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https://www.readbyqxmd.com/read/29778031/liver-resection-for-metastases-of-tracheal-adenoid-cystic-carcinoma-report-of-two-cases
#1
Shintaro Hashimoto, Yorihisa Sumida, Shuichi Tobinaga, Hideo Wada, Kouki Wakata, Takashi Nonaka, Masaki Kunizaki, Shigekazu Hidaka, Naoe Kinoshita, Terumitsu Sawai, Takeshi Nagayasu
INTRODUCTION: Tracheal adenoid cystic carcinoma (ACC) is rare and accounts for <1% of all lung cancers. Although ACC is classified as a low-grade tumor, metastases are frequently identified in the late period. Extrapulmonary metastases are rare, and their resection has rarely been reported. PRESENTATION OF CASE: Case 1: A 77-year-old man underwent tracheal resection for ACC with postoperative radiation (60 Gy) 14 years before (at the age of 63). He underwent two subsequent pulmonary resections for metastases...
May 16, 2018: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29770853/predominantly-cystic-clear-cell-renal-cell-carcinoma-and-multilocular-cystic-renal-neoplasm-of-low-malignant-potential-form-a-low-grade-spectrum
#2
Maria Tretiakova, Vikas Mehta, Masha Kocherginsky, Agata Minor, Steven S Shen, Sahussapont Joseph Sirintrapun, Jorge L Yao, Isabel Alvarado-Cabrero, Tatjana Antic, Scott E Eggener, Maria M Picken, Gladell P Paner
Multilocular cystic renal cell carcinoma has been recently excluded from clear cell renal cell carcinoma (CCRCC) category and re-designated as multilocular cystic renal neoplasm of low malignant potential (MCRNLMP) due to its uniformly good outcomes. While strict distinction between MCRNLMP from predominantly cystic CCRCC (pc-CCRCC) is being emphasized, the significance of extensive true cystic component in CCRCC has not been investigated. Herein, we analyzed 57 MCRNLMP, 69 pc-CCRCC, and 46 non-cystic CCRCC...
May 17, 2018: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/29768287/ultrasound-computed-tomography-and-magnetic-resonance-imaging-in-a-patient-with-medullary-cystic-kidney-disease
#3
Gilbert Whang, Hisham Tchelepi
Among the renal cystic diseases that result in end-stage renal disease, an important hereditary cause is medullary cystic kidney disease, which affects adults in an autosomal dominant pattern. It is characterized by progressive renal failure, tubulointerstitial fibrosis, and formation of small cysts in the renal medulla and corticomedullary junction. While the appearance of medullary/corticomedullary cysts may not be pathognomonic for medullary cystic kidney disease, encountering a patient with renal failure and medullary/corticomedullary cysts should prompt further investigation, given the implication of having the disease...
May 15, 2018: Ultrasound Quarterly
https://www.readbyqxmd.com/read/29767557/polycystin-1-dysfunction-impairs-electrolyte-and-water-handling-in-a-renal-pre-cystic-mouse-model-for-adpkd
#4
Eric H J Verschuren, Sami G Mohammed, Wouter N Leonhard, Caro Overmars-Bos, Kimberly A M Veraar, Joost G J Hoenderop, René J M Bindels, Dorien J M Peters, Francisco J Arjona
The PKD1 gene encodes polycystin-1 (PC1), a mechanosensor triggering intracellular responses upon urinary flow sensing in kidney tubular cells. Mutations in PKD1 lead to autosomal dominant polycystic kidney disease (ADPKD). The involvement of PC1 in renal electrolyte handling remains unknown since renal electrolyte physiology in ADPKD patients has only been characterized in cystic ADPKD. We thus studied the renal electrolyte handling in inducible kidney-specific Pkd1 knockout (iKsp-Pkd1-/-) mice manifesting a pre-cystic phenotype...
May 16, 2018: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/29764427/col4a5-and-lama5-variants-co-inherited-in-familial-hematuria-digenic-inheritance-or-genetic-modifier-effect
#5
Konstantinos Voskarides, Gregory Papagregoriou, Despina Hadjipanagi, Ioanelli Petrou, Isavella Savva, Avraam Elia, Yiannis Athanasiou, Androulla Pastelli, Maria Kkolou, Michalis Hadjigavriel, Christoforos Stavrou, Alkis Pierides, Constantinos Deltas
BACKGROUND: About 40-50% of patients with familial microscopic hematuria (FMH) caused by thin basement membrane nephropathy (TBMN) inherit heterozygous mutations in collagen IV genes (COL4A3, COL4A4). On long follow-up, the full phenotypic spectrum of these patients varies a lot, ranging from isolated MH or MH plus low-grade proteinuria to chronic renal failure of variable degree, including end-stage renal disease (ESRD). METHODS: Here, we performed Whole Exome Sequencing (WES) in patients of six families, presenting with autosomal dominant FMH, with or without progression to proteinuria and loss of renal function, all previously found negative for severe collagen IV mutations...
