Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q

The epilepsies are a group of disorders characterised by recurrent seizures caused by episodes of abnormal neuronal hyperexcitability involving the brain. Up to 60 million people are affected worldwide and genetic factors may contribute to the aetiology in up to 40% of patients. The most common human genetic epilepsies display a complex pattern of inheritance. These are categorised as idiopathic in the absence of detectable structural or metabolic abnormalities. Juvenile myoclonic epilepsy (JME) is a distinctive and common variety of familial idiopathic generalised epilepsy (IGE) with a prevalence of 0.5-1.0 per 1000 and a ratio of sibling risk to population prevalence (lambda(s)) of 42. The molecular genetic basis of these familial idiopathic epilepsies is entirely unknown, but a mutation in the gene CHRNA4, encoding the alpha4 subunit of the neuronal nicotinic acetylcholine receptor (nAChR), was recently identified in a rare Mendelian variety of idiopathic epilepsy. Chromosomal regions harbouring genes for nAChR subunits were therefore tested for linkage to the JME trait in 34 pedigrees. Significant evidence for linkage with heterogeneity was found to polymorphic loci encompassing the region in which the gene encoding the alpha7 subunit of nAChR (CHRNA7) maps on chromosome 15q14 (HLOD = 4.4 at alpha = 0.65; Z(all) = 2.94, P = 0.0005). This major locus contributes to genetic susceptibility to JME in a majority of the families studied.     

Effect of exercise and dietary restraint on energy intake of reduced-obese women

Self-selected food intake of 15 reduced-obese women living in a metabolic ward was studied for 14 consecutive days to determine the effect of exercise and other metabolic and behavioral variables on energy intake. A choice of prepared food items were offered at breakfast, lunch and dinner, and a variety of additional food items were available continuously 24 h/day. Subjects performed either moderate intensity aerobic exercise (A-EX) (n = 8) expending 354 +/- 76 kcal/session or low intensity resistance weight training (R-EX)(n =7) expending 96 +/- kcal/session, 5 days/week. Mean energy intakes (kcal/day, +/- SEM) of the exercise groups were similar: 1867 +/- 275 for A-EX, 1889 +/- 294 for R-EX. Mean energy intakes of individuals ranged from 49 to 157% of the predetermined level required for weight maintenance. Resting metabolic rate per kg 0.75 and the Eating Inventory hunger score contributed significantly to the between subject variance in energy intake, whereas exercise energy expenditure did not. Regardless of exercise, eight women consistently restricted their energy intake (undereaters), and seven other consumed excess energy (overeaters). Overeaters were distinguished by higher Eating Inventory disinhibition (P = 0.023) and hunger (p = 0.004) scores. The overeaters' diet had a higher fat content 34 +/- 1% (p = 0.007). Also, overeaters took a larger percentage of their daily energy, than that of undereaters, 27 +/- 1 energy intake in the evening, 13 +/- 2%, compared to undereaters, 7 +/- 1% (p = 0.005). We conclude that the Eating Inventory is useful for identifying reduced-obese women at risk of overeating, and these individuals may benefit from dietary counseling aimed at reducing fat intake and evening snacking.     

Orbital volume measurement in the management of pure blowout fractures of the orbital floor

With the recent advent of accurate orbital volume assessment by computed tomography, a retrospective analysis was made of 31 patients with 'pure' blowout fracture of the orbital floor, managed either surgically or conservatively, to determine whether orbital volume measurement could provide an additional parameter of use in the management of such fractures. There was a significant difference in orbital volume discrepancy between patients managed surgically or conservatively suggesting that this investigation may be of use in decision making on surgical intervention in patients with orbital blowout fractures.     

