Literature search from ms 29/4/2010

Rosenberg, H. S. and R. L. Williams (1975). "Proceedings: Ondine's curse: a pathogenetic mechanism in pulmonary hypertension." ARCHIVES OF DISEASE IN CHILDHOOD 50(8): 667.

Roshkow, J. E., J. O. Haller, et al. (1988). "Hirschsprung's disease, Ondine's curse, and neuroblastoma--manifestations of neurocristopathy." PEDIATRIC RADIOLOGY 19(1): 45-9.

The term neurocristopathy has been applied to the association of Hirschsprung's disease, Ondine's curse (Congenital Hypoventilation Syndrome) and congenital neuroblastoma. Eight newborns with Hirschsprung's disease and Ondine's curse are discussed. Five of these have been seen by the authors. The remaining three patients are reported in the literature. In six of the infants (5 of ours, 1 from the literature) total colonic aganglionosis was found. Congenital neuroblastoma was present in two of the infants. In infants presenting with Hirschsprung's disease (especially of the long segment type) and breathing difficulties, the presence of a neurocristopathy should be considered.
Ross, N. (2002). "Community belonging and health." HEALTH REPORTS 13(3): 33-9.

OBJECTIVES: This article explores the relationship between sense of community belonging and self-perceived health. DATA SOURCE: The data are from the first half of cycle 1.1 of the Canadian Community Health Survey (CCHS), collected from September 2000 through February 2001. ANALYTICAL TECHNIQUES: Descriptive information relating socio-demographic variables to sense of community belonging is presented. Multiple logistic regression is used to study the association between sense of community belonging and self-perceived health, while controlling for socio-demographic conditions and other health-related factors. MAIN RESULTS: Just over half (56%) of Canadians report a strong or somewhat strong sense of belonging to their local community. Community belonging is associated with self-perceived health, even when controlling for socio-economic status, the presence of chronic disease, health behaviours, stress and other factors.

Rotermann, M. (2009). "Evaluation of the coverage of linked Canadian Community Health Survey and hospital inpatient records." HEALTH REPORTS 20(1): 45-51.

BACKGROUND: Evaluation of the coverage that results from linking routinely collected administrative hospital data with survey data is an important preliminary to undertaking analyses based on the linked file. DATA AND METHODS: To evaluate the coverage of the linkage between data from cycle 1.1 of the Canadian Community Health Survey (CCHS) and inpatient hospital data (Health Person-Oriented Information or HPOI), the number of people admitted to hospital according to HPOI was compared with the weighted estimate for CCHS respondents who were successfully linked to HPOI. Differences between HPOI and the linked and weighted CCHS estimate indicated linkage failure and/or undercoverage. RESULTS: According to HPOI, from September 2000 through November 2001, 1,572,343 people (outside Quebec) aged 12 or older were hospitalized. Weighted estimates from the linked CCHS, adjusted for agreement to link and plausible health number, were 7.7% lower. Coverage rates were similar for males and females. Provincial rates did not differ from those for the rest of Canada, although differences were apparent for the territories. Coverage rates were significantly lower among people aged 75 or older than among those aged 12 to 74.

Rotermann, M. and A. McKay (2009). "Condom use at last sexual intercourse among unmarried, not living common-law 20- to 34-year-old Canadian young adults." Canadian Journal of Human Sexuality 18(3): 75-87.

This study utilized data from the Canadian Community Health Surveys (CCHS) to examine condom use among unmarried, not living common-law (UMNCL) Canadians aged 20-34 years. Males (59.9%) were more likely than females (49.9%) to report using a condom at last sexual intercourse. Condom use at last intercourse was more likely among younger respondents aged 20-24 (63.7% males; 53.8% females) than those aged 25-29 (56.0% males; 47.1 females) or 30-34 (54.7% males; 42.2% females). Over a third (35.8%) of those who reported having more than one intercourse partner in the previous 12 months and among those who reported three or four or more partners about 30% of males and nearly 40% of females reported not using a condom at last intercourse. Among all males, the percentage that used a condom at last intercourse was significantly greater than the national average in Prince Edward Island, Ontario, and the territories, and significantly lower in Quebec. Among females, condom use was significantly higher in Ontario and significantly lower in New Brunswick and Quebec. Multivariate analysis indicated that UMNCL females aged 20-34 who lived in rural areas were less likely than their urban counterparts to have used a condom at last intercourse. Those who reported having first intercourse at age 13 or younger were significantly less likely to report using a condom at last intercourse than those whose first intercourse occurred at age 14 or older. Overall, the findings indicate that large numbers of single young adult Canadians are at elevated risk for sexually transmitted infection (STI) including human immunodeficiency virus (HIV).

