Showing papers on "Hypoventilation published in 2005"

Paraneoplastic encephalitis, psychiatric symptoms, and hypoventilation in ovarian teratoma

Abstract: We report four young women who developed acute psychiatric symptoms, seizures, memory deficits, decreased level of consciousness, and central hypoventilation associated with ovarian teratoma (OT) and cerebrospinal fluid (CSF) inflammatory abnormalities. Three patients recovered with treatment of the tumor or immunosuppression and one died of the disorder. Five other OT patients with a similar syndrome and response to treatment have been reported. Our patients' serum or CSF showed immunolabeling of antigens that were expressed at the cytoplasmic membrane of hippocampal neurons and processes and readily accessed by antibodies in live neurons. Immunoprobing of a hippocampal-expression library resulted in the isolation of EFA6A, a protein that interacts with a member of the two-pore-domain potassium channel family and is involved in the regulation of the dendritic development of hippocampal neurons. EFA6A-purified antibodies reproduced the hippocampal immunolabeling of all patients' antibodies and colocalized with them at the plasma membrane. These findings indicate that in a young woman with acute psychiatric symptoms, seizures, and central hypoventilation, a paraneoplastic immune-mediated syndrome should be considered. Recognition of this disorder is important because despite the severity of the symptoms, patients usually recover. The location and function of the isolated antigen suggest that the disorder is directly mediated by antibodies.

Randomised controlled trial of non-invasive ventilation (NIV) for nocturnal hypoventilation in neuromuscular and chest wall disease patients with daytime normocapnia

Abstract: Background: Long term non-invasive ventilation (NIV) reduces morbidity and mortality in patients with neuromuscular and chest wall disease with hypercapnic ventilatory failure, but preventive use has not produced benefit in normocapnic patients with Duchenne muscular dystrophy. Individuals with nocturnal hypercapnia but daytime normocapnia were randomised to a control group or nocturnal NIV to examine whether nocturnal hypoventilation is a valid indication for NIV. Methods: Forty eight patients with congenital neuromuscular or chest wall disease aged 7–51 years and vital capacity <50% predicted underwent overnight respiratory monitoring. Twenty six with daytime normocapnia and nocturnal hypercapnia were randomised to either nocturnal NIV or to a control group without ventilatory support. NIV was started in the control group if patients fulfilled preset safety criteria. Results: Peak nocturnal transcutaneous carbon dioxide tension (TcCO2) did not differ between the groups, but the mean (SD) percentage of the night during which TcCO2 was >6.5 kPa decreased in the NIV group (–57.7 (26.1)%) but not in controls (–11.75 (46.1)%; p = 0.049, 95% CI –91.5 to –0.35). Mean (SD) arterial oxygen saturation increased in the NIV group (+2.97 (2.57)%) but not in controls (–1.12 (2.02)%; p = 0.024, 95% CI 0.69 to 7.5). Nine of the 10 controls failed non-intervention by fulfilling criteria to initiate NIV after a mean (SD) of 8.3 (7.3) months. Conclusion: Patients with neuromuscular disease with nocturnal hypoventilation are likely to deteriorate with the development of daytime hypercapnia and/or progressive symptoms within 2 years and may benefit from the introduction of nocturnal NIV before daytime hypercapnia ensues.

Sleep‐related breathing disorder in Duchenne muscular dystrophy: Disease spectrum in the paediatric population

