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  1. Article ; Online: Experience of using electromyography of the genioglossus in the investigation of paediatric dysphagia.

    Vijayakumar, Kayal / Rockett, Juliet / Ryan, Martina / Harris, Rebecca / Pitt, Matthew / Devile, Catherine

    Developmental medicine and child neurology

    2012  Volume 54, Issue 12, Page(s) 1127–1132

    Abstract: Aim: The aim of the study was to assess, retrospectively, the utility of genioglossus electromyography (gEMG) in evaluating children with suspected neurogenic feeding and swallowing difficulties.: Method: Children who were evaluated using gEMG at a ... ...

    Abstract Aim: The aim of the study was to assess, retrospectively, the utility of genioglossus electromyography (gEMG) in evaluating children with suspected neurogenic feeding and swallowing difficulties.
    Method: Children who were evaluated using gEMG at a tertiary paediatric neurology dysphagia service were reviewed. Data were analysed by the presence/absence of neurogenic changes on gEMG and the method of feeding at their most recent follow-up.
    Results: The study group comprised 59 individuals (36 males, 23 females; median age 20 mo; range 1 mo-15 y). The study cohort included individuals with heterogeneous neurological phenotypes (n=40), craniofacial syndrome (n=10), and congenital bulbar palsy (n=9). gEMG identified 35 out of 59 (60%) with neurogenic changes. At follow-up, 24 individuals were on oral feeds and 35 were on alternative methods of feeding (nasogastric /gastrostomy). Eight out of 24 children on oral feeds showed neurogenic changes compared with 27 out of 35 on alternative feeds. χ(2) analysis of feeding method at follow-up and the presence or absence of neurogenic change on EMG was highly significant (p≤0.002). When confounding factors for alternative feeds were accounted for on univariate analysis, the neurogenic changes, severe gastro-oesophageal reflux disease, and respiratory comorbidities were statistically significant in predicting the alternative feeding, whereas growth failure and behavioural difficulties were not significant confounders. Moreover, multiple logistic regression analysis revealed that the neurogenic changes were independently predictive of an alternative method of feeding after adjusting for other confounders with an odds ratio of 29.6 (95% confidence interval 3.97-220; p<0.007).
    Conclusion: gEMG is a valuable complementary tool in the evaluation of children with neurogenic dysphagia as the degree of severity is independently correlated with long-term feeding outcomes.
    MeSH term(s) Adolescent ; Brain Stem/physiopathology ; Child ; Child, Preschool ; Deglutition Disorders/physiopathology ; Electromyography ; Feeding Methods ; Female ; Gastrostomy ; Humans ; Infant ; Logistic Models ; Male ; Muscle, Skeletal/physiopathology ; Retrospective Studies ; Tongue/physiopathology
    Language English
    Publishing date 2012-12
    Publishing country England
    Document type Journal Article
    ZDB-ID 80369-8
    ISSN 1469-8749 ; 0012-1622
    ISSN (online) 1469-8749
    ISSN 0012-1622
    DOI 10.1111/j.1469-8749.2012.04431.x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Understanding the information needs of general practitioners managing a rare genetic disorder (osteogenesis imperfecta).

    Zack, Philip / Devile, Catherine / Clark, Christine / Surtees, Robert

    Community genetics

    2006  Volume 9, Issue 4, Page(s) 260–267

    Abstract: Background: Lack of adequate knowledge is a common problem in medicine, but is a particular problem in a rapidly advancing field like genetics. This study uses the example of a rare genetic disorder (osteogenesis imperfecta) to understand the ... ...

