Irish journal of medical science
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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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Investigation of patients, particularly children, with unexplained global developmental delay (GDD)/learning disability (LD) has been challenging due to a lack of clear guidance from specialised centres. Limited knowledge of rare diseases and a poor understanding of the purpose or limitations of appropriate investigations have been some of the principal reasons for this difficulty. ⋯ It is hoped that these recommendations will become national guidelines for the first line metabolic, genetic and radiological investigation of patients presenting with unexplained GDD/ID.
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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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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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The discharge document summarising an acute inpatient stay in hospital is often the only means of communication between secondary and primary care. This is especially important in the elderly population who have multiple morbidities and are often on many medications. ⋯ This study showed that the information assessed was available in the vast majority of discharge summaries for patients admitted acutely under the care of this medicine for the elderly service. Improvements can be made, including documentation of follow-up plans.