Literature search from ms 29/4/2010

Eavey, R. D., D. C. Shannon, et al. (1985). "'How I do it' - head and neck and plastic surgery. A targeted problem and its solution. Customizing tracheotomy tubes." LARYNGOSCOPE 95(11): 1407-1408.

Many otolaryngologists have probably been in a situation where they wished to make a slight modification of a standard tracheotomy tube for the benefit of the patient. We have found a particular need to modify tracheotomy tubes in a special group of chronically tracheotomized children who are ventilator dependent during sleep. Their condition is known as central hypoventilation syndrome, formerly called Ondine's Curse.

Eggermont, J. J. (2000). "Sound-induced synchronization of neural activity between and within three auditory cortical areas." JOURNAL OF NEUROPHYSIOLOGY 83(5): 2708-2722.

Neural synchrony within and between auditory cortical fields is evaluated with respect to its potential role in feature binding and in the coding of tone and noise sound pressure level. Simultaneous recordings were made in 24 cats with either two electrodes in primary auditory cortex (AI) and one in anterior auditory field (AAF) or one electrode each in AI, AAF, and secondary auditory cortex. Cross-correlograms (CCHs) for 1-ms binwidth were calculated for tone pips, noise bursts, and silence (i.e., poststimulus) as a function of intensity level. Across stimuli and intensity levels the total percentage of significant stimulus onset CCHs was 62% and that of significant poststimulus CCHs was 58% of 1,868 pairs calculated for each condition. The cross-correlation coefficient to stimulus onsets was higher for single-electrode pairs than for dual-electrode pairs and higher for noise bursts compared with tone pips. The onset correlation for single-electrode pairs was only marginally larger than the post-stimulus correlation. For pairs from electrodes across area boundaries, the onset correlations were a factor 3-4 higher than the poststimulus correlations. The within-AI dual electrode peak correlation was higher than that across areas, especially for spontaneous conditions. Correlation strengths for between area pairs were independent of the difference in characteristic frequency (CF), thereby providing a mechanism of feature binding for broadband sounds. For noise- burst stimulation, the onset correlation for between area pairs was independent of stimulus intensity regardless the difference in CF. In contrast, for tone-pip stimulation a significant dependence on intensity level of the peak correlation strength was found for pairs involving AI and/or AAF with CF difference less than one octave. Across all areas, driven rate, between-area peak correlation strength, or a combination of the two did not predict stimulus intensity. However, between-area peak correlation strength performs better than firing rate to decide if a stimulus is present or absent.

Elgar, G. and T. Vavouri (2008). "Tuning in to the signals: noncoding sequence conservation in vertebrate genomes." TRENDS IN GENETICS 24(7): 344-52.

Aligning and comparing genomic sequences enables the identification of conserved sequence signatures and can enrich for coding and noncoding functional regions. In vertebrates, the comparison of human and rodent genomes and the comparison of evolutionarily distant genomes, such as human and pufferfish, have identified specific sets of 'ultraconserved' sequence elements associated with the control of early development. However, is this just the tip of a 'conservation iceberg' or do these sequences represent a specific class of regulatory element? Studies on the zebrafish phox2b gene region and the ENCODE project suggest that many regulatory elements are not highly conserved, posing intriguing questions about the relationship between noncoding sequence conservation and function and the evolution of regulatory sequences. [References: 63]

el-Guebaly, N., S. Currie, et al. (2007). "Association of mood, anxiety, and substance use disorders with occupational status and disability in a community sample.[Erratum appears in Psychiatr Serv. 2007 Jun;58(6):863 Note: Wang, Jilian [corrected to Wang, JianLi]]." PSYCHIATRIC SERVICES 58(5): 659-67.

OBJECTIVE: This study examined associations between mood disorders, anxiety disorders, substance dependence or harmful alcohol use, and occupational status and disability in a general population sample. METHODS: Data from the Canadian Community Health Survey Cycle 1.2-Mental Health and Well-Being (CCHS-1.2), a representative cross-sectional survey, were analyzed. The total sample was narrowed to individuals between the ages of 18 and 64 years, the age range most likely to be working. RESULTS: Of the 27,332 persons surveyed, 946 had a mood disorder only, 831 had an anxiety disorder only, 730 had substance dependence only, and 966 had more than one disorder. Twenty-three percent reported that during the previous week they were not at a job or were permanently unable to work (27% with mood disorder only, 30% with anxiety disorder only, and 20% with substance dependence only, and 34% with more than one disorder). In unadjusted analyses, mood and anxiety disorders were associated with absence from work during the week preceding the interview, whereas substance dependence was not. After adjustment for other variables using logistic regression, an association of substance dependence and work absence emerged. Each category of disorder was strongly associated with a greater likelihood of disability days or days spent in bed for mental health reasons. CONCLUSIONS: On a population level, mood and anxiety disorders and substance dependence were associated both with not working during the week preceding the interview as well as an increase in reported disability or bed days. The strength of association appears to be stronger for mood and anxiety disorders.

