A Locus for Hereditary Sensory Neuropathy with Cough and Gastroesophageal Reflux on Chromosome 3p22-p24

Hereditary sensory neuropathy type I (HSN I) is a group of dominantly inherited degenerative disorders of peripheral nerve in which sensory features are more prominent than motor involvement. We have described a new form of HSN I that is associated with cough and gastroesophageal reflux. To map the chromosomal location of the gene causing the disorder, a 10-cM genome screen was undertaken in a large Australian family. Two-point analysis showed linkage to chromosome 3p22-p24 (Zmax=3.51 at recombination fraction (θ) 0.0 for marker D3S2338). A second family with a similar phenotype shares a different disease haplotype but segregates at the same locus. Extended haplotype analysis has refined the region to a 3.42-cM interval, flanked by markers D3S2336 and D3S1266

Mechanism, localization and cure of atrial arrhythmias occurring after a new intraoperative endocardial radiofrequency ablation procedure for atrial fibrillation

AbstractOBJECTIVESThe purpose of this study was to test a new pattern of radiofrequency ablation for atrial fibrillation (AFib) intended to optimize atrial activation, and to demonstrate the usefulness of catheter techniques for mapping and ablation of postoperative atrial arrhythmias.BACKGROUNDLinear radiofrequency lesions have been used to cure AFib, but the optimal pattern of lesions is unknown and postoperative tachyarrhythmias are common.METHODSA radial pattern of linear radiofrequency lesions (Star) was made using an endocardial open surgical approach in 25 patients. Postoperative arrhythmias were induced and characterized during electrophysiological studies in 15 patients.RESULTSThe AFib was abolished in most patients (91%), but atrial flutter (AFlut) occurred in 96% of patients postoperatively. At postoperative electrophysiological studies, 37 flutter morphologies were studied in 15 patients (46% spontaneous, cycle length [CL] 223 ± 25 ms). Seven mechanisms (lesions discontinuity, n = 6; focal mechanism, n = 1) of AFlut were characterized in six patients. In these cases, flutter was abolished using further catheter radiofrequency ablation. In the remaining cases, flutter was usually localized to an area involving the interatrial septum, but no critical isthmus was identified for ablation. After 16 ± 10 months, 15 patients (65%) were asymptomatic with (n = 3) or without (n = 12) antiarrhythmic medications. Eight (35%) patients had persistent arrhythmias. Postoperative atrial electrical activation was near physiological.CONCLUSIONSThe AFib may be abolished using a radial pattern of linear endocardial radiofrequency lesions, but postoperative AFlut is common even when lesions are made under optimal conditions. Endocardial mapping techniques can be used to characterize the flutter mechanisms, thus enabling subsequent successful catheter ablation

Controversies and priorities in amyotrophic lateral sclerosis

Two decades after the discovery that 20% of familial amyotrophic lateral sclerosis (ALS) cases were linked to mutations in the superoxide dismutase-1 (SOD1) gene, a substantial proportion of the remainder of cases of familial ALS have now been traced to an expansion of the intronic hexanucleotide repeat sequence in C9orf72. This breakthrough provides an opportunity to re-evaluate longstanding concepts regarding the cause and natural history of ALS, coming soon after the pathological unification of ALS with frontotemporal dementia through a shared pathological signature of cytoplasmic inclusions of the ubiquitinated protein TDP-43. However, with profound clinical, prognostic, neuropathological, and now genetic heterogeneity, the concept of ALS as one disease appears increasingly untenable. This background calls for the development of a more sophisticated taxonomy, and an appreciation of ALS as the breakdown of a wider network rather than a discrete vulnerable population of specialised motor neurons. Identification of C9orf72 repeat expansions in patients without a family history of ALS challenges the traditional division between familial and sporadic disease. By contrast, the 90% of apparently sporadic cases and incomplete penetrance of several genes linked to familial cases suggest that at least some forms of ALS arise from the interplay of multiple genes, poorly understood developmental, environmental, and age-related factors, as well as stochastic events

Comparison of advanced gravitational-wave detectors

We compare two advanced designs for gravitational-wave antennas in terms of their ability to detect two possible gravitational wave sources. Spherical, resonant mass antennas and interferometers incorporating resonant sideband extraction (RSE) were modeled using experimentally measurable parameters. The signal-to-noise ratio of each detector for a binary neutron star system and a rapidly rotating stellar core were calculated. For a range of plausible parameters we found that the advanced LIGO interferometer incorporating RSE gave higher signal-to-noise ratios than a spherical detector resonant at the same frequency for both sources. Spheres were found to be sensitive to these sources at distances beyond our galaxy. Interferometers were sensitive to these sources at far enough distances that several events per year would be expected

Body condition score, weight variation and reproductive performance of beef cows in rangelands from the Pantanal region