Cell-associated viral RNA expression during acute infection with HIV type 1

The mechanism of decline in viremia following acute infection with HIV is unknown. To characterize this process virologically, the expression of viral RNAs was analyzed in samples of peripheral blood mononuclear cells (PBMCs) from a patient who experienced a 100-fold decline in plasma viremia over a 13-day period prior to the initiation of antiretroviral therapy. Cell-associated viral RNA declined in association with the decline in plasma virus. During the initial 7 days of observation, plasma viremia declined more than 10-fold with no change in the ratio of unspliced to multiply spliced mRNAs. The efficiency of viral gene expression did not decline during the study period and varied from 380 to 2800 unspliced RNA copies per productively infected cell. Together, these data indicate no change in the relative proportion of cells in late- and early-stage gene expression during the initial decline and provide evidence against shortening of the viral replication cycle by immune surveillance. However, the prevalence of productively infected cells declined markedly during the 13 days of observation, from 1 in 250 to 1 in 25,000 PBMCs. These data are compatible with depletion of available target cells during the initial decline in viremia. As the level of plasma virus stabilized after 8 days of observation, the ratio of unspliced to multiply spliced mRNAs rose; this rise was due to a relatively greater decline in multiply spliced mRNA. These data suggest the possible onset of a blockade to new infection events (for example, by neutralizing antibody or chemokines), causing an increase in the relative proportion of cells in late-stage gene expression. They may also be explained, however, by the persistence of cell-associated virions together with the near disappearance of productively infected cells from the circulation.     

Radioimmunoscintigraphy with In-111-labeled capromab pendetide predicts prostate cancer response to salvage radiotherapy after failed radical prostatectomy

PURPOSE: We investigated the ability of In-111-capromab pendetide to separate patients who have failed radical prostatectomy into categories of those who would versus those who would not respond to salvage radiotherapy. METHODS: Prostate-specific antigen (PSA) levels in 32 men with prostate cancer who had failed radical prostatectomy and had undergone a whole-body In-111-capromab pendetide scan were followed-up for 13 months (median) after salvage radiotherapy to the pelvis. A logistic regression model was used to determine whether the scan findings, as well as other clinical variables, were associated with a durable complete response (DCR), a nondurable response (NDR), or no response (NR). RESULTS: Sixteen of 23 (70%) men with a normal scan outside the prostatic fossa achieved a DCR after salvage radiotherapy versus two of nine (22%) who had a positive scan outside the prostate fossa and pelvis (P = .0225, Fisher's exact test). Predicted probability (95% confidence interval [CI]) that a DCR would be obtained with a normal scan was 0.88 (0.55 to 0.98); for men with a positive scan limited to the prostatic fossa it was 0.62 (0.42 to 0.79); and for men with a positive scan outside the pelvis it was 0.27 (0.09 to 0.58). No other variables before radiotherapy showed a significant association with the DCR rate. CONCLUSION: Salvage radiotherapy is statistically more likely to lead to a durable complete PSA response in men with prostate cancer who have failed radical prostatectomy and have a negative In-111-capromab pendetide scan outside the pelvis as compared with those who have a positive scan.     

An illusion of memory: False recognition influenced by unconscious perception.

The results of two experiments showed that an illusion of memory can be produced by unconscious perception. In a first phase of those experiments, a long list of words was presented for study. For the test of recognition memory given in the second phase of each experiment, presentation of a "context" word preceded that of most recognition test words. Ss were to judge whether or not the test words had been presented during the earlier study phase of the experiment. Effects of a context word on this recognition memory decision were opposite when Ss were aware vs. unaware of its presentation. For example, as compared to a condition in which no context word was presented, the probability of false recognition was increased when Ss were unaware but decreased when Ss were aware of the presentation of a context word that matched the recognition test word. Results are discussed in terms of unconscious influences on an attribution process. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Nanogoldpharmaceutics (i) The use of colloidal gold to treat experimentally-induced arthritis in rat models; (ii) Characterization of the gold in Swarna bhasma, a microparticulate used in traditional Indian medicine

Nanosized gold particles (27 +/− 3 nm) have been proven to be effective in ameliorating the symptoms of mycobacterial-, collagen- and pristane-induced arthritis in rat models. This contrasts with the drug sodium aurothiomalate that was only effective against mycobacterial-induced arthritis but not to the same extent as Au⁰. Gold in the traditional Indian Ayurvedic medicine,Swarna bhasma (gold ash), has been characterized as globular particles of gold with an average size of 56–57 nm.