Frequency of the 7q11.23 inversion polymorphism in transmitting parents of children with Williams syndrome and in the general population does not differ between North America and Europe

Inversion of the Williams syndrome (WS) region on chromosome 7q11.23 has previously been shown to occur at a higher frequency in the transmitting parents of children with WS than in the general population, suggesting that it predisposes to the WS deletion. Frohnauer et al. recently reported that the frequency of this inversion is not elevated in the parents of children with WS in Germany relative to the German general population. We have compared Frohnauer et al.'s data to those from three previously published studies (Hobart et al., Bayes et al., Osborne et al.), all of which reported a significantly higher rate of 7q11.23 inversion in transmitting parents than in the general population. Results indicated that Frohnauer et al.'s data are consistent with previously reported frequencies of 7q11.23 inversion in North America and Spain in both transmitting parents and the general population

Magnitude and meaningfulness of change in SF-36 scores in four types of orthopedic surgery

Background: The Medical Outcomes General Health Survey (SF-36) is a widely used health status measure; however, limited evidence is available for its performance in orthopedic settings. The aim of this study was to examine the magnitude and meaningfulness of change and sensitivity of SF-36 subscales following orthopedic surgery.Methods: Longitudinal data on outcomes of total hip replacement (THR, n = 255), total knee replacement (TKR, n = 103), arthroscopic partial meniscectomy (APM, n = 74) and anterior cruciate ligament reconstruction (ACL, n = 62) were used to estimate the effect sizes (ES, magnitude of change) and minimal detectable change (sensitivity) at the group and individual level. To provide context for interpreting the magnitude of changes in SF-36 scores, we also compared patients\u27 scores with age and sex-matched population norms. The studies were conducted in Sweden. Follow-up was five years in THR and TKR studies, two years in ACL, and three months in APM.Results: On average, large effect sizes (ES&ge;0.80) were found after orthopedic surgery in SF-36 subscales measuring physical aspects (physical functioning, role physical, and bodily pain). Small (0.20&ndash;0.49) to moderate (0.50&ndash;0.79) effect sizes were found in subscales measuring mental and social aspects (role emotional, vitality, social functioning, and mental health). General health scores remained relatively unchanged during the follow-up. Despite improvements, post-surgery mean scores of patients were still below the age and sex matched population norms on physical subscales. Patients\u27 scores on mental and social subscales approached population norms following the surgery. At the individual level, scores of a large proportion of patients were affected by floor or ceiling effects on several subscales and the sensitivity to individual change was very low.Conclusion: Large to moderate meaningful changes in group scores were observed in all SF-36 subscales except General Health across the intervention groups. Therefore, in orthopedic settings, the SF-36 can be used to show changes for groups in physical, mental, and social dimensions and in comparison with population norms. However, SF-36 subscales have low sensitivity to individual change and so we caution against using SF-36 to monitor the health status of individual patients undergoing orthopedic surgery.<br /

Impact of Diagnostic Practices on the Self-Reported Health of Mothers of Recently Diagnosed Children with ASD

Objectives: Obtaining a diagnosis of an Autism Spectrum Disorder (ASD) for a child is a pivotal point in developing the treatment plan for the child but can also be regarded as highly stressful by parents. The current study examined the impact of different aspects of the diagnosis process on the self-reported mental health of mothers of children undergoing a diagnosis for ASD in a cross-sectional cohort design. Methods: One-hundred-fifty-eight mothers of consequently diagnosed children with ASD participated. The severity of the children’s ASD and their intellectual functioning was assessed within twelve months of the diagnosis, and the mothers completed a psychometric assessment battery including the Hospital Anxiety and Depression Scale, General Health Questionnaire, and Questionnaire on Resources and Stress. Results: The actual time from first reporting a problem to obtaining a diagnosis, and the speed of the diagnostic process from first to last appointment, were both negatively related to patenting stress. In contrast, mothers’ perceptions of the speed and helpfulness of the process were negatively related to levels of anxiety and depression. The number of professionals involved in the process and the perceived coherence of the diagnosis were also negatively related to aspects of mothers’ functioning. Conclusions: Care is needed to help mothers through the diagnostic process with regard to their own functioning. Providing information and help sources throughout the process, while keeping the number of professionals involved to a minimum, may improve the parent perception of the process and reduce the negative impacts of the diagnosis on the family as a whole

Linking sexual and reproductive health and HIV interventions: a systematic review

