Literature search from ms 29/4/2010



Yüklə 1,38 Mb.
səhifə35/45
tarix27.07.2018
ölçüsü1,38 Mb.
#60344
1   ...   31   32   33   34   35   36   37   38   ...   45

Sasaki, A., M. Kanai, et al. (2003). "Molecular analysis of congenital central hypoventilation syndrome." HUMAN GENETICS 114(1): 22-6.

Congenital central hypoventilation syndrome (CCHS or Ondine's curse; OMIM 209880) is a disorder characterized by an idiopathic failure of the automatic control of breathing. CCHS is frequently complicated with neurocristopathies such as Hirschsprung's disease (HSCR). The genes involved in the RET-GDNF signaling and/or EDN3-EDNRB signaling pathways have been analyzed as candidates for CCHS; however, only a few patients have mutations of the RET, EDN3, and GDNF genes. Recently, mutations of the PHOX2B gene, especially polyalanine expansions, have been detected in two thirds of patients. We studied the RET, GDNF, GFRA1, PHOX2A, PHOX2B, HASH-1, EDN1, EDN3, EDNRB, and BDNF genes in seven patients with isolated CCHS and three patients with HSCR. We detected polyalanine expansions and a novel frameshift mutation of the PHOX2B gene in four patients and one patient, respectively. We also found several mutations of the RET, GFRA1, PHOX2A, and HASH-1 genes in patients with or without mutations of the PHOX2B gene. Our study confirmed the prominent role of mutations in the PHOX2B gene in the pathogenesis of CCHS. Mutations of the RET, GFRA1, PHOX2A, and HASH-1 genes may also be involved in the pathogenesis of CCHS. To make clear the pathogenesis of CCHS, the analysis of more cases and further candidates concerned with the development of the autonomic nervous system is required.


Satyanarayana, S., M. W. Enns, et al. (2009). "Prevalence and correlates of chronic depression in the canadian community health survey: mental health and well-being." Canadian Journal of Psychiatry - Revue Canadienne de Psychiatrie 54(6): 389-98.

OBJECTIVE: To determine the prevalence and correlates of chronic depression in comparison with nonchronic depression using a population-representative national database. METHODS: Our study used data from the Canadian Community Health Survey: Mental Health and Well-Being (CCHS 1.2) to determine the lifetime prevalence and correlates of major depression with chronic symptoms in the population. The CCHS 1.2 is a large, cross-sectional mental health survey conducted by Statistics Canada (n = 36 984, aged 15 years and older). RESULTS: The observed lifetime prevalence of major depression with chronic symptoms was 2.7%, representing 26.8% of all people with major depressive disorder (MDD). In comparison to nonchronic major depression, chronic depression was associated with more frequent psychiatric and medical comorbidity, greater disability, increased health service use, and higher likelihood of suicidal ideation and attempts. CONCLUSIONS: Major depression with chronic symptoms is common in the general population, and is associated with more severe health consequences than nonchronic depression. These observations indicate that chronic major depression is a very important subtype of MDD from a public health perspective.


Sauer, C. J. E., J. C. Langer, et al. (2005). "The versatility of the umbilical incision in the management of Hirschsprung's disease." JOURNAL OF PEDIATRIC SURGERY 40(2): 385-9.

BACKGROUND/PURPOSE: The aim of this report is to describe how the umbilical incision provides a quick and safe alternative to laparoscopy or other abdominal incisions in the management of Hirschsprung's disease (HD). METHODS: An analysis of 24 patients with HD, who were treated using an umbilical incision as part of their operative management between 1999 and 2003, was performed. RESULTS: There were 18 boys and 6 girls (mean age at diagnosis: 16.5 +/- 20.9 days). Twenty-one had rectosigmoid HD, and 3 had total colonic HD. Eighteen patients received a 1-stage transanal pull-through with transumbilical colonic biopsies at a mean age of 33.9 +/- 25.3 days, and a mean weight of 3.8 +/- 1.0 kg. Three patients with rectosigmoid disease had more complicated HD: 2 had a colostomy (1 enterocolitis, 1 extensive colonic dilatation), and 1 had an ileostomy (for perforated cecum). All subsequently underwent transanal pull-through. Three patients with total colonic HD had an ileostomy. All stomas were situated at the umbilicus. One of these patients subsequently underwent a Duhamel procedure via the umbilicus; 1 is still waiting; and 1 died of sepsis. Complications in this cohort included a seromuscular tear of the distal sigmoid at the level of the umbilical incision (1), infection at the umbilical incision requiring antibiotics (2), obstruction (1) and death (1 sepsis, 1 from Ondine's curse). The median time to start full feeds was 24 hours. For postoperative analgesia, 13 patients required acetaminophen only, and 9 patients received low-dose morphine. After a mean follow-up of 7.3 +/- 9.7 months, there has been an excellent functional and cosmetic result in the 22 survivors. CONCLUSIONS: The umbilical incision has all the benefits of a minimal access approach, but is less expensive and requires no specialized equipment or skill. The umbilical incision is an excellent, safe, and versatile alternative to laparoscopy for the treatment of patients with the full spectrum of HD.


