20 results on '"Wermenbol, V"'
Search Results
2. [A technological platform for cerebral palsy - the ICT4Rehab project]
- Author
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Van Sint Jan, Serge, Wermenbol, V, Van Bogaert, P, Desloovere, K, Degelaen, Marc, Dan, B, Salvia, P, Ortibus, E, Bonnechère, B, Le Borgne, YA, Bontempi, G, Vansummeren, S, Sholukha, V, Moiseev, F, Roose, M, Physiotherapy, Human Physiology and Anatomy, and Rehabilitation Research
- Subjects
digestive system diseases - Abstract
The musculoskeletal system (MSS) is essential to allow us performing every-day tasks, being able to have a professional life or developing social interactions with our entourage. MSS pathologies have a significant impact on our daily life. It is therefore not surprising to find MSS-related health problems at the top of global statistics on professional absenteeism or societal health costs. The MSS is also involved in central nervous conditions, such as cerebral palsy (CP). Such conditions show complex etiology that complicates the interpretation of the observable clinical signs and the establishment of a wide consensus on the best practices to adopt for clinical monitoring and patient follow-up. These elements justify the organization of fundamental and applied research projects aiming to develop new methods to help clinicians to cope with the complexity of some MSS disorders. The ICT4Rehab project (www.ict4rehab.org) developed an integrated platform providing tools that enable easier management and visualization of clinical information related to the MSS of CP patients. This platform is opened to every interested clinical centre.
- Published
- 2013
3. Decreased spontaneous arousability in preterm newborns with impaired neurological outcome
- Author
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Thiriez, G., Tournoud, Maud, Wermenbol, V., Vermeylen, D., Ecochard, René, Iwaz, J., Sheng Lin, J., Franco, P., Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), and Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)
- Subjects
[SDV]Life Sciences [q-bio] - Published
- 2012
4. PP1.5 – 1899 Management and interpretation of medical data related to cerebral palsy: the ICT4 Rehab project
- Author
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Bonnechère, B, primary, Wermenbol, V, additional, Dan, B, additional, Salvia, P, additional, Le Borgne, Y, additional, Bontempi, G, additional, Vansummeren, S, additional, Sholukha, V, additional, Moiseev, F, additional, Jansen, B, additional, Rooze, M, additional, and Van Sint Jan, S, additional
- Published
- 2013
- Full Text
- View/download PDF
5. Outcome of meningitis caused by Streptococcus pneumoniae and Haemophilus influenzae type b in children in The Gambia.
- Author
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Goetghebuer, T, West, T E, Wermenbol, V, Cadbury, A L, Milligan, P, Lloyd-Evans, N, Adegbola, R A, Mulholland, E K, Greenwood, B M, and Weber, M W
- Abstract
In developing countries, endemic childhood meningitis is a severe disease caused most commonly by Streptococcus pneumoniae or Haemophilus influenzae type b (Hib). Although many studies have shown that fatality rates associated with meningitis caused by these organisms are high in developing countries, little is known about the long-term outcome of survivors. The purpose of this study was to assess the importance of disabilities following pneumococcal and Hib meningitis in The Gambia. 257 children aged 0-12 years hospitalized between 1990 and 1995 with culture-proven S. pneumoniae (n = 134) or Hib (n = 123) meningitis were included retrospectively in the study. 48% of children with pneumococcal meningitis and 27% of children with Hib meningitis died whilst in hospital. Of the 160 survivors, 89 (55%) were followed up between September 1996 and October 1997. Of the children with pneumococcal meningitis that were traced, 58% had clinical sequelae; half of them had major disabilities preventing normal adaptation to social life. 38% of survivors of Hib meningitis had clinical sequelae, a quarter of whom had major disabilities. Major handicaps found were hearing loss, mental retardation, motor abnormalities and seizures. These data show that despite treatment with effective antibiotics, pneumococcal and Hib meningitis kill many Gambian children and leave many survivors with severe sequelae. Hib vaccination is now given routinely in The Gambia; an effective pneumococcal vaccine is needed. [ABSTRACT FROM AUTHOR]
- Published
- 2000
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- View/download PDF
6. Clinical examination of children with cerebral palsy: Is there a consensus between clinicians? | Examen clinique de l'enfant infirme moteur cérébral: Existe-t-il un consensus entre les praticiens?