el-Halaby, E. and A. G. Coran (1994). "Hirschsprung's disease associated with Ondine's curse: report of three cases and review of the literature." JOURNAL OF PEDIATRIC SURGERY 29(4): 530-5.

The cases of three full-term infant girls with both Hirschsprung's disease (HD) and Ondine's curse (OC) are presented, and the relevant literature is reviewed. All three patients required endotracheal intubation and assisted ventilation during the first 24 hours of life because of respiratory distress. The diagnosis of HD was subsequently established at age 13, 16, and 20 days, respectively. The aganglionic segment was confirmed to the rectum in one case, extended to the splenic flexure of the colon in the second case, and involved the terminal ileum in the third. The definitive treatment (endorectal pull-through) was completed successfully in all three patients, and the postoperative follow-up period was 3 to 34 months. All of them presently have tracheostomies and are maintained on home ventilation. They tolerate being off the ventilator while awake, and have nearly normal bowel habits and growth curves. Two have bilateral ciliary ganglion dysfunction, and one has strabismus. Based on this review, the authors conclude the following. (1) The incidence of the HD associated with OC may be more common than is generally believed (1.8% of all their HD patients have OC). (2) OC should be suspected in any newborn with HD who requires assisted ventilation in the absence of major cardiopulmonary abnormalities. Likewise, HD should be ruled out in any OC case with gastrointestinal dysfunction. (3) Contrary to the previous impression from the literature, the combination of OC and HD should not be considered fatal, because most such patients can be managed successfully and have a reasonable quality of life.(ABSTRACT TRUNCATED AT 250 WORDS) [References: 50]

Elworthy, S., J. P. Pinto, et al. (2005). "Phox2b function in the enteric nervous system is conserved in zebrafish and is sox10-dependent." MECHANISMS OF DEVELOPMENT 122(5): 659-669.

Zebrafish lacking functional sox10 have defects in non-ectomesenchymal neural crest derivatives including the enteric nervous system (ENS) and as such provide an animal model for human Waardenburg Syndrome IV. Here, we characterize zebrafish phox2b as a functionally conserved marker of the developing ENS. We show that morpholino-mediated knockdown of Phox2b generates fish modeling Hirschsprung disease. Using markers, including phox2b, we investigate the ontogeny of the sox10 ENS phenotype. As previously shown for melanophore development, ENS progenitor fate specification fails in these mutant fish. However, in addition, we trace back the sox10 mutant ENS defect to an even earlier time point, finding that most neural crest cells fail to migrate ventrally to the gut primordium. copyright 2005 Elsevier Ireland Ltd. All rights reserved.

Ernsberger, U., E. Reissmann, et al. (2000). "The expression of dopamine beta-hydroxylase, tyrosine hydroxylase, and Phox2 transcription factors in sympathetic neurons: Evidence for common regulation during noradrenergic induction and diverging regulation later in development." MECHANISMS OF DEVELOPMENT 92(2): 169-177.

During differentiation of sympathetic neurons in chick embryos, tyrosine hydroxylase (TH) and dopamine beta-hydroxylase (DBH) mRNAs become detectable during the same developmental period and are both induced by BMP 4. Later during sympathetic ganglion development, DBH is detectable in TH-positive and -negative cells. Moreover, BMPs reduce DBH mRNA in cultures of sympathetic neurons while leaving TH unaffected. The data provide evidence for a common regulation of TH and DBH early during sympathetic neuron differentiation and indicate that BMPs promote their initial expression but not the maintenance during later development. The time course of Phox2a and 2b expression suggests an evolutionary conserved role in noradrenergic induction. In addition, Phox2a, Phox2b, and c-ret may be involved in the differentiation of cholinergic sympathetic neurons. (C) 2000 Elsevier Science Ireland Ltd.

