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We here present the case of a patient with a congenital myasthenic syndrome (CMS) due to pathogenic variants in the RAPSN gene. During childhood he experienced recurrent episodes of respiratory failure during respiratory infections. This and other cases were reported as isolated dystrophy of the diaphragmatic musculature. In adulthood, whole exome sequencing revealed two heterozygous pathogenic variants in the RAPSN gene. This led to the revision of the diagnosis to rapsyn CMS11 (OMIM:616326, MONDO:0014588). EMG, muscle ultrasound and the revision of muscle biopsies taken in childhood support this diagnosis. After the revision of the diagnosis, treatment with pyridostigmine was started. This resulted in a reduction of fatigability and an improvement in functional abilities and quality of life.

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BACKGROUND: GPs with a special interest and with specific training in palliative medicine (GP advisors) supported professional carers (mostly GPs) through a telephone advisory service. Each telephone call was formally documented on paper and subsequently evaluated. OBJECTIVE: Data from 2003 were analysed independently to reveal how often and in what way palliative sedation and euthanasia were discussed. METHODS: The telephone documentation forms and corresponding evaluation forms of two GP advisors were systematically analysed for problems relating to the role of sedation and/or euthanasia both quantitatively and qualitatively. RESULTS: In 87 (21%) of 415 analysed consultations, sedation and/or euthanasia were discussed either as the presenting question (sedation 26 times, euthanasia 37 times and both 10 times) or arising during discussion (sedation 11 times and euthanasia three times). Qualitative analysis revealed that GPs telephoned to explore therapeutic options and/or wanted specific information. Pressure on the GP (either internal or external) to relieve suffering (including shortening life by euthanasia) had often precipitated the call. On evaluation, 100% of the GPs reported that the advice received was of value in the patient's care. CONCLUSION: GPs caring for patients dying at home encountered complex clinical dilemmas in end-of-life care (including palliative sedation therapy and euthanasia). They valued practical advice from, and open discussion with, GP advisors. The advice often helped the GP find solutions to the patient's problems that did not require deliberately foreshortening life.

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The collinear and anticollinear interaction of guided light with magnetostatic forward volume waves in yttrium iron garnet epitaxial thin films was investigated experimentally. We set out to demonstrate double-beam modulation with the above interaction. This was not achieved, but the simultaneous occurrence of the above effects was used to expand the magnetostatic wave-optical interaction bandwidth.

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Parental rearing styles are often found to be related to adult psychological disorders. In general, conclusions are based on the data of retrospective studies, in which patients' memories of their parents' behaviour are investigated. However, it has been widely recognized that memories may be sensitive to current mood states. The possible mood sensitivity of autobiographic memories is a powerful alternative explanation of the relationship commonly found between parental rearing styles and psychopathology, with implications for the hypothesis of early parenting as a vulnerability factor in the aetiology of such disorders. The present study examined whether memories of parental rearing styles are influenced by present mood. To this aim, both mood and memories of parental rearing styles were assessed on two occasions in a sample of 315 healthy subjects from the general community (Study 1) and in a group of 46 socially phobic patients (Study 2). Results showed that memories of early parenting remained quite stable, even in the face of significant and considerable changes in anxiety, depression, and hostility. The theoretical and practical implications of these findings are discussed.

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Factors related to children's friendships have been empirically related to social development and social status. Identifying specific factors related to peer status is important for teachers and counselors in recognizing children at risk for behavior and emotional problems. 370 teachers' global opinions about the importance of factors associated with peer status were assessed through a statewide survey. Analysis indicated that social skills, physical attractiveness, and outgoingness were the most frequently cited factors contributing to students' social status. Implications for research and practice are discussed.

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An alignment technique has been developed for coupling to optical modes in a waveguide using right angle prisms.

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A radiochemical assay has been developed for a NADP+-specific gamma-glutamate semialdehyde dehydrogenase from rat intestinal epithelial cells. The spectrophotometric assay utilized to measure the enzyme in bacterial cell homogenates is not sensitive enough for homogenates from rat mitochondria, which require an assay that can measure as little as 0.5 nmol NADPH formed/min/ml extract. The assay described here is sensitive to 0.1 nmol product formed/min/ml of extract and employs the use of [3H]pyrroline 5-carboxylate which is phosphorylated and oxidized by the enzyme to gamma-[3H]glutamyl phosphate, a product that decomposes to [3H]pyrrolidone 5-carboxylate. The latter product is separated from the substrate by ion-exchange chromatography. In order to correct for any product loss during separation by ion-exchange [14C]pyrrolidone 5-carboxylate is added as an internal standard to the deproteinized assay mixture. Under the assay conditions described mammalian gamma-glutamate semialdehyde dehydrogenase activity is linear with respect to time and protein concentration. Comparison between the kinetic parameters reported for the bacterial enzyme and those reported here for the mammalian enzyme indicate similarities in the pH optima as well as a requirement for phosphate. Kinetic studies on mammalian enzyme yield apparent Km values of 1.8 mM for pyrroline 5-carboxylate, 0.2 mM for NADP+, and 11.3 mM for phosphate.

