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https://www.readbyqxmd.com/read/28188379/a-novel-mutation-of-laminin-%C3%AE-2-lamb2-in-two-siblings-with-renal-failure
#1
Farah A Falix, Carlien A M Bennebroek, Bert van der Zwaag, Ruth Lapid-Gortzak, Sandrine Florquin, Michiel J S Oosterveld
: This report describes a novel mutation of LAMB2, the gene associated with Pierson syndrome (microcoria-congenital nephrosis syndrome), in two female siblings. The c.970T>C p.(Cys324Arg) mutation in the LAMB2 gene affects one of the eight highly conserved cysteine residues within the first EGF-like module of the laminin β2 protein. These residues form disulfide bonds in order to achieve a correct 3D structure of the protein. The reported phenotype is considered a relatively mild variant of Pierson syndrome and is associated with later-onset (18 months) therapy-resistant nephrotic syndrome leading to renal failure, and ocular abnormalities consisting of high myopia, microcoria, diverse retinal abnormalities, hence a low level of visual acuity...
February 10, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/28165339/mutations-in-sphingosine-1-phosphase-lyase-cause-nephrosis-with-ichthyosis-and-adrenal-insufficiency
#2
Svjetlana Lovric, Sara Goncalves, Heon Yung Gee, Babak Oskouian, Honnappa Srinivas, Won-Il Choi, Shirlee Shril, Shazia Ashraf, Weizhen Tan, Jia Rao, Merlin Airik, David Schapiro, Daniela A Braun, Carolin E Sadowski, Eugen Widmeier, Tilman Jobst-Schwan, Johanna Magdalena Schmidt, Vladimir Girik, Guido Capitani, Jung H Suh, Noëlle Lachaussée, Christelle Arrondel, Julie Patat, Olivier Gribouval, Monica Furlano, Olivia Boyer, Alain Schmitt, Vincent Vuiblet, Seema Hashmi, Rainer Wilcken, Francois P Bernier, A Micheil Innes, Jillian S Parboosingh, Ryan E Lamont, Julian P Midgley, Nicola Wright, Jacek Majewski, Martin Zenker, Franz Schaefer, Navina Kuss, Johann Greil, Thomas Giese, Klaus Schwarz, Vilain Catheline, Denny Schanze, Ingolf Franke, Yves Sznajer, Anne S Truant, Brigitte Adams, Julie Désir, Ronald Biemann, York Pei, Elisabet Ars, Nuria Lloberas, Alvaro Madrid, Vikas R Dharnidharka, Anne M Connolly, Marcia C Willing, Megan A Cooper, Richard P Lifton, Matias Simons, Howard Riezman, Corinne Antignac, Julie D Saba, Friedhelm Hildebrandt
Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease cases. A mutation in 1 of over 40 monogenic genes can be detected in approximately 30% of individuals with SRNS whose symptoms manifest before 25 years of age. However, in many patients, the genetic etiology remains unknown. Here, we have performed whole exome sequencing to identify recessive causes of SRNS. In 7 families with SRNS and facultative ichthyosis, adrenal insufficiency, immunodeficiency, and neurological defects, we identified 9 different recessive mutations in SGPL1, which encodes sphingosine-1-phosphate (S1P) lyase...
February 6, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28115067/ajkd-atlas-of-renal-pathology-bile-nephrosis
#3
Mark A Lusco, Agnes B Fogo, Behzad Najafian, Charles E Alpers
No abstract text is available yet for this article.
February 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/28041953/synthetic-approaches-towards-the-multi-target-drug-spironolactone-and-its-potent-analogues-derivatives
#4
REVIEW
Fayaz Ali Larik, Aamer Saeed, Danish Shahzad, Muhammad Faisal, Hesham El-Seedi, Haroon Mehfooz, Pervaiz Ali Channar
Spironolactone is a well-known multi-target drug and is specifically used for the treatment of high blood pressure and heart failure. It is also used for the treatment of edema, cirrhosis of the liver, malignant, pediatric, nephrosis and primary hyperaldosteronism. Spironolactone in association with thiazide diuretics treats hypertension and in association with furosemide treats bronchopulmonary dyspepsia. The therapeutic mechanism of action of spironolactone involves binding to intracellular mineralocorticoids receptors (MRs) in kidney epithelial cells, thereby inhibiting the binding of aldosterone...
December 29, 2016: Steroids
https://www.readbyqxmd.com/read/28010795/50-years-ago-in-the-journal-of-pediatrics-pituitary-adrenal-responsiveness-after-corticosteroid-therapy-in-children-with-nephrosis
#5
Sharon P Andreoli
No abstract text is available yet for this article.
