Results 71 to 80 of about 20,351 (260)
ESC Heart Failure, Volume 12, Issue 2, Page 1316-1325, April 2025.Abstract Objective This study aimed to evaluate the utility of left atrial volume and function in uraemic patients using four‐dimensional automatic left atrial quantification (4D auto LAQ) technology. Methods Thirty‐four undialysed uraemic patients (U‐ND group), 60 dialysed uraemic patients (U‐D group), and 32 healthy volunteers (N group) were enrolled
Bing Li, Meihua Chen, Xuning Huang
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The Challenge of Diagnosis and Indication for Treatment in Fabry Disease
Journal of Inborn Errors of Metabolism and Screening, 2017 Fabry disease, caused by deficient alpha-galactosidase A lysosomal enzyme activity, remains challenging to health-care professionals. Laboratory diagnosis in males is carried out by determination of alpha-galactosidase A activity; for females, enzymatic ...
Marco A. Curiati MD +7 more
doaj +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
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Neonatal seizures: Advances in diagnosis and management
Epilepsia Open, EarlyView.Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz +2 more
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Epilepsia Open, EarlyView.Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira +5 more
wiley +1 more source
CNTF protects oligodendrocytes from ammonia toxicity: Intracellular signaling pathways involved
Neurobiology of Disease, 2009 In pediatric patients, hyperammonemia can provoke irreversible damages to developing CNS like cortical atrophy, ventricular enlargement, demyelination or gray and white matter hypodensities which are concordant with alterations of neurons and ...
Laurène Cagnon, Olivier Braissant
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Inborn errors of copper metabolism [PDF]
, 2013 Two copper-transporting ATPases are essential for mammalian copper homeostasis: ATP7A, which mediates copper uptake in the gastrointestinal tract and copper delivery to the brain, and ATP7B, which mediates copper excretion by the liver into bile. Mutations in ATP7A may cause three distinct X-linked conditions in infants, children, or adolescents ...
openaire +2 more sources
International Journal of Gynecology &Obstetrics, EarlyView.Abstract Objective This study determines whether a machine‐learning model integrating sonographic biometry with maternal clinical parameters improves prediction of large‐for‐gestational‐age (LGA) compared with Hadlock's EFW formula. Methods We conducted a retrospective cohort study including all singleton live births at ≥32 gestational weeks at a ...
Ohad Houri +7 more
wiley +1 more source
Role of caspases, calpain and cdk5 in ammonia-induced cell death in developing brain cells
Neurobiology of Disease, 2008 Hyperammonemia in neonates and infants causes irreversible damages in the developing CNS due to brain cell loss. Elucidating the mechanisms triggering ammonia-induced cell death in CNS is necessary for the development of neuroprotective strategies.
Laurène Cagnon, Olivier Braissant
doaj +1 more source
International Journal of Gynecology &Obstetrics, EarlyView.Abstract Objective While cardiometabolic comorbidities have been well established in adults with polycystic ovary syndrome (PCOS), it remains unclear whether the early signs of cardiovascular morbidity emerge during adolescence. This study aimed to investigate whether metabolic and cardiovascular alterations begin in adolescents with PCOS.
Demet Aygün Ari +8 more
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