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https://www.readbyqxmd.com/read/28548312/vitamin-d-dependent-rickets-type-1b-25-hydroxylase-deficiency-a-rare-condition-or-a-misdiagnosed-condition
#1
Molin A, Wiedemann A, Demers N, Kaufmann M, Do Cao J, Mainard L, Dousset B, Journeau P, Abeguile G, Coudray N, Mittre H, Richard N, Weryha G, Sorlin A, Jones G, Kottler Ml, Feillet F
Vitamin D requires a two-step activation by hydroxylation: the first step is catalyzed by hepatic 25-hydroxylase (CYP2R1, 11p15.2), and the second one is catalyzed by renal 1α-hydroxylase (CYP27B1, 12q13.1), which produces the active hormonal form of 1,25-(OH)2 D. Mutations of CYP2R1 have been associated with Vitamin D-dependent rickets type 1B (VDDR1B), a very rare condition that has only been reported to affect 4 families to date. We describe 7 patients from two unrelated families who presented with homozygous loss-of-function mutations of CYP2R1...
May 26, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28548286/obesity-gets-on-your-renal-nerves
#2
EDITORIAL
Boye L Jensen
In the present issue of Acta Physiologica(1) , Khan et al. in their article "Improvement in baroreflex control of renal sympathetic nerve activity in obese Sprague-Dawley rats following immunosuppression" confirm that obesity-related hypertension involves resetting of the arterial baroreceptor to a state of less sensitivity and relate this mechanistically to inflammation-induced altered renal afferent nerve activity (1) . Pharmocological treatment with the calcineurin phosphatase inhibitor-type immunosuppressant tacrolimus attenuated inflammation, reversed, paradoxically, the hypertension and restored baroreceptor sensitivity similar to the effect of renal denervation...
May 26, 2017: Acta Physiologica
https://www.readbyqxmd.com/read/28548236/renal-functional-outcomes-in-patients-undergoing-percutaneous-cryoablation-or-partial-nephrectomy-for-a-solitary-renal-mass
#3
Ross J Mason, Thomas D Atwell, Christine Lohse, Bimal Bhindi, Adam Weisbrod, Stephen A Boorjian, Bradley C Leibovich, Grant D Schmit, R Houston Thompson
OBJECTIVES: To compare renal functional changes after percutaneous cryoablation (CA) or partial nephrectomy (PN). PATIENTS AND METHODS: Patients who underwent CA or PN for a solitary renal mass at a single institution were identified (2003-2013). Estimated glomerular filtration rates (eGFR) were calculated at baseline, discharge, and 3 months follow-up using the Chronic Kidney Disease Epidemiology Collaboration equation. Changes in renal function were compared between groups using 1:1 propensity score (PS) matching, adjustment for PS quintile, and inverse probability weighting (IPW)...
May 26, 2017: BJU International
https://www.readbyqxmd.com/read/28545169/plasma-cystatin-c-is-a-predictor-of-renal-dysfunction-aclf-and-mortality-in-patients-with-acutely-decompensated-liver-cirrhosis
#4
Daniel Markwardt, Lesca Holdt, Christian Steib, Andreas Benesic, Flemming Bendtsen, Mauro Bernardi, Richard Moreau, Daniel Teupser, Julia Wendon, Frederik Nevens, Jonel Trebicka, Elisabet Garcia, Marco Pavesi, Vicente Arroyo, Alexander L Gerbes
BACKGROUND: The development of acute-on-chronic liver failure (ACLF) in patients with liver cirrhosis is associated with high mortality rates. Renal failure is the most significant organ dysfunction that occurs in ACLF. So far there are no biomarkers predicting ACLF. AIM: To investigate whether Cystatin C (CysC) and neutrophil gelatinase-associated lipocalin (NGAL) can predict development of renal dysfunction (RD), hepatorenal syndrome (HRS), ACLF and mortality, respectively...
May 25, 2017: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/28544564/podocyte-activation-of-nlrp3-inflammasomes-contributes-to-the-development-of-proteinuria-in-lupus-nephritis
#5
Rong Fu, Chaohuan Guo, Shuang Wang, Yuefang Huang, Ou Jin, Haoqiang Hu, Jingxian Chen, Bihua Xu, Mianjing Zhou, Jijun Zhao, Sun-Sang J Sung, Hongyang Wang, Felicia Gaskin, Niansheng Yang, Shu-Man Fu
Objective Development of proteinuria in lupus nephritis (LN) is associated with podocyte dysfunction. The NLRP3 inflammasome has been implicated in the pathogenesis of LN. This study investigates whether NLRP3 inflammasome activation is involved in the development of podocyte injury in LN. Methods A fluorescence-labeled caspase-1 inhibitor probe was used to detect the activation of NLRP3 inflammasomes in podocytes in lupus-prone NZM2328 mice and in renal biopsies from LN patients. MCC950, a selective inhibitor of NLRP3, was used to treat NZM2328 mice...