January 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/27882743/congenital-nephrotic-syndrome-with-a-novel-nphs1-mutation
#6
Chikage Yoshizawa, Yasuko Kobayashi, Yuka Ikeuchi, Masahiko Tashiro, Satoko Kakegawa, Toshio Watanabe, Yoshimitsu Goto, Koichi Nakanishi, Norishige Yoshikawa, Hirokazu Arakawa
Congenital nephrotic syndrome of the Finnish type (CNF) is a rare autosomal recessive disorder. The incidence of CNF is relatively high in Finland but considerably lower in other countries. We encountered a male newborn with CNF, associated with compound heterozygous mutations in nephrosis 1, congenital, Finnish type (NPHS1). The patient was admitted to hospital as a preterm infant. Physical and laboratory findings fulfilled the diagnostic criteria of nephrotic syndrome, and were compatible with a diagnosis of CNF, but there was no family history of the disease...
November 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/27867342/the-family-of-crumbs-genes-and-human-disease
#7
REVIEW
Anne M Slavotinek
The family of vertebrate Crumbs proteins, homologous to Drosophila Crumbs (Crb), share large extracellular domains with epidermal growth factor-like repeats and laminin-globular domains, a single transmembrane domain, and a short intracellular C-terminus containing a single membrane proximal 4.1/ezrin/radixin/moesin-binding domain and PSD-95/Discs large/ZO-1-binding motifs. There are 3 Crb genes in humans - Crumbs homolog-1 (CRB1), Crumbs homolog-2 (CRB2), and Crumbs homolog-3 (CRB3). Bilallelic loss-of-function mutations in CRB1 cause visual impairment, with Leber's congenital amaurosis and retinitis pigmentosa, whereas CRB2 mutations are associated with raised maternal serum and amniotic fluid alpha feto-protein levels, ventriculomegaly/hydrocephalus, and renal disease, ranging from focal segmental glomerulosclerosis to congenital Finnish nephrosis...
October 2016: Molecular Syndromology
https://www.readbyqxmd.com/read/27787883/hyperosmolarity-induces-armanni-ebstein-like-renal-tubular-epithelial-swelling-and-cytoplasmic-vacuolization
#8
Chong Zhou, Robert Vink, Roger W Byard
Armanni-Ebstein lesions have been considered pathognomonic for diabetes mellitus and appear as markedly swollen renal tubular epithelial cells with cytoplasmic clearing and glycogen accumulation. However, the extent to which hyperosmolarity contributes to the Armanni-Ebstein phenotype is unclear. Ten sheep were injected intravenously with 20% mannitol at 11 mOsm/kg, and subsequent histological evaluation of the kidneys showed variable degrees of osmotic nephrosis and cytoplasmic clearing of renal tubular epithelial cells similar to that seen with Armanni-Ebstein lesions...
January 2017: Journal of Forensic Sciences
https://www.readbyqxmd.com/read/27719329/abcb1-polymorphisms-and-steroid-treatment-in-children-with-idiopathic-nephrotic-syndrome
#9
Manal A Safan, Nesreen G Elhelbawy, Dina A Midan, Heba F Khader
BACKGROUND: The most common cause of nephrotic syndrome (NS) is idiopathic nephrotic syndrome (INS), also called nephrosis. Although most patients respond to steroid therapy, there is unequal response to treatment suggesting the involvement of genetic factors. The current study was conducted to evaluate the influence of two single nucleotide polymorphisms (SNPs) in ABCB1 (C3435T and C1236T) on the steroid treatment response in INS children. MATERIALS AND METHODS: Genotyping of ABCB1 C3435T and C1236T polymorphisms by real time PCR were conducted on 120 INS children, 80 steroid sensitive (SS) and 40 steroid resistant (SR)...
October 8, 2016: British Journal of Biomedical Science
https://www.readbyqxmd.com/read/27706571/effects-of-shenkangling-intervention-on-the-mapk-pathway-in-rats-with-doxorubicin-induced-nephropathy
#10
S Ai, Y Y Lin, J Zheng, C X Qiu, Y J Liu, X Lin
Shenkangling plays a role of Yishenhuoxue effect for the treatment of children with nephrotic syndrome. The aim of this study was to investigate the effects of Shenkangling intervention on the mitogen-activated protein kinase (MAPK) pathway in rats with Adriamycin-induced nephropathy (AN) and its underlying mechanism of action. Nephrosis was induced in healthy Sprague-Dawley rats by doxorubicin and the rats were untreated or treated with prednisone, simvastatin, Shenkangling, or a combination thereof. Using real-time PCR, the mRNA expression levels of Chemokine (C-X-C motif) ligand 16 (CXCL16), A Disintegrin and metalloproteinase domain-containing protein 10 (ADAM10), and ADAM17 in the renal tissues of these rats were found to be decreased by the various treatments compared to those in the untreated doxorubicin-induced nephrosis rats...
