Literature search from ms 29/4/2010

Fujisawa, H., Y. Yoshida, et al. (2005). "Cyanotic breath-holding spell: a life-threatening complication after radical resection of a cervicomedullary ganglioglioma." PEDIATRIC NEUROSURGERY 41(2): 93-7.

Cyanotic breath-holding spell is a benign and self-limiting disease of young children but occasionally associated with sudden, unexpected death. The authors report a rare case in a 2-year-old girl with a severe form that started after radical resection of a cervicomedullary ganglioglioma. She was admitted to our hospital because of delayed and unstable gait. Since magnetic resonance imaging showed a cervicomedullary tumor, she underwent a radical resection and histology showed the tumor to be a ganglioglioma. Postoperatively, the function of the lower cranial nerves and cerebellum deteriorated and hemiparesis on the left became apparent, but she returned to the preoperative state in a few months. In addition, mild sleep apnea (Ondine curse) and severe cyanotic breath-holding spells occurred. The former responded to medication but the latter failed and continued several times per day with a rapid onset and progression of hypoxemia, loss of consciousness, sweating and opisthotonos. Five months after the operation, the patient returned home with a portable oxygen saturation monitor equipped with an alarm. This case indicates that cyanotic breath-holding spell, as well as sleep apnea, is critical during the early postoperative period. This is the first report observing that such spells may occur as a complication of radical resection of a cervicomedullary tumor. Copyright (c) 2005 S. Karger AG, Basel.
Furukawa, T. (2002). "Ondine's curse. [Japanese]." Brain and Nerve 54(5): 385-388.

Gadalla, T. and N. Piran (2007). "Eating disorders and substance abuse in Canadian men and women: a national study." Brunner-Mazel Eating Disorders Monograph Series 15(3): 189-203.

The objective of this study was to examine the co-morbidity between eating disorders and substance use in a large nationally representative sample of Canadian women and men while including varied measures of substance consumption and a wide range of substance classes. The research was based on secondary analyses of data collected, using multistage stratified probability sampling, by Statistics Canada in the Mental Health and Well-being cycle 1.2 of the Canadian Community Health Survey (CCHS). Data were collected mostly in face to face interviews using the Computer Assisted Personal Interviewing method. Data included the Eating Attitude Test (EAT-26), and modules of the short form of the Composite International Diagnostic Interview (CIDI-SF) to assess alcohol and drug use, dependence and interference. Alcohol interference and amphetamine use were associated with the risk for an eating disorder in both women and men. In the women sample only, risk for an eating disorder was associated with illicit drug use, dependence and interference, as well as with the number of substance classes used. The study findings support the importance of developing assessment instruments and treatment strategies that address the co-occurrence of eating disorders and substance use for both women and men.
Gaisie, G. (1989). "Hirschsprungs disease, Ondine's curse, and neuroblastoma--manifestations of neurocristopathy." PEDIATRIC RADIOLOGY 20(1-2): 136.

Galinkin, J. L. and D. Kurth (1998). "Neonatal and pediatric apnea syndromes." Problems in Anesthesia 10(4): 444-454.

This chapter reviews neonatal and childhood apnea syndromes, including apnea of prematurity, apnea of infancy, postoperative apnea, obstructive sleep apnea, and central alveolar hypoventilation syndrome (Ondine's curse). Anesthetic implications of these disease processes are discussed.
Gallego, J. and S. Dauger (2008). "PHOX2B mutations and ventilatory control." Respiratory Physiology & Neurobiology 164(1-2): 49-54.

The transcription factor PHOX2B is essential for the development of the autonomic nervous system. In humans, polyalanine expansion mutations in PHOX2B cause Congenital Central Hypoventilation Syndrome (CCHS), a rare life-threatening disorder characterized by hypoventilation during sleep and impaired chemosensitivity. CCHS is combined with comparatively less severe impairments of autonomic functions including thermoregulation, cardiac rhythm, and digestive motility. Respiratory phenotype analyses of mice carrying an invalidated Phox2b allele (Phox2b+/- mutant mice) or the Phox2b mutation (+7 alanine expansion) found in patients with CCHS (Phox2b(27Ala/+) mice) have shed light on the role for PHOX2B in breathing control and on the pathophysiological mechanisms underlying CCHS. Newborn mice that lacked one Phox2b allele (Phox2b+/-) had sleep apneas and depressed sensitivity to hypercapnia. However, these impairments resolved rapidly, whereas the CCHS phenotype is irreversible. Heterozygous Phox2b(27Ala/+) pups exhibited a lack of responsiveness to hypercapnia and unstable breathing; they died within the first few postnatal hours. The generation of mouse models of CCHS provides tools for evaluating treatments aimed at alleviating both the respiratory symptoms and all other autonomic symptoms of CCHS. [References: 72]

Gallego, J. and C. Gaultier (2000). "[Respiratory behavior]." REVUE DES MALADIES RESPIRATOIRES 17(1): 41-9.

