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https://www.readbyqxmd.com/read/29773874/mutations-in-six-nephrosis-genes-delineate-a-pathogenic-pathway-amenable-to-treatment
#1
Shazia Ashraf, Hiroki Kudo, Jia Rao, Atsuo Kikuchi, Eugen Widmeier, Jennifer A Lawson, Weizhen Tan, Tobias Hermle, Jillian K Warejko, Shirlee Shril, Merlin Airik, Tilman Jobst-Schwan, Svjetlana Lovric, Daniela A Braun, Heon Yung Gee, David Schapiro, Amar J Majmundar, Carolin E Sadowski, Werner L Pabst, Ankana Daga, Amelie T van der Ven, Johanna M Schmidt, Boon Chuan Low, Anjali Bansal Gupta, Brajendra K Tripathi, Jenny Wong, Kirk Campbell, Kay Metcalfe, Denny Schanze, Tetsuya Niihori, Hiroshi Kaito, Kandai Nozu, Hiroyasu Tsukaguchi, Ryojiro Tanaka, Kiyoshi Hamahira, Yasuko Kobayashi, Takumi Takizawa, Ryo Funayama, Keiko Nakayama, Yoko Aoki, Naonori Kumagai, Kazumoto Iijima, Henry Fehrenbach, Jameela A Kari, Sherif El Desoky, Sawsan Jalalah, Radovan Bogdanovic, Nataša Stajić, Hildegard Zappel, Assel Rakhmetova, Sharon-Rose Wassmer, Therese Jungraithmayr, Juergen Strehlau, Aravind Selvin Kumar, Arvind Bagga, Neveen A Soliman, Shrikant M Mane, Lewis Kaufman, Douglas R Lowy, Mohamad A Jairajpuri, Richard P Lifton, York Pei, Martin Zenker, Shigeo Kure, Friedhelm Hildebrandt
No efficient treatment exists for nephrotic syndrome (NS), a frequent cause of chronic kidney disease. Here we show mutations in six different genes (MAGI2, TNS2, DLC1, CDK20, ITSN1, ITSN2) as causing NS in 17 families with partially treatment-sensitive NS (pTSNS). These proteins interact and we delineate their roles in Rho-like small GTPase (RLSG) activity, and demonstrate deficiency for mutants of pTSNS patients. We find that CDK20 regulates DLC1. Knockdown of MAGI2, DLC1, or CDK20 in cultured podocytes reduces migration rate...
May 17, 2018: Nature Communications
https://www.readbyqxmd.com/read/29691854/necropsy-findings-of-koalas-from-the-mount-lofty-ranges-population-in-south-australia
#2
K N Speight, P Hicks, C Graham, W Boardman, W G Breed, E Manthorpe, O Funnell, L Woolford
OBJECTIVE: This study reports necropsy findings of koalas from the Mount Lofty Ranges region in order to identify health threats to this mainland South Australian population. METHODS: Koalas from the Mount Lofty Ranges region (n = 85) that had died or been euthanased on welfare grounds were examined at necropsy during 2012-13 at the School of Animal and Veterinary Sciences, University of Adelaide. Disease findings, approximate age, sex and body condition of koalas were recorded...
May 2018: Australian Veterinary Journal
https://www.readbyqxmd.com/read/29662777/herbal-fufang-xian-ling-gu-bao-prevents-corticosteroid-induced-osteonecrosis-of-the-femoral-head-a-first-multicentre-randomised-double-blind-placebo-controlled-clinical-trial
#3
Zi-Rong Li, Li-Ming Cheng, Kun-Zheng Wang, Nan-Ping Yang, Shu-Hua Yang, Wei He, Yi-Sheng Wang, Zhong-Ming Wang, Pei Yang, Xian-Zhe Liu, Yue-Zhong Luo, Wei Sun, Hai-Tao Wang, Li-Zhen Zheng, Xin-Luan Wang, Ling Qin
Background/Objective: This is a multicentre, randomised, double-blind, placebo-controlled clinical trial to investigate the safety and efficacy of Chinese herbal Fufang Xian Ling Gu Bao (XLGB) with antiadipogenic compounds for the prevention of corticosteroid (CS)-induced osteonecrosis of femoral head (ONFH). Methods: Patients of both genders, aged between 18 and 65 years, with diseases such as systemic lupus erythematosus, nephrosis, dermatosis and rheumatoid arthritis indicated for CS treatment and who did not show magnetic resonance imaging of ONFH at baseline were recruited into the study and then randomised into either XLGB group (n = 129) with daily oral administration of XLGB or placebo group (n = 146)...