Rouse, S. T., S. E. Hamilton, et al. (2000). "Muscarinic-induced modulation of potassium conductances is unchanged in mouse hippocampal pyramidal cells that lack functional M₁ receptors." NEUROSCIENCE LETTERS 278(1-2): 61-64.

Activation of muscarinic acetylcholine (ACh) receptors (mAChRs) increases excitability of pyramidal cells by inhibiting several K⁺ conductances, including the after-hyperpolarization current (I(ahp)), the M- current (I(m)), and a leak K⁺ conductance (I(leak)). Based on pharmacological evidence and the abundant localization of M₁ receptors in pyramidal cells, it has been assumed that the M₁ receptor is responsible for mediating these effects. However, given the poor selectivity of the pharmacological agents used to characterize these mAChR responses, rigorous characterization of the receptor subtypes that mediate these actions has not been possible. Surprisingly, patch clamp recording from CA1 pyramidal cells in M₁ knockout mice revealed no significant difference in the degree of inhibition of I(ahp), I(m), or I(leak) by the mAChR agonist, carbachol (CCh), as compared with wildtype controls. In addition, the M₁-toxin was not able to block CCh's inhibition of the I(ahp), I(m), or I(leak). These data demonstrate that the M₁ receptor is not involved in increasing CA1 pyramidal cell excitability by mediating ACh effects on these K⁺ conductances.

Ruof, H., J. Hammer, et al. (2008). "Neuropsychological, behavioral, and adaptive functioning of Swiss children with congenital central hypoventilation syndrome." JOURNAL OF CHILD NEUROLOGY 23(11): 1254-9.

This study collected data about developmental problems in a cohort of children with congenital central hypoventilation syndrome. In 2003, in Switzerland, 11 children with this disease were registered. Nine of them gave their informed consent to participate in the study and were examined. Clinical assessments were conducted, including examinations of neuropsychological, behavioral, and adaptive functions using Kaufman-Assessment Battery for Children, Child Behavior Checklist, and Vineland Adaptive Behavior Scales. The mean age (+/- standard deviation) was 7.5 +/- 2.5 years. The cognitive tests showed problems in working memory functions with a near-to-normal full-range intelligence quotient (87.4 +/- 23.3). The children showed normal values (t-values < 67) on problem scales of behavior, although 5 of the 9 children showed elevated values on the attention and on the social interaction problem scales. Adaptive function problems were identified in communication and daily living skills.

Ruth, V., E. Pesonen, et al. (1983). "Congenital central hypoventilation syndrome treated with diaphragm pacing." Acta Paediatrica Scandinavica 72(2): 295-7.

Congenital central hypoventilation syndrome was diagnosed in an infant who since birth had shallow respiration and CO2 retention during sleep, absent ventilatory response to hypercarbia, and no underlying disease or trauma to account for the symptoms. Diaphragm pacing was started at the age of 8 1/2 months and has been successfully carried out at home, guided by end-tidal CO2 monitoring. After 22 months of home treatment, at the age of two years 9 months, linear growth and psychomotor development are progressing normally, while previous symptoms of cor pulmonale have not progressed.

Rutishauser, M. and A. Feldges (1977). "[Familial primary chronic type ventilation]." Schweizerische Medizinische Wochenschrift Journal Suisse de Medecine. 107(21): 722-6.

Primary hypoventilation (Ondine's curse), due to diminished sensitivity ofthe respiratory center to CO2, is very rare. Up to now only a few patients have been observed, ten of whom were children. Familial occurrence was reported in 1976 for the first time. The cases are described of a 10-year-old girl and her mother who both showed the typical clinical and pathophysiological symptoms. Our own observation also suggests that this unknown defect of respiratory regulation could be inherited. Sedation, anesthesia, or severe respiratory tract infection are life-threatening situations in these patients. Pulmonary hypertension and right heart failure are possible long-term complications.

Rychlik, J. L., M. Hsieh, et al. (2005). "Phox2 and dHAND transcription factors select shared and unique target genes in the noradrenergic cell type." JOURNAL OF MOLECULAR NEUROSCIENCE 27(3): 281-92.

