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https://www.readbyqxmd.com/read/28776307/genetic-basis-of-adult-onset-nephrotic-syndrome-and-focal-segmental-glomerulosclerosis
#1
REVIEW
Jian Liu, Weiming Wang
Nephrotic syndrome (NS) is one of the most common glomerular diseases with signs of nephrosis, heavy proteinuria, hypoalbuminemia, and edema. Dysfunction of glomerular filtration barrier causes protein loss through the kidneys. Focal segmental glomerulosclerosis (FSGS) accounts for nearly 20% of NS among children and adults. Adult-onset FSGS/NS is often associated with low response to steroid treatment and immunosuppressive medication and poor renal survival. Several genes involved in NS and FSGS have been identified by linkage analysis and next-generation sequencing...
August 3, 2017: Frontiers of Medicine
https://www.readbyqxmd.com/read/28774949/renoprotective-effect-of-topiroxostat-via-antioxidant-activity-in-puromycin-aminonucleoside-nephrosis-rats
#2
Yosuke Kawamorita, Takeshi Shiraishi, Yoshifuru Tamura, Takanori Kumagai, Shigeru Shibata, Yoshihide Fujigaki, Makoto Hosoyamada, Takahiko Nakagawa, Shunya Uchida
Topiroxostat is a novel inhibitor of xanthine oxidase, and is postulated to exert a renoprotective effect. Puromycin aminonucleoside nephrosis (PAN) is a rat model of minimal change nephrotic syndrome. In this study, we examined whether topiroxostat ameliorates the kidney injury in PAN rats that was induced by a single intraperitoneal injection of PA (100 mg/kg body weight). Rats were divided into four groups: control rats, PAN rats, control rats treated with topiroxostat (1.0 mg/kg/day), and PAN rats treated with topiroxostat...
August 2017: Physiological Reports
https://www.readbyqxmd.com/read/28759006/re-expression-of-sall1-in-podocytes-protects-against-adriamycin-induced-nephrosis
#3
Yoshiko Hosoe-Nagai, Teruo Hidaka, Ayano Sonoda, Yu Sasaki, Kanae Yamamoto-Nonaka, Takuto Seki, Rin Asao, Eriko Tanaka, Juan Alejandro Oliva Trejo, Fumiko Kodama, Miyuki Takagi, Nobuhiro Tada, Takashi Ueno, Ryuichi Nishinakamura, Yasuhiko Tomino, Katsuhiko Asanuma
The highly conserved spalt (sal) gene family members encode proteins characterized by multiple double zinc finger motifs of the C2H2 type. Humans and mice each have four known Sal-like genes (SALL1-4 in humans and Sall1-4 in mice). Sall1 is known to have a crucial role in kidney development. To explore the significance of Sall1 in differentiated podocytes, we investigated podocyte-specific Sall1-deficient mice (Sall1 KO(p)°(d)°(/p)°(d)°) using a podocin-Cre/loxP system and siRNA Sall1 knockdown (Sall1 KD) podocytes...
July 31, 2017: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/28720660/an-amish-founder-mutation-disrupts-a-pi-3-p-whamm-arp2-3-complex-driven-autophagosome-remodeling-pathway
#4
Alyssa J Mathiowetz, Emma Baple, Ashley J Russo, Alyssa M Coulter, Eric Carrano, Judith D Brown, Robert N Jinks, Andrew H Crosby, Kenneth G Campellone
Actin nucleation factors function to organize, shape, and move membrane-bound organelles, yet they remain poorly defined in relation to disease. Galloway-Mowat syndrome (GMS) is an inherited disorder characterized by microcephaly and nephrosis resulting from mutations in the WDR73 gene. This core clinical phenotype appears frequently in the Amish, where virtually all affected individuals harbor homozygous founder mutations in WDR73 as well as the closely linked WHAMM gene, which encodes a nucleation factor...
July 18, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/28709595/losing-their-footing-rac1-signaling-causes-podocyte-detachment-and-fsgs
#5
Gentzon Hall, Robert F Spurney
Selective modulation of Rho GTPase activity in podocytes recapitulates characteristic features of human nephrosis. Using a mouse model, Robins et al. found that high levels of Rac1 activation in podocytes caused podocyte detachment and glomerulosclerosis. Podocyte Rac1 activity was enhanced in biopsy specimens from patients with nephrosis, and serum from this patient population activated Rac1 in cultured podocytes. These data provide a causal link between podocyte Rac1 activation and human nephrotic diseases...