    Abstract Background: Lack of adequate knowledge is a common problem in medicine, but is a particular problem in a rapidly advancing field like genetics. This study uses the example of a rare genetic disorder (osteogenesis imperfecta) to understand the information needs of primary care physicians (GPs).
    Objectives: To determine whether a knowledge gap is recognised, how GPs currently attempt to overcome it, and what features of an information resource are preferred by GPs.
    Methods: GPs of children affected by osteogenesis imperfecta in and around Greater London were interviewed, using both questionnaire-based semi-structured interview and a qualitatively analysed open-ended discussion. Consultations in both primary and tertiary care settings over a 5-year period were compared.
    Results: Problems due to osteogenesis imperfecta were presented to GPs in about one third of consultations with these patients. GPs reported finding such patients difficult to manage due to lack of knowledge. Knowledge from tertiary sources, which was authoritative, accessible and relevant, was preferred, particularly when reasoning was explained. Primary literature and clinical guidelines were not favoured.
    Conclusions: Empirical evidence supports and elaborates theoretical models for provision of clinically useful information. A model for improved information services using authoritative web-based information linked to electronic patient records is suggested.
    MeSH term(s) Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Education, Medical, Continuing ; Female ; Genetic Diseases, Inborn/psychology ; Genetic Diseases, Inborn/therapy ; Genetics, Medical/education ; Health Knowledge, Attitudes, Practice ; Humans ; Information Services/organization & administration ; Interviews as Topic ; Male ; Middle Aged ; Needs Assessment ; Osteogenesis Imperfecta/psychology ; Osteogenesis Imperfecta/therapy ; Physicians, Family/education ; Surveys and Questionnaires
    Language English
    Publishing date 2006
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1437851-6
    ISSN 1422-2833 ; 1422-2795
    ISSN (online) 1422-2833
    ISSN 1422-2795
    DOI 10.1159/000094475
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: What's new in neuro-oncology.

    Devile, C / Packer, R / Walker, D / Kennedy, C / Maria, B

    European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

    2000  Volume 4, Issue 6, Page(s) 255–262

    MeSH term(s) Brain Neoplasms/drug therapy ; Child ; Craniopharyngioma/radiotherapy ; Genetic Therapy ; Glioma/drug therapy ; Humans ; Medical Oncology/trends ; Neurology/trends ; Pituitary Neoplasms/radiotherapy
    Language English
    Publishing date 2000
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 1397146-3
    ISSN 1090-3798
    ISSN 1090-3798
    DOI 10.1053/ejpn.2000.0377
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Fracture and non-fracture pain in children with osteogenesis imperfecta.

    Zack, Philip / Franck, Linda / Devile, Catherine / Clark, Christine

    Acta paediatrica (Oslo, Norway : 1992)

    2005  Volume 94, Issue 9, Page(s) 1238–1242

    Abstract: Aim: To describe and compare the characteristics of acute fracture and chronic non-fracture pain in children with osteogenesis imperfecta (OI).: Methods: A questionnaire about fracture-related pain and prospective 7-d diary about non-fracture-related ...

    Abstract Aim: To describe and compare the characteristics of acute fracture and chronic non-fracture pain in children with osteogenesis imperfecta (OI).
    Methods: A questionnaire about fracture-related pain and prospective 7-d diary about non-fracture-related pain was completed by a random sample of 35 children aged 5-18 from a UK national OI service. Main outcome measures included pain intensity, location, frequency, quality, coping strategies and analgesia use.
    Results: Most children reported moderate to severe pain associated with fractures and less intense non-fracture pain (p<0.001). Pain intensity was significantly higher in the children who used analgesics (p<0.001). The quality of fracture and non-fracture pain differed only for affective words, which were less frequently used to describe non-fracture pain (p=0.002). More activities of daily living (ADLs) were affected by fracture pain than by non-fracture pain (p<0.001). Children reported more frequent use of approach coping strategies with fracture pain and more frequent use of distraction for non-fracture pain (p<0.01). There were no differences in non-fracture pain intensity, duration, quality, effect on ADLs or coping between children who did or did not take bisphosphonates.
    Conclusions: Pain is a common occurrence for children with OI and is both acute and chronic in nature, interfering with children's daily living activities. OI pain may not be optimally treated because many children experienced moderate to severe pain despite use of analgesics and/or coping strategies.
    MeSH term(s) Adolescent ; Child ; Child, Preschool ; Female ; Fractures, Bone/complications ; Humans ; Male ; Osteogenesis Imperfecta/complications ; Pain/classification ; Pain/etiology ; Pain/physiopathology ; Pilot Projects ; Prospective Studies ; Surveys and Questionnaires
    Language English
    Publishing date 2005-09-20
    Publishing country Norway
    Document type Comparative Study ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 203487-6
    ISSN 1651-2227 ; 0803-5253 ; 0365-1436
    ISSN (online) 1651-2227
    ISSN 0803-5253 ; 0365-1436
    DOI 10.1111/j.1651-2227.2005.tb02082.x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Magnetic resonance imaging assessment of infantile myofibromatosis.

