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https://www.readbyqxmd.com/read/28719906/a-common-ancestral-asn242ser-mutation-in-tmem67-identified-in-multiple-iranian-families-with-joubert-syndrome
#1
MohammadReza Dehghani, Majid Mojarad, Ehsan Ghayoor Karimiani, Mohammad Yahya Vahidi Mehrjardi, Afsaneh Sahebalzamani, Farah Ashrafzadeh, Mehran Beiraghi Toosi, Atiyeh Eslahi, Najmeh Ahangari, Seyed Mojtaba Yassini, Afsaneh Hassanbeigi, Azam Rasti, Seyed Mehdi Kalantar, Reza Maroofian
BACKGROUND: Joubert syndrome (JS) is a clinically and genetically heterogeneous group of rare neurodevelopmental disorder characterised by peculiar midbrain-hindbrain malformation, known as the "molar tooth" sign. JS can manifest a broad range of signs and symptoms. The most common features of JS are hypotonia, ataxia, developmental delay/intellectual disability, abnormal eye movements, and neonatal breathing abnormalities. To date, 29 genes have been shown to cause JS. METHODS: We employed whole-genome single nucleotide polymorphism genotyping in a group of Iranian families with JS and Sanger sequencing of a known mutation associated with JS located in a single homozygous regions shared by affected members of the families...
July 19, 2017: Public Health Genomics
https://www.readbyqxmd.com/read/28676198/treatment-of-gabapentin-toxicity-with-peritoneal-dialysis-assessment-of-gabapentin-clearance
#2
Hisham Ibrahim, Zachary Oman, Matthew Schuelke, John C Edwards
Gabapentin is almost exclusively cleared by the kidney and thus presents challenges in patients with kidney failure. Gabapentin is known to be effectively cleared by hemodialysis, but the efficiency of clearance by peritoneal dialysis (PD) has not been previously described. We report a case of gabapentin toxicity in a patient on long-term PD who was treated with continuous automated cycling PD. We find that continuous PD provides significant clearance of gabapentin. With 2-L exchanges every 2 hours, we document an apparent elimination half-life of 41...
July 1, 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/28674262/time-dependent-alterations-of-vancomycin-induced-nephrotoxicity-in-mice
#3
Masaki Takigawa, Hirofumi Masutomi, Yuki Kishimoto, Yoshitomo Shimazaki, Yoshitomo Hamano, Yoshitaka Kondo, Tomio Arai, Jaewon Lee, Toshihiro Ishii, Yoshiko Mori, Akihito Ishigami
Vancomycin hydrochloride (VCM) is a glycopeptide antibiotic that is commonly used against methicillin-resistant, Gram-positive cocci despite the nephrotoxic side effects. VCM-induced nephrotoxicity has been reported in 5-28% of recipient patients. Therefore, renal failure induced by VCM has become an important clinical problem. However, the exceedingly complex mechanism of VCM-induced nephrotoxicity is not fully understood. Therefore, this study was designed to clarify time-dependent alterations of VCM-induced nephrotoxicity in mice as a step toward decreasing the risks of kidney injury associated with VCM therapy...
2017: Biological & Pharmaceutical Bulletin
https://www.readbyqxmd.com/read/28667347/clinical-analysis-of-diabetic-combined-pulmonary-mucormycosis
#4
Yu-Hong Li, Peng Sun, Jian-Chao Guo
OBJECTIVE: To improve the understanding of diabetic combined pulmonary mucormycosis. METHODS AND RESULTS: The clinical data of twelve patients diagnosed as diabetic combined pulmonary mucormycosis were analyzed by the clinical manifestations, imaging features, diagnosis, treatment and prognosis of this disease. Patients from January 1999 to June 2015 in our hospital had poor blood glucose control and varying degrees of diabetic chronic complications with an on average of diabetes 8...
June 30, 2017: Mycopathologia
https://www.readbyqxmd.com/read/28663673/spontaneous-bacterial-peritonitis-by-burkholderia-cepacia-complex-a-rare-difficult-to-treat-infection-in-decompensated-cirrhotic-patients
#5
Sunil Taneja, Pramod Kumar, Vikas Gautam, Ajay Duseja, Virendra Singh, Radha K Dhiman, Yogesh Chawla
INTRODUCTION: Burkholderia cepacia complex (Bcc) is non-fermenting Gram-negative bacillus and has been rarely reported to cause spontaneous bacterial peritonitis (SBP) in decompensated cirrhosis. OBJECTIVE: This study was done to evaluate the clinical presentation of cirrhotic patients with SBP due to Bcc and to determine its impact on clinical outcome. METHODS: This is a retrospective, observational study conducted during the period from 1st January 2013 through 31st March 2015...