Schaafsma, F., E. Schonstein, et al. (2010) Physical conditioning programs for improving work outcomes in workers with back pain. Cochrane Database of Systematic Reviews Volume, DOI: 10.1002/14651858.CD001822.pub2

BACKGROUND: Physical conditioning programs aim to improve work status for workers on sick leave. This is an update of a Cochrane Review (Work conditioning, work hardening and functional restoration for workers with back and neck pain) first published in 2003. OBJECTIVES: To compare the effectiveness of physical conditioning programs in reducing time lost from work for workers with back pain. SEARCH STRATEGY: We searched the following databases to June/July 2008: CENTRAL (The Cochrane Library 2008, issue 3), MEDLINE from 1966, EMBASE from 1980, CINAHL from 1982, PsycINFO from 1967, and PEDro. SELECTION CRITERIA: Randomized controlled trials (RCTs) and cluster RCTs that studied workers with work disability related to back pain and who were included in physical conditioning programs. DATA COLLECTION AND ANALYSIS: Two review authors independently extracted data and assessed risk of bias. MAIN RESULTS: Thirty-seven references, reporting on 23 RCTs (3676 workers) were included, 13 of which had a low risk of bias. In 14 studies, physical conditioning programs were compared to usual care. In workers with acute back pain, there was no effect on sickness absence. For workers with subacute back pain, we found conflicting results, but subgroup analysis showed a positive effect of interventions with workplace involvement. In workers with chronic back pain, pooled results of five studies showed a small effect on sickness absence at long-term follow-up (SMD: -0.18 (95% CI: -0.37 to 0.00)). In workers with chronic back pain, physical conditioning programs were compared to other exercise programs in six studies, with conflicting results. The addition of cognitive behavioural therapy to physical conditioning programs was not more effective than the physical conditioning alone. AUTHORS' CONCLUSIONS: The effectiveness of physical conditioning programs in reducing sick leave when compared to usual care or other exercises in workers with back pain remains uncertain. In workers with acute back pain, these programs probably have no effect on sick leave, but there may be a positive effect on sick leave for workers with subacute and chronic back pain. Workplace involvement might improve the outcome. Better understanding of the mechanism behind physical conditioning programs and return-to-work is needed to be able to develop more effective interventions. PHYSICAL CONDITIONING PROGRAM FOR IMPROVING WORK OUTCOMES IN WORKERS WITH BACK PAIN: The main goal of physical conditioning programs, sometimes called work conditioning, work hardening or functional restoration/exercise programs, is to return injured or disabled workers to work or improve the work status for workers performing modified duties. Such programs either simulate or duplicate work, functional tasks, or both, in a safe, supervised environment. These tasks are structured and progressively graded to increase psychological, physical and emotional tolerance and improve endurance and work feasibility. In such environments, injured workers learn appropriate job performance skills in addition to improving their physical condition, through an exercise program aimed at increasing strength, endurance, flexibility, and cardiovascular fitness. Work hardening programs are individualized, work-oriented activities that involve clients in simulated or actual work tasks. Work conditioning is a program with an emphasis on physical conditioning that addresses the issues of strength, endurance, flexibility, motor control, and cardiopulmonary function. Functional restoration refers to any intervention aimed at restoring a reasonable functional level for daily living, including work.Based on 23 included studies, we analysed eight comparisons of physical conditioning programs versus care as usual or other types of interventions, such as standard exercise therapy for different durations of back pain and follow-up times. We divided physical conditioning programs into a light or an intense program depending on its intensity and duration. Results showed that light physical conditioning programs have no signific nt effect on sickness absence duration for workers with subacute or chronic back pain. We found conflicting results for intense physical conditioning programs for workers with subacute back pain. Further analysis suggested a positive effect on sick leave when the workplace was involved in the intervention. Physical conditioning programs probably have a small effect on return-to-work for workers with chronic back pain. We found conflicting results for intense physical conditioning programs compared to other exercise therapy in the first two years of sick leave. No difference in effect was found between a light or an intense physical conditioning program. We found that cognitive behavourial therapy probably has no value as an alternative therapy, or in addition to physical conditioning programs.
Schafer, C., T. Schafer, et al. (1999). "[Sleep-phase-related home therapy in congenital central hypoventilation syndrome (CCHS)]." MEDIZINISCHE KLINIK 94(1 Spec No): 15-7.