Abstract: Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disease with death usually occurring because of respiratory failure. Signs of early respiratory insufficiency are usually first detectable in sleep. Objective: To study the presentation of sleep-related breathing disorder (SRBD) in patients with DMD. Method:> A retrospective review of patients with DMD attending a tertiary paediatric sleep disorder clinic over a 5-year period. Symptoms, lung function and polysomnographic indices were reviewed. Results: A total of 34 patients with DMD were referred for respiratory assessment (1-15 years). Twenty-two (64%) reported sleep-related symptomatology. Forced vital capacity (FVC) was between 12 and 107% predicted (n = 29). Thirty-two progressed to have polysomnography of which 15 were normal studies (median age: 10 years) and 10 (31%) were diagnostic of obstructive sleep apnoea (OSA) (median age: 8 years). A total of 11 patients (32%) showed hypoventilation (median age: 13 years) during the 5-year period and non-invasive ventilation (NIV) was offered to them. The median FVC of this group was 27% predicted. There was a significant improvement in the apnoea/hypopnoea index (AHI) (mean difference = 11.31, 95% CI = 5.91-16.70, P = 0.001) following the institution of NIV. Conclusions: The prevalence of SRBD in DMD is significant. There is a bimodal presentation of SRBD, with OSA found in the first decade and hypoventilation more commonly seen at the beginning of the second decade. Polysomnography is recommended in children with symptoms of OSA, or at the stage of becoming wheelchair-bound. In patients with the early stages of respiratory failure, assessment with polysomnography-identified sleep hypoventilation and assisted in initiating NIV.

Opioid-induced respiratory depression is associated with increased tidal volume variability

Abstract: SummaryBackground and objective: μ-agonistic opioids cause concentration-dependent hypoventilation and increased irregularity of breathing The aim was to quantify opioid-induced irregularity of breathing and to investigate its time-course during and after an opioid infusion, and its ability to predict the severity of respiratory depressionMethods: Twenty-three patients breathing spontaneously via a continuous positive airway pressure (CPAP) mask received an intravenous (iv) infusion of alfentanil (23 μg kg−1 min−1, 14 patients) or pirinitramide (piritramide) (179 μg kg−1 min−1, nine patients) until either a cumulative dose of 70 μg kg−1 for alfentanil or 500 μg kg−1 for pirinitramide had been achieved or the infusion had to be stopped for safety reasons Tidal volumes (VT) and minute ventilation were measured with an anaesthesia workstation For every 20 breaths, the quartile coefficient was calculated (Qeff20VT)Results: Both the decrease of minute volume and the increase of Qeff20VT during and after opioid infusion were highly significant (P < 0001, ANOVA) Patients in which the alfentanil infusion had to be terminated prematurely had lower minute volumes (P = 0002, t-test) and higher Qeff20VT (P = 0034, t-test) than those who received the complete dose Changes in the regularity of breathing measured as Qeff20VT parallel those of minute ventilation during and after opioid infusionConclusions: Opioids cause a more complicated disturbance of the control of respiration than a mere resetting to higher PCO2 Furthermore, Qeff20VT appears to predict the severity of opioid-induced respiratory depression

Sleep-disordered breathing in newborn mice heterozygous for the transcription factor Phox2b.

Abstract: Rationale: Central congenital hypoventilation syndrome (CCHS) is a rare autosomal dominant syndrome present from birth, and characterized by depressed ventilation during sleep. Heterozygous mutations of the homeobox gene Phox2b were recently found in a very high proportion of patients. Objectives: To determine whether newborn mice with heterozygous targeted deletion of the transcription factor Phox2b would display sleep-disordered breathing. Methods: We measured breathing pattern using whole-body plethysmography in wild-type and mutant 5-day-old mice, and we classified sleep–wake states using nuchal EMG and behavioral scores. Results: We found that sleep apnea total time was approximately six times longer (8.9 ± 12 vs. 1.5 ± 2.2 seconds, p < 0.0015), and ventilation during active sleep was 21% lower (18.4 ± 5.1 vs. 23.3 ± 5.5 ml/g/second, p < 0.006) in mutant than in wild-type pups. During wakefulness, apnea time and ventilation were not significantly different between mutant and wild-type pups. Mutant an...

