New deletion in causing familial Danon disease. Effect of the X-chromosome inactivation.

Danon disease (DD), a rare X-linked genetic illness with a poor prognosis, is caused by a mutation in the lysosome-associated membrane protein 2 gene (LAMP2). Three main clinical features of this pathology are cardiomyopathy, skeletal myopathy, and mental retardation. Most Danon disease mutations create premature stop codons resulting in the decrease or absence of LAMP2 protein.

Pyridazinones and Structurally Related Derivatives with Anti-Inflammatory Activity.

Persistent inflammation contributes to a number of diseases; therefore, control of the inflammatory response is an important therapeutic goal. In an effort to identify novel anti-inflammatory compounds, we screened a library of pyridazinones and structurally related derivatives that were used previously to identify N-formyl peptide receptor (FPR) agonists. Screening of the compounds for their ability to inhibit lipopolysaccharide (LPS)-induced nuclear factor κB (NF-κB) transcriptional activity in human THP1-Blue monocytic cells identified 48 compounds with anti-inflammatory activity.

Splicing mutation in gene leading to exon skipping and Barth syndrome.

Barth syndrome is a monogenic X-linked disorder characterized by cardiomyopathy, skeletal myopathy and neutropenia. It is caused by deficiency of cardiolipin and associated with mutations in the tafazzin gene (). A 3 years old boy with dilated cardiomyopathy, neutropenia and growth retardation was investigated.

Solution blow spinning of PLLA/hydroxyapatite composite scaffolds for bone tissue engineering.

Composite poly-L-lactide acid-based scaffolds with hydroxyapatite (HAp) content up to 75 wt.% were fabricated via solution blow spinning. The influence of HAp concentration on structure, wettability, mechanical properties and chemical and phase composition of the produced materials was examined.