The notion of respiratory behaviour is grounded, among other approaches, on studies of neuronal mechanisms of voluntary breathing, clinical data, conditioning experiments and respiratory sensations. The interactions between cortical centres of voluntary breathing and respiratory neurones in the brain stem are poorly understood: voluntary control operates through the direct action of corticomotor centres on respiratory motoneurones; however these cortical structures may directly act on bulbopontine centres, and therefore indirectly on respiratory motoneurones. Recordings in animals of brain stem neuronal activity, brain imaging in humans, and transcortical stimulation of the diaphragm in humans and in animal models support either one or the other hypothesis. The mutual independence of the automatic and the voluntary controls of breathing appears in patients with impaired bulbopontine automatism and operational voluntary control (Central Congenital Hypoventilation Syndrome), and in patients with the reverse impairment (locked-in syndrome). Finally, recent studies in humans and animals show that classical conditioning affects respiratory control and sensations. [References: 49]

Gallina, S., S. Restivo, et al. (2000). "[Otoneurological findings in a case of congenital central hypoventilation syndrome (Ondine's curse)]." ACTA OTORHINOLARYNGOLOGICA ITALICA 20(2): 121-4.

The authors report a case of congenital central hypoventilation syndrome (CCHS) studied from the otoneurological point of view. Emphasis is placed on the numerous alterations in the electronystagmograph and auditory potentials. The results obtained confirm the hypothesis that such patients are subject to CNS alterations, suggesting that the disease pathogenesis derives from an alteration in the mechanism of central chemoreceptor stimuli integration.

Garcia Puga, J. M., J. Hortal Carmona, et al. (2009). "Congenital central hypoventilation syndrome and continuity in Primary Health Care. [Spanish]." Acta Pediatrica Espanola 67(8): 396-400.

The scientific advances and socio-economic improvements have had an impact on technical and therapeutic advances, changing the chart of the paediatrician's and pediatrics performance. Diseases that used to be lethal before have changed their evolution at present with an increase in the children's survival, leaving them in chronic situations. Thus, diseases that previously only had a hospital boarding can now be treated in Primary Health Care, which would require material resources and professionals willing to undertake this task, beside an involved family, able to deal with the necessary cares. We present a congenital central hypoventilation syndrome, a disease probably under diagnosed and characterized by hypoventilation during sleep, in a 19-months girl who needs assisted ventilation during sleep through tracheotomy, with continuous debit enteral nutrition by gastrostomy, and considering the possibility of moving her to a house close to the hospital, discharge is set out. An action plan and coordination between Hospital Health Center, parents, Health District, Hospital Management and Emergencies is drawn up. The steps to be taken are protocolized at the Primary Health Care, in which the rest of the professionals of the Health Centre is involved in her assistance and with the express management by the appointed pediatrician, nurse and social worker. The experience carried out after 9 months of follow-up is informed.

Garcia-Barcelo, M., M. H. Sham, et al. (2003). "Association study of PHOX2B as a candidate gene for Hirschsprung's disease." GUT 52(4): 563-7.