- Author
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Bonnechère, B., Wermenbol, V., Bernard Dan, Degelaen, M., Salvia, P., Rooze, M., and Sint Jan, S.
7. Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
- Author
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Ram L. Kumar, Marjo S. van der Knaap, Sanjeev S. Bhaskar, Pierre-Yves Jeannet, John B.P. Stephenson, Gillian I. Rice, Joel Victor Fluss, James O'Sullivan, Raphael Schiffmann, Johannes A. Buckard, Andrea Whitney, Riyana Babul-Hirji, Catheline Vilain, Beverley Anderson, Yanick J. Crow, Emma M. Jenkinson, Gunnar Houge, Ewan Forrest, Vanessa Wermenbol, Peter Baxter, Sarah B. Daly, Marcin Szynkiewicz, Joanne Muter, Rosalind J. Jefferson, Wui K. Chong, Elisabeth Oppliger Leibundgut, Gabriela M. Baerlocher, Stefan Meyer, Jonathan E. Dickerson, Ramesh Mehta, Emma Wakeling, Sarah Risen, José Pedro Vieira, Sakkubai Naidu, Andrea Berger, Calvin Soh, John H. Livingston, David Chitayat, Staffan Lundberg, Simon C. Lovell, Luís Catela Nunes, Helen Stewart, Graeme C.M. Black, John Tolmie, Janice E Brunstom-Hernandez, Jill E. Urquhart, Josephine Mayer, Ghada M H Abdel-Salem, Paul R. Kasher, Charles Marques Lourenço, Simon Hammans, Emilio Franzoni, Caterina Garone, Katrin Õunap, Duccio Maria Cordelli, Prab Prabhakar, Ken K. Nischal, Luisa Bonafé, Michel Philippart, Sébastien Jacquemont, Patrick Ferreira, Imelda Hughes, Jon Stone, Georg Kutschke, Fluss, Joel Victor, Jeannet, Pierre-Yves, Pediatric surgery, NCA - Childhood White Matter Diseases, Anderson BH, Kasher PR, Mayer J, Szynkiewicz M, Jenkinson EM, Bhaskar SS, Urquhart JE, Daly SB, Dickerson JE, O'Sullivan J, Leibundgut EO, Muter J, Abdel-Salem GM, Babul-Hirji R, Baxter P, Berger A, Bonafé L, Brunstom-Hernandez JE, Buckard JA, Chitayat D, Chong WK, Cordelli DM, Ferreira P, Fluss J, Forrest EH, Franzoni E, Garone C, Hammans SR, Houge G, Hughes I, Jacquemont S, Jeannet PY, Jefferson RJ, Kumar R, Kutschke G, Lundberg S, Lourenço CM, Mehta R, Naidu S, Nischal KK, Nunes L, Ounap K, Philippart M, Prabhakar P, Risen SR, Schiffmann R, Soh C, Stephenson JB, Stewart H, Stone J, Tolmie JL, van der Knaap MS, Vieira JP, Vilain CN, Wakeling EL, Wermenbol V, Whitney A, Lovell SC, Meyer S, Livingston JH, Baerlocher GM, Black GC, Rice GI, Crow YJ, Other departments, and Neuroscience Campus Amsterdam - Childhood White Matter Diseases
- Subjects
DNA polymerase ,Molecular Sequence Data ,Telomere-Binding Proteins ,Histones/metabolism ,HDE GEN ,HDE NEU PED ,CST complex ,CEREBRORETINAL MICROANGIOPATHY, FAMILIAL SYNDROME, CALCIFICATIONS, CYSTS, PROTEIN, DNA, LEUKOENCEPHALOPATHY, EVOLUTION, DEFECTS ,Histones ,chemistry.chemical_compound ,Abnormalities, Multiple/genetics ,Genetics ,medicine ,Abnormalities, Multiple ,Genetic Predisposition to Disease ,Telomere-binding protein ,Telomere/pathology ,ddc:618 ,biology ,Base Sequence ,Genetic Predisposition to Disease/genetics ,DNA replication ,Sequence Analysis, DNA ,Telomere ,medicine.disease ,Flow Cytometry ,Cell biology ,Retinal Telangiectasis/genetics/pathology ,chemistry ,Sequence Analysis, DNA/methods ,biology.protein ,Retinal Telangiectasis ,Primase ,Telomere-Binding Proteins/genetics ,DNA ,Dyskeratosis congenita - Abstract
Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex. Consistent with the observation of shortened telomeres in an Arabidopsis CTC1 mutant and the phenotypic overlap of Coats plus with the telomeric maintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres in three individuals with Coats plus and an increase in spontaneous γ 3H2AX-positive cells in cell lines derived from two affected individuals. CTC1 is also a subunit of the I ±-accessory factor (AAF) complex, stimulating the activity of DNA polymerase-α, the only enzyme known to initiate DNA replication in eukaryotic cells. Thus, CTC1 may have a function in DNA metabolism that is necessary for but not specific to telomeric integrity. © 2012 Nature America, Inc. All rights reserved.
