Clinical medicine (London, England)
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This article provides an overview of selected genetic skin conditions where multiple inherited cutaneous tumours are a central feature. Skin tumours that arise from skin structures such as hair, sweat glands and sebaceous glands are called skin appendage tumours. These tumours are uncommon, but can have important implications for patient care. ⋯ These tumours may not display clinical features that allow a secure diagnosis to be made, necessitating biopsy and dermatopathological assessment. Coupled with robust clinical assessment, biopsy findings can guide genetic testing as, increasingly, the causative genes are known for these conditions. Here we review illustrative examples of appendageal tumours and relevant advances made in genetic discovery, and suggest when referral to a geneticist may need to be considered.
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Physicians reading this will have a broad range of in-depth knowledge about their own subspecialty. However, in daily medical practice there are topics of which all physicians should have some knowledge. ⋯ This article is intended to provide an overview of young people with hearing impairment (HIYP), the challenges they face and what we can do to help them. In this paper, we assume that data published regarding hearing-impaired children apply to HIYP from 13 years (the age at which the transition process begins) to 25 years of age (the age at which 'youth' according to the World health Organization and the Education Health Care Plan ends).
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The Human Microbiome Project began 10 years ago, leading to a significant growth in understanding of the role the human microbiome plays in health and disease. In this article, we explain with an emphasis on the lung, the origins of microbiome research. We discuss how 16S rRNA gene sequencing became the first major molecular tool to examine the bacterial communities present within the human body. ⋯ We also discuss the lung microbiome in the context of disease by giving examples of important respiratory conditions. In addition, we draw attention to the challenges for metagenomic studies of respiratory samples and the importance of systematic bacterial isolation to enable host-microbiome interactions to be understood. We conclude by discussing how knowledge of the lung microbiome impacts current clinical diagnostics.
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Global developmental delay and intellectual disability are phenotypically and genetically heterogeneous and a specific diagnosis is not reached in many cases. This paper outlines a systematic approach to global developmental delay and intellectual disability.
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Although Influenza vaccination is recommended for healthcare workers, vaccination rates in UK healthcare workers are only around 50%. We investigated the association between NHS sickness absence rates (using data from Health and Social Care Information Centre quarterly reports), staff vaccination rates and influenza vaccine efficacy (from Public Health England), influenza deaths (from the Office of National Statistics) and staff satisfaction (from www. NHSstaffsurveys.com). ⋯ Higher NHS trust vaccination rates were associated with reduced sickness absence (β = -0.425 [95% CI -0.658 to -0.192], p<0.001). Thus, a 10% increase in vaccination rate would be associated with a 10% fall in sickness absence rate. Influenza vaccination for NHS staff is associated with reduced sickness absence rates.