Results 181 to 190 of about 17,483 (248)
Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden +2 more
wiley +1 more source
A Case of Isolated Trichothiodystrophy. [PDF]
Ravichandran J, Rai R, Gurusamy U.
europepmc +1 more source
ABSTRACT This scoping review examined neuroimaging evidence relating screen‐based technology use to brain development in children aged 0–12 years. Nine studies were included. Most reported associations between higher screen exposure and less favorable neurodevelopmental outcomes, including reduced cortical thickness, lower gray and white matter ...
Emma Nimmo, Minh Chau
wiley +1 more source
Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva +5 more
wiley +1 more source
Diagnosis and Management of Comorbid Autoimmune Disorders in Children with Chronic Spontaneous Urticaria. [PDF]
Bendayan E +4 more
europepmc +1 more source
A dual‐network bFGF@CB‐gel integrates: i) ChSMA scaffold (mechanical support/BMSCs delivery); ii) BC carrier (sustained bFGF release via EGFL/Itga2b and COMP/PI3K/AKT for adhesion/osteogenesis); iii) bFGF/PI3K/AKT/eNOS for angiogenesis. This rational, synergistic design addresses CSD bone regeneration challenges.
Yunze Feng +12 more
wiley +1 more source
Isotretinoin-Associated Eruptive Milia: A Rare Adverse Effect. [PDF]
AlQaydi F, AlMarzouqi E.
europepmc +1 more source
ABSTRACT Riboflavin (RIB), or vitamin B2, plays a key role in cellular protection against oxidative stress, and its deficiency can cause severe physiological complications, including metabolic disorders, photosensitivity, anaemia, growth delay and gastrointestinal problems.
Rokhsareh Ebrahimi +2 more
wiley +1 more source
TNFSF4/OX40L and IKZF1/IKAROS Genetic Variant Associations with Egyptian Juvenile Systemic Lupus Erythematosus (JSLE). [PDF]
Attia ZR +8 more
europepmc +1 more source
Figure 1 visually summarizes the core biological functions and therapeutic potential of the HGF/c‐Met signaling axis. Abstract Hepatocyte growth factor (HGF) is a multifunctional cytokine that activates the tyrosine kinase activity of its specific receptor, c‐Met (mesenchymal–epithelial transition factor).
Hongqin Sun +7 more
wiley +1 more source