June 2017: Journal of Clinical and Experimental Hepatology
https://www.readbyqxmd.com/read/28661313/acute-appendicitis-after-kidney-transplantation-experience-at-a-tertiary-care-hospital-in-mexico-city
#6
Edgar Ortiz-Brizuela, Alejandro Quiroz-Compeán, Mario Vilatobá-Chapa, Josefina Alberú-Gómez
OBJECTIVES: Here, we describe the presentation, treatment, and outcomes of acute appendicitis in kidney transplant recipients at a tertiary care hospital in Mexico City. MATERIALS AND METHODS: We conducted a retrospective case series study at a tertiary care hospital in Mexico City from January 2000 to January 2015. RESULTS: During our study period, 1186 patients received a kidney transplant; among these patients, we identified 10 cases of acute appendicitis (0...
June 28, 2017: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/28652124/ureterocalicostomy-for-reconstruction-of-complicated-ureteropelvic-junction-obstruction-in-adults-long-term-outcome-factors-predicting-its-failure-in-contemporary-cohort
#7
Devarshi Srivastava, Sanjoy K Sureka, Priyank Yadav, Ankur Bansal, Shashikant Gupta, Rakesh Kapoor, M S Ansari, Aneesh Srivastava
INTRODUCTION: Ureterocalicostomy (UC) is a well-established treatment option for patients with recurrent ureteropelvic junction obstruction (UPJO) with postoperative fibrosis and a relatively inaccessible renal pelvis. This study aimed to evaluate the long-term outcome of UC and factors predicting its failure. MATERIALS AND METHODS: We retrospectively analysed data of 72 patients who underwent open or laparoscopic UC from 2000 to 2014. Variables that may affect the outcomes of UC were assessed with regard to primary pathology, age, serum creatinine, preoperative renal size (<15 cm and > 15 cm), renal cortical thickness (<5mm and >5 mm), grade of hydronephrosis and preoperative renal function (GFR < or >20 ml/min)...
June 23, 2017: Journal of Urology
https://www.readbyqxmd.com/read/28644734/high-throughput-phenotypic-screening-of-kinase-inhibitors-to-identify-drug-targets-for-polycystic-kidney-disease
#8
Tijmen H Booij, Hester Bange, Wouter N Leonhard, Kuan Yan, Michiel Fokkelman, Steven J Kunnen, Johannes G Dauwerse, Yu Qin, Bob van de Water, Gerard J P van Westen, Dorien J M Peters, Leo S Price
Polycystic kidney disease (PKD) is a prevalent disorder characterized by renal cysts that lead to kidney failure. Various signaling pathways have been targeted to stop disease progression, but most interventions still focus on alleviating PKD-associated symptoms. The mechanistic complexity of the disease, as well as the lack of functional in vitro assays for compound testing, has made drug discovery for PKD challenging. To identify modulators of PKD, Pkd1(-/-) kidney tubule epithelial cells were applied to a scalable and automated 3D cyst culture model for compound screening, followed by phenotypic profiling to determine compound efficacy...
June 1, 2017: SLAS Discovery
https://www.readbyqxmd.com/read/28642065/severe-and-resistant-hypertension-in-an-older-woman-with-claudication
#9
Puneet Gupta, Robert Hagberg, Electra Kaloudis, Anika Lucas, Parth Shah, William B White
Coarctation of the aorta is an uncommon cause of treatment-resistant hypertension in adults. It is typically detected and treated in infancy or childhood with surgical or endovascular procedures. Most cases of recurrence of coarctation after repair occur in childhood or early adulthood; recurrence in older persons (>70 years) has rarely been reported. A 73-year-old woman was referred to us for the management of treatment-resistant hypertension accompanied by symptoms of claudication and headaches, which had resulted in multiple emergency room visits...