Paroxysmal Apnea and Vasomotor Instability Following Medullary Infarction

Abstract: Background Central hypoventilation and paroxysmal hypertension are uncommon complications of medullary infarction. To our knowledge, the combination of these autonomic complications of medullary stroke has not previously been reported. Objective To describe a patient who experienced life-threatening paroxysmal attacks of central apnea and vasomotor instability 3 months after medullary infarction, a combination of symptoms that is unusual. Patient, Methods, and Results Following a right lateral medullary infarction, an otherwise stable 70-year-old woman developed recurrent episodes of apnea (PCO2, >100 mm Hg), blood pressure instability (systolic blood pressure, >200 to Conclusions A syndrome of life-threatening central hypoventilation and vasomotor instability can occur after medullary infarction. Placement of a phrenic nerve pacemaker can prevent these complications, without the functional limitations imposed by continuous mechanical ventilation.

Disordered respiratory control in children with partial cerebellar resections.

Abstract: While the cerebellum is not traditionally thought of as having an important role in respiratory control, breathing involves cyclic motor acts that require cerebellar coordination. We postulate that children with partial cerebellar resections have disordered respiratory control due to altered synchronization of ventilatory muscles. We reviewed the records of 36 children following partial cerebellar resections due to neoplasms confined to the cerebellum. P values were elevated in 19% of patients. Six patients had apneic or bradypneic events documented within the first month after resection. Two patients required intubation with assisted ventilation, and one needed assisted ventilation for 7.3 weeks. Those with apnea had lower oxygen saturations, and a longer need for supplemental oxygen. Patients with apnea were older than those without apnea. Swallowing, which uses many of the same muscles as those needed to maintain upper airway patency, was dysfunctional in 50% of those with apneas. We conclude that children with cerebellar resections have an increased incidence of apnea, hypoventilation, and hypoxemia not otherwise explained by pulmonary disease, and some require prolonged assisted ventilation. We speculate that these abnormalities are manifestations of altered respiratory control caused by dysfunctional cerebellar coordination of ventilatory muscles. © 2005 Wiley-Liss, Inc.

Sleep in COPD Patients

Abstract: An estimated 14 million Americans are afflicted with COPD and are at risk for significant abnormalities in gas exchange and ventilation that are exacerbated by sleep. In addition 10–15% of COPD patients concomitantly suffer from sleep apnea. The term “Overlap Syndrome” was originally coined by Flenley to describe the relationship between COPD and sleep apnea. Patients with overlap syndrome are characterized by having lower PaO2 during wakefulness, higher PaCO2, elevated pulmonary artery pressure and more significant episodes of nocturnal hypoxemia than sleep apnea patients without COPD. COPD and sleep apnea have long been individually recognized for having significantly detrimental affects on the respiratory physiology of patients. The mechanisms of both diseases compromise the gas exchange, oxygenation, and overall mortality and morbidity in the affected patients. While both of these diseases individually represent significant detriment to affected patients, the combination of these two diseases has been...

Late onset hypoventilation syndrome: is there a spectrum of idiopathic hypoventilation syndromes?

Abstract: We report a case of late onset central hypoventilation syndrome (LO-CHS) with hypothalamic dysfunction (HD) and ganglioneuroma presenting at the age of ten years. LOCHS-HD is now a well-established syndrome; the key is to investigate each child's history and presentation to expeditiously offer the most accurate diagnosis and optimal management.

[Perry and Purdy's syndrome (familial and fatal parkinsonism with hypoventilation and athymhormia)].

Abstract: The authors describe three new cases of this familial form of Parkinson's disease, together with its clinical and histological particularities and pathophysiological basis.

Ventilatory management and weaning in a patient with central hypoventilation caused by a brainstem cavernoma.

Abstract: We describe a patient with a brainstem cavernoma who was dependent on hypoxic respiratory drive initially. After excision of the lesion, the patient developed severe hypoventilation unresponsive to both hypoxia and hypercapnia. Weaning from mechanical ventilation could be achieved through central respiratory stimulation by acetazolamide. Problems associated with respiratory management of central hypoventilation due to a brainstem lesion are described.