    Counsell, S J / Devile, C / Mercuri, E / Allsop, J M / Birch, R / Muntoni, F

    Clinical radiology

    2002  Volume 57, Issue 1, Page(s) 67–70

    MeSH term(s) Female ; Humans ; Infant ; Magnetic Resonance Imaging ; Muscle Neoplasms/diagnosis ; Myofibromatosis/diagnosis ; Soft Tissue Neoplasms/diagnosis
    Language English
    Publishing date 2002-01
    Publishing country England
    Document type Case Reports ; Journal Article
    ZDB-ID 391227-9
    ISSN 1365-229X ; 0009-9260
    ISSN (online) 1365-229X
    ISSN 0009-9260
    DOI 10.1053/crad.2001.0723
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.

    Polke, J M / Laurá, M / Pareyson, D / Taroni, F / Milani, M / Bergamin, G / Gibbons, V S / Houlden, H / Chamley, S C / Blake, J / Devile, C / Sandford, R / Sweeney, M G / Davis, M B / Reilly, M M

    Neurology

    2011  Volume 77, Issue 2, Page(s) 168–173

    Abstract: Objective: Mutations in mitofusin 2 (MFN2) are the most common cause of axonal Charcot-Marie-Tooth disease (CMT2). Over 50 mutations have been reported, mainly causing autosomal dominant disease, though families with homozygous or compound heterozygous ... ...

    Abstract Objective: Mutations in mitofusin 2 (MFN2) are the most common cause of axonal Charcot-Marie-Tooth disease (CMT2). Over 50 mutations have been reported, mainly causing autosomal dominant disease, though families with homozygous or compound heterozygous mutations have been described. We present 3 families with early-onset CMT2 associated with compound heterozygous MFN2 mutations. Transcriptional analysis was performed to investigate the effects of the mutations.
    Methods: Patients were examined clinically and electrophysiologically; parents were also examined where available. Genetic investigations included MFN2 DNA sequencing and dosage analysis by multiplex ligation-dependent probe amplification. MFN2 mRNA transcripts from blood lymphocytes were analyzed in 2 families.
    Results: Compound heterozygosity for MFN2 mutations was associated with early-onset CMT2 of varying severity between pedigrees. Parents, where examined, were unaffected and were heterozygous for the expected mutations. Four novel mutations were detected (one missense, one nonsense, an intragenic deletion of exons 7 + 8, and a 3-base pair deletion), as well as 2 previously reported missense mutations. Transcriptional analysis demonstrated aberrant splicing of the exonic deletion and indicated nonsense-mediated decay of mutant alleles with premature truncating mutations.
    Conclusions: Our findings confirm that MFN2 mutations can cause early-onset CMT2 with apparent recessive inheritance. Novel genetic findings include an intragenic MFN2 deletion and nonsense-mediated decay. Carrier parents were asymptomatic, suggesting that MFN2 null alleles can be nonpathogenic unless coinherited with another mutation.
    MeSH term(s) Base Sequence ; Charcot-Marie-Tooth Disease/genetics ; Family Health ; Female ; GTP Phosphohydrolases ; Genes, Recessive/genetics ; Humans ; Male ; Membrane Proteins/genetics ; Mitochondrial Proteins/genetics ; Mutation/genetics ; Neural Conduction/genetics ; RNA, Messenger/metabolism
    Chemical Substances Membrane Proteins ; Mitochondrial Proteins ; RNA, Messenger ; GTP Phosphohydrolases (EC 3.6.1.-) ; MFN2 protein, human (EC 3.6.1.-)
    Language English
    Publishing date 2011-06-29
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 207147-2
    ISSN 1526-632X ; 0028-3878
    ISSN (online) 1526-632X
    ISSN 0028-3878
    DOI 10.1212/WNL.0b013e3182242d4d
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Renal candidiasis in the preterm infant.

