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Epilepsy: HELP
Articles from Royal Free and University College Medical School
Based on 19 articles published since 2010
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These are the 19 published articles about Epilepsy that originated from Royal Free and University College Medical School during 2010-2020.
 
+ Citations + Abstracts
1 Review Optimising Evidence-Based Psychological Treatment for the Mental Health Needs of Children with Epilepsy: Principles and Methods. 2020

Shafran, Roz / Bennett, Sophie / Coughtrey, Anna / Welch, Alice / Walji, Fahreen / Cross, J Helen / Heyman, Isobel / Sibelli, Alice / Smith, Jessica / Ross, Jamie / Dalrymple, Emma / Varadkar, Sophia / Anonymous4521067 / Moss-Morris, Rona. ·Population, Policy and Practice Research and Teaching Department, University College London Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK. r.shafran@ucl.ac.uk. · Great Ormond Street Hospital NHS Foundation Trust, Great Ormond Street, London, WC1N 3JH, UK. r.shafran@ucl.ac.uk. · Population, Policy and Practice Research and Teaching Department, University College London Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK. · Great Ormond Street Hospital NHS Foundation Trust, Great Ormond Street, London, WC1N 3JH, UK. · Health Psychology, Institute of Psychiatry, Psychology and Neuroscience, Kings College London, London, SE1 9RT, UK. · King's College London, Strand, London, WC2R 2LS, UK. · Department of Primary Care and Population Health, UCL Medical School (Royal Free Campus), University College London, Rowland Hill Street, London, NW3 2PF, UK. ·Clin Child Fam Psychol Rev · Pubmed #31965422.

ABSTRACT: There are potent evidence-based psychological treatments for youth with mental health needs, yet they are rarely implemented in clinical practice, especially for youth with mental health disorders in the context of chronic physical illness such as epilepsy. Implementation science, the study of the translation of research into practice, can promote the uptake of existing effective interventions in routine clinical practice and aid the sustainable integration of psychological treatments with routine health care. The aim of this report was to use four implementation science methods to develop a version of an existing effective psychological treatment for mental health disorders [the Modular Approach to Treatment of Children with Anxiety, Depression or Conduct Problems (MATCH-ADTC)] for use within paediatric epilepsy services: (a) literature search; (b) iterative focus groups underpinned by normalisation process theory; (c) Plan-Do-Study-Act methods; and (d) qualitative patient interviews. Findings: Three modifications were deemed necessary to facilitate implementation in children with both mental health disorders and epilepsy. These were (a) a universal brief psychoeducational component addressing the relationship between epilepsy and mental health; (b) supplementary, conditionally activated interventions addressing stigma, parental mental health and the transition to adulthood; and (c) additional training and supervision. The intervention needed relatively little alteration for implementation in paediatric epilepsy services. The modified treatment reflected the scientific literature and the views of clinicians and service users. The multi-method approach used in this report can serve as a model for implementation of evidence-based psychological treatments for children with mental health needs in the context of other chronic illnesses.

2 Review Valproate, sexual health, and men: A narrative review. 2019

Watkins, Lance Vincent / Angus-Leppan, Heather. ·Swansea Bay University Health Board, Mental Health and Learning Disability Delivery Unit, LLwyneryr Unit, Swansea, United Kingdom. Electronic address: Lance.watkins@wales.nhs.uk. · Epilepsy Initiative Group, Royal Free London, United Kingdom; University College London, United Kingdom. ·Epilepsy Behav · Pubmed #31892466.

ABSTRACT: OBJECTIVE: This article explores current evidence about the effects of valproate (VPA) medicines on sexual health in men, how to monitor symptoms, communicate with patients, and improve clinical outcomes. There has been a lot of focus on VPA use in women of childbearing age following recent changes to prescribing regulations owing to the well-established and significant teratogenic risk. Concerns have been raised by patients and clinicians as to the risk of adverse sexual effects of VPA use in men. RESULTS: The evidence base for the effect of VPA on sexual function compared with other antiepileptic drugs (AEDs) in men is limited with no randomized controlled trials. Sexual function in men with epilepsy is complex, and there is no direct relationship between objective measures of sexual function and sexual satisfaction. Epilepsy, comorbidities, psychosocial factors, and most AEDs including VPA may cause sexual dysfunction in men, including reduced sexual desire, erectile dysfunction, and fertility problems. Sexual and reproductive function should be discussed with men prior to treatment with AEDs including VPA. CONCLUSION: Early and proactive discussion of sexual and reproductive functioning mitigates, rather than increases, the risk of sexual problems and potentially improves adherence. Sexual dysfunction in men with cognitive impairment [such as intellectual disability (ID) and dementia] may present with behavioral disturbance. Identification of sexual adverse effects of medication could significantly change treatment plans which is of particular importance for individuals with treatment resistance. We provide an information fact sheet for men to help guide prescribing discussions.