102 Ventilatory response to hyperoxia in newborn mice heterozygous for the transcription factor Phox2b

Abstract: Introduction The transcription factor Phox2b is a master regulator of the noradrenergic phenotype and of dl neuronal relays of the autonomic medullary reflex pathways including peripheral chemoreceptors and their afferent viscerai pathways. Heterozygous mutations of Phox2b have been found in a high proportion of patients with Central Congenitd Hypoventilation Syndrome (CCHS), a rare autosomal dominant syndrome characterized by hypoventilation during sleep, and impaired ventilatory responses to hypercapnia and hypoxia. We previously showed that Phox2b+/- mutant mice showed a blunted response to CO2 [l], and a large increase in sleep apnea total time [2]. However, the hyperpneic response to hypoxia was normd [l]. The aim of this study was to examine chemosensitivity to 0 2 in Phox2B+/- pups using an hyperoxic test. Methods 136 wild-type and mutant two-day old pups were exposed to two hyperoxic tests (12 min air followed by 3 min 02), followed by 12 min air. Breathing variables and apneas were measured noninvasively using whole body flow plethysmography. We evaluated the ventilatory response to hyperoxia based on the maximal VE decline, i.e., the minima VE value (min VE) over the 3 min of O2 exposure expressed as the percentage of the baseline level. Results . Conclusion Sensitivity to O 2 was not impaired in Phox2B+/- newborn pups, in line with previous results showing their normal hyperpneic response to hypoxia, and in contrast with CCHS. However, hyperoxia caused a sustained ventilatory depression in mutant pups, suggesting that disruption of Phox2B impaired activatory processes of breathing. This latter effect may contibute to sleep-related respiratory disorders in CCHS.

Ventilator strategy for status asthmaticus in pregnancy: a case-based review.

Abstract: Asthma is a common and potentially serious condition complicating pregnancy. However, the literature available on the management of severe asthma in pregnancy is limited. We describe two episodes of respiratory failure due to asthma in pregnant women and discuss their management in the context of a review of the literature. In both patients, adequate oxygenation was maintained by using controlled hypoventilation with a permissive hypercapnia strategy. Both patients received aggressive steroid therapy, aerosolized bronchodilators, sedation, and paralysis. Aggressive asthma treatment as in a nongravid female is recommended.

A novel 17 bp deletion in the PHOX2B gene causes congenital central hypoventilation syndrome with total aganglionosis of the small and large intestine.