August 19, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27687020/long-term-systemic-lupus-erythematosus-disease-control-after-allogeneic-bone-marrow-transplantation
#11
D E Gladstone, M Petri, J Bolaños-Meade, A E Dezern, R J Jones, D Fine, R A Brodsky
Systemic lupus erythematosus (SLE), a disorder of the immune system, is potentially curable by allogeneic bone marrow transplantation (alloBMT). Until recently, alloBMT was limited by donor availability and toxicity. Reduced intensity conditioning (RIC) combined with post-transplantation cyclophosphamide (PTCy) has improved the availability and safety of alloBMT permitting its exploration in severe-refractory autoimmune illnesses. We report the six-year follow-up of a young female whose refractory SLE-associated nephrosis resolved after RIC alloBMT with PTCy...
September 29, 2016: Lupus
https://www.readbyqxmd.com/read/27661054/the-effects-of-cyp2c19-genotype-on-the-susceptibility-for-nephrosis-in-cardio-cerebral-vascular-disease-treated-by-anticoagulation
#12
Kai Chang, Zhongyong Jiang, Chenxia Liu, Junlong Ren, Ting Wang, Jie Xiong
In recent years, the genetic factor has become one of the important predisposing factors of nephropathy susceptibility. There is a high incidence of nephropathy in CCVd. The CYP2C19 enzyme metabolizes most the drugs, including proton pump inhibitors commonly used medicines to treat CCVd, CYP2C19 genetic polymorphisms is association with multi-pathogenesis factors of nephropathy. The purpose of the study is to reveal the association between CYP2C19 genotype and the susceptibility of nephropathy in the CCVd patients...
September 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27608775/raman-based-detection-of-hydroxyethyl-starch-in-kidney-allograft-biopsies-as-a-potential-marker-of-allograft-quality-in-kidney-transplant-recipients
#13
Vincent Vuiblet, Michael Fere, Ezechiel Bankole, Alain Wynckel, Cyril Gobinet, Philippe Birembaut, Olivier Piot, Philippe Rieu
In brain-dead donor resuscitation, hydroxyethyl starch (HES) use has been associated with presence of osmotic-nephrosis-like lesions in kidney transplant recipients. Our aim was to determine whether the presence of HES in protocol renal graft biopsies at three months (M3) after transplantation is associated with renal graft quality. According to the HES administered to the donor during the procurement procedure, two groups of patients were defined according graft exposition to HES: HES group, (N = 20) and control group (N = 6)...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27591087/angiotensin-converting-enzyme-inhibition-restores-glomerular-glycosaminoglycans-in-rat-puromycin-nephrosis
#14
Michal Herman-Edelstein, Avry Chagnac, Zvi Nevo, Ehud Skutelsky, Yoav Evron, Yehudit Hirsch, Lya Ben-Dor, Idit Schwartz, Doron Schwartz, Talia Weinstein
BACKGROUND: Aberrant glomerular polyanionic charge of glycosaminoglycans (GAGs) and sialic acid expression has been observed in proteinuric human and experimental glomerular diseases. Angiotensin-converting enzyme inhibitors (ACEI) lower proteinuria and amend renal function deterioration via hemodynamic mechanisms. We tested the hypothesis that ACEI modulate proteinuria additionally by modifying glomerular GAGs. METHODS: In this study, we explored the effects of the ACEI enalapril on proteinuria and GAG synthesis in puromycin aminonucleoside (PAN)-treated rats...
November 2016: Experimental and Toxicologic Pathology: Official Journal of the Gesellschaft Für Toxikologische Pathologie
https://www.readbyqxmd.com/read/27529846/antioxidative-stress-effects-of-salvia-przewalskii-extract-in-experimentally-injured-podocytes
#15
Xiang Liu, Yun Liu, Yang Yang, Jiadai Xu, Deshu Dai, Chao Yan, Xiangyang Li, Renxian Tang, Chen Yu, Hongqi Ren
BACKGROUND: Oxidative stress is a leading cause of puromycin aminonucleoside (PAN)-induced nephrosis. As the inhibition of oxidative stress may improve injury of podocyte, we aimed at examining the effect of total phenolic acid extract of Salvia przewalskii (SPE) on PAN-induced oxidative stress in vivo and in vitro. METHODS: Seventy-two male Sprague-Dawley rats were randomly assigned into 6 groups (n = 12), PAN alone, tacrolimus (TAC), SPE (50, 100 and 200 mg/kg) and normal control group...
