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https://www.readbyqxmd.com/read/27915025/molecular-analysis-of-the-agxt-gene-in-patients-suspected-with-hyperoxaluria-type-1-and-three-novel-mutations-from-turkey
#1
Emel Isiyel, Sevcan A Bakkaloglu Ezgu, Salim Caliskan, Sema Akman, Ipek Akil, Yilmaz Tabel, Nurver Akinci, Elif Bahat Ozdogan, Ahmet Ozel, Fehime Kara Eroglu, Fatih S Ezgu
Primary hyperoxaluria type 1 (PH1) is a rare, autosomal recessive disease, caused by the defect of AGXT gene encoding hepatic peroxisomal alanine glyoxylateaminotransferase (AGT). This enzyme is responsible for the conversion of glyoxylate to glycine. The diagnosis of PH1 should be suspected in infants and children with nephrocalcinosis or nephrolithiasis. Early diagnosis and treatment is crucial in preventing disease progression to end stage kidney disease (ESKD). In this study, AGXT gene sequence analyses were performed in 82 patients who were clinically suspected (hyperoxaluria and nephrolithiasis or nephrocalcinosis with or without renal impairment) to have PH1...
November 1, 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27913483/atypical-hemolytic-uremic-syndrome
#2
Vahid Afshar-Kharghan
Atypical hemolytic uremic syndrome (aHUS) is a thrombotic microangiopathy (TMA) that affects multiple organs and the kidneys in particular. aHUS can be sporadic or familial and is most commonly caused by dysregulation of the alternative complement pathway. The initial attack of aHUS can occur at any age, and is associated with a high rate of progression to end stage renal disease. Many aHUS patients relapse in the native or transplanted kidneys, and require close monitoring and long-term management. Availability of anticomplement therapy has revolutionized the management of aHUS, and can change the natural course of aHUS by inducing hematologic remission, improving or stabilizing kidney functions, and preventing graft failure...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913013/nonalbumin-proteinuria-is-a-simple-and-practical-predictor-of-the-progression-of-early-stage-type-2-diabetic-nephropathy
#3
Jong Ho Kim, Sang Soo Kim, In Joo Kim, Min Jin Lee, Yun Kyung Jeon, Bo Hyun Kim, Sang Heon Song, Yong Ki Kim
AIMS: Multiple biomarkers have emerged as a reliable predictor of the progression of diabetic nephropathy. The aim of this study was to pursue a more simple and practical predictor that can be applied in clinical practice. METHODS: The urine albumin-to-creatinine ratio (ACR), the nonalbumin protein-to-creatinine ratio (NAPCR), and the levels of six biomarkers were measured in 73 patients with type 2 diabetes and estimated glomerular filtration rates (eGFRs)≥60mL/min/1...
November 12, 2016: Journal of Diabetes and its Complications
https://www.readbyqxmd.com/read/27911463/vascular-access-types-in-patients-starting-hemodialysis-after-failed-kidney-transplant-does-close-nephrology-follow-up-matter
#4
Naveed Ul Haq, Mohamed Said Abdelsalam, Mohammed Mahdi Althaf, Abdulrahman Ali Khormi, Hassan Al Harbi, Bader Alshamsan, Mamdouh Nasser Albaqumi, Dieter Clemens Broering, Lutfi Alkorbi, Hassan Ali Aleid
BACKGROUND: Native arteriovenous fistulae (AVFs) are preferred while central venous catheters (CVCs) are least suitable vascular access (VA) in patients requiring hemodialysis (HD). Unfortunately, around 80% of patients start HD with CVCs. Late referral to nephrologist is thought to be a factor responsible for this. We retrospectively analyzed the types of VA at HD initiation in renal transplant recipients followed by nephrologists with failed transplant. If early referral to nephrologist improves AVF use, these patients should have higher prevalence of AVF at HD initiation...
November 28, 2016: Journal of Vascular Access
https://www.readbyqxmd.com/read/27907168/are-urinary-tubular-injury-markers-useful-in-chronic-kidney-disease-a-systematic-review-and-meta-analysis
#5
Le-Ting Zhou, Lin-Li Lv, Ming-Ming Pan, Yu-Han Cao, Hong Liu, Ye Feng, Hai-Feng Ni, Bi-Cheng Liu
BACKGROUND: Adverse outcome of chronic kidney disease, such as end stage renal disease, is a significant burden on personal health and healthcare costs. Urinary tubular injury markers, such as NGAL, KIM-1 and NAG, could provide useful prognostic value for the early identification of high-risk patients. However, discrepancies between recent large prospective studies have resulted in controversy regarding the potential clinical value of these markers. Therefore, we conducted the first meta-analysis to provide a more persuasive argument to this debate...