Abstract: Congenital central hypoventilation syndrome (CCHS; ‘‘Ondine Curse’’, MIM 209880) is a rare syndrome of dysfunction of the autonomic nervous system characterized by failure of the breathing control. The current understanding is that chemoreceptor signals are not properly generated or transmitted to the respiratory centers. Neonatal presentations with respiratory failure are most common. CCHS is regarded as a neurocristopathy, resulting from abnormal development of the neural crest. In CCHS, abnormal migration of neurons into the gastrointestinal system [Haddad et al., 1978] resulting in segmental aganglionosis of the colon (Hirschsprung’s disease) may be found. In-frame expansions of a polyalanine-repeat within exon 3 of the PHOX2B gene encoding a homeodomain transcription factor (5–13 alanine codons in addition to the normal repeat of 20 alanines) are responsible for the vast majority of cases [Amiel et al., 2003; Weese-Mayer et al., 2003]. To date, only few CCHS patients affected by PHOX2B mutations other than these in-frame expansions have been identified. Interestingly, all in whom a null allele was suspected showed aganglionosis of a colonic segment [Amiel et al., 2003; Sasaki et al., 2003; Weese-Mayer et al., 2003; Matera et al., 2004]. Here we report a new case of CCHS with total aganglionosis of the entire small and large intestine and its genetic basis. In a male newborn of non-consanguinous caucasian parents with insufficient spontaneous respiration requiring mechanical ventilation immediately after birth CCHS was diagnosed based on an inadequate ventilatory response to hypercarbia. Other symptoms included unreactive pupils, sudden blood pressure changes, sudden paleness, and seizures. Investigations for lung, cardiac, metabolic, or neuromuscular diseases were normal. Oral feeds were not tolerated. Multiple step biopsies of the gastrointestinal tract (11 transmural biospies from stomach to rectum) showed complete aganglionosis of the submucosa and intramural plexus in all except the gastric sample. Ectopic acetylcholine esterase positive nerve fibers in the lamina propria, typical of classical Hirschsprung disease, were not found. A lower ileostomy enabled partial enteral nutrition, however, dilatation of the entire intestine was observed over time. Home ventilation for 24 hr daily and home parenteral nutrition were initiated. At 15 months of age the patient died from sepsis. We amplified and sequenced the complete coding region from genomic DNA of the index patient as described [Weese-Mayer et al., 2003]. The patient’s parents were analyzed for the polyalanine repeat only. In the index patient an additional allele lacking 17 bp compared to the normal allele was identified. DNA sequencing demonstrated a heterozygous 17 bp deletion within exon 3 from bp 722–738 of the coding region (Fig. 1). As a consequence of this frameshift mutation a polyalanine repeat is not formed from the affected allele. The patient’s parents both had normal alleles. Heterozygous PHOX2B in-frame expansions are the predominant cause of CCHS. Weese-Mayer et al. [2003] found a genotype–phenotype correlation in the sense that the longer the expansion the more severe the phenotype. This may imply residual function of the affected expanded alleles. Functional analyses of PHOX2B proteins mutated in CCHS, however, are

Biphasic Intermittent Positive Airway Pressure (BIPAP) Ventilation Support In The Postoperative Period For Patients With Myotonic Dystrophy

Abstract: Patients with myotonic dystrophy (MD), a neuromuscular disorder, are significantly affected by general anesthesia. The most common post-operative complications seen in MD patients are respiratory complications; thus they are often in need of temporary post-operative ventilatory support. We present a case of a 65-year-old female who developed CO2 narcosis due to hypoventilation, after undergoing breast lumpectomy under general anesthesia. The ventilatory complication was treated with BIPAP using a full face mask. The patient recovered within 24 hours. This case proposes the option of the non-invasive method of BIPAP for MD patients with hypoventilation after general anesthesia.

Effects of xenon anaesthesia on the circulatory response to hypoventilation.

Abstract: Background.Circulatoryresponsetohypoventilation isaimedateliminating carbondioxideand maintaining oxygen delivery (DO2) by increasing cardiac output (CO). The hypothesis that this increase is more pronounced with xenon than with isoflurane anaesthesia was tested in pigs. Methods.Twentypigsreceivedanaesthesiawithxenon0.55MAC/remifentanil0.5 mgkg � 1 min � 1 (groupX,n=10)orisoflurane0.55MAC/remifentanil0.5 mgkg � 1 min � 1 (groupI,n=10).CO,heart rate (HR), mean arterial pressure (MAP) and left ventricular fractional area change (FAC) were measured at baseline, after 5 and 15 min of hypoventilation and after 5, 15 and 30 min of restored ventilation. Results. CO increased by 10‐20% with both anaesthetics, with an equivalent rise in HR, maintaining DO2 in spite of a 20% reduction in arterial oxygen content. Decreased left ventricular (LV) afterload during hypoventilation increased FAC, and this was more marked with xenon (0.60‐ 0.66, P<0.05 compared with baseline and isoflurane). This difference is attributed to negative inotropic effects of isoflurane. Increased pulmonary vascular resistance during hypoventilation was found with both anaesthetics. Conclusion. The cardiovascular effects observed in this model of moderate hypoventilation were sufficient to maintain DO2. Although the haemodynamic response appeared more pronounced with xenon, differences were not clinically relevant. An increase in FAC with xenon is attributed to its lack of negative inotropic effects. Br J Anaesth 2005; 95: 166‐71

