The Lived Experience of Klinefelter Syndrome: A Narrative Review of the Literature

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Juvenile idiopathic arthritis – an update on its diagnosis and management

Juvenile idiopathic arthritis (JIA) is the most common form of chronic arthritis in children and the most common cause of musculoskeletaldisability in children. Early diagnosis may be challenging, but it is essential to ensure good outcomes. This review proposes an approach tothe investigation and diagnosis of JIA. It also gives a summary of the latest available evidence-based treatment for this disease

Cenozoic evolution of the eastern Black Sea: a test of depth-dependent stretching models

Subsidence analysis of the eastern Black Sea basin suggests that the stratigraphy of this deep, extensional basin can be explained by a predominantly pure-shear stretching history. A strain-rate inversion method that assumes pure-shear extension obtains good fits between observed and predicted stratigraphy. A relatively pure-shear strain distribution is also obtained when a strain-rate inversion algorithm is applied that allows extension to vary with depth without assuming its existence or form. The timing of opening of the eastern Black Sea, which occupied a back-arc position during the closure of the Tethys Ocean, has also been a subject of intense debate; competing theories called for basin opening during the Jurassic, Cretaceous or Paleocene/Eocene. Our work suggests that extension likely continued into the early Cenozoic, in agreement with stratigraphic relationships onshore and with estimates for the timing of arc magmatism. Further basin deepening also appears to have occurred in the last 20 myr. This anomalous subsidence event is focused in the northern part of the basin and reaches its peak at 15–10 Ma. We suggest that this comparatively localized shortening is associated with the northward movement of the Arabian plate. We also explore the effects of paleowater depth and elastic thickness on the results. These parameters are controversial, particularly for deep-water basins and margins, but their estimation is a necessary step in any analysis of the tectonic subsidence record stored in stratigraphy. <br/

The Afrikaans version of the Juvenile Arthritis Multidimensional Assessment Report (JAMAR)

The Juvenile Arthritis Multidimensional Assessment Report (JAMAR) is a new parent/patient reported outcome measure that enables a thorough assessment of the disease status in children with juvenile idiopathic arthritis (JIA). We report the results of the cross-cultural adaptation and validation of the parent and patient versions of the JAMAR in the Afrikaans language. The reading comprehension of the questionnaire was tested in ten JIA parents and patients. Each participating centre was asked to collect demographic, clinical data and the JAMAR in 100 consecutive JIA patients or all consecutive patients seen in a 6-month period and to administer the JAMAR to 100 healthy children and their parents. The statistical validation phase explored descriptive statistics and the psychometric issues of the JAMAR: the three Likert assumptions, floor/ceiling effects, internal consistency, Cronbach\u2019s alpha, interscale correlations, test\u2013retest reliability, and construct validity (convergent and discriminant validity). A total of 91 JIA patients (4.4% systemic JIA, 35.1% oligoarticular, 23.1% RF negative polyarthritis, 37.4% other categories), and 98 healthy children were enrolled in one paediatric rheumatology centre. The JAMAR components discriminated well healthy subjects from JIA patients. All JAMAR components revealed satisfactory psychometric performances. In conclusion, the Afrikaans version of the JAMAR is a valid tool for the assessment of children with JIA and is suitable for use both in routine clinical practice and in clinical research

Risk, commercialism and social purpose: Repositioning the English housing association sector

Originally seen as the ‘third arm’ of UK housing policy, the independent, not-for-profit housing association sector had long been seen as effective in ‘filling the gap’ where the state or market were unable to provide for households in need. Since the 1980s in particular, successive governments had viewed housing associations in favourable terms as efficient, semi-autonomous social businesses, capable of leveraging significant private funding. By 2015, in contrast, central government had come to perceive the sector as inefficient, bureaucratic and wasteful of public subsidy. Making use of institutional theory, this paper considers this paradigm shift and examines the organisational responses to an increasingly challenging operating environment. By focusing, in particular, on large London housing associations, the paper analyses their strategic decision-making to address the opportunities and threats presented. The paper argues that in facing an era of minimal subsidy, low security and high risk, the 2015 reforms represent a critical juncture for the sector. Housing organisations face a stark dilemma about whether to continue a strategy of ‘profit for purpose’ or to embrace an unambiguously commercial ethos. The article contends that the trajectory of decision-making (although not unidirectional) leads ultimately towards an increased exposure to risk and vulnerability to changes in the housing market. More fundamentally, the attempt to reconcile social and commercial logics is likely to have wider consequences for the legitimacy of the sector

