Electrospun poly(ε-caprolactone) (PCL)-based scaffolds are widely used in tissue engineering. However, low cell adhesion remains the key drawback of PCL scaffolds. It is well known that nitrogen-doped diamond-like carbon (N-DLC) coatings deposited on the surface of various implants are able to enhance their biocompatibility and functional properties.
View Article and Find Full Text PDFLimb-girdle muscular dystrophies (LGMD) constitute a heterogeneous group of genetic disorders characterized by progressive muscle weakness and atrophy, predominantly affecting the muscles of the pelvic and shoulder girdles. LGMD R27, linked to biallelic pathogenic variants in the gene, was recently described, and to date, only 27 cases has been published in three reports. Here, we present two siblings exhibiting a severe clinical phenotype of LGMD R27, associated with a novel homozygous frameshift variant [c.
View Article and Find Full Text PDFAn early diagnosis of Stüve-Wiedemann syndrome is crucial due to its high neonatal lethality and the potential for autonomic dysfunction in children. Herein, we describe a patient with a late-onset, arthrogryposis-like phenotype form of Stüve-Wiedemann syndrome. While most cases result in neonatal complications, our patient only presented with camptodactyly, ulnar deviation of the wrist, and minor facial features at birth, resembling an arthrogryposis-like phenotype.
View Article and Find Full Text PDFAs part of the ongoing evolution towards personalized anticancer therapy, mutation screening is becoming increasingly important and, therefore, also alternative detection strategies that allow for fast genetic diagnostics at the point of care. In the case of breast cancer, detecting cancer-associated point mutations in the PIK3CA gene is of particular importance for treatment decisions. We developed a recombinase polymerase amplification assay combined with an enzyme-linked electrochemical assay on multi-channel screen-printed gold sensors for specific and highly sensitive detection of three PIK3CA point mutations (H1047R, E545K, and E542K).
View Article and Find Full Text PDFZh Nevrol Psikhiatr Im S S Korsakova
August 2024
Objective: To evaluate the efficacy of Cortexin in the treatment of patients with post-Covid impairment.
Material And Methods: Treatment results of 109 patients with post-Covid cognitive impairment aged from 42 to 65 years were analyzed. The main group (MG, =52), 29 (55.