(NREM) sleep. More severely affected patients hypoventilate while both awake and asleep.1Although CCHS is typically diagnosed in the newborn period, patients may be diagnosed later in childhood and in adulthood.2About 90% of CCHS patients are heterozygous for thePHOX2Bpolyalanine repeat expansion ...
Switch tonew thesaurus Noun1.cyanosis- a bluish discoloration of the skin and mucous membranes; a sign that oxygen in the blood is dangerously diminished (as in carbon monoxide poisoning) symptom- (medicine) any sensation or change in bodily function that is experienced by a patient and is ass...
The ventilatory decrease caused by hyperoxia was larger in newborn PHOX2b +/− mutant mice than in their wild-type littermates and was magnified by longer apnea durations, which suggested stronger tonic activity of oxygen-sensitive peripheral or central chemoreceptors. Sleep apnoea time was ...
Conclusions Genetic deficiency of Phox2b induced sleep apneas and hypoventilation in newborn mice, thus providing the first transgenic mouse model of sleep-disordered breathing of infancy. The respi...Sasaki A, Kanai M, Kijima K, Akaba K, Hashimoto M, Hasegawa H, Otaki S, Koizumi T, Kusuda ...
Newborn mice prenatally exposed to nicotine exhibit unstable breathing and impaired arousal. Remarkably similar deficits are detected in pups lacking β2-containing nAChRs. Loss-of-function of these nAChRs reproduces many of the abnormalities caused by perinatal nicotine exposure suggesting that nicotine'...
PHOX2B mutation-confirmed congenital central hypoventilation syndrome in a Chinese family: presentation from newborn to adulthood. Congenital central hypoventilation syndrome (CCHS) is characterized by compromised chemoreflexes resulting in sleep hypoventilation. We report a Chinese fa... Peilin Lee, MD,Yi...
central sleep apnea (CSA) disorders is the presence of ventilatory control instability; however, additional mechanisms play a role in one or more specific manifestations of CSA. CSA may manifest during conditions of eucapnia/hypocapnia or chronic hypercapnia, which is a useful clinical classification ...
Newborn screening NGS: Next-generation sequencing NICU: Neonatal Intensive Care Units OSA: Obstructive sleep apnoea oSDB: obstructive sleep-disordered breathing (oSDB) SARNePI: Italian Society of Pediatric Anesthesia SH: Subclinical hypothyroidism SICP: Italian Society of Pediatric Surgery (SICP...
newbornPHOX2b+/−mutant mice than in their wild-type littermates and was magnified by longer apnea durations, which suggested stronger tonic activity of oxygen-sensitive peripheral or central chemoreceptors. Sleep apnoea time was increased about 6-fold in 5-day oldPHOX2b+/−mutant pups and ...
newbornsleepapneasyndromesCentral hypoventilation syndrome is defined as the failure of automatic control of breathing. Secondary central hypoventilation syndrome should distinguish from congenital central hypoventilation syndrome by brainstem abnormalities, place of respiratory control.Case reports. – We ...