Expansions of simple tandem repeats are responsible for almost 50 human diseases, the
majority of which are severe, degenerative, and not currently treatable or preventable. In this …

Abstract Background Congenital Central Hypoventilation Syndrome (CCHS) is a rare
condition characterized by an alveolar hypoventilation due to a deficient autonomic central …

Clinical practice related to sleep problems and sleep disorders has been expanding rapidly
in the last few years, but scientific research is not keeping pace. Sleep apnea, insomnia, and …

Many stressors cause an increase in ventilation in humans. This is predominantly reported
as an increase in minute ventilation (). But, the same can be achieved by a wide variety of …

Hirschsprung disease (HSCR, aganglionic megacolon) represents the main genetic cause
of functional intestinal obstruction with an incidence of 1/5000 live births. This …

The gastrointestinal tract contains its own set of intrinsic neuroglial circuits—the enteric
nervous system (ENS)—which detects and responds to diverse signals from the …

Background: Congenital central hypoventilation syndrome (CCHS) is characterized by
alveolar hypoventilation and autonomic dysregulation. Purpose:(1) To demonstrate the …

Central chemoreception traditionally refers to a change in ventilation attributable to changes
in CO 2/H+ detected within the brain. Interest in central chemoreception has grown …

Purpose Whole-exome sequencing (WES) and whole-genome sequencing (WGS) are used
to diagnose genetic and inherited disorders. However, few studies comparing the detection …

Neurophysiologically, central apnea is due to a temporary failure in the pontomedullary
pacemaker generating breathing rhythm. As a polysomnographic finding, central apneas …