3 Review Purinergic Signalling and Neurological Diseases: An Update. 2017

Burnstock, Geoffrey. ·Autonomic Neuroscience Centre, Royal Free and University College School of Medicine, Rowland Hill Street, London NW3 2PF. United Kingdom. ·CNS Neurol Disord Drug Targets · Pubmed #27658510.

ABSTRACT: Purinergic signalling, i.e. ATP as an extracellular signalling molecule and cotransmitter in both peripheral and central neurons, is involved in the physiology of neurotransmission and neuromodulation. Receptors for purines have been cloned and characterised, including 4 subtypes of the P1(adenosine) receptor family, 7 subtypes of the P2X ion channel nucleotide receptor family and 8 subtypes of the P2Y G protein-coupled nucleotide receptor family. The roles of purinergic signalling in diseases of the central nervous system and the potential use of purinergic compounds for their treatment are attracting increasing attention. In this review, the focus is on the findings reported in recent papers and reviews to update knowledge in this field about the involvement of purinergic signalling in Alzheimer's, Parkinson's and Huntington's diseases, multiple sclerosis, amyotrophic lateral sclerosis, degeneration and regeneration after brain injury, stroke, ischaemia, inflammation, migraine, epilepsy, psychiatric disorders, schizophrenia, bipolar disorder, autism, addiction, sleep disorders and brain tumours. The use in particular of P2X7 receptor antagonists for the treatment of neurodegenerative diseases, cancer, depression, stroke and ischaemia, A2A receptor antagonists for Parkinson's disease and agonists for brain injury and depression and P2X3 receptor antagonists for migraine and seizures has been recommended. P2Y receptors have also been claimed to be involved in some central nervous disorders.

4 Review PIPs in neurological diseases. 2015

Waugh, Mark G. ·Lipid and Membrane Biology Group, Institute for Liver and Digestive Health, UCL, Royal Free Campus, Rowland Hill Street, London NW3 2PF, United Kingdom. Electronic address: m.waugh@ucl.ac.uk. ·Biochim Biophys Acta · Pubmed #25680866.

ABSTRACT: Phosphoinositide (PIP) lipids regulate many aspects of cell function in the nervous system including receptor signalling, secretion, endocytosis, migration and survival. Levels of PIPs such as PI4P, PI(4,5)P2 and PI(3,4,5)P3 are normally tightly regulated by phosphoinositide kinases and phosphatases. Deregulation of these biochemical pathways leads to lipid imbalances, usually on intracellular endosomal membranes, and these changes have been linked to a number of major neurological diseases including Alzheimer's, Parkinson's, epilepsy, stroke, cancer and a range of rarer inherited disorders including brain overgrowth syndromes, Charcot-Marie-Tooth neuropathies and neurodevelopmental conditions such as Lowe's syndrome. This article analyses recent progress in this area and explains how PIP lipids are involved, to varying degrees, in almost every class of neurological disease. This article is part of a Special Issue entitled Brain Lipids.

5 Review The effects of antiepileptic drugs on vascular risk factors: a narrative review. 2014

Katsiki, Niki / Mikhailidis, Dimitri P / Nair, Devaki R. ·Department of Clinical Biochemistry (Vascular Disease Prevention Clinics), Royal Free Hospital Campus, University College London Medical School, University College London (UCL), London NW3 2QG, UK; Second Propedeutic Department of Internal Medicine, Medical School, Aristotle University of Thessaloniki, Hippokration Hospital, Thessaloniki, Greece. · Department of Clinical Biochemistry (Vascular Disease Prevention Clinics), Royal Free Hospital Campus, University College London Medical School, University College London (UCL), London NW3 2QG, UK. · Department of Clinical Biochemistry (Vascular Disease Prevention Clinics), Royal Free Hospital, London NW3 2QG, UK. Electronic address: devaki.nair@nhs.net. ·Seizure · Pubmed #25028247.