EEG functional connectivity in infants at elevated familial likelihood for autism spectrum disorder

Background Many studies have reported that autism spectrum disorder (ASD) is associated with atypical structural and functional connectivity. However, we know relatively little about the development of these differences in infancy. Methods We used a high-density electroencephalogram (EEG) dataset pooled from two independent infant sibling cohorts, to characterize such neurodevelopmental deviations during the first years of life. EEG was recorded at 6 and 12 months of age in infants at typical (N = 92) or elevated likelihood for ASD (N = 90), determined by the presence of an older sibling with ASD. We computed the functional connectivity between cortical sources of EEG during video watching using the corrected imaginary part of phase-locking values. Results Our main analysis found no significant association between functional connectivity and ASD, showing only significant effects for age, sex, age-sex interaction, and site. Given these null results, we performed an exploratory analysis and observed, at 12 months, a negative correlation between functional connectivity and ADOS calibrated severity scores for restrictive and repetitive behaviors (RRB). Limitations The small sample of ASD participants inherent to sibling studies limits diagnostic group comparisons. Also, results from our secondary exploratory analysis should be considered only as potential relationships to further explore, given their increased vulnerability to false positives. Conclusions These results are inconclusive concerning an association between EEG functional connectivity and ASD in infancy. Exploratory analyses provided preliminary support for a relationship between RRB and functional connectivity specifically, but these preliminary observations need corroboration on larger samples

Supply chain partner communication in a managed programme in the UK water industry: A case study with social network analysis

The water industry in every country aims to effectively and efficiently provide water with satisfactory quality in a sustainable and environmentally friendly manner. To this end, it is critical to achieve effective communication among the partners in water supply chain networks. In this paper, we focus on one of the UK’s largest water utility companies and its eight main contractors and analyze the factors influencing partner and network communication in a managed programme of their asset supply chain. We employ social network analysis to conduct the cross-sectional and longitudinal analysis of partner communication. Factors found to influence the communication network are grouping of projects within the programme, individual’s organisational affiliation, status, tenure, elapsed time through the programme lifecycle, and co-location. Our contributions to practice include demonstrating water programme management factors that influence communication and trust and how social network analysis can better inform them about intra-and interorganisational relationships. Moreover, the methodology introduced in this study may be applied to water management in other parts of the world

Dynamics of sputum conversion during effective tuberculosis treatment: A systematic review and meta-analysis.