- Published
- 2012
8. Prevalence of cerebral palsy and factors associated with cerebral palsy subtype: A population-based study in Belgium.
- Author
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Dhondt E, Dan B, Plasschaert F, Degelaen M, Dielman C, Dispa D, Ebetiuc I, Hasaerts D, Kenis S, Lombardo C, Pelc K, Wermenbol V, and Ortibus E
- Abstract
Aim: To report on the prevalence, neuroimaging patterns, and function of children with cerebral palsy (CP) in Belgium for birth years 2007-2012, and identify distinctive risk indicators and differences in outcome between CP subtypes., Methods: Antenatal and perinatal/neonatal factors, motor and speech function, associated impairments, and neuroimaging patterns were extracted from the Belgian Cerebral Palsy Register. Prevalence was estimated per 1000 (overall, ante/perinatal, spastic, dyskinetic CP) or 10,000 (post-neonatal, ataxic CP) live births. Multinomial logistic regression analyses were performed to ascertain the effects of antenatal/perinatal/neonatal factors and neuroimaging patterns on the likelihood of dyskinetic or ataxic CP relative to spastic CP, and test the likelihood of the occurrence of impaired motor and speech function and associated impairments in dyskinetic or ataxic CP relative to spastic CP., Results: In total, 1127 children with CP were identified in Belgium. The birth prevalence of overall CP was 1.48 per 1000 live births. The likelihood of dyskinetic CP increases if the child was born to a mother aged ≥35 years, mechanically ventilated, and had predominant grey matter injury, while an increased likelihood of ataxic CP is associated with ≥2 previous deliveries. Children with dyskinetic and ataxic CP are more likely to function with impairments in motor, speech, and intellectual abilities., Conclusion: Distinctive risk indicators and differences in outcome between CP subtypes were identified. These factors can be incorporated into clinical practice to facilitate early, accurate, and reliable classification of CP subtype, and may lead to individually tailored neonatal care and other (early) intervention options., Competing Interests: Declaration of competing interest All authors declare no conflicts of interest on the submitted paper., (© 2023 Published by Elsevier Ltd on behalf of European Paediatric Neurology Society.)
- Published
- 2023
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9. Corpus callosum thinning in autosomal dominant hereditary spastic paraplegia associated with a novel TUBβ4A mutation.
- Author
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Lamartine S Monteiro M, Vandernoot I, Desmyter L, Wermenbol V, Naeije G, and Remiche G
- Subjects
- Adolescent, Child, Child, Preschool, Corpus Callosum pathology, Female, Genetic Association Studies, Humans, Magnetic Resonance Imaging, Male, Mutation genetics, Siblings, Spastic Paraplegia, Hereditary diagnostic imaging, Spastic Paraplegia, Hereditary physiopathology, Corpus Callosum diagnostic imaging, Genetic Predisposition to Disease, Spastic Paraplegia, Hereditary genetics, Tubulin genetics
- Abstract
Siblings with hereditary spastic paraplegia and corpus callosum thinning associated with a novel TUBβ4A mutation., (© 2020 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
- Published
- 2020
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10. p.Gly743Val Mutation in COL4A1 Is Responsible for Familial Porencephaly and Severe Hypermetropia.
