Literature search from ms 29/4/2010

Kassam, A. and S. B. Patten (2006). "Major depression, fibromyalgia and labour force participation: a population-based cross-sectional study." BMC Musculoskeletal Disorders 7: 4.

BACKGROUND: Previous studies have documented an elevated frequency of depressive symptoms and disorders in fibromyalgia, but have not examined the association between this comorbidity and occupational status. The purpose of this study was to describe these epidemiological associations using a national probability sample. METHODS: Data from iteration 1.1 of the Canadian Community Health Survey (CCHS) were used. The CCHS 1.1 was a large-scale national general health survey. The prevalence of major depression in subjects reporting that they had been diagnosed with fibromyalgia by a health professional was estimated, and then stratified by demographic variables. Logistic regression models predicting labour force participation were also examined. RESULTS: The annual prevalence of major depression was three times higher in subjects with fibromyalgia: 22.2% (95% CI 19.4 - 24.9), than in those without this condition: 7.2% (95% CI 7.0 - 7.4). The association persisted despite stratification for demographic variables. Logistic regression models predicting labour force participation indicated that both conditions had an independent (negative) effect on labour force participation. CONCLUSION: Fibromyalgia and major depression commonly co-occur and may be related to each other at a pathophysiological level. However, each syndrome is independently and negatively associated with labour force participation. A strength of this study is that it was conducted in a large probability sample from the general population. The main limitations are its cross-sectional nature, and its reliance on self-reported diagnoses of fibromyalgia.

Katz, E. S., S. McGrath, et al. (2000). "Late-onset central hypoventilation with hypothalamic dysfunction: a distinct clinical syndrome." PEDIATRIC PULMONOLOGY 29(1): 62-8.

Idiopathic central hypoventilation has occasionally been reported in previously well children after infancy. The relationship between this late-onset central hypoventilation syndrome (LO-CHS) and congenital central hypoventilation syndrome (CCHS) has not been established. Both CCHS and LO-CHS have been associated with neural crest tumors, such as ganglioneuroblastoma and ganglioneuroma, and they generally occur in the presence of a histologically normal central nervous system. At least 10 case reports of idiopathic LO-CHS featured evidence of hypothalamic dysfunction (HD), including hyperphagia, hypersomnolence, thermal dysregulation, emotional lability, and endocrinopathies. We report on a case of LO-CHS/HD successfully treated by nasal intermittent positive pressure ventilation (NIPPV). Despite the commonalties with CCHS, we propose that LO-CHS/HD is a distinct clinical syndrome. In addition to the markedly different age at presentation, features of hypothalamic dysfunction are not seen in CCHS. Review of the literature was undertaken to further clarify the full spectrum of the disease. Copyright 2000 Wiley-Liss, Inc. [References: 33]

Katzan, I. L., M. D. Hammer, et al. (2003). "Quality improvement and tissue-type plasminogen activator for acute ischemic stroke: a Cleveland update." STROKE 34(3): 799-800.

BACKGROUND AND PURPOSE: A systematic audit of intravenous tissue-type plasminogen activator (tPA) use and stroke outcomes in Cleveland, Ohio, during 1997-1998 demonstrated higher rates of symptomatic intracranial hemorrhage (ICH) than reported in the National Institute of Neurological Disorders and Stroke (NINDS) trial. We now report updated results of intravenous tPA use in the Cleveland Clinic Health System (CCHS). METHODS: A stroke quality improvement program was initiated in the 9-hospital CCHS in 1999. A retrospective chart review for all stroke patients with primary International Classification of Diseases, Ninth Revision, Clinical Modification diagnosis codes 434 and 436 admitted to the 9 hospitals from June 1999 to June 2000 was used to determine outcomes of patients treated with intravenous tPA. RESULTS: Intravenous tPA was given to 18.8% of patients arriving within 3 hours of symptom onset. Protocol deviations occurred in 19.1% of patients given intravenous tPA. The symptomatic ICH rate was 6.4%. CONCLUSIONS: Since 1997, intravenous tPA use has increased, while the rates of symptomatic ICH and protocol deviations have decreased in the CCHS. The CCHS symptomatic ICH rate is now similar to that reported in the NINDS trial. These improvements occurred after initiation of a stroke quality improvement program.

Katzmarzyk, P. T. (2008). "Obesity and physical activity among Aboriginal Canadians." Obesity 16(1): 184-90.

