An estimate of the prevalence of autism in tuberous sclerosis (TSC) was made by interviewing the parents of 21 children between ages 3 and 11 ascertained during a previous population study of the condition in the West of Scotland. Five of the children (24%) were rated autistic and a further four (19%), all of whom were girls, has socially impaired behavior categorized as pervasive developmental disorder, without fulfilling all the DSM-III-R criteria for autism. One further boy had disruptive attention-seeking behavior that had excluded him from his, normal school. The estimated prevalence from this study of autism in TSC is 1 in 4 children in general, and 1 in 2 of those with mental retardation. Tuberous sclerosis could be a significant cause of autism and pervasive developmental disorders, particularly in girls.This work was supported by a grant from the Tuberous Sclerosis Association of Great Britain. The authors thank Jennifer Dennis for discussions during the preparation of the questionnaire and for collaboration on validating the recorded interviews. 相似文献
In Wales, predictive testing for Huntington's disease (HD) has not been offered proactively to families and uptake of testing is low in comparison to other centres. Little is known of those not requesting testing, particularly those not in direct contact with the genetics service. This study examined differences between a cohort of 22 test applicants and a random group of 32 'non-requesters', drawn from the South Wales HD register. Respondents were interviewed by means of a semi-structured schedule in their own homes. The study groups differed significantly on a number of variables including: knowledge of the availability of testing; perceived attitudes of family members and significant others to testing; length of knowledge and perceived stressfulness of being at risk; and perceived ability to cope with an unfavourable result. Overall, knowledge of testing procedures was poor and at-risk individuals' understanding of genetic terminology was at odds with scientific distinctions. Discussion focuses on the organisational and psychological factors associated with lack of knowledge of the availability of testing and the interpretation of reported coping capacities. 相似文献
Studies have found naltrexone useful in the treatment of diseases other than opiate addiction in which endogenous opioids presumably play a role, such as alcoholism and eating disorders. Some of these studies involve high doses (100–200 mg bid). Because investigational studies with high doses (300 mg/day) reported clinically significant increases in liver enzyme levels, the authors measured a spectrum of liver function parameters in response to high doses of naltrexone in a double-blind, crossover trial (100 mg bid) followed by an open-label period (200 mg bid). They observed no adverse clinical or laboratory changes in liver function in association with high-dose naltrexone therapy in eating disorders. 相似文献
In summary, we believe that the endo-otoprobe system offers several advantages to the otologist. The system is safe and relatively inexpensive. The probes are designed to provide tactile feedback similar to that of standard otologic instruments and avoid the use of a cumbersome micromanipulator. There are currently shapes that are similar to a Rosen needle, Shea pick, and bayonet. We hope most otologists will find that one of the endo-otoprobes fits their particular style of surgery. 相似文献
The effects of nordihydroguaiaretic acid (NDGA), a widely used lipoxygenase inhibitor, were examined on voltage-activated Ca2+ channel currents in GH3 and AtT-20 pituitary cells. NDGA (10-100 microM) produced a reversible, dose-dependent inhibition of Ca2+ channel currents, with half-maximal inhibition occurring at 18.6 microM. Inhibition by NDGA developed relatively slowly, did not exhibit use dependence or voltage dependence, and did not require access of NDGA to the extracellular domain of the Ca2+ channel. The maximum inhibition of macroscopic currents by 30 microM NDGA was equivalent in the presence of 5 and 50 mM extracellular Ca2+ and 5 mM Ba2+. NDGA inhibited Ca2+ channel currents in excised, outside-out patches, in the absence of intra- and extracellular Ca2+ (with Ba2+ as the charge carrier), and following preincubation of the cells with the phospholipase A2 inhibitor 4-bromophenacylbromide. Of five other lipoxygenase inhibitors tested, only one inhibited Ca2+ currents. These results suggest that NDGA inhibits Ca2+ channel currents by a mechanism distinct from that of other known Ca2+ channel antagonists and that, when influx of Ca2+ through voltage-gated channels is involved, inhibition of Ca2(+)-dependent cell functions by NDGA (greater than 10 microM) may be independent of effects on arachidonic acid metabolism. 相似文献
Background: This study was designed to identify neuroanatomical locations of propofol's effects on episodic memory by producing minimal and maximal memory impairment during conscious sedation. Drug-related changes in regional cerebral blood flow (rCBF) were located in comparison with rCBF increases during a simple word memory task.
Methods: Regional cerebral blood flow changes were assessed in 11 healthy volunteers using H215O positron emission tomography (PET) and statistical parametric mapping (SPM99) at 600 and 1,000 ng/ml propofol target concentrations. Study groups were based on final recognition scores of auditory words memorized during PET scanning. rCBF changes during propofol administration were compared with those during the word memory task at baseline.
Results: Nonoverlapping memory effects were evident: low (n = 4; propofol concentration 523 +/- 138 ng/ml; 44 +/- 13% decrement from baseline memory) and high (n = 7; 829 +/- 246 ng/ml; 87 +/- 6% decrement from baseline) groups differed in rCBF reductions primarily in right-sided prefrontal and parietal regions, close to areas activated in the baseline memory task, particularly R dorsolateral prefrontal cortex (Brodmann area 46; x, y, z = 51, 38, 22). The medial temporal lobe region exhibited relative rCBF increases. 相似文献
OBJECTIVES: The impact of command hallucinations on patients and the determinants of patients' compliance with them are still poorly understood. The extant literature is also divided on their association with violence. This study aimed to establish the prevalence of command hallucinations and to identify the factors that affect compliance with the commands, together with patients' coping methods. METHODS: We recruited 50 consecutive male and 50 consecutive female schizophrenia inpatients who reported hearing voices in the 6 months prior to admission. We interviewed these patients, using a semistructured questionnaire. We collected information on the contents of their auditory hallucinations and their coping methods. RESULTS: Of the patients, 53 (53%) reported command hallucinations. Of these 53 patients, 58% were women and 48% were men; 62% reported complying with the commands. They were also more likely to comply with nonviolent commands. A history of self-harm predicted compliance. Those patients who did not comply with the commands adopted various methods of coping, of which praying was the most common. CONCLUSION: Command hallucinations are common in patients with schizophrenia. Patients with a history of self-harm need closer monitoring because they may be more likely to comply with these hallucinations. Assessment should also include the patient's own coping strategies, which can be incorporated into the treatment. 相似文献