January 2018: Journal of Orthopaedic Translation
https://www.readbyqxmd.com/read/29567961/rac1-in-podocytes-promotes-glomerular-repair-and-limits-the-formation-of-sclerosis
#4
Rin Asao, Takuto Seki, Miyuki Takagi, Hiroyuki Yamada, Fumiko Kodama, Yoshiko Hosoe-Nagai, Eriko Tanaka, Juan Alejandro Oliva Trejo, Kanae Yamamoto-Nonaka, Yu Sasaki, Teruo Hidaka, Takashi Ueno, Motoko Yanagita, Yusuke Suzuki, Yasuhiko Tomino, Katsuhiko Asanuma
Rac1, a Rho family member, is ubiquitously expressed and participates in various biological processes. Rac1 expression is induced early in podocyte injury, but its role in repair is unclear. To investigate the role of Rac1 expression in podocytes under pathological conditions, we used podocyte-specific Rac1 conditional knock-out (cKO) mice administered adriamycin (ADR), which causes nephrosis and glomerulosclerosis. Larger areas of detached podocytes, more adhesion of the GBM to Bowman's capsule, and a higher ratio of sclerotic glomeruli were observed in Rac1 cKO mice than in control mice, whereas no differences were observed in glomerular podocyte numbers in both groups after ADR treatment...
March 22, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29507821/gender-associated-factors-for-frailty-and-their-impact-on-hospitalization-and-mortality-among-community-dwelling-older-adults-a-cross-sectional-population-based-study
#5
Qin Zhang, Huanyu Guo, Haifeng Gu, Xiaohong Zhao
Background: Frailty associated with aging increases the risk of falls, disability, and death. We investigated gender-associated factors for frailty. Methods: Data of 3,079 geriatric subjects were retrieved from the National Health and Nutrition Examination Survey (NHANES) 2007-2010 database. After excluding 1,126 subjects with missing data on frailty, medical history and survival, data of 1,953 patients were analyzed. Main endpoints were frailty prevalence, mortality rates and causes of death...
2018: PeerJ
https://www.readbyqxmd.com/read/29480234/computed-tomography-angiography-with-3d-reconstruction-in-diagnosis-of-hydronephrosis-cause-by-aberrant-renal-vessel-a-case-report-and-mini-review
#6
Yunfeng He, Shenjun Luo, Xiaohou Wu, Haitao Yang, Bruce B Zhang, Michael Bleyer, Gang Chen
BACKGROUND: Congenital hydronephrosis is often caused by aberrant renal vessel and it is difficult to be diagnosed and treated at the early stage due to lack of the significant symptoms. Although current medical diagnosis tools are widely used, the aberrant renal vessel cannot be displayed very well in the images. OBJECTIVE: To investigate whether applying computed tomography (CT) angiography with 3D reconstruction can improve efficacy in diagnose of this congenital hydronephrosis...
2018: Journal of X-ray Science and Technology
https://www.readbyqxmd.com/read/29457121/anesthesia-for-patients-with-ptrf-mutations-a-case-report
#7
Atsuko Hirano, Tomohiko Takada, Mariko Senda, Hidemasa Takahashi, Takeo Suzuki
Background: Polymeraze I and transcript release factor ( PTRF ) mutations are a newly recognized disease, which cause congenital generalized lipodystrophy associated with myopathy. Case presentation: A 29-year-old man (height 126 cm; weight 22 kg) with a PTRF mutation was scheduled for mandibular dentigerous cystectomy. His primary symptoms were lipodystrophy, myopathy, long QT syndrome, refractory nephrosis, and abnormal lipid metabolism. Defibrillator pads were applied soon after the patient entered the operating room...
2018: JA Clinical Reports
https://www.readbyqxmd.com/read/29396252/glycated-albumin-and-the-risk-of-chronic-kidney-disease-in-subjects-with-type-2-diabetes-a-study-in-north-indian-population
#8
Alok Raghav, Jamal Ahmad, Saba Noor, Khursheed Alam, Brijesh Kumar Mishra
AIM: Glycated albumin (GA) suggested being alternative glycemic marker than haemoglobin A1C (HbA1c) in patients with chronic kidney diseases (CKD). We investigated the association between GA and the progression of diabetic nephropathy (DN) in T2DM subjects. METHODS: We recruited T2DM subjects with different stages of CKD who had regularly measured serum creatinine and estimated glomerular filtration rates (eGFR) according to Kidney Disease Outcomes Quality Initiative (KDOQI) guidelines, HbA1c consecutively every 3 months along with GA levels and other anthropometric and demographic measurements...
January 31, 2018: Diabetes & Metabolic Syndrome
https://www.readbyqxmd.com/read/29394927/quantification-of-cancer-risk-in-glomerulonephritis
#9
James Goya Heaf, Alastair Hansen, Gunnar Hellmund Laier
BACKGROUND: The association of increased cancer risk with glomerulonephritis (GN) is well known, but controversy exists concerning which types of GN are involved, and the size of the association. A national registry survey was performed to assess the size of this association, and the temporal relationship of cancer diagnosis to GN diagnosis. METHODS: All patients with biopsy-proven GN between 1985 and 2015 in Denmark were extracted from The Danish Renal Biopsy Registry and the National Pathology Data Bank...
