Disease relevance of Hypoventilation

• During spontaneous ventilation any hypoxemia must occur due to hypoventilation secondary to the CO2 exchange by the dialyzer and subsequent reduction in pulmonary CO2 exchange [1].
• Germline mutations of predisposing gene(s) are suspected on the basis of rare familial cases and the association of NB with other genetically determined congenital malformations of neural crest-derived cells--namely, Hirschsprung disease (HSCR) and/or congenital central hypoventilation syndrome (CCHS) [2].
• Haploinsufficiency for Phox2b in mice causes dilated pupils and atrophy of the ciliary ganglion: mechanistic insights into human congenital central hypoventilation syndrome [3].
• We also show that Phox2b heterozygous mutants have an altered response to hypoxia and hypercapnia at birth and a decreased tyrosine hydroxylase expression in the petrosal chemosensory neurons, thus providing mechanistic insight into congenital central hypoventilation syndrome, which is associated with heterozygous mutations in PHOX2B [4].
• It appears that small to moderate amounts of alcohol will not cause marked changes in oxygen tension or alveolar hypoventilation in patients with severe COPD who do not have marked hypercapnia [5].

Psychiatry related information on Hypoventilation

• Sleep fragmentation is not a feature of sleep-related hypoventilation due to COPD or neuromusculoskeletal disorders, and an increase of the number of movement arousals (MA) is very suggestive of upper airway dysfunction and of potential success of CPAP [6].

High impact information on Hypoventilation

• Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome [7].
• Rnx deficiency results in congenital central hypoventilation [8].
• BACKGROUND & AIMS: Congenital central hypoventilation syndrome, an unexplained disorder of the central control of breathing that may reflect widespread dysfunction of brainstem structures, is regarded as a form of neuro cristopathy [9].
• Mutations, principally leading to polyalanine expansions within the protein, have been found in patients with congenital central hypoventilation syndrome (CCHS), the cardinal feature of which is an inability to breathe unassisted when asleep [3].
• Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse) [10].

Chemical compound and disease context of Hypoventilation

• This hyperexcitability of fibers could be inhibited by hypoventilation with elevation of PaCO2 or by calcium chloride administration [11].
• After five months, alveolar hypoventilation is abolished as the CO2-sensitive chemoreflex acquires full tolerance to methadone at the maintenance dose level [12].
• This undershoot was significantly attenuated by theophylline, although compared with normal subjects, a slight hypoventilation was observed [13].
• The increase in endogenous progesterone may stimulate breathing and may possibly improve symptoms of hypoventilation [14].
• Upon tapering her prednisone, however, she became dyspneic and manifested hypoventilation secondary to muscle weakness [15].

Biological context of Hypoventilation

• PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome [16].
• 6. The plateau phase of the CO2-output curves at low tidal volumes was usually regular; thus either hypoventilation was uniform, or some ventilation units were totally closed [17].
• Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene [18].
• Maternal exposure to nicotine may result in a reduced metabolic rate and/or chronic hypoventilation in the newborn [19].
• It is not clear whether this improvement is due to 1) a decreased anaerobiosis in the working cell, 2) a decreased cost of breathing resulting from the relative hypoventilation in hyperoxia, 3) the reduction of a possible metabolic depressant-N2, or a combination of these [20].

Anatomical context of Hypoventilation

• 2. Congenital central hypoventilation syndrome (CCHS) is associated with ineffective chemoreceptor regulation of breathing and severe hypoventilation during sleep (requiring mechanical ventilation) reflecting abnormalities in the brainstem respiratory complex or its chemoreceptor input [21].
• Hyper- and hypoventilation affects spinal motor neuron excitability during isoflurane anesthesia [22].
• DEPC, in a dose-dependent fashion, induced resting hypoventilation and inhibited (1) the ventilatory response to CO2 in peripherally chemodenervated animals, and (2) both the PaCO2 and minute ventilation responses to ICM infusion of an acidic mock cerebrospinal fluid (CSF) [23].
• We believe that shortening of the time required to reach baseline in the hypoxic studies, and hypoventilation at cessation of VHV in the isoflurane studies, are related to the inability to activate STP of breathing via an effect of isoflurane on respiratory neurones in the brain stem [24].
• To do this, we determined in chloralose-anesthetized, open-chest dogs, changes in sinus cycle length (SCL), atrioventricular nodal conduction time (AH interval), and effective refractory periods (ERP) of the right atrium (RA) and left ventricle (LV) during hypoxia induced by either hypoventilation or by breathing 10% oxygen in nitrogen [25].

Gene context of Hypoventilation

• Genetic mutations affecting signaling by glial cell line-derived neurotrophic factor (GDNF) perturb development of breathing in mice and are associated with congenital central hypoventilation syndrome in humans [26].
• Pbx3 deficiency results in central hypoventilation [27].
• Congenital central hypoventilation syndrome: a novel mutation of the RET gene in an isolated case [28].
• Three cases of congenital central hypoventilation syndrome (CCHS) associated with Hirschsprung's disease (HSCR) were examined with respect to their genomic DNA on the coding region of the receptor tyrosine kinase (RET) and the endothelin-B receptor (EDNRB) [29].
• Congenital hypoventilation and impaired hypoxic response in Nurr1 mutant mice [30].

Analytical, diagnostic and therapeutic context of Hypoventilation

• The alveolar hypoventilation that occurred during insufflation with vibration indicates impaired CO2 elimination and suggests increased resistance to CO2 transport [31].
• The elimination of CO2 across the dialyzer has been reported as the cause of pulmonary hypoventilation during hemodialysis [32].
• Ventilatory response to CO2 re-breathing before and after nocturnal nasal intermittent positive pressure ventilation in patients with chronic alveolar hypoventilation [33].
• A prostacyclin-like substance was detected by bioassay in the blood of dogs and cats during hypoventilation and increased end-expiratory pressure [34].
• He was given high doses of parenteral steroids and neuromuscular blockade with non-depolarizing agents in order to achieve controlled hypoventilation with an ensuing hypercapnoea [35].

References