41 research outputs found

    Neurological sequelae of lightning injury

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    Man has been exposed to lightning ever since his appearance on earth. This is particularly so when he moves about in open spaces with the risk of being struck by lightning being about 30 times greater in rural areas than in cities. Lightning strikes are not rare and fortunately, the majority survive with no long term sequelae. Any part of the peripheral or central nervous system may be involved. Of crucial importance are the points of contact, and therefore the path of current flow.peer-reviewe

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

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    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

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

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    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

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

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    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

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

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    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

    Insulin resistance in type 1 diabetes: what is ‘double diabetes’ and what are the risks?

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    In this review, we explore the concept of ‘double diabetes’, a combination of type 1 diabetes with features of insulin resistance and type 2 diabetes. After considering whether double diabetes is a useful concept, we discuss potential mechanisms of increased insulin resistance in type 1 diabetes before examining the extent to which double diabetes might increase the risk of cardiovascular disease (CVD). We then go on to consider the proposal that weight gain from intensive insulin regimens may be associated with increased CV risk factors in some patients with type 1 diabetes, and explore the complex relationships between weight gain, insulin resistance, glycaemic control and CV outcome. Important comparisons and contrasts between type 1 diabetes and type 2 diabetes are highlighted in terms of hepatic fat, fat partitioning and lipid profile, and how these may differ between type 1 diabetic patients with and without double diabetes. In so doing, we hope this work will stimulate much-needed research in this area and an improvement in clinical practice

    Fraction of all hospital admissions and deaths attributable to malnutrition among children in rural Kenya235

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    Background: Malnutrition is common in the developing world and associated with disease and mortality. Because malnutrition frequently occurs among children in the community as well as those with acute illness, and because anthropometric indicators of nutritional status are continuous variables that preclude a single definition of malnutrition, malnutrition-attributable fractions of admissions and deaths cannot be calculated by simply enumerating individual children

    Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

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    Using deep phenotyping and high-throughput sequencing, we have identified a novel type of distal myopathy caused by mutations in the Small muscle protein X-linked (SMPX) gene. Four different missense mutations were identified in ten patients from nine families in five different countries, suggesting that this disease could be prevalent in other populations as well. Haplotype analysis of patients with similar ancestry revealed two different founder mutations in Southern Europe and France, indicating that the prevalence in these populations may be higher. In our study all patients presented with highly similar clinical features: adult-onset, usually distal more than proximal limb muscle weakness, slowly progressing over decades with preserved walking. Lower limb muscle imaging showed a characteristic pattern of muscle involvement and fatty degeneration. Histopathological and electron microscopic analysis of patient muscle biopsies revealed myopathic findings with rimmed vacuoles and the presence of sarcoplasmic inclusions, some with amyloid-like characteristics. In silico predictions and subsequent cell culture studies showed that the missense mutations increase aggregation propensity of the SMPX protein. In cell culture studies, overexpressed SMPX localized to stress granules and slowed down their clearance.Peer reviewe

    Variance of the SGK1 Gene Is Associated with Insulin Secretion in Different European Populations: Results from the TUEF, EUGENE2, and METSIM Studies

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    HYPOTHESIS:Serum- and Glucocorticoid-inducible Kinase 1 (SGK1) is involved in the regulation of insulin secretion and may represent a candidate gene for the development of type 2 diabetes mellitus in humans. METHODS:Three independent European populations were analyzed for the association of SGK1 gene (SGK) variations and insulin secretion traits. The German TUEF project provided the screening population (N = 725), and four tagging SNPs (rs1763527, rs1743966, rs1057293, rs9402571) were investigated. EUGENE2 (N = 827) served as a replication cohort for the detected associations. Finally, the detected associations were validated in the METSIM study, providing 3798 non-diabetic and 659 diabetic (type 2) individuals. RESULTS:Carriers of the minor G allele in rs9402571 had significantly higher C-peptide levels in the 2 h OGTT (+10.8%, p = 0.04; dominant model) and higher AUC(C-Peptide)/AUC(Glc) ratios (+7.5%, p = 0.04) compared to homozygous wild type TT carriers in the screening population. As interaction analysis for BMIxrs9402571 was significant (p = 0.04) for the endpoint insulin secretion, we stratified the TUEF cohort for BMI, using a cut off point of BMI = 25. The effect on insulin secretion only remained significant in lean TUEF participants (BMI< or =25). This finding was replicated in lean EUGENE2 rs9402571 minor allele carriers, who had a significantly higher AUC(Ins)/AUC(Glc) (TT: 226+/-7, XG: 246+/-9; p = 0.019). Accordingly, the METSIM trial revealed a lower prevalence of type 2 diabetes (OR: 0.85; 95%CI: 0.71-1.01; p = 0.065, dominant model) in rs9402571 minor allele carriers. CONCLUSIONS:The rs9402571 SGK genotype associates with increased insulin secretion in lean non-diabetic TUEF/EUGENE2 participants and with lower diabetes prevalence in METSIM. Our study in three independent European populations supports the conclusion that SGK variability affects diabetes risk

    Country, Sex, EDSS Change and Therapy Choice Independently Predict Treatment Discontinuation in Multiple Sclerosis and Clinically Isolated Syndrome

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    We conducted a prospective study, MSBASIS, to assess factors leading to first treatment discontinuation in patients with a clinically isolated syndrome (CIS) and early relapsing-remitting multiple sclerosis (RRMS). The MSBASIS Study, conducted by MSBase Study Group members, enrols patients seen from CIS onset, reporting baseline demographics, cerebral magnetic resonance imaging (MRI) features and Expanded Disability Status Scale (EDSS) scores. Follow-up visits report relapses, EDSS scores, and the start and end dates of MS-specific therapies. We performed a multivariable survival analysis to determine factors within this dataset that predict first treatment discontinuation. A total of 2314 CIS patients from 44 centres were followed for a median of 2.7 years, during which time 1247 commenced immunomodulatory drug (IMD) treatment. Ninety percent initiated IMD after a diagnosis of MS was confirmed, and 10% while still in CIS status. Over 40% of these patients stopped their first IMD during the observation period. Females were more likely to cease medication than males (HR 1.36, p = 0.003). Patients treated in Australia were twice as likely to cease their first IMD than patients treated in Spain (HR 1.98, p = 0.001). Increasing EDSS was associated with higher rate of IMD cessation (HR 1.21 per EDSS unit, p<0.001), and intramuscular interferon-β-1a (HR 1.38, p = 0.028) and subcutaneous interferon-β-1a (HR 1.45, p = 0.012) had higher rates of discontinuation than glatiramer acetate, although this varied widely in different countries. Onset cerebral MRI features, age, time to treatment initiation or relapse on treatment were not associated with IMD cessation. In this multivariable survival analysis, female sex, country of residence, EDSS change and IMD choice independently predicted time to first IMD cessation
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