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nephrologic syndrome

Diana Karpman, Peter Höglund
Orphan drugs designed to treat rare diseases are often overpriced per patient. Novel treatments are sometimes even more expensive for patients with ultra-rare diseases, in part due to the limited number of patients. Pharmaceutical companies that develop a patented life-saving drug are in a position to charge a very high price, which, at best, may enable these companies to further develop drugs for use in rare disease. However, is there a limit to how much a life-saving drug should cost annually per patient? Government interventions and regulations may opt to withhold a life-saving drug solely due to its high price and cost-effectiveness...
October 13, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Kianoush Kashani, Claudio Ronco
Acute kidney injury (AKI) is a common complication of acute illnesses with significant impact on the mortality and morbidity. Early recognition of AKI allows clinicians to provide prophylactic interventions and to improve the outcomes of this deadly syndrome. Growing utilization and capabilities of electronic health records allow AKI risk stratification and early recognition with a potential effect on the processes of care and outcomes. We evaluate the current level of evidence on the impact of the AKI e-alert on the processes of care and outcomes...
October 14, 2016: Blood Purification
Behrooz Hashemi, Saeed Safari, Mostafa Hosseini, Mahmoud Yousefifard, Elham Erfani, Alireza Baratloo, Farhad Rahmati, Maryam Motamedi, Mohammad Mehdi Forouzanfar, Iraj Najafi
CONTEXT: Crush syndrome and its potentially life-threatening complications, such as acute kidney injury (AKI), are one of the most important medical problems of disaster victims. However, today, many unanswered questions abound about the potential risk factors of crush syndrome, predictive factors of AKI, proper amount of prophylactic hydration therapy, type of fluid, time of continuing fluid, intravenous versus oral hydration, etc. Therefore, this study was designed to review the findings on Iranian nephrologist experiences in diagnosis and management of traumatic rhabdomyolysis following the last two strong earthquakes of Bam (2003) and Manjil-Rudbar (1990)...
June 2016: Archives of Trauma Research
Biljana Gerasimovska Kitanovska, Vesna Gerasimovska, Vesna Livrinova
BACKGROUND: Alport syndrome is a genetic disease that progresses to chronic kidney failure, with X-linked, autosomal dominant or autosomal recessive type of inheritance. Women are generally carriers of the mutation and have a milder form of the disease. During pregnancy, they have an increased risk of impaired kidney function and preeclampsia. CASE PRESENTATION: A 27-year old woman, gravida 1, para 0, in her 23rd gestational week came to the outpatient unit of the University Clinic of Nephrology for the first time because of slowly progressing proteinuria and Alport syndrome...
September 15, 2016: Open Access Macedonian Journal of Medical Sciences
Kumiko Momoki, Tsukasa Yamaguchi, Kazuteru Ohashi, Minoru Ando, Kosaku Nitta
BACKGROUND: Stem cell transplantation (SCT) places a heavy burden on the kidneys, often resulting in renal dysfunction or nephrotic syndrome. This study attempted to show that early-onset proteinuria predicts the development of overt nephropathy. METHODS: A total of 831 patients who received allogeneic SCT were surveyed. Excluding those with prior kidney disease and those lacking in an observation period ≥1 year after SCT, 251 patients were eligible for the study...
October 1, 2016: Nephron
Houda Mbarki, Khadija Alaoui Belghiti, Taoufiq Harmouch, Adil Najdi, Mohamed Arrayhani, Tarik Sqalli
The contribution of renal needle biopsy (RNB) to make a diagnosis, a treatment selection and a prognostic evaluation of nephropathies is significant. No Moroccan study has evaluated the practice and the contribution of RNB. Our aim was to study RNB indications, to determine the frequency of kidney diseases identified by RNB in our region and make a comparison between clinical and biological data and histological diagnosis. This is a retrospective study conducted between January 2009 and December 2012. We included all patients in the Department of Nephrology, CHU Hassan II, Fez, who underwent biopsy of native kidneys...
2016: Pan African Medical Journal
Luca Perico, Sara Conti, Ariela Benigni, Giuseppe Remuzzi
Genetic studies of hereditary forms of nephrotic syndrome have identified several proteins that are involved in regulating the permselective properties of the glomerular filtration system. Further extensive research has elucidated the complex molecular basis of the glomerular filtration barrier and clearly established the pivotal role of podocytes in the pathophysiology of glomerular diseases. Podocyte architecture is centred on focal adhesions and slit diaphragms - multiprotein signalling hubs that regulate cell morphology and function...
