associated with this condition include fibrofolliculomas, trichodiscomas, perifollicular fibromas, and acrochordons. Extracutaneous features of the syndrome typically include the lung (spontaneous pneumothorax and cysts) and the kidney (neoplasms)...
July 10, 2017: American Journal of Clinical Dermatology
https://www.readbyqxmd.com/read/28690286/a-case-of-recurrent-pneumothorax-associated-with-birt-hogg-dub%C3%A3-syndrome-treated-with-bilateral-simultaneous-surgery-and-total-pleural-covering
#10
Kyoshiro Takegahara, Naoyuki Yoshino, Jitsuo Usuda
Birt-Hogg-Dubé syndrome is an autosomal dominant genetic disorder characterized by a triad of skin tumors, renal tumors, and multiple pulmonary cysts. Our patient was a 40-year-old man with a history of recurrent bilateral pneumothorax and a family history of pneumothorax. The patient visited our department with chest pain and was diagnosed with left pneumothorax based on a chest X-ray. Thoracic computed tomography (CT) showed multiple cysts in both lungs. We performed thoracoscopic bilateral bullectomy with curative intent...
July 10, 2017: Annals of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28687266/not-your-typical-renal-cyst
#11
Yaolin Zhou, Shi Wei
No abstract text is available yet for this article.
July 4, 2017: American Journal of Medicine
https://www.readbyqxmd.com/read/28682033/-adpkd-and-heart
#12
Francesca Liut, Claudia Izzi, Nadia Dallera, Francesco Scolari
Autosomal Polycystic Kidney Disease ( ADPKD) is the most common inherited renal disease. ADPKD is caused by mutations in PKD1 and PKD2, encoding polycystin 1 and 2, respectively. ADPKD is a systemic disease, with renal and extrarenal involvement. Renal disease is characterized by formation and growth of cysts, with progressive destruction of renal parenchyma and development of End Stage Renal Disease (ESRD) in about 50% of affected individuals at the age of 60 years. Extrarenal disease usually involves the liver, heart and vasculature...
March 2017: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/28680642/long-lasting-response-to-oral-therapy-in-a-young-male-with-monogenic-diabetes-as-part-of-hnf1b-related-disease
#13
Elena Carrillo, Amparo Lomas, Pedro J Pinés, Cristina Lamas
Mutations in hepatocyte nuclear factor 1β gene (HNF1B) are responsible for a multisystemic syndrome where monogenic diabetes (classically known as MODY 5) and renal anomalies, mostly cysts, are the most characteristic findings. Urogenital malformations, altered liver function tests, hypomagnesemia or hyperuricemia and gout are also part of the syndrome. Diabetes in these patients usually requires early insulinization. We present the case of a young non-obese male patient with a personal history of renal multicystic dysplasia and a debut of diabetes during adolescence with simple hyperglycemia, negative pancreatic autoimmunity and detectable C-peptide levels...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28678573/is-ultrasound-useful-for-further-evaluation-of-homogeneously-hyperattenuating-renal-lesions-detected-on-ct
#14
Mahadevaswamy Siddaiah, Satheesh Krishna, Matthew D F McInnes, Jeffrey S Quon, Wael M Shabana, Demetri Papadatos, Nicola Schieda
OBJECTIVE: The purpose of this study was to evaluate the ability of ultrasound (US) to characterize hyperattenuating cysts detected as indeterminate hyperattenuating renal lesions on unenhanced and single phase enhanced CT. MATERIALS AND METHODS: A total of 107 consecutive homogeneously hyperattenuating renal lesions underwent gray-scale and Doppler US at our institution between 2010 and 2013. Two radiologists who were unaware of the final diagnosis retrospectively evaluated US images for visibility and diagnosis (simple cyst, intermediate complexity cyst, cystic or solid mass showing internal flow on Doppler US, or indeterminate)...
July 5, 2017: AJR. American Journal of Roentgenology
https://www.readbyqxmd.com/read/28670253/renal-involvement-in-leprosy-evaluation-of-patients-in-turkey
#15
Savas Ozturk, Tulin Ozturk, Ilkay Can
INTRODUCTION: Renal involvement in leprosy has previously been described in the literature and can include amyloidosis, glomerulonephritis, nephrosclerosis, tubulointerstitial nephritis, and granulomas. AIM: To evaluate renal involvement in Turkish patients with leprosy. MATERIAL AND METHODS: In total, 32 patients with lepromatous leprosy but without any co-morbidities and 35 healthy control subjects were evaluated for renal involvement at the Elazig Training and Research Hospital in Turkey...