OBJECTIVE: To investigate ethnic differences in obesity and physical activity among Aboriginal and non-Aboriginal Canadians. METHODS AND PROCEDURES: The sample included 24,279 Canadians (1,176 Aboriginals, 23,103 non-Aboriginals) aged 2-64 years from the 2004 Canadian Community Health Survey (CCHS). Adult participants were classified as underweight/normal weight, overweight (BMI 25-29.9 kg/m(2)) or obese (BMI > or = 30 kg/m(2)). Children and youth 2-17 years of age were classified as normal weight, overweight or obese based on the International Obesity Task Force criteria. Leisure-time physical activity levels over the previous 3 months were obtained by questionnaire in those aged 12-64 years. RESULTS: The prevalence of obesity in adults was 22.9% (men: 22.9%; women: 22.9%), and the prevalence was higher among Aboriginals (37.8%) compared to non-Aboriginals (22.6%). The prevalence of obesity in children and youth was 8.2% (boys: 9.2%; girls: 7.2%), and the prevalence was higher among Aboriginals (15.8%) compared to non-Aboriginals (8.0%). In both youth and adults, the odds for obesity were higher among Aboriginals (youth: OR = 2.3 (95% CI: 1.4-3.8); adults: OR = 2.4 (95% CI: 1.6-3.6)) after adjustment for a number of covariates. There were no ethnic differences in the prevalence of physical inactivity; however, physical inactivity was a predictor of obesity in both the Aboriginal and non-Aboriginal samples. DISCUSSION: The prevalence of obesity is higher among Canadian Aboriginals compared to the rest of the population. Further research is required to better delineate the determinants of obesity and the associated health consequences in this population.

Kawawaki, H., K. Tomiwa, et al. (1998). "[Home mechanical ventilation with nasal intermittent positive pressure ventilation for a boy with congenital central hypoventilation syndrome]." No to Hattatsu [Brain & Development] 30(3): 250-4.

We report a 4-year-old boy with congenital central hypoventilation syndrome (CCHS) successfully treated with home mechanical ventilation with nasal intermittent positive pressure ventilation (NIPPV) during sleep hours. He had had frequent severe apneic attacks from the neonatal period. At 8 months, he was treated with positive pressure ventilation following a tracheostomy. At 4 year and 2 months, NIPPV was attempted because of recurrent respiratory tract infections and cor pulmonale. The tracheostomy was successfully abandoned 6 months later. Adequate ventilation has been maintained for more than 3 years without troubles. NIPPV is an effective and non-invasive treatment of CCHS that it significantly improves the quality of life during daytime.

Keelan, P. (1981). "Of Pickwick and Ondine." IRISH MEDICAL JOURNAL 74(11): 339-340.

The relevance and usage of the terms Pickwickian Syndrome and Ondine's Curse in clinical medicine are discussed with illustrative cases. The literature is reviewed.

Keens, T. G. (1997). "Exercise physiology in children with congenital central hypoventilation syndrome." PEDIATRIC PULMONOLOGY 23(2): 143-144.

Kerbl, R., H. Litscher, et al. (1996). "Congenital central hypoventilation syndrome (Ondine's curse syndrome) in two siblings: delayed diagnosis and successful noninvasive treatment." EUROPEAN JOURNAL OF PEDIATRICS 155(11): 977-80.

Congenital central hypoventilation syndrome (CCHS, Ondine's curse syndrome) is a rare respiratory disorder; less than 100 cases have been reported. Familiality of the disease has been discussed, but only few familial cases have been reported so far. In this report we describe the occurrence of CCHS in two male siblings. Diagnosis was established only at the age of 4 years in the first case, although the patient had disease related symptoms since early infancy. The second patient was one of dizygotic twins, he was diagnosed with CCHS at the age of 8 months. Up to that age only moderate desaturations had been observed. The other twin was unaffected by the disease. Both patients were successfully treated by nocturnal positive-pressure ventilation via a specially adapted face mask. They show satisfactory physical and neurologic development. CONCLUSION: Our cases support the assumption of familiality in CCHS although the mode of inheritance remains to be clarified. Polygraphic recordings including capnography should be performed in siblings of CCHS patients early in life in order to avoid secondary complications. Noninvasive treatment by ventilation via special face masks is feasible.
Khalifa, M. M., M. A. Flavin, et al. (1988). "Congenital central hypoventilation syndrome in monozygotic twins." JOURNAL OF PEDIATRICS 113(5): 853-5.

Khan, A., H. B. Sarnat, et al. (2008). "Congenital muscle fiber-type disproportion in a patient with congenital central hypoventilation syndrome due to PHOX2B mutations." JOURNAL OF CHILD NEUROLOGY 23(7): 829-31.

