Safety monitoring of the newer disease modifying therapies in multiple sclerosis patients in Mater Dei hospital

Patients with highly active Multiple Sclerosis can be started on the newer pharmaceutical agents, Dimethyl Fumarate or Fingolimod. Safety monitoring recommended includes regular blood analysis and also ophthalmic tests and MRI scans in the case of Fingolimod. The aim of this audit is to verify whether timely investigations are being taken, checked and results documented in a database and whether the appropriate action is being taken should safety become a concern. Method: An Excel document shared by all four Neurology consultants documents the patients’ personal details, any baseline investigations or other recommended tests taken and the blood results taken at regular intervals. This data was analysed for accuracy by keeping it up to date. The products’ SPC recommendations were used as guidelines and the time-frame modified locally. Results: After analyzing all the blood tests taken while on Dimethyl fumarate, 39% of patients took their regular blood tests on time; 31% were not taken on time and 30% had no blood tests taken at all. On the other hand, only 59% of patients on Fingolimod took their blood tests on time. 82% of the blood results were documented in their Excel document. A repeat MRI scan 6 months after starting Fingolimod showed that only 53% took it on time. Conclusion: Using an Excel document was a trial to try and ensure compliance with these recommendations. However, this audit clearly documents that it is not enough to follow patients on a regular basis, highlighting the need for a specialist nurse to monitor such patients.peer-reviewe

A review on the investigation of peripheral neuropathy at Mater Dei Hospital

The term peripheral neuropathy encompasses a wide range of disorders. The underlying causes of peripheral neuropathy are diverse. It is very difficult to ascertain the incidence of peripheral neuropathy with any degree of certainty, but it is a manifestation of several common multisystem disorders, whose incidence is on the rise, such as diabetes and Human Immunodeficiency (HIV) virus infection. Worldwide, the population prevalence is about 2,400 per 100,000 (2.4%), rising with age to 8,000 per 100,000 (8%).1 Peripheral neuropathy can significantly impact an individual's quality of life especially if undiagnosed and untreated. Investigation of peripheral neuropathy is expensive and time consuming, and is best performed in a stepwise approach. Even in the best of circumstances, an aetiological diagnosis is not always achieved. At present, the existing guidelines deal with the treatment of peripheral neuropathy but there are none on how patients with peripheral neuropathy should be investigated.peer-reviewe

Stroke patients' interpretation of symptoms and presentation to hospital

The aim of this study was to elucidate patient interpretation of stroke symptoms and to investigate factors which influence timely presentation to hospital. Methods: All patients admitted to Mater Dei Hospital with a diagnosis of cerebrovascular accident (CVA) or transient ischaemic attack (TIA) between July and September 2011 were recruited prospectively. Data was collected by patient interview and with reference to medical notes in order to determine patient risk factors for stroke, knowledge on stroke, interpretation of stroke symptoms and time interval to presentation to hospital. Results: The cohort studied (N=54) had an average age of 67.9 years (SD=10.407). The risk factors for cerebrovascular disease most frequently found in this group were hypertension (56\%), hypercholesterolaemia (56%), family history of stroke (41%) and smoking (39%). Participants interpreted their symptoms as stroke in 33% of cases (n=18), whereas 48% reported that they did not know or suspect any particular cause at the time. The perceived severity of events at symptom onset was reported as ‘high’ by 41% and ‘low’ by 57%. Only 31\% of participants (n=17) recognised the brain as the organ primarily affected in stroke. Forty five percent of patients sought medical advice within one hour. Fifty-six percent (n=30) first resorted to their family doctor, whilst 28% (n=15) phoned the emergency services. Family doctor as first contact was associated with delayed presentation (p = 0.007); conversely, phoning emergency services was associated with earlier presentation to A\&E. Conclusion: The results of this study highlight limited knowledge about stroke in the population involved. It also serves to clarify factors contributing to high rates of late presentation. These findings show the need for an improvement in public awareness in terms of education on stroke and the importance of early presentation to hospital.peer-reviewe