ABSTRACT: PURPOSE: Epilepsy is associated with increased cardiovascular disease (CVD) morbidity and mortality. The exact causes of this link are not clearly defined. The role of antiepileptic drugs (AEDs) in influencing CVD risk in patients with epilepsy remains controversial. A link between epilepsy, AEDs and cardiac arrhythmias has been proposed and may be responsible for sudden unexpected death in epilepsy (SUDEP). METHODS: We searched MEDLINE up to December 1, 2013 for relevant publications using combinations of keywords. We also examined the reference list of articles identified by this search and selected those we judged relevant. These were included in this narrative review. RESULTS: AEDs may exert both beneficial and adverse cardiovascular effects. This narrative review considers the influence of AEDs on some predictors of vascular risk [i.e. weight, insulin resistance, metabolic syndrome, lipids, lipoprotein (a), C-reactive protein, homocysteine, vitamins, coagulation factors, uric acid, carotid intima media thickness, markers of oxidative status and matrix metalloproteinase-9]. Certain AEDs can also have pro-arrhythmic properties. CONCLUSIONS: AEDs may exert different effects on various established and emerging predictors of vascular risk. Furthermore, pharmacokinetic interactions between AEDs and drugs used to reduce vascular risk (e.g. statins) need to be better documented. Whether this knowledge, in terms of individualizing antiepileptic and CVD prevention treatment, will prove to be relevant in clinical practice remains to be established.

6 Review First seizures in adults. 2014

Angus-Leppan, Heather. ·Clinical Neurosciences, Royal Free London NHS Foundation Trust and Barnet Chase Farm Hospitals NHS Trust, London, UK. ·BMJ · Pubmed #24736280.

ABSTRACT: -- No abstract --

7 Review Migraine: mimics, borderlands and chameleons. 2013

Angus-Leppan, Heather. ·Department of Neurology, Barnet and Royal Free Hospitals, London, UK. heather.angus-leppan@nhs.net ·Pract Neurol · Pubmed #23906594.

ABSTRACT: Diagnostically, headache is the easy part of migraine. It is the surrounds of migraine--the aura, prodrome and postdrome--that can be most challenging, and confused with other pathologies. This article examines the definition and variants of migraine; alternative diagnoses for which migraine may be mistaken (mimics); conditions that lie between migraine and other diagnoses (borderlands) and the possible presentations of migraine posing as other conditions (chameleons). The focus is on adults, with only passing reference to children. Migraine is more often a chameleon than a mimic; and it is the careful history that usually makes the distinction. Given migraine's prevalence of 10-15%, relatively uncommon features of migraine occur quite often, in comparison with frequent manifestations of less common diseases. Thus, even rare or under-recognised presentations of migraine come into the differential diagnosis of many presentations.

8 Review Common variable immunodeficiency with coexisting central nervous system sarcoidosis: case report and literature review with implications for diagnosis and pathogenesis. 2011

Dziadzio, Magdalena / Hortobágyi, Tibor / Kidd, Desmond / Chee, Ronnie. ·Department of Immunology, Royal Free Hospital, London, UK. ·Ideggyogy Sz · Pubmed #22611619.

ABSTRACT: We describe a patient with a history of longstanding primary generalised epilepsy, on anticonvulsant therapy, who presented with fever, headache, worsening seizures and hallucinations. Among various investigations, the patient had high CSF protein and ACE levels, leptomeningeal nodular enhancement on MRI brain and non-caseating granulomas in the brain and meninges on the biopsy. The patient was diagnosed with neurosarcoidosis. Subsequently, he was found to be panhypogammaglobulinaemic and was diagnosed with probable common variable immunodeficiency (CVID). The coexistence of common variable immunodeficiency and neurosarcoidosis is rare. Typically, non-caseating granulomas in CVID patients are localised in the lymphatic tissue and solid organs. To our knowledge, there are only five reports of the granulomas of the central nervous system (CNS) in CVID. We discuss the diagnostic difficulties in this case and review the literature.

