Background: Alagille syndrome (AGS) is an autosomal-dominant, multisystem disorder caused by mutations in the JAG1 gene.Case Description: A 34-year-old man was referred to our service 10 years ago with focal seizures with impaired awareness and transient slurred speech. He had a 5-year history of intermittent left monocular low-flow retinopathy. He has a family history of AGS. General examination revealed mild hypertension, aortic regurgitation, and livedo reticularis. Neurological examination was normal.Investigations: He had mild hyperlipidaemia and persistently-positive lupus anticoagulant consistent with primary anti-phospholipid syndrome. Color Doppler ultrasound revealed low velocity flow in a narrowed extracranial left internal carotid artery (ICA). MR and CT angiography revealed a diffusely narrowed extracranial and intracranial left ICA. Formal cerebral angiography confirmed severe left ICA narrowing consistent with a left ICA “vasculopathy” and moyamoya phenomenon. Transthoracic echocardiogram revealed a bicuspid aortic valve and aortic incompetence. Molecular genetic analysis identified a missense mutation (A211P) in exon 4 of the JAG1 gene, consistent with AGS.Discussion: AGS should be considered in young adults with TIAs/stroke and unexplained extracranial or intracranial vascular abnormalities, and/or moyamoya phenomenon, even in the absence of other typical phenotypic features. Gene panels should include JAG1 gene testing in similar patients.

No abstract

No abstract

Introduction: The optimal time interval after venepuncture to perform platelet function/reactivity testing at low shear stress on the novel AGGRESTAR PL-12® platelet function analyser in non-Chinese Cerebrovascular Disease (CVD) patients is unknown. Methods: Twelve TIA/ischaemic stroke patients were recruited to this cross-sectional, methodological study: 3 on aspirin monotherapy, aspirindipyridamole combination therapy, clopidogrel monotherapy and aspirinclopidogrel combination therapy, respectively. The PL-12 (‘mode 2’) was used to calculate the % maximum aggregation rate to fixed doses of arachidonic acid (%MARAA) and adenosine diphosphate (%MARADP). Samples were analysed every 15 minutes from 30-135 minutes, and every 30 minutes between 165-225 minutes after venepuncture to calculate the time interval providing optimal interassay Coefficients of Variation (CVs). Results: Mean CVs were ≤ 7.37% for the %MARAA assay in patients on aspirin monotherapy or combination therapy, and ≤ 10.24% for the %MARADP assay in patients on clopidogrel monotherapy or combination therapy if assays were performed between 90-120 minutes post-venepuncture. CVs ≤ 10% were also obtained from assays performed between 90-165 minutes postvenepuncture on aspirin monotherapy or combination therapy. Discussion: Reliable and reproducible platelet function/reactivity data can be obtained with the AGGRESTAR PL-12 analyser in non-Chinese CVD patients on commonly-prescribed antiplatelet monotherapy or combination therapy regimens between 90-120 minutes post-venepuncture.

Background Occupational Therapists routinely perform pre-discharge home assessment visits. The import of a supportive home environment to successful ageing has been established in the literature (Tanner, Tilse & Desleigh de Jonge, 2008), with housing adaptations and aids recognised as a method of promoting independence within the home (Stark et al, 2009). In this hospital, home assessment visits review functional mobility, functional transfers and assess for environmental barriers within the home. The purpose of this study was to detect any change in functional performance following a pre-discharge home assessment visit and implementation of OT recommended aids/railings or both. The AusTOMs (Australian Therapy Outcome Measures) for Occupational Therapy scale was used as the outcome measurement tool. Methods The study was applied to a cohort of 20 consenting inpatients over 65 years of age. Convenience sampling was used for the purposes of the study. Inclusion criteria comprised of patients that attended a minimum of one pre-discharge OT home assessment visit. It was conducted over a ten week period in 2018. The study was conducted by two occupational therapists (OTs) on the general rehabilitation team. The scale was applied to review the following functional transfers within the home environment on initial home assessment visit and following the implementation of OT recommended aids/railings. 1. Access2. Stairs3. Bed4. Toilet5. Bath/Shower6. Seating Results The group Average AusTOMs Resultant score at initial home assessment was 3.05. The group average score following implementation of recommendations was 4.08. This indicates a change in performance from a Moderate Limitation experience to a Mild Limitation experience. This is reflected in Paired T test results. The two-tailed P value is less than 0.0001. Conclusion The AusTOMs Activity Limitation/Transfer scale indicated there is a positive correlation with the provision of OT recommended aids and equipment at improving functional transfer performance within the home context.