May 16, 2018: BMC Nephrology
https://www.readbyqxmd.com/read/29746870/in-vitro-and-in-vivo-efficacies-of-carbazole-aminoalcohols-in-the-treatment-of-alveolar-echinococcosis
#6
Zhisheng Dang, Shuo Xu, Haobing Zhang, Weifeng Gui, Yumin Zhao, Liping Duan, Wei Hu
Benzimidazoles, including albendazole and mebendazole, are the major drugs for clinical chemotherapy of echinococcosis. They mainly exert parasitostatic effects depending on high dosages for long-term. Previous studies have identified carbazole aminoalcohols as novel anti-CE (cystic echinococcosis) agents. However, it is still to be confirmed whether it is effective on alveolar echinococcosis (AE) or not. In the present study, efficacies of novel carbazole aminoalcohols, propylamine, R-propylamine and S-propylamine were evaluated under in vitro and in vivo conditions...
May 7, 2018: Acta Tropica
https://www.readbyqxmd.com/read/29746821/lansoprazole-reduces-renal-cyst-in-polycystic-kidney-disease-via-inhibition-of-cell-proliferation-and-fluid-secretion
#7
Jiriporn Nantavishit, Varanuj Chatsudthipong, Sunhapas Soodvilai
Renal cyst development and expansion in autosomal dominant polycystic kidney disease (ADPKD) is mediated by abnormal cyst-ling cell proliferation and fluid accumulation. Liver X receptor (LXR)-activating ligands suppresses renal cyst enlargement by modulation of cysticfibrosis transmembrane conductance regulator (CFTR)-mediated fluid accumulation. Lansoprazole has been reported as agonist of LXR, and shows an anti-proliferative effect in cancer cells. Here, lansoprazole's pharmacological effect and underlying mechanism on renal cyst development and expansion in in vitro; human ADPKD cyst-lining epithelial cell line and Type I Mardin Darby Canine Kidney (MDCK) cells, and in vivo models was investigated...
May 7, 2018: Biochemical Pharmacology
https://www.readbyqxmd.com/read/29734148/new-insights-into-cystic-kidney-diseases
#8
Toshio Mochizuki, Shiho Makabe, Yumi Aoyama, Hiroshi Kataoka, Kosaku Nitta
Hereditary cystic kidney diseases are considered as "ciliopathies" caused by abnormalities of the "primary cilia" situated on the tubules. As a result of dysplasia and dysfunction of cilia, formation of cysts occurs at various stages of life. Although occurring at a low incidence, hereditary cystic kidney diseases that develop from the fetal stage to childhood are diverse and are often associated with systemic disorders. The incidence of autosomal dominant polycystic kidney disease, which is the only adult-onset hereditary cystic kidney disease, is the highest among hereditary renal disorders...
2018: Contributions to Nephrology
https://www.readbyqxmd.com/read/29730837/contemporary-assessment-of-the-correlation-between-bosniak-classification-and-histological-characteristics-of-surgically-removed-atypical-renal-cysts-uroccr-12-study
#9
François-Xavier Nouhaud, Jean-Christophe Bernhard, Pierre Bigot, Zine-Eddine Khene, François Audenet, Herve Lang, Sebastien Bergerat, Guillaume Fraisse, Nicolas Grenier, François Cornelis, Cosmina Nedelcu, Sofiane Béjar, Gaëlle Fromont-Hankard, Yves Allory, Véronique Lindner, Virginie Verkarre, Laurent Daniel, Mokrane Yacoub, Jean-Michel Correas, Arnaud Méjean, Nathalie Rioux-Leclercq, Karim Bensalah
PURPOSE: To evaluate and compare pathological characteristics of renal cysts Bosniak IIF, III and IV in light of recent histological classification. PATIENTS AND METHODS: The French research network for kidney cancer UroCCR conducted a multicentre study on patients treated surgically for a renal cyst between 2007 and 2016. Independent radiological and centralized pathological reviews were performed for every patient. Pathological characteristics were compared to the Bosniak classification...