Video-EEG long term monitoring as a new service at Mater Dei Hospital

Introduction: Video-EEG long-term monitoring (LTM) was introduced into Mater Dei Hospital (MDH) in May 2012. The audit aims to evaluate LTM in terms of diagnostic outcomes and impact on patient management. Methods: Analysis was carried out after retrospective review of 30 inpatients who underwent LTM at MDH between May 2012 and May 2014. 31 LTM sessions were performed. Referrals were made by 3 consultant neurologists. LTM and medical records were compared to evaluate whether LTM determined a change in diagnosis and how this affected management outcomes. Results: Patient ages ranged from 3 months to 73 years (35.5% paediatric cases) (16 male , 15 female studies). The most common indication was for uncontrolled seizures (54.8%), followed by suspected non-epileptic seizures (NES) (29%). The average hospital stay was 2 days for paediatric patients and 5 for adult cases. Major monitoring interruptions were recorded in 5 paediatric and 1 adult case. Comparing pre- with post-LTM diagnosis showed that the investigation changed or identified a new diagnosis in 38.7%, confirmed the diagnosis in 29%, and was inconclusive in 32.3% (inconclusive in 45.5% of paediatric cohort and 25% of adult cohort). It led to medication optimisation in 38.7% and neuropsychiatry referrals in 22.6%. The remaining were unchanged, not followed up or referred for other tests. None were referred for surgery. Conclusion: LTM is an important tool which influenced patient management through changes in medication or referrals in 64.5% of cases. Continuous evaluation of the techniques used and resources available is recommended to increase the yield of conclusive LTM studies.peer-reviewe

Subarachnoid Haemorrhage in Malta : Are outcomes adversely affected due to lack of a local neurovascular service?

Objective: This study was performed to assess the incidence, treatment and outcome of non-traumatic Subarachnoid Haemorrhage (SAH) in an island which does not offer a neurovascular service and to determine whether such limitation is associated with a poor outcome. Method: Data of adult patients with a diagnosis of non-traumatic SAH was analysed retrospectively over a two-year period from January 01, 2009 to December 31, 2010. Results: The incidence of SAH in Malta is 3.16 cases per 100 000 population per year. An underlying aneurysm was found in 50% of all cases investigated with angiography. These patients were transported to the United Kingdom for definitve management and the outcome of all these patients at 6 months was excellent. (modified Rankin Scale of 0 or 1). Conclusions: With the incidence of non-traumatic SAH being in the low range, setting up an interventional neuroradiology service in our country to treat aneurysmal SAH would not have the required numbers to maintain expertise and would probably translate into worse clinical outcomes. Despite having geographical and logistic limitations, our standards of care and survival rates are not below those of other international centres. Outcomes for patients with low initial Hunt and Hess scores have not been adversely.peer-reviewe

Auditing thrombolysis service for stroke at Mater Dei Hospital

Thrombolysis for acute ischaemic stroke was introduced locally in October 2010. In 2012, the practice was audited to analyse the prevalence of inclusion and exclusion criteria for thrombolysis. Data about the local incidence of stroke, demographics and outcome was also obtained. All patients admitted to Mater Dei Hospital with a diagnosis of stroke over an 8 month period were recruited. Standard data collection sheets were used to obtain data. 251 patients were admitted with a confirmed stroke over the 8-month period. The time of onset was recorded in only 37.4% of cases. All patients had CT scanning of the brain within 24 hours of presentation, of which 70% were performed within 3 hours. The commonest 5 reasons for which thrombolysis was withheld were: presentation beyond 3 hours of symptom onset (73.7%), age over 80 years (29.9%), hypertension (13.9%), haemorrhagic stroke (13.1%) and minor deficit or rapid improvement (8.4%). Overall, only 4 patients (1.59%) were eligible for thrombolysis in our cohort, all of whom received the treatment. The study identified late presentation to A&E as the commonest exclusion criterion for thrombolysis. This prompted the launch of a stroke awareness ‘Act FAST’ campaign and increasing efforts to educate general practitioners to refer patients with acute stroke immediately. In addition, stroke pathway booklets were reviewed and simplified to increase their use. Since July 2013, the time window has been widened to 4.5 hours in accordance with international guidelines. Ongoing audit of thrombolysis is being carried out.peer-reviewe

