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https://www.readbyqxmd.com/read/28522687/integrin-linked-kinase-signaling-promotes-cyst-growth-and-fibrosis-in-polycystic-kidney-disease
#1
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/28509130/acute-pulmonary-thromboembolism-occurring-during-treatment-with-tolvaptan-in-a-patient-with-autosomal-dominant-polycystic-kidney-disease
#2
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
#3
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/28493804/hereditary-renal-cystic-disorders-imaging-of-the-kidneys-and-beyond
#4
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/28486600/sclt1-deficiency-causes-cystic-kidney-by-activating-erk-and-stat3-signaling
#5
Jianshuang Li, Di Lu, Huadie Liu, Bart O Williams, Paul A Overbeek, Brendan Lee, Ling Zheng, Tao Yang
Ciliopathies form a group of inherited disorders sharing several clinical manifestations due to abnormal cilia formation or function, and few treatments have been successful against these disorders. Here, we report a mouse model with mutated Sclt1 gene, which encodes a centriole distal appendage protein important for ciliogenesis. SCLT1 mutations were associated with the oral-facial-digital syndrome (OFD), an autosomal recessive ciliopathy. The Sclt1-/- mice exhibit typical ciliopathy phenotypes, including cystic kidney, cleft palate, and polydactyly...
May 9, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28484847/genetic-kidney-diseases-caenorhabditis-elegans-as-model-system
#6
REVIEW
Athina Ganner, Elke Neumann-Haefelin
Despite its apparent simplicity, the nematode Caenorhabditis elegans has a high rating as a model in molecular and developmental biology and biomedical research. C. elegans has no excretory system comparable with the mammalian kidney but many of the genes and molecular pathways involved in human kidney diseases are conserved in C. elegans. The plethora of genetic, molecular and imaging tools available in C. elegans has enabled major discoveries in renal research and advanced our understanding of the pathogenesis of genetic kidney diseases...
May 8, 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28479239/renal-mass-and-localized-renal-cancer-aua-guideline
#7
Steven Campbell, Robert G Uzzo, Mohamad E Allaf, Eric B Bass, Jeffrey A Cadeddu, Anthony Chang, Peter E Clark, Brian J Davis, Ithaar H Derweesh, Leo Giambarresi, Debra A Gervais, Susie L Hu, Brian R Lane, Bradley C Leibovich, Philip M Pierorazio
PURPOSE: This AUA Guideline focuses on evaluation/counseling and management of adult patients with clinically-localized renal masses suspicious for cancer, including solid-enhancing tumors and Bosniak 3/4 complex-cystic lesions. MATERIALS/METHODS: Systematic review utilized research from the Agency for Healthcare Research and Quality (AHRQ) and additional supplementation by the authors and consultant methodologists. Evidence-based statements were based on body of evidence strength Grade A/B/C (Strong/Moderate/Conditional Recommendations, respectively) with additional statements presented as Clinical Principles or Expert Opinions...
May 4, 2017: Journal of Urology
https://www.readbyqxmd.com/read/28476889/structure-of-the-human-aminopeptidase-xpnpep3-and-comparison-of-its-in-vitro-activity-with-icp55-orthologs-insights-into-diverse-cellular-processes
#8
Rahul Singh, Sahayog N Jamdar, Venuka Durani Goyal, Ashwani Kumar, Biplab Ghosh, Ravindra D Makde
The human aminopeptidase XPNPEP3 is associated with cystic-kidney disease and TNF-TNFR2 cellular signaling. Its yeast and plant homolog Icp55 processes several imported mitochondrial matrix proteins leading to their stabilization. However, the molecular basis for the diverse roles of these enzymes in the cell is unknown. Here, we report the crystal structure of human XPNPEP3 with bound apstatin product at 1.65 Å resolution and compare its in-vitro substrate specificity with those of fungal Icp55 enzymes. In contrast to the suggestions by earlier in-vivo studies of mitochondrial processing, we found that these enzymes are genuine Xaa-Pro aminopeptidases, which hydrolyze peptides with proline at the second position (P1')...
