Literature search from ms 29/4/2010

Chi, W. C., C. H. M. Yan, et al. (2007). "Zebrafish homologue irx1a is required for the differentiation of serotonergic neurons." DEVELOPMENTAL DYNAMICS 236(9): 2661-2667.

Serotonergic (5HT) neurons produce neurotransmitter serotonin, which modulates various neuronal circuits. The specification and differentiation of 5HT neurons require both extrinsic signals such as Shh and Fgf, as well as intrinsic transcription factors such as nkx2.2, mash1, phox2b, Gata2, and pet1. In this study, we show that iroquois homeodomain factor irx1a, but not irx1b, is expressed in the 5HT neurons. Knockdown of irx1a by antisense morpholino nucleotides reveals that it is a critical determinant for the differentiation of 5HT neurons in the hindbrain. However, irx1a morphants do not show a reduction of the progenitors of 5HT neurons. Hence, irx1a is not required for the initial specification but it is required for the complete differentiation of 5HT neurons. copyright 2007 Wiley-Liss, Inc.

Chiaretti, A., G. Zorzi, et al. (2005). "Neurotrophic factor expression in three infants with Ondine's curse." PEDIATRIC NEUROLOGY 33(5): 331-6.

This study investigates the expression of some neurotrophic factors (brain-derived neurotrophic factor, glial-derived neurotrophic factor, and nerve growth factor) in the cerebrospinal fluid of infants suffering from idiopathic congenital central hypoventilation syndrome and determines their correlations with this syndrome. Cerebrospinal fluid samples were collected from three infants suffering from idiopathic congenital central hypoventilation syndrome and 15 control subjects with obstructive hydrocephalus to measure the expression of brain-derived neurotrophic factor, glial-derived neurotrophic factor, and nerve growth factor using an immunoenzymatic assay. In the cerebrospinal fluid of patients, analysis of neurotrophic factors expression indicated a reduction, not statistically significant, of brain-derived neurotrophic factor compared with the mean level of the control group (1554 pg/mL, 1509 pg/mL, and 1582 pg/mL respectively, in comparison to 1954 +/- 103 pg/mL), whereas nerve growth factor and glial-derived neurotrophic factor did not undergo significant variations in either group. Neurotrophic factors, namely brain-derived neurotrophic factor, regulate the maturation and differentiation of respiratory neurons. The reduced expression of brain-derived neurotrophic factor in the cerebrospinal fluid samples of infants with Ondine's curse, although not statistically significant, is suggestive of a dysregulation in the brain-derived neurotrophic factor synthesis that could play an important role in the breathing disorders observed in patients with idiopathic congenital central hypoventilation syndrome.

Child, F. and J. Couriel (1998). "The control of breathing with reference to congenital central hypoventilation syndrome." JOURNAL OF THE ROYAL SOCIETY OF MEDICINE 91(9): 479-83.

Chow, C.-M., L. Donovan, et al. (2005). "Regional variation in self-reported heart disease prevalence in Canada." CANADIAN JOURNAL OF CARDIOLOGY 21(14): 1265-71.

BACKGROUND: Cardiovascular disease is the leading cause of death in Canada. OBJECTIVE: To provide an analysis of the self-reported prevalence of heart disease and three specific cardiac conditions--myocardial infarction (MI), angina and congestive heart failure (CHF)--in subgroups of the Canadian population. METHODS: Data from the Public Use Microdata File from Statistics Canada's 2000/2001 Canadian Community Health Survey (CCHS) were used to estimate the crude self-reported prevalence of heart disease, MI, angina and CHF in Canada. The data are reported by age and sex groups, as well as by province or territory and health region. RESULTS: Based on the 2000/2001 CCHS data, it was estimated that among Canadians 12 years of age and older, 5.0% (n=1,286,000) have heart disease, 2.1% (n=537,000) have had a heart attack, 1.9% (n=483,000) have angina and 1.0% (n=264,000) have CHF. Marked variation in the prevalence of heart disease and the other specific cardiac conditions exists across age and sex groups, and across geographical regions. The prevalence of heart disease is low among those younger than 50 years; thereafter, the prevalence of heart disease increases and is more common among men than among women. By 70 years of age, at least one in four men and one in five women report having heart disease. Large differences in the burden of heart disease were observed across provinces, territories and health regions. Comparison of the highest and lowest prevalence rates among provinces and territories revealed a 1.9-fold difference for heart disease, a 2.8-fold difference for MI, a 2.3-fold difference for angina and a 3.3-fold difference for CHF. CONCLUSIONS: Large regional differences in the prevalence of heart disease and other specific cardiac conditions were observed across Canada. These data may assist health system planners to identify those regions and population subgroups most affected by heart disease, and to support the development of heart disease prevention and treatment programs.
Cirignotta, F., M. Schiavina, et al. (1996). "Central alveolar hypoventilation (Ondine's curse) treated with negative pressure ventilation." MONALDI ARCHIVES FOR CHEST DISEASE 51(1): 22-6.

