References of "Bours, Vincent"
     in
Bookmark and Share    
Full Text
Peer Reviewed
See detailGPR101 mutations are not a frequent cause of congenital isolated growth hormone deficiency
Castinetti, F; Daly, Adrian ULg; Stratakis, CA et al

in Hormone & Metabolic Research (2016)

Detailed reference viewed: 31 (9 ULg)
Full Text
Peer Reviewed
See detailPrognostic relevance of epilepsy at presentation in glioblastoma patients.
Berendsen, Sharon; Varkila, Meri; Kroonen, Jerome et al

in Neuro-oncology (2016)

BACKGROUND: Epileptogenic glioblastomas are thought to convey a favorable prognosis, either due to early diagnosis or potential antitumor effects of antiepileptic drugs. We investigated the relationship ... [more ▼]

BACKGROUND: Epileptogenic glioblastomas are thought to convey a favorable prognosis, either due to early diagnosis or potential antitumor effects of antiepileptic drugs. We investigated the relationship between survival and epilepsy at presentation, early diagnosis, and antiepileptic drug therapy in glioblastoma patients. METHODS: Multivariable Cox regression was applied to survival data of 647 consecutive patients diagnosed with de novo glioblastoma between 2005 and 2013 in order to investigate the association between epilepsy and survival in glioblastoma patients. In addition, we quantified the association between survival and valproic acid (VPA) treatment. RESULTS: Epilepsy correlated positively with survival (HR: 0.75 (95% CI: 0.61-0.92), P < .01). This effect is independent of age, sex, performance status, type of surgery, adjuvant therapy, tumor location, and tumor volume, suggesting that this positive correlation cannot be attributed solely to early diagnosis. For patients who presented with epilepsy, the use of the antiepileptic drug VPA did not associate with survival when compared with patients who did not receive VPA treatment. CONCLUSION: Epilepsy is an independent prognostic factor for longer survival in glioblastoma patients. This prognostic effect is not solely explained by early diagnosis, and survival is not associated with VPA treatment. [less ▲]

Detailed reference viewed: 21 (5 ULg)
Full Text
Peer Reviewed
See detailCytogenetic Studies of Rwandan Pediatric Patients Presenting with Global Developmental Delay, Intellectual Disability and/or Multiple Congenital Anomalies.
Uwineza, Annette; Hitayezu, Janvier; JAMAR, Mauricette ULg et al

in Journal of tropical pediatrics (2016)

Global developmental delay (GDD) is defined as a significant delay in two or more developmental domains: gross or fine motor, speech/language, cognitive, social/personal and activities of daily living ... [more ▼]

Global developmental delay (GDD) is defined as a significant delay in two or more developmental domains: gross or fine motor, speech/language, cognitive, social/personal and activities of daily living. Many of these children will go on to be diagnosed with intellectual disability (ID), which is most commonly defined as having an IQ <75 in addition to impairment in adaptive functioning. Cytogenetic studies have been performed in 664 Rwandan pediatric patients presenting GDD/ID and/or multiple congenital abnormalities (MCA). Karyotype analysis was performed in all patients and revealed 260 chromosomal abnormalities. The most frequent chromosomal abnormality was Down syndrome and then Edward syndrome and Patau syndrome. Other identified chromosomal abnormalities included 47,XX,+del(9)(q11), 46,XY,del(13)(q34) and 46,XX,der(22)t(10;22)(p10;p10)mat. In conclusion, our results highlight the high frequency of cytogenetically detectable abnormalities in this series, with implications for the burden on the healthcare. This study demonstrates the importance of cytogenetic analysis in patients with GDD/ID and MCA. [less ▲]

Detailed reference viewed: 12 (4 ULg)
Full Text
Peer Reviewed
See detailIdentification and frequencies of cystic fibrosis mutations in central Argentina.
Pepermans, Xavier; Mellado, Soledad; Chialina, Sergio et al

in Clinical biochemistry (2016)

Detailed reference viewed: 59 (5 ULg)
Full Text
Peer Reviewed
See detailInfluence of COMT Genotype on Antero-Posterior Cortical Functional Connectivity Underlying Interference Resolution
Jaspar, Mathieu ULg; Manard, Marine ULg; DIDEBERG, Vinciane ULg et al

in Cerebral Cortex (2016), 26

Genetic variability related to the catechol-O-methyltransferase (COMT) gene (Val158Met) has received increasing attention as a possible modulator of executive functioning and its neural correlates ... [more ▼]