August 2017: Kidney International
https://www.readbyqxmd.com/read/28699032/combined-cyclosporine-and-prednisolone-therapy-using-cyclosporine-blood-concentration-monitoring-for-adult-patients-with-new-onset-minimal-change-nephrotic-syndrome-a-single-center-pilot-randomized-trial
#6
Sayuri Shirai, Naohiko Imai, Shina Sueki, Katsuomi Matsui, Naoto Tominaga, Tsutomu Sakurada, Takashi Yasuda, Kenjiro Kimura, Yugo Shibagaki
BACKGROUND: Minimal change nephrotic syndrome (MCNS) responds well to steroids, but some patients show frequent relapses. Long-term steroid administration leads to various adverse effects. We previously reported the effectiveness in refractory nephrosis patients of administrating microemulsified CyA (ME-CyA) once before meals and setting the target value of the CyA blood concentration at 2 h after ME-CyA administration (C2) to 600-1200 ng/ml. On this trial we evaluate the effectiveness and safety of ME-CyA for suppressing relapse of adult new-onset MCNS patients using C2 monitoring...
July 11, 2017: Clinical and Experimental Nephrology
https://www.readbyqxmd.com/read/28668147/acute-myocardial-infarction-in-a-young-girl-with-nephrotic-syndrome-a-case-report-and-literature-review
#7
Yan Zhao, Wenhua Su, Shiqi Liu, Qian Huo, Hong Zhang
Acute myocardial infarction is not a very rare complication of nephrotic syndrome. The pathogenesis of ischemic heart disease among patients with nephrosis is commonly thrombosis, whereas atherosclerosis is rare, especially in young individuals. In this case report, we present a 15-year-old girl with nephrotic syndrome who had acute non-ST-elevation myocardial infarction secondary to atherosclerosis of the 3 coronary arteries.
July 2017: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/28665076/congenital-syphilis-presenting-with-only-nephrotic-syndrome-reemergence-of-a-forgotten-disease
#8
Yun Hee Kim, Ji Ho Song, Chan Jong Kim, Eun Mi Yang
Syphilis infection has re-emerged after years of declining incidence. The prevalence of congenital syphilis (CS) has increased in Korea and other countries during the last few decades. Untreated infants develop symptoms such as rhinorrhea, anemia, jaundice, cutaneous lesions, hepatosplenomegaly, and pseudoparalysis within weeks or months. Significant renal disease is uncommon in CS, and clinical renal involvement varies from mild transient proteinuria to frank nephrosis. We report a 2-month-old infant with CS who presented with only nephrotic syndrome (NS)...
August 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/28638601/the-efficacy-of-rituximab-in-adult-frequently-relapsing-minimal-change-disease
#9
Catherine King, Sarah Logan, Stuart W Smith, Peter Hewins
BACKGROUND: Corticosteroids are the basis of treatment for nephrotic syndrome due to minimal change disease (MCD), but 25% of patients have frequently relapsing nephrotic syndrome (FRNS) and 30% become steroid dependent. Prolonged use of conventional immunosuppressants causes significant toxicity. Rituximab (RTX) is now included in guidelines for childhood MCD. Evidence for use in adult MCD is limited. We describe a single-centre experience of RTX use in adult MCD. METHODS: Outcomes of all adult MCD patients treated with RTX for FRNS between 2008 and 2015 were retrospectively analysed...
February 2017: Clinical Kidney Journal
https://www.readbyqxmd.com/read/28637442/membranous-nephropathy-a-retrospective-observational-study-of-membranous-nephropathy-in-north-east-and-central-london
#10
Sanjana Gupta, John Connolly, Ruth J Pepper, Stephen B Walsh, Magdi M Yaqoob, Robert Kleta, Neil Ashman
BACKGROUND: Membranous nephropathy (MN) is the leading cause of nephrotic syndrome in adults. MN is a clinically heterogeneous disease and it is difficult to accurately predict outcomes (including end stage renal failure) at presentation and whom to treat with potentially toxic therapies. We aimed to identify factors predicting outcome in MN in our cohort from two large tertiary London units by undertaking a retrospective data analysis of 148 biopsy-proven MN patients from North East and Central London between 1995 and 2015...
