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https://www.readbyqxmd.com/read/28723748/clinical-characteristics-and-mutation-spectrum-of-gla-in-korean-patients-with-fabry-disease-by-a-nationwide-survey-underdiagnosis-of-late-onset-phenotype
#1
Jin-Ho Choi, Beom Hee Lee, Sun Hee Heo, Gu-Hwan Kim, Yoo-Mi Kim, Dae-Seong Kim, Jung Min Ko, Young Bae Sohn, Yong Hee Hong, Dong-Hwan Lee, Hoon Kook, Han Hyuk Lim, Kyung Hee Kim, Woo-Shik Kim, Geu-Ru Hong, Su-Hyun Kim, Sang Hyun Park, Chan-Duck Kim, So Mi Kim, Jeong-Sook Seo, Han-Wook Yoo
Fabry disease is a rare X-linked lysosomal storage disorder caused by an α-galactosidase A deficiency. The progressive accumulation of globotriaosylceramide (GL-3) results in life-threatening complications, including renal, cardiac, and cerebrovascular diseases. This study investigated the phenotypic and molecular spectra of GLA mutations in Korean patients with Fabry disease using a nationwide survey.This study included 94 patients from 46 independent pedigrees: 38 adult males, 46 symptomatic females, and 10 pediatric males...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28723648/cytosine-5-hydroxymethylation-regulates-vhl-gene-expression-in-renal-clear-cell-carcinoma
#2
En-Guang Ma, Yu-Feng Bai, Wei Cao, Yan Cao, Yong-Gang Huang, Huan-Chen Cheng, Rui-Hua An
Cytosine5-hyxymethylation (5hmC)which is a new epigenetic modification form plays important roles in the development and progression of tumors. In the present study, we observed that levels of 5hmC in the promoter region of Von Hippel-Lindau (VHL) were lower in 97 samples of renal clear cell carcinoma tissue than in matched adjacent benign tissues. Moreover, when the cancer tissue samples were divided based on pathological staging, VHL expression and the level of 5hmC in the VHL promoter were both lower in pathological grade III tumors than in grades I or II...
July 7, 2017: Oncotarget
https://www.readbyqxmd.com/read/28723495/surgical-management-and-oncologic-outcomes-of-recurrent-venous-tumor-thrombus-after-prior-nephrectomy-for-renal-cell-carcinoma
#3
William P Parker, Stephen A Boorjian, Harras B Zaid, John C Cheville, Bradley C Leibovich, R Houston Thompson
BACKGROUND: While the management of a venous tumor thrombus in renal cell carcinoma is well described, there is a paucity of evidence to guide care in patients who recur within the vena cava. OBJECTIVE: To report our experience with patients presenting with recurrent venous tumor thrombi after prior radical nephrectomy. DESIGN, SETTING, AND PARTICIPANTS: A retrospective review of 16 patients from 1970 to 2013 with a history of renal cell carcinoma treated surgically for a recurrent tumor thrombus unrelated to a new renal tumor...
December 15, 2016: European Urology Focus
https://www.readbyqxmd.com/read/28723490/renal-preservation-and-partial-nephrectomy-patient-and-surgical-factors
#4
REVIEW
Lorenzo Marconi, Mihir M Desai, Vincenzo Ficarra, Francesco Porpiglia, Hendrik Van Poppel
CONTEXT: Optimization of the partial nephrectomy (PN) procedure in terms of preservation of functional outcomes is of special importance. OBJECTIVE: To review the most important patient and surgical factors that may influence the three elements that ultimately define the preservation of renal function (RF) after PN: preoperative RF, quantity of parenchyma preserved, and nephron recovery from ischemic insult. EVIDENCE ACQUISITION: A nonsystematic review of the literature was conducted...
December 15, 2016: European Urology Focus
https://www.readbyqxmd.com/read/28722795/influence-of-renal-function-on-anticoagulation-control-in-patients-with-non-valvular-atrial-fibrillation-taking-vitamin-k-antagonists
#5
José M Lobos-Bejarano, Angel Castellanos Rodríguez, Vivencio Barrios, Carlos Escobar, José Polo-García, José Carlos Del Castillo-Rodríguez, Diego Vargas-Ortega, Adriana Lopez-Pineda, Luis Prieto-Valiente, Gregory Y H Lip
BACKGROUND AND PURPOSE: Chronic kidney disease (CKD) has been related to poor anticoagulation control and an increased risk of bleeding. This study aims to evaluate the association between impaired renal function (eGFR <60 mL/min/1.73 m(2) ) and anticoagulation control in patients with non-valvular atrial fibrillation (AF) on vitamin K antagonists (VKA) therapy. We also assessed whether the predictive value of the SAMe-TT2 R2 score prevailed for subgroups both with and without CKD...
