Anne Paterson

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OBJECTS Optic nerve sheath diameter has been linked with intracranial pressure in previous studies. Measurement of sheath diameter using transorbital ultrasound is proposed as a clinical assessment indicator of developing hydrocephalus in the paediatric population. METHODS A retrospective review of optic nerve sheath ultrasound examinations performed in a(More)
Many genetic disorders in the Irish Traveller population follow a clan structure with certain disorders occurring only in specific clans or regions. Identification of disease genes can be simplified by comparing the genetic data of multiple patients with the same condition. However, this can be complicated for heterogeneous disorders whereby the same(More)
If admitted to Home Treatment a comprehensive package of care is offered that on average lasts two to three weeks but can extend up to twelve weeks and may involve several visits per day. Patients and carers are actively involved, with support and education comprising a significant part of the treatment delivered. Being within the home enables robust(More)
Morquio disease (mucopolysaccharidosis type IV) is an autosomal recessive lysosomal storage disorder causing predominantly skeletal manifestations. It is caused by a deficiency of galactose-6-sulphatase. In classical Morquio disease there is extreme short stature with height being between 90 and 120 cm. We have identified 10 individuals in Northern Ireland(More)
The minimum prevalence of lethal Osteogenesis imperfecta type II, thanatophoric dysplasia and achondroplasia were derived following detailed case note review of all perinatal lethal skeletal dysplasias (SD) in Northern Ireland over a 12 year period. Multiple sources of ascertainment, including genetic notes, radiological reports and post mortem findings,(More)
Small bowel intussusceptions are much less common than the ileocolic type, with jejunoileal intussusceptions being amongst the most rare1. We review the literature on small bowel intussuception, using a case of an 11-year-old girl with a jejunoileal intussusception involving the whole of the small bowel, from the level of the duodenojejunal flexure to the(More)
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