Literature search from ms 29/4/2010
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Urushihara, N., Y. Nakagawa, et al. (1999). "Ondine's curse and Hirschsprung's disease: neurocristopathic syndrome." EUROPEAN JOURNAL OF PEDIATRIC SURGERY 9(6): 430-2. We report a female newborn with Ondine's curse and Hirschsprung's disease--neurocristopathic syndrome. The female infant required endotracheal intubation and mechanical ventilation due to apnea which developed soon after birth. She had abdominal distension with bilious vomiting. A barium enema revealed a caliber change at the rectum and rectal biopsies showed no ganglion cells. Colostomy was performed at the age of 17 days. Hypoxemia with hypercapnia was noted during her sleep, and tracheostomy was performed at the age of 55 days. In addition, deafness and pupillary autonomic dysfunction were observed. The definitive surgery for Hirschsprung's disease was performed at the age of 4 months. She is now 2 years old with normal growth but needs ventilator support at home. In this case, we detected no mutation in the RET gene and EDNRB gene. Vaisrub, S. (1981). "The kiss of death." JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION 245(11): 1152. van de Borne, P. (2005). "New evidence of baroreflex dysfunction in congenital central hypoventilation syndrome." CLINICAL SCIENCE 108(3): 215-6. In this issue of Clinical Science, Trang and co-workers report the results of short-term blood pressure and heart rate variability measurements in patients with congenital central hypoventilation syndrome (CCHS). The results reveal that these young patients disclose signs of vagal withdrawal and baroreflex failure. Baroreflex sensitivity was reduced by one third compared with the matched control subjects; however, patients have a relative preservation of the cardiac and vascular sympathetic function. These findings are clearly new and improve our understanding of CCHS physiopathology. Nevertheless, more research is needed to better delineate the respective contribution of cardiac vagal and sympathetic dysregulation, and the extent to which these abnormalities relate to genetic mutations as well as to clinical status. van der Windt Daniëlle, A. W. M., J. van der Heijden Geert, et al. (2002) Therapeutic ultrasound for acute ankle sprains. Cochrane Database of Systematic Reviews Volume, DOI: 10.1002/14651858.CD001250 BACKGROUND: Ultrasound is used in the treatment of a wide variety of musculoskeletal disorders. OBJECTIVES: To evaluate the effects of ultrasound therapy in the treatment of acute ankle sprains. SEARCH STRATEGY: We searched the Cochrane Bone, Joint and Muscle Trauma Group Specialised Register (July 2004), the Cochrane Central Register of Controlled Trials (The Cochrane Library Issue 2, 2004), MEDLINE (1966 to July 2004), EMBASE (1983 to July 2004), CINAHL (1982 to July 2004), and PEDro - the Physiotherapy Evidence Database (http://ptwww.cchs.usyd.edu.au/pedro/) (accessed 17/09/04). We also searched the Cochrane Rehabilitation and Related Therapies Field database, reference lists of articles, and contacted colleagues. SELECTION CRITERIA: Randomised trials were included if the following conditions were met: at least one study group was treated with active ultrasound; participants had acute lateral ankle sprains; and outcome measures included general improvement, pain, swelling, functional disability, or range of motion. Final selection of papers was conducted by two authors independently. DATA COLLECTION AND ANALYSIS: Two authors independently assessed quality using a standardised checklist and extracted data. Relative risks together with 95 per cent confidence intervals were calculated for dichotomous outcomes and weighted or, where different scales were used, standardised mean differences together with 95 per cent confidence intervals for continuous outcome measures. Pooling of data was undertaken where there was clinical homogeneity in terms of participants, treatments, outcomes, and follow-up time points. MAIN RESULTS: Five trials were included, involving 572 participants. Four of these trials were of modest methodological quality and one placebo-controlled trial was considered to be of good quality. None of the four placebo-controlled trials (sham ultrasound) demonstrated statistically significant differences between true and sham ultrasound therapy for any outcome measure at seven to 14 days of follow up. The pooled relative risk for general improvement was 1.04 (random-effects model, 95% confidence interval 0.92 to 1.17) for active versus sham ultrasound. The differences between intervention groups were generally small, between zero and six per cent for most dichotomous outcomes. However, one trial reported relatively large differences for pain-free status (20%) and swelling (25%) in favour of ultrasound. AUTHORS' CONCLUSIONS: The extent and quality of the available evidence for the effects of ultrasound therapy for acute ankle sprains is limited. The results of four placebo-controlled trials do not support the use of ultrasound in the treatment of ankle sprains. The magnitude of treatment effects are generally small and of limited clinical importance. As yet, only few trials are available and no conclusions can be made regarding any optimal dosage schedule for ultrasound therapy, and whether such a schedule would improve the reported lack of effectiveness of ultrasound for ankle sprains. THERAPEUTIC ULTRASOUND FOR ACUTE ANKLE SPRAINS: Ultrasound, or the use of high frequency sound pulses, is commonly used for treating acute ankle sprains. It is thought that the increase