June 1, 2017: Journal of the American Society of Hypertension: JASH
https://www.readbyqxmd.com/read/28640024/molecular-adsorbent-recirculating-system-can-reduce-short-term-mortality-among-patients-with-acute-on-chronic-liver-failure-a-retrospective-analysis
#10
Hans U Gerth, Michele Pohlen, Gerold Thölking, Hermann Pavenstädt, Marcus Brand, Anna Hüsing-Kabar, Christian Wilms, Miriam Maschmeier, Iyad Kabar, Josep Torner, Marco Pavesi, Vicente Arroyo, Rafael Banares, Hartmut H J Schmidt
OBJECTIVES: Acute-on-chronic liver failure is associated with numerous consecutive organ failures and a high short-term mortality rate. Molecular adsorbent recirculating system therapy has demonstrated beneficial effects on the distinct symptoms, but the associated mortality data remain controversial. DESIGN: Retrospective analysis of acute-on-chronic liver failure patients receiving either standard medical treatment or standard medical treatment and molecular adsorbent recirculating system...
June 21, 2017: Critical Care Medicine
https://www.readbyqxmd.com/read/28634117/to-assess-the-effects-of-parathyroidectomy-tptx-versus-tptx-at-for-secondary-hyperparathyroidism-in-chronic-renal-failure-a-meta-analysis
#11
REVIEW
Nian-Cun Qiu, Si-Luo Zha, Miao-E Liu, Zhi-Peng Du, Yi-Fan Wang, Qiang Wang, Qi Chen, Ying Jiang, Cheng-Xiang Shan, Ming Qiu
BACKGROUND: Secondary Hyperparathyroidism (SHPT) requiring parathyroidectomy (PTX) occurs more commonly in patients with progressive chronic kidney disease and in those on long-term lithium therapy. Successful PTX often results in a dramatic drop of parathyroid hormone level, relieves the patient from clinical symptoms, and reduces mortality. However, there is an ongoing debate on the optimal surgical treatment of SHPT. Currently, no clinical guidelines or trials have definitely answered the question of whether Total Parathyroidectomy (TPTX) is superior or equal to Total Parathyroidectomy with Autotransplantation (TPTX + AT)...
June 17, 2017: International Journal of Surgery
https://www.readbyqxmd.com/read/28629462/treatment-decisions-for-older-adults-with-advanced-chronic-kidney-disease
#12
REVIEW
Steven J Rosansky, Jane Schell, Joseph Shega, Jennifer Scherer, Laurie Jacobs, Cecile Couchoud, Deidra Crews, Matthew McNabney
Dialysis initiation rates among older adults, aged 75 years or greater, are increasing at a faster rate than for younger age groups. Older adults with advanced CKD (eGFR < 30 ml/min/1.73 m(2)) typically lose renal function slowly, often suffer from significant comorbidity and thus may die from associated comorbidities before they require dialysis.A patient's pattern of renal function loss over time in relation to their underlying comorbidities can serve as a guide to the probability of a future dialysis requirement...
June 19, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28610806/heart-failure-in-patients-with-kidney-disease-and-iron-deficiency-the-role-of-iron-therapy
#13
Aleix Cases Amenós, Raquel Ojeda López, José María Portolés Pérez
Chronic kidney disease and anaemia are common in heart failure (HF) and are associated with a worse prognosis in these patients. Iron deficiency is also common in patients with HF and increases the risk of morbidity and mortality, regardless of the presence or absence of anaemia. While the treatment of anaemia with erythropoiesis-stimulating agents in patients with HF have failed to show a benefit in terms of morbidity and mortality, treatment with IV iron in patients with HF and reduced ejection fraction and iron deficiency is associated with clinical improvement...
June 10, 2017: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
https://www.readbyqxmd.com/read/28606296/-autosomal-dominant-polycystic-kidney-disease
#14
Signe Vinsand Naver, Bjarne Ørskov, Anja Møller Jensen, Martin Egfjord
Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic disorder which causes end stage renal disease. In Denmark, estimated 5,000 patients are living with the disease. Most of the patients are in regular contact with physicians due to the progression of kidney failure causing hypertension as well as cyst infections, back pain, abdominal distension and other symptoms caused by the enlarged kidneys. In this article we describe the clinical presentation, the genetics, the pathophysiology and the current and future treatment modalities of the disease...
June 12, 2017: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/28603685/epidemiology-of-leptospirosis-in-costa-rica-2011-2015
#15
REVIEW
Marcelo Pérez Carvajal, Kaila A Fagerstrom
PURPOSE OF REVIEW: Leptospirosis is a global spirochete causing chronic renal disease that is increasing in Costa Rica. This paper identifies the prevalence and risk factors of leptospirosis in Costa Rica between the years of 2011-2015. RECENT FINDINGS: Clinical cases of leptospirosis in Costa Rica demonstrated various symptoms: from asymptomatic diseases to severe cases of kidney and liver failure. A variety of diagnostic methods with varying specificities and sensitivities were employed...