- Author
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Scoppettuolo P, Ligot N, Wermenbol V, Van Bogaert P, and Naeije G
- Abstract
COL4A1 is an essential component for basal membrane stability. Exon mutations of the COL4A1 genes are responsible for a broad spectrum of cerebral, ocular, and systemic manifestations. We describe here the phenotype of a likely pathogenic gene variant, p.Gly743Val, which is responsible for a missense mutation in the COL4A1 gene exon 30 in a three generation family with severe hypermetropia and highly penetrant porencephaly in the absence of systemic manifestations. This report highlights both the broad spectrum of COL4A1 mutations and the yield of testing the COL4A1 gene in familial ophthalmological and brain disorders., (Copyright © 2020 Scoppettuolo, Ligot, Wermenbol, Van Bogaert and Naeije.)
- Published
- 2020
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11. [Systematic follow-up of infants born preterm].
- Author
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Aeby A, Wermenbol V, Ciardelli R, Mûller MF, Wetzburger C, and Van Bogaert P
- Subjects
- Brain growth & development, Central Nervous System Diseases congenital, Central Nervous System Diseases etiology, Humans, Infant, Newborn, Premature Birth physiopathology, Premature Birth psychology, Infant, Premature growth & development, Infant, Premature psychology, Monitoring, Physiologic methods
- Abstract
Advances in pediatric medicine have enabled a decrease in perinatal mortality, especially among infants born preterm (< 32 weeks gestational age) or low birth weight (< 1.500 g). However, this population is exposed to a greater risk of neurological sequelae. This is why the creation of specific follow-up program are mandatory to screen at-risk children to offer them a support able to minimize the impact of prematurity on their future neurological development.
- Published
- 2015
12. Altered autonomic control in preterm newborns with impaired neurological outcomes.
- Author
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Thiriez G, Mougey C, Vermeylen D, Wermenbol V, Lanquart JP, Lin JS, and Franco P
- Subjects
- Adult, Child, Preschool, Female, Follow-Up Studies, Humans, Infant, Infant, Newborn, Male, Nervous System Diseases epidemiology, Nervous System Diseases physiopathology, Polysomnography methods, Young Adult, Autonomic Nervous System physiopathology, Heart Rate physiology, Infant, Premature physiology, Nervous System Diseases diagnosis, Sleep physiology
- Abstract
Purpose: Very preterm newborns are at high risk of neurological injury. The objective of this work was to study the impact of neurological aggression on the autonomic nervous system., Methods: We studied polysomnography recordings, at term corrected gestational age, for 38 preterm infants born at less than 28 weeks or weighing less than 1 kg. These infants were seen by a neuropediatrician, average age at follow up was 54.4 months. We created two groups: one with children who did not have any neurological disorder, including cerebral palsy (CP), language or mental retardation, visual or hearing disability, and attention disorder; the second group contained children with at least one of these impairments. From the polysomnography recordings, using coarse-graining spectral analysis, we compared heart rate variability indices between preterm infants with normal and abnormal neurological outcomes., Results: Twenty infants had an impaired neurological outcome. Regarding the clinical characteristics, there were more babies born from smoking mothers (p = 0.025), with early-onset neonatal sepsis (p = 0.04), and abnormal results on cerebral magnetic resonance imaging (p = 0.014) in the group with impaired neurological outcomes. Spectral parameters were significantly different between active and quiet sleep. Total powers, harmonic and non-harmonic powers, high frequency and low frequency powers were higher in active sleep compared with those in quiet sleep. Preterm babies with impaired neurological development, in particular those with CP, had lower total power and non-harmonic power especially in active sleep than those with normal neurological outcome., Conclusion: These findings suggest that, in very preterm infants, perinatal neurological injuries could be associated with abnormal maturation of the autonomic nervous system.
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- 2015
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13. A familial heterozygous null mutation of MET in autism spectrum disorder.
