Factors related to successful job reintegration of people with a lower limb amputation

Objective: To study demographically, amputation-, and employment-related factors that show a relationship to successful job reintegration of patients after lower limb amputation. Design: Cross-sectional study. Setting: University hospital. Patients: Subjects had an acquired unilateral major amputation of the lower limb at least 2 years before, were aged 18 to 60 years (mean, 46yr), and were living in the Netherlands. All 322 patients were working at the time of amputation and were recruited from orthopedic workshops. Intervention: Questionnaires sent to subjects to self-report (1) demographic and amputation information and (2) job characteristics and readjustment postamputation. Questionnaire sent to rehabilitation specialists to assess physical work load. Main Outcome Measures: Demographically related (age, gender); amputation-related (comorbidity; reason and level; problems with stump, pain, prosthesis use and problems, mobility, rehabilitation); and employment-related (education, physical workload) information about the success of job reintegration. Results: Job reintegration was successful in 79% and unsuccessful in 21% of the amputees. Age at the time of amputation, wearing comfort of the prosthesis, and education level were significant indicators of successful job reintegration. Subjects with physically demanding jobs who changed type of job before and after the amputation more often successfully returned to work than subjects who tried to stay at the same type of job. Conclusions: Older patients with a low education level and problems with the wearing comfort of the prosthesis are a population at risk who require special attention during the rehabilitation process in order to return to work. Lowering the physical workload by changing to another type of work enhances the chance of successful reintegration

Linkage Disequilibrium in Wild Mice

Crosses between laboratory strains of mice provide a powerful way of detecting quantitative trait loci for complex traits related to human disease. Hundreds of these loci have been detected, but only a small number of the underlying causative genes have been identified. The main difficulty is the extensive linkage disequilibrium (LD) in intercross progeny and the slow process of fine-scale mapping by traditional methods. Recently, new approaches have been introduced, such as association studies with inbred lines and multigenerational crosses. These approaches are very useful for interval reduction, but generally do not provide single-gene resolution because of strong LD extending over one to several megabases. Here, we investigate the genetic structure of a natural population of mice in Arizona to determine its suitability for fine-scale LD mapping and association studies. There are three main findings: (1) Arizona mice have a high level of genetic variation, which includes a large fraction of the sequence variation present in classical strains of laboratory mice; (2) they show clear evidence of local inbreeding but appear to lack stable population structure across the study area; and (3) LD decays with distance at a rate similar to human populations, which is considerably more rapid than in laboratory populations of mice. Strong associations in Arizona mice are limited primarily to markers less than 100 kb apart, which provides the possibility of fine-scale association mapping at the level of one or a few genes. Although other considerations, such as sample size requirements and marker discovery, are serious issues in the implementation of association studies, the genetic variation and LD results indicate that wild mice could provide a useful tool for identifying genes that cause variation in complex traits

Feasibility of an online mindfulness-based program for patients with melanoma: study protocol for a randomised controlled trial

BackgroundPeople with a melanoma diagnosis are at risk of recurrence, developing a new primary or experiencing disease progression. Previous studies have suggested that fear of a cancer recurrence is clinically relevant in this group of patients and, if not addressed, can lead to distress. Mindfulness-based interventions have been shown to alleviate symptoms of anxiety and depression among various groups of cancer patients. Online mindfulness-based interventions have the potential to reach people unable to attend face-to-face interventions due to limitations such as cancer-related illness, transportation or time constraints. This study aims to (1) examine whether individuals with a melanoma diagnosis are willing to participate and adhere to a 6-week online mindfulness-based intervention and (2) explore potential benefits of the program on fear of cancer recurrence, worries, rumination, perceived stress and trait mindfulness to inform the design of a clinical trial.Methods/designThis is a single-site randomised controlled trial of a feasibility study. Seventy-five participants with stage 2c or 3 melanoma will be recruited from a melanoma outpatient clinic and randomised (2:1) either to an online mindfulness-based program (intervention) or to usual care (control). The intervention is a 6-week program specifically developed for this study. It consists of videos describing the concept of mindfulness, short daily guided meditation practices (5–10 min), automated meditation reminders and instructions for applying mindfulness in daily life to enhance wellbeing. All participants will complete questionnaires at baseline and at 6-week post-randomisation. Participants in the control group will be given access to the online program at the end of the study. Primary outcomes are overall recruitment; retention; extent of questionnaire completion; and usability and acceptability of, and adherence to, the program. The secondary outcomes are fear of cancer recurrence, worries, rumination, perceived stress and trait mindfulness measured using validated instruments.DiscussionThis feasibility study will evaluate participants’ satisfaction with the program and identify barriers to recruitment and adherence. The recruitment and data collection process will highlight methodological aspects to address in the planning of a larger scale study assessing the impact of an online mindfulness-based intervention on fear of cancer recurrence and wellbeing

Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.