PATIENTS AND METHOD: Eight children with congenital central hypoventilation syndrome (CCHS) (aged 3 to 16 years) underwent repeated polysomnographic recordings (sleep-EEG, induction plethysmography, PtcO2, PtcCO2, PACO2, FO2, SaO2, ECG) during spontaneous breathing and during therapy. The result led to individual therapeutic plans. RESULT: During NREM sleep a close relationship between increasing EEG-delta-activity and increasing PCO2 could be observed (PCO2 max. 107 mm Hg in NREM IV). A similar effect was seen during mechanical ventilation with decreasing spontaneous respiratory activity during increasing sleep depth (PCO2 max. 89 mm Hg in NREM IV). Associated with NREM I/II and REM sleep strong variations in spontaneous breathing with consecutive variations of blood gases were observed. Hyperventilation during REM sleep (PCO2 min. 20 mm Hg) could occur with continuous mechanical ventilation. A continuous blood gas monitoring improved home therapy since blood gas adapted control of mechanical ventilation was possible now. This caused a stabilization of blood gases in sleep. CONCLUSION: Patients with CCHS show a vigilance-dependent, enlarged variability of blood gases which should be considered in the management of home therapy. Continuous monitoring and blood gas adapted mechanical ventilation obtain a stabilization of acid-base balance during sleep. Preliminary data suggest a positive effect on sleep-wake quality and mental performance.


Schafer, C., T. Schafer, et al. (1996). "Home ventilation in Ondine's curse syndrome. Control with ambulatory monitoring. [German]." Atemwegs- und Lungenkrankheiten 22(8): 437-438.

Schafer, C., T. Schafer, et al. (1996). "Quality control of ventilatory therapy by continuous ambulatory monitoring in congenital central hypoventilation (CCHS). [German]." WIENER MEDIZINISCHE WOCHENSCHRIFT 146(13-14): 323-324.

4 children with congenital central hypoventilation syndrome (CCHS) now aged 6 to 9 years were studied for 1 to 8 years. In all patients CO2-response is missing, hypoxic drive is maintained. All patients required mechanical ventilation after birth. 1 patient is supported by controlled oxygen therapy during sleep since 9 months of age. 2 patients are IPPV-ventilated during sleep. 1 patient is pressure control ventilated with an oro-nasal mask since 6 years of age. All children showed phases of hypo- and hyperventilation (max. pCO2 107 mm Hg) depending on vigilance with respiratory acidosis in awake state and during sleep. These findings required ambulatory monitoring of home-therapy by a professional guard and continuous recording of pCO2 and pulse-oximetry. These longtime data (max. pCO2 72 mm Hg) show that ambulatory monitoring and control of therapy is able to avoid extreme variation of blood gases and to stabilize acid-base regulation during sleeptime in patients with CCHS.
Schafer, T., C. Schafer, et al. (1999). "[From tracheostomy to non-invasive mask ventilation: a study in children with congenital central hypoventilation syndrome]." MEDIZINISCHE KLINIK 94(1 Spec No): 66-9.

BACKGROUND: Children with congenital central hypoventilation syndrome (CCHS) have to be ventilated during sleep due to respiratory insensitivity to CO2. This long-term mechanical ventilation sometimes requires a tracheostomy during infancy, leading to increased risk of infections and of tracheal problems, and later on to stigmatization and restrictions in social life. PATIENTS AND METHOD: We therefore evaluated non-invasive mask ventilation in 4 children between 6 and 15 years of age, who had been ventilated via tracheal canula since early infancy under polysomnographic control. RESULTS: Best results were obtained with standard face masks in connection with pressure controlled timed ventilation. In 1 child we used a volume-controlled ventilator. The lack of dyspnea in these patients can worsen the acceptance of a face mask, which is more uncomfortable than a tracheal cannula. In 2 children we waited with the definite closure of the tracheostomy due to pavor-like symptoms and laryngeal closure during sleep and problems in acceptance of the mask, respectively. In the other 2 children we could demonstrate effective non-invasive mask ventilation during temporary tracheal closure for several nights. Therefore the tracheostomy was definitely closed. Long-term follow-up with home monitoring showed effectiveness of non-invasive ventilation in these cases.


