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https://www.readbyqxmd.com/read/29925043/molecular-characterization-and-putative-pathogenic-pathways-of-tuberous-sclerosis-complex-associated-renal-cell-carcinoma
#1
Jeong Hwan Park, Cheol Lee, Mee Soo Chang, Kwangsoo Kim, Seongmin Choi, Hyunjung Lee, Hyun-Seob Lee, Kyung Chul Moon
Tuberous sclerosis complex-associated renal cell carcinoma (TSC-RCC) has distinct clinical and histopathologic features and is considered a specific subtype of RCC. The genetic alterations of TSC1 or TSC2 are responsible for the development of TSC. In this study, we assessed the mTOR pathway activation and aimed to evaluate molecular characteristics and pathogenic pathways of TSC-RCC. Two cases of TSC-RCC, one from a 31-year-old female and the other from an 8-year-old male, were assessed. The mTOR pathway activation was determined by immunohistochemistry...
June 17, 2018: Translational Oncology
https://www.readbyqxmd.com/read/29924239/tuberous-sclerosis-complex-review-based-on-new-diagnostic-criteria
#2
Larissa Karine Leite Portocarrero, Klícia Novais Quental, Luciana Paula Samorano, Zilda Najjar Prado de Oliveira, Maria Cecília da Matta Rivitti-Machado
Tuberous sclerosis complex is a multisystemic, autosomal dominant genetic disorder with complete penetrance, that can evolve with hamartomas in multiple organs, such as skin, central nervous system, kidney and lung. Due to the wide phenotypic variability, the disease is often not recognized. Tuberous sclerosis complex affects one in 10,000 newborns and most patients are diagnosed during the first 15 months of life. The diagnostic criteria for tuberous sclerosis were reviewed in 2012, at the second International Tuberous Sclerosis Complex Consensus Conference...
June 2018: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/29923766/wnk-spak-osr1-signaling-lessons-learned-from-an-insect-renal-epithelium
#3
Aylin R Rodan
WNK (With No Lysine (K)) kinases regulate renal epithelial ion transport to maintain homeostasis of electrolyte concentrations, extracellular volume and blood pressure. The SLC12 cation-chloride cotransporters, including the sodium-potassium-2-chloride (NKCC) and sodium-chloride (NCC) cotransporters, are targets of WNK regulation via the intermediary kinases SPAK (Ste20-related proline/alanine-rich kinase) and OSR1 (oxidative stress response). The pathway is activated by low dietary potassium intake, resulting in increased phosphorylation and activity of NCC...
June 20, 2018: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/29923174/circulating-tumor-dna-analysis-enables-molecular-characterization-of-pediatric-renal-tumors-at-diagnosis
#4
Irene Jiménez, Mathieu Chicard, Léo Colmet-Daage, Nathalie Clément, Adrien Danzon, Eve Lapouble, Gaelle Pierron, Mylène Bohec, Sylvain Baulande, Dominique Berrebi, Paul Fréneaux, Aurore Coulomb, Louise Galmiche-Rolland, Sabine Sarnacki, Georges Audry, Pascale Philippe-Chomette, Hervé J Brisse, François Doz, Jean Michon, Olivier Delattre, Gudrun Schleiermacher
Circulating tumor DNA (ctDNA) is a powerful tool for the molecular characterization of cancer. The most frequent pediatric kidney tumors (KT) are Wilms' tumors (WT), but other diagnoses may occur. According to the SIOP strategy, in most countries pediatric KT have a presumptive diagnosis of WT if they are clinically and radiologically compatible. The histologic confirmation is established after post-chemotherapy nephrectomy. Thus, there is a risk for a small fraction of patients to receive neoadjuvant chemotherapy that is not adapted to the disease...
June 19, 2018: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/29923062/hyperphosphatemic-familial-tumoral-calcinosis-secondary-to-fibroblast-growth-factor-23-fgf23-mutation-a-report-of-two-affected-families-and-review-of-the-literature
#5
REVIEW
M Chakhtoura, M S Ramnitz, N Khoury, G Nemer, N Shabb, A Abchee, A Berberi, M Hourani, M Collins, S Ichikawa, G El Hajj Fuleihan
Hyperphosphatemic familial tumoral calcinosis (HFTC), secondary to fibroblast growth factor 23 (FGF23) gene mutation, is a rare genetic disorder characterized by recurrent calcified masses. We describe young Lebanese cousins presenting with HFTC, based on a retrospective chart review and a prospective case study. In addition, we present a comprehensive review on the topic, based on a literature search conducted in PubMed and Google Scholar, in 2014 and updated in December 2017. While the patients had the same previously reported FGF23 gene mutation (homozygous c...