June 21, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28533882/-idiopathic-nephrotic-syndrome-ins-in-children-in-dakar-about-40-cases
#11
Younoussa Keita, Ahmed Tall Lemrabott, Assane Sylla, Babacar Niang, El Hadji Fary Ka, Chérif Mohamed Dial, Aliou Abdoulaye Ndongo, Amadou Sow, Claude Moreira, Abdou Niang, Ousmane Ndiaye, Boucar Diouf, Mouhamadou Guélaye Sall
INTRODUCTION: This study aimed to analyze the diagnostic, therapeutic, and evolutionary features of nephrosis in children in a pediatric department in Dakar. METHODS: The study was carried out in the Department of Pediatrics at the Aristide Le Dantec Hospital. We conducted a retrospective study over a period of 3 years from 1 January 2012 to 31 December 2014. All patients aged 2-12 years with idiopathic nephrotic syndrome were included in the study. RESULTS: Forty cases of nephrosis were collected, that is to say a prevalence of 23% among patients with kidney disease treated in the Department of Pediatrics...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28528353/adrenomedullin-ameliorates-podocyte-injury-induced-by-puromycin-aminonucleoside-in-vitro-and-in-vivo-through-modulation-of-rho-gtpases
#12
Nan Dong, Lixia Meng, Ruqun Xue, Meng Yu, Zhonghua Zhao, Xueguang Liu
PURPOSE: Podocyte injury is a key event in proteinuric kidney disease and eventually glomerular scarring. While adrenomedullin (AM), a potent vasodilatory peptide, has been reported to confer renoprotection in several experimental models of kidney diseases, its effect on injured podocytes and the related mechanism is still largely unknown. METHODS: Employing Western blotting analysis, immunoprecipitation and immunofluorescence, we investigated the effects of AM on the expressions of podocyte cytoskeletal proteins and Rho-family small GTPases (Rho GTPases) in puromycin aminonucleoside (PAN)-induced podocyte injury, both in cultured podocytes and in PAN nephrosis rats...
August 2017: International Urology and Nephrology
https://www.readbyqxmd.com/read/28448596/prevalence-and-complications-of-hypouricemia-in-a-general-population-a-large-scale-cross-sectional-study-in-japan
#13
Masanari Kuwabara, Koichiro Niwa, Akira Ohtahara, Toshihiro Hamada, Satoshi Miyazaki, Einosuke Mizuta, Kazuhide Ogino, Ichiro Hisatome
BACKGROUNDS: Hypouricemia was reported as a risk factor for exercise-induced acute renal injury (EIAKI) and urinary stones. However, the prevalence of kidney diseases among hypouricemic subjects has not been evaluated. This study was conducted to clarify the prevalence of hypouricemia and the association of hypouricemia with kidney diseases by using a large-scale Japanese population data. METHODS: This study is a retrospective cross-sectional study at the Center for Preventive Medicine, St...
2017: PloS One
https://www.readbyqxmd.com/read/28442646/clinico-pathological-findings-in-a-striped-dolphin-stenella-coeruleoalba-affected-by-rhabdomyolysis-and-myoglobinuric-nephrosis-capture-myopathy
#14
Federico Bonsembiante, Cinzia Centelleghe, Gabriele Rossi, Stefania Giglio, Elena Madeo, Maria Elena Gelain, Sandro Mazzariol
A striped dolphin (Stenella coeruleoalba) calf stranded alive because of a Salter-Harris fracture type 1 of a caudal vertebra and remained in a provisional rehabilitation facility for 3 days where the fracture stabilization was attempted, but he died the day after bandaging. Serum and urine samples were collected during hospitalization (days 1, 2 and 3 serum and day 2 urine). Serum analysis showed increased urea, alanine transaminase, aspartate transaminase, and serum amyloid A values, while creatinine was below the lower limit...
June 10, 2017: Journal of Veterinary Medical Science
https://www.readbyqxmd.com/read/28424276/thrombin-induced-podocyte-injury-is-protease-activated-receptor-dependent
#15
Ruchika Sharma, Amanda P Waller, Shipra Agrawal, Katelyn J Wolfgang, Hiep Luu, Khurrum Shahzad, Berend Isermann, William E Smoyer, Marvin T Nieman, Bryce A Kerlin
Nephrotic syndrome is characterized by massive proteinuria and injury of specialized glomerular epithelial cells called podocytes. Studies have shown that, whereas low-concentration thrombin may be cytoprotective, higher thrombin concentrations may contribute to podocyte injury. We and others have demonstrated that ex vivo plasma thrombin generation is enhanced during nephrosis, suggesting that thrombin may contribute to nephrotic progression. Moreover, nonspecific thrombin inhibition has been shown to decrease proteinuria in nephrotic animal models...
