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16 results on '"Champion, M.P."'

2. MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

Author

Ng, Y.S., Lax, N.Z., Maddison, P., Alston, C.L., Blakely, E.L., Hepplewhite, P.D., Riordan, G., Meldau, S., Chinnery, P.F., Pierre, G., Chronopoulou, E., Du, A., Hughes, I., Morris, A.A., Kamakari, S., Chrousos, G., Rodenburg, R.J.T., Saris, C.G.J., Feeney, C., Hardy, S.A., Sakakibara, T., Sudo, A., Okazaki, Y., Murayama, K., Mundy, H., Hanna, M.G., Ohtake, A., Schaefer, A.M., Champion, M.P., Turnbull, D.M., Taylor, R.W., Pitceathly, R.D.S., McFarland, R., Gorman, G.S., Ng, Y.S., Lax, N.Z., Maddison, P., Alston, C.L., Blakely, E.L., Hepplewhite, P.D., Riordan, G., Meldau, S., Chinnery, P.F., Pierre, G., Chronopoulou, E., Du, A., Hughes, I., Morris, A.A., Kamakari, S., Chrousos, G., Rodenburg, R.J.T., Saris, C.G.J., Feeney, C., Hardy, S.A., Sakakibara, T., Sudo, A., Okazaki, Y., Murayama, K., Mundy, H., Hanna, M.G., Ohtake, A., Schaefer, A.M., Champion, M.P., Turnbull, D.M., Taylor, R.W., Pitceathly, R.D.S., McFarland, R., and Gorman, G.S.

Abstract

Contains fulltext : 191175.pdf (publisher's version ) (Open Access), Mutations in the m.13094T>C MT-ND5 gene have been previously described in three cases of Leigh Syndrome (LS). In this retrospective, international cohort study we identified 20 clinically affected individuals (13 families) and four asymptomatic carriers. Ten patients were deceased at the time of analysis (median age of death was 10years (range: 5.4months-37years, IQR=17.9years). Nine patients manifested with LS, one with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS), and one with Leber hereditary optic neuropathy. The remaining nine patients presented with either overlapping syndromes or isolated neurological symptoms. Mitochondrial respiratory chain activity analysis was normal in five out of ten muscle biopsies. We confirmed maternal inheritance in six families, and demonstrated marked variability in tissue segregation, and phenotypic expression at relatively low blood mutant loads. Neuropathological studies of two patients manifesting with LS/MELAS showed prominent capillary proliferation, microvacuolation and severe neuronal cell loss in the brainstem and cerebellum, with conspicuous absence of basal ganglia involvement. These findings suggest that whole mtDNA genome sequencing should be considered in patients with suspected mitochondrial disease presenting with complex neurological manifestations, which would identify over 300 known pathogenic variants including the m.13094T>C.

Published
2018

3. The genotypic and phenotypic spectrum of MTO1 deficiency

Author

O'Byrne, J.J., Tarailo-Graovac, M., Ghani, Aisha, Champion, M.P., Deshpande, Charu, Dursun, Ali, Kluijtmans, L.A.J., Smeitink, J., Wevers, R.A., Engelke, U.F.H., Rodenburg, R.J.T., Salvarinova, R., Karnebeek, C.D. van, O'Byrne, J.J., Tarailo-Graovac, M., Ghani, Aisha, Champion, M.P., Deshpande, Charu, Dursun, Ali, Kluijtmans, L.A.J., Smeitink, J., Wevers, R.A., Engelke, U.F.H., Rodenburg, R.J.T., Salvarinova, R., and Karnebeek, C.D. van

Abstract

Contains fulltext : 184066.pdf (publisher's version ) (Open Access)

Published
2018

4. Fat oxidation defect presenting with overwhelming ketonuria. (Case Report)

Author

Wraige, E., Champion, M.P., Turner, C., and Dalton, R.N.

Subjects
Children -- Diseases, Ketones -- Physiological aspects -- Research, Fatty acids -- Physiological aspects -- Research, Hypoglycemia in children -- Diagnosis -- Physiological aspects -- Research, Hypoglycemia -- Diagnosis -- Physiological aspects -- Research, Family and marriage, Health, Diagnosis, Physiological aspects, Research
Abstract

Ketonuria accompanying hypoglycaemia is conventionally thought to exclude fat oxidation defects. We describe a 2 year old girl with hypoglycaemic encephalopathy in whom a diagnosis of very long chain acyl [...]

