Results 251 to 260 of about 935,466 (405)

Cystatin C as Biomarker for the Evaluation of Renal Outcome in AL Amyloidosis

open access: yesAmerican Journal of Hematology, EarlyView.
ABSTRACT Cystatin C (CysC) has emerged as a novel and potentially more reliable biomarker for the estimation of glomerular filtration in the general population in patients with various conditions. In AL amyloidosis, the current renal staging system and renal response criteria are based on proteinuria and creatinine‐based eGFR.
Foteini Theodorakakou   +18 more
wiley   +1 more source

Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.
ABSTRACT An illustration of the importance of manual data review for identifying rare intronic variants adjacent to homopolymers is presented here. A 14‐year‐old male with Niemann‐Pick Type C disease confirmed biochemically was only found to have a heterozygous pathogenic variant by molecular analysis. A manual review of the Next Generation Sequencing (
Caroline Gully Brown   +6 more
wiley   +1 more source

Case Report: Unusual Neurological Features of Leigh Syndrome due to m.8993T>G Pathogenic Variant in the MT‐ATP6 Gene

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel   +2 more
wiley   +1 more source

Corrigendum: Frequency, Risk Factors, and Prognosis of Dehydration in Acute Stroke

open access: yesFrontiers in Neurology, 2020
Elena Cortés-Vicente   +6 more
doaj   +1 more source

Machine learning based clinical decision tool to predict acute kidney injury and survival in therapeutic hypothermia treated neonates. [PDF]

open access: yesSci Rep
Keles E   +17 more
europepmc   +1 more source

MOF Coating Enhances the Ion Tolerance of Micromotors

open access: yesAngewandte Chemie, EarlyView.
This work reported a novel method to significantly enhance the ion tolerance of EMNMs using a MOF coating via controllable heteroepitaxial growth, enabling effective motion in high‐salt environments and propulsion through biological tissues under 980 nm NIR light, with potential applications in targeted drug delivery.
Leyan Ou   +10 more
wiley   +2 more sources

Metabolic alterations in human pulmonary artery smooth muscle cells treated with PDGF‐BB

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Metabolic abnormalities are considered to play a key regulatory role in vascular remodeling of pulmonary arterial hypertension. We analyzed the metabolome in the culture supernatants of human pulmonary artery smooth muscle cells (PASMC) during the malignant proliferation phenotype transition via a targeted metabolomics method. Significant and extensive
Meng‐Jie Zhang   +9 more
wiley   +1 more source

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