Partial trisomy 10p and familial translocation t(7;10)(p22;p12)

Summary A girl with partial trisomy for the short arm of chromosome 10(p12pter) due to mal chromosome segregation in the father 46,XY,t(7;10)(p22;p12) is described. The major abnormalities in this case are: mottled skin, mid-facial hypoplasia, low percentiles for weight, length, and head circumference, and club feet.To whom offprint requests should be sent     

Statistical modeling of biomedical corpora: mining the Caenorhabditis Genetic Center Bibliography for genes related to life span

Background  

The statistical modeling of biomedical corpora could yield integrated, coarse-to-fine views of biological phenomena that complement discoveries made from analysis of molecular sequence and profiling data. Here, the potential of such modeling is demonstrated by examining the 5,225 free-text items in the Caenorhabditis Genetic Center (CGC) Bibliography using techniques from statistical information retrieval. Items in the CGC biomedical text corpus were modeled using the Latent Dirichlet Allocation (LDA) model. LDA is a hierarchical Bayesian model which represents a document as a random mixture over latent topics; each topic is characterized by a distribution over words.     

Cognitive function and symptoms in adults and adolescents in relation to rf radiation from UMTS base stations

There is widespread public concern about the potential adverse health effects of mobile phones in general and their associated base stations in particular. This study was designed to investigate the acute effects of radio frequency (RF) electromagnetic fields (EMF) emitted by the Universal Mobile Telecommunication System (UMTS) mobile phone base stations on human cognitive function and symptoms. Forty adolescents (15-16 years) and 40 adults (25-40 years) were exposed to four conditions: (1) sham, (2) a Continuous Wave (CW) at 2140 MHz, (3) a signal at 2140 MHz modulated as UMTS and (4) UMTS at 2140 MHz including all control features in a randomized, double blinded cross-over design. Each exposure lasted 45 min. During exposure the participants performed different cognitive tasks with the Trail Making B (TMB) test as the main outcome and completed a questionnaire measuring self reported subjective symptoms. No statistically significant differences between the UMTS and sham conditions were found for performance on TMB. For the adults, the estimated difference between UMTS and sham was -3.2% (-9.2%; 2.9%) and for the adolescents 5.5% (-1.1%; 12.2%). No significant changes were found in any of the cognitive tasks. An increase in 'headache rating' was observed when data from the adolescents and adults were combined (P = 0.027), an effect that may be due to differences at baseline. In conclusion, the primary hypothesis that UMTS radiation reduces general performance in the TMB test was not confirmed. However, we suggest that the hypothesis of subjective symptoms and EMF exposure needs further research.     

Effect of the pericardium on atrial systolic function.

The effect of pericardial constraint on atrial systolic function was investigated in nine acutely instrumented anesthetized dogs. Left and right atrial pressures were recorded by high-fidelity catheters; auricular diameters and free wall segment lengths were measured by sonomicrometry. Atrial function curves were constructed by relating atrial systolic dimensional shortening to atrial end-diastolic pressure during progressive volume loading. With the pericardium closed, the function curves were shifted markedly downward and rightward, such that atrial systolic shortening was reduced at any given pressure. There was a concomitant leftward and upward shift of the atrial end-diastolic pressure-dimension relationship. The relationship between atrial systolic shortening and atrial end-diastolic dimension was not shifted. These results suggest that the apparent depression of atrial systolic function with the pericardium closed is due to a restrictive effect of the pericardium on atrial filling. In conclusion, in the acutely dilated heart, the pericardium restricts atrial filling and thus causes a reduction in atrial systolic contribution to ventricular filling.     