2016: PloS One
https://www.readbyqxmd.com/read/27904864/nephrotic-range-proteinuria-and-peripheral-edema-in-a-child-not-only-idiopathic-nephrotic-syndrome
#6
Valentina Dolcemascolo, Marina Vivarelli, Manuela Colucci, Francesca Diomedi-Camassei, Rossella Piras, Marta Alberti, Francesco Emma
Hemolytic uremic syndrome (HUS) is defined by the simultaneous occurrence of hemolytic anemia, thrombocytopenia, and acute kidney injury due to thrombotic microangiopathy (TMA) mainly occurring in renal and cerebral microvessels. Although the most common cause of HUS in children is Shiga toxin-producing Escherichia coli, atypical forms in which Shiga toxin is not the trigger may occur. Research over the last few years has shown that complement dysregulation secondary to mutations of genes coding for proteins involved in the regulation of the alternative pathway of complement account for most forms of atypical HUS (aHUS)...
September 2016: Case Reports in Nephrology and Dialysis
https://www.readbyqxmd.com/read/27902749/risk-factors-associated-with-renal-involvement-in-childhood-henoch-sch%C3%A3-nlein-purpura-a-meta-analysis
#7
Han Chan, Yan-Ling Tang, Xiao-Hang Lv, Gao-Fu Zhang, Mo Wang, Hai-Ping Yang, Qiu Li
BACKGROUND AND OBJECTIVE: Henoch-Schönlein purpura (HSP) is an important cause of chronic kidney disease in children. This meta-analysis identified risk factors associated with renal involvement in childhood HSP. METHODS: PubMed, Embase, and Web of Science were searched. The quality of all eligible studies was assessed using the Newcastle-Ottawa scale criteria. An analysis of possible risk factors was conducted to report the odds ratio (OR) and weighted mean difference (WMD)...
2016: PloS One
https://www.readbyqxmd.com/read/27900971/chronic-kidney-disease-stages-among-diabetes-patients-in-the-cape-coast-metropolis
#8
Richard K D Ephraim, Eric Arthur, W K B A Owiredu, Prince Adoba, Hope Agbodzakey, Ben A Eghan
Diabetes patients worldwide are at a high risk of chronic kidney disease (CKD) which affects their quality of life and increases the risk of early death. This study used the new kidney disease improving global outcomes (KDIGO) guidelines to establish the prevalence and also identify the factors associated with CKD among diabetes patients in the Cape Coast Metropolis. Two hundred (200) diabetes patients were randomly recruited from the diabetic clinic of the Cape Coast Teaching Hospital from January to April 2014...
November 2016: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/27900941/the-kidney-in-sickle-hemoglobinopathies%C3%A2
#9
Medha Airy, Garabed Eknoyan
With improvements in the care of patients with sickle hemoglobinopathies, sickle cell disease (SCD) has evolved from a disease that was fatal in childhood into one in which most survive past their 5th decade and some into old age. As a result, the renal complications of sickle hemoglobinopathies, which are age dependent, have emerged as a common and serious complication of SCD. Approximately 14 - 18% of mortality in SCD is attributed to chronic kidney disease (CKD), which develops in 1/3 of individuals with SCD and progresses to end-stage renal disease in 4 - 18% of them...
November 30, 2016: Clinical Nephrology
https://www.readbyqxmd.com/read/27888584/small-molecule-inhibiting-nf-kb-ameliorates-oxidative-stress-and-suppresses-renal-inflammation-in-early-stage-of-alloxan-induced-diabetic-nephropathy-in-rat
#10
Manash P Borgohain, Mangala Lakhar, Sahabuddin Ahmed, Liakat Chowdhury, Saurabh Kumar, Rajat Pant, Abhinav Choubey
Diabetic nephropathy is one of the major microvascular complications of diabetes mellitus which ultimately gives rise to cardiovascular diseases. Oxidative stress produced by prolonged hyperglycaemia and chronic renal inflammation are the two key players in the development and progression of diabetic nephropathy. NF-kB-mediated inflammatory cascade is a strong contributor to the renovascular inflammation in diabetic nephropathy. Here, we studied the effects of piceatannol, a potent NF-kB inhibitor, on various oxidative stress markers and diabetic renal inflammatory pathway in rat induced by alloxan...