BACKGROUND: Hirschsprung's disease (HSCR) is a congenital disorder characterised by an absence of ganglion cells in the nerve plexuses of the lower digestive tract. Manifestation of the disease has been linked to mutations in genes that encode the crucial signals for the development of the enteric nervous system-the RET and EDNRB signalling pathways. The Phox2b gene is involved in neurogenesis and regulates Ret expression in mice, in which disruption of the Phox2b results in a HSCR-like phenotype. AIMS: To investigate the contribution of PHOX2B to the HSCR phenotype. METHODS: Using polymerase chain reaction amplification and direct sequencing, we screened PHOX2B coding regions and intron/exon boundaries for mutations and polymorphisms in 91 patients with HSCR and 71 ethnically matched controls. Seventy five HSCR patients with no RET mutations were independently considered. Haplotype and genotype frequencies were compared using the standard case control statistic. RESULTS: Sequence analysis revealed three new polymorphisms: two novel single nucleotide polymorphisms (A-->G(1364); A-->C(2607)) and a 15 base pair deletion (DEL(2609)). Statistically significant differences were found for A-->G(1364). Genotypes comprising allele G were underrepresented in patients (19% v 36%; chi(2)=9.30; p=0.0095 and 22% v 36%; chi(2)=7.38; p=0.024 for patients with no RET mutations). Pairwise linkage disequilibrium (LD) analysis revealed no LD between physically close polymorphisms indicating a hot spot for recombination in exon 3. CONCLUSION: The PHOX2B A-->G(1364) polymorphism is associated with HSCR. Whether it directly contributes to disease susceptibility or represents a marker for a locus in LD with PHOX2B needs further investigation. Our findings are in accordance with the involvement of PHOX2B in the signalling pathways governing the development of enteric neurones.

Gariepy, G., M. Rossignol, et al. (2009). "Characteristics of subjects self-reporting arthritis in a population health survey: distinguishing between types of arthritis." Canadian Journal of Public Health Revue Canadienne de Sante Publique. 100(6): 467-71.

OBJECTIVES: Arthritis is a broad term covering disparate diseases with varying prognoses. Epidemiological surveys are important tools for arthritis research, but they either fail to specify arthritis subtypes or they provide self-reported arthritis data that are potentially misclassified. This limits their use for research about arthritis subgroups. This study describes and compares characteristics of subjects self-reporting subtypes of arthritis in a Canadian epidemiological survey. We also consider the feasibility of developing methods for distinguishing subtypes of arthritis in such population surveys. METHODS: Using data from 119,904 adult participants in the Canadian Community Health Survey (CCHS) cycle 3.1, we identified those self-reporting one of four subtypes of arthritis and compared the four groups with regard to socio-demographic status, lifestyle and health characteristics, medication use, health care utilization and functional outcomes. Cross-tabulations of weighted prevalence were estimated and tested for statistical significance using the chi-square test. RESULTS: Descriptive results showed very few distinguishing characteristics across self-reported arthritis subtypes on 34 investigated variables. Participants with osteoarthritis were more likely to be older and female than other groups. Statistical testing showed no difference between rheumatoid arthritis, osteoarthritis and "other" type of arthritis for physical activity level, health conditions, medication use, health care utilization and functional limitations. DISCUSSION: Characteristics of subjects who self-report different types of arthritis in a typical population health survey (CCHS) are not sufficiently dissimilar to justify valid data analyses and interpretation by arthritis subgroup. Future studies might focus on identifying and implementing supplemental questionnaire items in epidemiological population surveys.

Garriguet, D. (2006). "Medication use among pregnant women." HEALTH REPORTS 17(2): 9-18.

OBJECTIVES: This study examines medication use among women aged 15 to 49, comparing pregnant women with their nonpregnant contemporaries. A portrait of women who used medication during pregnancy is also presented. DATA SOURCES: Analysis is based on data from the 1994/95 through 2002/03 National Longitudinal Survey of Children and Youth (NLSCY), as well as the 2003 Canadian Community Health Survey (CCHS) and the 1996/97 National Population Health Survey (NPHS). ANALYTICAL TECHNIQUES: Estimates of medication use are based on cross-sectional data. Logistic regression was used to determine factors associated with use of medication. MAIN RESULTS: Medication use among women aged 15 to 49 has risen over the last 10 years. Although the proportion of pregnant women who used medications increased, it remained below the figure for other women the same ages. Over one-quarter of women (27%) were taking prescription medications while pregnant.

Garriguet, D. (2007). "Canadians' eating habits." HEALTH REPORTS 18(2): 17-32.