Ersu, R., B. Karadag, et al. (2004). "A case of congenital central hypoventilation syndrome: A care report. [Turkish]." Cocuk Sagligi ve Hastaliklari Dergisi 47(1): 41-45.

Congenital central hypoventilation syndrome is a rare syndrome defined as the failure of automatic control of breathing, which, is present from birth, and of unknown etiology. In these patients, ventilation is more severely affected during sleep and they require chronic ventilation therapy. Although it is a rare disease, these patients can lead a long and good quality life as long as they are diagnosed timely and treated appropriately. In this paper, a 22-month-old patient is presented. She had required ventilatory support since birth and received home mechanical ventilation via tracheostomy at four months of age.

Espinosa, R. and J. L. Alonso Calderon (2009). "[Neural crest disorders and Hirschsprung's disease]." CIRUGIA PEDIATRICA 22(1): 25-8.

The term Neurocristopathy describes a group of conditions caused by aberrations in growth, migration and differentiation of neural crest cells. In this sense, Hirschsprung's disease is a consequence of a failure in neural crest cells migration to distal intestine and in consequence it is considered to be part of neurocristopathy concept. This concept includes several diseases that can present either alone or in combination as a syndrome. We present 4 patients suffering Hirschsprung's disease associated with others neurocristopathies: 1 Waardenburg's syndrome, 1 congenital central hypoventilation syndrome or Ondine's curse, 1 ganglioneuroblastoma and 1 patient with bilateral sensory deafness.

Evans, J. and Y. Chen (2009). "The association between home and vehicle environmental tobacco smoke (ETS) and chronic bronchitis in a Canadian population: the Canadian Community Health Survey, 2005." Inhalation Toxicology 21(3): 244-9.

This study aimed to determine the association between home and vehicle exposure to environmental tobacco smoke (ETS), and chronic bronchitis based on data from 64,961 non-smokers aged 12 years and older who participated in the 2005 Canadian Community Health Survey (CCHS). The proportion of respondents who reported ETS exposure in the home and vehicle was 9.0% and 8.4% respectively. The prevalence of self-reported doctor diagnosed chronic bronchitis was 1.5%. When considered separately, home and vehicle ETS were both significantly associated with chronic bronchitis in children and adolescents aged 12-19 years, with adjusted odds ratios of 2.30 (95% CI 1.46-3.63) and 2.25 (95% CI 1.42-3.58), respectively. Neither home, nor vehicle ETS exposure was significantly associated with chronic bronchitis in age groups greater than 19 years. When home and vehicle ETS exposure were considered together, and sex, age, allergies, asthma, marital status, level of education, and race where controlled for, home ETS exposure was not a significant predictor of chronic bronchitis (P = 0.296), while vehicle ETS was. The correlation between exposure variables was fair, with a kappa coefficient of 0.40 (P < 0.0001). Females, older age groups, non-white individuals, asthmatic patients, as well as individuals with allergies, no high school diploma, and those who were previously married had higher odds of chronic bronchitis. In conclusion, vehicle exposure to ETS was significantly associated with chronic bronchitis, and children and adolescents exposed to ETS were more susceptible to the disease.

Faigel, H. C. (1974). "Ondine's curse and sudden infant death syndrome: teetering on the brink." CLINICAL PEDIATRICS 13(7): 567-8.

Fan, Y., J. Huang, et al. (2009). "Effects of transcription factors Phox2 on expression of norepinephrine transporter and dopamine beta-hydroxylase in SK-N-BE(2)C cells." JOURNAL OF NEUROCHEMISTRY 110(5): 1502-13.