A 22 year old woman with central alveolar hypoventilation (CAH) underwent repeated nocturnal polysomnographic recordings to assess the efficacy of negative pressure ventilation (NPV) administered by pneumowrap. The NPV successfully prevented hypoxia during most of the recording time; however, a sudden severe hypoxic episode not related to an apnoea occurred during a recording night with NPV. This made home use advisable together with an ear oximeter fitted with an alarm.

Clark, R. W., H. S. Schmidt, et al. (1978). "Reversal of chronic diabetes insipidus during treatment with protriptyline." SOUTHERN MEDICAL JOURNAL 71(12): 1567-8.

We have described a 13-year-old white boy with Ondine's curse, sleep apnea and cataplexy who simultaneously developed progressive hypothalamic neuroendocrine deficiencies requiring replacement therapy. The patient was treated with protriptyline, a nonsedating tricyclic antidepressant, for control of the sleep-related symptoms. An unexpected result was the apparent reversal of his chronic diabetes insipidus by protriptyline, necessitating discontinuation of lysine-vasopressin. Some possible mechanisms of action were discussed.

Clarke, D. E., A. Colantonio, et al. (2008). "Pathways to suicidality across ethnic groups in Canadian adults: the possible role of social stress." PSYCHOLOGICAL MEDICINE 38(3): 419-31.

BACKGROUND: Ethnicity is an important determinant of mental health outcomes including suicidality (i.e. suicidal ideation and suicide attempt). Understanding ethnic differences in the pathways to suicidality is important for suicide prevention efforts in ethnically diverse populations. These pathways can be conceptualized within a social stress framework. METHOD: The study examines ethnic differences in the pathways to suicidality in Canada within a social stress framework. Using data from the Canadian Community Health Survey Cycle 1.1 (CCHS 1.1) and path analysis, we examined the hypotheses that variations in (1) socio-economic status (SES), (2) sense of community belonging (SCB), (3) SES and SCB combined, and (4) SES, SCB and clinical factors combined can explain ethnic differences in suicidality. RESULTS: Francophone whites and Aboriginals were more likely to report suicidality compared to Anglophone whites whereas visible minorities and Foreign-born whites were least likely. Disadvantages in income, income and education, income and its combined effect with depression and alcohol dependence/abuse led to high rates even among the low-risk visible minority group. Indirect pathways for Asians differed from that of Blacks and South Asians, specifically through SCB. With the exception of SCB, Aboriginals were most disadvantaged, which exacerbated their risk for suicidality. However, their strong SCB buffered the risk for suicidality across pathways. Disadvantages in education, income and SCB were associated with the high risk for suicidality in Francophone whites. CONCLUSIONS: Francophone whites and Aboriginals had higher odds of suicidality compared to Anglophone whites; however, some pathways differed, indicating the need for targeted program planning and prevention efforts.

Coccagna, C., F. Cirignotta, et al. (1984). "A polygraphic study of one case of primary alveolar hypoventilation (Ondine's curse)." Bulletin Europeen de Physiopathologie Respiratoire 20(2): 157-61.

We report here on a case of primary alveolar hypoventilation in a 9 yr old child. From the age of 8 years, the patient has suffered from episodes of bronchopneumonia associated with severe respiratory insufficiency and lethargy. After recovery, cyanosis developed during the night and, later on, during the day. On two occasions, serious respiratory depression followed ketamine sedation for cardiac catheterization and total anaesthesia for cerebral angiography. Pulmonary function tests showed normal volumes and normal mechanics of breathing; blood gas analysis revealed a slight hypercapnic acidosis and hypoxia. The ventilatory response to CO2 was virtually absent, whereas voluntary hyperventilation normalized blood gas values. A polygraphic recording during sleep showed a marked worsening of hypoventilation, which occurred soon after falling asleep and continued throughout all sleep stages; sporadic central apnoeas, at times prolonged, were recorded only during light sleep. The patient, now 14 yr old, is maintained in satisfactory condition with low flow nocturnal oxygen administration combined with the use of a body respirator during sleep twice a week.