June 20, 2018: Osteoporosis International
https://www.readbyqxmd.com/read/29921718/region-based-convolutional-neural-nets-for-localization-of-glomeruli-in-trichrome-stained-whole-kidney-sections
#6
John D Bukowy, Alex Dayton, Dustin Cloutier, Anna D Manis, Alexander Staruschenko, Julian H Lombard, Leah C Solberg Woods, Daniel A Beard, Allen W Cowley
Background Histologic examination of fixed renal tissue is widely used to assess morphology and the progression of disease. Commonly reported metrics include glomerular number and injury. However, characterization of renal histology is a time-consuming and user-dependent process. To accelerate and improve the process, we have developed a glomerular localization pipeline for trichrome-stained kidney sections using a machine learning image classification algorithm. Methods We prepared 4- μ m slices of kidneys from rats of various genetic backgrounds that were subjected to different experimental protocols and mounted the slices on glass slides...
June 19, 2018: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29920561/human-renal-angiomyolipoma-cells-of-male-and-female-origin-can-migrate-and-are-influenced-by-microenvironmental-factors
#7
Francesca Bertolini, Giulia Casarotti, Luisella Righi, Enrico Bollito, Carlo Albera, Silvia Anna Racca, Donato Colangelo, Barbara Mognetti
BACKGROUND: Improving the knowledge of angiomyolipoma physiopathology might help in refining its pharmacological treatment. We investigated if angiomyolipoma cells have migratory properties, how their growth and motility can be influenced by the hormonal milieu, and if this can be related to a specific gender. METHODS: Primary cells were isolated from angiomyolipomas surgically resected for therapeutical reasons in a female and in a male patient. The genetic control demonstrated no TSC2 deletion...
2018: PloS One
https://www.readbyqxmd.com/read/29916837/clinical-and-genetic-factors-influencing-acenocoumarol-dosing-a-cross-sectional-study
#8
Carolina Vázquez, María Orlova, Paula Scibona, Bruno L Ferreyro, Victoria Otero, Esteban G Jáuregui, Jorge Arbelbide, Waldo H Belloso
: Coumadin oral anticoagulants are widely used in multiple clinical scenarios. Their narrow therapeutic range and a dosing strategy based on 'a posteriori' algorithms, pose them as an interesting group for prediction modelling research. Extensive literature explaining the association between clinical and genetic variables with the dose of warfarin have been published. Limited information exists regarding these factors and acenocoumarol dosing. The aim of the study is to explain through clinical/genetic variables, the weekly dose of acenocoumarol necessary for achieving stable anticoagulation status...
June 18, 2018: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/29915897/darunavir-cobicistat-emtricitabine-tenofovir-alafenamide-a-review-in-hiv-1-infection
#9
Emma D Deeks
Darunavir/cobicistat/emtricitabine/tenofovir AF (Symtuza® ) is the first protease inhibitor (PI)-based single-tablet regimen (STR) available for the treatment of adults and adolescents (aged ≥ 12 years) with HIV-1 infection. It combines the PI darunavir (which has a high genetic barrier to resistance) with the pharmacokinetic booster cobicistat and the nucleos(t)ide reverse transcriptase inhibitors emtricitabine and tenofovir alafenamide (tenofovir AF), the latter being associated with less off-target tenofovir exposure than its predecessor tenofovir disoproxil fumarate (tenofovir DF)...
June 18, 2018: Drugs
https://www.readbyqxmd.com/read/29915083/early-loss-of-mitochondrial-complex-i-and-rewiring-of-glutathione-metabolism-in-renal-oncocytoma
#10
Raj K Gopal, Sarah E Calvo, Angela R Shih, Frances L Chaves, Declan McGuone, Eran Mick, Kerry A Pierce, Yang Li, Andrea Garofalo, Eliezer M Van Allen, Clary B Clish, Esther Oliva, Vamsi K Mootha
Renal oncocytomas are benign tumors characterized by a marked accumulation of mitochondria. We report a combined exome, transcriptome, and metabolome analysis of these tumors. Joint analysis of the nuclear and mitochondrial (mtDNA) genomes reveals loss-of-function mtDNA mutations occurring at high variant allele fractions, consistent with positive selection, in genes encoding complex I as the most frequent genetic events. A subset of these tumors also exhibits chromosome 1 loss and/or cyclin D1 overexpression, suggesting they follow complex I loss...
