The time is out of joint. Teacher subjectivity during COVID‑19

In this study, we address the issue of mathematics teachers' personal and professional responsiveness to changing circumstances, such as the shift in external demands made on teacher practice due to the COVID-19 pandemic. For investigating a such delicate issue, we take a theoretical approach, which is quite novel in the field of mathematics education: Lacan's psychoanalytical lens. Specifically, we will use this psychoanalytical lens to analyze a case study focusing on a primary school teacher during the first lockdown in Italy, during which school was organized exclusively in the form of distance education. The analysis of the teacher’s crisis and the strategies she adopted to overcome this crisis give some suggestions about possible directions and issues to consider for future mathematics teacher training proposals

App-based Self-administrable Clinical Tests of Physical Function: Development and Usability Study

BACKGROUND: Objective measures of physical function in older adults are widely used to predict health outcomes such as disability, institutionalization, and mortality. App-based clinical tests allow users to assess their own physical function and have objective tracking of changes over time by use of their smartphones. Such tests can potentially guide interventions remotely and provide more detailed prognostic information about the participant's physical performance for the users, therapists, and other health care personnel. We developed 3 smartphone apps with instrumented versions of the Timed Up and Go (Self-TUG), tandem stance (Self-Tandem), and Five Times Sit-to-Stand (Self-STS) tests. OBJECTIVE: This study aimed to test the usability of 3 smartphone app-based self-tests of physical function using an iterative design. METHODS: The apps were tested in 3 iterations: the first (n=189) and second (n=134) in a lab setting and the third (n=20) in a separate home-based study. Participants were healthy adults between 60 and 80 years of age. Assessors observed while participants self-administered the tests without any guidance. Errors were recorded, and usability problems were defined. Problems were addressed in each subsequent iteration. Perceived usability in the home-based setting was assessed by use of the System Usability Scale, the User Experience Questionnaire, and semi-structured interviews. RESULTS: In the first iteration, 7 usability problems were identified; 42 (42/189, 22.0%) and 127 (127/189, 67.2%) participants were able to correctly perform the Self-TUG and Self-Tandem, respectively. In the second iteration, errors caused by the problems identified in the first iteration were drastically reduced, and 108 (108/134, 83.1%) and 106 (106/134, 79.1%) of the participants correctly performed the Self-TUG and Self-Tandem, respectively. The first version of the Self-STS was also tested in this iteration, and 40 (40/134, 30.1%) of the participants performed it correctly. For the third usability test, the 7 usability problems initially identified were further improved. Testing the apps in a home setting gave rise to some new usability problems, and for Self-TUG and Self-STS, the rates of correctly performed trials were slightly reduced from the second version, while for Self-Tandem, the rate increased. The mean System Usability Scale score was 77.63 points (SD 16.1 points), and 80-95% of the participants reported the highest or second highest positive rating on all items in the User Experience Questionnaire. CONCLUSIONS: The study results suggest that the apps have the potential to be used to self-test physical function in seniors in a nonsupervised home-based setting. The participants reported a high degree of ease of use. Evaluating the usability in a home setting allowed us to identify new usability problems that could affect the validity of the tests. These usability problems are not easily found in the lab setting, indicating that, if possible, app usability should be evaluated in both settings. Before being made available to end users, the apps require further improvements and validation

A long contiguous stretch of homozygosity disclosed a novel stag3 biallelic pathogenic variant causing primary ovarian insufficiency: A case report and review of the literature

Primary ovarian insufficiency (POI) refers to an etiologically heterogeneous disorder characterized by hypergonadotropic hypogonadism that represents a major cause of infertility in women under 40 years of age. Most cases are apparently sporadic, but about 10–15% have an affected first-degree relative, indicating a genetic etiology. Pathogenic variations in genes involved in development, meiosis and hormonal signaling have been detected in the hereditary form of the disorder. However, most cases of POI remain unsolved even after exhaustive investigation. A 19-year-old Senegalese female affected by non-syndromic POI presented with primary amenorrhoea and answered well to the hormonal induction of puberty. In order to investigate the presence of a genetic defect, aCGH-SNP analysis was performed. A 13.5 Mb long contiguous stretch of homozygosity (LCSH) was identified on chromosome 7q21.13-q22.1 where the exome sequencing revealed a novel homozygous 4-bp deletion (c.3381_3384delAGAA) in STAG3. Pathogenic variants in this gene, encoding for a meiosis-specific protein, have been previously reported as the cause of POI in only eight families and recently as the cause of infertility in a male. The here-identified mutation leads to the truncation of the last 55 amino acids, confirming the important role in meiosis of the STAG3 C-terminal domain