    Devile, C J / Ogilvie, D

    Archives of disease in childhood

    1992  Volume 67, Issue 10 Spec No, Page(s) 1244

    MeSH term(s) Candidiasis/complications ; Humans ; Infant, Newborn ; Infant, Premature ; Kidney/microbiology ; Kidney Diseases/etiology ; Male
    Language English
    Publishing date 1992-10
    Publishing country England
    Document type Case Reports ; Comment ; Letter
    ZDB-ID 524-1
    ISSN 1468-2044 ; 0003-9888 ; 1359-2998
    ISSN (online) 1468-2044
    ISSN 0003-9888 ; 1359-2998
    DOI 10.1136/adc.67.10_spec_no.1244-a
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children.

    Klein, Andrea / Pitt, Matthew C / McHugh, John C / Niks, Erik H / Sewry, Caroline A / Phadke, Rahul / Feng, Lucy / Manzur, Adnan Y / Tirupathi, Sandya / Devile, Catherine / Jayawant, Sandeep / Finlayson, Sarah / Palace, Jacqueline / Muntoni, Francesco / Beeson, David / Robb, Stephanie A

    Neuromuscular disorders : NMD

    2013  Volume 23, Issue 11, Page(s) 883–891

    Abstract: Mutations in DOK7 are a common cause of congenital myasthenia. Treatment with ephedrine or salbutamol is effective, but diagnosis is often delayed. The aim of our study was to find early clues to the diagnosis of DOK7 congenital myasthenic syndrome. We ... ...

    Abstract Mutations in DOK7 are a common cause of congenital myasthenia. Treatment with ephedrine or salbutamol is effective, but diagnosis is often delayed. The aim of our study was to find early clues to the diagnosis of DOK7 congenital myasthenic syndrome. We included 23 children of 20 families. Onset of symptoms ranged from birth to age 3 years. 13 presented at birth with feeding difficulties, 11 with stridor (documented vocal cord palsy in 7), 3/11 with hypotonia/poor head control. Weakness was more pronounced proximally in all, axial in early presenting infants. Muscle biopsy showed non-specific features in 15/16, type 1 fibre predominance in 14/16, areas devoid of oxidative enzyme activity in 7/16. Muscle imaging was normal in 8/10, 2/10 showed mild non-specific changes. A diagnostic clue suggesting CMS rather than myopathy was the discrepancy between muscle imaging or histology findings compared with the degree of weakness. Repetitive nerve stimulation and stimulation single fibre electromyography were pathological in 9/17 and 13/14, respectively. In conclusion, stridor and feeding difficulties at birth or progressive weakness despite normal milestones in infancy point to the diagnosis and should lead to neurophysiological and genetic investigation. Fatigability can be absent or easily missed in the first years of life.
    MeSH term(s) Child ; Humans ; Muscle Proteins/genetics ; Myasthenic Syndromes, Congenital/diagnosis ; Myasthenic Syndromes, Congenital/genetics
    Chemical Substances DOK7 protein, human ; Muscle Proteins
    Language English
    Publishing date 2013-07-03
    Publishing country England
    Document type Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1077681-3
    ISSN 1873-2364 ; 0960-8966
    ISSN (online) 1873-2364
    ISSN 0960-8966
    DOI 10.1016/j.nmd.2013.06.002
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Paediatric autoimmune encephalopathies: clinical features, laboratory investigations and outcomes in patients with or without antibodies to known central nervous system autoantigens.

