Congenital central hypoventilation syndrome in korea: 20 years of clinical observation and evaluation of the ventilation strategy in a single center.

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder characterized by hypoventilation due to impaired breathing control by the central nervous system and other symptoms of autonomic dysfunction. Mutations in paired-like homeobox 2 B (PHOX2B) are responsible for most cases of CCHS. Patients with CCHS have various phenotypes and severities, making the diagnosis difficult.

Clinical significance of PI3K/Akt/mTOR signaling in gastric carcinoma.

The mTOR signaling pathway has been linked to various cancers, but the contribution of alterations in this pathway to clinicopathological characteristics have not been established in gastric cancer. To investigate mutations and the expression of proteins in the PI3K/Akt/mTOR signaling pathway in sporadic gastric cancer. We analyzed mutation and microsatellite instability as well as immunohistochemical expressions of p-Akt, PTEN, p-mTOR, p-4EBP1, p-S6, p-p70S6, and eIF4E in 368 FFPE (formalin-fixed paraffin embedded) tissue from patients with sporadic gastric cancer.