May 23, 2017: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/28544543/acute-toll-like-receptor-4-activation-impairs-rat-renal-microvascular-autoregulatory-behaviour
#6
Justin P Van Beusecum, Shali Zhang, Anthony K Cook, Edward W Inscho
AIM: Little is known about how toll-like receptor 4 (TLR4) influences the renal microvasculature. We hypothesized that acute TLR4 stimulation with lipopolysaccharide (LPS) impairs afferent arteriole autoregulatory behaviour, partially through reactive oxygen species (ROS). METHODS: We assessed afferent arteriole autoregulatory behaviour after LPS treatment (1 mg kg(-1) ; i.p.) using the in vitro blood perfused juxtamedullary nephron preparation. Autoregulatory behaviour was assessed by measuring diameter responses to step-wise changes in renal perfusion pressure...
May 25, 2017: Acta Physiologica
https://www.readbyqxmd.com/read/28544435/solid-renal-masses-in-transplanted-allograft-kidneys-a-closer-look-at-the-epidemiology-and-management
#7
John J Griffith, Katherine A Amin, Nikhil Waingankar, Susan M Lerner, Veronica Delaney, Scott A Ames, Ketan Badani, Michael A Palese, Reza Mehrazin
The objective of this review is to explore the available literature on solid renal masses (SRM) in transplant allograft kidneys to better understand the epidemiology and management of these tumors. A literature review using PubMed was performed according to the PRISMA methodology. Fifty-six relevant studies were identified from 1988-2015. A total of 174 SRMs in 163 patients, were identified with a mean tumor size of 2.75 cm (0.5-9.0cm). Tumor histology was available in 164 (94.3%) tumors: clear cell renal cell carcinoma (RCC) (45...
May 19, 2017: American Journal of Transplantation
https://www.readbyqxmd.com/read/28544101/belatacept-combined-with-transient-calcineurin-inhibitor-therapy-prevents-rejection-and-promotes-improved-long-term-renal-allograft-function
#8
A B Adams, J Goldstein, C Garrett, R Zhang, R E Patzer, K A Newell, N A Turgeon, A S Chami, A Guasch, A D Kirk, S O Pastan, T C Pearson, C P Larsen
Belatacept, a T cell costimulation-blocker demonstrated superior renal function, lower cardiovascular risk, and improved graft/patient survival in renal transplant recipients. Despite the potential benefits, adoption of belatacept has been limited in part due to concerns regarding higher rates and grades of acute rejection in clinical trials. Since July 2011 we have utilized belatacept-based immunosuppression regimens in clinical practice. In this retrospective analysis of 745 patients undergoing renal transplantation at our center, we compared patients treated with belatacept (n=535) to a historical cohort receiving a tacrolimus-based protocol (n=205)...
May 23, 2017: American Journal of Transplantation
https://www.readbyqxmd.com/read/28544075/dual-kidney-transplant-techniques-a-systematic-review
#9
Annelise Cocco, Sara Shahrestani, Nicholas Cocco, Ahmer Hameed, Lawrence Yuen, Brendan Ryan, Wayne Hawthorne, Vincent Lam, Henry Pleass
BACKGROUND: Dual kidney transplantation (DKT) was developed in order to improve outcomes from transplantation of extended criteria donors (ECD). This paper examined which surgical techniques have been reported for DKT, and whether any technique had superior patient and graft survival. METHOD: Electronic databases were searched for published studies mapping to MESH terms: ''kidney or renal" AND "transplan*" AND "dual or double". Single case reports; studies of patients less than 18 years old; studies which did not describe the surgical technique; and studies that did not report patient or graft survival were excluded...
May 23, 2017: Clinical Transplantation
https://www.readbyqxmd.com/read/28543917/a-novel-pgm3-mutation-is-associated-with-a-severe-phenotype-of-bone-marrow-failure-severe-combined-immunodeficiency-skeletal-dysplasia-and-congenital-malformations
#10
Guillermo Pacheco-Cuéllar, Julie Gauthier, Valérie Désilets, Christian Lachance, Marlène Lemire-Girard, Françoise Rypens, Françoise Le Deist, Hélène Decaluwe, Michel Duval, Dorothée Bauron Dal Soglio, Victor Kokta, Élie Haddad, Philippe M Campeau
Congenital disorders of glycosylation (CDGs) affect multiple systems and present a broad spectrum of clinical features, often including skeletal dysplasia and exome sequencing has led to the identification of new CDG genes . Immune and skeletal phenotypes associated with mutations in PGM3, encoding a protein which converts N-acetyl-glucosamine-6-phosphate into N-acetyl-glucosamine-1-phosphate, were recently reported. Through exome sequencing, we identified a novel homozygous mutation (c.1219T > C; p...