Familial hypercholesterolaemia (FH) is a dominantly inherited disorder present from birth that markedly elevates plasma low-density lipoprotein (LDL) cholesterol and causes premature coronary heart disease. There are at least 20million people with FH worldwide, but the majority remain undetected and current treatment is often suboptimal. To address this major gap in coronary prevention we present, from an international perspective, consensus-based guidance on the care of FH. The guidance was generated from seminars and workshops held at an international symposium. The recommendations focus on the detection, diagnosis, assessment and management of FH in adults and children, and set guidelines for clinical purposes. They also refer to best practice for cascade screening and risk notifying and testing families for FH, including use of genetic testing. Guidance on treatment is based on risk stratification, management of non-cholesterol risk factors, and safe and effective use of LDL lowering therapies. Recommendations are given on lipoprotein apheresis. The use of emerging therapies for FH is also foreshadowed. This international guidance acknowledges evidence gaps, but aims to make the best use of contemporary practice and technology to achieve the best outcomes for the care of FH. It should accordingly be employed to inform clinical judgement and be adjusted for country-specific and local health care needs and resources

Integrated Guidance on the Care of Familial Hypercholesterolaemia from the International FH Foundation: Executive Summary

Familial hypercholesterolaemia (FH) is a dominantly inherited disorder present from birth that markedly elevates plasma low-density lipoprotein (LDL) cholesterol and causes premature coronary heart disease. There are at least 20 million people with FH worldwide, but the majority remains undetected and current treatment is often suboptimal. To address this major gap in coronary prevention we present, from an international perspective, consensus-based guidance on the care of FH. The guidance was generated from seminars and workshops held at an international symposium. The recommendations focus on the detection, diagnosis, assessment and management of FH in adults and children, and set guidelines for clinical purposes. They also refer to best practice for cascade screening and risk notifying and testing families for FH, including use of genetic testing. Guidance on treatment is based on risk stratification, management of non-cholesterol risk factors and safe and effective use of LDL lowering therapies. Recommendations are given on lipoprotein apheresis. The use of emerging therapies for FH is also foreshadowed. This international guidance acknowledges evidence gaps, but aims to make the best use of contemporary practice and technology to achieve the best outcomes for the care of FH. It should accordingly be employed to inform clinical judgment and be adjusted for country-specific and local healthcare needs and resources

TOI-132 b: A short-period planet in the Neptune desert transiting a V=11.3 G-type star

The Neptune desert is a feature seen in the radius-period plane, whereby a notable dearth of short period, Neptune-like planets is found. Here, we report the Transiting Exoplanet Survey Satellite (TESS) discovery of a new short-period planet in the Neptune desert, orbiting the G-type dwarf TYC 8003-1117-1 (TOI-132). TESS photometry shows transit-like dips at the level of similar to 1400 ppm occurring every similar to 2.11 d. High-precision radial velocity follow-up with High Accuracy Radial Velocity Planet Searcher confirmed the planetary nature of the transit signal and provided a semi-amplitude radial velocity variation of 11.38(-0.85)(+0.84) m s(-1), which, when combined with the stellar mass of 0.97 +/- 0.06 M-circle dot, provides a planetary mass of 22.40(-1.92)(+1.90) M-circle plus. Modelling the TESS light curve returns a planet radius of 3.42(-0.14)(+0.13) R-circle plus , and therefore the planet bulk density is found to be 3.08(-0.46)(+0.44) g cm(-3). Planet structure models suggest that the bulk of the planet mass is in the form of a rocky core, with an atmospheric mass fraction of 4.3(-2.3)(+1.2) percent. TOI-132 b is a TESS Level 1 Science Requirement candidate, and therefore priority follow-up will allow the search for additional planets in the system, whilst helping to constrain low-mass planet formation and evolution models, particularly valuable for better understanding of the Neptune desert

HD 20329b: An ultra-short-period planet around a solar-type star found by TESS

We used TESS light curves and HARPS-N spectrograph radial velocity measurements to establish the physical properties of the transiting exoplanet candidate found around the star HD 20329 (TOI-4524). We performed a joint fit of the light curves and radial velocity time series to measure the mass, radius, and orbital parameters of the candidate. We confirm and characterize HD 20329b, an ultra-short-period (USP) planet transiting a solar-type star. The host star (HD 20329, $V = 8.74$ mag, $J = 7.5$ mag) is characterized by its G5 spectral type with $\mathrm{M}_\star= 0.90 \pm 0.05$ M$_\odot$, $\mathrm{R}_\star = 1.13 \pm 0.02$ R$_\odot$, and $\mathrm{T}_{\mathrm{eff}} = 5596 \pm 50$ K; it is located at a distance $d= 63.68 \pm 0.29$ pc. By jointly fitting the available TESS transit light curves and follow-up radial velocity measurements, we find an orbital period of $0.9261 \pm (0.5\times 10^{-4})$ days, a planetary radius of $1.72 \pm 0.07$ $\mathrm{R}_\oplus$, and a mass of $7.42 \pm 1.09$ $\mathrm{M}_\oplus$, implying a mean density of $\rho_\mathrm{p} = 8.06 \pm 1.53$ g cm$^{-3}$. HD 20329b joins the $\sim$30 currently known USP planets with radius and Doppler mass measurements.Comment: Accepted for publication in A&A, 26 page

LHS 1815b: The First Thick-disk Planet Detected By TESS

We report the first discovery of a thick-disk planet, LHS 1815b (TOI-704b, TIC 260004324), detected in the Transiting Exoplanet Survey Satellite (TESS) survey. LHS 1815b transits a bright (V = 12.19 mag, K = 7.99 mag) and quiet M dwarf located 29.87 ± 0.02 pc away with a mass of 0.502 ± 0.015 M ⊙ and a radius of 0.501 ± 0.030 R ⊙. We validate the planet by combining space- and ground-based photometry, spectroscopy, and imaging. The planet has a radius of 1.088 ± 0.064 R ⊕ with a 3σ mass upper limit of 8.7 M ⊕. We analyze the galactic kinematics and orbit of the host star LHS 1815 and find that it has a large probability (P thick/P thin = 6482) to be in the thick disk with a much higher expected maximal height (Z max = 1.8 kpc) above the Galactic plane compared with other TESS planet host stars. Future studies of the interior structure and atmospheric properties of planets in such systems using, for example, the upcoming James Webb Space Telescope, can investigate the differences in formation efficiency and evolution for planetary systems between different Galactic components (thick disks, thin disks, and halo)