The noradrenergic cell type is characterized by the expression of proteins involved in the biosynthesis, transport, and secretion of noradrenaline and is dependent on the sequential and combinatorial expression of numerous transcription factors, including Phox2a, Phox2b, dHAND, GATA2, GATA3, and MASH1. Phox2a and Phox2b transactivate the promoter of the gene encoding the noradrenergic biosynthetic enzyme, dopamine beta-hydroxylase (DBH), and dHAND potentiates the activity of Phox2a. In this study, we use chromatin immunoprecipitation assays to identify target genes of the Phox2 proteins and dHAND. All three proteins are bound to the DBH and PHOX2B promoter regions in SH-SY5Y neuroblastoma cells. The interaction between Phox2a and dHAND is analyzed by fluorescent anisotropy, which demonstrates that dHAND causes an eightfold increase in the affinity of Phox2a for its recognition sites on the DBH promoter region. The Phox2 proteins are not found on the genes encoding other noradrenergic enzymatic or transport proteins but are reciprocally bound to each other's promoters in SH-SY5Y cells. Together with Phox2a and Phox2b, dHAND is bound to the PHOX2B promoter and is also associated with the GATA2 and eHAND genes in the absence of the Phox2 proteins. These results demonstrate the direct interactions of the Phox2 and dHAND transcription factors within a noradrenergic cell type. The Phox2 proteins were found to share all target genes, whereas dHAND binds to genes independently of Phox2a.

Sadler, M., C. M. Wiles, et al. (2002). "Ondine's curse in a woman with Leber's hereditary optic neuropathy." Journal of Neurology, Neurosurgery & Psychiatry 73(3): 347-8.

Saggiorato, E., I. Rapa, et al. (2007). "Absence of RET gene point mutations in sporadic thyroid C-cell hyperplasia." Journal of Molecular Diagnostics 9(2): 214-9.

Progression from C-cell hyperplasia (CCH) to medullary thyroid carcinoma (MTC) has been demonstrated to date only in familial forms, whereas in nonfamilial MTC, such hypothesis is suggested by the rare concurrence of both lesions, although no epidemiological and molecular data are available to prove or disprove this event. Therefore, the clinical management of patients with sporadic CCH is controversial. To evaluate the malignant potential of sporadic CCHs, pure laser-microdissected C-cell populations of 24 CCH cases, either reactive or associated with nonfamilial MTC, were analyzed for MTC-associated protein neural cell adhesion molecule expression and RET point mutations in exons 10, 11, 15, and 16, by using immunohistochemistry and polymerase chain reaction-single-strand conformation polymorphism/heteroduplex electrophoresis/direct sequencing, respectively. No RET mutations were found in any of the 24 CCH cases, whereas M918T mutation was detected in three concomitant MTCs. Neural cell adhesion molecule was immunoreactive in the majority of CCH associated with MTC even in the absence of morphological atypia, but not in reactive forms. The absence of RET alterations in all cases of CCH examined supports the hypothesis that the development of MTC is independent of pre-existing CCH in the nonfamilial setting; thus, sporadic CCH should not be considered a risk factor for nonfamilial MTC.
Sahai, V. S., M. S. Ward, et al. (2005). "Quantifying the iceberg effect for injury: using comprehensive community health data.[Erratum appears in Can J Public Health. 2006 Jan-Feb;97(1):34]." Canadian Journal of Public Health Revue Canadienne de Sante Publique. 96(5): 328-32.

BACKGROUND: Injury is the leading cause of preventable morbidity and mortality in Canada. The "ice berg" effect in injuries was proposed to address the injury statistics that are often poorly documented. The aim of this investigation was to quantify the severity and magnitude of iceberg effect in Ontario, Canada. METHODS: Data from Vital Statistics (1999, mortality), Canadian Institute for Health Information (2001, hospitalizations), Census (2001, demographic information), National Ambulatory Care Reporting System (2001, emergency department visits), and the Canadian Community Health Survey (2000/01, other injuries) were used to construct the Ontario injury iceberg for ages 12 years and older. RESULTS: There were 79,577 fatalities in Ontario in 1999; 2,645 were attributable to injuries (crude rate: 2.3 per 10,000). Of the 913,540 hospitalizations (2001), 67,301 were caused by injuries. There were 3,520,253 emergency department (ED) visits (2001) and 959,278 were attributable to injuries. For injuries treated elsewhere, the most common treatment site was the physician's office (23.3%). The most common cause of injuries (CCHS) was falls (37.4%) and exertion/movement (20.5%). There were 1,928,000 injuries causing functional impairment (one injury to five individuals in the population). INTERPRETATION The high ratio of injury-related ED visits to deaths illustrated the high volume of injuries that present to the ED. The ratio of injuries resulting in functional impairment to the population demonstrates.that such injuries can be problematic, even if not resulting in hospitalization. Constructing the injury iceberg using valid data should assist researchers and decision-makers in priority setting.