November 26, 2016: Basic & Clinical Pharmacology & Toxicology
https://www.readbyqxmd.com/read/27887750/chronic-kidney-disease
#11
REVIEW
Angela C Webster, Evi V Nagler, Rachael L Morton, Philip Masson
The definition and classification of chronic kidney disease (CKD) have evolved over time, but current international guidelines define this condition as decreased kidney function shown by glomerular filtration rate (GFR) of less than 60 mL/min per 1·73 m(2), or markers of kidney damage, or both, of at least 3 months duration, regardless of the underlying cause. Diabetes and hypertension are the main causes of CKD in all high-income and middle-income countries, and also in many low-income countries. Incidence, prevalence, and progression of CKD also vary within countries by ethnicity and social determinants of health, possibly through epigenetic influence...
November 22, 2016: Lancet
https://www.readbyqxmd.com/read/27878313/targeting-renal-glucose-reabsorption-to-treat-hyperglycaemia-the-pleiotropic-effects-of-sglt2-inhibition
#12
REVIEW
Volker Vallon, Scott C Thomson
Healthy kidneys filter ∼160 g/day of glucose (∼30% of daily energy intake) under euglycaemic conditions. To prevent valuable energy from being lost in the urine, the proximal tubule avidly reabsorbs filtered glucose up to a limit of ∼450 g/day. When blood glucose levels increase to the point that the filtered load exceeds this limit, the surplus is excreted in the urine. Thus, the kidney provides a safety valve that can prevent extreme hyperglycaemia as long as glomerular filtration is maintained. Most of the capacity for renal glucose reabsorption is provided by sodium glucose cotransporter (SGLT) 2 in the early proximal tubule...
November 22, 2016: Diabetologia
https://www.readbyqxmd.com/read/27872478/circulating-tumour-cells-as-biomarkers-of-prostate-bladder-and-kidney-cancer
#13
REVIEW
Michael A Gorin, James E Verdone, Emma van der Toom, Trinity J Bivalacqua, Mohamad E Allaf, Kenneth J Pienta
Circulating tumour cells (CTCs) have been studied as biomarkers of a number of solid malignancies. Potential clinical applications for CTC analysis include early cancer detection, disease staging, monitoring for recurrence, prognostication, and to aid in the selection of therapy. In the field of urologic oncology, CTCs have been most widely studied as prognostic biomarkers of castration-resistant prostate cancer. Additionally, emerging data support a role for CTCs to help identify which patients are most likely to respond to novel androgen-pathway targeted therapies, such as abiraterone and enzalutamide...
November 22, 2016: Nature Reviews. Urology
https://www.readbyqxmd.com/read/27870681/kidney-cancer
#14
S Brandon Hancock, Christos S Georgiades
The number of new cases of renal cell carcinoma has been steadily increasing since the 1960s, reaching 62,000 and 89,000 annually in the United States and Europe, respectively, in 2016. The current standard of care for early-stage disease is nephron-sparing surgery, which has a demonstrated long-term disease-free survival and an acceptable safety profile. Technical developments (thin, powerful probes and real-time image guidance systems) have allowed image-guided percutaneous ablation to become a viable option for stage I renal cell carcinoma...
November 2016: Cancer Journal
https://www.readbyqxmd.com/read/27870653/apolipoprotein-l1-and-apolipoprotein-a-iv-and-their-association-with-kidney-function
#15
Florian Kronenberg
PURPOSE OF REVIEW: Chronic kidney disease (CKD) is a common disease with an estimated prevalence of 10-12%. There are pronounced differences between ethnicities with a 3-fold to 4-fold higher lifetime risk for end-stage kidney disease in African Americans compared to European Americans. The purpose of this review was to discuss recent findings on two apolipoproteins (apolipoprotein L1 and A-IV) in the context of kidney disease and kidney function. RECENT FINDINGS: The observation that certain apolipoprotein L1 risk genotypes that are only present in African Americans might explain a major fraction of the ethnic differences for nondiabetic CKD has set the stage for this otherwise under-researched apolipoprotein...
