Clinical medicine (London, England)
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Approximately 13% of people living with HIV in the UK are unaware of their infection. New diagnoses among people ≥50 years is increasing. Unique factors may be associated with testing in this group. ⋯ Although being encouraged to test was a common facilitator, clinicians' preconceptions about older people was the biggest barrier. This shows a divide between clinicians' preconceptions and patients' expectations, which may impact on testing rates. This review is an important first step in identifying potential barriers/facilitators for further study or to be addressed in the design of future interventions.
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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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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.