Search Results - "Milford, David V."
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The definition of acute kidney injury and its use in practice
Published in Kidney international (01-01-2015)“…Acute kidney injury (AKI) is a common syndrome that is independently associated with increased mortality. A standardized definition is important to facilitate…”
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FAT1 mutations cause a glomerulotubular nephropathy
Published in Nature communications (24-02-2016)“…Steroid-resistant nephrotic syndrome (SRNS) causes 15% of chronic kidney disease (CKD). Here we show that recessive mutations in FAT1 cause a distinct renal…”
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Daily low-dose prednisolone to prevent relapse of steroid-sensitive nephrotic syndrome in children with an upper respiratory tract infection: PREDNOS2 RCT
Published in Health technology assessment (Winchester, England) (01-01-2022)“…Most children with steroid-sensitive nephrotic syndrome have relapses that are triggered by upper respiratory tract infections. Four small trials, mostly in…”
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ANCA-associated glomerulonephritis/systemic vasculitis in childhood: clinical features–outcome
Published in Pediatric nephrology (Berlin, West) (01-10-2012)“…Background Antineutrophil cytoplasmic antibody (ANCA)-associated glomerulonephritis and systemic vasculitis (AAGNV) is uncommon in childhood. Methods This is a…”
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Human Hypertension Caused by Mutations in WNK Kinases
Published in Science (American Association for the Advancement of Science) (10-08-2001)“…Hypertension is a major public health problem of largely unknown cause. Here, we identify two genes causing pseudohypoaldosteronism type II, a Mendelian trait…”
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Bone Mineral Density and Vascular Calcification in Children and Young Adults With CKD 4 to 5 or on Dialysis
Published in Kidney international reports (01-02-2023)“…Older adults with chronic kidney disease (CKD) can have low bone mineral density (BMD) with concurrent vascular calcification. Mineral accrual by the growing…”
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Proteinuric kidney disease in children at Queen Elizabeth Central Hospital, Malawi
Published in BMC nephrology (31-01-2018)“…There is a paucity of data on paediatric kidney disease in developing countries such as Malawi. Descriptive research on kidney disease is essential to…”
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The Incidence of Paediatric Acute Kidney Injury Identified Using an AKI E-Alert Algorithm in Six English Hospitals
Published in Frontiers in pediatrics (11-02-2020)“…Acute kidney injury (AKI) is a significant cause of morbidity and mortality among hospitalised patients. The objectives in this study were (i) to investigate…”
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Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia
Published in Nature genetics (01-02-2002)“…Schimke immuno-osseous dysplasia (SIOD, MIM 242900) is an autosomal-recessive pleiotropic disorder with the diagnostic features of spondyloepiphyseal…”
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10
Response to “Susceptibility to diabetic nephropathy”
Published in Pediatric nephrology (Berlin, West) (01-06-2024)Get full text
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Kidney transplantation in low- and middle-income countries: the Transplant Links experience
Published in Pediatric nephrology (Berlin, West) (01-05-2024)“…Paediatric kidney failure is a global problem responsible for significant childhood morbidity and mortality. The gold-standard treatment is kidney…”
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Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?
Published in Orphanet journal of rare diseases (22-09-2012)“…Arteriosclerosis and emphysema develop in individuals with Schimke immuno-osseous dysplasia (SIOD), a multisystem disorder caused by biallelic mutations in…”
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13
Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome
Published in Journal of the American Society of Nephrology (01-03-2017)“…Bardet-Biedl syndrome is a rare autosomal recessive, multisystem disease characterized by retinal dystrophy, renal malformation, obesity, intellectual…”
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OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability
Published in Nephron. Physiology (01-01-2009)“…Dent disease is an X-linked renal proximal tubulopathy associated with mutations in CLCN5 (Dent 1) or OCRL1 (Dent 2). OCRL1 mutations also cause the…”
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Kidney biopsy findings in children with diabetes mellitus
Published in Pediatric nephrology (Berlin, West) (01-06-2024)“…Background Diabetic nephropathy may begin in childhood, but clinical kidney disease ascribable to this is uncommon in children with type 1 (insulin dependent)…”
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Routine serum biomarkers, but not dual-energy X-ray absorptiometry, correlate with cortical bone mineral density in children and young adults with chronic kidney disease
Published in Nephrology, dialysis, transplantation (27-09-2021)“…Abstract Background. Biomarkers and dual-energy X-ray absorptiometry (DXA) are thought to be poor predictors of bone mineral density (BMD). The Kidney Disease:…”
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Long-term outcomes and response to treatment in diacylglycerol kinase epsilon nephropathy
Published in Kidney international (01-06-2020)“…Recessive mutations in diacylglycerol kinase epsilon (DGKE) display genetic pleiotropy, with pathological features reported as either thrombotic…”
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Successful ABO and HLA incompatible kidney transplantation in children in the UK
Published in Pediatric nephrology (Berlin, West) (01-02-2023)“…Background There is increasing evidence of good short-term and medium-term outcomes of ABO incompatible (ABOi) and HLA incompatible (HLAi) kidney…”
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Fatal disseminated cowpox virus infection in an adolescent renal transplant recipient
Published in Pediatric nephrology (Berlin, West) (01-03-2017)“…Background A 17-year-old boy on long-term immunosuppression following renal transplantation for chronic kidney disease (CKD), the result of dysplastic kidneys,…”
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Evaluation of Daily Low-Dose Prednisolone During Upper Respiratory Tract Infection to Prevent Relapse in Children With Relapsing Steroid-Sensitive Nephrotic Syndrome: The PREDNOS 2 Randomized Clinical Trial
Published in JAMA pediatrics (01-03-2022)“…In children with corticosteroid-sensitive nephrotic syndrome, many relapses are triggered by upper respiratory tract infections. Four small studies found that…”
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