November 18, 2016: Current Opinion in Lipidology
https://www.readbyqxmd.com/read/27867961/cardio-renal-protection-with-empagliflozin
#16
Richard J MacIsaac, George Jerums, Elif I Ekinci
Cardiovascular (CV) and kidney disease are common and significant complications in people with type 2 diabetes (T2DM). CV disease is the leading cause of death, morbidly and hospitalisations for people with T2DM. Furthermore, diabetic kidney disease is a major risk factor for CV disease and is the main reason why patients need renal replacement therapy. In this perspective, we highlight the results of the recent landmark EMPA-REG OUTCOME trial which has shown that empagliflozin, a member of the sodium-glucose co-transporter 2 (SGLT-2) inhibitor class of glucose lowering medications, reduces death from CV causes, hospitalisation for heart failure and progression to end stage kidney disease in patients with T2DM and established CV disease...
October 2016: Annals of Translational Medicine
https://www.readbyqxmd.com/read/27867500/neurological-complications-in-chronic-kidney-disease
#17
REVIEW
Ria Arnold, Tushar Issar, Arun V Krishnan, Bruce A Pussell
Patients with chronic kidney disease (CKD) are frequently afflicted with neurological complications. These complications can potentially affect both the central and peripheral nervous systems. Common neurological complications in CKD include stroke, cognitive dysfunction, encephalopathy, peripheral and autonomic neuropathies. These conditions have significant impact not only on patient morbidity but also on mortality risk through a variety of mechanisms. Understanding the pathophysiological mechanisms of these conditions can provide insights into effective management strategies for neurological complications...
January 2016: JRSM Cardiovascular Disease
https://www.readbyqxmd.com/read/27865566/phosphorus-additives-and-albuminuria-in-early-stages-of-ckd-a-randomized-controlled-trial
#18
Alex R Chang, Edgar R Miller, Cheryl A Anderson, Stephen P Juraschek, Melissa Moser, Karen White, Bobbie Henry, Caitlin Krekel, Susan Oh, Jeanne Charleston, Lawrence J Appel
BACKGROUND: Little is known about the effects of phosphorus additives on patients with kidney disease. STUDY DESIGN: Randomized, double-blind, crossover trial. SETTING & PARTICIPANTS: 31 adults with early stages of presumed chronic kidney disease (estimated glomerular filtration rate ≥ 45mL/min/1.73m(2); urine albumin-creatinine ratio sex-specific cutoff points: men ≥ 17mg/g, women ≥ 25mg/g). INTERVENTION: Higher versus lower phosphorus intake for 3 weeks...
November 16, 2016: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/27864431/apol1-mediated-cell-injury-involves-disruption-of-conserved-trafficking-processes
#19
Etty Kruzel-Davila, Revital Shemer, Ayala Ofir, Ira Bavli-Kertselli, Ilona Darlyuk-Saadon, Pazit Oren-Giladi, Walter G Wasser, Daniella Magen, Eid Zaknoun, Maya Schuldiner, Adi Salzberg, Daniel Kornitzer, Zvonimir Marelja, Matias Simons, Karl Skorecki
APOL1 harbors C-terminal sequence variants (G1 and G2), which account for much of the increased risk for kidney disease in sub-Saharan African ancestry populations. Expression of the risk variants has also been shown to cause injury to podocytes and other cell types, but the underlying mechanisms are not understood. We used Drosophila melanogaster and Saccharomyces cerevisiae to help clarify these mechanisms. Ubiquitous expression of the human APOL1 G1 and G2 disease risk alleles caused near-complete lethality in D...
November 18, 2016: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/27861591/rule-mining-for-the-early-prediction-of-chronic-kidney-disease-based-on-metabolomics-and-multi-source-data
#20
Margaux Luck, Gildas Bertho, Mathilde Bateson, Alexandre Karras, Anastasia Yartseva, Eric Thervet, Cecilia Damon, Nicolas Pallet
1H Nuclear Magnetic Resonance (NMR)-based metabolic profiling is very promising for the diagnostic of the stages of chronic kidney disease (CKD). Because of the high dimension of NMR spectra datasets and the complex mixture of metabolites in biological samples, the identification of discriminant biomarkers of a disease is challenging. None of the widely used chemometric methods in NMR metabolomics performs a local exhaustive exploration of the data. We developed a descriptive and easily understandable approach that searches for discriminant local phenomena using an original exhaustive rule-mining algorithm in order to predict two groups of patients: 1) patients having low to mild CKD stages with no renal failure and 2) patients having moderate to established CKD stages with renal failure...
2016: PloS One
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