Isolated hypoglossal palsy due to cervical osteophyte

SummaryIntroductionIsolated hypoglossal nerve palsy is rare, and etiological diagnosis is difficult. We report a case of isolated hypoglossal compression by a cervical osteophyte in the hypoglossal canal exit.Case studyAn 86-year-old woman with history of cervical spondylotic myelopathy consulted for a lesion of the free edge of the tongue with impaired elocution. Clinical examination found a bite lesion on the right free edge of the tongue with right lingual amyotrophy and associated left deviation on retraction. Isolated right hypoglossal palsy was diagnosed. Skull base CT found a cervical osteophyte compressing the hypoglossal nerve at the exit from the right hypoglossal canal. Surgery was contra-indicated by the patient's general health status. No motor recovery was observed at 6 months’ follow-up, but the elocution disorders regressed under speech therapy.ConclusionHypoglossal palsy is infrequent, but generally a sign of skull base pathology. History-taking and careful examination guide rational selection of the radiological examinations required for etiological diagnosis

Using an information ecology approach to identify research areas: Findings from Chile

This report presents the main conclusions of the case study about Public Access to ICT (PAI) venues that was developed as part of the first stage of the project entitled The Global Impact Study of Public Access to Information and Communication Technologies. The study was developed between June and September 2008 in Chile. The objective of this study was to characterize the infrastructure, of the public access venues, their users, their main activities and their role in the community in which they are immersed. Based on these results, the aim was to generate plausible hypothesis about the impact of the public access to ICT and design feasible research projects to test these hypothesis during the second stage of the project. The report describes the method used in the study, and then it presents the results. Based on them, it describes possible research projects and finally discusses its implementation.International Development Research Centre and Bill & Melinda Gates Foundatio

Paléolithique moyen dans le Sud du Massif central : les données du Velay (Haute-Loire, France)

pdf fourni par l'éditeur pour une utilisation comme "tiré à part" à usage strictement scientifique et personnel. Attached pdf is realeased by the editor as an electronic equivalent of author's reprints and should not be reproduced or redistributed. Copyright should be strictly observed.Numerous field surveys, including an inventory of severalhundreds of raw material sources between western Caussesand the Rhône valley, a revision of old or unpublished seriesand the data provided by excavations undertaken from 1974to 1996 form the matter of this collective update. Results arefocused on Middle Palaeolithic after excavations in key-sitesfrom Haute-Loire, Sainte-Anne 1 cave at Polignac andBaume-Vallée rock-shelter at Solignac-sur-Loire and finallyreplaced in a regional frame. From a technological point ofview, Levallois and discoid debitage are mainly used alongwith a discrete Quina type flaking, except for the Baume-Vallée series. A combined operative chain is even possible.The simultaneous use of different debitage concepts does notsupport a cultural interpretation of operative chains in MiddlePalaeolithic.Différentes études de terrain - dont notamment un inventaire de plusieurs centaines de ressources minérales entre les Causses de l'Ouest et les rives du Rhône - l'exploitation des matériaux issus des fouilles conduites de 1974 à 1996 en Velay dans des milieux clos et la révision de séries anciennes ou inédites sont la matière de ce bilan collectif. Les résultats présentés concernent principalement le Paléolithique moyen à partir de l'étude de deux sites-clés de Haute-Loire, la grotte de Sainte-Anne 1 à Polignac et l'abri-sous-roche de Baume-Vallée à Solignac-sur-Loire, replacés in fine dans un cadre régional plus vaste. D'un point de vue technologique, le recours aux deux concepts de débitage Levallois et Discoïde est le plus fréquent dans les différentes séries étudiées et l'on observe, hormis les séries de Baume-Vallée, une présence ténue du concept de débitage Quina. Il semble même que l'on puisse envisager dans certains cas une mixité de la chaîne opératoire de débitage. Cet usage simultané de différents concepts va à l'encontre d'une interprétation culturelle de la variabilité des chaînes opératoire de débitage au Paléolithique moyen

IKZF1 deletion is an independent prognostic marker in childhood B-cell precursor acute lymphoblastic leukemia and distinguishes patients benefiting from pulses during maintenance therapy: results of the EORTC Children's Leukemia Group study 58951

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IKZF1 deletion is an independent prognostic marker in childhood B-cell precursor acute lymphoblastic leukemia, and distinguishes patients benefiting from pulses during maintenance therapy: results of the EORTC Chrildren's Leukemia Group study 58951

The added value of IKZF1 gene deletion (IKZF1(del)) as a stratifying criterion in B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is still debated. We performed a comprehensive analysis of the impact of IKZF1(de)l in a large cohort of children (n = 1223) with BCR-ABL1-negative BCP-ALL treated in the EORTC-CLG trial 58951. Patients with IKZF1(del) had a lower 8-year event-free survival (EFS, 67.7% versus 86.5%; hazard ratio (HR) = 2.41; 95% confidence interval (CI) = 1.75-3.32; P < 0.001). Importantly, despite association with high-risk features such as high minimal residual disease, IKZF1(del) remained significantly predictive in multivariate analyses. Analysis by genetic subtype showed that IKZF1(del) increased risk only in the high hyperdiploid ALLs (HR = 2.57; 95% CI = 1.19-5.55; P = 0.013) and in 'B-other' ALLs, that is, lacking classifying genetic lesions (HR = 2.22; 95% CI = 1.45-3.39; P < 0.001), the latter having then a dramatically low 8-year EFS (56.4; 95% CI = 44.6-66.7). Among IKZF1(del)-positive patients randomized for vincristine-steroid pulses during maintenance, those receiving pulses had a significantly higher 8-year EFS (93.3; 95% CI = 61.3-99.0 versus 42.1; 95% CI = 20.4-62.5). Thus, IKZF1(del) retains independent prognostic significance in the context of current risk-adapted protocols, and is associated with a dismal outcome in 'B-other' ALL. Addition of vincristine-steroid pulses during maintenance may specifically benefit to IKZF1(del) patients in preventing relapses

IKZF1 deletion is an independent prognostic marker in childhood B-cell precursor acute lymphoblastic leukemia and distinguishes patients benefiting from pulses during maintenance therapy: results of the EORTC Children's Leukemia Group study 58951

International audienc

Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network

International audienceJuvenile myelomonocytic leukemia (JMML) is a rare and severe myelodysplastic and myeloproliferative neoplasm of early childhood initiated by germline or somatic RAS-activating mutations. Genetic profiling and whole-exome sequencing of a large JMML cohort (118 and 30 cases, respectively) uncovered additional genetic abnormalities in 56 cases (47%). Somatic events were rare (0.38 events/Mb/case) and restricted to sporadic (49/78; 63%) or neurofibromatosis type 1 (NF1)-associated (8/8; 100%) JMML cases. Multiple concomitant genetic hits targeting the RAS pathway were identified in 13 of 78 cases (17%), disproving the concept of mutually exclusive RAS pathway mutations and defining new pathways activated in JMML involving phosphoinositide 3-kinase (PI3K) and the mTORC2 complex through RAC2 mutation. Furthermore, this study highlights PRC2 loss (26/78; 33% of sporadic JMML cases) that switches the methylation/acetylation status of lysine 27 of histone H3 in JMML cases with altered RAS and PRC2 pathways. Finally, the association between JMML outcome and mutational profile suggests a dose-dependent effect for RAS pathway activation, distinguishing very aggressive JMML rapidly progressing to acute myeloid leukemia