Li 1s core exciton in LiH studied by x-ray Raman scattering spectroscopy

The Li 1s core excitation spectra in LiH was studied by means of x-ray Raman scattering (XRS) spectroscopy in a wide range of momentum transfers q. The analysis of the near-edge region of the measured spectra in combination with q-dependent ab initio calculations of XRS spectra based on the Bethe-Salpeter equation (BSE) reveals that the prominent peak at the excitation onset arises from two main contributions, namely a pre-edge peak associated to a p-type core exciton and strong transitions to empty states near the bottom of the conduction band, which is in contrast to previous experimental studies that attributed that feature to a single excitonic peak. The p-like angular symmetry of the core exciton is supported by BSE calculations of the relative contributions to the XRS spectra from monopole and dipole transitions and by the observed decrease of its normalised intensity for increasing momentum transfers. Higher energy spectral features in the measured XRS spectra are well reproduced by BSE, as well as by real-space multiple-scattering calculations.Peer reviewe

Copy number variations residing outside the SHOX enhancer region are involved in Short Stature and Léri-Weill dyschondrosteosis

Background: SHOX enhancer CNVs, affecting one or more of the seven recognized evolutionary conserved non-coding elements (CNEs) represent one of the most frequent cause of SHOX-haploinsufficiency. During the diagnostic workflow deletions/duplications have been identified downstream SHOX not including any of the these CNEs. Methods: Fine tiling aCGH and breakpoint PCR were used to characterize the critical interval and to search for novel alterations in a cohort of selected patients. Results: Screening of 252 controls provided evidence that duplications in this area represent likely benign variants whereas none of the deletions were detected. These findings suggested that other alterations relevant for SHOX-haploinsufficiency might be missed by the standard diagnostic methods. To identify such undisclosed elements, the aCGH was used to reanalyze 52 unresolved cases with clinical features strongly suggestive of SHOX-haploinsufficiency. This analysis followed by the screening of 210 patients detected two partially overlapping small deletions of ~12 and ~8 kb in four unrelated individuals, approximately 15 kb downstream SHOX, that were absent in 720 normal stature individuals. Conclusion: Our results strengthen the hypothesis that alterations of yet unidentified cis-regulatory elements residing outside those investigated through conventional methods, might explain the phenotype in ISS/LWD patients thus enlarging the spectrum of variants contributing to SHOX-haploinsufficiency

Induction of fibroblast senescence generates a non-fibrogenic myofibroblast phenotype that differentially impacts on cancer prognosis

Cancer-associated fibroblasts (CAF) remain a poorly characterized, heterogeneous cell population. Here we characterized two previously described tumor-promoting CAF sub-types, smooth muscle actin (SMA)-positive myofibroblasts and senescent fibroblasts, identifying a novel link between the two

A Genome-Wide Screen Identifies Genes That Affect Somatic Homolog Pairing in Drosophila

In Drosophila and other Dipterans, homologous chromosomes are in close contact in virtually all nuclei, a phenomenon known as somatic homolog pairing. Although homolog pairing has been recognized for over a century, relatively little is known about its regulation. We performed a genome-wide RNAi-based screen that monitored the X-specific localization of the male-specific lethal (MSL) complex, and we identified 59 candidate genes whose knockdown via RNAi causes a change in the pattern of MSL staining that is consistent with a disruption of X-chromosomal homolog pairing. Using DNA fluorescent in situ hybridization (FISH), we confirmed that knockdown of 17 of these genes has a dramatic effect on pairing of the 359 bp repeat at the base of the X. Furthermore, dsRNAs targeting Pr-set7, which encodes an H4K20 methyltransferase, cause a modest disruption in somatic homolog pairing. Consistent with our results in cultured cells, a classical mutation in one of the strongest candidate genes, pebble (pbl), causes a decrease in somatic homolog pairing in developing embryos. Interestingly, many of the genes identified by our screen have known roles in diverse cell-cycle events, suggesting an important link between somatic homolog pairing and the choreography of chromosomes during the cell cycle