Increasing numbers of genetic origins are being reported for congenital muscle fiber-type disproportion. Most of these identified disorders are genetic myopathies. This is the first case report (to our knowledge) demonstrating congenital central hypoventilation syndrome due to PHOX2B mutations with congenital muscle fiber-type disproportion. The muscle histopathologic findings in the patient showed no changes of disuse atrophy and suggest that PHOX2B mutations may have an additional role in muscle development, contributing to respiratory failure in congenital central hypoventilation syndrome.
Khong, P., A. Lazzaro, et al. (2010). "Phrenic nerve stimulation: the Australian experience." Journal of Clinical Neuroscience 17(2): 205-8.

Phrenic nerve stimulation is a technique whereby a nerve stimulator provides electrical stimulation of the phrenic nerve to cause diaphragmatic contraction. The most common indications for this procedure are central alveolar hypoventilation and high quadriplegia. This paper reviews the available data on the 19 patients treated with phrenic nerve stimulation in Australia to date. Of the 19 patients, 14 required pacing due to quadriplegia, one had congenital central hypoventilation syndrome and one had brainstem encephalitis. Information was unavailable for the remaining three patients. Currently, 11 of the pacers are known to be actively implanted, with the total pacing duration ranging from 1 to 21 years (mean 13 years). Eight of the 19 patients had revision surgeries. Four of these were to replace the original I-107 system (which had a 3-5-year life expectancy) with the current I-110 system, which is expected to perform electrically for the patient's lifetime. Three patients had revisions due to mechanical failure. The remaining patients' notes were incomplete. These data suggest that phrenic nerve stimulation can be used instead of mechanical ventilators for long-term ongoing respiratory support. Copyright 2009 Elsevier Ltd. All rights reserved.

Kijima, K., A. Sasaki, et al. (2004). "Sudden infant death syndrome is not associated with the mutation of PHOX2B gene, a major causative gene of congenital central hypoventilation syndrome." TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE 203(1): 65-8.

Sudden infant death syndrome (SIDS) is a major cause of infant death, but its etiology is unknown. There are several independent risk factors for SIDS, and prone sleeping is a major risk factor. SIDS is probably based on a compromise in arousal response to breathing or blood pressure during sleep. Congenital central hypoventilation syndrome (CCHS or Ondine's curse) is a disorder characterized by an idiopathic failure of the autonomic control of breathing and has been regarded as one of the compromised conditions in SIDS. Recently, mutations of the PHOX2B gene have been detected in half to two-thirds of CCHS patients. We therefore analyzed the PHOX2B gene in 23 cases of SIDS and did not find any mutations, except for three polymorphic nucleotidic substitutions. The mutation of PHOX2B is thus not likely associated with SIDS.

Kim, A. H., P. M. Macey, et al. (2002). "Cardiac responses to pressor challenges in congenital central hypoventilation syndrome." Somnologie 6(3): 109-115.

Question of the Study Congenital central hypoventilation syndrome (CCHS) subjects exhibit diminished respiratory-related heart rate variation in addition to defining characteristics of CO₂ insensitivity and reduced ventilatory drive during sleep. Loss of cardiovascular and breathing coupling may diminish blood pressure influences on breathing; such influences may be determined by evaluating cardiorespiratory responses to different pressor challenges. Patients and Methods Ten children with CCHS and 10 age- and gender-matched controls were subjected to a forehead cold pressor challenge and to Valsalva maneuvers. Heart and respiratory rates and variability during 30-s baseline and 120-s challenge periods were assessed with scatterplot displays and by analysis of variance procedures. Results Cold pressor challenges enhanced breathing efforts and increased respiratory-related heart rate variation in controls but not in CCHS patients, while lower frequency heart rate variability increased in both controls and CCHS subjects. Heart rate variation resulting from voluntary expiratory efforts was present but slightly reduced in CCHS. Respiratory and cardiac rate trends differed in control and CCHS cases. Conclusions More-rapidly changing heart rate variation from spontaneous or reflexively-induced sources is diminished in CCHS but remains intact from voluntary expiratory efforts, as does slower variation. Loss of reflexive influences on breathing from blood pressure changes may attenuate a source of respiratory drive.

Kim, J., L. Lo, et al. (2003). "SOX10 maintains multipotency and inhibits neuronal differentiation of neural crest stem cells." NEURON 38(1): 17-31.