Management of acute relapses of multiple sclerosis in Malta

INTRODUCTION/AIMS: The lack of Multiple Sclerosis (MS) specialist nurses and an increasing prevalence of MS in Malta has raised questions as to whether MS patients are receiving appropriate treatment. The quality of care for patients with MS in Malta has not been previously described in the literature. This audit aims to establish a baseline and improve the quality of management of acute relapses of MS in Malta.METHODS: a standardized questionnaire based on the NICE guidelines for the management of MS was formulated and completed during a one-on-one interview. 35 patients diagnosed with Relapsing Remitting Multiple Sclerosis (RRMS) were recruited from outpatient clinics and in-patients stays with a mean patient age of 39. All participants recruited were diagnosed with MS after 2004. Only the data of latest acute relapse episode was collected. The data was collected across a 9-month period in 2015 and analyzed using SPSS.RESULTS: 34% revealed a delay in presentation and access to treatment, 11% exhibited poor recognition of acute relapses and 47% admitted to lack of awareness of treatment side-effects.CONCLUSION: A significant proportion of patients with an acute relapse in the Maltese population require better education and access to be available for more prompt presentation and management. A better-informed patient and a dedicated specialist nurse service may improve the quality of care.peer-reviewe

Transcatheter device closure of atrial septal defect and patent foramen ovale in Malta

Significant atrial septal defects (ASD) are closed, surgically or through a transcatheter device, in order to avoid pulmonary hypertension in late life. A patent foramen ovale (PFO) may need to be closed because of transient shunt reversal resulting in transient ischaemic events or stroke. We report the Maltese experience to date in transcatheter closure of these defects. A total of 46 ASDs and 51 PFOs have been successfully closed at our unit (total 97), with very low complication rates, rates that compare very favourably with results from larger international centres.peer-reviewe

Benchmarking local practice in view of introduction of thrombolysis for stroke in Malta

The aim of the study was to benchmark the quality of local stroke care in view of introduction of thrombolysis. Stroke patients admitted to Mater Dei Hospital over 6 weeks in 2008 were recruited. A questionnaire based on the 2006 Royal College of Physicians (RCP) National Sentinel Stroke Audit phase II (Clinical Audit) was used. Results were compared to the 2008 RCP National Sentinel Stroke Audit phase II (Clinical Audit) report. 42 confirmed strokes were admitted. All patients underwent CT scanning within 24 hours. 97% received aspirin within 48 hours. 26.2% spent >50% of their stay in the neurology ward. 81% were discharged alive. At 24 hours from admission, 54.7% were not screened for swallowing. 47.6% were not assessed by an occupational therapist. 81% were assessed by physiotherapy at 72 hours of admission. None of the patients had documented goals set by a multi- disciplinary team. If thrombolysis were available, 16.7% would have been eligible. The commonest contraindications were late presentation (52.4%) and age >80 years (35.7%). Local results compared well to the RCP 2008 results in initiation of aspirin, imaging, and nutrition. However, we noted need for improvement in the assessment of swallowing, mood and cognitive function as well as involvement of a multidisciplinary team. Since then, adherence to international guidelines has improved by the introduction of thrombolysis, a dedicated multidisciplinary service and the use of local guidelines for stroke.peer-reviewe

Genetic landscape of ALS in Malta based on a quinquennial analysis

Genetic risk for amyotrophic lateral sclerosis (ALS) is highly elevated in genetic isolates, like the island population of Malta in the south of Europe, providing a unique opportunity to investigate the genetics of this disease. Here we characterize the clinical phenotype and genetic profile of the largest series of Maltese ALS patients to date identified throughout a 5-year window. Cases and controls underwent neuromuscular assessment and analysis of rare variants in ALS causative or risk genes following whole genome sequencing. Potentially damaging variants or repeat expansions were identified in more than 45% of all patients. The most commonly affected genes were ALS2, DAO, SETX and SPG11, an infrequent cause of ALS in Europeans. We also confirmed a significant association between ATXN1 intermediate repeats and increased disease risk. Damaging variants in major ALS genes C9orf72, SOD1, TARDBP and FUS were however either absent or rare in Maltese ALS patients. Overall, our study underscores a population that is an outlier within Europe and one that represents a high percentage of genetically explained cases.peer-reviewe