635 research outputs found
Developing an intervention to facilitate family communication about inherited genetic conditions, and training genetic counsellors in its delivery.
Many families experience difficulty in talking about an inherited genetic condition that affects one or more of them. There have now been a number of studies identifying the issues in detail, however few have developed interventions to assist families. The SPRinG collaborative have used the UK Medical Research Council's guidance on Developing and Evaluating Complex Interventions, to work with families and genetic counsellors (GCs) to co-design a psycho-educational intervention to facilitate family communication and promote better coping and adaptation to living with an inherited genetic condition for parents and their children (<18 years). The intervention is modelled on multi-family discussion groups (MFDGs) used in psychiatric settings. The MFDG was developed and tested over three phases. First focus groups with parents, young people, children and health professionals discussed whether MFDG was acceptable and proposed a suitable design. Using evidence and focus group data, the intervention and a training manual were developed and three GCs were trained in its delivery. Finally, a prototype MFDG was led by a family therapist and co-facilitated by the three GCs. Data analysis showed that families attending the focus groups and intervention thought MFDG highly beneficial, and the pilot sessions had a significant impact on their family' functioning. We also demonstrated that it is possible to train GCs to deliver the MFDG intervention. Further studies are now required to test the feasibility of undertaking a definitive randomised controlled trial to evaluate its effectiveness in improving family outcomes before implementing into genetic counselling practice.The National Institute of Health Research funded the study but any views expressed do not necessarily reflect those of the Authority. Funded by NIHR reference number: RP-DG-1211-10015
Gender specific age-related changes in bone density, muscle strength and functional performance in the elderly: a-10 year prospective population-based study
Background: Age-related losses in bone mineral density (BMD), muscle strength, balance, and gait have been linked to an increased risk of falls, fractures and disability, but few prospective studies have compared the timing, rate and pattern of changes in each of these measures in middle-aged and older men and women. This is important so that targeted strategies can be developed to optimise specific musculoskeletal and functional performance measures in older adults. Thus, the aim of this 10-year prospective study was to: 1) characterize and compare age- and gender-specific changes in BMD, grip strength, balance and gait in adults aged 50 years and over, and 2) compare the relative rates of changes between each of these musculoskeletal and functional parameters with ageing.Methods: Men (n = 152) and women (n = 206) aged 50, 60, 70 and 80 years recruited for a population-based study had forearm BMD, grip strength, balance and gait velocity re-assessed after 10-years.Results: The annual loss in BMD was 0.5-0.7% greater in women compared to men aged 60 years and older (p < 0.05- < 0.001), but there were no gender differences in the rate of loss in grip strength, balance or gait. From the age of 50 years there was a consistent pattern of loss in grip strength, while the greatest deterioration in balance and gait occurred from 60 and 70 years onwards, respectively. Comparison of the changes between the different measures revealed that the annual loss in grip strength in men and women aged <70 years was 1-3% greater than the decline in BMD, balance and gait velocity.Conclusion: There were no gender differences in the timing (age) and rate (magnitude) of decline in grip strength, balance or gait in Swedish adults aged 50 years and older, but forearm BMD decreased at a greater rate in women than in men. Furthermore, there was heterogeneity in the rate of loss between the different musculoskeletal and function parameters, especially prior to the age of 70 years, with grip strength deteriorating at a greater rate than BMD, balance and gait.</div
Localisation of RNAs into the germ plasm of vitellogenic xenopus oocytes
We have studied the localisation of mRNAs in full-grown Xenopus laevis oocytes by injecting fluorescent RNAs, followed by confocal microscopy of the oocyte cortex. Concentrating on RNA encoding the Xenopus Nanos homologue, nanos1 (formerly Xcat2), we find that it consistently localised into aggregated germ plasm ribonucleoprotein (RNP) particles, independently of cytoskeletal integrity. This implies that a diffusion/entrapment-mediated mechanism is active, as previously reported for previtellogenic oocytes. Sometimes this was accompanied by localisation into scattered particles of the “late”, Vg1/VegT pathway; occasionally only late pathway localisation was seen. The Xpat RNA behaved in an identical fashion and for neither RNA was the localisation changed by any culture conditions tested. The identity of the labelled RNP aggregates as definitive germ plasm was confirmed by their inclusion of abundant mitochondria and co-localisation with the germ plasm protein Hermes. Further, the nanos1/Hermes RNP particles are interspersed with those containing the germ plasm protein Xpat. These aggregates may be followed into the germ plasm of unfertilized eggs, but with a notable reduction in its quantity, both in terms of injected molecules and endogenous structures. Our results conflict with previous reports that there is no RNA localisation in large oocytes, and that during mid-oogenesis even germ plasm RNAs localise exclusively by the late pathway. We find that in mid oogenesis nanos1 RNA also localises to germ plasm but also by the late pathway. Late pathway RNAs, Vg1 and VegT, also may localise into germ plasm. Our results support the view that mechanistically the two modes of localisation are extremely similar, and that in an injection experiment RNAs might utilise either pathway, the distinction in fates being very subtle and subject to variation. We discuss these results in relation to their biological significance and the results of others
Conditional Knockout of NMDA Receptors in Dopamine Neurons Prevents Nicotine-Conditioned Place Preference
Nicotine from smoking tobacco produces one of the most common forms of addictive behavior and has major societal and health consequences. It is known that nicotine triggers tobacco addiction by activating nicotine acetylcholine receptors (nAChRs) in the midbrain dopaminergic reward system, primarily via the ventral tegmental area. Heterogeneity of cell populations in the region has made it difficult for pharmacology-based analyses to precisely assess the functional significance of glutamatergic inputs to dopamine neurons in nicotine addiction. By generating dopamine neuron-specific NR1 knockout mice using cre/loxP-mediated method, we demonstrate that genetic inactivation of the NMDA receptors in ventral tegmental area dopamine neurons selectively prevents nicotine-conditioned place preference. Interestingly, the mutant mice exhibit normal performances in the conditioned place aversion induced by aversive air puffs. Therefore, this selective effect on addictive drug-induced reinforcement behavior suggests that NMDA receptors in the dopamine neurons are critical for the development of nicotine addiction
Utilisation of an operative difficulty grading scale for laparoscopic cholecystectomy
Background
A reliable system for grading operative difficulty of laparoscopic cholecystectomy would standardise description of findings and reporting of outcomes. The aim of this study was to validate a difficulty grading system (Nassar scale), testing its applicability and consistency in two large prospective datasets.
