Le lipomodelage (LPM) est une technique de reconstruction mammaire consistant à injecter de la graisse, prélevée au préalable sur la patiente, pour la réinjecter dans l'aire mammaire après mastectomie totale. Cependant, du fait des facteurs de croissance contenus dans la graisse, cette technique a pu être suspectée d'augmenter le risque de récidive. Notre objectif était de décrire les pratiques françaises de LPM chez les femmes de moins de 45 ans, à partir de la base du système national des données de santé français (SNDS), ainsi que le risque de récidive et de décès associé à cette technique. Toutes les femmes françaises entre 18 et 45 ans du SNDS opérées d'un cancer du sein (CS) précoce entre le 1er janvier 2010 et le 31 décembre 2018 ont été inclues. Afin de s'affranchir du biais d'immortalité, seules les patientes ayant eu une reconstruction mammaire ont été sélectionnées. Nous avons comparé les patientes ayant eu et n'ayant pas eu de LPM pour leur reconstruction. L'impact du LPM sur la survie sans récidive (récidive locale, à distance ou décès) a été analysée dans un modèle de Cox pondéré par un score de propension, et ajusté sur les variables de confusion résiduelles. Sur la période d'inclusion, 13 045 patientes de moins de 45 ans ont eu une reconstruction pour un CS de stade précoce dans la base du SNDS dont 7268 (56 %) avec LPM et 5777 (44 %) sans. Le LPM était exclusif chez 1468 patientes (20 %) et 82 % des patientes avaient leur première séance plus d'un an après la chirurgie. Les patientes ayant eu un LPM avaient plus fréquemment des tumeurs luminales (55 % versus 48) et moins fréquemment de carcinomes in situ (15 % versus 24 %, p<0,001), avaient plus fréquemment reçu de la chimiothérapie (71 % versus 63 %, p<0,001) et de la radiothérapie (70 % versus 58 %, p<0,001). Le LPM était moins fréquemment réalisé dans les structures privées (33 % versus 36 %, p'0,03). Il n'y avait pas de différence en termes d'âge ou de revenu. Après pondération par un score de propension, le LPM semblait protecteur (HR 0,60 95%CI 0,54-0,66, p<0,001)., sans interaction avec le sous-type histologique. Malgré la prise en compte des facteurs de confusion potentiels, il existe un effet protecteur non expliqué DU LPM. L'effet de la reconstruction elle-même et de la sélection implicite des patientes par les chirurgiens devra être investigué.
Huntington's disease (HD) is characterised by both regional and generalised neuronal cell loss in the brain. Investigating functional brain connectivity patterns in rest in HD has the potential to broaden the understanding of brain functionality in relation to disease progression. This study aims to establish whether brain connectivity during rest is different in premanifest and manifest HD as compared to controls. At the Leiden University Medical Centre study site of the TRACK-HD study, 20 early HD patients (disease stages 1 and 2), 28 premanifest gene carriers and 28 healthy controls underwent 3 T MRI scanning. Standard and high-resolution T1-weighted images and a resting state fMRI scan were acquired. Using FSL, group differences in resting state connectivity were examined for eight networks of interest using a dual regression method. With a voxelwise correction for localised atrophy, group differences in functional connectivity were examined. Brain connectivity of the left middle frontal and pre-central gyrus, and right post central gyrus with the medial visual network was reduced in premanifest and manifest HD as compared to controls (0.05 > p > 0.0001). In manifest HD connectivity of numerous widespread brain regions with the default mode network and the executive control network were reduced (0.05 > p > 0.0001). Brain regions that show reduced intrinsic functional connectivity are present in premanifest gene carriers and to a much larger extent in manifest HD patients. These differences are present even when the potential influence of atrophy is taken into account. Resting state fMRI could potentially be used for early disease detection in the premanifest phase of HD and for monitoring of disease modifying compounds.