November 2016: Nature Reviews. Nephrology
Carlo Caffarelli, Francesca Santamaria, Dora Di Mauro, Carla Mastrorilli, Virginia Mirra, Sergio Bernasconi
This review focuses key advances in different pediatric fields that were published in Italian Journal of Pediatrics and in international journals in 2015. Weaning studies continue to show promise for preventing food allergy. New diagnostic tools are available for identifying the allergic origin of allergic-like symptoms. Advances have been reported in obesity, short stature and autoimmune endocrine disorders. New molecules are offered to reduce weight gain and insulin-resistance in obese children. Regional investigations may provide suggestions for preventing short stature...
August 27, 2016: Italian Journal of Pediatrics
Florence Sens, Éric Pouliquen, Sandrine Lemoine, Éric Bonnefoy-Cudraz, Laurent Juillard
Kidney dysfunction during congestive heart failure, although frequent, is often neglected. Yet, it represents a life-threatening condition, oven when the kidney dysfunction is moderate. The initial approach involvus strict application of recommendations, cardiologic and nephrologic joined management and close follow-up involving patient's general practitioner. Cases of true diuretics resistance are infrequent and late. Yet, it represents a significant turning point. Mortality is high, with a major individual unpredictability...
June 2016: La Revue du Praticien
Mona Doshi, Amit Lahoti, Farhad R Danesh, Vecihi Batuman, Paul W Sanders
Disorders of plasma and B cells leading to paraproteinemias are associated with a variety of renal diseases. Understanding the mechanisms of injury and associated nephropathies provides a framework that aids clinicians in prompt diagnosis and appropriate adjunctive treatment of these disorders. Glomerular diseases that may be associated with paraproteinemias include amyloid deposition, monoclonal Ig deposition disease, proliferative GN with monoclonal Ig deposits, C3 glomerulopathy caused by alterations in the complement pathway, immunotactoid glomerulopathy, fibrillary GN, and cryoglobulinemia...
August 15, 2016: Clinical Journal of the American Society of Nephrology: CJASN
Mitchell H Rosner, Amaka Edeani, Motoko Yanagita, Ilya G Glezerman, Nelson Leung
Paraprotein-related kidney disease represents a complex group of diseases caused by an abnormal paraprotein secreted by a clone of B cells. The disease manifestations range from tubulopathies, such as the Fanconi syndrome, to a spectrum of glomerular diseases that can present with varying degrees of proteinuria and renal dysfunction. Diagnosis of these diseases can be challenging because of the wide range of manifestations as well as the relatively common finding of a serum paraprotein, especially in elderly patients...
August 15, 2016: Clinical Journal of the American Society of Nephrology: CJASN
Theophilus I Umeizudike, Jacob O Awobusuyi, Christiana O Amira, Taslim B Bello, Monica O Mabayoje, Adebowale O Adekoya, Olufemi O Adelowo, Mumuni A Amisu
BACKGROUND: The burden of chronic kidney disease (CKD) in Nigeria is quite alarming. The prevalence of CKD ranges from 11 - 23.5%. Hypertension and chronic glomerulonephritis (CGN) remain the two leading causes of CKD in Nigeria. The etiology of CKD in many of these patients remains unknown, as few biopsies are done. In order to demystify the various glomerular diseases that culminate in CGN, performing a kidney biopsy offers a ray of hope. Few studies on renal biopsies have emanated from Nigeria; this study, however, is unique as the histopathological analysis involves light, immunofluorescence, and electron microscopies...
August 10, 2016: Clinical Nephrology
Syed Sajid Hussain Shah, Farkhanda Hafeez
OBJECTIVE: To compare the efficacy of tacrolimus versus cyclosporine (Calcineurin Inhibitors) in the management of childhood steroid-resistant nephritic syndrome (SRNS). STUDY DESIGN: Quasi-experimental study. PLACE AND DURATION OF STUDY: Department of Paediatric Nephrology at The Children's Hospital and Institute of Child Health, Lahore, from August 2014 to September 2015. METHODOLOGY: Patients of either gender aged 1 - 12 years, with the diagnosis of mesangioproliferative glomerulonephritis (MesangioPGN), focal segmental glomerulosclerosis (FSGS) or minimal-change disease (MCD) were included...
