Results 121 to 130 of about 481,331 (283)
Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang +10 more
wiley +1 more source
Evidence of Iron Accumulation in Cerebral Adrenoleukodystrophy: A Potential Novel Disease Mechanism
ABSTRACT In this first application of Quantitative Susceptibility Mapping Source Separation to cerebral adrenoleukodystrophy, we uncovered alterations in iron and myelin within lesions and normal appearing white matter. As validation, we demonstrate abnormal iron accumulation in those same compartments within primary brain tissue.
Christina L. Nemeth +8 more
wiley +1 more source
Keynesian cross: diagrammatical interpretations of effective demand [PDF]
The General Theory of Employment, Interest and Money by John Maynard Keynes led up to three cross-shaped graphical interpretations: the IS-LM model, the 45º model and the Z-D model. The first one was originated from Hicks (1937) well-known paper, despite
Dessotti, Marina, Heller, Claudia
core +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
The treatment of Argentina in seven middle-grade geography textbooks [PDF]
Thesis (Ed.
Carney, James Francis
core +1 more source
ABSTRACT Background X‐linked adrenoleukodystrophy (X‐ALD) is a neurometabolic disorder caused by pathogenic variants in ABCD1, leading to slowly progressive spinal cord disease in nearly all affected men. Sensitive biomarkers to quantify disease severity and predict progression are needed for clinical care and trial design.
Eda G. Kabak +4 more
wiley +1 more source
Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar +3 more
wiley +1 more source
Teores de macronutrientes em melancias fertirrigadas com diferentes doses de nitrogênio e potássio
A melancieira é uma planta cultivada praticamente em quase todo o Brasil, desde regiões mais frias do Rio Grande do Sul até regiões mais quentes do Nordeste brasileiro.
Max Venicius Teixeira da Silva +4 more
doaj
Human Capital Quality in the Brazilian States [PDF]
Quality of human capital seems to be an extremely important feature to be disregarded in the evaluation of this factor impacts on income per worker (rate of growth and level).
Luciano Nakabashi, Márcio A. Salvato
core
Objective This study aimed to characterize the pharmacokinetics, pharmacodynamics, safety, and exploratory efficacy of subcutaneous belimumab in pediatric patients with active systemic lupus erythematosus (SLE) receiving standard therapy. Methods This single‐arm, multicenter, open‐label trial (GSK study 200908; ClinicalTrials.gov identifier ...
Hermine I. Brunner +14 more
wiley +1 more source