BACKGROUND: Two weeks' isolation is widely recommended for people commencing treatment for pulmonary tuberculosis (TB). The evidence that this corresponds to clearance of potentially infectious tuberculous mycobacteria in sputum is not well established. This World Health Organization-commissioned review investigated sputum sterilisation dynamics during TB treatment. METHODS AND FINDINGS: For the main analysis, 2 systematic literature searches of OvidSP MEDLINE, Embase, and Global Health, and EBSCO CINAHL Plus were conducted to identify studies with data on TB infectiousness (all studies to search date, 1 December 2017) and all randomised controlled trials (RCTs) for drug-susceptible TB (from 1 January 1990 to search date, 20 February 2018). Included articles reported on patients receiving effective treatment for culture-confirmed drug-susceptible pulmonary TB. The outcome of interest was sputum bacteriological conversion: the proportion of patients having converted by a defined time point or a summary measure of time to conversion, assessed by smear or culture. Any study design with 10 or more particpants was considered. Record sifting and data extraction were performed in duplicate. Random effects meta-analyses were performed. A narrative summary additionally describes the results of a systematic search for data evaluating infectiousness from humans to experimental animals (PubMed, all studies to 27 March 2018). Other evidence on duration of infectiousness-including studies reporting on cough dynamics, human tuberculin skin test conversion, or early bactericidal activity of TB treatments-was outside the scope of this review. The literature search was repeated on 22 November 2020, at the request of the editors, to identify studies published after the previous censor date. Four small studies reporting 3 different outcome measures were identified, which included no data that would alter the findings of the review; they are not included in the meta-analyses. Of 5,290 identified records, 44 were included. Twenty-seven (61%) were RCTs and 17 (39%) were cohort studies. Thirteen studies (30%) reported data from Africa, 12 (27%) from Asia, 6 (14%) from South America, 5 (11%) from North America, and 4 (9%) from Europe. Four studies reported data from multiple continents. Summary estimates suggested smear conversion in 9% of patients at 2 weeks (95% CI 3%-24%, 1 single study [N = 1]), and 82% of patients at 2 months of treatment (95% CI 78%-86%, N = 10). Among baseline smear-positive patients, solid culture conversion occurred by 2 weeks in 5% (95% CI 0%-14%, N = 2), increasing to 88% at 2 months (95% CI 84%-92%, N = 20). At equivalent time points, liquid culture conversion was achieved in 3% (95% CI 1%-16%, N = 1) and 59% (95% CI 47%-70%, N = 8). Significant heterogeneity was observed. Further interrogation of the data to explain this heterogeneity was limited by the lack of disaggregation of results, including by factors such as HIV status, baseline smear status, and the presence or absence of lung cavitation. CONCLUSIONS: This systematic review found that most patients remained culture positive at 2 weeks of TB treatment, challenging the view that individuals are not infectious after this interval. Culture positivity is, however, only 1 component of infectiousness, with reduced cough frequency and aerosol generation after TB treatment initiation likely to also be important. Studies that integrate our findings with data on cough dynamics could provide a more complete perspective on potential transmission of Mycobacterium tuberculosis by individuals on treatment. TRIAL REGISTRATION: Systematic review registration: PROSPERO 85226

Beliefs About Medication and Uptake of Preventive Therapy in Women at Increased Risk of Breast Cancer: Results From a Multicenter Prospective Study

Introduction Uptake of preventive therapies for breast cancer is low. We examined whether women at increased risk of breast cancer can be categorized into groups with similar medication beliefs, and whether belief group membership was prospectively associated with uptake of preventive therapy. Patients and Methods Women (n = 732) attending an appointment to discuss breast cancer risk were approached; 408 (55.7%) completed the Beliefs About Medicines and the Perceived Sensitivity to Medicines questionnaires. Uptake of tamoxifen at 3 months was reported in 258 (63.2%). The optimal number of belief groups were identified using latent profile analysis. Results Uptake of tamoxifen was 14.7% (38/258). One in 5 women (19.4%; 78/402) reported a strong need for tamoxifen. The model fit statistics supported a 2-group model. Both groups held weak beliefs about their need for tamoxifen for current and future health. Group 2 (38%; 154/406 of the sample) reported stronger concerns about tamoxifen and medicines in general, and stronger perceived sensitivity to the negative effects of medicines compared with group 1 (62%; 252/406). Women with low necessity and lower concerns (group 1) were more likely to initiate tamoxifen (18.3%; 33/180) than those with low necessity and higher concerns (group 2) (6.4%; 5/78). After adjusting for demographic and clinical factors, the odds ratio was 3.37 (95% confidence interval, 1.08-10.51; P = .036). Conclusion Uptake of breast cancer preventive therapy was low. A subgroup of women reported low need for preventive therapy and strong medication concerns. These women were less likely to initiate tamoxifen. Medication beliefs are targets for supporting informed decision-making