Objetivou-se avaliar a influência do escore de condição corporal (ECC) sobre a eficiência reprodutiva de vacas de cria nos períodos pré e pós-parto e a probabilidade de parição, usando o escore de condição corporal e a variação ponderal no período crítico do ciclo reprodutivo. Utilizaram-se 248 vacas multíparas mantidas em pastagens nativas distribuídas em quatro estratégias de suplementação: mistura mineral (controle); suplemento farelado; suplemento líquido; suplemento líquido para vacas e bezerros. As avaliações de peso e ECC, na escala de 1 a 9, foram realizadas no período crítico: em agosto (período pré-parto, 60-90 dias antes da parição) e em janeiro (período pós-parto e reprodutivo) durante quatro anos consecutivos. Para a análise dos anos consecutivos de reprodução, criou-se um escore de reprodução, ou seja, somou-se o número de parições de cada vaca durante os quatro anos pecuários avaliados. O escore de condição corporal nos períodos pré e pós-parto e a idade da vaca influenciaram o escore de reprodução. Portanto, para avaliação da probabilidade de parição, foram utilizadas todas as vacas, classificadas em paridas e vazias. Utilizando equações de estimação generalizadas (EEG), foi modelada a probabilidade de as matrizes serem classificadas como paridas considerando variáveis exploratórias ao longo do tempo. Para se obter probabilidade de parição superior a 80%, as vacas devem possuir escore de aproximadamente 5,5 no período pré-parto. Aproximadamente 60% das vacas paridas mantiveram ou ganharam peso no período crítico do ano, o que levou a maior probabilidade de reconcepção, similar ao observado para as vacas vazias, porém com probabilidade menor de parição. O período pré-parto é o melhor para estimar a probabilidade de parição das vacas por meio da avaliação do escore corporal. A seleção de vacas adaptadas às condições bioclimáticas do Pantanal aumenta a probabilidade de produção de um bezerro por vaca por ano. _________________________________________________________________________________ ABSTRACTThe aim of this study was to evaluate the influence of body condition score (BCS) on reproductive performance of beef cows before and after calving and to evaluate the calving probability using body condition score and weight variation during critical periods of the cow reproductive cycle. From 2001 to 2005, the body condition score was recorded in 248 multiparous cows raised in native pastures, submitted to different supplementation treatments (mineral mixture only - control; dry supplement; liquid supplement and liquid supplement for cow and calves). Weighing and body condition evaluation were made on a 1-9 point scale in August (prepartum period, 60-90 days before parturition) and January (postpartum and reproductive period). A reproduction score was created in function of the body scores in four consecutive years. Except for the treatment, the other factors (body condition score in the prepartum and postpartum periods and cow age) influenced the reproduction score. Thus, the calving probabilities were estimated for all cows. Generalized estimating equations (GEE) were used to evaluate the calving probability in function of the exploratory variables over time. Calving probability higher than 80% was obtained when cows scored 5,5 before calving. In relation to weight, the results showed that about 60% of calving cows maintained or gained weight in the postpartum period, leading to increase in the rebreeding probability. Similar situation occurred with single cows; however, the calving probability was lower. These results indicate that the calving probability using BCS is better estimated before calving. Furthermore, it indicates the presence of cows more adapted to the Pantanal climatic and feeding conditions than others

The roles of the formal and informal sectors in the provision of effective science education

For many years, formal school science education has been criticised by students, teachers, parents and employers throughout the world. This article presents an argument that a greater collaboration between the formal and the informal sector could address some of these criticisms. The causes for concern about formal science education are summarised and the major approaches being taken to address them are outlined. The contributions that the informal sector currently makes to science education are identified. It is suggested that the provision of an effective science education entails an enhanced complementarity between the two sectors. Finally, there is a brief discussion of the collaboration and communication still needed if this is to be effective

Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis

We conducted DNA methylation association analyses using Illumina 450K data from whole blood for an Australian amyotrophic lateral sclerosis (ALS) case–control cohort (782 cases and 613 controls). Analyses used mixed linear models as implemented in the OSCA software. We found a significantly higher proportion of neutrophils in cases compared to controls which replicated in an independent cohort from the Netherlands (1159 cases and 637 controls). The OSCA MOMENT linear mixed model has been shown in simulations to best account for confounders. When combined in a methylation profile score, the 25 most-associated probes identified by MOMENT significantly classified case–control status in the Netherlands sample (area under the curve, AUC = 0.65, CI95% = [0.62–0.68], p = 8.3 × 10−22). The maximum AUC achieved was 0.69 (CI95% = [0.66–0.71], p = 4.3 × 10−34) when cell-type proportion was included in the predictor

Measurement of the B0-anti-B0-Oscillation Frequency with Inclusive Dilepton Events

The $B^0$-$\bar B^0$ oscillation frequency has been measured with a sample of 23 million \B\bar B pairs collected with the BABAR detector at the PEP-II asymmetric B Factory at SLAC. In this sample, we select events in which both B mesons decay semileptonically and use the charge of the leptons to identify the flavor of each B meson. A simultaneous fit to the decay time difference distributions for opposite- and same-sign dilepton events gives $\Delta m_d = 0.493 \pm 0.012{(stat)}\pm 0.009{(syst)}$ ps$^{-1}$.Comment: 7 pages, 1 figure, submitted to Physical Review Letter

Measurement of the polarisation of W bosons produced with large transverse momentum in pp collisions at sqrt(s) = 7 TeV with the ATLAS experiment

This paper describes an analysis of the angular distribution of W->enu and W->munu decays, using data from pp collisions at sqrt(s) = 7 TeV recorded with the ATLAS detector at the LHC in 2010, corresponding to an integrated luminosity of about 35 pb^-1. Using the decay lepton transverse momentum and the missing transverse energy, the W decay angular distribution projected onto the transverse plane is obtained and analysed in terms of helicity fractions f0, fL and fR over two ranges of W transverse momentum (ptw): 35 < ptw < 50 GeV and ptw > 50 GeV. Good agreement is found with theoretical predictions. For ptw > 50 GeV, the values of f0 and fL-fR, averaged over charge and lepton flavour, are measured to be : f0 = 0.127 +/- 0.030 +/- 0.108 and fL-fR = 0.252 +/- 0.017 +/- 0.030, where the first uncertainties are statistical, and the second include all systematic effects.Comment: 19 pages plus author list (34 pages total), 9 figures, 11 tables, revised author list, matches European Journal of Physics C versio