Cohen, M. I. and J. L. Feldman (1984). "Discharge properties of dorsal medullary inspiratory neurons: Relation to pulmonary afferent and phrenic efferent discharge." JOURNAL OF NEUROPHYSIOLOGY 51(4): 753-776.

1. In decerebrate paralyzed cats ventilated with a cycle-triggered pump system that delivered inflation during the central inspiratory (I) phase (indicated by efferent phrenic discharge), activity of 90 neurons with inspiratory-modulated discharge was recorded in the region of the ventrolateral nucleus of tractus solitarius (vlNTS) in the medulla. Of these, 82 had centrally originating I patterns (69 augmenting, 13 decrementing), and 8 were 'pump' neurons. 2. The neurons were classified into functional types by the application of inflation tests, the main test being withholding of the inflation usually delivered during the central I phase. This maneuver eliminated phasic pulmonary afferent input and produced lengthening of the I phase. The neurons' responses were heterogeneous, and were classified as: excitation by inflation (inflation (+)), no significant effect of inflation (inflation(0)), and depression by inflation (inflation(-)). Application of inflation during the expiratory (E) phase only rarely produced excitation of central I neurons. 3. The I neurons excited by inflation correspond to the 'I-beta' neurons of earlier studies. On the basis of the multimodal distribution of their discharge onset times relative to phrenic onset, they were classified as early onset or late onset. In contrast, the inflation (0) and inflation (-) neurons, which correspond to the 'I-alpha' neurons, almost exclusively had early onsets. 4. The pump neurons could be distinguished from the inflation(+) I neurons by the effects of inflations delivered during E: the former were equally excited by inflations during E and during I, while the latter were not excited or were minimally excited by inflation during E. Thus, the pump neurons had lung afferent inputs but no inputs from the central I pattern generator, while the inflation(+) I neurons had both kinds of input. 5. The neurons having decrementing discharge during I (early inspiratory and expiratory-inspiratory) were depressed by inflation. 6. Cross-correlation histograms (CCH) of unit firing versus whole phrenic (contralateral and ipsilateral) activity on a short time scale (milliseconds) were computed; the majority of these had high-frequency oscillations, with mean period of 14.6 +/- 3.6 (SD) ms. The CCHs for the different groups of neurons were analyzed with respect to a) strength of correlation as a function of laterality and b) lag of the main correlation peak. Both the inflation(0) and inflation(+) neuronal groups had correlation properties suggesting that these neurons monosynaptically excite phrenic motoneurons. 7. The possible functions of the different types of neuron are discussed with respect to a) processing of pulmonary afferent inputs, b) termination of the I phase, and c) transmission of inputs to phrenic motoneurons.

Coleman, M., S. J. Boros, et al. (1980). "Congenital central hypoventilation syndrome. A report of successful experience with bilateral diaphragmatic pacing." ARCHIVES OF DISEASE IN CHILDHOOD 55(11): 901-3.

Bilateral diaphragmatic pacing was successfully performed in an 18-month-old child with congenital central hypoventilation syndrome (Ondine's curse) as an alternative to long-term mechanical ventilation. Subsequent complications were related more to cor pulmonale and tracheostomy care than to the pacing itself.

Colp, C., R. Schneider, et al. (1989). "Ondine's curse revisited." New York State Journal of Medicine 89(4): 228-30.

Commare, M. C., B. Francois, et al. (1993). "Ondine's curse: a discussion of five cases." NEUROPEDIATRICS 24(6): 313-8.

Five cases of central congenital hypoventilation, Ondine's curse, were studied. The diagnostic criteria were: lack of respiratory autonomy during sleep, abnormal CO2 test results and abnormal respiratory monitoring results during sleep. This hypoventilation induced chronic complications, such as a pulmonary arterial hypertension and psychomotor and/or growth retardation. The other conditions frequently associated with Ondine's curse were: brainstem disturbances, Hirschsprung disease and neuroblastoma. Since other brainstem dysfunctions are sometimes associated with hypoventilation and because complications can arise, these children routinely underwent complementary investigations. Treatment was symptomatic. Assisted mechanical ventilation was initiated as soon as possible and carefully monitored. The prognosis for these children has greatly improved and some of them lead a normal life with nightly assisted ventilation at home.
Coppola, E., A. Pattyn, et al. (2005). "Reciprocal gene replacements reveal unique functions for Phox2 genes during neural differentiation." EMBO Journal 24(24): 4392-4403.