2017: Current Tropical Medicine Reports
https://www.readbyqxmd.com/read/28540206/acute-kidney-injury-from-different-poisonous-substances
#16
Rubina Naqvi
AIM: To report our experience of acute kidney injury (AKI) developed after exposure to poisonous substance. METHODS: Retrospective study where data was collected from case records of patients coming to this institute during January 1990 to May 2016. This institution is a tertiary care center for renal care in the metropolitan city of Karachi, Pakistan. History of ingested substance, symptoms on presentation, basic laboratory tests on arrival, mode of treatment and outcome were recorded from all patients and are presented here...
May 6, 2017: World Journal of Nephrology
https://www.readbyqxmd.com/read/28540058/trends-in-the-management-of-patients-with-kidney-failure-in-alberta-canada-2004-2013
#17
Christy C Chong, Helen Tam-Tham, Brenda R Hemmelgarn, Robert G Weaver, Nairne Scott-Douglas, Marcello Tonelli, Robert R Quinn, Liam Manns, Braden J Manns
BACKGROUND: Based on clinical practice guidelines, specific quality indicators are examined to assess the performance of a health care system for patients with end-stage renal disease (ESRD). We examined trends in the proportion of patients with ESRD referred late to nephrology, timing of dialysis initiation in those with chronic kidney disease, and proportion of patients with ESRD treated with pre-emptive kidney transplantation or peritoneal dialysis (PD). Design:: This was a retrospective cohort study...
2017: Canadian Journal of Kidney Health and Disease
https://www.readbyqxmd.com/read/28512393/immunoglobulin-a-lambda-multiple-myeloma-in-a-patient-with-hiv-an-unusual-cause-of-massive-ascites
#18
Molham Abdulsamad, Naeem Abbas, Harish Patel, Bhavna Balar, Misbahuddin Khaja
Multiple myeloma (MM) is a neoplastic proliferation of plasma cells with overproduction of monoclonal immunoglobulins and infiltration into the bone and other organs. Ascites can develop in patients with lymphoproliferative and solid malignancies involving the peritoneum. However, ascites is unusual in MM and rarely the initial presenting sign or symptom. The development of ascites can be due to peritoneal infiltration or secondary to hepatic involvement, heart failure, or kidney failure. Ascites in MM reflects a more aggressive stage, and the reported prognosis is poor, with a median survival of 1-2 months...
January 2017: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/28512217/loss-of-the-homologous-recombination-gene-rad51-leads-to-fanconi-anemia-like-symptoms-in-zebrafish
#19
Jan Gregor Botthof, Ewa Bielczyk-Maczyńska, Lauren Ferreira, Ana Cvejic
RAD51 is an indispensable homologous recombination protein, necessary for strand invasion and crossing over. It has recently been designated as a Fanconi anemia (FA) gene, following the discovery of two patients carrying dominant-negative mutations. FA is a hereditary DNA-repair disorder characterized by various congenital abnormalities, progressive bone marrow failure, and cancer predisposition. In this report, we describe a viable vertebrate model of RAD51 loss. Zebrafish rad51 loss-of-function mutants developed key features of FA, including hypocellular kidney marrow, sensitivity to cross-linking agents, and decreased size...
May 30, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28506691/urinary-lysophopholipids-are-increased-in-diabetic-patients-with-nephropathy
#20
Jean-Sébastien Saulnier-Blache, Eva Feigerlova, Jean Michel Halimi, Pierre Gourdy, Ronan Roussel, Bruno Guerci, Aude Dupuy, Justine Bertrand-Michel, Jean-Loup Bascands, Samy Hadjadj, Joost P Schanstra
Diabetic nephropathy (DN) is a major cause of chronic kidney disease that frequently leads to end stage renal failure. Lysophosphatidic acid (LPA) and lysophosphatidylcholine (LPC) are lysophospholipid mediators shown to accumulate in kidney and to promote renal inflammation and tubulo-interstitial fibrosis in diabetic rodent models. Here we assessed whether LPA and LPC were associated to the development of nephropathy in diabetic human patients. Several molecular species of LPA and LPC were quantified by LC/MS-MS in urine and plasma from type 2 diabetic patients with (cases; n=41) or without (controls, n=41) nephropathy symptoms (micro/macro-albuminuria and eGFR<60ml/min/1...
July 2017: Journal of Diabetes and its Complications
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