July 19, 2017: International Journal of Clinical Practice
https://www.readbyqxmd.com/read/28721687/practical-approach-to-initiating-sglt2-inhibitors-in-type-2-diabetes
#6
REVIEW
Fernando Gomez-Peralta, Cristina Abreu, Albert Lecube, Diego Bellido, Alfonso Soto, Cristóbal Morales, Miguel Brito-Sanfiel, Guillermo Umpierrez
Sodium-glucose co-transporter 2 (SGLT2) inhibitors are an attractive novel therapeutic option for the treatment of type 2 diabetes. They block the reabsorption of filtered glucose in kidneys, mainly in proximal renal tubules, resulting in increased urinary glucose excretion and correction of the diabetes-related hyperglycemia. Beyond improving glucose control, SGLT2 inhibitors offer potential benefits by reducing body weight and blood pressure. On the basis of the efficacy demonstrated in clinical trials, SGLT2 inhibitors are recommended as second- or third-line agents for the management of patients with type 2 diabetes...
July 18, 2017: Diabetes Therapy: Research, Treatment and Education of Diabetes and related Disorders
https://www.readbyqxmd.com/read/28721497/normoalbuminuric-diabetic-kidney-disease
#7
REVIEW
Chao Chen, Chang Wang, Chun Hu, Yachun Han, Li Zhao, Xuejing Zhu, Li Xiao, Lin Sun
Diabetic kidney disease (DKD) is one of the primary causes of end-stage renal disease (ESRD). Early diagnosis is very important in preventing the development of DKD. Urinary albumin excretion rate (UAER) and glomerular filtration rate (GFR) are widely accepted as criteria for the diagnosis and clinical grading of DKD, and microalbuminuria has been recommended as the first clinical sign of DKD. The natural history of DKD has been divided into three stages: normoalbuminuria, microalbuminuria, and macroalbuminuria...
July 18, 2017: Frontiers of Medicine
https://www.readbyqxmd.com/read/28721063/annual-deterioration-of-renal-function-in-hypertensive-patients-with-and-without-diabetes
#8
Jorge Polonia, André Azevedo, Miguel Monte, José A Silva, Susana Bertoquini
BACKGROUND: Chronic kidney disease (CKD) complicates hypertension and diabetes. Knowledge of the deterioration rate of CKD may anticipate adjustment of therapies with renal elimination. This study evaluates the rate of annual deterioration of renal function in hypertensive patients either with type 2 diabetes (DM2) or without it (non-DM) followed for 5 years and relates it with blood pressure (BP) and glycemic control. MATERIALS AND METHODS: Out of a total of 1924 patients, 1023 patients (594 non-DM and 429 DM2, 53% female, aged 62...
2017: Vascular Health and Risk Management
https://www.readbyqxmd.com/read/28721060/clinical-use-of-lenvatinib-in-combination-with-everolimus-for-the-treatment-of-advanced-renal-cell-carcinoma
#9
REVIEW
Alessandro Leonetti, Francesco Leonardi, Melissa Bersanelli, Sebastiano Buti
INTRODUCTION: Renal cell carcinoma (RCC) represents 2%-3% of all cancers in adults, and its pathogenesis is mainly related to altered cellular response to hypoxia. Lenvatinib, a novel multitarget tyrosine kinase inhibitor (TKI), represents a therapeutic option, in combination with mammalian target of rapamycin (mTOR) inhibitor everolimus, for the treatment of metastatic RCC (mRCC). AIM: The objective of this article is to review the evidence about the treatment of mRCC with combination of lenvatinib plus everolimus...
2017: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/28720778/visualization-of-kidney-fibrosis-in-diabetic-nephropathy-by-long-diffusion-tensor-imaging-mri-with-spin-echo-sequence
#10
Jun-Ya Kaimori, Yoshitaka Isaka, Masaki Hatanaka, Satoko Yamamoto, Naotsugu Ichimaru, Akihiko Fujikawa, Hiroshi Shibata, Akira Fujimori, Sosuke Miyoshi, Takashi Yokawa, Kagayaki Kuroda, Toshiki Moriyama, Hiromi Rakugi, Shiro Takahara
Renal fibrosis (RF) is an indicator for progression of chronic kidney disease (CKD). Although diabetic nephropathy (DN) is the leading cause of CKD and end-stage renal disease in Western populations, the ability of MRI to evaluate RF in DN patients has not been determined. As a first step to identify possible MRI methods for RF evaluation, we examined the use of diffusion tensor imaging (DTI) MRI to evaluate RF in a rat model of DN (SHR/NDmcr-cp(cp/cp): SHR/ND). The signal-to-noise ratio in DTI MRI was enhanced using a spin-echo sequence, and a special kidney attachment was developed for long-term stabilization...
