47 research outputs found
Synthèse impulsionnelle des systèmes séquentiels
No full textDoctorat en Sciencesinfo:eu-repo/semantics/nonPublishe
Adult phenotype of KCNQ2 encephalopathy
No full textBACKGROUND: Pathogenic KCNQ2 variants are a frequent cause of developmental and epileptic encephalopathy.METHODS: We recruited 13 adults (between 18 years and 45 years of age) with KCNQ2 encephalopathy and reviewed their clinical, EEG, neuroimaging and treatment history.RESULTS: While most patients had daily seizures at seizure onset, seizure frequency declined or remitted during childhood and adulthood. The most common seizure type was tonic seizures (early) infancy, and tonic-clonic and focal impaired awareness seizures later in life. Ten individuals (77%) were seizure-free at last follow-up. In 38% of the individuals, earlier periods of seizure freedom lasting a minimum of 2 years followed by seizure recurrence had occurred. Of the 10 seizure-free patients, 4 were receiving a single antiseizure medication (ASM, carbamazepine, lamotrigine or levetiracetam), and 2 had stopped taking ASM. Intellectual disability (ID) ranged from mild to profound, with the majority (54%) of individuals in the severe category. At last contact, six individuals (46%) remained unable to walk independently, six (46%) had limb spasticity and four (31%) tetraparesis/tetraplegia. Six (46%) remained non-verbal, 10 (77%) had autistic features/autism, 4 (31%) exhibited aggressive behaviour and 4 (31%) destructive behaviour with self-injury. Four patients had visual problems, thought to be related to prematurity in one. Sleep problems were seen in six (46%) individuals.CONCLUSION: Seizure frequency declines over the years and most patients are seizure-free in adulthood. Longer seizure-free periods followed by seizure recurrence are common during childhood and adolescence. Most adult patients have severe ID. Motor, language and behavioural problems are an issue of continuous concern
“Letter to the King” By Jules Destry: from Separatism to Unitarism in Belgium
No full textContradictions between the regions of Belgium - Wallonia and Flanders - have a long history associated with uneven political, economic and cultural development of the territories, which in 1830 became parts of an independent state, the Kingdom of Belgium. The "Letter to the King", written by eminent Belgian politician and writer, socialist Jules Destree (1863 - 1936 gg.), is one of the most interesting sources on the history of Belgium of this period, It became a kind of manifesto of balance between the ideas of separatism and unitarianism. This article includes excerpts from the "Letter to the King", which were given for the first time in the author's Russian translation and conducted historical criticism of the source. The study is based on a set of scientific methods and approaches, including the principle of scientific objectivity and systematic approach, used in historical research. The main methods are problematic and historical-comparative analysis, classification and comparison of political and historical concepts. An external source of criticism included information about the place and the time of the creation of document, the biography of the author studies; internal critic source recreates the idea of the letter and the background of historical events. Prominent Belgian politician and writer, socialist Jules Destree (1863 - 1936), highly appreciated the personal qualities of King Albert I, appealed to his experience and political vision, describing all the problems Walloons faced in their opposition to the Flemish. Destree in his letter opposed the unequal development of the regions of Belgium and the protectionist policies of the central government in respect to the detriment of Flanders Wallonia. He summarized and formulated the factors that, in his opinion, interfere with the full development of his country. Destree pays great attention to linguistic differences, which were at the heart of conflicts between Walloons and Flemings, and are still shaken by Belgium. He reflects on the fact that the central government should be doing to reduce the national tensions that unites two people, and that the shares, which should be a system of education that future generations were able to overcome the historical alienation of such geographically close and ideologically distant peoples. Although Jules Destree firmly defends separatism idea for Wallonia as the only solution to the problem, however, by the end of his letter, reasoning it takes a more balanced position. The idea of a unitary state was not denied completely, but Destree emphasizes the importance of a balanced central government policy in relation to the regions in order to reduce internal tensions between the two nations. The ideas embodied in his "Letter to the King", formed the basis of the principles of peaceful co-existence of further autonomous regions as part of the union, which was manifested in the future during the First World War, when the Walloons and Flemings alongside confronted a common enemy
Le point en néonatologie
No full textDuring the last years, neonatology has greatly improved. In the last decade, mortality and morbidity have decreased :mortality from respiratory failure of prematurity has decreased from 22% to 12%, mortality of the very low birthweight infants under 1000 g fell from 56% to 35% and mortalities related to asphyxia have diminished from 21% to 12% and to malformations from 33% to 28%. Prematurity is now the first cause of neonatal mortality. During this period, the number of babies under 1000 g has increased 4-fold and the number of multiple births increased more than 2-fold from 3% to 7% of the live births of our hospital. Attitudes towards the premature infant have changed, especially towards the extremely small (called the micropremies). The number of disabled children has increased in parallel with the better survival of the very immature newborns who till recently were not rescuscitated.SCOPUS: ar.jinfo:eu-repo/semantics/publishe