<p>Abstract</p> <p>Background</p> <p>The international community agrees that the Millennium Development Goals will not be achieved without ensuring universal access to both sexual and reproductive health (SRH) services and HIV/AIDS prevention, treatment, care and support. Recently, there has been increasing awareness and discussion of the possible benefits of linkages between SRH and HIV programmes at the policy, systems and service delivery levels. However, the evidence for the efficacy of these linkages has not been systematically assessed.</p> <p>Methods</p> <p>We conducted a systematic review of the evidence for interventions linking SRH and HIV. Structured methods were employed for searching, screening and data extraction. Studies from 1990 to 2007 reporting pre-post or multi-arm evaluation data from SRH-HIV linkage interventions were included. Study design rigour was scored on a nine-point scale. Unpublished programme reports were gathered as "promising practices".</p> <p>Results</p> <p>Of more than 50,000 citations identified, 185 studies were included in the review and 35 were analyzed. These studies had heterogeneous interventions, populations, objectives, study designs, rigour and measured outcomes. SRH-HIV linkage interventions were generally considered beneficial and feasible. The majority of studies showed improvements in all outcomes measured. While there were some mixed results, there were very few negative findings. Generally, positive effects were shown for key outcomes, including HIV incidence, sexually transmitted infection incidence, condom use, contraceptive use, uptake of HIV testing and quality of services. Promising practices (n = 23) tended to evaluate more recent and more comprehensive programmes. Factors promoting effective linkages included stakeholder involvement, capacity building, positive staff attitudes, non-stigmatizing services, and engagement of key populations.</p> <p>Conclusions</p> <p>Existing evidence provides support for linkages, although significant gaps in the literature remain. Policy makers, programme managers and researchers should continue to advocate for, support, implement and rigorously evaluate SRH and HIV linkages at the policy, systems and service levels.</p

Adaptation of the methotrexate in rheumatoid arthritis knowledge questionnaire (MiRAK) for use with parents of children with juvenile idiopathic arthritis: a qualitative study

BACKGROUND: Although Methotrexate (MTX) is one of the most commonly prescribed disease-modifying drugs in JIA no questionnaire exists that assesses the knowledge of parents about this drug. A 60-item questionnaire was recently developed to measure rheumatoid arthritis (RA) patients\u27 knowledge about MTX; the Methotrexate in Rheumatoid Arthritis Knowledge Test (MiRAK; Ciciriello et al. (Arthritis Rheum 62:10-1009, 2010)). This study aimed to adapt the MiRAK for parents of children with JIA. METHODS: Adaption of the MiRAK involved: 1) email consultations with clinicians working in the field of paediatric rheumatology (Panel 1) to ascertain the potential adaptations of the MiRAK from a clinical perspective, 2) synthesis of clinicians\u27 suggestions by a panel of experts, researchers and MiRAK developers (Panel 2) to reach consensus on which items needed to be modified and create a draft Methotrexate in Juvenile Idiopathic Arthritis Knowledge Test (MiJIAK), 3) a review of the draft by 5 parents of children with JIA (Panel 3) using the cognitive \u27think-aloud\u27 method, 4) a second consultation with Panel 2 to review parents\u27 suggestions and determine the final items. RESULTS: A total of 9 items remained unchanged, e.g. &quot;Methotrexate is effective at relieving joint stiffness&quot;, 19 were deemed inappropriate in the paediatric setting and deleted, e.g. &quot;It is safe to become pregnant 3 weeks after methotrexate has been stopped&quot;, 32 underwent editorial changes largely to indicate that the questionnaire was about the children with JIA, e.g. &quot;If you forget to give a dose of Methotrexate, you can still take it the next day&quot; became &quot;If your child misses a dose of Methotrexate, they can still take it the next day&quot;, and 1 new item was added. A new 42-item questionnaire was produced and was found to be well understood by parents of children with JIA. CONCLUSIONS: The systematic modification of the MiRAK, a patient-centred MTX knowledge questionnaire, has generated a comprehensive new questionnaire for use in the JIA setting. The wide consultation process, including cognitive testing, has ensured the tool is both relevant and acceptable to clinicians and will therefore be a valuable addition in understanding the parents\u27 perspective of this treatment in JIA

Enabling ambulatory movement in wearable magnetoencephalography with matrix coil active magnetic shielding

The ability to collect high-quality neuroimaging data during ambulatory participant movement would enable a wealth of neuroscientific paradigms. Wearable magnetoencephalography (MEG) based on optically pumped magnetometers (OPMs) has the potential to allow participant movement during a scan. However, the strict zero magnetic field requirement of OPMs means that systems must be operated inside a magnetically shielded room (MSR) and also require active shielding using electromagnetic coils to cancel residual fields and field changes (due to external sources and sensor movements) that would otherwise prevent accurate neuronal source reconstructions. Existing active shielding systems only compensate fields over small, fixed regions and do not allow ambulatory movement. Here we describe the matrix coil, a new type of active shielding system for OPM-MEG which is formed from 48 square unit coils arranged on two planes which can compensate magnetic fields in regions that can be flexibly placed between the planes. Through the integration of optical tracking with OPM data acquisition, field changes induced by participant movement are cancelled with low latency (25 ms). High-quality MEG source data were collected despite the presence of large (65 cm translations and 270° rotations) ambulatory participant movements

Talking in the present, caring for the future: Language and environment

This paper identifies a new source that explains environmental behaviour: the presence of future tense marking in language. We predict that languages that grammatically mark the future affect speakers' intertemporal preferences and thereby reduce their willingness to address environmental problems. We first show that speakers of languages with future tense marking are less likely to adopt environmentally responsible behaviours and to support policies to prevent environmental damage. We then document that this effect holds across countries: future tense marking is an important determinant of climate change policies and global environmental cooperation. The results suggest that there may be deep and surprising obstacles for attempts to address climate change