in temperature caused by ultrasound helps soft tissue healing. This review of trials found that ultrasound therapy does not seem to help to reduce pain and swelling, or to improve the ability to stand on the affected foot. Most injuries heal quickly within about two weeks, and ultrasound does not seem to hasten recovery. Most trial results do not support the use of ultrasound, as any differences in effect are very small. van Limpt, V., A. Chan, et al. (2005). "Phox2B mutations and the Delta-Notch pathway in neuroblastoma." CANCER LETTERS 228(1-2): 59-63. We recently identified six neuroblastoma patients with constitutional or tumor-specific mutations in the homeobox gene Phox2B. Phox2B controls part of the differentiation program of the sympathetic nervous system (SNS). Mice with a homozygous inactivation of Phox2B fail in the proper differentiation of the chromaffin lineage of the SNS. Phox2B regulates HASH1 which can control expression of genes of the Delta-Notch pathway. We previously showed that a subset of neuroblastoma cell lines highly expresses Delta-like 1 (Dlk1), which is a marker for the chromaffin lineage of the SNS. Notch3 is expressed in another subset of neuroblastoma cell lines and marks tumors from an alternative differentiation lineage. Phox2B is also related to the TrkA differentiation pathway in neuroblastoma. Here we will review the role of Phox2B in differentiation programs of the SNS and in neuroblastoma pathogenesis. [References: 26] van Limpt, V., A. Schramm, et al. (2004). "The Phox2B homeobox gene is mutated in sporadic neuroblastomas." ONCOGENE 23(57): 9280-8. Neuroblastomas are embryonal tumours of the sympatho-adrenal lineage with a clinical course ranging from spontaneous regression to fatal progression. The Phox2B homeobox transcription factor functions in the differentiation of the sympatho-adrenal lineage. Targets of Phox2B are, for example, genes of the (nor)adrenalin synthesis route, like Dopamine Beta Hydroxylase (DBH). Congenital Central Hypoventilation Syndrome was recently found to result from Phox2B mutations and two such patients in addition developed neuroblastoma. A germline mutation in Phox2B was identified in a family with hereditary neuroblastoma. Here, we report the first analysis of Phox2B in a series of 237 sporadic neuroblastomas and 22 cell lines. Six frameshift mutations were found in exons 2 and 3; including one in cell line SK-N-SH. Two patients showed de novo constitutional mutations. One of them was diagnosed with Haddad syndrome. All analysed cases expressed the mutated and wild-type Phox2B alleles. Ectopic expression of TrkA, the Nerve Growth Factor receptor, strongly downregulated Phox2B and DBH expression in cell line SH-SY5Y. However, TrkA and Phox2B showed a positive correlation in a panel of 66 neuroblastoma tumours. Although Phox2B mutations are infrequent (2.3%), they implicate a role for the Phox2B pathway in oncogenesis. Vanderlaan, M., C. R. Holbrook, et al. (2004). "Epidemiologic survey of 196 patients with congenital central hypoventilation syndrome." PEDIATRIC PULMONOLOGY 37(3): 217-29. This study examined the cross-sectional medical and social characteristics of children diagnosed with congenital central hypoventilation syndrome (CCHS). A detailed questionnaire was mailed to all families with a child with CCHS who are affiliated with a family network or support group. The questionnaire response rate was >75% (n=196). Mean age was 10.22 years +/- 6.6 years (SD) (range, 0.4-38 years), with a 1:1 sex ratio. Multisystem involvement was almost universal among the cohort, with Hirschsprung's disease (HD) present in 16.3%; 61.7% of the children had a tracheotomy, but 14.3% were never tracheotomized, with 77 subjects (39.3%) not having a tracheostomy tube at time of survey. Respiratory support approaches varied but clearly reflected the trend towards earlier and more widespread transition to noninvasive ventilatory modalities. Significant developmental problems were noted, but attendance in regular classes occurred in the majority. Significant deficiencies in routine periodic evaluation and management were reported. In addition, the presence of CCHS was associated with a significant financial and psychosocial burden to the families. In conclusion, a comprehensive survey of 196 CCHS children and their families revealed a cross-sectional picture of substantial medical and psychosocial complexities associated with this disorder, and pointed out substantial inadequacies in routine preventive care that appear to impose stress on the families. The emerging trend of earlier transition to noninvasive ventilatory support warrants future studies. Implementation of recommended guidelines for diagnosis and multidisciplinary follow-up of CCHS should ultimately ameliorate the long-term outcome of this lifelong condition. Copyright 2004 Wiley-Liss, Inc. Vanderlaan, M. B. (1997). "CCHS children in North America: Medical and home-care issues." PEDIATRIC PULMONOLOGY 23(2): 159-161. Varma, R. R., P. K. Narayanankutty, et al. (2002). "Hirschsprung's disease associated with Ondine's curse." INDIAN JOURNAL OF PEDIATRICS 69(11): 987-8. This is a case report of a very rare combination of congenital aganglionosis of the intestine (Hirschsprung's disease) and congenital central hypoventilation syndrome-CCHS- (Ondine's curse). The combination is also called Haddad syndrome. In about 50% of the cases of CCHS there is associated Hirschsprung's disease. There are only about 48 cases reported worldwide. The disease has a very high mortality especially in the settings of a developing country.