Methods
Patient and disease-related variables and 30-day outcomes were identified in two prospective cholecystectomy databases: the multi-centre prospective cohort of 8820 patients from the recent CholeS Study and the single-surgeon series containing 4089 patients. Operative data and patient outcomes were correlated with Nassar operative difficultly scale, using Kendall’s tau for dichotomous variables, or Jonckheere–Terpstra tests for continuous variables. A ROC curve analysis was performed, to quantify the predictive accuracy of the scale for each outcome, with continuous outcomes dichotomised, prior to analysis.
Results
A higher operative difficulty grade was consistently associated with worse outcomes for the patients in both the reference and CholeS cohorts. The median length of stay increased from 0 to 4 days, and the 30-day complication rate from 7.6 to 24.4% as the difficulty grade increased from 1 to 4/5 (both p < 0.001). In the CholeS cohort, a higher difficulty grade was found to be most strongly associated with conversion to open and 30-day mortality (AUROC = 0.903, 0.822, respectively). On multivariable analysis, the Nassar operative difficultly scale was found to be a significant independent predictor of operative duration, conversion to open surgery, 30-day complications and 30-day reintervention (all p < 0.001).
Conclusion
We have shown that an operative difficulty scale can standardise the description of operative findings by multiple grades of surgeons to facilitate audit, training assessment and research. It provides a tool for reporting operative findings, disease severity and technical difficulty and can be utilised in future research to reliably compare outcomes according to case mix and intra-operative difficulty
Measurement of Lifetime and Decay-Width Difference in B0s -> J/psi phi Decays
We measure the mean lifetime, tau=2/(Gamma_L+Gamma_H), and the width
difference, DeltaGamma=Gamma_L-Gamma_H, of the light and heavy mass eigenstates
of the B0s meson, B0sL and B0sH, in B0s -> J/psi phi decays using 1.7 fb^-1 of
data collected with the CDF II detector at the Fermilab Tevatron ppbar
collider. Assuming CP conservation, a good approximation for the B0s system in
the Standard Model, we obtain DeltaGamma = 0.076^+0.059_-0.063 (stat.) +- 0.006
(syst.) ps^-1 and tau = 1.52 +- 0.04 (stat.) +- 0.02 (syst.) ps, the most
precise measurements to date. Our constraints on the weak phase and DeltaGamma
are consistent with CP conservation.
Dedicated to the memory of our dear friend and colleague, Michael P. Schmid
Forward-Backward Asymmetry in Top Quark Production in ppbar Collisions at sqrt{s}=1.96 TeV
Reconstructable final state kinematics and charge assignment in the reaction
ppbar->ttbar allows tests of discrete strong interaction symmetries at high
energy. We define frame dependent forward-backward asymmetries for the outgoing
top quark in both the ppbar and ttbar rest frames, correct for experimental
distortions, and derive values at the parton-level. Using 1.9/fb of ppbar
collisions at sqrt{s}=1.96 TeV recorded with the CDF II detector at the
Fermilab Tevatron, we measure forward-backward top quark production asymmetries
in the ppbar and ttbar rest frames of A_{FB,pp} = 0.17 +- 0.08 and A_{FB,tt} =
0.24 +- 0.14.Comment: 7 pages, 2 figures, submitted to Phys.Rev.Lett, corrected references
and change of tex
Search for Pair Production of Scalar Top Quarks Decaying to a tau Lepton and a b Quark in ppbar Collisions at sqrt{s}=1.96 TeV
We search for pair production of supersymmetric top quarks (~t_1), followed
by R-parity violating decay ~t_1 -> tau b with a branching ratio beta, using
322 pb^-1 of ppbar collisions at sqrt{s}=1.96 TeV collected by the CDF II
detector at Fermilab. Two candidate events pass our final selection criteria,
consistent with the standard model expectation. We set upper limits on the
cross section sigma(~t_1 ~tbar_1)*beta^2 as a function of the stop mass
m(~t_1). Assuming beta=1, we set a 95% confidence level limit m(~t_1)>153
GeV/c^2. The limits are also applicable to the case of a third generation
scalar leptoquark (LQ_3) decaying LQ_3 -> tau b.Comment: 7 pages, 2 eps figure
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