The mechanisms that establish and maintain the multipotency of stem cells are poorly understood. In neural crest stem cells (NCSCs), the HMG-box factor SOX10 preserves not only glial, but surprisingly, also neuronal potential from extinction by lineage commitment signals. The latter function is reflected in the requirement of SOX10 in vivo for induction of MASH1 and PHOX2B, two neurogenic transcription factors. Simultaneously, SOX10 inhibits or delays overt neuronal differentiation, both in vitro and in vivo. However, this activity requires a higher Sox10 gene dosage than does the maintenance of neurogenic potential. The opponent functions of SOX10 to maintain neural lineage potentials, while simultaneously serving to inhibit or delay neuronal differentiation, suggest that it functions in stem or progenitor cell maintenance, in addition to its established role in peripheral gliogenesis.

Kinane, T. B. and M. D. Burton (1997). "A genetic approach to the congenital central hypoventilation syndrome." PEDIATRIC PULMONOLOGY 23(2): 133-135.

Kinney, H. C. (2008). "Structural abnormalities in the brainstem and cerebellum in congenital central hypoventilation syndrome: commentary on the article by Kumar et al. on page 275." PEDIATRIC RESEARCH 64(3): 226-7.

Klein, D. F. (1993). "False suffocation alarms, spontaneous panics, and related conditions. An integrative hypothesis." ARCHIVES OF GENERAL PSYCHIATRY 50(4): 306-17.

A carbon dioxide hypersensitivity theory of panic has been posited. We hypothesize more broadly that a physiologic misinterpretation by a suffocation monitor misfires an evolved suffocation alarm system. This produces sudden respiratory distress followed swiftly by a brief hyperventilation, panic, and the urge to flee. Carbon dioxide hypersensitivity is seen as due to the deranged suffocation alarm monitor. If other indicators of potential suffocation provoke panic this theoretical extension is supported. We broadly pursue this theory by examining Ondine's curse as the physiologic and pharmacologic converse of panic disorder, splitting panic in terms of symptomatology and challenge studies, reevaluating the role of hyperventilation, and reinterpreting the contagiousness of sighing and yawning, as well as mass hysteria. Further, the phenomena of panic during relaxation and sleep, late luteal phase dysphoric disorder, pregnancy, childbirth, pulmonary disease, separation anxiety, and treatment are used to test and illuminate the suffocation false alarm theory. [References: 188]

Klein, D. F. (1994). "Testing the suffocation false alarm theory of panic disorder." Anxiety 1(1): 1-7.

The need for hypotheses concerning the nature of those functions that have been impaired in stereotyped psychiatric syndromes is emphasized. With regard to panic disorder, the key role of the spontaneous panic attack became apparent from several viewpoints. However, panics seem to be a type of misreleased fear, which guided the thinking concerning the nature of possible psychological or physiological malfunctions. We indicate that spontaneous panic cannot be fear, but must represent some other malfunction and suggest that the spontaneous panic is a suffocation false alarm. The development of this idea is outlined, and attempts to develop tests of this hypothesis are indicated. In particular, studies of children with congenital central hypoventilation syndrome, patients with Chronic Obstructive Pulmonary Disease, dyspnea, field measures of panic, pregnancy, childbirth and the postpartum period, as well as the premenstrual syndrome afford pointed opportunities, new information and potential tests of the theory. A recent challenge to the theory from acetazolamide infusion is discussed. Developing a possible antecedent for the pathologically depressed threshold for the suffocation alarm, in the form of a phasic endorphinergic deficiency, is presented. [References: 38]

Klein, D. F. (1996). "Panic disorder and agoraphobia: hypothesis hothouse." JOURNAL OF CLINICAL PSYCHIATRY 57 Suppl 6: 21-7.

Panic disorder and agoraphobia have been postulated to occur when (1) fear is elicited by some automatic mechanism that requires catastrophic cognition, (2) there is a flaw in the physiology of fear, with special reference to the noradrenergic system, or (3) a putative suffocation alarm mechanism sends out false alarms. The presence of a suffocation alarm system has been supported by studies of children who lack this protective mechanism because they suffer from congenital central hypoventilation syndrome. Antidepressants with serotonin activity seem to control panic disorder by down-regulating the suffocation alarm system. Serotonin selective reuptake inhibitors (SSRIs) are among the most effective drugs for panic disorder, emphasizing the role of serotonin in respiratory regulation. Dyspnea and hyperventilation are the cardinal signs of a panic attack. Because carbon monoxide (CO) does not cause panic, it may sabotage the suffocation alarm system by acting as an inhibitory neurotransmitter within the carotid body. [References: 38]

Kojo, M., T. Ogawa, et al. (1996). "Estimation of SIDS with measurement of cardio-respiratory contribution ratio through multivariate autoregressive modelling approach. [Japanese]." No to Hattatsu 28(5): 379-384.