- Author
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Lambert N, Wermenbol V, Pichon B, Acosta S, van den Ameele J, Perazzolo C, Messina D, Musumeci MF, Dessars B, De Leener A, Abramowicz M, and Vilain C
- Subjects
- Child, Exons genetics, Genetic Predisposition to Disease genetics, Humans, Male, Polymerase Chain Reaction methods, Proto-Oncogene Mas, Sequence Deletion genetics, Child Development Disorders, Pervasive genetics, Mutation genetics, Proto-Oncogene Proteins c-met genetics
- Abstract
Autism spectrum disorder (ASD) results from interactions of genetic and environmental factors. The MET proto-oncogene has been identified as a candidate gene for autism susceptibility, and is implicated in neurodevelopment and social brain circuitry. Here, we describe the first case of a familial mutation of MET, consisting of an interstitial genomic deletion removing exons 12 through 15, causing a frameshift and premature stop codon, with evidence of nonsense-mediated mRNA decay. On the other allele, patients carried the C allele of the MET promoter rs1858830 polymorphism, known to decrease MET expression and previously associated with autism susceptibility. The heterozygous mutation was associated with autism in one patient, and language and social impairment in a sibling. Our observations delineate the phenotypic spectrum associated with a clearly defined, very likely complete loss of function mutation of MET. Incomplete penetrance in this family was consistent with MET as a partial susceptibility gene for ASD. Implication of MET in normal and pathological brain development opens new perspectives for understanding the pathophysiology of autism and for eventual therapeutical clues., (© 2014 International Society for Autism Research, Wiley Periodicals, Inc.)
- Published
- 2014
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14. Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.
- Author
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Rice GI, Forte GM, Szynkiewicz M, Chase DS, Aeby A, Abdel-Hamid MS, Ackroyd S, Allcock R, Bailey KM, Balottin U, Barnerias C, Bernard G, Bodemer C, Botella MP, Cereda C, Chandler KE, Dabydeen L, Dale RC, De Laet C, De Goede CG, Del Toro M, Effat L, Enamorado NN, Fazzi E, Gener B, Haldre M, Lin JP, Livingston JH, Lourenco CM, Marques W Jr, Oades P, Peterson P, Rasmussen M, Roubertie A, Schmidt JL, Shalev SA, Simon R, Spiegel R, Swoboda KJ, Temtamy SA, Vassallo G, Vilain CN, Vogt J, Wermenbol V, Whitehouse WP, Soler D, Olivieri I, Orcesi S, Aglan MS, Zaki MS, Abdel-Salam GM, Vanderver A, Kisand K, Rozenberg F, Lebon P, and Crow YJ
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- Adolescent, Adult, Autoantibodies blood, Autoimmune Diseases of the Nervous System genetics, Biomarkers, Case-Control Studies, Child, Child, Preschool, Female, Genetic Heterogeneity, Genotype, Humans, Infant, Interferon Type I blood, Interferon Type I cerebrospinal fluid, Interferon Type I immunology, Male, Mutation, Nervous System Malformations genetics, Neutralization Tests, Prospective Studies, RNA, Messenger biosynthesis, RNA-Binding Proteins, SAM Domain and HD Domain-Containing Protein 1, Up-Regulation, Young Adult, Adenosine Deaminase genetics, Autoimmune Diseases of the Nervous System metabolism, Exodeoxyribonucleases genetics, Gene Expression Regulation, Interferon Type I physiology, Monomeric GTP-Binding Proteins genetics, Nervous System Malformations metabolism, Phosphoproteins genetics, Ribonuclease H genetics
- Abstract
Background: Aicardi-Goutières syndrome (AGS) is an inflammatory disorder caused by mutations in any of six genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR). The disease is severe and effective treatments are urgently needed. We investigated the status of interferon-related biomarkers in patients with AGS with a view to future use in diagnosis and clinical trials., Methods: In this case-control study, samples were collected prospectively from patients with mutation-proven AGS. The expression of six interferon-stimulated genes (ISGs) was measured by quantitative PCR, and the median fold change, when compared with the median of healthy controls, was used to create an interferon score for each patient. Scores higher than the mean of controls plus two SD (>2·466) were designated as positive. Additionally, we collated historical data for interferon activity, measured with a viral cytopathic assay, in CSF and serum from mutation-positive patients with AGS. We also undertook neutralisation assays of interferon activity in serum, and looked for the presence of autoantibodies against a panel of interferon proteins., Findings: 74 (90%) of 82 patients had a positive interferon score (median 12·90, IQR 6·14-20·41) compared with two (7%) of 29 controls (median 0·93, IQR 0·57-1·30). Of the eight patients with a negative interferon score, seven had mutations in RNASEH2B (seven [27%] of all 26 patients with mutations in this gene). Repeat sampling in 16 patients was consistent for the presence or absence of an interferon signature on 39 of 41 occasions. Interferon activity (tested in 147 patients) was negatively correlated with age (CSF, r=-0·604; serum, r=-0·289), and was higher in CSF than in serum in 104 of 136 paired samples. Neutralisation assays suggested that measurable antiviral activity was related to interferon α production. We did not record significantly increased concentrations of autoantibodies to interferon subtypes in patients with AGS, or an association between the presence of autoantibodies and interferon score or serum interferon activity., Interpretation: AGS is consistently associated with an interferon signature, which is apparently sustained over time and can thus be used to differentiate patients with AGS from controls. If future studies show that interferon status is a reactive biomarker, the measurement of an interferon score might prove useful in the assessment of treatment efficacy in clinical trials., Funding: European Union's Seventh Framework Programme; European Research Council., (Copyright © 2013 Elsevier Ltd. All rights reserved.)