Schafer, T. and M. E. Schlafke (1997). "[Postnatal development of breathing control]." PNEUMOLOGIE 51 Suppl 2: 411-4.

Respiratory movements already occur in the fetus together with low amplitude high frequency EEG. During birth external stimuli drive respiration, supported by the development of hypercapnia, hypoxia and acidosis. The thresholds of the chemosensitive systems adapt during the first hours and days of life (CO2 sensitivity) or weeks (hypoxic sensitivity). In 180 healthy infants between 5 days and 18 months of age we performed respiratory CO2-responses during NREM-sleep and studied the immediate response to inhalation of 60% oxygen (Dejours test) as well as in 8 children with congenital central alveolar hypoventilation syndrome (CCHS) and 15 infants who experienced an apparently life-threatening event (ALTE). Infants older than 2 weeks had a mean PCO2 of 40-42 mmHg, the slope of the CO2-response showed no age trend and was found in the range of adults with a 22-38% increase in ventilation per Torr increased PCO2. Preterm infants had a significant lower CO2-response (16 vs. 33%) until they reached their estimated normal birth date. In the ALTE group the CO2-response was suppressed to 17%. Children with CCHS did not respond to CO2 by increasing their ventilation, even after years. The response to hyperoxia as a measure of peripheral chemoreceptor activity decreased from a 31% initial inhibition of ventilation at 1 month to 20% at one year. Our results indicate that temporary or lasting reduction or lack of the respiratory CO2 sensitivity may cause apneic events or hypoventilation. Different slopes of CO2- and hyperoxic responses in very young infants compared to older ones favour the occurrence of oscillations in the control of breathing such as periodic breathing during sleep.


Schaffer, A., J. Cairney, et al. (2009). "Differences in prevalence and treatment of bipolar disorder among immigrants: results from an epidemiologic survey." Canadian Journal of Psychiatry - Revue Canadienne de Psychiatrie 54(11): 734-42.

OBJECTIVE: To add to the limited data on the prevalence, clinical characteristics, and treatment of bipolar disorder (BD) among immigrants. METHOD: Data were obtained from a large epidemiologic survey, the Canadian Community Health Survey-Mental Health and Well-Being (CCHS 1.2). Lifetime prevalence rates of BD were compared between immigrant and nonimmigrant respondents. Among BD subjects (n = 831), sociodemographic, clinical, and mental health treatment use variables were compared based on immigrant status. Logistic regression was used to determine the correlates of lifetime contact with a mental health professional and 12-month psychotropic medication use. RESULTS: Lifetime prevalence rate of CCHS 1.2-defined BD was significantly lower among immigrant, compared with nonimmigrant, participants (1.50% and 2.27%, P = 0.01). There were few sociodemographic or clinical differences, yet immigrants with BD were significantly less likely to report any lifetime contact with mental health professionals (OR = 0.25, 95% CI 0.13 to 0.50, P < 0.001). Past-year psychotropic medication use was numerically lower among immigrants with BD (24.5% and 41.0%); however, this did not reach statistical significance when controlling for other factors (OR = 0.49, 95% CI 0.24 to 1.01, P = 0.05). CONCLUSIONS: Based on the results of this study, there are in the range of 56 000 to 104 000 immigrants with BD in Canada. Further efforts are needed to better understand and address the barriers to mental health treatment use among immigrants who have BD.


Schau, B., G. Boysen, et al. (2003). "Development and validation of a model to estimate stroke incidence in a population." Journal of Stroke & Cerebrovascular Diseases 12(1): 22-8.

Stroke is a common condition with a substantial impact on health care. Using published epidemiological data, a mathematical model was created to predict annual stroke incidence in populations over 45 years old, utilizing age, gender, ethnicity, and stroke risk factor prevalence (hypertension, atrial fibrillation, diabetes, smoking, and ischemic heart disease). The purpose of this study is to assess the models ability to reliably estimate the annual number of first strokes. The model was validated against two cohorts: the Northern Manhattan Stroke Study (NM), performed in 1995 and 1996, and the Copenhagen City Heart Study (CCHS), undertaken in 1980-84, 1984-88, and 1988-93. Both cohorts provided the actual number of first strokes for respective years and risk factor prevalence. The Mantel-Haenszel test compared actual to predicted incidence rates. The two cohorts differed in risk factor prevalences, size, and demographics. For all cohort groups/years, the predicted number of annual first strokes was not statistically different from actual first stroke incidence (P > .05). In NM, the actual number of first strokes compared to predicted was 7 versus 13 (P = .18) for 1995 and 9 versus 18 (P = .08) for 1996. Actual and predicted annual strokes in CCHS for the time frames 1980-83, 1984-88, and 1988-93 were 65 versus 69 (P = .73), 72 versus 87 (P = .23), and 75 versus 93 (P = .16), respectively. The model provides a tool for estimating annual first strokes within a population, with a tendency of bias toward overestimating the number of incident strokes. This evidence-based model may be utilized by health policy makers to predict stroke burden at a population level.


