Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex. Consistent with the observation of shortened telomeres in an Arabidopsis CTC1 mutant and the phenotypic overlap of Coats plus with the telomeric maintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres in three individuals with Coats plus and an increase in spontaneous γH2AX-positive cells in cell lines derived from two affected individuals. CTC1 is also a subunit of the α-accessory factor (AAF) complex, stimulating the activity of DNA polymerase-α primase, the only enzyme known to initiate DNA replication in eukaryotic cells. Thus, CTC1 may have a function in DNA metabolism that is necessary for but not specific to telomeric integrity

To explore the emerging concerns of COVID-19 related issues amongst health care workers, members of a range of healthcare organisations, governmental agencies, and the media, and online self-administered survey of healthcare workers was undertaken by the British Association of Physicians of Indian Origin in April 2020. Results The respondents were predominantly hospital doctors (67%), aged between 40-60 years (72%) and from Black, Asian, and Minority Ethnicity (BAME) backgrounds in the UK (86%). Thirty percent of respondents had one or more vulnerable comorbidities. Over 78% reported either lack of, or inappropriate Personal Protective Equipment (PPE) for their role and 68% of respondents felt that they were unable to comply with or that it was impractical to adhere to social distancing at work (including commuting). At the time of the survey, 18.5% of respondents reported having a confirmed or suspected diagnosis of COVID-19. In multivariate analysis, the BAME community emerged as an independent risk factor (OR 1.45) for COVID-19 when adjusted for confounding factors. Conclusions These results add to the emerging concerns expressed internationally on the observation that BAME ethnicity appears to have a higher risk of developing COVID-19. This is the first study that adjusted work-related factors (inability to maintain social distancing and inadequate PPE) and comorbidities. Our work supports the imperative for designing and conducting urgent larger studies to understand this risk and plan appropriate mitigation of the risks to health care workers

Differential Attainment Healthcare professionals are among the most respected, valued members in any society- and also the most regulated. It attracts some of the most talented, innovative and resilient individuals who are keen to do good. Respect, job satisfaction and autonomy are fundamental to the experience of any professional, and often valued above financial or material reward. Doctors are no different. Education and training of the healthcare workforce is a lengthy and resource intense process. No nation-state can be truly self-sufficient. Hence workforce migration is a reality where various pull and push factors lead to professionals moving across countries and continents, in the service of populations. Society is divided along many lines and steeped with structural inequalities. Many of these are the result of thousands of years of history, legacy and societal wrongs. Healthcare services and professionals reflect similar patterns of the 'big society'. The phenomenon of differential attainment (DA), which is the subject of this report is simply a manifestation of such structural inequalities. DA or differential outcomes for doctors due to their age, race, gender, sexual orientation, ethnicity, disability, socio-economic deprivation or influenced by migrant status - rather than motivation, ability, effort or enterprise. DA is fundamentally unfair. Those affected by DA are either unaware or unable to counteract the influence on their careers. DA leads to demoralisation, disengagement and poor outcomes for professionals and their patients. It takes its toll not only on careers but on lives and livelihoods. DA leads to a huge under-utlisation of human resources- a true waste of talent and enterprise. This report- BTG21 focuses on DA in the medical profession exploring the career cycle through the themes of recruitment, assessments, career progression, research & academia, leadership roles, awards and professionalism. BTG21 is people-centred and in tackling inequalities offers solutions on career fulfillment and wellbeing- by an ideological shift of hearts and minds. Thematic Synthesis BTG21 summary report is the culmination of a thematic synthesis of evidence covering the full spectrum of medical careers. It presents lived experiences (collected through mixed method approaches) capturing patterns in peoples experiences through an online survey, and in-depth qualitative interviews with a purposive sample of professionals from across the career cycle, range of ethnic heritage, medical specialism and country of origin. Followed by consensus developed through workshops by a triumvirate of experts, stakeholders and grassroots professionals. There are 5 primary causes of DA- bias, social class & deprivation, immigration status, geographical and individual factors and impacts every stage of medical professional careers. The thematic synthesis reviews are published in the Sushruta Journal of Health Policy. Recommendations The Workshop discussions, recommendations (the 10-point plan) include policy enablers, immediate actions and research questions in the following areas; Tackling bias Embracing diversity & inclusion Celebrating the contribution of migrants Leveling the playing field Inclusive leadership & accountability Removing structural barriers Review-Reform-Rethink assessments Redefining professionalism Disaggregation-intersectionality-benchmarking of data Support-flexibility & Wellbeing

Emerging data from COVID-19 pandemic shows a trend for increased risk for healthcare workers in the UK, compared to other countries. In addition, there is a disproportionately high risk observed in healthcare workers from Black, Asian & Minority Ethnic backgrounds. This high risk is independent of biological or demographic variables. This paper presents sub-analysis of a larger survey of healthcare workers, particularly describing possible occupational risk of COVID-19 in a subset of doctors in UK hospitals from a BAME background. The results show higher rates of inability to access personal protection or comply with social distancing. The inability to self-isolate was associated with a 1.7x higher risk of COVID-19. The results of this survey suggest further research is needed to explore and understand institutional factors that may explain excess risks to BAME hospital doctors.

Marshall-Smith syndrome is characterized by overgrowth, advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features and variable mental retardation. Respiratory problems are a major cause of early morbidity and mortality. Ocular features have been mentioned in previous reports, but details are limited. This report describes the clinical features of a child with typical features of Marshall-Smith syndrome with emphasis on visual function. She had megalocornea, hypoplastic optic discs and was partially sighted. Aggressive management of the early respiratory and feeding problems improved survival in this child.