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The work was done to facilitate the clinical diagnosis and understanding of Rett syndrome (RS) by grouping the symptoms and signs in areas of neurological disfunction. This is a retrospective, longitudinal and observational study of 30 young females whose clinical manifestations were grouped using a modified Fitzgerald et al. scale for motor and behavior evaluation of patients with RS. All patients were videotaped at least during one or several appointments during their follow-up for a period of 1 to 10 years. All patients and videotapes were reviewed independently by the three authors. We followed the clinical diagnostic criteria of classic RS, and grouped the symptoms and signs in 12 groups of clinical phenomenology that represented specific areas of central or peripheral nervous system involvement: 1) dementia syndrome (fronto-temporo-parietal and limbic dysfunction); 2) extrapyramidal syndrome (basal ganglia dysfunction); 3) respiratory function disorders (brain stem reticular system disfunction); 4) sleep disorders (reticular system and limbic dysfunction); 5) epilepsy (cortico-subcortical paroxysmal bioelectrical dysfunction); 6) lower motor neuron syndrome (neuropathic dysfunction and/or peripheral neuropathy); 7) body growth retardation; 8) tonic-postural skeletal deformities; 9) deficit of pain sensation (nociceptive deficit); 10) pseudobulbar dysfunction; 11) autonomic dysfunction and 12) others (microcephaly and bruxism). In clinical practice, we recommend the use of this grouping of symptoms and signs because it makes facilities the clinical study, definition of areas of dysfunction and diagnosis of the patient with RS.
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PMID:[The clinical phenomenology of Rett's syndrome]. 1020 8

Adult motor neuron disease (amyotrophic lateral sclerosis [ALS]) is a neurodegenerative disorder characterized by loss of motor neurons in the cortex, brain stem, and spinal cord, manifested by upper and lower motor neuron signs and symptoms affecting bulbar, limb, and respiratory musculature. Clinically, the disease course is characterized by progressive weakness, atrophy, spasticity, dysarthria, dysphagia, and respiratory compromise, ultimately resulting in death or mechanical ventilation in the vast majority of patients. Patterns of presentation and pathological features of the disease, along with clinical and electrophysiologic criteria for diagnosis, are discussed in this review. Since 8% to 22% of patients survive more than 10 years without ventilator use, meticulous medical and rehabilitation management is extremely important to ensure optimal health and quality of life in these patients. Major issues in the care of individuals with ALS include weakness and spasticity, impairments in activities of daily living and mobility, communication deficits and dysphagia in those with bulbar involvement, respiratory compromise, fatigue and sleep disorders, pain, and psychosocial distress. Research in ALS changes rapidly, but is currently focused on potential etiologic factors such as glutamate excitotoxicity, role of oxidative stress, autoimmunity to calcium channels, and cytoskeletal abnormalities, as well as related treatment initiatives including glutamate modulators, neurotrophic factors, antioxidants, antiapoptotic factors, and gene therapy. Recently, mutations in the gene encoding Cu/Zn superoxide dismutase were identified in a subset of familial ALS patients. Riluzole, a glutamate antagonist and Na-channel blocker, became the only drug currently approved for treatment of ALS after studies showed a small positive effect on survival. Until a definitive treatment or cure for ALS is found, the multifaceted rehabilitation team approach remains the best hope for improving health and survival in this devastating illness.
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PMID:Evaluation and rehabilitation of patients with adult motor neuron disease. 1045 74

In order to investigate the long-term effect of clinical rehabilitation measures as well as the additional effect of prescription of a special pillow in patients suffering from chronic cervicobrachialgia a total of 149 patients was investigated. All patients suffered from chronic cervicobrachialgia and were admitted for rehabilitative treatment in the orthopaedic Elfenmaar-Klinik of Bad Bertrich. For a four-week period the patients were treated with physical therapy including gymnastics, electrotherapy, thermotherapy, and massage. Additionally they underwent a health-promoting programme specially designed for patients with spondylopathia. The patients were randomly divided into two groups, one receiving a special pillow (Curavario, Pala-Medic-Company) for the use during and after the rehabilitative treatment (n = 76 or n = 73, respectively). For two weeks before the treatment, during the four-week treatment period and for two weeks after the treatment the patients had to fill in a questionnaire, comprising among others six questions on the intensity of their cervicobrachialgic symptoms (pain-intensity [local pain, radiation of pain], muscular tenseness, paraesthesia and sleep disorders [caused by pain or paraesthesia]). Three, six, and nine month after the treatment period the patients received a similar questionnaire. Immediately after the treatment period a significant reduction of mean pain intensity and muscle tenseness (p < 0.001; Rep.-Mes.-ANOVA) was found. At the same time significantly lower frequencies of pain radiation and sleep disorders caused by pain or paraesthesia (p < 0.001; chi-square-test) were found. During the following nine months the intensity of the symptoms slightly re-increased, however, all parameters were still reduced nine months after treatment compared to the values before treatment (p < 0.01). Before and during the treatment no difference between the two groups could be detected, however, the follow-up showed significantly lower scores of pain intensity (p < 0.05; Student-t-test) and sleep disorders (p < 0.01; chi-square test) in the patients who had received the special pillow. It is concluded that the rehabilitative treatment is effective in patients suffering from chronic cervicobrachialgia and that the complaints in the post-treatment period can be reduced by prescription of special pillows.
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PMID:[Prospective study of the long-term effectiveness of inpatient rehabilitation of patients with chronic cervicobrachial syndromes and the effect of prescribing special functional pillows]. 1050 91