Genetic variability related to the catechol-O-methyltransferase (COMT) gene (Val158Met) has received increasing attention as a possible modulator of executive functioning and its neural correlates. However, this attention has generally centred on the prefrontal cortices because of the well-known direct impact of COMT enzyme on these cerebral regions. In this study, we were interested in the modulating effect of COMT genotype on anterior and posterior brain areas underlying interference resolution during a Stroop task. More specifically, we were interested in the functional connectivity between the right inferior frontal operculum (IFop), an area frequently associated with inhibitory efficiency, and posterior brain regions involved in reading/naming processes (the two main non-executive determinants of the Stroop effect). The Stroop task was administered during fMRI scanning to three groups of 15 young adults divided according to their COMT Val158Met genotype [Val/Val (VV), Val/Met (VM) and Met/Met (MM)]. Results indicate greater activity in the right IFop and the left middle temporal gyrus (MTG) in homozygous VV individuals than in Met allele carriers. In addition, the VV group exhibited stronger positive functional connectivity between these two brain regions and stronger negative connectivity between the right IFop and left lingual gyrus. These results confirm the impact of COMT genotype on frontal function. They also strongly suggest that differences in frontal activity influence posterior brain regions related to a non-executive component of the task. Especially, changes in functional connectivity between anterior and posterior brain areas might correspond to compensatory processes for performing the task efficiently when the available dopamine level is low. [less ▲]

Detailed reference viewed: 65 (31 ULg)
Peer Reviewed
See detailCirculating microRNA-based screening tool for breast cancer
Freres, Pierre ULg; Wenric, Stéphane ULg; Boukerroucha, Meriem et al

in Oncotarget (2015)

Circulating microRNAs (miRNAs) are increasingly recognized as powerful biomarkers in several pathologies, including breast cancer. Here, their plasmatic levels were measured to be used as an alternative ... [more ▼]

Circulating microRNAs (miRNAs) are increasingly recognized as powerful biomarkers in several pathologies, including breast cancer. Here, their plasmatic levels were measured to be used as an alternative screening procedure to mammography for breast cancer diagnosis. A plasma miRNA profile was determined by RT-qPCR in a cohort of 378 women. A diagnostic model was designed based on the expression of 8 miRNAs measured first in a profiling cohort composed of 41 primary breast cancers and 45 controls, and further validated in diverse cohorts composed of 108 primary breast cancers, 88 controls, 35 breast cancers in remission, 31 metastatic breast cancers and 30 gynecologic tumors. A receiver operating characteristic curve derived from the 8-miRNA random forest based diagnostic tool exhibited an area under the curve of 0.81. The accuracy of the diagnostic tool remained unchanged considering age and tumor stage. The miRNA signature correctly identified patients with metastatic breast cancer. The use of the classification model on cohorts of patients with breast cancers in remission and with gynecologic cancers yielded prediction distributions similar to that of the control group. Using a multivariate supervised learning method and a set of 8 circulating miRNAs, we designed an accurate, minimally invasive screening tool for breast cancer. [less ▲]

Detailed reference viewed: 81 (26 ULg)
Full Text
See detailUne forme compliquée d'hypercalcémie hypocalciurique familiale
Potorac, Iulia ULg; BETEA, Daniela ULg; MALAISE, Olivier ULg et al

in Abstract book - Annales d'Endocrinologie - 32ème Congrès de la Société Française d'Endocrinologie (2015, October)

Detailed reference viewed: 32 (6 ULg)
Full Text
See detailHyperparathyroïdie primaire familiale isolée - corrélation génotype - phénotype des mutations MEN 1?
Potorac, Iulia ULg; BETEA, Daniela ULg; PETROSSIANS, Patrick ULg et al

in Abstract book - Annales d'Endocrinologie - 32ème Congrès de la Société Française d'Endocrinologie (2015, October)