February 2, 2018: BMC Nephrology
https://www.readbyqxmd.com/read/29386451/-recent-trends-of-trace-element-studies-in-clinical-medicine-in-japan
#10
REVIEW
Hiroko Kodama
The deficiency or excess intake of trace elements, including zinc, copper, selenium and iodine, has often been reported. Zinc deficiency is often observed in infants fed breast milk with low zinc concentration, individuals administered chelating medicines, athletes and patients with diabetes mellitus, hepatic cirrhosis or nephrosis syndrome. Menkes disease is associated with severe copper deficiency, and there is no effective treatment. Deficiencies of selenium and iodine are observed in patients who receive special formulas of milk and enteral formula with low selenium and iodine concentrations, respectively...
2018: Nihon Eiseigaku Zasshi. Japanese Journal of Hygiene
https://www.readbyqxmd.com/read/29378781/the-role-of-lipoprotein-a-in-chronic-kidney-disease
#11
Jemma C Hopewell, Richard Haynes, Colin Baigent
Lipoprotein (a) [Lp(a)] and its measurement, structure and function, the impact of ethnicity and environmental factors, epidemiological and genetic associations with vascular disease, and new prospects in drug development have been extensively examined throughout this Thematic Review Series on Lp(a). Studies suggest that the kidney has a role in Lp(a) catabolism, and that Lp(a) levels are increased in association with kidney disease only for people with large apo(a) isoforms. By contrast, in those patients with large protein losses, as in the nephrotic syndrome and continuous ambulatory peritoneal dialysis, Lp(a) is increased irrespective of apo(a) isoform size...
April 2018: Journal of Lipid Research
https://www.readbyqxmd.com/read/29360807/anti-proteinuric-effect-of-an-endothelin-1-receptor-antagonist-in-puromycin-aminonucleoside-induced-nephrosis-in-rat
#12
Jiro Kino, Shoji Tsuji, Tetsuya Kitao, Yuko Akagawa, Sohsaku Yamanouchi, Takahisa Kimata, Kazunari Kaneko
BACKGROUND: The pathogenesis of idiopathic nephrotic syndrome (INS) remains unclear although recent studies suggest endothelin 1 (ET-1) and CD80 of podocytes are involved. We investigated the potential of antagonist to ET-1 receptor type A (ETRA) as therapeutic agent through suppression of CD80 in rat model of INS. METHODS: Puromycin aminonucleoside (PAN) was injected to Wister rats to induce proteinuria: some were treated with ETRA antagonist and others were treated with 0...
January 23, 2018: Pediatric Research
https://www.readbyqxmd.com/read/29351075/pathological-and-molecular-studies-of-the-renal-trematode-paratanaisia-bragai-in-indian-peafowls-pavo-cristatus
#13
M Asok Kumar, Deepak Kumar, Munuswamy Palanivelu, Latchumikanthan Annamalai, Karikalan Mathesh, Rajendra Singh, Anil Kumar Sharma, Kuldeep Dhama
Endoparasitic diseases are commonly encountered in free-ranging birds. Although not all endoparasites cause disease, persistent infection with large numbers of parasites almost always affects normal physiological functions, leading to deleterious effects on the host. This paper describes the anatomopathological alterations caused by the renal trematode Paratanaisia bragai in Indian peafowl (n = 3) and examines the phylogeny of these and related parasites. Peafowl from forests in and around the Bareilly region, Uttar Pradesh, India, were necropsied, and microscopic and molecular investigations were performed...
March 26, 2018: Acta Parasitologica
https://www.readbyqxmd.com/read/29250660/the-relationship-between-glomerular-function-and-podocyte-structure-of-pre-proteinuria-and-acute-nephrosis-in-puromycin-aminonucleoside-induced-rat-models-a-comparative-electron-microscopic-study
#14
İsmail Seçkin, Mümin Uzunalan, Meltem Pekpak, Sibel Köktürk, Hüseyin Avni Sönmez, Zeynep Banu Güngör, Özgür Doğuş Demirkiran, Halil İbrahim Saygi, Elif Yaprak Saraç
Puromycin aminonucleoside (PA) has been generally utilized as model of podocyte injury followed by massive proteinuria, severe damage on endocytotic activity of epithelial cells and postmodification of endocytosed compounds. However, total PA nephrosis (PAN) mechanism cannot be understood. We aimed to study glomerular function, foot process degeneration and transport pathways of podocytes in pre-proteinuria and acute PAN rats. Eighteen male Wistar albino rats were divided into three groups: control, pre-proteinuria and acute nephrosis groups (n=6)...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/29235984/deaths-leading-causes-for-2015
#15
Melonie Heron
Objectives-This report presents final 2015 data on the 10 leading causes of death in the United States by age, sex, race, and Hispanic origin. Leading causes of infant, neonatal, and postneonatal death are also presented. This report supplements "Deaths: Final Data for 2015," the National Center for Health Statistics' annual report of final mortality statistics. Methods-Data in this report are based on information from all death certificates filed in the 50 states and the District of Columbia in 2015...