May 5, 2018: World Journal of Urology
https://www.readbyqxmd.com/read/29717938/comparison-of-folate-conjugated-rapamycin-versus-unconjugated-rapamycin-in-an-orthologous-mouse-model-of-polycystic-kidney-disease
#10
Kevin R Kipp, Samantha L Kruger, Margaret F Schimmel, Nikki Parker, Jonathan M Shillingford, Christopher P Leamon, Thomas Weimbs
Autosomal-dominant polycystic kidney disease (ADPKD) is a very common genetic disease leading to renal failure. Numerous aberrantly regulated signaling pathways have been identified as promising molecular drug targets for ADPKD therapy. In rodent models, many small-molecule drugs against such targets have proven effective in reducing renal cyst growth. For example, mTOR inhibition with rapamycin greatly ameliorates renal cystic disease in several rodent models. However, clinical trials with mTOR inhibitors were disappointing largely due to the intolerable extra-renal side effects during long-term treatment with these drugs...
May 2, 2018: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/29717526/nephronophthisis-a-review-of-genotype-phenotype-correlation
#11
REVIEW
Fenglan Luo, Yuhong Tao
Nephronophthisis is an autosomal recessive cystic kidney disease and one of the most common genetic disorders causing end-stage renal disease in children. Nephronophthisis is a genetically heterogenous disorder with more than 25 identified genes. In 10%-20% of cases, there are additional features of a ciliopathy syndrome, such as retinal defects, liver fibrosis, skeletal abnormalities, and brain developmental disorders. This review provides an update of the recent advances in the clinical features and related gene mutations of nephronophthisis, and novel approaches for therapy in nephronophthisis patients may be needed...
May 1, 2018: Nephrology
https://www.readbyqxmd.com/read/29716997/long-noncoding-rna-hoxb3os-is-dysregulated-in-autosomal-dominant-polycystic-kidney-disease-and-regulates-mtor-signaling
#12
Karam Aboudehen, Shayan Farahani, Mohammed Kanchwala, Siu Chiu Chan, Svetlana Avdulov, Alan Mickelson, Dayeon Lee, Micah D Gearhart, Vishal Patel, Chao Xing, Peter Igarashi
Autosomal dominant polycystic kidney disease (ADPKD) is a debilitating disease that is characterized by the accumulation of numerous fluid-filled cysts in the kidney. ADPKD is primarily caused by mutations in two genes, PKD1 and PKD2. Long noncoding RNAs (lncRNA) - defined by a length >200 nucleotides and absence of a long open reading frame - have recently emerged as epigenetic regulators of development and disease; however, their involvement in PKD has not been explored previously. Here, we performed deep RNA sequencing to identify lncRNAs that are dysregulated in two orthologous mouse models of ADPKD (kidney-specific Pkd1 and Pkd2 mutant mice)...
May 1, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29706453/calyceal-diverticula-in-children-imaging-findings-and-presentations
#13
Y Ochoa Santiago, C Sangüesa Nebot, S Picó Aliaga, A Serrano Durbá, P Ortega López
A calyceal diverticulum consists of a cystic eventration in the renal parenchyma that is lined with transitional cell epithelium with a narrow infundibular connection with the calyces or pelvis of the renal collector system; thus, the term pyelocalyceal diverticulum would be more accurate. Very rare in pediatric patients, calyceal diverticula can be symptomatic and require treatment. Calyceal diverticula are underdiagnosed because they can be mistaken for simple renal cysts on ultrasonography. To determine the approach to their follow-up and management, the diagnosis must be confirmed by excretory-phase computed tomography (CT) or magnetic resonance imaging (MRI)...
April 26, 2018: Radiología
https://www.readbyqxmd.com/read/29706351/monoallelic-mutations-to-dnajb11-cause-atypical-autosomal-dominant-polycystic-kidney-disease
#14
Emilie Cornec-Le Gall, Rory J Olson, Whitney Besse, Christina M Heyer, Vladimir G Gainullin, Jessica M Smith, Marie-Pierre Audrézet, Katharina Hopp, Binu Porath, Beili Shi, Saurabh Baheti, Sarah R Senum, Jennifer Arroyo, Charles D Madsen, Claude Férec, Dominique Joly, François Jouret, Oussamah Fikri-Benbrahim, Christophe Charasse, Jean-Marie Coulibaly, Alan S Yu, Korosh Khalili, York Pei, Stefan Somlo, Yannick Le Meur, Vicente E Torres, Peter C Harris
Autosomal-dominant polycystic kidney disease (ADPKD) is characterized by the progressive development of kidney cysts, often resulting in end-stage renal disease (ESRD). This disorder is genetically heterogeneous with ∼7% of families genetically unresolved. We performed whole-exome sequencing (WES) in two multiplex ADPKD-like pedigrees, and we analyzed a further 591 genetically unresolved, phenotypically similar families by targeted next-generation sequencing of 65 candidate genes. WES identified a DNAJB11 missense variant (p...