Saito, Y., M. Ito, et al. (1999). "Changes of neurotransmitters in the brainstem of patients with respiratory-pattern disorders during childhood." NEUROPEDIATRICS 30(3): 133-40.

We examined neuropathologically and immunohistochemically the respiratory centers in the brainstem of two patients with Joubert syndrome (JS), three patients with congenital central hypoventilation syndrome (CCHS) and a patient with apneustic breathing (prolonged inspiratory pause) due to unknown etiology. Immunoreactivity (IR) of tryptophan hydroxylase (TPH) was decreased in the dorsal raphe nuclei of two patients with JS compared with age-matched controls, as well as in two patients with Dandy-Walker malformation. The two JS patients showed vermian defect and elongated cerebellar peduncles, and peculiar vascularities in the midline of the whole brainstem were also noted in one of these patients. These findings, as a whole, confirm that the midline structures of brainstem are disordered both structurally and functionally in JS, conceivably resulting in respiratory patterns and psychomotor deficits. IR of serotonin 1A receptor showed no significant changes in the medulla oblongata of these patients, however. In the parabrachial complex, IR of substance P was increased in two patients with CCHS, and one with apneustic breathing. IR of tyrosine hydroxylase was also increased in the latter. The brainstem of these patients showed reactive astrogliosis. These findings suggest preceding hypoxic episodes as well as an increased activity in the parabrachial complex which plays an important role in conducting the driving force to the medullary respiratory neurons from ascending sensory pathways.

Sakai, T., A. Wakizaka, et al. (1998). "Point mutation in exon 12 of the receptor tyrosine kinase proto-oncogene RET in Ondine-Hirschsprung syndrome." PEDIATRICS 101(5): 924-6.

A 5-year-old girl with congenital central hypoventilation syndrome associated with Hirschsprung's disease (Ondine-Hirschsprung syndrome) representing a missense mutation in exon 12 of the receptor tyrosine kinase (RET) proto-oncogene is reported. Using a direct sequencing technique, genomic DNA obtained from the patient's peripheral leukocytes was analyzed for its nucleotide sequences in all 20 exons of the RET proto-oncogene, seven regions of the 1st to the 7th exon of the endothelin-B receptor gene and endothelin 3 gene, including sequences corresponding to proteolytic cleavage sites. The analysis revealed that adenine at the 2116th base in the 12th exon in the RET proto-oncogene was substituted by guanine, supposedly resulting in a mutation of Thr 706 to Ala. No other mutational change was observed in the gene examined in this case. Mutation analysis has not been described previously on the gene in this disease complex. Mutation in this case might impair the maturation of the tyrosine kinase protein and subsequently cause neurocristopathy supposedly originating from the neural crest.

Sakai, T., A. Wakizaka, et al. (2001). "Congenital central hypoventilation syndrome associated with Hirschsprung's disease: mutation analysis of the RET and endothelin-signaling pathways." EUROPEAN JOURNAL OF PEDIATRIC SURGERY 11(5): 335-7.

Three cases of congenital central hypoventilation syndrome (CCHS) associated with Hirschsprung's disease (HSCR) were examined with respect to their genomic DNA on the coding region of the receptor tyrosine kinase (RET) and the endothelin-B receptor (EDNRB). No causative mutations for the disease were detected, but one polymorphism was observed in exon 11 of the RET proto-oncogene. In cases with CCHS, HSCR occurs with a high incidence, and this disease complex has been described as neurocristopathy due to aberrations in neural crest cell proliferation, differentiation or migration during the early fetal period. Both the RET and EDNRB may play important roles in the modulation of neurocristopathies; however, further systemic studies in a large population of patients and control subjects are necessary for elucidating the pathogenesis of this disorder.

Sakakihara, Y., T. Yamanaka, et al. (1996). "Long-term ventilator-assisted children in Japan: a national survey." ACTA PAEDIATRICA JAPONICA 38(2): 137-42.