OBJECTIVES: This report is an overview of Canadians' eating habits: total calories consumed and the number of servings from the various food groups, as well as the percentage of total calories from fat, protein and carbohydrates. DATA SOURCES: The data are from the 2004 Canadian Community Health Survey (CCHS) - Nutrition. Published results from the 1970-1972 Nutrition Canada Survey were used for comparisons over time. ANALYTICAL TECHNIQUES: An initial 24-hour dietary recall was completed by 35,107 people. Asubsample of 10,786 completed a second recall 3 to 10 days later. Data collected in the first interview day were used to estimate, by selected characteristics, average calorie intake and average percentages of calories from fat, protein and carbohydrates. Usual intake of macronutrients was estimated with the Software for Intake Distribution Estimation (SIDE) program, using data from both interview days. MAIN RESULTS: Although a minimum of five daily servings of vegetables and fruit is recommended, 7 out of 10 children aged 4 to 8 and half of adults did not meet this minimum in 2004. More than a third of 4- to 9-year-olds did not have the recommended two daily servings of milk products. Over a quarter of Canadians aged 31 to 50 obtained more than 35% of their total calories from fat. Snacks account for more calories than breakfast, and about the same number of calories as lunch.

Garriguet, D. (2008). "Impact of identifying plausible respondents on the under-reporting of energy intake in the Canadian Community Health Survey." HEALTH REPORTS 19(4): 47-55.

BACKGROUND: Under-reporting is common in nutrition surveys. The identification of plausible respondents is a way of measuring the impact of under-reporting on the relationship between energy intake and body mass index (BMI). DATA AND METHODS: A 24-hour dietary recall from 16,190 respondents aged 12 or older to the Canadian Community Health Survey (CCHS)--Nutrition was used to determine energy and nutrient intake. To identify plausible respondents, a confidence interval was applied to total energy expenditure derived from equations developed by the Institute of Medicine. Estimates of energy and nutrient intake for plausible respondents were compared with estimates for all respondents. Linear regression was used to demonstrate the impact of under-reporting on the relationship between reported energy intake and weight. Logistic regression was used to determine the impact of under-reporting on modelling the characteristics of obese people. RESULTS: With a confidence interval of 70% to 142% around energy expenditure, 57% of CCHS respondents were identified as "plausible respondents". Nutrient under-reporting varied between 1% and 10%. Analysis based only on plausible respondents re-establishes the theoretical relationship between energy intake and body weight, a relationship that is lost when analysis is based on the full sample. INTERPRETATION: Identifying plausible respondents is an effective way of measuring the impact of under-reporting food intake. Conclusions based on plausible respondents, rather than on all respondents, are more in line with theoretical expectations, such as a positive association between high energy intake and obesity.

Garriguet, D. (2008). "Under-reporting of energy intake in the Canadian Community Health Survey." HEALTH REPORTS 19(4): 37-45.

BACKGROUND: Under-reporting of food consumption is a recurrent challenge for nutrition surveys. Past research suggests that under-reporting tends to be most pronounced among overweight and obese people. DATA AND METHODS: Data from 16,190 respondents to the 2004 Canadian Community Health Survey (CCHS 2.2)-Nutrition were used to estimate underreporting of food intake for the population aged 12 or older in the 10 provinces. Multiple linear regression models were used to assess the impact of different characteristics on underreporting. RESULTS: Average under-reporting of energy intake was estimated at 10%. Under-reporting was greater among people who were overweight or obese, those who were physically active, adults compared with teenagers, and women compared with men. INTERPRETATION: Under-reporting of energy intake is not random and varies by key health determinants. Awareness of the characteristics associated with under-reporting is important for users of nutrition data from the CCHS 2.2.

Gaultier, C. (1999). "Sleep apnea in infants." Sleep Medicine Reviews 3(4): 303-312.

Infancy is a developmental period characterized by instability of the control of breathing. Apneas of short duration are common, mostly central, and more frequent during rapid-eye-movement (REM) sleep. Obstructive apneas are rare in healthy control infants. Triggering factors such as respiratory syncitial virus infection can increase the frequency and the duration of apneas. Upper airway problems related to bone malformations, soft tissue infiltration, and neurologic lesions are responsible for obstructive apneas, but also for episodes of partial airway obstruction or upper airway resistance syndrome. In certain infants, an apparent-life-threatening event has been related to upper airway anomalies. Congenital central hypoventilation syndrome, a rare respiratory control disorder, may be presented by apneas. Polysomnography is the gold standard for the diagnosis of sleep-disordered-breathing in infants. Early diagnosis of abnormal breathing during sleep is of critical importance for the neurocognitive development in infants.

Gaultier, C. (2000). "[Respiratory tests in sleep disorders in children]." REVUE DES MALADIES RESPIRATOIRES 17(5): 933-8.