May 5, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28473970/emerging-therapies-for-childhood-polycystic-kidney-disease
#9
REVIEW
William E Sweeney, Ellis D Avner
Cystic kidney diseases comprise a varied collection of hereditary disorders, where renal cysts comprise a major element of their pleiotropic phenotype. In pediatric patients, the term polycystic kidney disease (PKD) commonly refers to two specific hereditary diseases, autosomal recessive polycystic kidney disease (ARPKD) and autosomal dominant polycystic kidney disease (ADPKD). Remarkable progress has been made in understanding the complex molecular and cellular mechanisms of renal cyst formation in ARPKD and ADPKD...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28470573/bsnd-is-a-novel-immunohistochemical-marker-for-oncocytic-salivary-gland-tumors
#10
Kazuya Shinmura, Hisami Kato, Yuichi Kawanishi, Takaharu Kamo, Yusuke Inoue, Katsuhiro Yoshimura, Kenta Sugiyama, Kiyoshi Misawa, Seiji Hosokawa, Hiroyuki Mineta, Haruhiko Sugimura
BSND protein, which is involved in chloride transport, is expressed in normal kidney and the inner ear and is known as an immunohistochemical marker for chromophobe renal cell carcinoma (RCC) and renal oncocytoma; however, other organs and tumor types exhibiting BSND expression have not yet been reported. In this study, we investigated the expression of BSND using data from the Cancer Genome Atlas (TCGA) database and by performing immunohistochemical analyses. As a result, we found that BSND was also expressed in the striated duct cells of normal salivary glands...
May 3, 2017: Pathology Oncology Research: POR
https://www.readbyqxmd.com/read/28469737/usefulness-of-apparent-diffusion-coefficient-of-diffusion-weighted-imaging-for-differential-diagnosis-of-primary-solid-and-cystic-renal-masses
#11
Mehmet Öztürk, Afra Ekinci, Şenol Fatih Elbir, Aylin Okur, Serap Doğan, Ökkeş Ibrahim Karahan
BACKGROUND: To evaluate the value of diffusion-weighted imaging (DWI) for distinguishing between benign and malignant renal masses. MATERIAL/METHODS: Seventy-five patients with 75 unilateral renal lesions were included, and 75 normal contralateral kidneys served as controls. The lesions were categorized into four groups as malignant cystic, malignant solid, benign cystic and benign solid. The apparent diffusion coefficients (ADCs) were evaluated for two different b values (b=600 s/mm(2) and b=1000 s/mm(2))...
2017: Polish Journal of Radiology
https://www.readbyqxmd.com/read/28466073/completely-isolated-retroperitoneal-enteric-duplication-cyst-with-adenocarcinoma-transformation-managed-with-robotic-radical-nephrectomy
#12
Kassem Faraj, Luke Edwards, Alia Gupta, Brian Seifman
Background: Enteric duplication cysts are congenital malformations that typically affect children in infancy, but can also affect adults. Rarely, these cysts can be complicated by malignancy. We present the first case of retroperitoneal duplication cyst that was complicated by malignancy transformation and managed by robot-assisted excision. Case presentation: A 64-year-old female with a history of a left-sided renal cyst presented with a 4-month history of abdominal pain and fatigue. MRI revealed a bilobed cyst, with components measuring 6...
2017: Journal of Endourology Case Reports
https://www.readbyqxmd.com/read/28462160/giant-hydronephrotic-kidney-masquerading-as-urinoma-a-rare-presentation-with-review-of-literature
#13
Ashok Kumar Sokhal, Manav Agrawal, Durgesh Kumar Saini, Kawaljit Singh, Ashok Kumar Gupta, Satyanarayan Sankhwar, Bhupendra Pal Singh
Giant hydronephrosis (GH) is a condition in which pelvicalyceal system contains more than 1000 ml of urine. Common causes of GH are uretero-pelvic junction obstruction, renal calculus, abdominal trauma. We are reporting a case of 45 years' male, who presented with abdominal trauma and haematuria and was suspected a urinoma secondary to renal trauma. Examination revealed soft, cystic abdominal lump. Computed tomography of the abdomen revealed grossly hydronephrotic right kidney. The patient was managed by pyeloplasty after renal scan (estimated plasma renal flow- 91...
July 2017: Urology Case Reports
https://www.readbyqxmd.com/read/28458790/renal-cancer-in-recipients-of-kidney-transplant
#14
REVIEW
Prajwal Dhakal, Smith Giri, Krishmita Siwakoti, Supratik Rayamajhi, Vijaya Raj Bhatt
The aim of our study is to determine characteristics and outcomes of kidney cancer in renal transplant recipients. MEDLINE® database was searched in June 2015 to identify cases of kidney cancer in renal transplant recipients. We include also a new case. Descriptive statistics were used for analysis. Forty-eight (48) recipients reported in 25 papers met the eligibility criteria. The median age was 47 years (range 9-66); 27% were females. Chronic glomerulonephritis, cystic kidney disease and hypertension were common indications for renal transplant...
