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News

The ABN Australasian Fellowship is now open. Deadline 2 January 2019.

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Events

ABN Annual Meeting 2019: 21 - 23 May 2019 - The EICC, Edinburgh

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2017 Winners

Winners of the Undergraduate Prize 2017:

Petros Fessas

Clinical Case

Summary

Refractory status epilepticus (RSE) occurs when status epilepticus (SE) does not resolve with a first-line antiepileptic drug (AED), typically a benzodiazepine, and one second-line AED, such as phenytoin. The strategy usually employed to then control seizures is induction of general anaesthesia (GA). Super-refractory SE (SRSE) is one that continues for at least 24 hours after GA, including when it recurs on weaning anaesthesia. Clinical guidance on how to proceed in such cases is limited, especially in children.

This case describes an 8-year-old boy with no significant past medical history that presented with super-refractory status epilepticus. After sedation, a presumed autoimmune aetiology led to administration of steroids and immunoglobulin, as well as plasmapheresis. Lack of satisfactory response within 1 week led to emergency initiation of an enteral ketogenic diet, that led to seizure cessation within 7 days. 

The challenging clinical context of SRSE makes confidently attributing improvement to the ketogenic diet impossible. This is also reflected in the limited clinical evidence. A literature review yielded 9 case series and 1 case series review. Out of 76 cases of paediatric RSE/SRSE, 47 (61.8%) saw seizures entirely aborted. In 2 (2.6%), the KD was followed by a seizure reduction (SR) of 75-99%, in 9 (11.8%) a SR of 50-74%, in 5 (6.6%) a SR of 1-49%, and in 11 (14.5%) it produced no response. 

The case contributes to the argument that supports moving towards generating more robust evidence for the efficacy of KD in RSE/SRSE, a clinical situation currently lacking consensus.

 

Aaron Jesuthasan 

Research

Investigating autosomal dominant vasovagal syncope using exome analysis

Summary

INTRODUCTION: Vasovagal syncope (VVS) is the most common cause of syncope in children and adults. Injury and road traffic accidents are potential complications.  Previous studies suggest a genetic component accounts for approximately 20% of VVS cases, although the genes responsible are not always identified.  For my project, I studied the DNA of two distantly related individuals with VVS enrolled into the 100, 000 Genomes Project to identify causal mutations.  

METHOD: DNA was extracted from the patients, and analysed using an Ingenuity Variant Analysis program to detect the presence of mutations.  The severity of each detected mutation was then examined using two programs: Sorting Intolerant from Tolerant (SIFT) and Polymorphing Phenotyping v2 (PolyPhen-2).  

RESULTS: Using the Ingenuity Variant Analysis program, a mutation in the ACE (Angiotensin Converting Enzyme), EPAS1 (Endothelial PAS Domain Protein 1) and PLCG2 (Phospholipase C Gamma 2) genes of the VVS patients were identified.  Further analysis using the SIFT and PolyPhen-2 programs indicated the ACE mutation was likely to produce a defective protein whilst the EPAS1 and PLCG2 mutations were not likely to have any effect on protein function.

CONCLUSION: My results support the involvement of the ACE mutation in the cause of VVS in the two studied patients.  This may point towards a novel target for therapy within the individuals, although further work is needed to validate my findings. 

 

Matthew Myres

Audit

Summary

Malignant middle cerebral artery (MCA) syndrome (MMS) occur as a complication of up to 10% of MCA strokes and is associated with high morbidity and mortality. The Wessex Modified Richmond Sedation Scale (WMRSS) has been devised with the aim of improving the early identification of patients developing MMS in order to guide decision-making for decompressive hemicraniectomy. The objective of this study was to evaluate the WMRSS against the current standard of GCS monitoring.

A retrospective study investigated all patients admitted to the Wessex Neurological Centre for observation of MMS over a 2.5-year period. Subjects were monitored for 120 hours from ictus; we assessed compliance with monitoring, appropriate escalation by nurses and the intervention chosen at each point of suspected clinical deterioration.

There were no demographic differencesbetween the 2 subject groups, those admitted before and those after introduction of the WMRSS. There was substantial variability in the hourly recording of either GCS or WMRSS, as well as in the proportion of WMRSS score deteriorations that were escalated to the medical team. The time to reach clinical deterioration was not significantly different with either scoring system (p=0.9). GCS showed more non-clinically relevant drops than WMRSS (p=0.033).

The WMRSS is a novel scoring system for MMS, with the preliminary data suggesting that it is at least as accurate as GCS, and may provide a more stable measure of consciousness over extended periods of monitoring. Continued observations and re-evaluation based on reductions in consciousness may be appropriate triggers for surgery.

News

The ABN Australasian Fellowship is now open. Deadline 2 January 2019.

Read More

Events

ABN Annual Meeting 2019: 21 - 23 May 2019 - The EICC, Edinburgh

Read More