Surgery is a high-stakes stressor with possible consequences that include death, pain, disfigurement, economic losses, and alterations in social roles. Often, the most disturbing complications to surgeons and patients are psychological rather than physical. Ineffective management of psychological complications of surgery can have profound consequences, resulting in delayed recuperative times, delayed return to work, poor patient compliance, dissatisfaction with the surgical outcome, hostility toward surgeons, and anxiety. The purpose of this study was to investigate in a large randomized group of plastic surgery practices the relative incidence of negative psychological outcomes and to compare these with the incidence of adverse physical outcomes to gain a greater appreciation of the relative magnitude of each type of perioperative complication. The study design was a descriptive, correlational survey that assessed psychological complications reported by plastic surgeons. The Plastic Surgery Questionnaire was sent to 702 randomly selected board-certified plastic surgeons. The sample consisted of 281 board-certified plastic surgeons (40 percent response rate). The study instrument was found to be highly reliable, with inter-item Cronbach's alpha r = 0.85. The demographics were representative of the specialty as a whole. It was found in general that psychological complications were much more prevalent than physical problems such as hematoma or infection. Anxiety reactions were commonly encountered by 95.4 percent of surgeons; disappointment (96.8 percent), depression (95.0 percent), nonspecific physical complaints (92.2 percent), and sleep disorders (88.5 percent) were the next most commonly reported complications. Most surgeons (75.8 percent) reported that screening for depression was important, but only 18.8 percent identified screening for post-traumatic stress disorder as important, even though 86 percent had diagnosed post-traumatic stress disorder in their postoperative patients. Psychological complications occur at rates equal to or greater than those of physical complications in the plastic surgery practice. Patients who experience physical complications are much more likely to simultaneously experience psychological complications. Patients with preexisting psychological conditions are more at risk for postoperative psychological complications. Disappointment, anxiety, and depression were the most frequently seen psychological complications. Nursing personnel are perceived by plastic surgeons to have the primary role in screening patients for pertinent psychological history. Directed research should be undertaken to determine which treatment regimens are most effective in reducing preoperative psychological complications. Controlled clinical trials of pharmaceuticals and alternative therapies must be designed and carried out in a prospective manner to establish the optimum treatment for alleviation of adverse emotional consequences of surgery. The next frontier for the specialty is to actively and consciously investigate and improve our patients' emotional and psychological results from surgery.
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PMID:Psychological complications in 281 plastic surgery practices. 1084 40

In order to identify and analyse the factors associated with stress for the parents during day surgery, we performed a survey analysis of 568 parents whose children underwent surgery consecutively during an 18-month period. Of 368 parents who returned the questionnaire, (follow up rate=65%), 16% experienced the stress associated with day surgery as moderate to severe. The following factors had a significant positive association with the amount of stress: feeling of insufficient preparation (odds ratio; 95% confidence interval) 3. 34 (1.36-8.26; P=0.002), insecurity in nursing care at home 3.36 (1. 43-11.01; P=0.01), problems at home such as fever, vomiting, sleep disorders and others 3.15 (1.72-5.8; P=0.0007), problems with postoperative pain at home 2.43 (1.38-4.3); P=0.008), speaking a foreign language 2.28 (1.08-4.78); P < 0.0001) and no previous surgery 1.31 (0.76-2.27); P=0.03). Analysing these factors showed that often not the problems per se, but rather the insecurity in dealing with them contributed to the experienced stress. Conclusion In order to improve the quality of health care, more pronounced attention has to be given to the parents needs and expectations.
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PMID:Quality assurance in day surgery: do we do enough for the parents to prevent stress? 1059 75

The development of exceptionally potent inhibitors of fatty acid amide hydrolase (FAAH), the enzyme responsible for the degradation of oleamide (an endogenous sleep-inducing lipid), and anandamide (an endogenous ligand for cannabinoid receptors) is detailed. The inhibitors may serve as useful tools to clarify the role of endogenous oleamide and anandamide and may prove to be useful therapeutic agents for the treatment of sleep disorders or pain. The combination of several features-an optimal C12-C8 chain length, pi-unsaturation introduction at the corresponding arachidonoyl Delta(8,9)/Delta(11,12) and oleoyl Delta(9,10) location, and an alpha-keto N4 oxazolopyridine with incorporation of a second weakly basic nitrogen provided FAAH inhibitors with K(i)s that drop below 200 pM and are 10(2)-10(3) times more potent than the corresponding trifluoromethyl ketones.
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PMID:Exceptionally potent inhibitors of fatty acid amide hydrolase: the enzyme responsible for degradation of endogenous oleamide and anandamide. 1080 67