OBJECTIVES: In 2002, Canada undertook its first national survey on mental health and well-being, including detailed questioning on service use. Mental disorders may affect more than 1 person in 5, according to past regional and less comprehensive mental health surveys in Canada, and most do not seek help. Individual determinants play a role in health resource use for mental health (MH) reasons. This study aimed to provide prevalence rates of health care service use for MH reasons by province and according to service type and to examine determinants of MH service use in Canada and across provinces. METHODS: We assessed the prevalence rate (95% confidence interval [CI]) of past-year health service use for MH reasons, and we assessed potential determinants cross-sectionally, using data collected from the Statistics Canada Canadian Community Health Survey: Mental Health and Well-Being (CCHS 1.2). We estimated models of resource use with logistic regression (using odds ratios and 95%CIs). RESULTS: The prevalence of health service use for MH reasons in Canada was 9.5% (95%CI, 9.1% to 10.0%). The highest rates, on average, were observed in Nova Scotia (11.3%; 95%CI, 9.6% to 13.0%) and British Columbia (11.3%; 95%CI, 10.1% to 12.6%). The lowest rates were observed in Newfoundland and Labrador (6.7%; 95%CI, 5.3% to 8.0%) and Prince Edward Island (7.5%; 95%CI, 5.8% to 9.3%). In Canada, the general medical system was the most used for MH reasons (5.4%; 95%CI, 5.1% to 5.8%) and the voluntary network sector was the least used (1.9%; 95%CI, 1.7% to 2.1%). No difference was observed in the rate of service use between specialty MH (3.5%; 95%CI, 3.2% to 3.8%) and other professional providers (4.0%; 95%CI, 3.7% to 4.3%). In multivariate analyses, after adjusting for age and sex, the presence of a mental disorder was a consistent predictor of health service use for MH across the provinces. CONCLUSIONS: There is up to a twofold difference in the type of service used for MH reasons across provinces. The primary care general medical system is the most widely used service for MH. Need remains the strongest predictor of use, especially when a mental disorder is present. Barriers to access, such as income, were not identified in all provinces. Different sociodemographic variables played a role in service seeking within each province. This suggests different attitudes toward common mental disorders and toward care seeking among the provinces. Vergani, L. and C. Angelini (1999). "Infantile lipid storage myopathy with nocturnal hypoventilation shows abnormal low-affinity muscle carnitine uptake in vitro." NEUROMUSCULAR DISORDERS 9(5): 320-2. An infant with respiratory insufficiency, cardiomyopathy, lipid storage myopathy and low muscle carnitine was diagnosed as having 'Ondine's curse' because of recurrent nocturnal hypoventilation. Carnitine uptake was studied in 20-day-old cultured muscle, where two distinct saturable transport components are recognized: the high- and low-affinity-uptake. Experimental evidence suggests that low-affinity-uptake is muscle-specific, operating at physiological carnitine concentration. In the patient's cultured myotubes, the low-affinity-uptake K(m) was 260% of controls (P < 0.01), whereas kinetic parameters of high-affinity uptake were normal. The high K(m) indicates an immature or altered carnitine muscle carrier, which may decrease the physiologic carnitine uptake. Verloes, A., C. Elmer, et al. (1993). "Ondine-Hirschsprung syndrome (Haddad syndrome). Further delineation in two cases and review of the literature." EUROPEAN JOURNAL OF PEDIATRICS 152(1): 75-7. Two unrelated children with congenital central hypoventilation syndrome (CCHS-Ondine syndrome) and long segment Hirschsprung disease are reported. Patient 1, a girl, is still alive at 3 years. Patient 2, a boy, died of viral pneumonia at 5.5 years. Continuous mechanical ventilation was necessary for months and those children could never be weaned from the respirator during sleep. Seventeen cases of this complex neurocristopathy are reviewed. Only six children (including our cases) survived beyond 2 years of age. Hypotonia, delay in developmental milestones or epilepsy were frequently observed. Ventilator dependency does not improve with time. Multifocal congenital neuroblastoma occurred in two children. Aetiology is unknown. [References: 18] Vestbo, J., E. Prescott, et al. (1998). "Vital prognosis after hospitalization for COPD: a study of a random population sample." RESPIRATORY MEDICINE 92(5): 772-6. STUDY AIM: To examine survival after admission due to chronic obstructive pulmonary disease (COPD) in a population sample over a time