April 19, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28397515/prevalence-and-renal-pathology-of-pathogenic-i-leptospira-i-spp-in-wildlife-in-abeokuta-ogun-state-nigeria
#16
Olusola L Ajayi, Richard E Antia, Olufemi E Ojo, Olajoju J Awoyomi, Latifa A Oyinlola, Oluwabusola G Ojebiyi
There is paucity of information on the prevalence of leptospirosis in wildlife in Nigeria. This study investigated the prevalence and renal pathology of leptospirosis in wild animals in Southwest Nigeria. One hundred and five kidney samples were examined from 10 different wildlife species (antelope) greater cane rat (GCR), hare, African giant rat (AGR), tree hyrax, civet cat, monitor lizard, python, bushbuck and partridge) using a combination of Ellinghausen McCullough Johnson Harris (EMJH) medium, microscopic agglutination test (MAT), Warthin- Starry silver stain (WSss) and immunohistochemistry...
March 24, 2017: Onderstepoort Journal of Veterinary Research
https://www.readbyqxmd.com/read/28386663/a-child-with-phenylketonuria-and-focal-segmental-glomerulosclerosis-the-bright-side-of-proteinuria
#17
Fatma Rabah, Khalid Al-Thihli, Mohamed El-Naggari, Ibtisam B Elnour
Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism. Phenylalanine hydroxylase is the underlying deficient enzyme. If left untreated, growth failure, microcephaly, global developmental delay, seizures and severe intellectual impairment would characterize the clinical picture of PKU. On the other side of protein homeostasis lies nephrotic syndrome. It is a well-known quantitative defect due to significant proteinuria. Focal segmental glomerulosclerosis (FSGS) is a special congenital variant affecting children and adults...
August 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28255922/the-clinical-and-pathological-characteristics-of-nephropathies-in-connective-tissue-diseases-in-the-japan-renal-biopsy-registry-j-rbr
#18
Kazunobu Ichikawa, Tsuneo Konta, Hiroshi Sato, Yoshihiko Ueda, Hitoshi Yokoyama
BACKGROUND: In connective tissue diseases, a wide variety of glomerular, tubulointerstitial, and vascular lesions of the kidney are observed. Nonetheless, recent information is limited regarding renal lesions in connective tissue diseases, except in systemic lupus erythematosus (SLE). METHODS: In this study, we used a nationwide database of biopsy-confirmed renal diseases in Japan (J-RBR) (UMIN000000618). In total, 20,523 registered patients underwent biopsy between 2007 and 2013; from 110 patients with connective tissue diseases except SLE, we extracted data regarding the clinico-pathological characteristics of the renal biopsy...
March 2, 2017: Clinical and Experimental Nephrology
https://www.readbyqxmd.com/read/28228401/wolf-hirschhorn-syndrome-candidate-1-like-1-epigenetically-regulates-nephrin-gene-expression
#19
Yugo Ito, Kan Katayama, Yukino Nishibori, Yoshihiro Akimoto, Akihiko Kudo, Ryota Kurayama, Ichiro Hada, Shohei Takahashi, Toru Kimura, Toshiyuki Fukutomi, Tomohisa Katada, Junichi Suehiro, Olga Beltcheva, Karl Tryggvason, Kunimasa Yan
Altered expression of nephrin underlies the pathophysiology of proteinuria in both congenital and acquired nephrotic syndrome. However, the epigenetic mechanisms of nephrin gene regulation remain elusive. Here, we show that Wolf-Hirschhorn syndrome candidate 1-like 1 long form (WHSC1L1-L) is a novel epigenetic modifier of nephrin gene regulation. WHSC1L1-L was associated with histone H3K4 and H3K36 in human embryonic kidney cells. WHSC1L1-L gene was expressed in the podocytes, and functional protein product was detected in these cells...
June 1, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/28224456/zinc-toxicosis-in-a-boxer-dog-secondary-to-ingestion-of-holiday-garland
#20
Karyn Bischoff, Anne Chiapella, Jaime Weisman, Lisa M Crofton, Joseph Hillebrandt
INTRODUCTION: Increased admissions occur in small animal veterinary emergency clinics during some holidays, and some of the increased caseload is due to ingestion of toxic substances. This report documents zinc toxicosis contributing to the death of a dog after ingestion of holiday tinsel garland. CASE STUDY: A mature boxer dog presented with a 4-day history of vomiting and diarrhea. Radiodense foreign material was detected in the stomach and removed via gastrotomy...
February 21, 2017: Journal of Medical Toxicology: Official Journal of the American College of Medical Toxicology
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