- Published
- 2013
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- View/download PDF
15. [A technological platform for cerebral palsy - the ICT4Rehab project].
- Author
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Van Sint Jan S, Wermenbol V, Van Bogaert P, Desloovere K, Degelaen M, Dan B, Salvia P, Ortibus E, Bonnechère B, Le Borgne YA, Bontempi G, Vansummeren S, Sholukha V, Moiseev F, and Rooze M
- Subjects
- Health Records, Personal, Humans, Cerebral Palsy rehabilitation
- Abstract
The musculoskeletal system (MSS) is essential to allow us performing every-day tasks, being able to have a professional life or developing social interactions with our entourage. MSS pathologies have a significant impact on our daily life. It is therefore not surprising to find MSS-related health problems at the top of global statistics on professional absenteeism or societal health costs. The MSS is also involved in central nervous conditions, such as cerebral palsy (CP). Such conditions show complex etiology that complicates the interpretation of the observable clinical signs and the establishment of a wide consensus on the best practices to adopt for clinical monitoring and patient follow-up. These elements justify the organization of fundamental and applied research projects aiming to develop new methods to help clinicians to cope with the complexity of some MSS disorders. The ICT4Rehab project (www.ict4rehab.org) developed an integrated platform providing tools that enable easier management and visualization of clinical information related to the MSS of CP patients. This platform is opened to every interested clinical centre., (© 2013 médecine/sciences – Inserm.)
- Published
- 2013
- Full Text
- View/download PDF
16. [Clinical examination of children with cerebral palsy: is there a consensus between clinicians?].
- Author
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Bonnechère B, Wermenbol V, Dan B, Degelaen M, Salvia P, Rooze M, and Van Sint Jan S
- Subjects
- Child, Diagnostic Techniques, Neurological standards, Humans, Cerebral Palsy diagnosis, Consensus, Practice Patterns, Physicians'
- Abstract
Diagnosis and most of all classification of children with cerebral palsy (CP) remain a challenge for clinicians. To help them in this process, clinicians can rely on several clinical testing procedures as well as complementary investigations. The goal of this study was to determine which clinical tests found in the literature are the most frequently used in common practice in Belgium. Forty tests have been found in the literature. They have been sorted into five different categories: quantitative evaluation of motor function, spasticity evaluation, orthopaedic testing, upper limb evaluation and complementary investigations. Seven clinicians (five medical doctors and two physiotherapists) with a mean experience of sixteen years with CP children answered the questionnaire. Concerning the quantitative evaluation of motor function the most used tests are: Gross Motor Function Classification System, Manual Ability Classification System and the Pediatric Evaluation of Disability Inventory (PEDI). As regards spasticity, Ashworth scale is more frequently used than Tardieu test. No trend currently exist for the upper limb evaluation, but it was noted that these tests are rarely used in clinical practice. We observed a significant use of gait analysis at diagnosis and follow-up of CP children. We conclude that there are large differences between clinicians for clinical examination of CP children. This lack of consensus makes patient data comparison difficult between clinical centers. This seems to indicate that a homogenization effort should be organized if one wishes to better stimulate collaborations between centers.