Owing to improved technology and care for patients who need mechanical ventilation, the quality of life as well as the prognosis for long-term ventilator-assisted patients has improved significantly in recent years. However, the increased number of these patients has raised economic, ethical and medical problems. In order to assess the magnitude of these problems, we conducted the first nationwide survey on the status of long-term ventilator-assisted children in Japan. Questionnaires were mailed to 2524 pediatric departments at hospitals in Japan with more than 100 beds. At the time of the survey, 282 hospitals had 567 patients who had been ventilated for more than a month. Among these patients, 434 were younger than 20 years and had been ventilated for more than 3 months. The most common basic disorders were: various myopathies (n = 65), hypoxic-ischemic encephalopathy (n = 60), spinal muscular atrophy type 1 (Werdnig-Hoffmann disease, n = 55), chronic lung disorders of prematurity (n = 21), Ondine's curse (n = 22), drowning (n = 17) and congenital heart diseases (n = 16). Of these 434 patients, only 61 were ventilated at home. Although home care was considered suitable for chronic ventilator patients by many pediatricians who responded to the survey, its realization has been hampered by the lack of a system and regulations to support it. The fact that many pediatricians in Japan have actively prolonged the life of Werdnig-Hoffmann patients, from whom aggressive life saving measures have been withheld in most Western countries, has raised ethical as well as medical issues.

Samad, O. A., M. J. Geisen, et al. (2004). "Integration of anteroposterior and dorsoventral regulation of Phox2b transcription in cranial motoneuron progenitors by homeodomain proteins." DEVELOPMENT 131(16): 4071-4083.

Little is known about the molecular mechanisms that integrate anteroposterior (AP) and dorsoventral (DV) positional information in neural progenitors that specify distinct neuronal types within the vertebrate neural tube. We have previously shown that in ventral rhombomere (r)4 of Hoxb1 and Hoxb2 mutant mouse embryos, Phox2b expression is not properly maintained in the visceral motoneuron progenitor domain (pMNv), resulting in a switch to serotonergic fate. Here, we show that Phox2b is a direct target of Hoxb1 and Hoxb2. We found a highly conserved Phox2b proximal enhancer that mediates rhombomere-restricted expression and contains separate Pbx-Hox (PH) and Prep/Meis (P/M) binding sites. We further show that both the PH and P/M sites are essential for Hox-Pbx-Prep ternary complex formation and regulation of the Phox2b enhancer activity in ventral r4. Moreover, the DV factor Nkx2.2 enhances Hox-mediated transactivation via a derepression mechanism. Finally, we show that induction of ectopic Phox2b-expressing visceral motoneurons in the chick hindbrain requires the combined activities of Hox and Nkx2 homeodomain proteins. This study takes an important first step to understand how activators and repressors, induced along the AP and DV axes in response to signaling pathways, interact to regulate specific target gene promoters, leading to neuronal fate specification in the appropriate developmental context.

Samalea Perez, F., J. M. Garcia-Cubillana De La Cruz, et al. (1990). "Congenital central hypoventilation syndrome. Report of a case. [Spanish]." ANALES ESPANOLES DE PEDIATRIA 33(3): 283-285.

Samdani, P. G., V. Samdani, et al. (2007). "Congenital central hypoventilation syndrome." INDIAN JOURNAL OF PEDIATRICS 74(10): 953-5.

Congenital Central Hypoventilation Syndrome is a rare disorder of autonomic dysfunction where the body "forgets to breathe". The primitive responses to hypoxia and hypercapnia are sluggish to absent. Since, it was first described in 1970, not much has been discovered about its etiology and pathophysiology except its relationship with PHOX2B gene mutations and associations with disorders of neural crest origin like Hirschprung's Disease. Here, we describe such a case where the diagnosis of anything other than CCHS seems unlikely.
Sanmartin, C. and J. Gilmore (2008). "Diabetes-prevalence and care practices." HEALTH REPORTS 19(3): 59-63.

In 2005, an estimated 1.3 million Canadians aged 12 or older (4.9% of the population of these ages) reported to the Canadian Community Health Survey (CCHS) that they had been diagnosed with diabetes. The Canadian Diabetes Association has published Clinical Practice Guidelines for the Prevention and Management of Diabetes in Canada,which recommend the type of care that should be provided to individuals with diabetes. According to the CCHS, and based on data from six of the provinces/territories (Newfoundland and Labrador, Prince Edward Island, New Brunswick, Ontario, Manitoba and Yukon Territory), almost three-quarters of diabetic respondents aged 18 or older reported having had their hemoglobin A1C checked by a health care professional at least once in the year before the survey, and those who had had the test were close to meeting the recommended frequency of every three months. The majority of diabetic respondents were also meeting the recommendation for eye examinations, but only half had the recommended annual foot examinations. Half the diabetic population reported that they or a family member had checked their glucose level every day.