Phox2a and Phox2b are two homeodomain proteins that control the differentiation of noradrenergic neurons during embryogenesis. In the present study, we examined the possible effect of Phox2a/2b on the in vitro expression of the norepinephrine transporter (NET) and dopamine beta-hydroxylase (DBH), two important markers of the noradrenergic system. SK-N-BE(2)C cells were transfected with cDNAs or short hairpin RNAs specific to the human Phox2a and Phox2b genes. Transfection of 0.1 to 5 mug of cDNAs of Phox2a or Phox2b significantly increased mRNA and protein levels of NET and DBH in a concentration-dependent manner. As a consequence of the enhanced expression of NET after transfection, there was a parallel increase in the uptake of [(3)H]norepinephrine. Co-transfection of Phox2a and Phox2b did not further increase the expression of noradrenergic markers when compared with transfection of either Phox2a or Phox2b alone. Transfection of shRNAs specific to Phox2a or Phox2b genes significantly reduced mRNA and protein levels of NET and DBH after shutdown of endogenous Phox2, which was accompanied by a decreased [(3)H]norepinephrine uptake. Furthermore, there was an additive effect after cotransfection with both shRNAs specific to Phox2a or Phox2b genes on NET mRNA levels. Finally, the reduced DBH expression caused by the shRNA specific to Phox2a could be reversed by transfection with Phox2b cDNA and vice versa. The present findings verify the determinant role of Phox2a and Phox2b on the expression and function of NET and DBH in vitro. Further clarifying the regulatory role of these two transcription factors on key proteins of the noradrenergic system may open a new avenue for therapeutics of aging-caused dysfunction of the noradrenergic system.
Faure, C., F. Viarme, et al. (2002). "Abnormal esophageal motility in children with congenital central hypoventilation syndrome." GASTROENTEROLOGY 122(5): 1258-63.

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. Because swallowing-induced peristalsis is centrally controlled and depends on neural crest-derived esophageal innervation, we looked for esophageal dysmotility in patients with congenital central hypoventilation syndrome. METHODS: Seven patients without dysphagia or any other upper gastrointestinal tract symptoms were studied prospectively (5 girls and 2 boys; median age, 14 years; range, 11-18 years). They were compared with 7 age- and sex-matched controls. Esophageal manometry was performed using a low-compliance infusion system and the station pull-through technique. At least 10 wet swallows were analyzed in each subject. RESULTS: Pressure wave propagation was abnormal in all 7 patients (median percentage of swallows propagated, 18%, and range, 0-66; controls, 90% and 80-100; P < 0.001). Lower esophageal sphincter relaxation was abnormal in 5 patients (patients, 73% and 53-100; controls, 95% and 90-100; P = 0.01). In 2 patients, lower esophageal sphincter pressure was above the 95th percentile of control values. CONCLUSIONS: These abnormalities are strong evidence of lower esophageal dysfunction in congenital central hypoventilation syndrome. We speculate that the underlying mechanism may be dysfunction of the central structures that control swallowing.

Feldman, J. L., D. Sommer, et al. (1980). "Short time scale correlations between discharges of medullary respiratory neurons." JOURNAL OF NEUROPHYSIOLOGY 43(5): 1284-1295.

The interactions on a short time scale among the inspiratory (I) neurons and among expiratory (E) neurons of the cat medulla have been studied by analyzing simultaneous recordings of spike activity from two or more neurons. Microelectrodes were used to record activity in three regions: a) the ventrolateral nucleus of the solitary tract (vlNTS), containing I neurons almost exclusively; b) the rostral portion of the ventral respiratory group (rVRG), in the ventrolateral medulla rostral to the obex, containing mostly I neurons; and c) the caudal portion of the VRG (cVRG), containing mainly E neurons. Cross-correlation histograms (CCHs) between activities of two I neurons or two E neurons were used to ascertain the existence of correlated discharges on a short time scale (ca. 1 msec), as indicated by a sharp peak near zero lag in the CCH. Adjacent neuron pairs (recorded with the same electrode) have a high incidence of such correlated discharges: they were present in 16/26 pairs of I neurons and 28/45 pairs of E neurons. In contrast, such correlations were extremely rare for pairs of contralateral distant neurons (recorded with two microelectrodes on opposite sides of the medulla): only 1/43 I neuron distant pairs had a clear-cut peak in the CCH and none of the 97 (0/97) E neuron distant pairs had such a peak. However, an additional 18 I neuron distant pairs had common high-frequency oscillations (HFOs), with period 9-17 msec. These results indicate that: a) within local clusters of I or E neurons, there is a high incidence of local interactions and/or locally shared inputs; b) only a small fraction of distant neuron pairs are oligosynaptically connected. Since respiratory neurons of a particular discharge type are ultimately connected, as indicated by sychronization of firing on a time scale of seconds or tens of milliseconds (HFOs), the coordination of activity between distant regions is probably produced by limited and specific connections between specialized subpopulations.

Ferrence, R. and T. Stephens (2000). "Commentary. monitoring tobacco use in canada: the need for a surveillance strategy." CHRONIC DISEASES IN CANADA 21(2): 50-3.