May 22, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28543864/modulation-of-heme-oxygenase-1-expression-and-activity-affects-streptozotocin-induced-diabetic-nephropathy-in-rats
#11
Marwa A M Ali, Gehan H Heeba, Azza A K El-Sheikh
Heme oxygenase (HO)-1 has exhibited nephro-protective actions in different animal models; however, its full mechanistic potential in diabetic nephropathy (DN) has not yet been elucidated. Hence, the present study has been undertaken by inducing DN in rats using streptozotocin (50mg/kg i.p.), with or without either HO-1 inducer; hemin (HM; 40 μmol/kg, s.c.), or HO-1 blocker; zinc protoporphyrin-IX (ZnPP; 50 μmol/kg, i.p.), for one month. Compared to control, rats with DN suffered from hyperglycemia and hyperlipidemia, with signs of renal damage, as assessed by distortion in renal histopathological architecture and kidney function...
May 23, 2017: Fundamental & Clinical Pharmacology
https://www.readbyqxmd.com/read/28543737/conflict-when-making-decisions-about-dialysis-modality
#12
Nien-Hsin Chen, Yu-Ping Lin, Shu-Yuan Liang, Heng-Hsin Tung, Shiow-Luan Tsay, Tsae-Jyy Wang
AIMS AND OBJECTIVE: The two key aims of this study were to explore decisional conflict and its influencing factors on choosing dialysis modality in patients with end-stage renal diseases. The influencing factors investigated include demographics, pre-dialysis education, dialysis knowledge, decision self-efficacy, and social support. BACKGROUND: Making dialysis modality decisions can be challenging for patients with end-stage renal diseases; there are pros and cons to both haemodialysis and peritoneal dialysis...
May 25, 2017: Journal of Clinical Nursing
https://www.readbyqxmd.com/read/28543713/potential-protective-role-of-grainyhead-like-genes-in-the-development-of-clear-cell-renal-cell-carcinoma
#13
Magdalena Pawlak, Agnieszka Kikulska, Tomasz Wrzesinski, Tobias Rausch, Zbigniew Kwias, Bartek Wilczynski, Vladimir Benes, Joanna Wesoly, Tomasz Wilanowski
The involvement of Grainyhead-like (GRHL) transcription factors in various cancers is well documented. However, little is known about their role in clear cell renal cell carcinoma (ccRCC). We discovered that the expression of two of these factors - GRHL1 and GRHL2-is downregulated in ccRCC samples, and their expression is correlated with the expression of VHL gene. This suggests a functional link between the GRHL transcription factors and one of the best known tumor suppressors. Although the GRHL genes are not mutated in ccRCC, some of the single nucleotide polymorphisms in these genes may indicate an increased risk of ccRCC development and/or may allow to assess patients' prognoses and predict their responses to various forms of therapy...
May 23, 2017: Molecular Carcinogenesis
https://www.readbyqxmd.com/read/28543378/renal-transplantation-in-patients-with-pre-existing-hypogammaglobulinemia
#14
K P Lund, H Bruunsgaard, H V Marquart, S S Sørensen
Hypogammaglobulinemia is well-characterized as a common phenomenon after kidney transplantation. However, no reports of pre-existing hypogammaglobulinemia from kidney transplantation seem to be available. We have reviewed three patients who developed hypogammaglobulinemia prior to kidney transplantation, and all three were treated successfully with immunoglobulin-replacement therapy before and after kidney transplantation. The kidney grafts were functioning at follow-up 1.5 to 8 years (mean: 3.6 years) after transplantation, and there were no diagnosed episodes of clinical rejections and no severe infection complications post-transplantation...
May 22, 2017: Scandinavian Journal of Immunology
https://www.readbyqxmd.com/read/28543216/bridging-with-tirofiban-during-oral-antiplatelet-interruption-a-single-center-case-series-analysis-including-patients-on-hemodialysis
#15
Elizabeth A Walker, William E Dager
INTRODUCTION: Surgical patients requiring an interruption in dual-antiplatelet therapy (DAPT) within 6 months of cardiac stenting are at risk for thrombotic events. Bridging with short-acting intravenous antiplatelet agents has been proposed to minimize the risk of thrombotic and hemorrhagic complications. METHODS: This was a retrospective analysis of a tirofiban bridging strategy that did not use an initial bolus loading dose. Tirofiban infusions were initiated 24to 48 hours after the last oral antiplatelet dose at a rate of 0...