July 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
Mohd Ashraf, Virender Kumar, Rifat Ara Bano, Khursheed Ahmed Wani, Javed Ahmed, Kaisar Ahmed
INTRODUCTION: Definite paucity of data pertaining to spectrum of renal and urinary tract diseases in our state and in various parts of India forms the basis of this study. Available data has emphasized more on specific clinical syndromes and chronic renal diseases rather than over all spectrums of renal and urinary tract diseases, that too in adult population. AIM: The present study a retrospective analysis, forms one of the basic data of paediatric nephrology and urology related disorders in our state...
June 2016: Journal of Clinical and Diagnostic Research: JCDR
Jianghui Hou
PURPOSE OF REVIEW: The paracellular pathway through the tight junction provides an important route for chloride reabsorption in the collecting duct of the kidney. This review describes recent findings of how defects in paracellular chloride permeation pathway may cause kidney diseases and how such a pathway may be regulated to maintain normal chloride homeostasis. RECENT FINDINGS: The tight junction in the collecting duct expresses two important claudin genes - claudin-4 and claudin-8...
September 2016: Current Opinion in Nephrology and Hypertension
Lorenna Andrade Veloso, Maria Júlia Gonçalves de Mello, José Pacheco Martins Ribeiro Neto, Leopoldo Nelson Fernandes Barbosa, Eduardo Just da Costa E Silva
INTRODUCTION: Lower urinary tract dysfunction (LUTD) are voiding dysfunctions without anatomical or neurological defects. The diagnosis is primarily clinical, with symptoms standardized by the International Children's Continence Society. Few studies relate quality of life of patients with cognitive and school performance. OBJECTIVE: To evaluate milestones of bladder control, daily problems, quality of life (QoL), cognitive function and school performance of children with LUTD...
June 2016: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
Kibriya Fidan, Ipek Isik Gonul, Bahar Büyükkaragöz, Emel Isiyel, Turgay Arinsoy, Oguz Soylemezoglu
Renal biopsy is the gold standard method for determining the diagnosis, treatment, and prognosis in children with renal disease. This study aims to evaluate the histopathological features of pediatric renal biopsies obtained from the national nephrology registry in the last two decades. Data recorded in the Turkish Society of Nephrology Registry System (TSNRS) in 1991 as well as in between 2001 and 2010 were analyzed. A total of 3892 biopsies were recorded; with the least number in 1991 (total 103 biopsies from 17 centers) and the highest number in 2008 (total 654 biopsies from 23 centers)...
September 2016: Renal Failure
Omar Bjanid, Piotr Adamczyk, Małgorzata Stojewska, Dagmara Roszkowska-Bjanid, Magdalena Paszyna-Grześkowiak, Agnieszka Jędzura, Joanna Oświęcimska, Katarzyna Ziora, Aurelia Morawiec-Knysak, Maria Szczepańska
A 14-year-old Caucasian girl with a history of primary hypoparathyroidism and unstable calcium and phosphorus levels and on ongoing treatment was admitted to the Department of Pediatric Nephrology because of the onset of nephrocalcinosis and difficulties achieving normocalcemia. Coexistence of hypoparathyroidism, oral candidiasis, dental enamel hypoplasia, and subclinical Hashimoto's disease was strongly suggestive for autoimmune polyglandular syndrome (APS) type I. One of the clinical implications of this diagnosis is the high probability of future occurrence of adrenal insufficiency and hence the importance of maintaining a high level of suspicion in case of the onset of symptoms like weakness, fainting, hypotonia, or hyperkaliemia...
July 6, 2016: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
Manoj Bhattarai
Geriatric syndrome is common among older patients on dialysis. Basic knowledge about its prevalence and management is crucial for nephrologists to provide standard patient care. In busy clinical settings, up-to-date and holistic medical care can be delivered to elderly dialysis patients by collaboration of nephrology and geriatrics teams, or in part by training nephrology fellows the basics of geriatrics. [Full article available at, free with no login].
2016: Rhode Island Medical Journal
Marijn F Stokman, Kirsten Y Renkema, Rachel H Giles, Franz Schaefer, Nine V A M Knoers, Albertien M van Eerde
Next-generation sequencing (NGS) has led to the identification of previously unrecognized phenotypes associated with classic kidney disease genes. In addition to improving diagnostics for genetically heterogeneous diseases and enabling a faster rate of gene discovery, NGS has enabled an expansion and redefinition of nephrogenetic disease categories. Findings from these studies raise the question of whether disease diagnoses should be made on clinical grounds, on genetic evidence or a combination thereof. Here, we discuss the major kidney disease-associated genes and gene categories for which NGS has expanded the phenotypic spectrum...
August 2016: Nature Reviews. Nephrology
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