July 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28720684/fsgs-as-an-adaptive-response-to-growth-induced-podocyte-stress
#11
Ryuzoh Nishizono, Masao Kikuchi, Su Q Wang, Mahboob Chowdhury, Viji Nair, John Hartman, Akihiro Fukuda, Larysa Wickman, Jeffrey B Hodgin, Markus Bitzer, Abhijit Naik, Jocelyn Wiggins, Matthias Kretzler, Roger C Wiggins
Glomerular sclerotic lesions develop when the glomerular filtration surface area exceeds the availability of podocyte foot process coverage, but the mechanisms involved are incompletely characterized. We evaluated potential mechanisms using a transgenic (podocin promoter-AA-4E-BP1) rat in which podocyte capacity for hypertrophy in response to growth factor/nutrient signaling is impaired. FSGS lesions resembling human FSGS developed spontaneously by 7 months of age, and could be induced earlier by accelerating kidney hypertrophy by nephrectomy...
July 18, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28720439/outcomes-of-patients-with-long-term-treatment-response-to-vascular-endothelial-growth-factor-targeted-therapy-for-metastatic-renal-cell-cancer
#12
Tomas Buchler, Alexandr Poprach, Zbynek Bortlicek, Radek Lakomy, Renata Chloupková, Rostislav Vyzula, Milada Zemanova, Katerina Kopeckova, Marek Svoboda, Ondrej Slaby, Igor Kiss, Hana Studentova, Jana Hornova, Ondrej Fiala, Jindrich Kopecky, Jindrich Finek, Ladislav Dusek, Bohuslav Melichar
BACKGROUND: Although targeted therapies with inhibitors of the vascular endothelial growth factor (VEGF) are the mainstay of treatment for metastatic renal cell carcinoma, there are limited data on the outcome of patients with long-term response to this treatment. PATIENTS AND METHODS: In a retrospective, registry-based study, patients continuously treated with first-line anti-VEGF agents for at least 24 months were included. In total, 219 patients had evaluable data and were included in the outcome analysis...
June 29, 2017: Clinical Genitourinary Cancer
https://www.readbyqxmd.com/read/28719236/applying-an-artificial-neural-network-model-for-developing-a-severity-score-for-patients-with-hereditary-amyloid-polyneuropathy
#13
Shenia Novis, Felipe Machado, Victor B Costa, Debora Foguel, Marcia W Cruz, José Manoel de Seixas
Hereditary (familial) amyloid polyneuropathy (FAP) is a systemic disease that includes a sensorimotor polyneuropathy related to transthyretin (TTR) mutations. So far, a scale designed to classify the severity of this disease has not yet been validated. This work proposes the implementation of an artificial neural network (ANN) in order to develop a severity scale for monitoring the disease progression in FAP patients. In order to achieve this goal, relevant symptoms and laboratory findings were collected from 98 Brazilian patients included in THAOS - the Transthyretin Amyloidosis Outcomes Survey...
July 18, 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/28717668/different-renal-phenotypes-in-related-adult-males-with-fabry-disease-with-the-same-classic-genotype
#14
Renzo Mignani, Mariarita Moschella, Giovanna Cenacchi, Ilaria Donati, Marta Flachi, Daniela Grimaldi, Davide Cerretani, Paola De Giovanni, Marcello Montevecchi, Angelo Rigotti, Alessandro Ravasio
BACKGROUND: Fabry disease related patients with classical mutation usually exhibit similar severe phenotype especially concerning renal manifestation. METHODS: A dry blood spot screening (DBS) and the DNA analysis has been performed in a 48-year-old man (Patient 1) because of paresthesia. RESULTS: The DBS revealed absent leukocyte α-Gal A enzyme activity while DNA analysis identified the I354K mutation. Serum creatinine and e-GFR were in normal range and also albuminuria and proteinuria were absent...
July 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28716159/bilateral-wilms-tumour-a-review-of-clinical-and-molecular-features
#15
Jocelyn Charlton, Sabine Irtan, Christophe Bergeron, Kathy Pritchard-Jones
Wilms tumour (WT) is the most common paediatric kidney cancer and affects approximately one in 10 000 children. The tumour is associated with undifferentiated embryonic lesions called nephrogenic rests (NRs) or, when diffuse, nephroblastomatosis. WT or NRs can occur in both kidneys, termed bilateral disease, found in only 5-8% of cases. Management of bilateral WT presents a major clinical challenge in terms of maximising survival, preserving renal function and understanding underlying genetic risk. In this review, we compile clinical data from 545 published cases of bilateral WT and discuss recent progress in understanding the molecular basis of bilateral WT and its associated precursor NRs in the context of the latest radiological, surgical and epidemiological features...