span of 15 years. DESIGN: Linkage between a prospective population cohort and register information on hospitalization and mortality. SETTING: The Copenhagen City Heart Study (CCHS). PARTICIPANTS: A total of 267 men and 220 women who had participated in the CCHS and who were hospitalized with a discharge diagnosis of COPD (ICD-8 491-2). MAIN RESULTS: The crude 5-yr survival rate after a COPD admission was 45% (37% for men and 52% for women). Mortality risk increased with age and with decreasing forced expiratory volume in 1 s (FEV1)% predicted; for subjects with an FEV1 < or = 40% at the CCHS survey, 5-yr survival after subsequent hospitalization was only 28%. Smoking and presence of chronic mucus hypersecretion at the examination in CCHS were not strongly associated with prognosis. Survival after admission due to COPD did not change significantly over time. CONCLUSION: Compared to previous studies of COPD patients, the present study indicates that prognosis after hospital admission remains virtually unchanged over the last decades. FEV1 is still the strongest predictor of survival in this patient group. Viemari, J.-C. (2008). "Noradrenergic modulation of the respiratory neural network." Respiratory Physiology & Neurobiology 164(1-2): 123-30. Noradrenergic dysregulation has been reported in human pathologies affecting the control of breathing, such as sudden infant death syndrome, congenital central hypoventilation syndrome and Rett syndrome. Noradrenergic neurons, located predominantly in pontine nuclei, are among the earliest to arise within the hindbrain and play an essential role in the maturation of the respiratory network. Noradrenergic neurons also play a major role in the modulation of the respiratory motor pattern from birth through adulthood. The critical importance of this signaling system in respiratory control is illustrated by the severe respiratory disturbances associated with gene mutations affecting noradrenergic neurons (Phox2 and Mecp2). Here, the role of catecholaminergic pontine nuclei in the control of breathing, the cellular effects of norepinephrine on the respiratory network and the pathological consequence to breathing of abnormalities in this signaling system will be discussed. [References: 96] Vingerhoets, F. and J. Bogousslavsky (1994). "Respiratory dysfunction in stroke." CLINICS IN CHEST MEDICINE 15(4): 729-37. Respiratory function depends on numerous neurologic structures, the organization of which extends from the cerebral cortex to the medulla. The study of patients who have had strokes has allowed deductions about this organization, and various neurologic pathways have been increasingly recognized. The voluntary pathway travels with the corticospinal motor tract. It is typically damaged in the "locked-in" syndrome and leads to normal automatic breathing that cannot be voluntarily altered. The automatic pathway takes its origin in the lower brainstem and is damaged mainly in lateral medullary strokes. Even a unilateral lesion here may lead to complete failure of respiration and result in death during sleep (Ondine's curse). The preservation of the limbically induced fluctuations of respiration in automatic breathing suggests a third pathway that may share its distal extent with the automatic pathway. Respiratory dysfunctions may also provide useful information regarding the cause and prognosis of stroke. [References: 47] Viprey, V. F., M. A. Lastowska, et al. (2008). "Minimal disease monitoring by QRT-PCR: guidelines for identification and systematic validation of molecular markers prior to evaluation in prospective clinical trials." JOURNAL OF PATHOLOGY 216(2): 245-52. Real-time RT-PCR (QRT-PCR) is a sensitive method for the detection of minimal disease (MD) and may improve monitoring of disease status and stratification of patients for therapy. Where tumour-specific mRNAs have not been identified, the selection of which target(s) is(are) optimal for the detection of MD remains a challenge. This reflects the heterogeneity of tumour cells, the stability of mRNAs and low-level of transcription in cells of the normal haemopoietic compartments. The aim of this study was to establish for the first time guidelines for the systematic prioritization of potential markers of MD detected by QRT-PCR prior to evaluation in multicentre prospective clinical outcome studies. We combined microarray analysis, ESTs gene expression profiles, improved probe-sets sequence annotation, and previously described standard operating procedures for QRT-PCR analysis to identify and prioritize potential markers of MD. Using this methodology, we identified 49 potential markers of MD in