Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus

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.0SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Suivi neurdéveloppemental des prématurissimes nés à l'Hôpital Erasme entre 1992 et 2001

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p.Gly743Val Mutation in COL4A1 Is Responsible for Familial Porencephaly and Severe Hypermetropia

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.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Autosomal dominant spastic paraplegia with corpus callosum hypotrophy associated with a novel TUBβ4A mutation

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The influence of a pacifier on infants' arousals from sleep

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Le suivi systématique des grands prématurés

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.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Les jeux vidéo (bientôt) au service des patients ?

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Examen clinique de l'enfant infirme moteur cérébral: existe-t-il un consensus entre les praticiens?

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.English AbstractJournal ArticleMulticenter StudyResearch Support, Non-U.S. Gov'tSCOPUS: ar.jinfo:eu-repo/semantics/publishe

Altered autonomic control in preterm newborns with impaired neurological outcomes

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.SCOPUS: ar.jinfo:eu-repo/semantics/publishe

Développement d'instruments partagés pour la gestion et l'interprétation de données relatives à la locomoation :le projet ICT4Rehab

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