Search results for: Damien Brackman

Items from 1 to 8 out of 8 results

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Estimating glomerular filtration rate in children: evaluation of creatinine- and cystatin C-based equations

Cathrin L Salvador, Camilla Tøndel, Alexander D Rowe, Anna Bjerre, more

Pediatric Nephrology > 2019 > 34 > 2 > 301-311

Background Glomerular filtration rate (GFR) estimated by creatinine- and/or cystatin C-based equations (eGFR) is widely used in daily practice. The purpose of our study was to compare new and old eGFR equations with measured GFR (mGFR) by iohexol clearance in a cohort of children with chronic kidney disease (CKD). Methods We examined 96 children (median age 9.2 years (range 0.25–17.5)) with CKD...

article

Iohexol plasma clearance in children: validation of multiple formulas and single-point sampling times

Camilla Tøndel, Cathrin Lytomt Salvador, Karl Ove Hufthammer, Bjørn Bolann, more

Pediatric Nephrology > 2018 > 33 > 4 > 683-696

Background The non-ionic agent iohexol is increasingly used as the marker of choice for glomerular filtration rate (GFR) measurement. Estimates of GFR in children have low accuracy and limiting the number of blood-draws in this patient population is especially relevant. We have performed a study to evaluate different formulas for calculating measured GFR based on plasma iohexol clearance with blood...

article

Erratum to: Iohexol plasma clearance in children: validation of multiple formulas and two-point sampling times

Camilla Tøndel, Bjørn Bolann, Cathrin Lytomt Salvador, Damien Brackman, more

Pediatric Nephrology > 2017 > 32 > 2 > 375-376

The online version of the original article can be found at http://dx.doi.org/ 10.1007/s00467-016-3436-z .

article

Iohexol plasma clearance in children: validation of multiple formulas and two-point sampling times

Camilla Tøndel, Bjørn Bolann, Cathrin Lytomt Salvador, Damien Brackman, more

Pediatric Nephrology > 2017 > 32 > 2 > 311-320

Background In children, estimated glomerular filtration rate (eGFR) methods are hampered by inaccuracy, hence there is an obvious need for safe, simplified, and accurate measured GFR (mGFR) methods. The aim of this study was to evaluate different formulas and determine the optimal sampling points for calculating mGFR based on iohexol clearance measurements on blood samples drawn at two time points...

article

NPHS2 Mutations in Steroid‐Resistant Nephrotic Syndrome: A Mutation Update and the Associated Phenotypic Spectrum

Karim Bouchireb, Olivia Boyer, Olivier Gribouval, Fabien Nevo, more

Human Mutation > 35 > 2 > 178 - 186

Mutations in the NPHS2 gene encoding podocin are implicated in an autosomal‐recessive form of nonsyndromic steroid‐resistant nephrotic syndrome in both pediatric and adult patients. Patients with homozygous or compound heterozygous mutations commonly present with steroid‐resistant nephrotic syndrome before the age of 6 years and rapidly progress to end‐stage kidney disease with a very low prevalence...

article

Spectrum of mutations in the renin–angiotensin system genes in autosomal recessive renal tubular dysgenesis

Olivier Gribouval, Vincent Morinière, Audrey Pawtowski, Christelle Arrondel, more

Human Mutation > 33 > 2 > 316 - 326

Autosomal recessive renal tubular dysgenesis (RTD) is a severe disorder of renal tubular development characterized by early onset and persistent fetal anuria leading to oligohydramnios and the Potter sequence, associated with skull ossification defects. Early death occurs in most cases from anuria, pulmonary hypoplasia, and refractory arterial hypotension. The disease is linked to mutations in the...

article

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

Cecilie Bredrup, Sophie Saunier, Machteld M. Oud, Torunn Fiskerstrand, more

The American Journal of Human Genetics > 2011 > 89 > 5 > 634-643

A subset of ciliopathies, including Sensenbrenner, Jeune, and short-rib polydactyly syndromes are characterized by skeletal anomalies accompanied by multiorgan defects such as chronic renal failure and retinitis pigmentosa. Through exome sequencing we identified compound heterozygous mutations in WDR19 in a Norwegian family with Sensenbrenner syndrome. In a Dutch family with the clinically overlapping...

article

Expression of cell surface antigens during the differentiation of HL-60 cells induced by 1,25-dihydroxyvitamin D ₃ , retinoic acid and DMSO

Damien Brackman, Fridtjof Lund-Johansen, Dagfinn Aarskog

Leukemia Research > 1995 > 19 > 1 > 57-64

HL-60 cells were induced to differentiate by 1,25-dihydroxyvitamin D ₃ , retinoic acid or DMSO. In order to investigate to which extent this maturation mimics the in vivo monocytic or myeloid differentiation, we compared induced HL-60 cells with peripheral blood monocytes and granulocytes by using a panel of mAbs directed against myeloid cell surface antigens. Upon exposure to 1,25-(OH)...

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