Studies have shown that protein-energy malnutrition in adolescents with anorexia nervosa (AN) is an under-recognized cause of muscle dysfunction. However, the detrusor instability in adolescents with AN has never, to our ...

There are more than 8000 rare diseases (RDs) that affect >5 % of the world’s population. Many of the RDs have no effective treatment and lack of knowledge creates delayed diagnosis making management difficult. The emerging ...

Inflammatory bowel disease (IBD) is a chronic inflammatory disease of the gastrointestinal tract. Very early onset IBD and early onset IBD are terms used to describe IBD that first presents before the age of six and before ...

Nuclear factor-B (NF-B) is involved in the regulation of inflammation-associated genes. NF-B forms dimers which bind with sequences referred to as NF-B sites (9-11 bp). A disintegrin-like and metalloproteinase with ...

The NOTCH signaling pathway plays important role in the development of multicellular organisms, as it regulates cell proliferation, survival, and differentiation. In adults, it is essential for the T- or B-lymphocyte lineage ...

Ciliopathies are a broad group of diseases that arise due to mutations in genes coding for proteins associated with cilia and centrosomes. The aim of this study is to elucidate the molecular etiology in patients with a ...