Prise en charge de la chute à domicile de la personne âgée par le médecin généraliste (Étude qualitative auprès de 20 praticiens)

La chute du sujet âgé est un réal problème de santé publique dans la population gériatrique de part sa fréquence et sa morbi-mortalité. Des recommandations de prévention de la chute ont vu le jour ces dernières années notamment les recommandations HAS. Le médecin traitant, par son mode d exercice, est la cible de cette prévention. L objectif de notre étude est donc d évaluer l attitude du médecin traitant lors d une chute sans gravité à domicile d une personne âgée et de commenter la faisabilité des recommandations en pratique courante. Matériel et méthodes : Nous avons mené une étude transversale observationnelle qualitative réalisée de décembre 2011 à mars 2012, basée sur des entretiens semi dirigés chez 20 médecins généralistes. Les données recueillies ont concerné, dans un premier temps, l état civil et la prise en charge d une chute au domicile et, dans un deuxième temps, l avis sur la faisabilité des recommandations HAS envoyées. Résultats : Pour la première partie des entretiens, la majorité des médecins généralistes interrogés prennent en charge la chute sans gravité de la personne âgée à domicile. Le recours aux urgences et l avis spécialisé sont cités par l échantillon. Ils évoquent la recherche de facteurs intrinsèques et/ou extrinsèques, des anomalies cliniques et proposent souvent des adaptations de l environnement. Pour la seconde partie, les recommandations HAS leur semblent utiles mais difficilement applicables en pratique courante en raison du caractère chronophage, du grand nombre d items et d un manque de hiérarchisation. Conclusion : La sensibilité des médecins traitants de l étude au dépistage des chutes semble bonne mais la hiérarchisation et la diminution du nombre d items permettraient une meilleure adhésion.ROUEN-BU Médecine-Pharmacie (765402102) / SudocSudocFranceF

À propos d'une famille atypique d'adrénoleucodystrophie liée à l'X

Résumé en français : L'adrénoleucodystrophie récessive liée à l'X (X-ALD) est la maladie peroxysomale la plus commune, conséquence d'une mutation du gène ABCDI (Xq28). Elle est liée à une accumulation d'acides gras à très longue chaîne (AGTLC) due à un défaut de la bêta-oxydation des AGTLC dans les peroxysomes par carence d'une protéine transmembranaire appelée ALDP. L'incidence est de 1 pour 17 000 naissances, incluant les hémizygotes et les femmes hétérozygotes. Cette pathologie se manifeste par une démyélinisation progressive du système nerveux central plus ou moins associée à une maladie d'Addison. Cette maladie comporte une grande diversité phénotypique y compris intra-familiale associant des formes cérébrales progressives et graves de l'enfant à des formes médullaires lentement progressives de l'adulte dite adrénomyéloneuropathie (AMN). La pathogénie est complexe et la physiopathologie de l'atteinte reste méconnue. Notre propositus âgé de 38 ans présentait des troubles psychiatriques inauguraux à type d'apathie, d'euphorie, troubles de la personnalité. L'évolution était marquée par un syndrome démentiel et un état végétatif. L'examen clinique, l'analyse biochimique et moléculaire confirmèrent le diagnostic. Nous décrivons une famille d'X-ALD qui illustre la diversité phénotypique. Il n'y a pas de corrélation génotype et phénotype ce qui suggère l'intervention de facteurs environnementaux ou facteurs modificateurs de gènes. Le conseil génétique est indispensable pour identifier les femmes conductrices et les garçons encore asymptomatiques sur le plan neurologique d'autant qu'un traitement ne peut être proposé qu'au stade asymptomatique. La seule thérapie ayant démontré une efficacité certaine est la greffe allogénique de moelle osseuse.Résumé en anglais :The X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disorder caused by mutations of the ABCDl gene located at Xq28. The incidence is 1/17 000 births, including hemizygotes and heterozygotes women. This gene encodes for the adrenoleukodystrophy protein (ALDP), an adenosine triphosphate (ATP) binding cassette transporter, subfamily D, member 1 in the peroxisomal membrane. Phenotype is characterized by adrenal insufficiency and progressive demyelinisation of the central nervous system. This neurological disease ranges from the childhood cerebral ALD characterized by rapidly progressive demyelinisation that leads to vegetative stage or death within 2-5 years to the adult milder adrenomyeloneuropathy characterized by progressive paraparesis. The ALDP defects lead to accumulation of satured very-long-chain fatty acids (VLCFA) in the serum and tissues, due to reduced P-oxidation of VLCFA in peroxisomes. The exact role of ALDP in the metabolism of VLCFA is still not understood. Our propositus was 38-year-old and presented a gradual development of psychiatric symptomatology. Since one year, behavioural changes such as fluctuation of apathy, euphoria and personality disturbance progress. Evolution was marked by dementia and vegetative status. The clinical, biochemical and genetic examination confirmed the diagnosis. We described his family, which illustrated diversity of phenotype. No genotype phenotype correlation has been found, which suggests modifier genes or environmental factors. Diagnosis is very important because of genetic counseling and therapeutic can be performed: allogenic bone-barrow transplantation and the first autologous bone-marrow transplants genetically corrected ex vivo.ROUEN-BU Médecine-Pharmacie (765402102) / SudocSudocFranceF

[An aphasic reader]

International audienceNonsemantic reading is the capacity to read without understanding by impairment of the lexical-semantic pathway. We report the case of a female steno secretary with nonsemantic reading capacity associated with severe aphasia caused by a left hemisphere ischemic stroke in Broca's area. Arguments in favor of a right hemisphere contribution to the reading ability are presented