The paralogous paired-like homeobox genes Phox2a and Phox2b are involved in the development of specific neural subtypes in the central and peripheral nervous systems. The different phenotypes of Phox2 knockout mutants, together with their asynchronous onset of expression, prompted us to generate two knock-in mutant mice, in which Phox2a is replaced by the Phox2b coding sequence, and vice versa. Our results indicate that Phox2a and Phox2b are not functionally equivalent, as only Phox2b can fulfill the role of Phox2a in the structures that depend on both genes. Furthermore, we demonstrate unique roles of Phox2 genes in the differentiation of specific motor neurons. Whereas the oculomotor and the trochlear neurons require Phox2a for their proper development, the migration of the facial branchiomotor neurons depends on Phox2b. Therefore, our analysis strongly indicates that biochemical differences between the proteins rather than temporal regulation of their expression account for the specific function of each paralogue. copyright 2005 European Molecular Biology Organization | All Rights Reserved.

Cordell, R. L., J. K. MacDonald, et al. (1997). "Illnesses and absence due to illness among children attending child care facilities in Seattle-King County, Washington." PEDIATRICS 100(5): 850-5.

OBJECTIVES: Although much of the economic impact of child care-associated illness in the United States is due to parents' time lost from work, there are no data on the incidence of absence due to illness among children in various types of out-of-home child care settings in the United States. The goals of this study were to compare the incidence of illness and absence due to illness among children attending child care homes (CCHs) and child care centers (CCCs). METHODS: From July 1992 through June 1993, child care providers from 91 CCHs and 41 CCCs in Seattle-King County, Washington, provided information on absenteeism and illness for 96 792 child-weeks of observation. RESULTS: The age-adjusted incidence of provider-reported illness episodes among children in CCHs (10.4 episodes per 100 child-weeks) was greater than that among children in CCCs (6.7 episodes per 100 child-weeks). The incidence density ratio of illness among children <1 year of age in comparison to those >/=5 years of age in CCCs (4.5) was greater than that among similar groups in CCHs (2.3). The age-adjusted incidence of absence due to illness among children in CCHs (5.1 days per 100 child-weeks) was less than that among children in CCCs (8.9 days per 100 child-weeks). CONCLUSIONS: Results comparing the incidence of illness between children in various types of child care settings may be influenced by information sources. The incidence of illness among children in CCHs may be greater than that among children in CCCs. The increased incidence of absence due to illness among children in CCCs compared with that among children in CCHs probably reflects differences in exclusion and attendance policies and practices between these two types of settings.

Cornwell, A. C., M. A. Pollack, et al. (1981). "Sleep apnea studies in an infant with congenital primary hypoventilation ("Ondine's curse")." INTERNATIONAL JOURNAL OF NEUROSCIENCE 13(2-3): 155-62.

Recurrent apneic episodes were typically associated with sleep, not wakefulness, in an infant with congenital primary hypoventilation ("Ondine's Curse"). Quiet sleep (SLQ) was shown to constitute a higher risk condition than active sleep (SLA) at the ages she was recorded polygraphically (2-4 months old). This infant's respiratory disorder was complicated by recurrent pneumonia, seizures and deficient growth which resulted in death at the age of eight months. Necropsy revealed bronchopulmonary dysplastic fibrosis and cor pulmonale. Neuropathologic examination failed to reveal pathologic changes in the brainstem.

Corpening, J. C., V. A. Cantrell, et al. (2008). "A Histone2BCerulean BAC transgene identifies differential expression of Phox2b in migrating enteric neural crest derivatives and enteric glia." DEVELOPMENTAL DYNAMICS 237(4): 1119-1132.

The mammalian enteric nervous system (ENS) derives from migratory enteric neural crest-derived cells (ENCC) that express the transcription factor Phox2b. Studies of these enteric progenitors have typically relied on immunohistochemical (IHC) detection. To circumvent complicating factors of IHC, we have generated a mouse BAC transgenic line that drives a Histone2BCerulean (H2BCFP) reporter from Phox2b regulatory regions. This construct does not alter the endogenous Phox2b locus and enables studies of normal neural crest (NC) derivatives. The Phox2b-H2BCFP transgene expresses the H2BCFP reporter in patterns that recapitulate expression of endogenous Phox2b. Our studies reveal Phox2b expression in mature enteric glia at levels below that of enteric neurons. Moreover, we also observe differential expression of the transgene reporter within the leading ENCC that traverse the gut. Our findings indicate that the wavefront of migrating enteric progenitors is not homogeneous, and suggest these cells may be fate-specified before expression of mature lineage markers appears. copyright 2008 Wiley-Liss, Inc.