Detailed reference viewed: 38 (8 ULg)
Full Text
See detailHypogonadisme hypogonadotrope normosmique familial : identification d'une nouvelle mutation c.1664-2A> T du gène FGFR1
VALDES SOCIN, Hernan Gonzalo ULg; Pintiaux, Axelle ULg; LIBIOULLE, Cécile ULg et al

in Abstract book - Annales d'Endocrinologie - 32ème Congrès de la Société Française d'Endocrinologie (2015, October)

Detailed reference viewed: 26 (4 ULg)
Full Text
See detailEtude moléculaire du gène AIP sur plus de 1400 individus atteints d'adénome hypophysaire
CASTERMANS, Emilie ULg; Auriemma, R; Rostomyan, Liliya ULg et al

in Abstract book - Annales d'Endocrinologie - 32ème Congrès de la Société Française d'Endocrinologie (2015, October)

Detailed reference viewed: 30 (4 ULg)
Full Text
Peer Reviewed
See detailCLEC-2 is required for the activation of mouseplatelets by bacterial DNA mimetics
Delierneux, Céline ULg; Hego, Alexandre ULg; LECUT, Christelle ULg et al

Conference (2015, June 22)

Background: Short nuclease-resistant phosphorothioate synthetic CpG motif-bearing oligonucleotides (CpG ODNs) mimicking bacterial DNA display potent immunostimulatory activity and are therefore being used ... [more ▼]

Background: Short nuclease-resistant phosphorothioate synthetic CpG motif-bearing oligonucleotides (CpG ODNs) mimicking bacterial DNA display potent immunostimulatory activity and are therefore being used in clinical trials as vaccine adjuvants. Cellular uptake and activation depends on the interaction of CpG ODNs with the C-type lectin receptor DEC-205 and subsequent stimulation of the Toll-like receptor 9 (TLR9) and myeloid differentiation primary response 88 (MyD88) signaling cascade. Platelets express TLR9, MyD88, and the C-type lectin-like receptor 2 (CLEC-2). However, the impacts of CpG ODNs on platelet function have been elusive. Aims: To evaluate whether CpG ODNs affect platelet activation and thrombus formation via CLEC-2 and TLR9. Methods: We incubated washed platelets or whole blood from TLR9-, MyD88- or CLEC-2- deficient mice with CpG ODNs. We performed platelet aggregometry, flow cytometric binding and platelet activation assays as well as signal transduction analyses. Thrombus formation and fibrin generation were also analyzed by intravital microscopy in mouse microcirculation upon intravenous injection of CpG ODNs. Results: We show that CpG ODNs bind on platelet surface and are internalized. They activate platelets and induce their aggregation. TLR9- or MyD88-deficient platelets aggregated normally in response to CpG ODN. Interestingly, platelets deficient for the C-type lectin receptor CLEC-2 were unable to capture and internalize CpG ODN. CLEC-2 deficiencyabolished CpG ODN-induced platelet activation and aggregation. CpG ODN stimulated CLEC-2 dependent tyrosine kinase pathway and Syk phosphorylation. In vivo, intravenously injected CpG ODN interacted with platelets adhered to laser injured arteriolar endothelia and promoted fibrin generation and thrombus growth. Conclusion: CLEC-2 mediates CpG ODN uptake and subsequent platelet activation, independently of TLR9, which may serve an important role in the interplay between platelets and immunity. [less ▲]

Detailed reference viewed: 21 (4 ULg)
Full Text
Peer Reviewed
See detailCLEC-2 is required for the activation of mouse platelets by bacterial DNA mimetics
Delierneux, Céline ULg; Hego, Alexandre ULg; LECUT, Christelle ULg et al

Conference (2015, June 22)

Aims: To evaluate whether CpG ODNs affect platelet activation and thrombus formation via CLEC-2 and TLR9. Methods: We incubated washed platelets or whole blood from TLR9-, MyD88- or CLEC-2- deficient mice ... [more ▼]