Published
2002

5. Duodenal perforation: a diagnostic pitfall in non-accidental injury. (Short Report)

Author

Champion, M.P., Richards, C.A., Boddy, S.A., and Ward, H.C.

Subjects
Intestine, Small -- Injuries -- Health aspects, Blunt trauma -- Health aspects, Abused children -- Health aspects -- Injuries, Family and marriage, Health, Injuries, Health aspects
Abstract

Duodenal perforation is a rare, life threatening injury associated with non-accidental blunt abdominal trauma. Diagnostic delay is common, as the true history is concealed and signs may be minimal. Double [...]

Published
2002

6. Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction?

Author

Wortmann, S.B., Champion, M.P., Heuvel, L.P. van den, Barth, H., Trutnau, B., Craig, K., Lammens, M.M., Schreuder, M.F., Taylor, R.W., Smeitink, J.A.M., Wevers, R.A., Rodenburg, R.J.T., Morava, E., Wortmann, S.B., Champion, M.P., Heuvel, L.P. van den, Barth, H., Trutnau, B., Craig, K., Lammens, M.M., Schreuder, M.F., Taylor, R.W., Smeitink, J.A.M., Wevers, R.A., Rodenburg, R.J.T., and Morava, E.

Abstract

Contains fulltext : 108685.pdf (publisher's version ) (Closed access), We present two new patients with the recently described mitochondrial m.3242G > A mutation. Although the mutation is situated next to the well known m.3243A > G mutation, the most common alteration associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome, the clinical presentation is quite different, but characteristic. All three m.3242G > A patients presented in the neonatal period with hypertrophic and dilated cardiomyopathy, generalized muscle hypotonia and lactic acidosis. Two additionally had creatine kinase elevation, renal tubular acidosis/dysfunction and showed a mild clinical course with a favourable psychomotor development. The third patient had more neurological involvement and died in infancy. The mutation occurred de novo in the two patients where maternal investigations were performed. The combination of hypertrophic cardiomyopathy and renal tubular acidosis/renal tubular dysfunction is clinically distinctive and may represent a separate entity.

Published
2012

7. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

Author

Leen, W.G., Klepper, J., Verbeek, M.M., Leferink, M., Hofste, T., Engelen, B.G.M. van, Wevers, R.A., Arthur, T., Bahi-Buisson, N., Ballhausen, D., Bekhof, J., Bogaert, P. van, Carrilho, I., Chabrol, B., Champion, M.P., Coldwell, J., Clayton, P., Donner, E., Evangeliou, A., Ebinger, F., Farrell, K., Forsyth, R.J., Goede, C.G. de, Gross, S., Grunewald, S., Holthausen, H., Jayawant, S., Lachlan, K., Laugel, V., Leppig, K., Lim, M.J., Mancini, G., Marina, A.D., Martorell, L., McMenamin, J., Meuwissen, M.E., Mundy, H., Nilsson, N.O., Panzer, A., Poll-The, B.T., Rauscher, C., Rouselle, C.M., Sandvig, I., Scheffner, T., Sheridan, E., Simpson, N., Sykora, P., Tomlinson, R., Trounce, J., Webb, D., Weschke, B., Scheffer, H., Willemsen, M.A.A.P., Leen, W.G., Klepper, J., Verbeek, M.M., Leferink, M., Hofste, T., Engelen, B.G.M. van, Wevers, R.A., Arthur, T., Bahi-Buisson, N., Ballhausen, D., Bekhof, J., Bogaert, P. van, Carrilho, I., Chabrol, B., Champion, M.P., Coldwell, J., Clayton, P., Donner, E., Evangeliou, A., Ebinger, F., Farrell, K., Forsyth, R.J., Goede, C.G. de, Gross, S., Grunewald, S., Holthausen, H., Jayawant, S., Lachlan, K., Laugel, V., Leppig, K., Lim, M.J., Mancini, G., Marina, A.D., Martorell, L., McMenamin, J., Meuwissen, M.E., Mundy, H., Nilsson, N.O., Panzer, A., Poll-The, B.T., Rauscher, C., Rouselle, C.M., Sandvig, I., Scheffner, T., Sheridan, E., Simpson, N., Sykora, P., Tomlinson, R., Trounce, J., Webb, D., Weschke, B., Scheffer, H., and Willemsen, M.A.A.P.