9 Article Orgasmic migraine aura: Report of two cases. 2019

Angus-Leppan, Heather / Caulfield, Alice. ·1 Clinical Neurosciences, Royal Free London NHS Foundation Trust, London, UK. · 2 University College London, London, UK. · 3 Centre for Research in Public Health and Community Care, University of Hertfordshire, Hatfield, UK. · 4 Royal Free London NHS Foundation Trust, London, UK. ·Cephalalgia · Pubmed #29682978.

ABSTRACT: BACKGROUND: Paroxysmal neurological symptoms occurring with sex cause considerable anxiety and sometimes have a serious cause. Thunderclap headache is the most well-known and requires urgent investigation at first presentation for subarachnoid haemorrhage and other significant pathologies. After exclusion of underlying causes, many prove to be primary headache associated with sexual activity. Orgasmic migraine aura without headache is not currently recognised as a clinical entity. CASE REPORTS: We report two patients with acephalgic orgasmic neurological symptoms fulfilling the criteria for migraine aura. CONCLUSIONS: The incidence of acephalgic orgasmic migraine aura is unknown. It should be considered as part of the differential of paroxysmal sex-related neurological symptoms, and clinically differentiated from fixed deficits, reversible cerebral vasoconstriction syndrome and post-orgasmic illness syndrome.

10 Article Focal epilepsy as a late complication of congenital dacryocystocele. 2018

Silva-Rosas, C / Quijada, A / Angus-Leppan, H. ·Department of Neurology & Neurosurgery, Clinical Hospital of University of Chile, Chile. Electronic address: csilros@uchile.cl. · Department of Neurology & Neurosurgery, Clinical Hospital of University of Chile, Chile. · Clinical Neurosciences, Royal Free London NHS Foundation Trust, United Kingdom; Institute of Neurology, University College London, United Kingdom; Centre for Research in Public Health and Community Care, University of Hertfordshire, United Kingdom. ·Seizure · Pubmed #30005300.

ABSTRACT: -- No abstract --

11 Article Weighing the risks of valproate in women who could become pregnant. 2018

Angus-Leppan, Heather / Liu, Rebecca S N. ·Epilepsy Initiative Group, Royal Free London, London, UK heather.angus-leppan@nhs.net. · University College London. · Centre for Research in Public Health and Community Care, University of Hertfordshire. · Epilepsy Initiative Group, Royal Free London, London, UK. ·BMJ · Pubmed #29669717.

ABSTRACT: -- No abstract --

12 Article Development of the Epilepsy Risk Awareness scale (ERA scale) for people with epilepsy. 2017

Braun, Andreas / Kendall, Sally / Cole, Christine / Smeeton, Nigel / Angus-Leppan, Heather. ·Centre for Research in Primary and Community Care, University of Hertfordshire, UK. · CHSS, University of Kent, Canterbury, UK. · Central London Community Healthcare Trust, UK. · Epilepsy Initiative Group, Royal Free London NHS Foundation Trust and University College London, UK. Electronic address: heather.angus-leppan@nhs.net. ·Seizure · Pubmed #28214711.

ABSTRACT: PURPOSE: Quality of life in people with epilepsy depends on balancing protection from risks and avoiding unnecessary restrictions. The Epilepsy Risk Awareness Checklist (ERAC) was developed to summarise an individual's safety, health care and quality of life and to facilitate communication between professionals. Although effective, the existing Checklist required quantification and shortening to increase its utility, particularly as a longitudinal tool for measuring and communicating changes over time. METHODS: 5 clinical experts, 3 people with epilepsy and 5 carers assessed the importance of each item on the ERAC questionnaire in a two-round Delphi survey. The refined Epilepsy Risk Awareness scale (ERA scale) was piloted in 30 patients to obtain an overall and sub-scale score for personal safety, health care, and quality of life domains, and was compared with the validated Seizure Severity Scale and Epilepsy Self-Management Scale. RESULTS: ERAC was shortened from 69 to 48 items to take 15-20min for completion. Pilot results showed good internal consistency for the overall ERA scale, for the Personal Safety and Health Care subscales, but less for the Quality of Life subscale. There was strong association between ERA scale and the Epilepsy Self-Management Scale, but little relationship with Seizure Severity Scale scores, which focus on individual seizures. User ratings were high. CONCLUSIONS: The ERA scale has been shortened and quantified to provide an objective measure of the risks and safety profile in people with epilepsy. The scale will be further tested for intra-rater variability and utility.