Aims: To evaluate whether CpG ODNs affect platelet activation and thrombus formation via CLEC-2 and TLR9. Methods: We incubated washed platelets or whole blood from TLR9-, MyD88- or CLEC-2- deficient mice with CpG ODNs. We performed platelet aggregometry, flow cytometric binding and platelet activation assays as well as signal transduction analyses. Thrombus formation and fibrin generation were also analyzed by intravital microscopy in mouse microcirculation upon intravenous injection of CpG ODNs. Results: We show that CpG ODNs bind on platelet surface and are internalized. They activate platelets and induce their aggregation. TLR9- or MyD88-deficient platelets aggregated normally in response to CpG ODN. Interestingly, platelets deficient for the C-type lectin receptor CLEC-2 were unable to capture and internalize CpG ODN. CLEC-2 deficiency abolished CpG ODN-induced platelet activation and aggregation. CpG ODN stimulated CLEC-2 dependent tyrosine kinase pathway and Syk phosphorylation. In vivo, intravenously injected CpG ODN interacted with platelets adhered to laser injured arteriolar endothelia and promoted fibrin generation and thrombus growth. Conclusion: CLEC-2 mediates CpG ODN uptake and subsequent platelet activation, independently of TLR9, which may serve an important role in the interplay between platelets and immunity. [less ▲]

Detailed reference viewed: 29 (1 ULg)
See detailLiposomes entrapping apigenin for the treatment of glioblastoma
Karim, Reatul ULg; Palazzo, Claudio ULg; Dubois, Nadège ULg et al

Poster (2015, April 17)

Detailed reference viewed: 53 (22 ULg)
Full Text
Peer Reviewed
See detailBRCA1 germline mutation and glioblastoma development: report of cases
Boukerroucha, Meriem ULg; Josse, Claire ULg; SEGERS, Karin ULg et al

in BMC Cancer (2015), 15

Background Germline mutations in breast cancer susceptibility gene 1 (BRCA1) increase the risk of breast and ovarian cancers. However, no association between BRCA1 germline mutation and glioblastoma ... [more ▼]

Background Germline mutations in breast cancer susceptibility gene 1 (BRCA1) increase the risk of breast and ovarian cancers. However, no association between BRCA1 germline mutation and glioblastoma malignancy has ever been highlighted. Here we report two cases of BRCA1 mutated patients who developed a glioblastoma (GBM). Cases presentation Two patients diagnosed with triple negative breast cancer (TNBC) were screened for BRCA1 germline mutation. They both carried a pathogenic mutation introducing a premature STOP codon in the exon 11 of the BRCA1 gene. Few years later, both patients developed a glioblastoma and a second breast cancer. In an attempt to clarify the role played by a mutated BRCA1 allele in the GBM development, we investigated the BRCA1 mRNA and protein expression in breast and glioblastoma tumours for both patients. The promoter methylation status of this gene was also tested by methylation specific PCR as BRCA1 expression is also known to be lost by this mechanism in some sporadic breast cancers. Conclusion Our data show that BRCA1 expression is maintained in glioblastoma at the protein and the mRNA levels, suggesting that loss of heterozygosity (LOH) did not occur in these cases. The protein expression is tenfold higher in the glioblastoma of patient 1 than in her first breast carcinoma, and twice higher in patient 2. In agreement with the high protein expression level in the GBM, BRCA1 promoter methylation was not observed in these tumours. In these two cases, despite of a BRCA1 pathogenic germline mutation, the tumour-suppressor protein expression is maintained in GBM, suggesting that the BRCA1 mutation is not instrumental for the GBM development. [less ▲]

Detailed reference viewed: 39 (7 ULg)
Full Text
See detailA tale of two anomalies. A paternal duplication and a maternal deletion of 15q13
BULK, Saskia ULg; Decortis, Thierry ULg; Rondia, G et al

Poster (2015, March 06)

Detailed reference viewed: 20 (2 ULg)
Full Text
See detailCongenital gigantism in a girl with anterior pituitary hyperplasia : a new genes for a new disease
Lysy, PA; Daly, Adrian ULg; Brunelle, C et al

in Abstract book - 43ème Congrès Annuel de la Société Belge de Pédiatrie (2015, March)

Detailed reference viewed: 40 (0 ULg)
Full Text
See detailX-Linked acro-gigantism (X-LAG) syndrome : a new form of infant-onset pituitary gigantism
Stratakis, CA; Trivellin, G; Rostomyan, Liliya ULg et al

in Abstract book - 14th International Pituitary Congress (2015, March)

Detailed reference viewed: 29 (2 ULg)