Neuropsychological and psychosocial effects of the FMR-1 full mutation: Case report of monozygotic twins discordant for the fragile X syndrome.

An extensive evaluation was conducted with 16-yr-old monozygotic twins concordant for the fragile X full mutation but discordant for mental retardation. The clearly affected twin had an IQ score of 47; 77% of her neuropsychological z scores were at least 2 SDs below average. Her sister had an IQ score of 105 and average neuropsychological performance. However, each girl demonstrated relative verbal strengths and visual-spatial weaknesses. Their parents rated each girl as having significant problems with attention, conduct, anxiety-withdrawal, and hyperactivity. The girls did not rate themselves as having significant anxiety. These findings are consistent with group data on females with fragile X and demonstrate the wide range of effects associated with the fragile X full mutation. This case report implicates the importance of a psychosocial phenotype of fragile X independent of cognitive ability level. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Loss of heterozygosity for chromosome 1p in familial neuroblastoma

Loss of heterozygosity (LOH) and deletion of chromosome 1p are very often found in sporadic neuroblastoma. Nevertheless, very few data are available concerning 1p LOH in familial neuroblastoma. Families with recurrent neuroblastoma are rare and analysis of chromosome 1p in these families might give useful information for identifying the putative neuroblastoma suppressor gene. We used combined cytogenetic and molecular techniques to study 1p LOH in two neuroblastoma families. Family M has 2 out of 3 children with neuroblastoma and family C has 2 children, 1 of whom has neuroblastoma and type 1 neurofibromatosis (NF1). All patients of both families showed tumour cells with chromosome 1p deletion (1pdel), but only the patient from family C also had MYCN gene amplification. In all cases the deleted chromosome 1 was of maternal origin.     

Pecunia olet: The role of incidental disgust in the ultimatum game.

We address the role of the incidental emotion of disgust in the Ultimatum Game. Participants had to choose whether or not to accept a ? offer from a ?0 pot made by another participant; 120 were in a room where a disgusting smell was released and 120 were in a room with no particular smell. Acceptance rates were higher in the room with the disgusting smell. The effect was mainly carried by the male participants who also reported more disgust with the disgusting smell and judged the offer as less unfair than females. We propose a spontaneous discounting explanation. Acceptance rates were higher in the room with the disgusting smell because participants misattributed the disgust induced by the offer to the ambient disgusting smell. (PsycINFO Database Record (c) 2011 APA, all rights reserved)     

Content of alpha S1-casein and coagulation properties in goat milk

Samples of goat milk with low and high alpha S1-casein content collected from animals of Alpine and Saanen breeds in the same stage of lactation were compared for coagulation properties (coagulation time, rate of curd formation, curd firmness) and chemical composition (total solids, ash, total protein, total casein, whey protein, fat, Ca, P, pH). Milk with low alpha S1-casein had a faster coagulation time, whereas milk with high levels produced the firmer curd associated with a better chemical composition. Within high alpha S1-casein milk, comparison between breeds showed milk from the Alpine breed had significantly better coagulation properties than that from the Saanen breed. Milk composition accounted for 27% of the variation in coagulation time, 21% of variation in cured formation rate, and 54% of variation in curd firmness.     

Restriction fragment length polymorphism analysis reveals different allele frequency and a linkage disequilibrium at locus D1S94 in neuroblastoma patients

Deletion of chromosome 1p and MYCN amplification have been reported as frequent abnormalities in human neuroblastoma. We studied loss of heterozygosity (LOH) in 50 (48 informative) Italian neuroblastoma patients by restriction fragment length polymorphisms (RFLPs) analysis using anonymous and hypervariable region (HVR) sequences. Twelve cases (25%) showed LOH at one or more loci. Locus D1S94 was the most frequently involved in LOH events (8/12) of deleted cases (66.6%). MYCN amplification was observed in 20% of patients which showed a significantly lower event-free survival probability (EFSp) (P = 0.004). We also studied the allelic distribution in the constitutional DNA of neuroblastoma patients (n = 44) and a matched group of healthy Italian subjects (n = 79) for loci D1S112 and D1S94. A significantly (P = 0.01) different allele frequency was detected for the two groups at locus D1S94, but not at D1S112. Moreover, the neuroblastoma population did not confirm the Hardy-Weinberg expectations at the former locus. This observation suggests the existence of an allelotype associated with neuroblastoma susceptibility.     

MOCADI_FUSION: Extension of the Monte-Carlo code MOCADI to heavy-ion fusion-evaporation reactions

We have recently developed a code, called MOCADI_FUSION, for tracing fusion-evaporation residues (ERs) through matter within ion-optical systems. The program is based on the existing Monte-Carlo code MOCADI, which has been extended by including the kinematics of fusion-evaporation reactions and the atomic interaction of the ERs with the target atoms. The ion optics of the experimental set-up used for the selection of the desired species is combined with the phase-space distribution of the ERs at the target exit into MOCADI to evaluate the secondary beam properties (beam profile, separation quality, transmission, etc.) along the separator. The code has been tested for the velocity filter SHIP at GSI, and it reproduces the set-up characteristics (angular, charge state and velocity acceptances) and the experimental transmission data. MOCADI_FUSION has been also used for the SHIPTRAP experiment to evaluate the range distribution of the ERs in the gas cell and to estimate the overall SHIPTRAP efficiency.     

2-(1-Naphthyloxy)ethylamines with enhanced affinity for human 5-HT1D beta (h5-HT1B) serotonin receptors

Although the beta-adrenergic antagonist propranolol (1) binds at rodent 5-HT1B serotonin receptors, it displays low affinity (Ki > 10,000 nM) for its species homologue 5-HT1D beta (i.e., h5-HT1B) receptors. The structure of propranolol was systematically modified in an attempt to enhance its affinity for the latter population of receptors. Removal of the alkyl hydroxyl group, shortening of the O-alkyl chain from three to two methylene groups, and variation of the terminal amine substituent resulted in compounds, such as N-monomethyl-2-(1-naphthyloxy)-ethylamine (11; Ki = 26 nM), that display significantly higher h5-HT1B affinity than propranolol. Compound 11 was shown to bind equally well at human 5-HT1D alpha (h5-HT1D) receptors (Ki = 34 nM) and was further demonstrated to possess h5-HT1B agonist character in an adenylate cyclase assay. It would appear that such (aryloxy)alkylamines may represent a novel class of 5-HT1D receptor agonists.     

Children's interpretations of homonyms: a developmental study

The effect of homonymity on children's use of semantic context to derive word meaning was examined in two studies. Participants were presented with stories that included three types of key words: nonsense words, familiar words used accurately, and homonymous words. Thirty-two preschoolers aged 3;7 to 5;4, 32 second graders aged 7;1 to 8;8, and 16 college students in Study 1 indicated the keys words' meaning by selecting one of six possible illustrations per key word. In Study 2, 16 toddlers aged 2;9 to 3;3, 32 preschoolers aged 4;0 to 4;11, 32 second graders aged 7;0 to 8;11, and 32 fifth graders aged 10;1 to 11;8 indicated key word meanings either by enacting each story with paper dolls or by selecting one of six possible illustrations. Word type and age, but not response mode, affected children's interpretations. Children from all four age groups made fewer contextually based interpretations of homonymous words than of nonsense words. Fifth graders and adults made more contextually based (rather than literal) interpretations of homonymous words than did younger children. The results suggest that homonymity is a powerful inhibitor of children's tendency to derive a meaning for a new word from context.