- Published
- 2013
17. Decreased spontaneous arousability in preterm newborns with impaired neurological outcome.
- Author
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Thiriez G, Tournoud M, Wermenbol V, Vermeylen D, Ecochard R, Iwaz J, Lin JS, and Franco P
- Subjects
- Adult, Cerebral Palsy complications, Cerebral Palsy congenital, Cerebral Palsy physiopathology, Child, Preschool, Female, Gestational Age, Humans, Infant, Infant, Newborn, Infant, Premature, Diseases etiology, Intellectual Disability complications, Intellectual Disability physiopathology, Male, Maternal Age, Movement, Nervous System Diseases complications, Nervous System Diseases congenital, Polysomnography, Retrospective Studies, Sensation Disorders complications, Sensation Disorders congenital, Sensation Disorders physiopathology, Sleep Arousal Disorders complications, Sleep Arousal Disorders congenital, Arousal physiology, Infant, Premature physiology, Infant, Premature, Diseases physiopathology, Nervous System Diseases physiopathology, Sleep physiology, Sleep Arousal Disorders physiopathology, Wakefulness physiology
- Abstract
Preterm newborns are at high risk of neurological injury. In this population, we investigated the link between neurological complications and sleep architecture. At term-corrected gestational age, we studied retrospectively the polysomnography of 45 preterm infants born at < 28 weeks or weighting < 1 kg. These infants were followed-up by a neuropaediatrician (median age at last follow-up 50.4 months). Two groups of children were constituted: a group without neurological disorder and a second group with at least one of the following: cerebral palsy, language or mental retardation, visual or hearing disability or attention disorder. A Multiple Indicators and Multiple Causes model assessed the relationship between the neurological outcome and two sleep components: spontaneous arousability [number of awakenings and movements per hour of quiet sleep (QS) and active sleep] and QS characteristics (median duration of QS cycles and percentage of QS over total sleep time). Twenty-six infants had an impaired neurological outcome. There were no statistical differences between the two groups regarding clinical characteristics. Compared to preterm neonates with normal neurological outcome, those with impaired outcomes had a lower spontaneous arousability; i.e. 0.7 (0.5–1) times less awakenings and movements per hour of QS and 0.9 (0.8–1) times less per hour of active sleep than infants with normal outcomes (P = 0.05). The differences in QS characteristics did not reach statistical significance. These findings suggested that, in preterm infants, perinatal neurological injuries could be associated with an abnormal sleep architecture characterized by altered spontaneous arousability.
- Published
- 2012
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18. Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
- Author
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Anderson BH, Kasher PR, Mayer J, Szynkiewicz M, Jenkinson EM, Bhaskar SS, Urquhart JE, Daly SB, Dickerson JE, O'Sullivan J, Leibundgut EO, Muter J, Abdel-Salem GM, Babul-Hirji R, Baxter P, Berger A, Bonafé L, Brunstom-Hernandez JE, Buckard JA, Chitayat D, Chong WK, Cordelli DM, Ferreira P, Fluss J, Forrest EH, Franzoni E, Garone C, Hammans SR, Houge G, Hughes I, Jacquemont S, Jeannet PY, Jefferson RJ, Kumar R, Kutschke G, Lundberg S, Lourenço CM, Mehta R, Naidu S, Nischal KK, Nunes L, Ounap K, Philippart M, Prabhakar P, Risen SR, Schiffmann R, Soh C, Stephenson JB, Stewart H, Stone J, Tolmie JL, van der Knaap MS, Vieira JP, Vilain CN, Wakeling EL, Wermenbol V, Whitney A, Lovell SC, Meyer S, Livingston JH, Baerlocher GM, Black GC, Rice GI, and Crow YJ
- Subjects
- Base Sequence, Flow Cytometry, Histones metabolism, Molecular Sequence Data, Retinal Telangiectasis pathology, Sequence Analysis, DNA methods, Abnormalities, Multiple genetics, Genetic Predisposition to Disease genetics, Retinal Telangiectasis genetics, Telomere pathology, Telomere-Binding Proteins genetics
- Abstract
Coats plus is a highly pleiotropic disorder particularly affecting the eye, brain, bone and gastrointestinal tract. Here, we show that Coats plus results from mutations in CTC1, encoding conserved telomere maintenance component 1, a member of the mammalian homolog of the yeast heterotrimeric CST telomeric capping complex. Consistent with the observation of shortened telomeres in an Arabidopsis CTC1 mutant and the phenotypic overlap of Coats plus with the telomeric maintenance disorders comprising dyskeratosis congenita, we observed shortened telomeres in three individuals with Coats plus and an increase in spontaneous γH2AX-positive cells in cell lines derived from two affected individuals. CTC1 is also a subunit of the α-accessory factor (AAF) complex, stimulating the activity of DNA polymerase-α primase, the only enzyme known to initiate DNA replication in eukaryotic cells. Thus, CTC1 may have a function in DNA metabolism that is necessary for but not specific to telomeric integrity.