neuroblastoma (NB), of which 11 were associated with neuronal function. We found that, in addition to TH, Phox2B and DCX mRNA may be useful targets for the detection of MD in children with NB. This same strategy could be exploited to select MD markers of other solid tumours from the large number of potential targets identified by microarray gene expression profiles. Vogel-Hopker, A. and H. Rohrer (2002). "The specification of noradrenergic locus coeruleus (LC) neurones depends on bone morphogenetic proteins (BMPs)." DEVELOPMENT 129(4): 983-991. The role of BMPs in the development of the major noradrenergic centre of the brain, the locus coeruleus (LC), was investigated. LC generation is reflected by initial expression of the transcription factors Phox2a and Phox2b in dorsal rhombomere1 (r1), followed by expression of dopamine-beta-hydroxylase and tyrosine hydroxylase. Bmp5 is expressed in the dorsal neuroepithelium in proximity to Phox2-expressing cells. BMP inhibition in stage 10 chick embryos resulted in the lack of LC neurones or in their generation at the dorsal midline, and loss of roof plate and rhombic lip, but it did not affect neural crest development. These results reveal late essential BMP functions in the specification of dorsal neuronal phenotypes in r1, including LC neurones, and in the development of dorsal midline structures. Wagner, M. H. and R. B. Berry (2007). "A full term infant with cyanotic episodes. Congenital central hypoventilation syndrome." Journal of Clinical Sleep Medicine 3(4): 425-6. Wallis, D. A. (2002). "Reduction of trauma symptoms following group therapy." The Australian and New Zealand journal of psychiatry(1): 67-74. OBJECTIVE: We examined the effect of a group programme for the treatment of adults suffering the sequelae of childhood abuse and/or neglect. Symptom reduction was the indicator of whether this group programme was an effective treatment modality. METHOD: This was an experimental field study using a prepost design and General Linear Model (GLM) analyses. The group programme was conducted for adult survivors of child abuse and neglect and took place at Specialty Clinics, Central Coast Mental Health Services. There were 83 participants, comprising 64 women and 19 men; 56 were in the experimental group, and 17 in the control (waitlist) group. The Trauma Symptom Inventory (TSI) was administered to both experimental and control groups prior to receiving treatment and again three months later. RESULTS: General Linear Model analyses indicated there was a reduction of trauma symptoms for the experimental group on seven of the 10 scales of the TSI and on the three composite scales; no similar reduction was found for the control group. CONCLUSIONS: The study indicates that this group programme may have been an effective treatment modality for abuse survivors. The level of symptomatology was reduced for those in the group programme compared with the control group for whom there were no changes.
OBJECTIVE: Stress plays an important role in the etiology of mental and physical disorders. The effect of stress on health may be moderated by how people deal with stress. The objectives of this analysis were to (1) estimate the population proportions using various ways of dealing with stress in healthy people, in people with mental disorders and substance dependence and in individuals with general medical conditions only, and (2) identify factors associated with ways of dealing with stress. METHODS: Data from the Canadian Community Health Survey, Mental Health and Well-being (CCHS-1.2) were used (n = 36,984). This was a national mental health survey which used a probability sample and incorporated a version of the Composite International Diagnostic Interview. RESULTS: Participants with mental disorders differed from healthy people in ways of dealing with stress. Among participants with mental disorders, women were more likely to report that they "talk to others" and "eat more/less" to deal with stress. Men were more likely to use "avoid people" and "drink alcohol" to deal with stress than women. Age differences within groups in ways of dealing with stress were found and having a history of mental disorders was also associated with reported ways of dealing with stress. CONCLUSIONS: Ways of dealing with stress differ by gender and age, but there is no over-arching pattern of maladaptive coping associated with mental disorders that applies across illness, age and gender categories. Healthy behaviors should be promoted as ways to relieve stress, leading to better self-care skills. Yüklə 1,38 Mb. Dostları ilə paylaş:
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