We obtained the cardio-respiratory impulse response and noise contribution ratio to study the central respiratory control system in one case of Ondine's curse, one case of sleep apnea syndrome and 34 cases of preterm infants, using multivariate autoregressive analysis. In Ondine's curse, the noise contribution ratio decreased during sleep. In the sleep apnea syndrome, the noise contribution ratio before apnea and after apnea decreased. In the preterm infants, the noise contribution ratio increased with the conceptional age. From these results, we concluded that the central cardio-respiratory control system was disturbed in Ondine's curse, sleep apnea syndrome and preterm infants. The cardio-respiratory impulse response using a multiple autoregressive analysis was useful for prediction of sudden infant death syndrome.

Kolb, C., A. Eicken, et al. (2006). "Cardiac pacing in a patient with diaphragm pacing for congenital central hypoventilation syndrome (Ondine's curse)." JOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY 17(7): 789-91.

Mechanical ventilation support and diaphragm pacing has improved the prognosis of patients with idiopathic congenital central hypoventilation syndrome (CCHS; Ondine's curse). However, severe bradyarrhythmias may occur. This report is about a patient who was supplied with a bilateral diaphragm pacing system at early childhood. At the age of 17 years, he experienced multiple syncopes due to sinus nodal arrest, which was successfully treated by the implantation of a dual chamber pacemaker.

Kraus, J., J. G. Heckmann, et al. (1999). "Ondine's curse in association with diabetes insipidus following transient vertebrobasilar ischemia." Clinical Neurology & Neurosurgery 101(3): 196-8.

Ischemic lesions of the brainstem can lead to complex neurologic deficits. Failure of the automatic control of ventilation (Ondine's curse syndrome) is a possible but rare syndrome following localized brainstem dysfunction. We report on a 49-year-old man with intermittent bradycardia, cranial nerves' dysfunctions and a slight right-sided hemiparesis. An acute brainstem ischemia was diagnosed and treated immediately with high-dose heparin. Cerebral angiography revealed a proximal occlusion of the left vertebral artery but a normal right vertebral artery and a hyperplastic right posterior inferior cerebellar artery. Cranial Computed Tomography and MRI scan demonstrated multiple ischemic lesions in the posterior circulation. During a 4-week treatment course the patient underwent six episodes of acute severe hypoxia and hypercapnia requiring orotracheal intubation twice and manual ventilation by air mask over a few minutes for four times after a tracheostomy had been performed. Twice a short-term episode of hypothalamic Diabetes insipidus was observed following hypoventilation. We conclude that both Ondine's curse syndrome and diabetes insipidus were due to transient vertebrobasilar ischemia.

Krona, C., H. Caren, et al. (2008). "Analysis of neuroblastoma tumour progression; loss of PHOX2B on 4p13 and 17q gain are early events in neuroblastoma tumourigenesis." International Journal of Oncology 32(3): 575-83.

Neuroblastomas are biologically and clinically heterogeneous tumours that most often occur sporadically in children at median age of 2 years. The PHOX2B gene is implicated in the development of the autonomic nervous system and has been found to be infrequently mutated in sporadic neuroblastoma tumours and in some patients with hereditary neuroblastoma. We have screened a selected series of 36 paediatric tumours with presumed genetic predisposition, 34 of them neuroblastomas, for mutations in PHOX2B. A constitutional heterozygous missense mutation was found in a boy who developed bilateral adrenal tumours and stage 4 disease during infancy. The second allele of the PHOX2B locus was lost in the tumour DNA. Histopathological evaluation of the tumours suggested growth of two primary tumours, one with diploid DNA content and the other with tetraploid DNA content, i.e. a case of neuroblastoma stage 4M (multifocal tumour). However, array CGH (comparative genomic hybridization) data performed on both tumour masses from the patient instead supported a model where a common malignant precursor gave rise to the diploid tumour and subsequently the tetraploid tumour have progressed from the common precursor or by metastasis from the diploid tumour with additional genetic changes. The whole genome dosage analysis showed that the remaining alleles of PHOX2B had been lost in both tumours together with a specific 17q gain pattern. The tetraploid tumour had these features together with additional whole chromosomal loss of chromosomes 3, 9, 14 and 15. Based on the data presented here we suggest that loss of PHOX2B and 17q gain are early events in neuroblastoma tumourigenesis. We also propose investigators to re-analyze the rare cases of multifocal neuroblastomas with the array CGH technique for better understanding of the origin of these tumours.