Costa Orvay, J. A. and M. Pons Odena (2005). "[Ondine syndrome: diagnosis and management]." Anales de Pediatria 63(5): 426-32.

Ondine's syndrome is a congenital central hypoventilation syndrome due to a disorder in the autonomic control of breathing in the absence of any primary disease that would explain it. Although the incidence of this entity is low, it may be underestimated due to the variable clinical expression of this syndrome, depending on its severity. Early diagnosis is of great importance to provide appropriate management to prevent the acute and chronic asphyxia that determines the long-term prognosis of this disease. This review aims to present practical management guidelines to provide doctors unfamiliar with this syndrome with basic knowledge of the diagnosis, treatment and follow-up of these patients.

Costa Orvay, J. A., M. Pons Odena, et al. (2005). "Noninvasive ventilation in infants with Ondine's syndrome: A real indication?. [Spanish]." Anales de Pediatria 63(5): 441-443.

Ondine's syndrome is a congenital central hypoventilation syndrome due to a disorder in the autonomic control of breathing in the absence of any primary disease that would explain it. Noninvasive ventilation (NIV) has been reported to be effective in the management of these patients, thus avoiding the need for tracheotomy for prolonged mechanical ventilation. We describe our experience of NIV in infants with Ondine's syndrome. Two infants with Ondine's syndrome were transferred to our center for management and adjustment of therapy. On admission NIV (BiPAP VISION) was started with nasal interphase in S/T (spontaneous/timed) mode, which failed to provide suitable ventilation (PCO ₂ > 70 mmHg). Finally, tracheotomy for continuous mechanical ventilation was performed. Although NIV has been reported to be successful in some patients with Ondine's syndrome, its application in patients younger than 5 years does not seem to be the general norm of treatment.

Crameri, R. M., A. R. Weston, et al. (2000). "Effects of electrical stimulation leg training during the acute phase of spinal cord injury: a pilot study." European journal of applied physiology(4 -5): 409-15.

Four individuals with a spinal cord injury underwent 16 weeks of isometric electrical stimulation training to both legs for 60 min, five times per week during the first 5 months after injury, while two SCI individuals remained untrained. A baseline biopsy sample of the vastus lateralis muscle was obtained within 1 month of injury, and another biopsy sample was taken after a further 16 weeks. The untrained, paralyzed skeletal muscle displayed a reduction in (1) type I fibers (from 50% to 9%), (2) myosin heavy chain (MHC) I (from 27% to 6%), and (3) fiber cross-sectional area of type I, type IIA and type IIX fibers (-62%, -68%, and -55%, respectively) when compared to the baseline sample of muscle taken within 1 month of injury. In contrast, the trained group showed smaller alterations in type I fibers (from 49% to 40%) and MHC I composition (from 39% to 25%), while fiber cross-sectional area was similar to baseline levels for type I, type IIA and type IIX fibers (-3%, -8%, and -4%, respectively). In conclusion, electrical stimulation training can largely prevent the adverse effects of a spinal cord injury upon paralyzed human skeletal muscle if applied soon after the injury.

Croaker, G. D., E. Shi, et al. (1998). "Congenital central hypoventilation syndrome and Hirschsprung's disease." ARCHIVES OF DISEASE IN CHILDHOOD 78(4): 316-22.

Five cases of the Hirschsprung's disease-congenital central hypoventilation syndrome (CCHS) association are presented and 41 other published cases reviewed. These children have a distinct pattern of associated features, an equal sex incidence, and a characteristic spectrum of disease severity which suggests that the condition is genetically distinct from other cases of Hirschsprung's disease. While approximately 1.5% of Hirschsprung's disease patients, and 10% of those with total colonic aganglionosis, will have CCHS, up to 50% of CCHS patients will have Hirschsprung's disease. Approximately 20% of CCHS/Hirschsprung patients will also have neuroblastoma or ganglioneuroma, usually multiple. Abnormalities of the eye and autonomic nervous system are also common. The ventilatory abnormality is usually evident on the first day of life. The aganglionosis is also severe, with more than half (59%) of the patients having aganglionosis extending into the small bowel. [References: 42]