13 Article Discussing sudden unexpected death in epilepsy: Are we empowering our patients? A questionnaire survey. 2016

Keddie, S / Angus-Leppan, H / Parker, T / Toescu, S / Nash, A / Adewunmi, O / Liu, Rsn. ·Department of Neurology, National Hospital of Neurology and Neurosurgery, London WC1N 3BG, UK. · Department of Neurology, Royal Free Hospital, London NW3 2QG, UK; Neurosciences, University College London, London, UK. · Department of Neurology, Queen Square Hospital, London WC1N 3BG, UK. · Department of Neurology, Royal Free Hospital, London NW3 2QG, UK. ·JRSM Open · Pubmed #27688898.

ABSTRACT: OBJECTIVE: To examine patient knowledge about sudden unexpected death in epilepsy (SUDEP) compared to other risks in epilepsy. To explore patients' experiences surrounding SUDEP disclosure and opinions on how information should be delivered. DESIGN: A cross-sectional questionnaire. SETTING: Royal Free Hospital, London outpatient epilepsy clinics. PARTICIPANTS: New and follow-up patients attending epilepsy clinics at a London teaching hospital over six months. Patients identified as being at risk of suffering negative emotional or psychological consequences of SUDEP discussions were excluded. MAIN OUTCOME MEASURES: Patient knowledge about epilepsy risks; patient opinion regarding source, timing and delivery of SUDEP information; impact on health seeking behaviour. RESULTS: Ninety-eight per cent of patients were aware of medication adherence, 84% of factors influencing seizure frequency, 78% of driving regulations, 50% of SUDEP and 38% of status epilepticus; 72% of patients felt that SUDEP information should be given to all patients. Preferences for timing of SUDEP discussions varied between those wanting information at diagnosis (40%) and those preferring to receive it after three clinic appointments (18%) to avoid information overload at the first consultation. Emotional responses (48% positive, 38% negative) predominated over measurable behavioural change following SUDEP discussions. CONCLUSIONS: Less than half the patients knew about SUDEP and status epilepticus. Although the majority of patients with epilepsy wish to be informed about SUDEP early on in their diagnosis, information must be delivered in a way that promotes patient knowledge and empowerment.

14 Article Neurodegeneration and Epilepsy in a Zebrafish Model of CLN3 Disease (Batten Disease). 2016

Wager, Kim / Zdebik, Anselm A / Fu, Sonia / Cooper, Jonathan D / Harvey, Robert J / Russell, Claire. ·Department of Comparative Biomedical Sciences, Royal Veterinary College, Royal College Street, London, NW1 0TU, United Kingdom. · Department of Neuroscience, Physiology and Pharmacology, UCL Medical School, Royal Free Campus, Rowland Hill Street, London, NW3 2PF, United Kingdom. · Department of Nephrology, UCL Medical School, Royal Free Campus, Rowland Hill Street, London, NW3 2PF, United Kingdom. · Pediatric Storage Disorders Laboratory, Department of Basic and Clinical Neuroscience, Maurice Wohl Clinical Neuroscience Institute, Institute of Psychiatry, Psychology & Neuroscience, King's College London, 5 Cutcombe Road, London, SE5 9RX, United Kingdom. · Department of Pharmacology, UCL School of Pharmacy, 29-39 Brunswick Square, London, WC1N 1AX, United Kingdom. ·PLoS One · Pubmed #27327661.

