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Headache disorders are disabling and have a significant impact on productivity. The relationship between these two consequences is of considerable economic and political interest. We enquired into it through a systematic search of the English-language literature.

We followed PRISMA guidelines in specifying search terms and syntax and in article selection. We used the term "disability" in the search, accepting any meaning that authors attached to it, but this proved problematic. Accordingly, we adopted the definition used in the Global Burden of Disease study. In article selection, we included only those that purported to measure disability as so defined and lost productivity. HG-9-91-01 mw We reviewed the full texts of those selected. We included further articles identified from review of the bibliographies of selected articles.

The literature search found 598 studies, of which 21 warranted further review. Their bibliographies identified another four of possible relevance. On full-text reading of these 25, all were rejected. Ten applied incompatible definitions of disability and/or lost productivity. Two did not measure both. Four reported lost productivity but not disability. Eight studies reported and measured both but did not assess the association between them or provide the means of doing so. One was purely methodological.

The literature is silent on the relationship between headache-attributed disability and lost productivity. In view of its health economic and political importance, empirical studies are required to remedy this. A prerequisite is to clarify what is meant by "disability" in this context.

The literature is silent on the relationship between headache-attributed disability and lost productivity. In view of its health economic and political importance, empirical studies are required to remedy this. A prerequisite is to clarify what is meant by "disability" in this context.

Approximately 545,000 women and girls in the USA have undergone Female Genital Mutilation/ Cutting (FGM/C) or have mothers from a country where FGM/C is practiced. Women and girls living with FGM/C in the USA may experience stigma and bias due to their FGM/C, immigration, racial, and language status. Health care provider attitudes toward FGM/C and confidence for related clinical care may affect the quality of care, yet there are no validated instruments to measure these constructs.

We developed the instruments via review of the FGM/C literature, the development of scale items, expert review, and pre-testing. We validated the instruments using a convenience sample of providers in Arizona and Maryland. We used exploratory factor analysis (EFA) to confirm factor structures, and compared scores between known groups to assess validity.

The EFA revealed a two-factor solution for attitudes, including subscales for Negative Attitudes and Empathetic Attitudes toward FGM/C and those who practice with Cronbach's alphas of 0.814 and 0.628 respectively. The EFA for confidence revealed a two-factor solution including Confidence in Clinical FGM/C Care and Confidence in Critical Communication Skills for FGM/C Care with Cronbach's alphas of 0.857 and 0.694 respectively.

Health care provider attitudes and confidence toward FGM/C care may affect quality of care and health outcomes for women and girls. Our study describes the rigorous psychometric analysis to create reliable and valid instruments to assess health care provider attitudes and confidence for the care of women and girls who have experienced FGM/C.

ClinicalTrials.gov , NCT03249649 . Registered on 15 August 2017. Retrospectively registered.

ClinicalTrials.gov , NCT03249649 . Registered on 15 August 2017. Retrospectively registered.

Pathogenic variants of the AUTS2 (Autism Susceptibility candidate 2) gene predispose to intellectual disability, autism spectrum disorder, attention deficit hyperactivity disorder, facial dysmorphism and short stature. This phenotype is therefore associated with neurocognitive disturbances and social cognition, indicating potential functional maladjustment in the affected subjects, and a potentially significant impact on quality of life. Although many isolated cases have been reported in the literature, to date no families have been described. This case reports on a family (three generations) with a frameshift variant in the AUTS2 gene.

The proband is 13 years old with short stature, dysmorphic features, moderate intellectual disability and autism spectrum disorder. His mother is 49 years old and also has short stature and similar dysmorphic features. She does not have autism disorder but presents an erotomaniac delusion. Her cognitive performance is heterogeneous. The two aunts are also of short stature. The 50-year-old aunt has isolated social cognition disorders. The 45-year-old aunt has severe cognitive impairment and autism spectrum disorder. The molecular analysis of the three sisters and the proband shows the same AUTS2 heterozygous duplication leading to a frame shift expected to produce a premature stop codon, p.(Met593Tyrfs*85). Previously reported isolated cases revealed phenotypic and cognitive impairment variability. In this case report, these variabilities are present within the same family, presenting the same variant.

The possibility of a phenotypic spectrum within the same family highlights the need for joint psychiatry and genetics research.

The possibility of a phenotypic spectrum within the same family highlights the need for joint psychiatry and genetics research.

Whole genome duplication (WGD) events are common in the evolutionary history of many living organisms. For decades, researchers have been trying to understand the genetic and epigenetic impact of WGD and its underlying molecular mechanisms. Particular attention was given to allopolyploid study systems, species resulting from an hybridization event accompanied by WGD. Investigating the mechanisms behind the survival of a newly formed allopolyploid highlighted the key role of DNA methylation. With the improvement of high-throughput methods, such as whole genome bisulfite sequencing (WGBS), an opportunity opened to further understand the role of DNA methylation at a larger scale and higher resolution. However, only a few studies have applied WGBS to allopolyploids, which might be due to lack of genomic resources combined with a burdensome data analysis process. To overcome these problems, we developed the Automated Reproducible Polyploid EpiGenetic GuIdance workflOw (ARPEGGIO) the first workflow for the analysis of epigenetic data in polyploids.