Familial Childhood Sleep Apnea

We report four siblings who had polysomnographically documented sleep apnea. Two presented with the typical clinical picture of sleep apnea syndrome including daytime somnolence and snoring, had repetitive obstructive apneic episodes during sleep, and were effectively treated with upper airway surgery. The other two were asymptomatic and showed infrequent apneic episodes during sleep. This family illustrates the distinction between the sleep apnea syndrome and infrequent apneic episodes during sleep. The sleep apnea syndrome is associated with daytime symptomatology and requires treatment. The presence of apneic episodes during sleep in all four siblings has implications regarding the predisposing factors (eg, upper airway anatomy and central nervous system dysfunction) versus precipitating factors (eg, obesity, upper airway infection, and central nervous system depressants) in sleep apnea

Sleep-Wake Complaints and Their Relation to Sleep Disturbance

This report is a comparison of patients presenting with 1) an insomnia complaint diagnosed as no objective findings. 2) insomnia diagnosed as being associated with a psychiatric disorder, and 3) daytime sleepiness diagnosed as no objective findings. The sleep of patients with insomnia diagnosed as no objective findings is comparable to that of patients with daytime sleepiness diagnosed as no objective findings and is significantly better than that of patients with insomnia associated with a psychiatric disorder. Significant differences were found in sleep induction, sleep maintenance, and overall sleep efficiency. No major differences were found among any of the groups in terms of sleep staging. All groups showed signs of psychological distress, but as expected this was significantly higher in the patients with insomnia associated with a psychiatric disorder. The fact that patients may present with sleep complaints (either insomnia or daytime somnolence) despite essentially normal sleep has clinical implications. Adequate evaluation of sleep complaints and symptomatic treatment plans are discussed

Residual sleepiness after N(2)O sedation: a randomized control trial [ISRCTN88442975]

BACKGROUND: Nitrous oxide (N(2)O) provides sedation for procedures that result in constant low-intensity pain. How long do individuals remain sleepy after receiving N(2)O? We hypothesized that drug effects would be apparent for an hour or more. METHODS: This was a randomized, double blind controlled study. On three separate occasions, volunteers (N = 12) received 100% oxygen or 20% or 40% N(2)O for 30 min. Dependent measures included the multiple sleep latency test (MSLT), a Drug Effects/Liking questionnaire, visual analogue scales, and five psychomotor tests. Repeated measures analysis of variance was performed with drug and time as factors. RESULTS: During inhalation, drug effects were apparent based on the questionnaire, visual analogue scales, and psychomotor tests. Three hours after inhaling 100% oxygen or 20% N(2)O, subjects were sleepier than if they breathed 40% N(2)O. No other drug effects were apparent 1 hour after inhalation ceased. Patients did not demonstrate increased sleepiness after N(2)O inhalation. CONCLUSION: We found no evidence for increased sleepiness greater than 1 hour after N(2)O inhalation. Our study suggests that long-term effects of N(2)O are not significant

The role of healthcare professionals in encouraging parents to see and hold their stillborn baby: a meta-synthesis of qualitative studies.

Background: Globally, during 2013 there were three million recorded stillbirths. Where clinical guidelines exist some recommend that professionals do not encourage parental contact. The guidance is based on quantitative evidence that seeing and holding the baby is not beneficial for everyone, but has been challenged by bereaved parents' organisations. We aim to inform future guideline development through a synthesis of qualitative studies reporting data relevant to the research question; how does the approach of healthcare professionals to seeing and holding the baby following stillbirth impact parents views and experiences? Methods/Findings: Using a predetermined search strategy of PubMed and PsychINFO we identified robust qualitative studies reporting bereaved parental views and/or experiences relating to seeing and holding their stillborn baby (final search 24 February, 2014). Eligible studies were English language, reporting parental views, with gestational loss >20weeks. Quality was independently assessed by three authors using a validated tool. We used meta-ethnographic techniques to identify key themes and a line of argument synthesis. We included 12 papers, representing the views of 333 parents (156 mothers, 150 fathers, and 27 couples) from six countries. The final themes were: "[Still]birth: Nature of care is paramount", "Real babies: Perfect beauties, monsters and spectres", and "Opportunity of a lifetime lost." Our line-of-argument synthesis highlights the contrast between all parents need to know their baby, with the time around birth being the only time memories can be made, and the variable ability that parents have to articulate their preferences at that time. Thus, we hypothesised that how health professionals approach contact between parents and their stillborn baby demands a degree of active management. An important limitation of this paper is all included studies originated from high income, westernised countries raising questions about the findings transferability to other cultural contexts. We do not offer new evidence to answer the question "Should parents see and hold their stillborn baby?", instead our findings advance understanding of how professionals can support parents to make appropriate decisions in a novel, highly charged and dynamic situation. Conclusions: Guidelines could be more specific in their recommendations regarding parental contact. The role of healthcare professionals in encouraging parents to see and hold their stillborn baby is paramount. Parental choice not to see their baby, apprehension, or uncertainty should be continuously revisited in the hours after birth as the opportunity for contact is fleeting and final

Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome

Kabuki syndrome (KS) is a complex multi-system developmental disorder associated with mutation of genes encoding histone-modifying proteins. In addition to craniofacial, intellectual, and cardiac defects, KS is also characterized by humoral immune deficiency and autoimmune disease, yet no detailed molecular characterization of the KS-associated immune phenotype has previously been reported

Coping strategies, stress, physical activity and sleep in patients with unexplained chest pain

BACKGROUND: The number of patients suffering from unexplained chest pain (UCP) is increasing. Intervention programmes are needed to reduce the chest pain and suffering experienced by these patients and effective preventive strategies are also required to reduce the incidence of these symptoms. The aim of this study was to describe general coping strategies in patients with UCP and examine the relationships between coping strategies, negative life events, sleep problems, physical activity, stress and chest pain intensity. METHOD: The sample consisted of 179 patients younger than 70 years of age, who were evaluated for chest pain at the emergency department daytime Monday through Friday and judged by a physician to have no organic cause for their chest pain. The study had a cross-sectional design. RESULTS: Emotive coping was related to chest pain intensity (r = 0.17, p = 0.02). Women used emotive coping to a greater extent than did men (p = 0.05). In the multivariate analysis was shown that physical activity decreased emotive coping (OR 0.13, p < 0.0001) while sex, age, sleep, mental strain at work and negative life events increased emotive coping. Twenty-seven percent of the patients had sleep problems 8 to14 nights per month or more. Permanent stress at work during the last year was reported by 18% of the patients and stress at home by 7%. Thirty-five percent of the patients were worried often or almost all the time about being rushed at work and 23% were worried about being unable to keep up with their workload. Concerning total life events, 20% reported that a close relative had had a serious illness and 27% had reasons to be worried about a close relative. CONCLUSION: Our results indicated that patients with more intense UCP more often apply emotive coping in dealing with their pain. Given that emotive coping was also found to be related to disturbed sleep, negative life events, mental strain at work and physical activity, it may be of value to help these patients to both verbalise their emotions and to become cognizant of the influence of such factors on their pain experience

Comparative Study of Bunch Length And Arrival Time Measurements at Flash

Diagnostic devices to precisely measure the longitudinal electron beam profile and the bunch arrival time require elaborate new instrumentation techniques. At FLASH, two entirely different methods are used. The bunch profile can be determined with high precision by a transverse deflecting RF structure, but the method is disruptive and does not allow to monitor multiple bunches in a macro-pulse train. It is therefore complemented by two non-disruptive electrooptical devices, called EO and TEO. The EO setup uses a dedicated diagnostic laser synchronized to the machine RF. The longitudinal electron beam profile is encoded in the intensity profile of a chirped laser pulse and analyzed by looking at the spectral composition of the pulse. The second setup, TEO, utilizes the TiSa-based laser system used for pump-probe experiments. Here, the temporal electron shape is encoded into the spatial dimension of the laser pulse by an intersection angle between the laser and the electron beam at the EO-crystal. In this paper, we present a comparative study of bunch length and arrival time measurements performed simultaneously with all three experimental techniques

The relationships between exogenous and endogenous antioxidants with the lipid profile and oxidative damage in hemodialysis patients

Background: We sought to investigate the relationships among the plasma levels of carotenoids, tocopherols, endogenous antioxidants, oxidative damage and lipid profiles and their possible effects on the cardiovascular risk associated with hemodialysis (HD) patients. Methods: The study groups were divided into HD and healthy subjects. Plasma carotenoid, tocopherol and malondialdehyde (MDA) levels, as well as erythrocyte reduced glutathione (GSH), were measured by HPLC. Blood antioxidant enzymes, kidney function biomarkers and the lipid profiles were analyzed by spectrophotometric methods. Results: Plasma lycopene levels and blood glutathione peroxidase (GPx) activity were significantly decreased in HD patients compared with healthy subjects. Total cholesterol, low-density lipoprotein cholesterol (LDL-c), creatinine, urea, MDA, GSH, superoxide dismutase (SOD) and catalase (CAT) were significantly increased in HD (p < 0.05). Lycopene levels were correlated with MDA (r = -0.50; p < 0.01), LDL-c (r = -0.38; p = 0.01) levels, the LDL-c/HDL-c index (r = -0.33; p = 0.03) and GPx activity (r = 0.30; p = 0.03). Regression models showed that lycopene levels were correlated with LDL-c (β estimated = -31.59; p = 0.04), while gender was correlated with the TC/HDL-c index and triglycerides. Age did not present a correlation with the parameters evaluated. GPx activity was negatively correlated with MDA levels and with the LDL-c/HDL-c and CT/HDL-c indexes. Conclusions: Lycopene may represent an additional factor that contributes to reduced lipid peroxidation and atherogenesis in hemodialysis patients