Clinical medicine (London, England)
-
Virtually all medical specialties are impacted by genetic disease. Enhanced understanding of the role of genetics in human disease, coupled with rapid advancement in sequencing technology, is transforming the speed of diagnosis for patients and providing increasing opportunities to tailor management. ⋯ This article provides a brief overview of genomics and its current clinical applications, including its contribution to personalised medicine. Physicians will be signposted to key issues that will allow the successful implementation of genomics for rare disease diagnosis and cancer management.
-
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.
-
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.
-
Obstructive sleep apnoea (OSA), which is often overlooked in patients presenting to primary and secondary care, is an increasingly common comorbidity. The prevalence of OSA has not been studied in the unselected acute medical take. The aim of this study was to screen for the prevalence of undiagnosed OSA using the STOPBANG Questionnaire and the Epworth sleepiness scale (ESS) score in an unselected acute medical take. ⋯ The ESS was significantly increased (≥11) in 20%. On multivariate analysis, ESS continued to remain independently associated with the STOPBANG score with a p-value of 0.04. The routine use of the STOPBANG questionnaire followed by an ESS score in those with a score of ≥3 may focus evaluation for undetected OSA in the acute medical care setting.
-
A structured online survey was used to establish the views of 2,684 practising clinicians of all ages in multiple countries about the value of the physical examination in the contemporary practice of internal medicine. 70% felt that physical examination was 'almost always valuable' in acute general medical referrals. 66% of trainees felt that they were never observed by a consultant when undertaking physical examination and 31% that consultants never demonstrated their use of the physical examination to them. Auscultation for pulmonary wheezes and crackles were the two signs most likely to be rated as frequently used and useful, with the character of the jugular venous waveform most likely to be rated as -infrequently used and not useful. Physicians in contemporary hospital general medical practice continue to value the contribution of the physical examination to assessment of outpatients and inpatients, but, in the opinion of trainees, teaching and demonstration could be improved.