Sleep disorders have been reported as a frequent problem in dialysis patients. However, only one paper has compared the prevalence and possible causes of this complication in peritoneal (PD) and haemodialysis (HD) patients. We surveyed 84 PD and 87 HD patients about disordered sleep using a self-administered questionnaire. Forty-nine percent of PD and 56% of HD patients reported problems sleeping. These problems were rated as severe by 29 PD and 22 HD patients. Type of disturbances involved delayed sleeping (13 PD and 32 HD, p < 0.005), interrupted sleep (32 PD and 44 HD) and early morning awakening (25 PD and 37 HD). The number of hours of sleep varied widely among patients: it was 5 and 21 minutes in PD patients with sleep disorders and 7 and 37 min in PD pts without such problems. No statistically significant relationship was evidenced between sleep disorders and age, sex, body weight, obesity, duration of dialysis, dialysis dose, self-assessed sadness, anxiety, worry, pain, pruritus, dyspnoea, restless leg syndrome, use of cigarettes, caffeine, or sleeping pills. In conclusion, sleep disorders are a frequent problem in both PD and HD patients. Apparently the relationship with demographics, dialysis dose, lifestyle and personality traits is poor. The possible role of other causes should be investigated.
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PMID:Sleep disorders in peritoneal and haemodialysis patients as assessed by a self-administered questionnaire. 1083 57

This study investigated the relationships between insomnia and select demographic, injury and psychosocial variables in post-acute, traumatic brain injury. Clinical assessment of sleep and mood was undertaken via objective measures and a diagnostic interview among 91 consecutive brain injury admissions to an outpatient neurorehabilitation clinic. No associations between insomnia and gender, education, age, and time since injury were found. A logistic regression model of insomnia prediction based upon the Beck Depression Inventory (BDI), self-reported pain disturbance, litigation and Glasgow Coma Score (GCS) correctly classified 87% of the sample with respect to the presence or absence of insomnia; however, depression and injury severity were the only variables that made a significant unique contribution to the prediction of insomnia. It is concluded that among post-acute traumatic brain injury patients, insomnia is linked with both the presence of depression and a history of milder brain injuries. This suggests that the determinants of insomnia may differ from the acute to the post-acute phase, with neurological factors playing a primary role early in the recovery process and psychosocial factors ascending later. Therefore, assessment and treatment of insomnia must give careful attention to the larger psychosocial context in which the sleep disorder emerges, particularly to role of emotional disturbance.
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PMID:Factors associated with insomnia among post-acute traumatic brain injury survivors. 1091 47

Autonomic dysfunction, neuropsychiatric problems, axial signs and sleep disorders are common complications of advanced Parkinson's disease (PD). Urinary disturbance due to detrusor hyperreflexia and iatrogenic orthostatic hypotension are prominent dysautonomic signs. Depression and anxiety are frequent but can occur exclusively during off periods. A fronto-sub cortical dementia occurs in 30% of PD patients, but anti-parkinsoniens drugs (APD) can cause hallucinations even in non demented PD patients. Axial signs, such as freezing, postural instabily or dysarthria become doparesistant. Insomnia, REM sleep disorders. At least, pain is very frequent. Exact analysis of these signs is important for an adequate treatement: most of them are improved by APD but some of them, like orthostatic hypotension or hallucinations, are increased by these drugs.
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PMID:[Other symptoms of advanced stage Parkinson's disease]. 1091 48

INTRODUCTION: Snoring is a common cause of marital disharmony and social embarrassment. Obstructive sleep apnoea (OSA) have further impact on Quality of Life (QoL). AIMS: First, to compare the impact of snoring and OSA on QoL; second, to assess the impact of laser palatoplasty (LAUP) on QoL in snorers. METHODS: We conducted a prospective cohort comparison of 191 snorers (mean age 46 years; 132 men, 59 women), 57 patients with OSA (mean age 47 years; 49 men, 8 women), and 105 patients, at a mean of 12 months (range, 4-24 months) after LAUP (mean age 45 years; 82 men, 23 women). All completed the Nottingham Health Profile (NHP) and the results were compared with established NHP population norms. RESULTS: The results are shown in Table 1. CONCLUSIONS: This is the largest QoL study of snorers to date and shows that both snoring and OSA have clear impacts on all six NHP domains. The magnitude of the impact in snoring approaches that for OSA for most parameters. The impact of OSA on the sleep domain in men is significantly higher than that of snoring. Energy and emotional reaction domains are significantly improved by LAUP in both sexes, to levels approaching those in the normal population. Also pain, sleep, social isolation and mobility in habitual snorers was helped by surgery. The NHP generic QoL health status measure is a useful tool for the assessment of sleep disorders.
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PMID:The quality of life impact of snoring and the effect of laser palatoplasty 1112 3


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