ABSTRACT: The neuronal ceroid lipofuscinoses are a group of lysosomal storage disorders that comprise the most common, genetically heterogeneous, fatal neurodegenerative disorders of children. They are characterised by childhood onset, visual failure, epileptic seizures, psychomotor retardation and dementia. CLN3 disease, also known as Batten disease, is caused by autosomal recessive mutations in the CLN3 gene, 80-85% of which are a ~1 kb deletion. Currently no treatments exist, and after much suffering, the disease inevitably results in premature death. The aim of this study was to generate a zebrafish model of CLN3 disease using antisense morpholino injection, and characterise the pathological and functional consequences of Cln3 deficiency, thereby providing a tool for future drug discovery. The model was shown to faithfully recapitulate the pathological signs of CLN3 disease, including reduced survival, neuronal loss, retinopathy, axonopathy, loss of motor function, lysosomal storage of subunit c of mitochondrial ATP synthase, and epileptic seizures, albeit with an earlier onset and faster progression than the human disease. Our study provides proof of principle that the advantages of the zebrafish over other model systems can be utilised to further our understanding of the pathogenesis of CLN3 disease and accelerate drug discovery.

15 Article Familial limb pain and migraine: 8-year follow-up of four generations. 2016

Angus-Leppan, Heather / Guiloff, Roberto J. ·1 Clinical Neurosciences, Royal Free London NHS Foundation Trust, London, UK. · 2 University College London, UK. · 3 Faculty of Medicine and Hospital Clinico, University of Chile, Santiago, Chile. · 4 Imperial College, London, UK. ·Cephalalgia · Pubmed #26646786.

ABSTRACT: Background Migraine limb pain may be under-recognized in adults and children. There is little information about familial forms of this disorder. Objectives To describe the clinical and inheritance patterns of familial migraine limb pain over four generations and to review the evidence for limb pain as a manifestation of migraine. Methods Prospective clinical and pedigree analysis with an 8-year follow-up of 27 family members. Results Eight members of the family had benign recurrent limb pain associated with headache in a dominant inheritance pattern. Limb pain occurred before, during or after the headache, with probable or definite migraine with aura, migraine without aura and lower-half headache. The limb pain fulfilled the International Headache Society criteria for aura in six patients and also occurred without headache in three. Four members of the family had recurrent abdominal pain and/or motion sickness in childhood. Conclusions This is the first report of dominant familial limb pain temporally associated with migraine headache, starting in adulthood or starting in childhood and continuing into adulthood. A search for a genetic marker is indicated. Limb pain should be included as a childhood periodic syndrome linked to migraine and recognized as part of the migraine spectrum in adults.

16 Article Previously diagnosed influenza infections and the risk of developing epilepsy. 2015

Wilson, J C / Toovey, S / Jick, S S / Meier, C R. ·Basel Pharmacoepidemiology Unit (BPU),Division of Clinical Pharmacy and Epidemiology,Department of Pharmaceutical Sciences,University of Basel,Switzerland. · Division of Infection and Immunity,Royal Free and University College Medical School,Academic Centre for Travel Medicine and Vaccines,London,UK. · Boston Collaborative Drug Surveillance Program,Boston University School of Public Health,Lexington,MA,USA. ·Epidemiol Infect · Pubmed #25519212.

ABSTRACT: Several epidemiological studies suggest a possible involvement of viral infection in the development of epilepsy. While recent research from in vitro studies increasingly supports the role of herpes simplex virus type 1 (HSV-1) in the pathogenesis of epilepsy, little is known about the role of other viral infections such as influenza. Using data from the Clinical Practice Research Datalink (CPRD), we conducted a matched case-control analysis to assess the association between GP-diagnosed influenza infections and the risk of developing an incident diagnosis of epilepsy. During the study period 11 244 incident epilepsy cases and 44 976 matched control patients were identified. Prior exposure to influenza was reported in 7·5% of epilepsy cases and 6·7% of controls [adjusted odds ratio (aOR) 1·12, 95% confidence interval (CI) 1·03-1·22]. Prior history of 'complicated influenza', i.e. influenza associated with a possible super-infection, was associated with a slightly increased epilepsy risk (aOR 1·64, 95% CI 1·10-2·46), particularly if recorded within the 2 months preceding the epilepsy diagnosis (aOR 6·03, 95% CI 1·10-33·2). Our findings suggest that prior influenza exposure does not appear to materially alter the risk of developing epilepsy. By contrast, influenza episodes accompanied by complications were associated with a slightly increased epilepsy risk.