July 18, 2017: Expert Reviews in Molecular Medicine
https://www.readbyqxmd.com/read/28716069/angiosarcoma-treated-successfully-with-anti-pd-1-therapy-a-case-report
#16
Simran Sindhu, Lana H Gimber, Lee Cranmer, Ali McBride, Andrew S Kraft
BACKGROUND: Angiosarcomas are tumors of malignant endothelial origin that have a poor prognosis with a five-year survival of less than 40%. These tumors can be found in all age groups, but are more common in older patients; with the cutaneous form most common in older white men. Combined modality therapy including surgery and radiation appears to have a better outcome than each modality alone. When metastatic, agents such as liposomal doxorubicin, paclitaxel and ifosfamide have activity but it is short-lived and not curative...
July 18, 2017: Journal for Immunotherapy of Cancer
https://www.readbyqxmd.com/read/28716013/long-term-renal-survival-of-%C3%AE-3-heavy-chain-deposition-disease-a-case-report
#17
Takayuki Katsuno, Shige Mizuno, Masatsuna Mabuchi, Naotake Tsuboi, Atsushi Komatsuda, Shoichi Maruyama
BACKGROUND: Monoclonal immunoglobulin deposition disease (MIDD) is characterized by the non-amyloid deposition of monoclonal immunoglobulin fragments in the basement membranes. Heavy chain deposition disease (HCDD) is a type of MIDD. HCDD is an extremely rare disease, and only three cases have been reported in Japan up to the present. The prognosis of HCDD is very poor, and optimal treatment has not been established. Only a few cases of HCDD with favorable long-term renal prognosis have been reported to date...
July 17, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28715949/contrast-enhanced-ultrasound-for-assessing-renal-perfusion-impairment-and-predicting-acute-kidney-injury-to-chronic-kidney-disease-progression
#18
Wei Cao, Shuang Cui, Li Yang, Chunyi Wu, Jian Liu, Fang Yang, Youhua Liu, Jianping Bin, Fan Fan Hou
AIMS: Acute kidney injury (AKI) is increasingly recognized as a major risk factor leading to progression to chronic kidney disease (CKD). However, the diagnostic tools for predicting AKI to CKD progression are particularly lacking. Here, we tested the utility of contrast enhanced ultrasound (CEUS) for predicting progression to CKD after AKI by using both mild (20-minute) and severe (45-minute) bilateral renal ischemia/reperfusion injury (IRI) mice. RESULTS: Renal perfusion measured by CEUS reduced to 25%±7% and 14%±6% of the pre-ischemic levels in mild and severe AKI 1 hour after ischemia (P<0...
July 17, 2017: Antioxidants & Redox Signaling
https://www.readbyqxmd.com/read/28714649/-gender-differences-in-chronic-kidney-diseases-myth-or-reality
#19
Patricia Mehier, Michel Burnier, Menno Pruijm
Chronic kidney disease (CKD) concerns about 10 % of the population in Switzerland. Epidemiological studies suggest that women are less prone to the development of CKD than men, and progress less rapidly to end stage renal disease. This protection seems lost when entering menopause. The reasons for this finding may stem from hormonal, structural or hemodynamic differences, yet the precise underlying mechanisms are so far incompletely understood. Some animal studies suggest a potentially beneficial effect of estrogen therapy, mainly in diabetes, yet data in humans are lacking...
February 22, 2017: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28714020/potential-role-of-upregulated-microrna%C3%A2-146b-and-%C3%A2-21-in-renal-fibrosis
#20
Guangda Xin, Guangyu Zhou, Xiaofei Zhang, Wanning Wang
The aim of the present study was to identify candidate microRNAs (miRNAs) involved in the progression of renal fibrosis. Dataset GSE42716 of miRNAs extracted from kidneys from mice with unilateral ureteral obstruction (UUO), and mice without UUO was downloaded from the Gene Expression Omnibus database. The Limma package was used to identify differential expression between mice with and without UUO. Renal disease‑related miRNAs were predicted based on the miRWalk database. Thereafter, candidate miRNAs were screened by taking the intersection of differentially expressed miRNAs and predicted miRNAs, followed by screening of target genes using miRWalk and transcription factors using the TransmiR database...
July 5, 2017: Molecular Medicine Reports
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