May 23, 2017: Pharmacotherapy
https://www.readbyqxmd.com/read/28543165/recognition-of-early-mortality-in-multiple-myeloma-by-a-prediction-matrix
#16
Howard Terebelo, Shankar Srinivasan, Mohit Narang, Rafat Abonour, Cristina Gasparetto, Kathleen Toomey, James W Hardin, Gail Larkins, Amani Kitali, Robert M Rifkin, Jatin J Shah
Early mortality (EM; death ≤ 6 months from diagnosis) has been reported in several newly diagnosed multiple myeloma (NDMM) trials. Before the era of novel agents, the incidence was 10%-14%. Causes of death included infections/pneumonia, renal failure, refractory disease, and cardiac events. Staging systems, such as the revised International Staging System (r-ISS), and prognostic factors including cytogenetics, lactate dehydrogenase levels, and myeloma-specific factors, are useful to assess overall prognosis; however, they cannot predict EM...
May 24, 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28542793/the-genetic-factors-contributing-to-the-development-of-wilm-s-tumor-and-their-clinical-utility-in-its-diagnosis-and-prognosis
#17
REVIEW
Afsane Bahrami, Marjan Joodi, Mina Maftooh, Gordon A Ferns, Mehrdad Ahmadi, Seyed Mahdi Hassanian, Amir Avan
Mutations in the Wilm's tumor 1 (WT1) gene are associated with a wide spectrum of renal manifestations, ultimately leading to end-stage kidney failure. There is an inadequate understanding of the molecular functions of WT1 in renal development, and this has limited the potential for therapeutic interventions in WT1-related diseases. In this review we discuss the existing data on the genetic and epigenetic abnormalities that have been described in WTs and their potential utility as biomarkers for risk stratification, prediction and prognosis in patients withWTs...
May 20, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28535732/duplex-ultrasound-surveillance-after-uncomplicated-endovascular-abdominal-aortic-aneurysm-repair
#18
Jacob S Schaeffer, Irina Shakhnovich, Kyle N Sieck, Kara J Kallies, Clark A Davis, Thomas H Cogbill
OBJECTIVES: Health-care costs and risks of radiation and intravenous contrast exposure challenge computed tomography angiography (CTA) as the standard surveillance method after endovascular abdominal aortic aneurysm repair (EVAR). We reviewed our experience using Duplex ultrasound scan (DUS) as an initial and subsequent surveillance technique after uncomplicated EVAR. METHODS: The medical records of patients who underwent EVAR from 2004 to 2014 with at least 1 postoperative imaging study were retrospectively reviewed...
January 1, 2017: Vascular and Endovascular Surgery
https://www.readbyqxmd.com/read/28523715/dual-en-bloc-technique-for-adult-renal-transplantation
#19
Kim Chi Tran, David Li, Ali Taqi, Alp Sener, Vivian C McAlister, Patrick P Luke
INTRODUCTION: We describe and provide follow-up for a novel simplified technique permitting dual en-bloc (DEB) transplantation of adult organs using single in situ arterial and venous anastomoses. METHODS: Twenty-two adult DEB transplants were performed at our centre between 2001 and 2012, utilizing 44 kidneys en bloc. Results were compared with 20 solitary transplants from expanded criteria donors (ECD) associated with lower terminal serum creatinines and Remuzzi biopsy scores vs...
May 19, 2017: Clinical Transplantation
https://www.readbyqxmd.com/read/28520084/renal-and-hematologic-side-effects-of-long-term-ivig-therapy-in-patients-with-neurologic-disorders
#20
Aidan A Levine, Todd D Levine, Kathie Clarke, David Saperstein
INTRODUCTION: For patients receiving intravenous immunoglobulin (IVIG), renal and hemolytic side effects are well recognized. However, there is very little data on the effects of chronic IVIG therapy. METHODS: We retrospectively analyzed laboratory data on 166 patients who received IVIG for 12 months with dosing from 0.441 gm/kg/month to 2.58 gm/kg/month, measuring changes in hematocrit and glomerular filtration rates (GFR) at 6 and 12 months. RESULTS: Of the 2,232 infusions, there were no incidents of clinical hemolysis...
May 18, 2017: Muscle & Nerve
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