Evaluation of a candidate International Standard for Meningococcal Group C polysaccharide

Meningococcal group C (MenC) plain polysaccharide (PS) and conjugate vaccines are primarily evaluated by physicochemical methods to ensure that batches are consistently manufactured. As different assays are employed to quantify the MenC PS content of final formulations and bulk intermediaries, there is a need for an International MenC PS Standard to calibrate internal references used in the different laboratories. Twelve laboratories from nine different countries participated in a collaborative study to determine the MenC PS content of a candidate International Standard MenC PS preparation (08/214) and to assess its suitability. On the basis of the results from this study the candidate standard 08/214 was established as an International Standard for the quantification of MenC PS content in vaccines and components. It has a content of 1.192 ± 0.192 mg MenC PS/ampoule (expanded uncertainty with coverage factor of k = 2.365 corresponding to a 95% level of confidence), as determined by the resorcinol assays carried out by eight of the participating laboratories. The standard is available from The National Institute of Biological Standards and Control who act as guardians and distributors of the material under the auspices of WHO.     

Ensemble attribute profile clustering: discovering and characterizing groups of genes with similar patterns of biological features

Background  

Ensemble attribute profile clustering is a novel, text-based strategy for analyzing a user-defined list of genes and/or proteins. The strategy exploits annotation data present in gene-centered corpora and utilizes ideas from statistical information retrieval to discover and characterize properties shared by subsets of the list. The practical utility of this method is demonstrated by employing it in a retrospective study of two non-overlapping sets of genes defined by a published investigation as markers for normal human breast luminal epithelial cells and myoepithelial cells.     

Phytoplankton and nutrients in the waters north-west of Spitsbergen in the autumn of 1979

Phytoplankton biomass, primary production rates and inorganicnutrients were measured in the uppermost layer of the ice-edgeregion and in open water and compared with environmental factorsduring a three-week cruise in September – October 1979.Biomass and production values were low (maximum 2.2 µgchl a l^–1, 2.5 mg C m^–3 h^–1). A post-bloomcommunity of diatoms, consisting mainly of representatives ofChaetoceros, Leptocylindrus, Nitzschia and Thalassiosira, waspredominant. Concentrations of phosphate were quite low (maximum0.55 µM I^–1). Nitrate and silicate ranged from nomeasurable quantities to 5.7 µM l^–1 and 3.8 µMl^–1, respectively. The possibility of light and nutrientlimitation on phytoplankton growth is discussed.     

Differential autophosphorylation of CaM kinase II from phasic and tonic smooth muscle tissues

Ca+/calmodulin-dependent protein kinase II (CaM kinase II) is regulated by calcium oscillations, autophosphorylation, and its subunit composition. All four subunit isoforms were detected in gastric fundus and proximal colon smooth muscles by RT-PCR, but only the gamma and delta isoforms are expressed in myocytes. Relative gamma and delta message levels were quantitated by real-time PCR. CaM kinase II protein and Ca2+/calmodulin-stimulated (total) activity levels are higher in proximal colon smooth muscle lysates than in fundus lysates, but Ca2+/calmodulin-independent (autonomous) activity is higher in fundus lysates. CaM kinase II in fundus lysates is relatively unresponsive to Ca2+/calmodulin. Alkaline phosphatase decreased CaM kinase II autonomous activity in fundus lysates and restored its responsiveness to Ca2+/calmodulin. Acetylcholine (ACh) increased autonomous CaM kinase II activity in fundus and proximal colon smooth muscles in a time- and dose-dependent manner. KN-93 enhanced ACh-induced fundus contractions but inhibited proximal colon contractions. The different properties of CaM kinase II from fundus and proximal colon smooth muscles suggest differential regulation of its autophosphorylation and activity in tonic and phasic gastrointestinal smooth muscles.     

Estimating the rate of evolution of the rate of molecular evolution

A simple model for the evolution of the rate of molecular evolution is presented. With a Bayesian approach, this model can serve as the basis for estimating dates of important evolutionary events even in the absence of the assumption of constant rates among evolutionary lineages. The method can be used in conjunction with any of the widely used models for nucleotide substitution or amino acid replacement. It is illustrated by analyzing a data set of rbcL protein sequences.