- Published
- 2012
- Full Text
- View/download PDF
19. [Neurodevelopment of extremely low birthweight infants born in Erasmus Hospital between 1992 and 2001].
- Author
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Vermeylen D, Franco P, Wermenbol V, Müller MF, and Pardou A
- Subjects
- Brain Diseases diagnosis, Female, Humans, Infant, Newborn, Infant, Premature, Diseases diagnosis, Longitudinal Studies, Male, Neuropsychological Tests, Brain growth & development, Brain Diseases epidemiology, Infant, Premature, Diseases epidemiology, Infant, Very Low Birth Weight growth & development
- Abstract
Survival of extremely low birth weight infants has dramatically improved in the last decade of the twentieth century. The objective of our study was to evaluate the neurological evolution of the surviving infants because frequent motor, sensitive and psychological disturbances are related. Prospective, longitudinal study in a population of newborns, nursed in our neonatal intensive care unit and born between 1992 and 2001 with less than 1.000 g and/or less than 28 weeks of gestational age (GA). Neurological assessment of outcome was made using the neurodevelopmental score (O.M.S. 1988) at 6, 9, 12, 18, 24 and 36 months. Neurological follow-up every year and neuropsychological testing at 3, 5 and 8 years. Only children with at least 2 years of follow-up were included. The children were grouped in 3 categories: M (major neurological handicap), m (minor neurological handicap), N (normal neurological outcome). To evaluate the evolution with time, we compared the results from the first period (1992 to 1996) to the second part of this decade (1997 to 2001). Mortality fell from 38% (27/70) in the first period (1992-1996) to 18% (8/44) in the second one (1997-2001) (p = 0.02) including neonates of less than 25 weeks GA. Neurodevelopmental status improved and severe brain lesions decreased (25% with intraventricular haemorrhage III & IV and cystic periventricular leukomalacia versus 6% in the second period) (p = 0.017). Major handicap fell from 26% (9/34) to 16% (5/31) and normal neurological evolution raised from 15% (5/34) to 48% (15/31) (p = 0.013). With the survival of newborns less than 28 weeks, the severe ocular complications increased: 6% (5/79). In conclusion, mortality and quality of life have significantly improved in the past 10 years in our service. Severe brain lesions have decreased under a better multifactorial management. Nevertheless when the gestational age of the surviving babies diminishes, ocular sequelae increase. We still think that prematurity remains a burden for the child, his family and the society.
- Published
- 2004
20. The influence of a pacifier on infants' arousals from sleep.
- Author
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Franco P, Scaillet S, Wermenbol V, Valente F, Groswasser J, and Kahn A
- Subjects
- Female, Humans, Infant, Male, Time Factors, Arousal physiology, Infant Care, Sleep physiology
- Abstract
Objective: The risk of sudden infant death during sleep was postulated to decrease with the use of a pacifier and by conditions facilitating arousals from sleep. We evaluated the influence of a pacifier on arousal from sleep in healthy infants., Study Design: Fifty-six healthy infants were studied with polygraphy during 1 night; 36 infants used a pacifier regularly during sleep, and 20 never used a pacifier. Thumb users or occasional pacifier users were not included in the study. The infants were recorded at a median age of 10 weeks (range 6 to 19 weeks). To evaluate auditory arousal thresholds, the infants were exposed to white noise of increasing intensity during rapid eye movement sleep., Results: Polygraphic arousals occurred at significantly lower auditory stimuli in pacifier users than in nonusers (P =.010). Compared with nonusers, pacifier users were more frequently bottle-fed than breast-fed (P =. 036). Among infants sleeping without a pacifier, breast-fed infants had lower auditory thresholds than bottle-fed infants (P =.049)., Conclusions: Infants using pacifiers during sleep had lower auditory arousal thresholds than those who did not use a pacifier during sleep. Breast-feeding could be a further factor contributing to lower arousal thresholds. These findings could be relevant to the occurrence of sudden infant deaths during sleep.
- Published
- 2000
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