    Hacohen, Yael / Wright, Sukhvir / Waters, Patrick / Agrawal, Shakti / Carr, Lucinda / Cross, Helen / De Sousa, Carlos / Devile, Catherine / Fallon, Penny / Gupta, Rajat / Hedderly, Tammy / Hughes, Elaine / Kerr, Tim / Lascelles, Karine / Lin, Jean-Pierre / Philip, Sunny / Pohl, Keith / Prabahkar, Prab / Smith, Martin /
    Williams, Ruth / Clarke, Antonia / Hemingway, Cheryl / Wassmer, Evangeline / Vincent, Angela / Lim, Ming J

    Journal of neurology, neurosurgery, and psychiatry

    2012  Volume 84, Issue 7, Page(s) 748–755

    Abstract: Objective: To report the clinical and investigative features of children with a clinical diagnosis of probable autoimmune encephalopathy, both with and without antibodies to central nervous system antigens.: Method: Patients with encephalopathy plus ... ...

    Abstract Objective: To report the clinical and investigative features of children with a clinical diagnosis of probable autoimmune encephalopathy, both with and without antibodies to central nervous system antigens.
    Method: Patients with encephalopathy plus one or more of neuropsychiatric symptoms, seizures, movement disorder or cognitive dysfunction, were identified from 111 paediatric serum samples referred from five tertiary paediatric neurology centres to Oxford for antibody testing in 2007-2010. A blinded clinical review panel identified 48 patients with a diagnosis of probable autoimmune encephalitis whose features are described. All samples were tested/retested for antibodies to N-methyl-D-aspartate receptor (NMDAR), VGKC-complex, LGI1, CASPR2 and contactin-2, GlyR, D1R, D2R, AMPAR, GABA(B)R and glutamic acid decarboxylase.
    Results: Seizures (83%), behavioural change (63%), confusion (50%), movement disorder (38%) and hallucinations (25%) were common. 52% required intensive care support for seizure control or profound encephalopathy. An acute infective organism (15%) or abnormal cerebrospinal fluid (32%), EEG (70%) or MRI (37%) abnormalities were found. One 14-year-old girl had an ovarian teratoma. Serum antibodies were detected in 21/48 (44%) patients: NMDAR 13/48 (27%), VGKC-complex 7/48(15%) and GlyR 1/48(2%). Antibody negative patients shared similar clinical features to those who had specific antibodies detected. 18/34 patients (52%) who received immunotherapy made a complete recovery compared to 4/14 (28%) who were not treated; reductions in modified Rankin Scale for children scores were more common following immunotherapies. Antibody status did not appear to influence the treatment effect.
    Conclusions: Our study outlines the common clinical and paraclinical features of children and adolescents with probable autoimmune encephalopathies. These patients, irrespective of positivity for the known antibody targets, appeared to benefit from immunotherapies and further antibody targets may be defined in the future.
    MeSH term(s) Adolescent ; Asians ; Autoantigens/analysis ; Autoimmune Diseases/diagnosis ; Autoimmune Diseases/psychology ; Autoimmune Diseases/therapy ; Blacks ; Brain Diseases/diagnosis ; Brain Diseases/immunology ; Brain Diseases/therapy ; Central Nervous System/immunology ; Child ; Child, Preschool ; Cohort Studies ; Data Interpretation, Statistical ; Electrophysiology ; Female ; Humans ; Immunotherapy ; Infant ; Male ; Mental Disorders/etiology ; Mental Disorders/psychology ; Potassium Channels, Voltage-Gated/immunology ; Receptors, N-Methyl-D-Aspartate/immunology ; Treatment Outcome ; Whites
    Chemical Substances Autoantigens ; Potassium Channels, Voltage-Gated ; Receptors, N-Methyl-D-Aspartate
    Language English
    Publishing date 2012-11-22
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Extramural
    ZDB-ID 3087-9
    ISSN 1468-330X ; 0022-3050
    ISSN (online) 1468-330X
    ISSN 0022-3050
    DOI 10.1136/jnnp-2012-303807
    Database MEDical Literature Analysis and Retrieval System OnLINE

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