2016: Nephron
https://www.readbyqxmd.com/read/27486341/human-serum-albumin-homeostasis-a-new-look-at-the-roles-of-synthesis-catabolism-renal-and-gastrointestinal-excretion-and-the-clinical-value-of-serum-albumin-measurements
#16
REVIEW
David G Levitt, Michael D Levitt
Serum albumin concentration (CP) is a remarkably strong prognostic indicator of morbidity and mortality in both sick and seemingly healthy subjects. Surprisingly, the specifics of the pathophysiology underlying the relationship between CP and ill-health are poorly understood. This review provides a summary that is not previously available in the literature, concerning how synthesis, catabolism, and renal and gastrointestinal clearance of albumin interact to bring about albumin homeostasis, with a focus on the clinical factors that influence this homeostasis...
2016: International Journal of General Medicine
https://www.readbyqxmd.com/read/27356389/-protective-effects-of-different-extracts-of-imperatae-rhizoma-in-rats-with-adriamycin-nephrosis-and-influence-on-expression-of-tgf-%C3%AE-1-and-nf-%C3%AE%C2%BAb-p65
#17
Lan-ying Chen, Zuo Chen, Chang-qin Wang, Yao Luo, Yuan-hong Luo, Meng Duan, Rong-hua Liu
OBJECTIVE: To study the protective effect of Imperatae Rhizoma extract on renal tissues in rats with Adriamycin nephrosis, and to explore the possible mechanism. METHODS: The nephrosis model was induced by adriamycin 6.5 mg/kg intravenously in rats. The rats were randomly divided into seven groups, including normal group, model group, predisone group, petroleum ether groups, ethyl acetate group ,alcohol group, and water parts group, and treated for eight weeks. The protein content of 24 hours urine excretion was tested respectively by automatic biochemistry analyzer each week...
November 2015: Zhong Yao Cai, Zhongyaocai, Journal of Chinese Medicinal Materials
https://www.readbyqxmd.com/read/27355245/mortality-among-military-participants-at-the-1957-plumbbob-nuclear-weapons-test-series-and-from-leukemia-among-participants-at-the-smoky-test
#18
Glyn G Caldwell, Matthew M Zack, Michael T Mumma, Henry Falk, Clark W Heath, John E Till, Heidi Chen, John D Boice
Health effects following low doses of ionizing radiation are uncertain. Military veterans at the Nevada test site (NTS) during the SMOKY atmospheric nuclear weapons test in 1957 were reported to be at increased risk for leukemia in 1979, but this increase was not evaluated with respect to radiation dose. The SMOKY test was one of 30 tests in 1957 within the PLUMBBOB test series. These early studies led to public laws where atomic veterans could qualify for compensation for presumptive radiogenic diseases. A retrospective cohort study was conducted of 12219 veterans at the PLUMBBOB test series, including 3020 at the SMOKY nuclear test...
September 2016: Journal of Radiological Protection: Official Journal of the Society for Radiological Protection
https://www.readbyqxmd.com/read/27262935/-bile-salt-nephropathy-cholemic-nephrosis
#19
Maxime Leclerc, Antoine Lanot, Clémence Béchade, Cécile Le Naoures, François Comoz, Thierry Lobbedez
Bile cast nephropathy is a tubulo-interstitial nephropathy. Its diagnosis may be under-estimated. It develops in patients who have cholestatic jaundice, with high bilirubinemia. Bile salts are freely filtered through glomerulus. Under certain circumstances, it forms casts into the tubule and cause an acute tubular necrosis. The diagnosis evidence is histologic, but fulfilment of renal biopsy is often made difficult, because of the hemostatic abnormalities that patients with hepatocellular injury develop. The treatment is supportive and etiological...
November 2016: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/27240570/poisoning-of-sheep-by-vernonia-plantaginoides-less-hieron-in-uruguay
#20
Fernando Dutra, Agustin Romero, Carina Quinteros, Ruben Araújo, Carmen García Y Santos
Vernonia plantaginoides (Less.) Hieron, previously known as Vernonia squarrosa, is a rhizomatous subshrub with purple flowers that is prevalent in the natural grassland of Uruguay, Argentina, and southern Brazil. We report an outbreak of V. plantaginoides (yuyo moro) intoxication in sheep in Treinta y Tres Department, northeastern Uruguay. A total of 54 of 463 (12%) recently weaned lambs died 2-7 days after entering a natural pasture that had been invaded by sprouting V. plantaginoides The first cases were found dead...
July 2016: Journal of Veterinary Diagnostic Investigation
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