Smoking behaviour has been monitored nationally through population surveys for 35 years in Canada, but these surveys have not been as consistent or rigorous as the magnitude of the smoking problem demands. Inconsistent methods and irregular survey intervals are just two of the characteristics that have made it difficult to know exactly how smoking is changing. Further, an absence of routine data on tobacco control policies (other than the price of cigarettes) has hampered understanding of the determinants of changing prevalence. The advent of two survey series--Canadian Tobacco Use Monitoring Survey (CTUMS) and Canadian Community Health Survey (CCHS) promises to change this situation for the better. We suggest that both are critical elements of a national smoking surveillance system and that, with a commitment to CTUMS in particular, Health Canada could set a new international standard for surveillance.

Fiatarone Singh, M. A., M. A. Bernstein, et al. (2000). "The effect of oral nutritional supplements on habitual dietary quality and quantity in frail elders." The journal of nutrition, health & aging(1): 5-12.

BACKGROUND: Frail institutionalized elders have a high prevalence of nutritional risk factors, undernutrition, weight loss, and nutrition-related morbidity and excess mortality. Little information is available on effective means to intervene in this setting. HYPOTHESES: We tested the hypothesis that addition of multinutrient oral supplements to the diet of frail elders would improve their overall nutritional status and functional level. METHODS: Fifty nursing home residents aged 88+/-1 yr. were followed for 10 weeks in the course of a randomized controlled trial of supplementation with a multinutrient liquid supplement vs. a non-nutritive placebo drink. Three-day food weighing was used to analyze their habitual dietary intake before and during the final week of the intervention. Nutritional status was further assessed with nutritional biochemistries, anthropometric measurements, and body composition analysis as well as physical and functional performance tests. RESULTS: The nutritional supplement was consumed with high compliance, but did not significantly augment total caloric intake. Supplementation was associated with significant reductions in total energy, protein, fat, water, fiber, and many vitamins and minerals in the habitual diet of these nursing home residents. Nutritional status improved in terms of folate levels in serum, but no other measured vitamin or mineral indices. Body composition analysis revealed a small gain in weight, increases in fat stores, but no improvement in lean tissue mass associated with supplemention. No physical performance or functional gains were associated with supplementation. CONCLUSION: Short-term nutritional supplementation in elders at nutritional risk is offset by simultaneous reduction in voluntary food intake. It seems likely that changing other components of energy expenditure such as physical activity levels or basal metabolism may be required to produce overall improvements in nutritional intake in this setting.

Fielding, J. W., A. Tuul, et al. (1975). ""Ondine's curse". A complication of upper cervical-spine surgery." Journal of Bone & Joint Surgery - American Volume 57(7): 1000-1.

Fikretoglu, D., A. Brunet, et al. (2007). "Mental health treatment seeking by military members with posttraumatic stress disorder: findings on rates, characteristics, and predictors from a nationally representative Canadian military sample." Canadian Journal of Psychiatry - Revue Canadienne de Psychiatrie 52(2): 103-10.

OBJECTIVE: The goal of this study was to identify rates, characteristics, and predictors of mental health treatment seeking by military members with posttraumatic stress disorder (PTSD). METHOD: Our sample was drawn from the 2002 Canadian Community Health Survey-Canadian Forces Supplement (CCHS-CF) dataset. The CCHS-CF is the first epidemiologic survey of PTSD and other mental health conditions in the Canadian military and includes 8441 nationally representative Canadian Forces (CF) members. Of those, 549 who met the criteria for lifetime PTSD were included in our analyses. To identify treatment rates and characteristics, we examined frequency of treatment contact by professional and facility type. To identify predictors of treatment seeking, we conducted a binary logistic regression with lifetime treatment seeking as the outcome variable. RESULTS: About two-thirds of those with PTSD consulted with a professional regarding mental health problems. The most frequently consulted professionals, during both the last year and lifetime, included social workers and counsellors, medical doctors and general practitioners, and psychiatrists. Consultations during the last year most often took place in a CF facility. Treatment seeking was predicted by cumulative lifetime trauma exposure, index traumatic event type, PTSD symptom interference, and comorbid major depressive disorder. Those with comorbid depression were 3.75 times more likely to have sought treatment than those without. CONCLUSIONS: Although a significant portion of military members with PTSD sought mental health treatment, 1 in 3 never did. Trauma-related and illness and (or) need factors predicted treatment seeking. Of all the predictors of treatment seeking, comorbid depression most increased the likelihood of seeking treatment.