June 2017: Postȩpy Dermatologii i Alergologii
https://www.readbyqxmd.com/read/28666097/novel-transgenic-mouse-model-of-polycystic-kidney-disease
#16
Yusuke Kito, Chiemi Saigo, Tamotsu Takeuchi
Transmembrane protein 207 (TMEM207) is characterized as an important molecule for invasiveness of gastric signet-ring cell carcinoma cells. To clarify the pathobiological effects of TMEM207, we generated 13 transgenic mouse strains, designated C57BL/6-transgenic (Tg) (ITF-TMEM207), where the mouse Tmem207 is ectopically expressed under the proximal promoter of the murine intestinal trefoil factor gene. A C57BL/6-Tg (ITF-TMEM207) mouse strain unexpectedly exhibited a high incidence of spontaneous kidney cysts with histopathological features resembling human polycystic kidney disease, which were found in approximately all mice within 1 year...
June 27, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28664236/alterations-in-biomechanical-properties-of-the-cornea-among-patients-with-polycystic-kidney-disease
#17
Kubra Serefoglu Cabuk, Bennur Esen, Kursat Atalay, Ahmet Kirgiz, Rukiye Aydin
PURPOSE: The aim of this study was to evaluate the corneal biomechanical features in polycystic kidney disease (PKD) patients and compare them with the healthy individuals. METHODS: Totally 81 patients with a mean age of 48.46 ± 14.51 years and 60 control cases with a mean age of 44.68 ± 12.69 years were included in the study. All of the subjects underwent a complete ophthalmological examination, including visual acuity testing, biomicroscopic anterior and posterior segment examinations...
June 29, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28663537/algorithm-for-bosniak-2f-cyst-in-kidney-donation
#18
Robert C Minnee, Hendrikus J A N Kimenai, Paul C Verhagen, Jan H von der Thüsen, Roy S Dwarkasing, Jacqueline van de Wetering, Jan N IJzermans
BACKGROUND The Bosniak system for radiological classification of renal cysts offers a tool for surgical decision-making in clinical practice. Although 95% of Bosniak 2F cysts remain benign, a consensus on the management of Bosniak 2F cysts in kidney donation has not been developed. CASE REPORT We present a donor with a Bosniak 2F cyst, who successfully donated her kidney after partial resection of the Bosniak 2F cyst. Postoperative pathology examination of the partially resected cystic wall revealed a multilocular cystic renal cell carcinoma...
June 30, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28658845/large-multicystic-dysplastic-kidney-mimicking-a-large-cystic-renal-neoplasm
#19
Priyank Yadav, Sanjoy Kumar Sureka, M S Ansari, Rahul Soni, Hira Lal
Multicystic Dysplastic Kidney (MCDK) is one of the most common renal conditions seen in paediatric population. The natural history typically involves involution and many of the patients with unilateral disease may actually never become symptomatic. The initial evaluation is usually done on Ultrasonography (USG) while cross-sectional imaging and nuclear scan are reserved for diagnostic dilemmas. Management is conservative and surgery is done for selected patients with symptomatic cysts or suspicion of neoplasm...
May 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28656962/negative-regulation-of-egfr-signalling-by-the-human-folliculin-tumour-suppressor-protein
#20
Laura A Laviolette, Julien Mermoud, Isabel A Calvo, Nicholas Olson, Myriam Boukhali, Ortrud K Steinlein, Elisabeth Roider, Elke C Sattler, Dachuan Huang, Bin Tean Teh, Mo Motamedi, Wilhelm Haas, Othon Iliopoulos
Germline mutations in the Folliculin (FLCN) tumour suppressor gene result in fibrofolliculomas, lung cysts and renal cancers, but the precise mechanisms of tumour suppression by FLCN remain elusive. Here we identify Rab7A, a small GTPase important for endocytic trafficking, as a novel FLCN interacting protein and demonstrate that FLCN acts as a Rab7A GTPase-activating protein. FLCN(-/-) cells display slower trafficking of epidermal growth factor receptors (EGFR) from early to late endosomes and enhanced activation of EGFR signalling upon ligand stimulation...
June 28, 2017: Nature Communications
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