Irish journal of medical science
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Review
A review of consanguinity in Ireland--estimation of frequency and approaches to mitigate risks.
Over half of marriages are consanguineous in some countries, and about 10 % of children worldwide have consanguineous parents. Perceived benefits of consanguineous marriage (CM) include preservation of tradition, stronger family ties, financial advantages, and bride protection. Potential harms include autosomal recessive disorders, complex congenital malformations, stillbirths, postnatal mortality. There have been no population-based data published on frequency of CM in Ireland since 1970. ⋯ Consanguineous couples desire accurate information for reproductive decisions, but may avoid hospital-based services due to language barriers, poor understanding, stigma. Uptake of genetic counselling and carrier testing is higher if a family-centred approach is provided, ideally through home visits in the couple's preferred language. Targeted education programmes enhance community awareness and have led to declines in CM elsewhere. Education of HCPs is necessary to clarify referral pathways, as many have exaggerated impressions of the genetic risks.
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Management of axillary disease in breast cancer has evolved significantly over the last two decades with the introduction of SLNB and a trend towards less radical surgery. Data from the American College of Surgeons Oncology Group Z0011 trial proposes that not all patients with positive axillary lymph nodes require completion axillary dissection. ⋯ There has been a change in clinical practice since the publication of the Z0011 trial, illustrated by a decrease in the rate of axillary clearance in node-positive breast cancers.
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This is a literature review of outcomes for patients with Guillain-Barré Syndrome (GBS) who require admission to the intensive care unit for mechanical ventilation. Respiratory distress is the leading cause of death in the acute phase, and occurs in about 25 % of patients. ⋯ Accurate data are limited by the fact that these studies are retrospective, often covering long periods in the past. Larger, more recent, prospective, multi-centre studies will be required.
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It has been estimated that approximately 520,000 injury presentations are made to Irish accident and emergency departments each year. Fractures account for 20 % of these injuries. Circular external fixators (frames) have been shown to be a safe and effective method of treatment for long bone fractures where internal fixation is impossible or in-advisable. We present the outcomes of all frames applied at our institution for stabilisation of acute fractures over a 20-year period. ⋯ The vast majority of lower limb fractures can be treated using 'conventional' methods. Complex fractures which are not amenable to open reduction and internal fixation or cast immobilisation can be treated in a frame with excellent results. The paucity of published reports regarding the use of frames for complex trauma reflects the under-utilisation of the technique.
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Increasing demand exists for blended approaches to the development of professionalism. Trainees of the Royal College of Physicians of Ireland participated in an online patient safety programme. ⋯ An online training programme on medical error improved self-rated knowledge, attitudes and skills in junior doctors and was deemed an effective learning tool. Perceptions of work issues such as a poor culture of error reporting among doctors may prevent improved attitudes being realised in practice. Online patient safety education has a role in practice-based initiatives aimed at developing professionalism and improving safety.