Clinical medicine (London, England)
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Review Case Reports
Lesson of the month 2: Use of thrombolysis for ischaemic stroke in pregnancy - a case report and review of literature.
A nine-week pregnant 33-year-old female presented with sudden-onset right-sided hemiparesis, hemisensory loss, dysarthria and homonymous hemianopia. She was known to have eleven previous miscarriages and used recreational drugs. A CT-head was unremarkable. ⋯ Three days post-thrombolysis the patient requested a termination of pregnancy. A subsequent transvaginal ultrasound demonstrated a missed miscarriage for which the patient underwent evacuation of retained products of conception. Multidisciplinary care ensured that her sensorimotor deficit resolved grossly with only mild dysarthria and right-hand fine motor incoordination.
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Review Case Reports
Lesson of the month 1: Obesity hypoventilation (Pickwickian) syndrome: a reversible cause of severe pulmonary hypertension.
Obesity hypoventilation syndrome (OHS) is a condition in which an individual with a body mass index >30 kg/m2 develops daytime alveolar hypoventilation (defined as a resting PaCO2 >45 mmHg) that cannot be attributed to other pathologies. It is a condition with increasing prevalence and rising cost to healthcare systems worldwide. ⋯ Here, we present the case of a female patient with OHS who presented to our centre with severe pulmonary hypertension, which resolved with appropriate treatment. We also review this clinical condition and its diagnosis and management.
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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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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.
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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.