November 2017: National Vital Statistics Reports
https://www.readbyqxmd.com/read/29207771/aspects-of-evolving-genito-urinary-tuberculosis-a-profile-of-genito-urinary-tuberculosis-gutb-in-110-patients
#16
Sriram Krishnamoorthy, Velmurugan Palaniyandi, Natarajan Kumaresan, Sivasankar Govindaraju, Jayaganesh Rajasekaran, Ilangovan Murugappan, Venkat Ramanan, Muthulatha Navaneetha Krishnan
Introduction: Genito Urinary Tuberculosis (GUTB) is a widespread disease seen in urology practice. The true incidence and prevalence of GUTB is difficult to estimate because a large number of patients remain asymptomatic. Aim: To recognize typical and atypical clinical and radiological features of tuberculosis and to emphasize the need for diagnosing GUTB early. Materials and Methods: This was a retrospective study conducted in 110 cases of GUTB diagnosed and treated in two teaching institutions over a period of three years, from July 2002 to June 2005...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29185126/long-term-outcome-of-congenital-nephrotic-syndrome-after-kidney-transplantation-in-japan
#17
Yuko Hamasaki, Masaki Muramatsu, Riku Hamada, Kenji Ishikura, Hiroshi Hataya, Hiroyuki Satou, Masataka Honda, Koichi Nakanishi, Seiichiro Shishido
BACKGROUND: Congenital nephrotic syndrome is difficult to manage, particularly the Finnish type (CNF), with patients experiencing severe edema, sepsis and thrombosis before kidney transplantation. Further, nephrosis and thrombosis remain problematic after transplantation. METHODS: Of 22 CNF patients managed at our hospital, 14 who underwent kidney transplantation were retrospectively studied. CNF was diagnosed according to standard criteria. RESULTS: The study population consisted of 3 males and 11 females...
November 28, 2017: Clinical and Experimental Nephrology
https://www.readbyqxmd.com/read/29169714/-idiopathic-nephrotic-syndrome
#18
O Boyer, V Baudouin, E Bérard, C Dossier, V Audard, V Guigonis, I Vrillon
Nephrotic syndrome (NS) is defined by massive proteinuria and hypoalbuminemia, with resulting hyperlipidemia and edema. The most common cause of NS in children is idiopathic nephrotic syndrome (INS), also called nephrosis. Its annual incidence has been estimated to 1-4 per 100,000 children and varies with age, race, and geography. Many agents or conditions have been reported to be associated with INS such as infectious diseases, drugs, allergy, vaccinations, and malignancies. The disease may occur during the 1st year of life, but it usually starts between the ages of 2 and 7 years...
December 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29107825/atrazine-induced-environmental-nephrosis-was-mitigated-by-lycopene-via-modulating-nuclear-xenobiotic-receptors-mediated-response
#19
Jun Xia, Jia Lin, Xue-Nan Li, Cong Zhang, Nan Li, Zheng-Hai Du, Yan-Hua Li, Jin-Long Li
The burden and morbidity of environmental nephrosis is increasing globally. Atrazine (ATR) and degradation products in the environment are considered key determinants of nephrosis. However, the lack of highly effective treatments for environmental nephrosis creates an urgent need to better understand the preventive strategies and mechanisms. This study aimed to highlight the mechanism of ATR-induced environmental nephrosis and the chemoprotective potential of lycopene (LYC) against the renal injury and nephrosis...
January 2018: Journal of Nutritional Biochemistry
https://www.readbyqxmd.com/read/29032433/diffuse-mesangial-sclerosis-in-a-pdss2-mutation-induced-coenzyme-q10-deficiency
#20
Béla Iványi, Gábor Z Rácz, Péter Gál, Kitti Brinyiczki, István Bódi, Tibor Kalmár, Zoltán Maróti, Csaba Bereczki
BACKGROUND: A 7-month-old male infant was admitted because he was suffering from nephrotic syndrome, along with encephalomyopathy, hypertrophic cardiomyopathy, clinically suspected deafness and retinitis pigmentosa, and an elevated serum lactate level. METHODS: Coenzyme Q10 supplementation was started because of the clinical suspicion of primary CoQ10 deficiency. Despite intensive efforts, he passed away 4 weeks after admission. RESULTS: The results of genetic tests, available postmortem, explored two hitherto undescribed mutations in the PDSS2 gene...
March 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
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