March 24, 2017: Rare Tumors
https://www.readbyqxmd.com/read/28455745/expanding-the-role-of-vasopressin-antagonism-in-polycystic-kidney-diseases-from-adults-to-children
#15
Peter Janssens, Caroline Weydert, Stephanie De Rechter, Karl Martin Wissing, Max Christoph Liebau, Djalila Mekahli
Polycystic kidney disease (PKD) encompasses a group of genetic disorders that are common causes of renal failure. The two classic forms of PKD are autosomal recessive polycystic kidney disease (ARPKD) and autosomal dominant polycystic kidney disease (ADPKD). Despite their clinical differences, ARPKD and ADPKD share many similarities. Altered intracellular Ca(2+) and increased cyclic adenosine monophosphate (cAMP) concentrations have repetitively been described as central anomalies that may alter signaling pathways leading to cyst formation...
April 28, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28450740/the-centrosomal-ofd1-protein-interacts-with-the-translation-machinery-and-regulates-the-synthesis-of-specific-targets
#16
Daniela Iaconis, Maria Monti, Mario Renda, Arianne van Koppen, Roberta Tammaro, Marco Chiaravalli, Flora Cozzolino, Paola Pignata, Claudia Crina, Piero Pucci, Alessandra Boletta, Vincenzo Belcastro, Rachel H Giles, Enrico Maria Surace, Simone Gallo, Mario Pende, Brunella Franco
Protein synthesis is traditionally associated with specific cytoplasmic compartments. We now show that OFD1, a centrosomal/basal body protein, interacts with components of the Preinitiation complex of translation (PIC) and of the eukaryotic Initiation Factor (eIF)4F complex and modulates the translation of specific mRNA targets in the kidney. We demonstrate that OFD1 cooperates with the mRNA binding protein Bicc1 to functionally control the protein synthesis machinery at the centrosome where also the PIC and eIF4F components were shown to localize in mammalian cells...
April 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28444445/acquired-cystic-kidney-disease-an-under-recognized-condition-in-children-with-end-stage-renal-disease
#17
Eugene Y H Chan, Bradley A Warady
Acquired cystic kidney disease (ACKD) is a condition that occurs predominantly in patients with end-stage renal disease (ESRD). In contrast to hereditary cystic kidney disease, ACKD is characterized by the presence of multiple small cysts in bilaterally small kidneys. Limited pediatric data suggest a high incidence (21.6-45.8%) of ACKD in children on dialysis, comparable to that in adults, with an increased frequency associated with a longer duration of dialysis. Recent research has shed light on the pathogenesis of ACKD, such as activation of proto-oncogenes...
April 25, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28440913/piperacillin-tazobactam-versus-cefepime-incidence-of-acute-kidney-injury-in-combination-with-vancomycin-and-tobramycin-in-pediatric-cystic-fibrosis-patients
#18
Lisa K LeCleir, Rebecca S Pettit
BACKGROUND: Cystic fibrosis (CF) patients often receive prolonged courses of broad spectrum antibiotics, such as piperacillin-tazobactam or cefepime in combination with vancomycin and tobramycin. The objective of this study was to determine the difference in AKI for pediatric CF patients receiving piperacillin-tazobactam or cefepime in combination with vancomycin and tobramycin. METHODS: IRB approval from a single CF center was obtained for this retrospective cohort study...
April 25, 2017: Pediatric Pulmonology
https://www.readbyqxmd.com/read/28432469/renal-findings-in-patients-with-mulibrey-nanism
#19
Johanna Sivunen, Susann Karlberg, Jouko Lohi, Niklas Karlberg, Marita Lipsanen-Nyman, Hannu Jalanko
BACKGROUND: Mulibrey nanism (MUL) is a rare inherited disease caused by genetic defects affecting peroxisomal TRIM37 protein. MUL affects multiple organs, leading to growth retardation and early onset type 2 diabetes. We aimed to characterize the structure and function of kidneys and the urinary tract in a large cohort of Finnish MUL patients. METHODS: Ultrasound, magnetic resonance imaging (MRI), and autopsy findings of the kidneys and urinary tract from 101 MUL patients were retrospectively analyzed...
April 22, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28417852/nuclear-medicine-in-pediatric-nephro-urology-an-overview
#20
REVIEW
Iosif Mendichovszky, Bernardita Troncoso Solar, Naima Smeulders, Marina Easty, Lorenzo Biassoni
In the context of ante-natally diagnosed hydronephrosis, the vast majority of children with a dilated renal pelvis do not need any surgical treatment, as the dilatation resolves spontaneously with time. Slow drainage demonstrated at Tc-99m-mercaptoacetyltriglycine (MAG3) renography does not necessarily mean obstruction. Obstruction is defined as resistance to urinary outflow with urinary stasis at the level of the pelvic-ureteric junction (PUJ) which, if left untreated, will damage the kidney. Unfortunately this definition is retrospective and not clinically helpful...
May 2017: Seminars in Nuclear Medicine
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