Results 201 to 210 of about 172,502 (268)

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Preoperative acute kidney injury predicts the need for post-LVAD renal replacement therapy. [PDF]

BMC Nephrol
Dorton CW, George TJ, Rusia A, Afzal A, Kabra N, Milligan G, Rawitscher DA, Nazeer H, Van Buren P, Liu H.   +9 more
europepmc   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Prefilled versus infused regional citrate anticoagulation during continuous renal replacement therapy on circuit lifespan: protocol for a randomised controlled trial. [PDF]

BMJ Open
Zou H, Wang F, Mali N, Yang Y, Zhang L.
europepmc   +1 more source

Clinical Staging Versus Biomarker-Guided Initiation of Continuous Renal Replacement Therapy: A Systematic Review and Meta-Analysis. [PDF]

Cureus
Tran K, Bach D, Wilkins GM, Brar PS, Yamada Z, El-Hefnawy T.   +5 more
europepmc   +1 more source

Outcomes of MagLev LVAD Support in Patients Requiring Preoperative Continuous Renal Replacement Therapy. [PDF]

J Clin Med
He CL, Rust CJ, Kusher IM, El Sammak S, Tang A, Preston JD, Randhawa SS, Halkos ME, Bishawi MM, Daneshmand MA, Chan JL.   +10 more
europepmc   +1 more source

Interference of Continuous Renal Replacement Therapy on PiCCO Hemodynamic Monitoring: A Case Report. [PDF]

Clin Case Rep
Lin X, Suo Z, Liu X, Zhang H, Yuan Y.
europepmc   +1 more source

Prediction of filter clotting using longitudinal trends of circuit pressure parameters during continuous renal replacement therapy (CRRT): an exploratory study. [PDF]

Sci Rep
Hu Y, Hu Z, Li C, Yang X, Ge Y, Gong D.
europepmc   +1 more source

Lower versus standard dose-intensity continuous renal replacement therapy: a protocol for a systematic review and meta-analysis. [PDF]

BMJ Open
Lumlertgul N, Kusirisin P, Kung JY, Duquette D, Fujii T, Zarbock A, Wald R, Bagshaw SM.   +7 more
europepmc   +1 more source

Sickle Cell Disease and Kidney Injury: Circulating Uromodulin Allows Early Tissue Specific Diagnosis and Monitoring of Treatment

American Journal of Hematology, EarlyView.
Ferras Alashkar, Robert Hable, Denise Zwanziger, Friederike Poppenborg, Raina Yamamoto, Hans Christian Reinhardt, Alexander Röth, Victor Herbst, Yara Bestmann, Marco Kai, Jürgen E. Scherberich   +10 more
wiley   +1 more source