Schestatsky, P. and L. N. T. Fernandes (2004). "Acquired Ondine's curse: case report." ARQUIVOS DE NEURO-PSIQUIATRIA 62(2B): 523-7.

We report and discuss the case of a 55-year old man who presented a history of stroke as well as chronic obstructive pulmonary disease. When admitted into the emergency room, he was diagnosed with a vertebro-basilar syndrome. A brain MRI showed a hyperintense area in the lower right brainstem laterally within the medulla, which corresponds to the area of the pathways descending from the autonomic breathing control center. During hospitalization, the patient had several episodes of prolonged apnea, mainly when asleep, having often to be "reminded" to breath. A tracheostomy was then performed with the patient under mechanical ventilation. Treatment with medroxyprogesterone, fluoxetine and acetazolamide was also started. He was discharged after 64 days breathing environmental air with no apparent episodes of apnea. He returned to the emergency room in the following day with a clinical picture of aspiration bronchopneumonia, followed by septic shock and death. CONCLUSION: the Ondine's curse is one of the posterior stroke's presentation characterized by loss of automatic breathing and for the unpredictability of clinical evolution and prognosis. Such a syndrome has rarely been reported in adults and the diagnostic criteria are not consensual in the reviewed literature. Thus any diagnostic confirmation should be flexible. There are many therapeutic symptomatic options in such cases, ranging from pharmacologic approach, use of bilevel positive airway pressure and implantation of diaphragmatic pacemaker.


Schlaefke, M. E., A. Luttmann, et al. (1980). "On the pathophysiology of central chemosensitivty of respiration. [German]." Atemwegs- und Lungenkrankheiten 6(3): 165-169.

The central chemosensitive structure is located within the ventral medullary layer of the medulla oblongata. Coagulation or cold bock of an area rostromedial from the hypoglossal root is followed by periodic breathing, hypoventilation, respiratory acidosis and apnea during night sleep. There are analogies to the Ondine's-Curse-Syndrome and Pickwick-Syndrome. Morphological studies on the medulla of SIDS and Pickwick-Syndrome indicate that superficial nerve cells in the ventral medullary layer may play a role in the central chemosensitive mechanism of respiration in man as well as in the cat.


Schlaefke, M. E., T. Schaefer, et al. (1987). "Transcutaneous monitoring as trigger for therapy of hypoxemia during sleep." ADVANCES IN EXPERIMENTAL MEDICINE & BIOLOGY 220: 95-100.

Based on results on central chemosensitivity in cats, paired stimuli were applied for therapy to infants with central respiratory insufficiency of various degrees. An unspecific respiratory stimulus, e.g. light for 1 s, was followed by a jet of either O2 or 2% CO2 in O2 for 1.5 s. The unspecific and the chemical stimuli were interspaced by 0.5 s. The combined stimulation was repeated every 10 s. The program was triggered by using threshold values of transcutaneous pO2. In infants with intratrachial tubes or tracheostoma we used the end tidal pCO2 for triggering the stimulation. The method could prevent hypoxemia during sleep in non-ventilated subjects with sleep apnea syndromes or in infants with severe hypoxemia during sleep after being rescued from Sudden Infant Death Syndrome (SIDS). In patients with Ondine's Curse Syndrome (OCS) with its CO2 insensitivity, paired stimuli were used in order to condition the chemical function of the respiratory system. Polysomnograms from 310 clinically healthy infants including healthy siblings of SIDS victims revealed instability of arterial pO2 and low CO2 sensitivity during sleep within the second month and the fourth to ninth month of life, respectively. These data challenge the described method as a potential preventive or therapeutic measure to defeat SIDS and sleep apnea syndromes in conjunction with disturbed chemical regulation of respiration.


Yüklə 1,38 Mb.

Dostları ilə paylaş:
1   ...   31   32   33   34   35   36   37   38   ...   45




Verilənlər bazası müəlliflik hüququ ilə müdafiə olunur ©muhaz.org 2024
rəhbərliyinə müraciət

gir | qeydiyyatdan keç
    Ana səhifə


yükləyin