Abstract

1 maart 2010, Contains fulltext : 88466.pdf (publisher's version ) (Closed access), Glucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in the majority of patients and results in impaired glucose transport into the brain. From 2004-2008, 132 requests for mutational analysis of the SLC2A1 gene were studied by automated Sanger sequencing and multiplex ligation-dependent probe amplification. Mutations in the SLC2A1 gene were detected in 54 patients (41%) and subsequently in three clinically affected family members. In these 57 patients we identified 49 different mutations, including six multiple exon deletions, six known mutations and 37 novel mutations (13 missense, five nonsense, 13 frame shift, four splice site and two translation initiation mutations). Clinical data were retrospectively collected from referring physicians by means of a questionnaire. Three different phenotypes were recognized: (i) the classical phenotype (84%), subdivided into early-onset (<2 years) (65%) and late-onset (18%); (ii) a non-classical phenotype, with mental retardation and movement disorder, without epilepsy (15%); and (iii) one adult case of glucose transporter-1 deficiency syndrome with minimal symptoms. Recognizing glucose transporter-1 deficiency syndrome is important, since a ketogenic diet was effective in most of the patients with epilepsy (86%) and also reduced movement disorders in 48% of the patients with a classical phenotype and 71% of the patients with a non-classical phenotype. The average delay in diagnosing classical glucose transporter-1 deficiency syndrome was 6.6 years (range 1 month-16 years). Cerebrospinal fluid glucose was below 2.5 mmol/l (range 0.9-2.4 mmol/l) in all patients and cerebrospinal fluid : blood glucose ratio was below 0.50 in all but one patient (range 0.19-0.52). Cerebrospinal fluid lactate was low to normal in all patients. Our relatively large series of 57 patients with glucose transporter-1 deficiency syndrome allowed us to identify correlations between genotype, phenotype and biochemical data. T

Published
2010

8. Glucose transporter-1 deficiency syndrome: The expanding clinical and genetic spectrum of a treatable disorder

Author

Leen, W.G. (Wilhelmina), Klepper, J. (Joerg), Verbeek, M.M. (Marcel), Leferink, M. (Maike), Hofste, T. (Tom), Engelen, B.G.M. (Baziel) van, Wevers, R.A. (Ron), Arthur, T. (Todd), Bahi-Buisson, N. (Nadia), Ballhausen, D. (Diana), Bekhof, J. (Jolita), Bogaert, P. (Patrick) van, Carrilho, I. (Inês), Chabrol, B. (Brigitte), Champion, M.P. (Michael), Coldwell, J. (James), Clayton, P. (Peter), Donner, E. (Elizabeth), Evangeliou, A. (Athanasios), Ebinger, F. (Friedrich), Farrell, K. (Kevin), Forsyth, R.J. (Rob), Goede, C.G.E.L. (Christian) de, Gross, S. (Stephanie), Grünewald, S. (Sonja), Holthausen, H. (Hans), Jayawant, S. (Sandeep), Lachlan, K. (Katherine), Laugel, V. (Vincent), Leppig, K. (Kathy), Lim, M.J. (Ming), Mancini, G.M.S. (Grazia), Marina, A.D., Martorell, L. (Loreto), McMenamin, J. (Joe), Meuwissen, M.E.C. (Marije), Mundy, H. (Helen), Nilsson, N.O. (Nils), Panzer, A. (Axel), Poll-The, B.T., Rauscher, C. (Christian), Rouselle, C.M.R. (Christophe), Sandvig, I. (Inger), Scheffner, T. (Thomas), Sheridan, E. (Eamonn), Simpson, N. (Neil), Sykora, P. (Parol), Tomlinson, R. (Richard), Trounce, J. (John), Webb, D.W.M. (David), Weschke, B. (Bernhard), Scheffer, H. (Hans), Willemsen, M.A. (Michél), Leen, W.G. (Wilhelmina), Klepper, J. (Joerg), Verbeek, M.M. (Marcel), Leferink, M. (Maike), Hofste, T. (Tom), Engelen, B.G.M. (Baziel) van, Wevers, R.A. (Ron), Arthur, T. (Todd), Bahi-Buisson, N. (Nadia), Ballhausen, D. (Diana), Bekhof, J. (Jolita), Bogaert, P. (Patrick) van, Carrilho, I. (Inês), Chabrol, B. (Brigitte), Champion, M.P. (Michael), Coldwell, J. (James), Clayton, P. (Peter), Donner, E. (Elizabeth), Evangeliou, A. (Athanasios), Ebinger, F. (Friedrich), Farrell, K. (Kevin), Forsyth, R.J. (Rob), Goede, C.G.E.L. (Christian) de, Gross, S. (Stephanie), Grünewald, S. (Sonja), Holthausen, H. (Hans), Jayawant, S. (Sandeep), Lachlan, K. (Katherine), Laugel, V. (Vincent), Leppig, K. (Kathy), Lim, M.J. (Ming), Mancini, G.M.S. (Grazia), Marina, A.D., Martorell, L. (Loreto), McMenamin, J. (Joe), Meuwissen, M.E.C. (Marije), Mundy, H. (Helen), Nilsson, N.O. (Nils), Panzer, A. (Axel), Poll-The, B.T., Rauscher, C. (Christian), Rouselle, C.M.R. (Christophe), Sandvig, I. (Inger), Scheffner, T. (Thomas), Sheridan, E. (Eamonn), Simpson, N. (Neil), Sykora, P. (Parol), Tomlinson, R. (Richard), Trounce, J. (John), Webb, D.W.M. (David), Weschke, B. (Bernhard), Scheffer, H. (Hans), and Willemsen, M.A. (Michél)