Two members of the Fxr gene family, Fmr1 and Fxr1, are differentially expressed in Xenopus tropicalis
No full textEncres anciennes: utilisation non conventionnelle d'aliments
No full textInternational audienceDe tout temps l'homme utilise des pigments pour peindre. Il y a 27.000 ans déjà, près de Marseille, dans la grotte Cosquer, des fresques furent peintes par des hommes préhistoriques. Il existe deux grandes catégories de pigments et colorants: les naturels et les artificiels. La première catégories contient les pigments minéraux tels que les argiles (ocre jaune ou rouge, argile verte ou brune) mais aussi des pierres (lapis lazuli (bleu)) et les pigments organiques d'origine végétale (gaude (jaune)) ou d'origine animale (murex (pourpre). La deuxième catégorie contient les pigments et colorants artificiels issus de réactions chimiques (minium (orange)) ou bien des mi-végétaux, mi-minéraux comme les encres ferro-galliques classés dans les divers. Après avoir servi pendant plusieurs siècles, tous ces pigments ont été remplacés à la fin du XIXe par des colorants synthétiques issus de la pétrochimie, car ces derniers ont l'avantage de la reproductibilité constante des couleurs. Mais la fin programmée du pétrole suscite un regain d'intérêt pour les préparations naturelles. C'est donc très logiquement que notre laboratoire a décidé de s'intéresser au sujet et en particulier aux encres venant du jus de chou rouge et aux encres ferro-grenadiques en collaboration avec l'Abbaye de Villers-la-Ville
Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1–q25.32: Genotype–phenotype correlations of chromosome 3q25 deletion syndrome
No full textFusion of the BCL9 HD2 domain to E1A increases the cytopathic effect of an oncolytic adenovirus that targets colon cancer cells
No full textSwiss Cancer League, Swiss National Science Foundation and SNSF NCCR Molecular Oncology ProgrammeBackground: The Wnt signaling pathway is activated by mutations in the APC and beta-catenin genes in many types of human cancer. beta-catenin is stabilized by these mutations and activates transcription in part by acting as a bridge between Tcf/LEF proteins and the HD2 domain of the BCL9 coactivator. We have previously described oncolytic adenoviruses with binding sites for Tcf/LEF transcription factors inserted into the early viral promoters. These viruses replicate selectively in cells with activation of the Wnt pathway. To increase the activity of these viruses we have fused the viral transactivator E1A to the BCL9 HD2 domain. Methods: Luciferase assays, co-immunoprecipitation and Western blotting, immunofluorescent cell staining and cytopathic effect assays were used to characterize the E1A-HD2 fusion protein and virus in vitro. Growth curves of subcutaneous SW620 colon cancer xenografts were used to characterize the virus in vivo. Results: The E1A-HD2 fusion protein binds to beta-catenin in vivo and activates a Tcf-regulated luciferase reporter better than wild-type E1A in cells with activated Wnt signaling. Expression of the E1A-HD2 protein promotes nuclear import of beta-catenin, mediated by the strong nuclear localization signal in E1A. Tcf-regulated viruses expressing the fusion protein show increased expression of viral proteins and a five-fold increase in cytopathic effect (CPE) in colorectal cancer cell lines. There was no change in viral protein expression or CPE in HeLa cells, indicating that E1A-HD2 viruses retain selectivity for cells with activation of the Wnt signaling pathway. Despite increasing the cytopathic effect of the virus in vitro, fusion of the HD2 domain to E1A did not increase the burst size of the virus in vitro or the anti-tumor effect of the virus in an SW620 xenograft model in vivo. Conclusion: Despite an increase in the nuclear pool of beta-catenin, the effects on viral activity in colon cancer cells were small, suggesting that factors acting downstream of beta-catenin are limiting for viral replication and toxicity in these cells. The approach of fusing E1A to a protein domain implicated in oncogenic signaling could be used to selectively increase the activity of oncolytic viruses targeting several other pathways defective in cancer.Peer reviewe
Diagnosis of Kabuki syndrome with unreported KMT2D pathogenic variant: contribution of prenatal facial dysmorphology analysis and whole exome sequencing – about a clinical report and review of the literature
No full textKabuki syndrome (KS) defines a rare heterogenous clinical genetic disorder confirmed by identification of heterozygous mutations in KMT2D or KDM6A genes. Postnatal hallmarks include developmental delay, distinctive facial dysmorphism and multiple congenital anomalies. Current report presents prenatal findings of a fetus diagnosed postnatally with a so far unreported KMT2D pathogenic variant. The prenatal phenotype of KS is highly variable and non-specific. Congenital cardiac left-sided lesion associated with poor fetal growth, abnormal aspect of the external ear and polyhydramnios was observed in our case. An accurate 3D-analysis of the fetal face at the 25th, 30th and 34th week of gestation was not helpful for the diagnosis, except for the external ear evaluation. KS can be diagnosed during the pregnancy as whole exome sequencing (WES) has shown a particular benefit at improving the diagnosis yield with non-isolated congenital cardiac defects after absence of submicroscopic pathogenic copy number variations (CNVs) on molecular karyotype. Update recommendation on the use of WES in pregnancies with multiple congenital anomalies and heart defect should definitively increase prenatal diagnosis of KS in order to provide precise genetic counselling, giving parents the option to choose whether to continue or not the pregnancy or to prepare the childcare at birth
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies
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