Identification of distinct nanoparticles and subsets of extracellular vesicles by asymmetric flow field-flow fractionation

The heterogeneity of exosomal populations has hindered our understanding of their biogenesis, molecular composition, biodistribution and functions. By employing asymmetric flow field-flow fractionation (AF4), we identified two exosome subpopulations (large exosome vesicles, Exo-L, 90-120 nm; small exosome vesicles, Exo-S, 60-80 nm) and discovered an abundant population of non-membranous nanoparticles termed 'exomeres' (~35 nm). Exomere proteomic profiling revealed an enrichment in metabolic enzymes and hypoxia, microtubule and coagulation proteins as well as specific pathways, such as glycolysis and mTOR signalling. Exo-S and Exo-L contained proteins involved in endosomal function and secretion pathways, and mitotic spindle and IL-2/STAT5 signalling pathways, respectively. Exo-S, Exo-L and exomeres each had unique N-glycosylation, protein, lipid, DNA and RNA profiles and biophysical properties. These three nanoparticle subsets demonstrated diverse organ biodistribution patterns, suggesting distinct biological functions. This study demonstrates that AF4 can serve as an improved analytical tool for isolating extracellular vesicles and addressing the complexities of heterogeneous nanoparticle subpopulations.The authors also acknowledge the Genomics Resource Core facility (WCM) for their high-quality service. The authors thank C. Ghajar and J. Weiss for feedback on the manuscript and members of the Lyden laboratory for discussions. Our study was supported by the National Cancer Institute (U01-CA169538 to D.L.), the National Institutes of Health (NIH; R01-CA169416 to D.L. and H.P.; R01-CA218513 to D.L. and H.Z.), the US Department of Defense (W81XWH-13-10249 to D.L.), W81XWH-13-1-0425 (to D.L., J.Br.), the Sohn Conference Foundation (D.L., I.M., H.P. and H.Z.), the Children’s Cancer and Blood Foundation (D.L.), The Manning Foundation (A.H. and D.L.), The Hartwell Foundation (D.L.), The Nancy C. and Daniel P. Paduano Foundation (D.L.), The Starr Cancer Consortium (H.P. and D.L.; D.L. and H.Z.), the Pediatric Oncology Experimental Therapeutic Investigator Consortium (POETIC; D.L.), the James Paduano Foundation (D.L. and H.P.), the NIH/WCM CTSC (NIH/NCATS: UL1TR00457 to H.M. and H.Z.; UL1TR002384 to D.L., H.M. and H.Z.), the Malcolm Hewitt Wiener Foundation (D.L.), the Champalimaud Foundation (D.L.), the Thompson Family Foundation (D.L., R.S.), U01-CA210240 (D.L.), the Beth Tortolani Foundation (J.Br.), the Charles and Marjorie Holloway Foundation (J.Br.), the Sussman Family Fund (J.Br.), the Lerner Foundation (J.Br.), the Breast Cancer Alliance (J.Br.), the Manhasset Women’s Coalition Against Breast Cancer (J.Br.), the National Institute on Minority Health and Health Disparities (NIMHD) of the NIH (MD007599 to H.M.), NIH/NCATS (UL1TR00457 to H.M.). C.R., A.M., D.F., A.F., A.S. and H.O. acknowledge FEDER (Fundo Europeu de Desenvolvimento Regional funds through COMPETE 2020) POCI, Portugal 2020 (NORTE-01-0145-FEDER-000029) and FCT – Fundação para a Ciência e a Tecnologia in the framework of the project ‘Institute for Research and Innovation in Health Sciences’ (POCI-01-0145-FEDER-007274) and the FCT project POCI-01-0145-FEDER-016585 (PTDC/BBB-EBI/0567/2014). The authors acknowledge FCT for grants to A.M. (SFRH/BPD/75871/2011) and A.F. (SFRH/BPD/111048/2015). D.F. acknowledges FCT (SFRH/BD/110636/2015), the BiotechHealth PhD Programme (PD/0016/2012) and the American Portuguese Biomedical Research Fund.S

Minimal information for studies of extracellular vesicles (MISEV2023): From basic to advanced approaches

Extracellular vesicles (EVs), through their complex cargo, can reflect the state of their cell of origin and change the functions and phenotypes of other cells. These features indicate strong biomarker and therapeutic potential and have generated broad interest, as evidenced by the steady year-on-year increase in the numbers of scientific publications about EVs. Important advances have been made in EV metrology and in understanding and applying EV biology. However, hurdles remain to realising the potential of EVs in domains ranging from basic biology to clinical applications due to challenges in EV nomenclature, separation from non-vesicular extracellular particles, characterisation and functional studies. To address the challenges and opportunities in this rapidly evolving field, the International Society for Extracellular Vesicles (ISEV) updates its ‘Minimal Information for Studies of Extracellular Vesicles’, which was first published in 2014 and then in 2018 as MISEV2014 and MISEV2018, respectively. The goal of the current document, MISEV2023, is to provide researchers with an updated snapshot of available approaches and their advantages and limitations for production, separation and characterisation of EVs from multiple sources, including cell culture, body fluids and solid tissues. In addition to presenting the latest state of the art in basic principles of EV research, this document also covers advanced techniques and approaches that are currently expanding the boundaries of the field. MISEV2023 also includes new sections on EV release and uptake and a brief discussion of in vivo approaches to study EVs. Compiling feedback from ISEV expert task forces and more than 1000 researchers, this document conveys the current state of EV research to facilitate robust scientific discoveries and move the field forward even more rapidly