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Karyotype complexity has major prognostic value in many malignancies. There is no consensus on the definition of a complex karyotype, and the prognostic impact of karyotype complexity differs from one disease to another. Due to the importance of the complex karyotype in the prognosis and treatment of several hematological diseases, the Francophone Group of Hematological Cytogenetics (Groupe Francophone de Cytogénétique Hématologique, GFCH) has developed an up-to-date, practical document for helping cytogeneticists to assess complex karyotypes in these hematological disorders. The evaluation of karyotype complexity is challenging, and it would be useful to have a consensus method for counting the number of chromosomal abnormalities (CAs). Although it is not possible to establish a single prognostic threshold for the number of CAs in all malignancies, a specific consensus prognostic cut-off must be defined for each individual disease. In order to standardize current cytogenetic practices and apply a single denomination, we suggest defining a low complex karyotype as having 3 CAs, an intermediate complex karyotype as having 4 CAs, and a highly complex karyotype as having 5 or more CAs.

Pediatric acute myeloid leukemia (AML) is a rare disease whose prognosis is highly variable according to factors such as chromosomal abnormalities. Recurrent genomic rearrangements are detected in half of pediatric AML by karyotype. NUcleoPorin 98 ( NUP98 ) gene is rearranged with 31 different fusion partner genes. These rearrangements are frequently undetected by conventional cytogenetics, as the NUP98 gene is located at the end of the chromosome 11 short arm (11p15). By screening a series of 574 pediatric AML, we detected a NUP98 rearrangement in 22 cases (3.8%), a frequency similar to CBFB-MYH11 fusion gene (4.0%). The most frequent NUP98 fusion gene partner is NSD1 . These cases are homogeneous regarding their biological and clinical characteristics, and associated with bad prognosis only improved by bone marrow transplantation. We detailed the biological characteristics of these AML by exome sequencing which demonstrated few recurrent mutations ( FLT3 ITD, WT1 , CEBPA , NBPF14 , BCR and ODF1 ). The analysis of the clonal structure in these cases suggests that the mutation order in the NUP98 -rearranged pediatric AML begins with the NUP98 rearrangement leading to epigenetic dysregulations then followed by mutations of critical hematopoietic transcription factors and finally, activation of the FLT3 signaling pathway.

Background:VEXAS syndrome is an acquired monogenic auto-inflammatory disease linked to a mutation in the UBA1 gene discovered in 2020. This disease, which has a poor prognosis in the absence of treatment, combines systemic auto-inflammatory disorders, particularly of the skin and joints, with dysmyelopoiesis. Early diagnosis using molecular biology is important, as certain therapies, such as bone marrow allografts, are curative.Objectives:Interrogate the Bordeaux University Hospital’s clinical data warehouse (CDW) via the i2b2 platform to detect VEXAS syndrome in at least one patient not tested for the UBA1 mutation despite a compatible clinical history according to our eligibility criteria.Methods:Thirty thousand two hundred and ninety-seven files were selected from the CDW of the Bordeaux University Hospital via the i2b2 platform, enabling the extraction of files of interest by recognition of criteria previously defined from the literature. These 30,297 files were prioritized according to their number of criteria. The first 240 files were reviewed on the SmartCRF application to determine those actually eligible for UBA1 mutation testing, after elimination of differential diagnoses.Results:Of the 240 files reviewed, 9 were those of VEXAS patients already diagnosed, and 49 were selected as eligible for UBA1 mutation testing. Only 15 patients could be tested on preserved genetic material, and 2 ended up carrying a UBA1 mutation.Conclusion:The use of the i2b2 platform and SmartCRF to screen for VEXAS syndrome enabled the detection of 2 undiagnosed VEXAS. This strategy, which still needs to be improved, looks promising, particularly for detecting VEXAS that began before 2020.REFERENCES:[1] Beck DB, Ferrada MA, Sikora KA, Ombrello AK, Collins JC, Pei W, et al. Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease. N Engl J Med. 31 déc 2020;383(27):2628-38.[2] Beck DB, Bodian DL, Shah V, Mirshahi UL, Kim J, Ding Y, et al. Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population. JAMA. 24 janv 2023;329(4):318.[3] Zhang Y, Dong X, Wang H. VEXAS Syndrome—Review. Glob Med Genet. Sept 2023;10(03):133-43.[4] Garcelon N, Neuraz A, Benoit V, Salomon R, Kracker S, Suarez F, et al. Finding patients using similarity measures in a rare diseases-oriented clinical data warehouse: Dr. Warehouse and the needle in the needle stack. Journal of Biomedical Informatics. sept 2017;73:51-61.[5] HAS rapport_entrepots_donnes_sante_hospitaliers, 2022.[6] Pasco J, Campillo-Gimenez B, Guillon L, Cuggia M. Pré-screening et études de faisabilité: l’apport des entrepôts de données de cliniques. Revue d’Épidémiologie et de Santé Publique. Mars 2019;67:S96.Acknowledgements:NIL.Disclosure of Interests:None declared.

Autism spectrum disorder (ASD) is characterized by atypical visual perception both in the social and nonsocial domain. In order to measure a reliable visual response, visual evoked potentials were recorded during a passive pattern-reversal stimulation in adolescents and adults with and without ASD. While the present results show the same age-related changes in both autistic and non-autistic groups, they reveal a smaller P100 amplitude in the ASD group compared to controls. These results confirm that early visual responses are affected in ASD even with a simple, non social and passive stimulation and suggest that they should be considered in order to better understand higher-level processes.

Conclusions Following previous studies with MEG at the sensor level and invasive intracranial EEG, this study localizes auditory gamma band enhancements at the source level with noninvasive MEG.

What become of human beings in complex technical environments? The French Sociology of Work inspired by Pierre Naville is a step ahead compared with 'distributed cognition', 'situated action' or 'regime of familiarity'. By studying how activities related to the supervision of phone streams are distributed, the contributions of this tradition to an ecological approach are documented, in particular the switch from 'artefact' to 'automaton'. In the world of work, where technical arrangements are not mainly designed as objects to be used, it must be delved into the depths of these arrangements in order to study distributed activities. By broadening an 'ecology of activities' to cover automatisms, one better understands how workers try to find bearings in an environment heavily equipped with electronic devices. This analysis can thus reintegrate a vast range of activities, including the circulation of workers to 'find their way,' or work as an inquiry. All rights reserved, Elsevier

A vivid perception of a moving human can be evoked when viewing a few point-lights on the joints of an invisible walker. This special visual ability for biological motion perception has been found to involve the posterior superior temporal sulcus (STSp). However, in everyday life, human motion can also be recognized using acoustic cues. In the present study, we investigated the neural substrate of human motion perception when listening to footsteps, by means of a sparse sampling functional MRI design. We first showed an auditory attentional network that shares frontal and parietal areas previously found in visual attention paradigms. Second, an activation was observed in the auditory cortex (Heschl's gyrus and planum temporale), likely to be related to low-level sound processing. Most strikingly, another activation was evidenced in a STSp region overlapping the temporal biological motion area previously reported using visual input. We thus propose that a part of the STSp region might be a supramodal area involved in human motion recognition, irrespective of the sensory modality input.