Can smartphone technology be used to support an effective home exercise intervention to prevent falls amongst community dwelling older adults?: The TOGETHER feasibility RCT study protocol

INTRODUCTION: Falls have major implications for quality of life, independence and cost to the health service. Strength and balance training has been found to be effective in reducing the rate/risk of falls, as long as there is adequate fidelity to the evidence-based programme. Health services are often unable to deliver the evidence-based dose of exercise and older adults do not always sufficiently adhere to their programme to gain full outcomes. Smartphone technology based on behaviour-change theory has been used to support healthy lifestyles, but not falls prevention exercise. This feasibility trial will explore whether smartphone technology can support patients to better adhere to an evidence-based rehabilitation programme and test study procedures/outcome measures. METHODS AND ANALYSIS: A two-arm, pragmatic feasibility randomised controlled trial will be conducted with health services in Manchester, UK. Seventy-two patients aged 50+years eligible for a falls rehabilitation exercise programme from two community services will receive: (1) standard service with a smartphone for outcome measurement only or (2) standard service plus a smartphone including the motivational smartphone app. The primary outcome is feasibility of the intervention, study design and procedures. The secondary outcome is to compare standard outcome measures for falls, function and adherence to instrumented versions collected using smartphone. Outcome measures collected include balance, function, falls, strength, fear of falling, health-related quality of life, resource use and adherence. Outcomes are measured at baseline, 3 and 6-month post-randomisation. Interviews/focus groups with health professionals and participants further explore feasibility of the technology and trial procedures. Primarily analyses will be descriptive. ETHICS AND DISSEMINATION: The study protocol is approved by North West Greater Manchester East Research Ethics Committee (Rec ref:18/NW/0457, 9/07/2018). User groups and patient representatives were consulted to inform trial design, and are involved in study recruitment. Results will be reported at conferences and in peer-reviewed publications. A dissemination event will be held in Manchester to present the results of the trial. The protocol adheres to the recommended Standard Protocol Items: Recommendations for Interventional Trials (SPIRIT) checklist

Robustness of In-Laboratory and Daily-Life Gait Speed Measures over One Year in High Functioning 61- To 70-Year-Old Adults

Introduction: Gait speed is a simple and safe measure with strong predictive value for negative health outcomes in clinical practice, yet in-laboratory gait speed seems not representative for daily-life gait speed. This study aimed to investigate the interrelation between and robustness of in-laboratory and daily-life gait speed measures over 12 months in 61- to 70-year-old adults. Methods: Gait speed was assessed in laboratory through standardized stopwatch tests and in daily life by 7 days of trunk accelerometry in the PreventIT cohort, at baseline, and after 6 and 12 months. The interrelation was investigated using Pearson's correlations between gait speed measures at each time point. For robustness, changes over time and variance components were assessed by ANOVA and measurement agreement over time by Bland-Altman analyses. Results: Included were 189 participants (median age 67 years [interquartile range: 64-68], 52.2% females). In-laboratory and daily-life gait speed measures showed low correlations (Pearson's r = 0.045-0.455) at each time point. Moreover, both in-laboratory and daily-life gait speed measures appeared robust over time, with comparable and smaller within-subject than between-subject variance (range 0.001-0.095 m/s and 0.032-0.397 m/s, respectively) and minimal differences between measurements over time (Bland-Altman) with wide limits of agreement (standard deviation of mean difference range: 0.12-0.34 m/s). Discussion/Conclusion: In-laboratory and daily-life gait speed measures show robust assessments of gait speed over 12 months and are distinct constructs in this population of high-functioning adults. This suggests that (a combination of) both measures may have added value in predicting health outcomes