17 Article The urinary proteome and metabonome differ from normal in adults with mitochondrial disease. 2015

Hall, Andrew M / Vilasi, Annalisa / Garcia-Perez, Isabel / Lapsley, Marta / Alston, Charlotte L / Pitceathly, Robert D S / McFarland, Robert / Schaefer, Andrew M / Turnbull, Doug M / Beaumont, Nick J / Hsuan, Justin J / Cutillas, Pedro R / Lindon, John C / Holmes, Elaine / Unwin, Robert J / Taylor, Robert W / Gorman, Grainne S / Rahman, Shamima / Hanna, Michael G. ·Institute of Anatomy, University of Zurich, Zurich, Switzerland. · Laboratory of Mass Spectrometry and Proteomics, Institute of Protein Biochemistry-CNR, Naples, Italy. · Computational and Systems Medicine, Department of Surgery and Cancer, Imperial College London, London, UK. · South West Thames Institute for Renal Research, St Helier University Hospitals, Surrey, UK. · Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, UK. · Medical Research Council Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, University College London Institute of Neurology, London, UK. · Division of Medicine, Institute for Liver & Digestive Health, University College London, London, UK. · Centre for Haemato-Oncology, Barts Cancer Institute, Queen Mary, University of London, London, UK. · UCL Centre for Nephrology, Royal Free Hospital, London, UK. · UCL Institute of Child Health, London, UK. ·Kidney Int · Pubmed #25207879.

ABSTRACT: We studied the extent and nature of renal involvement in a cohort of 117 adult patients with mitochondrial disease, by measuring urinary retinol-binding protein (RBP) and albumin; established markers of tubular and glomerular dysfunction, respectively. Seventy-five patients had the m.3243A>G mutation and the most frequent phenotypes within the entire cohort were 14 with MELAS, 33 with MIDD, and 17 with MERRF. Urinary RBP was increased in 29 of 75 of m.3243A>G patients, whereas albumin was increased in 23 of the 75. The corresponding numbers were 16 and 14, respectively, in the 42 non-m.3243A>G patients. RBP and albumin were higher in diabetic m.3243A>G patients than in nondiabetics, but there were no significant differences across the three major clinical phenotypes. The urine proteome (mass spectrometry) and metabonome (nuclear magnetic resonance) in a subset of the m.3243A>G patients were markedly different from controls, with the most significant alterations occurring in lysosomal proteins, calcium-binding proteins, and antioxidant defenses. Differences were also found between asymptomatic m.3243A>G carriers and controls. No patients had an elevated serum creatinine level, but 14% had hyponatremia, 10% had hypophosphatemia, and 14% had hypomagnesemia. Thus, abnormalities in kidney function are common in adults with mitochondrial disease, exist in the absence of elevated serum creatinine, and are not solely explained by diabetes.

18 Unspecified Crush Injury to the Hand Following Epileptic Seizure Leading to Compartment Syndrome. 2018

Thacoor, Amitabh / Ramman, Saif / Kang, Norbert. ·Department of Plastic and Reconstructive Surgery, Royal Free Hospital, Pond Street, London, UK. ·World J Plast Surg · Pubmed #30560078.

ABSTRACT: Compartment syndrome of the forearm or leg has been well documented in the literature. However, there have been few published reports of hand compartment syndrome. We hereby present the first reported case in the literature of hand compartment syndrome secondary to an epileptic seizure. A 50-year old gentleman with known epilepsy presented to the Emergency Department following a witnessed tonic-clonic seizure. The patient's chief complaints were a grossly swollen and excruciatingly painful dominant right hand. Examination revealed severely reduced range of motion and neurovascular compromise. An emergency decompression fasciotomy was performed in the operating theatre, where severe oedema was noted with viable muscle throughout. Compartment syndrome can occur in any muscle compartment of the body, including in the hand. Any crush injury to the hand should trigger a high index of suspicion by the clinician to enable prompt recognition of this surgical emergency and initiate timely management.

19 Minor Valproate, women, and exceptional circumstances. 2018

Angus-Leppan, Heather / Shankar, Rohit / Cock, Hannah / Anonymous7410959. ·Epilepsy Initiative Group, Royal Free London NHS Foundation Trust, London, UK. · Cornwall Partnership NHS Foundation Trust, Bodmin, UK. · Atkinson Morley Regional Epilepsy Network, St George's University Hospital NHS Foundation Trust, London, UK. ·BMJ · Pubmed #30154117.

ABSTRACT: -- No abstract --