Abstract

Glucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene in the majority of patients and results in impaired glucose transport into the brain. From 2004-2008, 132 requests for mutational analysis of the SLC2A1 gene were studied by automated Sanger sequencing and multiplex ligation-dependent probe amplification. Mutation

Published
2010
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11. Prospective dietary therapy in a patient with molybdenum cofactor deficiency

Author

Kurian, M.A., Randall, T., Barnfield, P., Turner, C., Dalton, R.N., Fairbanks, L., and Champion, M.P.

Subjects
Sulfites -- Health aspects, Infants -- Health aspects, Molybdenum compounds -- Health aspects, Diet therapy -- Health aspects, Family and marriage, Health, Health aspects
Abstract

Molybdenum cofactor deficiency (MoCD) is a rare combined deficiency of three enzymes that share the molybdenum cofactor: sulphite oxidase, xanthine oxidase, and aldehyde oxidase. It presents with refractory seizures in [...]

Published
2004

14. Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis

Author

Wilson, C.J., Champion, M.P., Collins, J.E., Clayton, P.T., and Leonard, J.V.

Abstract

Background Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inborn error of fatty acid metabolism. Undiagnosed, it has a mortality rate of 20-25%. Neonatal screening for the disorder is now possible but it is not known whether this would alter the prognosis. Objective To investigate the outcome of MCAD deficiency after the diagnosis has been established. Method All patients with a proved diagnosis of MCAD deficiency attending one centre in a four year period were reviewed. Results Forty one patients were identified. Follow up was for a median of 6.7 years (range, 9 months to 14 years). Nearly half of the patients were admitted to hospital with symptoms characteristic of MCAD deficiency before the correct diagnosis was made. After diagnosis, two patients were admitted to hospital with severe encephalopathy but there were no additional deaths or appreciable morbidity. There was a high incidence (about one fifth) of previous sibling deaths among the cohort. Conclusions Undiagnosed, MCAD deficiency results in considerable mortality and morbidity. However, current management improves outcome, supporting the view that the disorder should be included in newborn screening programmes.

Published
1999

15. Serum lactate as a predictor of mortality after paediatric cardiac surgery

Author

Hatherill, M., Sajjanhar, T., Tibby, S.M., Champion, M.P., Anderson, D., Marsh, M.J., and Murdoch, I.A.

Abstract

ObjectiveTo assess the value of sequential lactate measurement in predicting postoperative mortality after surgery for complex congenital heart disease in children.DesignProspective observational study.SettingSixteen bedded paediatric intensive care unit (PICU).SubjectsNinety nine children ( 90 survivors, nine non-survivors).MeasurementsSerum lactate and base deficit were measured on admission and every six hours thereafter. Data were analysed by Mann-Whitney and Fisher's exact tests.ResultsThere was considerable overlap in initial lactate values between the survivor and non-survivor groups. Initial lactate was significantly raised in non-survivors (median 8.7, range 1.9-17.6 mmol/l) compared with survivors (median 2.4, range 0.6-13.6 mmol/l) (p = 0.0002). Twenty one patients (21.1%) with initial lactate concentrations greater than 4.5 mmol/l survived to PICU discharge. Using receiver operating characteristic analysis an initial lactate of 6 mmol/l had the optimum predictive value for mortality. Initial postoperative serum lactate >6 mmol/l predicted mortality with sensitivity 78%, specificity 83%, and positive predictive value of only 32%.ConclusionInitial lactate concentrations have poor positive predictive value for mortality. The routine measurement of lactate for this purpose cannot be justified in clinical practice.

Published
1997

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