June 18, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29914758/specific-inhibition-of-hepatic-lactate-dehydrogenase-reduces-oxalate-production-in-mouse-models-of-primary-hyperoxaluria
#11
Chengjung Lai, Natalie Pursell, Jessica Gierut, Utsav Saxena, Wei Zhou, Michael Dills, Rohan Diwanji, Chaitali Dutta, Martin Koser, Naim Nazef, Rachel Storr, Boyoung Kim, Cristina Martin-Higueras, Eduardo Salido, Weimin Wang, Marc Abrams, Henryk Dudek, Bob D Brown
Primary hyperoxalurias (PHs) are autosomal recessive disorders caused by the overproduction of oxalate leading to calcium oxalate precipitation in the kidney and eventually to end-stage renal disease. One promising strategy to treat PHs is to reduce the hepatic production of oxalate through substrate reduction therapy by inhibiting liver-specific glycolate oxidase (GO), which controls the conversion of glycolate to glyoxylate, the proposed main precursor to oxalate. Alternatively, diminishing the amount of hepatic lactate dehydrogenase (LDH) expression, the proposed key enzyme responsible for converting glyoxylate to oxalate, should directly prevent the accumulation of oxalate in PH patients...
June 15, 2018: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/29912766/clinical-utility-of-fluorescence-in-situ-hybridization-fish-for-deletion-of-chromosome-3p-in-the-work-up-of-renal-masses
#12
Carmen M Perrino, Jason A Orien, Jason G Tretter, Weiqiang Zhao, Debra L Zynger
Chromosome 3p deletion is a well-established genetic aberration in clear cell renal cell carcinoma (RCC). We aimed to evaluate the clinical utility of 3p fluorescence in situ hybridization (FISH) on formalin-fixed paraffin-embedded tissue in surgical pathology specimens. 3p:3q <0.8 was established as the cut-off for 3p loss. The 2015 Medicare allowable billing rates were used to estimate the cost. Over 2.5 years (2013 to 2015), 3p FISH was performed on 18 cases per year. Among tested cases, 70% (30/43) were nephrectomies and 30% (14/43) metastases...
June 15, 2018: Applied Immunohistochemistry & Molecular Morphology: AIMM
https://www.readbyqxmd.com/read/29912582/biomarkers-of-aggressiveness-in-genitourinary-tumors-with-emphasis-on-kidney-bladder-and-prostate-cancer
#13
Alessia Cimadamore, Silvia Gasparrini, Matteo Santoni, Liang Cheng, Antonio Lopez-Beltran, Nicola Battelli, Francesco Massari, Francesca Giunchi, Michelangelo Fiorentino, Marina Scarpelli, Rodolfo Montironi
Over the last decade, the improvement in molecular techniques and the acquisition of genomic information has transformed and increased the quality of patient care and our knowledge of diseases. Areas covered: Protein expression levels in immunohistochemistry and molecular biomarkers are reported for their ability to predict recurrence, progression, development of metastases, or patient survival. In particular, for renal cell carcinoma, we take into consideration the biomarkers applicable to immunohistochemistry and with molecular and genetic analyses...
June 18, 2018: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/29909475/stress-genes-and-hypertension-contribution-of-the-isiah-rat-strain-study
#14
REVIEW
Olga E Redina, Arcady L Markel
PURPOSE OF REVIEW: Acute psychoemotional stress is one of the causes of a sharp increase in blood pressure. However, the question if the stress may promote the hypertensive disease development is still open. This review aims, firstly, to show that the genetically determined enhanced responsiveness to stress is linked to sustained hypertension development and, secondly, to characterize the main physiological mechanisms and genetic factors implicated in the pathogenesis of stress-sensitive hypertension...
June 16, 2018: Current Hypertension Reports
https://www.readbyqxmd.com/read/29907460/clinical-and-genetic-predictors-of-atypical-hemolytic-uremic-syndrome-phenotype-and-outcome
#15
Franz Schaefer, Gianluigi Ardissino, Gema Ariceta, Fadi Fakhouri, Marie Scully, Nicole Isbel, Åsa Lommelé, Varant Kupelian, Christoph Gasteyger, Larry A Greenbaum, Sally Johnson, Masayo Ogawa, Christoph Licht, Johan Vande Walle, Véronique Frémeaux-Bacchi
Atypical hemolytic uremic syndrome (aHUS) is a rare, genetic, life-threatening disease. The Global aHUS Registry collects real-world data on the natural history of the disease. Here we characterize end-stage renal disease (ESRD)-free survival, the rate of thrombotic microangiopathy, organ involvement and the genetic background of 851 patients in the registry, prior to eculizumab treatment. A sex-specific difference was apparent according to age at initial disease onset as the ratio of males to females was 1...