Nocturnal polysomnography is the reference tool for the exploration of sleep disorders in children. Noninvasive methods are to be preferred for children. Recording respiratory signals identifies respiratory events (episodes of apnea, hyponea) and their effect on gas exchange. Measuring esophageal pressure, the only quantitative measure of respiratory exertion, is required for the diagnosis of high-resistant upper airways syndrome. Recordings of neurophysiolgical signals can be used to analyze sleep organization and to quantify cortical awaking reactions. The most frequent indication in pediatric patients with sleep disorders is to explore suspected obstructive sleep apnea syndrome. The prevalence of this syndrome in the general pediatric population would be 1.6%, increasing to 8.4% in members of a family with a child having obstructive sleep apnea syndrome. [References: 38]

Gaultier, C. (2002). "Sleep apnoea in infants." Current Anaesthesia and Critical Care 13(1): 30-36.

Infancy is a developmental period characterized by instability of the control of breathing. Apnoeas of short duration are common, mostly central, and more frequent during rapid-eye-movement (REM) sleep. Obstructive apnoeas are rare in healthy control infants. Triggering factors such as respiratory syncitial virus infection can increase the frequency and the duration of apnoeas. Upper airway problems related to bone malformations, soft tissue infiltration, and neurologic lesions are responsible for obstructive apnoeas, and also for episodes of partial airway obstruction or upper airway resistance syndrome. In certain infants an apparent life-threatening event has been related to upper airway anomalies. Congenital central hypoventilation syndrome, a rare respiratory control disorder, may be presented by apnoeas. Polysomnography is the gold standard for the diagnosis of sleep-disordered breathing in infants. Early diagnosis of abnormal breathing during sleep is of critical importance for neurocognitive development in infants. copyright 2002 Published by Elsevier Science Ltd.

Gaultier, C. (2003). "Sleep apnoea in infants." Current Paediatrics 13(1): 64-68.

Infancy is characterized by an instability of the control of breathing. Apnoeas of short duration are common, mostly central and more frequent during rapid eye movement sleep. Obstructive apnoeas are rare in healthy infants. Triggering factors, such as respiratory syncytial virus infection, can increase the frequency and duration of apnoeas. Upper airway problems are responsible for obstructive apnoeas as well as for episodes of partial airway obstruction or upper airway resistance syndrome. In some infants, apparent life-threatening events have been related to upper airway anomalies. Congenital central hypoventilation syndrome, a rare respiratory control disorder, may present with apnoeas. Polysomnography is the gold standard for diagnosing sleep-disordered breathing in infants. Nasal continuous positive airway pressure is feasible in infants, and the early diagnosis of abnormal breathing during sleep is of critical importance for neurocognitive development in infants. copyright 2003 Elsevier Science Ltd.

Gaultier, C. (2005). "Functional brain deficits in congenital central hypoventilation syndrome: commentary on the articles by Woo et al. on page 510 and Macey et al. on page 500." PEDIATRIC RESEARCH 57(4): 471-2.

Gaultier, C., J. Amiel, et al. (2004). "Genetics and early disturbances of breathing control." PEDIATRIC RESEARCH 55(5): 729-33.

Early disturbances in breathing control, including apneas of prematurity and apparently life-threatening events, account for some cases of sudden infant death syndrome and for a rare disorder called congenital central hypoventilation syndrome (CCHS). Data suggesting a genetic basis for CCHS have been obtained. Recently, we found heterozygous de novo mutations of the PHOX2B gene in 18 of 29 individuals with CCHS. Most mutations consisted of five to nine alanine expansions within a 20-residue polyalanine tract, probably resulting from nonhomologous recombination. Other mutations, generally inherited from one of the parents, in the coding regions of genes involved in the endothelin and RET signaling pathways and in the brain-derived-neurotrophic factor (BDNF) gene have been found in a few CCHS patients. Interestingly, all these genes are involved in the development of neural crest cells. Targeted disruption of these genes in mice has provided information on the pathophysiological mechanisms underlying CCHS. Despite the identification of these genes involved in breathing control, none of the genetically engineered mice developed to date replicate the full human CCHS respiratory phenotype. Recent insights into the genetic basis for CCHS may shed light on the genetics of other early disturbances in breathing control, such as apnea of prematurity and sudden infant death syndrome. [References: 50]