The authors report the inter-rater reliability and factor structure of the Short Problem Behaviors Assessment (PBA-s), a semistructured interview to measure severity and frequency of behavioral problems in Huntington's disease. Video recordings of 410 PBA-s interviews were rescored by an independent rater, and Cohen's kappa calculated to assess inter-rater reliability. The mean kappa was 0.74 for severity and 0.76 for frequency scores, whereas weighted kappa (allowing scores to differ by 1 point) was 0.94 for severity and 0.92 for frequency scores. The results of factor analysis were consistent with previous studies using other measures. The authors conclude that the PBA-s is a reliable measure.
Earlier research has found cross-sectional attentional control deficits in manifest Huntington's disease (HD) using neuropsychological testing combined with simultaneous P300 registration. In the current pilot-study, we investigate attentional control in pre-manifest and manifest HD over a 3-year follow-up period.Five manifest HD (MHD), 9 pre-manifest HD (PMHD), and 12 control subjects were included. Sustained Attention to Response task (SART) and P300 registration resulted in number of errors, reaction time (RT), and P300 amplitude and latency. RT change patterns surrounding No-go trials were also investigated. Within-subject differences were tested using paired-samples t-tests and between-group results with ANCOVA on delta scores (follow-up--baseline scores).Manifest HD made more errors and were slower than controls and PMHD. Longitudinally, MHD showed an overall RT increase and a specific slowing on trials preceding a correct No-go trial (within-group effects). The latter was also seen in PMHD. P300 latency prolongation was found for controls on No-go and for MHD on Go trials. On specific trials surrounding both correct and incorrect No-go trials, MHD became significantly slower over time than controls and PMHD (between-group effects).Over 3-years, MHD subjects became slower on the SART and showed a prolongation of P300 latency on specific SART trials. Specific slowing of performance over time was also seen in PMHD, suggestive of compensatory mechanisms in this group.
Fazit Mit der voxelbasierten DTI-Analyse konnte gezeigt werden, dass kognitive und motorische Defizite sowie Verhaltensauffälligkeiten von Patienten mit früher Huntington-Erkrankung mit spezifischen regionalen kortikostriatalen degenerativen Veränderungen assoziiert sind. Dies weist nach Meinung der Autoren darauf hin, dass die klinische Dysfunktion durch kortikale und subkortikale (Basalganglien) Schädigungen verursacht wird. Während Bewegungsstörungen vor allem auf der striatalen Degeneration beruhen, erklärt die kortikale Dysfunktion in spezifischen Arealen Unterschiede in der übrigen Symptomatik.
Duchenne muscular dystrophy (DMD) is characterized by progressive muscle weakness caused by DMD gene mutations leading to absence of the full-length dystrophin protein in muscle. Multiple dystrophin isoforms are expressed in brain, but little is known about their function. DMD is associated with specific learning and behavioral disabilities that are more prominent in patients with mutations in the distal part of the DMD gene, predicted to affect expression of shorter protein isoforms. We used quantitative magnetic resonance (MR) imaging to study brain microstructure in DMD.T1-weighted and diffusion tensor images were obtained on a 3T MR scanner from 30 patients and 22 age-matched controls (age = 8-18 years). All subjects underwent neuropsychological examination. Group comparisons on tissue volume and diffusion tensor imaging parameters were made between DMD patients and controls, and between 2 DMD subgroups that were classified according to predicted Dp140 isoform expression (DMD_Dp140(+) and DMD_Dp140(-) ).DMD patients had smaller total brain volume, smaller gray matter volume, lower white matter fractional anisotropy, and higher white matter mean and radial diffusivity than healthy controls. DMD patients also performed worse on neuropsychological examination. Subgroup analyses showed that DMD_Dp140(-) subjects contributed most to the gray matter volume differences and performed worse on information processing.Both gray and white matter is affected in boys with DMD at a whole brain level. Differences between the DMD_Dp140(-) subgroup and controls indicate an important role for the Dp140 dystrophin isoform in cerebral development.
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