Rare and Low Frequency Genomic Variants Impacting Neuronal Functions Modify the Dup7q11.23 Phenotype

© 2021, The Author(s). Background: 7q11.23 duplication (Dup7) is one of the most frequent recurrent copy number variants (CNVs) in individuals with autism spectrum disorder (ASD), but based on gold-standard assessments, only 19% of Dup7 carriers have ASD, suggesting that additional genetic factors are necessary to manifest the ASD phenotype. To assess the contribution of additional genetic variants to the Dup7 phenotype, we conducted whole-genome sequencing analysis of 20 Dup7 carriers: nine with ASD (Dup7-ASD) and 11 without ASD (Dup7-non-ASD). Results: We identified three rare variants of potential clinical relevance for ASD: a 1q21.1 microdeletion (Dup7-non-ASD) and two deletions which disrupted IMMP2L (one Dup7-ASD, one Dup7-non-ASD). There were no significant differences in gene-set or pathway variant burden between the Dup7-ASD and Dup7-non-ASD groups. However, overall intellectual ability negatively correlated with the number of rare loss-of-function variants present in nervous system development and membrane component pathways, and adaptive behaviour standard scores negatively correlated with the number of low-frequency likely-damaging missense variants found in genes expressed in the prenatal human brain. ASD severity positively correlated with the number of low frequency loss-of-function variants impacting genes expressed at low levels in the brain, and genes with a low level of intolerance. Conclusions: Our study suggests that in the presence of the same pathogenic Dup7 variant, rare and low frequency genetic variants act additively to contribute to components of the overall Dup7 phenotype

The On-Site Analysis of the Cherenkov Telescope Array

The Cherenkov Telescope Array (CTA) observatory will be one of the largest ground-based very high-energy gamma-ray observatories. The On-Site Analysis will be the first CTA scientific analysis of data acquired from the array of telescopes, in both northern and southern sites. The On-Site Analysis will have two pipelines: the Level-A pipeline (also known as Real-Time Analysis, RTA) and the level-B one. The RTA performs data quality monitoring and must be able to issue automated alerts on variable and transient astrophysical sources within 30 seconds from the last acquired Cherenkov event that contributes to the alert, with a sensitivity not worse than the one achieved by the final pipeline by more than a factor of 3. The Level-B Analysis has a better sensitivity (not be worse than the final one by a factor of 2) and the results should be available within 10 hours from the acquisition of the data: for this reason this analysis could be performed at the end of an observation or next morning. The latency (in particular for the RTA) and the sensitivity requirements are challenging because of the large data rate, a few GByte/s. The remote connection to the CTA candidate site with a rather limited network bandwidth makes the issue of the exported data size extremely critical and prevents any kind of processing in real-time of the data outside the site of the telescopes. For these reasons the analysis will be performed on-site with infrastructures co-located with the telescopes, with limited electrical power availability and with a reduced possibility of human intervention. This means, for example, that the on-site hardware infrastructure should have low-power consumption. A substantial effort towards the optimization of high-throughput computing service is envisioned to provide hardware and software solutions with high-throughput, low-power consumption at a low-cost.Comment: In Proceedings of the 34th International Cosmic Ray Conference (ICRC2015), The Hague, The Netherlands. All CTA contributions at arXiv:1508.0589

The transport and fate of microplastic fibres in the Antarctic: The role of multiple global processes

Understanding the transport and accumulation of microplastics is useful to determine the relative risk they pose to global biodiversity. The exact contribution of microplastic sources is hard to elucidate; therefore, investigating the Antarctic Weddell Sea, an area known for its remoteness and little human presence (i.e. limited pollution sources), will help us to better understand microplastic transportation. Here, we investigate the presence of microplastics in a range of Antarctic sample media including air, seawater, and sediment. We hypothesised that multiple transportation processes including atmospheric and oceanic vectors determine the presence of microplastics in the Antarctic. Using techniques including Polarised Light Microscopy and Raman Spectrometry, we identified mostly fibres and categorised them based on their optical and chemical properties. A total of 47 individual microplastic categories (45 of which were fibres) were identified in the air, seawater, and sediment samples. The majority of categories did not overlap multiple media (42/47); however, four fibre categories were present in both air and water samples, and another fibre category was found in all three media (category 27). We suggest that the large variety of fibres identified and the overlap of fibre categories among media indicates that the pollution may result from multiple diffuse sources and transportation pathways. Additionally, our Air Mass Back Trajectory analyses demonstrates that microplastic fibres are being transported by air masses or wind, and strongly suggests that they are transported to the Antarctic from southern South America. We also propose that fibres may be transported into the Antarctic in subsurface waters, and as pollution was identified in our sediment and additional sea ice samples, we suggest that the coastal and Antarctic deep sea may be a sink for microplastic fibres. The results shown here from a remote, near-pristine system, further highlight the need for a global response to the plastic pollution crisis