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Shalaby M.S.,Royal Hospital for Sick Children | Dorris L.,Paediatric Neurosciences Research Group | Carachi R.,Royal Hospital for Sick Children
Archives of Disease in Childhood: Fetal and Neonatal Edition | Year: 2014

Objective The overall effect of the reported long-term sequelae following sacrococcygeal teratoma (SCT) excision on the psychosocial and sexual development has not been addressed appropriately in the literature. The aim of this study was to evaluate the psychosocial adjustment of a national cohort of SCT patients using a validated psychosocial questionnaire. Methods Three paediatric surgery centres in Scotland were contacted to identify those SCT patients who were now 5 years or older. The main outcome measure was the Derriford Appearance Scale 59 (DAS-59) which assesses concerns of everyday living, personal relationships, self-esteem and emotional distress. Following ethical approval, age appropriate invitation letters and information sheets for both parents and patients were sent to prospective participants. Parents/ patients were contacted after 2 weeks to arrange an interview to complete the questionnaire. Results 31/48 (65%) of patients identified with SCT completed the DAS-59. Participant ages ranged from 5 to 35 years (median 12 years). 5/31 (16%) were malignant cases. There were 25 (81%) female participants and 12 (39%) patients older than 16 years. 9/31 (29%) participants indicated concern over their appearance. However, we found low levels of appearance-related distress and overall participants showed positive adjustment to personal relationships and everyday living on the DAS-59. Conclusions This is the first study looking at the psychosocial adjustment of patients with SCT using a validated psychosocial questionnaire. Encouragingly, we found low levels of appearance-related distress. Future research could identify those factors associated with increased risk of poorer outcomes and highlight those in need of psychological intervention.

Rice G.I.,University of Manchester | Del Toro Duany Y.,Harvard University | Jenkinson E.M.,University of Manchester | Forte G.M.A.,University of Manchester | And 55 more authors.
Nature Genetics | Year: 2014

The type I interferon system is integral to human antiviral immunity. However, inappropriate stimulation or defective negative regulation of this system can lead to inflammatory disease. We sought to determine the molecular basis of genetically uncharacterized cases of the type I interferonopathy Aicardi-Goutières syndrome and of other undefined neurological and immunological phenotypes also demonstrating an upregulated type I interferon response. We found that heterozygous mutations in the cytosolic double-stranded RNA receptor gene IFIH1 (also called MDA5) cause a spectrum of neuroimmunological features consistently associated with an enhanced interferon state. Cellular and biochemical assays indicate that these mutations confer gain of function such that mutant IFIH1 binds RNA more avidly, leading to increased baseline and ligand-induced interferon signaling. Our results demonstrate that aberrant sensing of nucleic acids can cause immune upregulation. © 2014 Nature America, Inc. All rights reserved.

Jette N.,University of Calgary | Beghi E.,Mario Negri Institute for Pharmacological Research | Hesdorffer D.,Columbia University | Moshe S.L.,Yeshiva University | And 4 more authors.
Epilepsia | Year: 2015

The World Health Organization (WHO) International Classification of Diseases (ICD) has been used to classify causes of morbidity and mortality such as epilepsy for more than 50 years. The aims of this critical commentary are to do the following: (1) Introduce the ICD classification, summarize the ICD-9 and ICD-10 codes for epilepsy and seizures, and discuss the challenges of mapping epilepsy codes between these two versions; (2) discuss how the ICD-9 and ICD-10 relate to the revised International League Against Epilepsy (ILAE) terminology and concepts for classification of seizures and epilepsies; (3) discuss how ICD-coded data have been used for epilepsy care and research and briefly examine the potential impact of the international ICD-10 clinical modifications on research; (4) discuss the upcoming ICD-11 codes and the role of the epilepsy community in their development; and (5) discuss how the ICD-11 will conform more closely to the current ILAE terminology and classification of the epilepsies and seizures and its potential impact on clinical care, surveillance, and public health and research. © Wiley Periodicals, Inc. © 2015 International League Against Epilepsy.

Kerr M.,Institute of Psychiatric Medicine and Clinical Neurosciences | Linehan C.,Trinity College Dublin | Linehan C.,University College Dublin | Linehan C.,University of Kent | And 6 more authors.
Epilepsia | Year: 2014

This White Paper builds on the publication of the International League Against Epilepsy (ILAE) and International Bureau for Epilepsy (IBE) report "Listening for a change - medical and social needs of people with intellectual disability who have epilepsy" (Listening for a change the medical and social needs of people with epilepsy and intellectual disability, ILAE, 2013). The Paper presents an overview of the recommendations of the report, which aim to improve the health and social care of this important population of people with epilepsy worldwide. Actions in four domains are indicated: (1) the development of standards and initiatives that would enhance diagnosis, pathways to investigation, and treatment; (2) the development of guidelines for treatment, specifically best practice in the management of antiepileptic drugs including rescue medication; (3) the development of standards for primary care, multidisciplinary teamwork, and clinical consultations, with emphasis on the need to enhance communication and improve access to information; and (4) the enhancement of links among different stakeholders including medical services, educational establishments, employment services, organizations providing opportunities for social engagement, and family members. The breadth of needs of this population is a challenge to the epilepsy world, spanning all the professional groupings, care providers, and the research modalities in epilepsy. © Wiley Periodicals, Inc. © 2014 International League Against Epilepsy.

Korff C.M.,University of Geneva | Brunklaus A.,Paediatric Neurosciences Research Group | Zuberi S.M.,Paediatric Neurosciences Research Group | Zuberi S.M.,University of Glasgow
Epilepsia | Year: 2015

The concept of epileptic encephalopathy is important in clinical practice, but its relevance to an individual must be assessed in the appropriate context. Except in rare situations, epileptic activity is a surrogate for an underlying etiology, and stopping the activity has a limited impact on developmental outcome. Labeling a group of epilepsies as "the epileptic encephalopathies," risks minimizing the impact of epileptic activity on cognition and behavior more widely in epilepsy. Similarly, describing the encephalopathy associated with many infantile onset epilepsies as "epileptic" may be misleading. Finally, concentrating on the epileptic activity alone and not considering the wider consequences of the underlying etiology on cognitive and behavioral development, may focus research efforts and the search for improved therapies on too narrow a target. Therefore, epileptic encephalopathies should not be considered as a specific group of epilepsies but, rather, the concept of epileptic encephalopathy should be applicable to all types of epilepsies and epilepsy syndromes, whenever it is relevant in the clinical course of a particular individual, at any age. © 2015 International League Against Epilepsy.

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