May 3, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29695797/a-biallelic-36-bp-insertion-in-pibf1-is-associated-with-joubert-syndrome
#15
Malavika Hebbar, Anil Kanthi, Anju Shukla, Stephanie Bielas, Katta M Girisha
Biallelic pathogenic variants in PIBF1 have been identified as one of the genetic etiologies of Joubert syndrome. We report a two-year-old girl with global developmental delay, facial dysmorphism, hypotonia, enlarged cystic kidneys, molar tooth sign, and thinning of corpus callosum. A novel homozygous 36-bp insertion in PIBF1 (c.1181_1182ins36) was identified by exome sequencing as the likely cause of her condition. This is the second publication demonstrating the cause and effect relationship between PIBF1 and Joubert syndrome...
April 25, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29691619/quantitative-multiparametric-mr-analysis-of-small-renal-lesions-correlation-with-surgical-pathology
#16
Motoyo Yano, Kathryn J Fowler, Santip Srisuwan, Amber Salter, Cary L Siegel
PURPOSE: The purpose of the study is to evaluate the utility of apparent diffusion coefficient (ADC), chemical shift signal intensity index (SII), and contrast enhancement in distinguishing between benign lesions and renal cell carcinoma (RCC) and between subtypes of renal lesions. METHODS: This retrospective study included 98 renal lesions (≤ 3 cm) on MRI with correlative surgical pathology. Scanner field strength, lesion location, and size were recorded. Two readers blinded to surgical pathology independently measured ADC ratio (ADC lesion/ADC non-lesion kidney), SII, and absolute/relative enhancement in the corticomedullary and nephrographic phases of contrast...
April 24, 2018: Abdominal Radiology
https://www.readbyqxmd.com/read/29686834/limitations-of-ct-scanning-in-bosniak-staging-of-renal-cystic-carcinoma
#17
A S Wasim, F Mumtaz
The Bosniak Classification is used to quantify the risk of malignancy and need for observation or radical treatment based on the findings of computed tomography (CT). The case described is that of a 65-year-old man with renal cystic disease who was initially given a Bosniak stage IIF classification and was subsequently managed with CT surveillance. CT surveillance showed increased cyst size in the left kidney with cystic changes, however, the Bosniak classification remained the same. It was not until the patient deteriorated further that an MRI was indicated...
April 2018: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/29685496/are-pax-proteins-potential-therapeutic-targets-in-kidney-disease-and-cancer
#18
REVIEW
Edward Grimley, Gregory R Dressler
Pax genes encode developmental regulators that are expressed in a variety of tissues and control critical events in morphogenesis. In the kidney, Pax2 and Pax8 are expressed in embryonic development and in specific renal diseases associated with aberrant epithelial cell proliferation. Prior genetic and cell biological studies suggest that reducing the activity of Pax proteins in renal cancer or in polycystic kidney disease can slow the progression of these conditions. The Pax proteins may be critical for providing tissue and locus specificity to recruit epigenetic modifiers that control gene expression and chromatin structure...
April 20, 2018: Kidney International
https://www.readbyqxmd.com/read/29684175/aminoglycoside-exposure-and-renal-function-before-lung-transplantation-in-adult-cystic-fibrosis-patients
#19
Etienne Novel-Catin, Solenne Pelletier, Quitterie Reynaud, Raphaele Nove-Josserand, Stephane Durupt, Laurence Dubourg, Isabelle Durieu, Denis Fouque
Background: Patients with cystic fibrosis (CF) are at risk of kidney injury even before undergoing lung transplantation, because of prolonged exposure to aminoglycosides (AGs), chronic dehydration and complications of diabetes mellitus. The usual equations estimating the glomerular filtration rate (GFR), such as Cockcroft-Gault and Modification of Diet in Renal Disease, are not adapted to the CF population due to patients' low body weight and reduced muscle mass. The aim of this study was to precisely measure GFR in adult CF patients and to see whether repeated AG treatment would impair renal function before lung transplantation...
April 18, 2018: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/29676370/primary-primitive-neuroectodermal-tumor-of-the-kidney
#20
Sunil Vitthalrao Jagtap, Pradnya Pandurang Kale, Anil Huddedar, Atul Bhanudas Hulwan, Swati S Jagtap
Renal primitive neuroectodermal tumor (PNET) is a rare entity. It should be differentiated from other primary renal malignancies. The differentiation of the malignant small round cell tumors may be challenging; however, it is essential for better management of the patient. We report a 45-year-old male having complaints of pain in the abdomen, hematuria, and mass in the abdomen for 6 months. Abdominal and pelvic sonography finding showed cystic-solid, right renal mass suggestive of malignancy. On histopathology diagnosed as malignant small round blue cell tumor suggestive of primitive neuroectodermal tumor...
April 2018: Indian Journal of Pathology & Microbiology
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