Results 41 to 50 of about 5,947 (218)
Equine Veterinary Journal, EarlyView.Abstract Background The molecular mechanisms underlying adaptation to physical exertion and racing stress in horses remain incompletely understood. Peripheral blood transcriptomics offers a minimally invasive method to monitor systemic responses to exercise and identify biomarkers of adaptation or overload. Objectives To evaluate transcriptomic changes
Izabela Dąbrowska +4 more
wiley +1 more source
Coexistence of Hereditary Spherocytosis and Gilbert's Syndrome among Tunisian patients
, 2019 Hereditary spherocytosis (HS) is an inherited disorder characterized by intrinsic defects in the red cell membrane proteins. The molecular abnormality is heterogeneous and may affect several membrane proteins including spectrin, ankyrin, band 3 and ...
Nawel Trabelsi (8324289), Nawel Trabelsi
core +1 more source
Journal of Clinical Laboratory Analysis, EarlyView.Serum Apelin‐13 and Galectin‐3 levels were measured by ELISA in COVID‐19–positive patients and controls and evaluated alongside routine biochemical parameters. COVID‐19 patients showed significant alterations in liver, renal, inflammatory, and metabolic markers.
İsmail Uğurlu
wiley +1 more source
Journal of Clinical Laboratory Analysis, EarlyView.Clinical utility of trio WGS and time metrics in a neonate with congenital anomalies and hemolytic anemia. ABSTRACT Background Neonates with complex and evolving phenotypes often lack sufficiently specific clinical features to guide targeted genetic testing.
Hyun‐Woo Lee +8 more
wiley +1 more source
Nutritional status and hyperbilirubinemia in the first month of life children: a pediatric view
, 2023 One of the most important characteristics of a child's health is physical development, which depends on many factors and reflects not only hereditary predisposition, but also the influence of all environmental factors (national and regional features of ...
Kravchenko, T. +7 more
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Measurement of Plasma Free Hemoglobin Using the Hemolysis Index of the Mindray BS‐800
Journal of Clinical Laboratory Analysis, EarlyView.The Mindray BS‐800 Hemolysis Index provides accurate and reliable measurement of plasma free hemoglobin. Offering an alternative to the Harboe reference method, this technique improves safety and turnaround time. It has strong potential to serve as a practical laboratory marker for accurately differentiating intravascular hemolysis from other causes of
Punchisa Viruttanachai +5 more
wiley +1 more source
Identification of a novel ANK1 mutation in hereditary spherocytosis co‐existing with BWS
Molecular Genetics & Genomic Medicine, 2022 Background Beckwith–Wiedemann syndrome (BWS) is an inherited disorder affecting 1 in 10,500 to 13,700 newborns worldwide. The disease is caused in a vast majority of patients by a molecular defect in the imprinted chromosome 11p15.5.
Qinghua Zhang +15 more
doaj +1 more source
Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis
Prenatal Diagnosis, EarlyView.ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell +6 more
wiley +1 more source
Pediatric Investigation, EarlyView.Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil +2 more
wiley +1 more source
Developmental, Genetic, Dietary, and Xenobiotic Influences on Neonatal Hyperbilirubinemia
, 2020 Hyperbilirubinemia, caused by the accumulation of unconjugated bilirubin, is one of the most common clinical diagnoses in both premature and term newborns.
Mei-Fei Yueh +3 more
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