Interventions during donor care before lung transplantation

Abstract: Improvement in the ratio of Pao2 to the fraction of inspired oxygen and treatment of pulmonary infections in donors have been cited as important goals for improving lungs before implantation and restoring marginal lungs to the donor pool. Likewise, improving donor Pao2 is often critical for other organs during donor care. The common physiological mechanisms responsible for hypoxemia are ventilation/perfusion mismatching, abnormal oxygen diffusion, and hypoventilation. These mechanisms are discussed and treatment options are considered.

Breathing disorder detection and therapy device for providing intrinsic breathing

Abstract: A device and method are provided for managing the treatment of a patient with respiratory disorders or symptoms. Respiratory parameters are sensed and recorded and communicated to an external device to provide information to a patient and/or provider for further treatment or diagnosis. Also respiratory disorders such as apnea or hypoventilation may be treated by electrically stimulating the diaphragm muscle or phrenic nerve in response to a sensed respiratory parameter or characteristic.

Late-onset hypoventilation without PHOX2B mutation or hypothalamic abnormalities.

Abstract: Most children with idiopathic central hypoventilation have symptoms at birth or shortly thereafter and have mutations of the PHOX2B gene. Those whose symptoms appear later usually have obesity and hypothalamic abnormalities. We describe a case of a boy who presented at 5 years of age with severe idiopathic central hypoventilation, but no obesity or hypothalamic abnormalities, and who tested negative for mutation of the PHOX2B gene. This case illustrates the heterogeneity of childhood idiopathic central hypoventilation syndromes and indicates the multifactorial etiology of these syndromes.

Primary alveolar hypoventilation syndrome complicated with antiphospholipid syndrome.

Abstract: A 32-year-old woman was transported to our hospital by ambulance because of loss of consciousness and breathing induced by drug intoxication. After general status was recovered, her arterial blood gas analysis under breathing room air revealed hypercapnia and hypoxemia which were caused by hypoventilation. After exclusion of apparent pulmonary, neuromuscular and central nerve diseases, she was diagnosed with primary alveolar hypoventilation syndrome. She had the complication of antiphospholipid syndrome (APS), suggesting the possibility of small lesions of the brainstem due to APS, which were too small to be detected on CT or MRI; these small lesions could cause injuries to the respiratory center.

Patient compliance management device and method

Abstract: A device and method are provided for managing the treatment of a patient With respiratory disorders or symptoms. Respiratory parameters are sensed and recorded and communicated to an external device to provide information to a patient and/or provider for further treatment or diagnosis. Also respiratory disorders such as apnea or hypoventilation may be treated by electrically stimulating the diaphragm muscle or phrenic nerve in response to a sensed respiratory parameter or characteristic.

Pediatric obstructive sleep apnea syndrome and anesthetic management.

Abstract: Sleep-related breathing disorders require special attention in children who spend a considerable time sleeping. Obstructive sleep apnea syndrome is characterized by episodes of upper airway obstruction during sleep. Symptoms include hyperactivity, enuresis, headache, failure to thrive, and increased respiratory effort and total sleep time. The most common cause is adenotonsillar hypertrophy. Coexisting diseases are obesity, neuromuscular and craniofacial anomalies, and Down's syndrome. Early diagnosis is important to minimize neurocognitive, cardiac and developmental complications. Polysomnography is the gold standard for diagnosis. Although the features of pediatric obstructive sleep apnea syndrome are distinctly different from that in adults, it may predispose to the adult type of the syndrome. As therapy concerns several surgical approaches as well as conservative techniques, anesthetic management calls for particular attention. Pre- and postoperative sedation must be performed cautiously and patients must be watched closely with respect to airway obstruction and hypoventilation. Difficult intubation must always be considered.