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The purpose of this study was to assess the long-term impact of providing training in mnemonics to a small group of elderly adults. We wished to determine if such training could be utilized effectively some three years (34 months) after initial training. Nine of ten original subjects consented to take part in the retesting exercise. Ages ranged from 66 to 85 yrs (M = 73.5). Our results demonstrate that though loci generally were available for use in remembering a new word list, they usually were not effectively utilized to enhance recall. Our participants also agreed that the training they had received was useful. In spite of this, a majority of the respondents did not use the method of loci after training. However, adults of all ages often do not utilize mnemonics training once its effectiveness has been demonstrated. Therefore, creating effective cognitive interventions may require that we adopt techniques that have been shown to improve compliance in other areas of healthy living.

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Age-separated rat erythrocytes were exposed to pentoxifylline, a dimethylxanthine derivative which increases erythrocyte deformability. A comparison of drug-induced effects in young and old erythrocytes yielded age-specific alterations in: (1) accumulation of intracellular Ca2+; (2) membrane protein phosphorylation; (3) ATP concentrations; and (4) membrane associated protein kinase activity. The effect of Ca2+ accumulation and membrane protein phosphorylation appears to be biphasic. Low drug concentrations (0.5-2.5 mM) reduced intracellular Ca2+ and increased membrane protein phosphorylation, whereas higher concentrations (4.0-5.0 mM) increased Ca2+ levels and reduced membrane protein phosphorylation. Young cells exhibited increased ATP levels over the whole range of pentoxifylline tested; however, older erythrocytes demonstrated higher ATP levels at 5.0 mM drug only. Membrane-associated protein kinase activity was enhanced 10% in young erythrocytes at 1.0 mM pentoxifylline and decreased to 30% of control values at 4.0 and 5.0 mM drug. Protein kinase of old erythrocytes exhibited gradual inhibition over the entire drug concentration range. In general, younger erythrocytes appear to be more responsive to pentoxifylline exposure. Based on these studies, it appears that the ageing of the erythrocyte and loss of deformability in vivo may be a consequence of increased Ca2+ entry into the cell.

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The aim of this study was to obtain a better insight into the distribution of active and passive electrical properties of the membranes of al olfactory sensillum. Such a sensillum is composed of three accessory cells which envelope the somata of two receptor neurons which have long (300 micron) dendrites that are incorporated in cuticular protuberances (hairs). An electrical equivalent circuit of this organ is reconstructed which is based upon the response of sensilla to current transients, the shape of extracellularly recorded spikes, and the effects of lesions on these signals. A strong influence of membrane capacitances on the overall response and on the shape of spikes becomes apparent. From the combination of electrical and morphometric data it follows that the resistance of the apical membranes of the accessory cells in much higher than the resistance of their basolateral membranes. Neither in simultaneous tip and sidewall recordings nor in the hair (dendrite) amputation experiments could antidromic propagation of action potentials into the dendrite be demonstrated. The commonly accepted retrograde propagation explanation for the biphasic waveform of the spike is, therefore, rejected. Dendrite amputation experiments showed that the impedance of the dendrite does not limit the spike amplitude and that the dendrite contributes slightly to the duration of the positive phases of spikes. Both of these observations indicate that the dendrite is also involved in the generation of the leading phase of the spike. Consequently the proposition is made that action potentials are initiated at a dendritic location.

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This study was designed to assess the impact and generalization of mnemonics training in older adults. We attempted to maximize the task's ecological validity and the motivation of participants. Ten older adults were initially tested in a standard free recall task. All participants were next trained to use the method of loci. This technique was then used to remember a grocery list while purchasing groceries. Four weeks later, a second grocery shopping test was conducted. After another four weeks, a second free recall test was given. Participants' memory performance was recorded in each activity and they reported mnemonic strategies they had used. Participants exhibited near perfect performance in the grocery shopping tasks, but many modified their strategies before the second shopping session. Participants who did not modify their strategies were more likely to exhibit long term maintenance of training (retention of strategy and improved performance) in the final free recall task. Factors associated with changes in a training program's impact over time, and the need to survey participants' reported strategy utilization, are discussed.

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Behavior modification, designed to change behavior, is a social intervention. While the ethical considerations of all types of social intervention would appear similar, behavior modification is often used as the forum for discussing them. Such frequent use creates the impression that the field is riddled with numerous, unique ethical problems, which in turn contribute to an already questionable image. A variety of factors which have led to the use of behavior modification in this manner and the consequences of this approach are discussed.

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A portion of the empirical literature on training mentally retarded people to use mnemonic strategies was reviewed. Specific topics examined included strategy maintenance, strategy generalization, and metamemory, with emphasis on the implications of this research for the education of retarded students. We concluded that although significant gains have resulted from the past two decades of research, many questions of educational significance remain unanswered. With the restrictions placed by recent research in mind, we suggested that this area can be of immediate benefit to special educators.

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