June 12, 2018: Kidney International
https://www.readbyqxmd.com/read/29905933/the-classification-of-pediatric-and-young-adult-renal-cell-carcinomas-registered-on-the-children-s-oncology-group-cog-protocol-aren03b2-after-focused-genetic-testing
#16
Mariana M Cajaiba, Lisa M Dyer, James I Geller, Lawrence J Jennings, David George, Dawn Kirschmann, Stephen M Rohan, Nicholas G Cost, Geetika Khanna, Elizabeth A Mullen, Jeffrey S Dome, Conrad V Fernandez, Elizabeth J Perlman
BACKGROUND: Renal cell carcinomas (RCCs) are rare in young patients. Knowledge of their pathologic and molecular spectrum remains limited, and no prospective studies have been performed to date in this population. This study analyzes patients diagnosed with RCC who were prospectively enrolled in the AREN03B2 Children's Oncology Group (COG). The objective was to classify these tumors with the aid of focused genetic testing and to characterize their features. METHODS: All tumors registered as RCC by central review were retrospectively re-reviewed and underwent additional ancillary studies...
June 15, 2018: Cancer
https://www.readbyqxmd.com/read/29904633/physiology-of-hyperuricemia-and-urate-lowering-treatments
#17
REVIEW
Caroline L Benn, Pinky Dua, Rachel Gurrell, Peter Loudon, Andrew Pike, R Ian Storer, Ciara Vangjeli
Gout is the most common form of inflammatory arthritis and is a multifactorial disease typically characterized by hyperuricemia and monosodium urate crystal deposition predominantly in, but not limited to, the joints and the urinary tract. The prevalence of gout and hyperuricemia has increased in developed countries over the past two decades and research into the area has become progressively more active. We review the current field of knowledge with emphasis on active areas of hyperuricemia research including the underlying physiology, genetics and epidemiology, with a focus on studies which suggest association of hyperuricemia with common comorbidities including cardiovascular disease, renal insufficiency, metabolic syndrome and diabetes...
2018: Frontiers in Medicine
https://www.readbyqxmd.com/read/29903699/a-putative-role-of-apolipoprotein-l1-polymorphism-in-renal-parenchymal-scarring-following-febrile-urinary-tract-infection-in-nigerian-under-five-children-proposal-for-a-case-control-association-study
#18
Emmanuel Ademola Anigilaje
BACKGROUND: Although urinary tract infection (UTI) resolves with prompt treatment in a majority of children, some children, especially those aged less than 5 years, also develop renal parenchymal scarring (RPS). RPS causes high blood pressure that may lead to severe chronic kidney disease and end-stage renal disease (ESRD). Although the risk of UTI is higher in white children than in black children, it is unknown whether RPS is more common in white children than in black children as data are scarce in this regard...
June 14, 2018: JMIR Research Protocols
https://www.readbyqxmd.com/read/29901133/molecular-analysis-of-cypriot-families-with-aniridia-reveals-a-novel-pax6-mutation
#19
Andreas Syrimis, Nayia Nicolaou, Angelos Alexandrou, Ioannis Papaevripidou, Michael Nicolaou, Eleni Loukianou, Carolina Sismani, Stavros Malas, Violetta Christophidou-Anastasiadou, George A Tanteles
The present study investigated the clinical and mutational spectrum of aniridia in a cohort of 17 affected individuals from six families from Cyprus. Each proband was initially evaluated for copy number variants at the PAX6 locus and subsequently underwent PAX6 mutation screening. Sequence analysis of FOXC1 and PITX2 was performed in patients who did not carry a PAX6 mutation. The most common clinical features in the group of aniridia patients associated with aniridia were nystagmus, cataracts and glaucoma...
June 5, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29900164/bartter-syndrome-type-3-phenotype-genotype-correlation-and-favorable-response-to-ibuprofen
#20
Xuejun Yang, Gaofu Zhang, Mo Wang, Haiping Yang, Qiu Li
Objective: To investigate the phenotype-genotype correlation in different genetic kinds of Bartter syndrome type 3 in children. Methods: Clinical and genetic data of 2 patients with different mutations in Bartter syndrome type 3 was analyzed while the prognosis was compared after a 6-year follow-up or 2-year follow-up, respectively. Results: Bartter syndrome is a kind of autosomal recessive inherited renal disorder. The manifestation and prognosis of Bartter syndrome change with mutation types, and severe mutation were often accompanied with unfavorable prognosis...
2018: Frontiers in Pediatrics
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