148 resultados para Schmidt, Lars-Henrik

em Université de Lausanne, Switzerland


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The predominant clinical and radiological features of Langerhans' cell histiocytosis (LCH) in children are due to osseous involvement. Extra-osseous disease is far less common, occurring in association with bone disease or in isolation; nearly all anatomical sites may be affected and in very various combinations. The following article is based on a multicentre review of 31 children with extra-osseous LCH. The objective is to summarise the diverse possibilities of organ involvement. The radiological manifestations using different imaging modalities are rarely pathognomonic on their own. Nevertheless, familiarity with the imaging findings, especially in children with systemic disease, may be essential for early diagnosis.

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Purpose: Emergency room reading performances have been a point of interest in recent studies comparing radiologists to other physician groups. Our objective was to evaluate and compare the reading performances of radiologists and surgeons in an emergency room setting of non-traumatic abdominal CTs. Methods and materials: A total of ten readers representing four groups participated in this study: three senior radiologists and visceral surgeons, respectively, and two junior radiologists and surgeons, respectively. Each observer blindedly evaluated a total of 150 multi-slice acute abdominal CTs. CTs were chosen representing established proportions of acute abdomen pathologies in a Level I trauma centre from 2003 to 2005. Each answer was interpretated as right or wrong regarding pathology location, diagnosis and need for operation. Gold standard was the intraoperative result, and the clinical patient follow-up for non-operated patients. Significance was assumed at a p <.05 level. Results: Senior radiologists had a mean score of 2.38 ± 1.14, junior radiologists a score of 2.34 ± 1.14, whereas senior surgeons scored 2.07 ± 1.30 and junior surgeons 1.62 ± 1.42. No significant difference was found between the two radiologist groups, but results were significantly better for senior surgeons as compared to junior surgeons and better for the two radiologist groups as compared to each of the surgeon groups (all p <.05). Conclusion: Abdominal CT reading in an acute abdomen setting should continue to rely on an evaluation by a radiologist, whether senior or junior. Satisfying reading results can be achieved by senior visceral surgeons, but junior surgeons need more experience for a good reading performance.

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Tetrasomy, pentasomy, and hexasomy 8 (polysomy 8) are relatively rare compared to trisomy 8. Here we report on a series of 12 patients with acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), or myeloproliferative disorder (MPD) associated with polysomy 8 as detected by conventional cytogenetics and fluorescence in situ hybridization (FISH). In an attempt to better characterize the clinical and hematological profile of this cytogenetic entity, our data were combined with those of 105 published patients. Tetrasomy 8 was the most common presentation of polysomy 8. In 60.7% of patients, polysomy 8 occurred as part of complex changes (16.2% with 11q23 rearrangements). No cryptic MLL rearrangements were found in cases in which polysomy 8 was the only karyotypic change. Our study demonstrates the existence of a polysomy 8 syndrome, which represents a subtype of AML, MDS, and MPD characterized by a high incidence of secondary diseases, myelomonocytic or monocytic involvement in AML and poor overall survival (6 months). Age significantly reduced median survival, but associated cytogenetic abnormalities did not modify it. Cytogenetic results further demonstrate an in vitro preferential growth of the cells with a high level of aneuploidy suggesting a selective advantage for polysomy 8 cells.

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PURPOSE: To report the diffusion-weighted MRI findings in alveolar echinococcosis (AE) of the liver and evaluate the potential role of apparent diffusion coefficients (ADCs) in the characterisation of lesions. MATERIALS AND METHODS: We retrospectively included 22 patients with 63 AE liver lesions (≥1cm), examined with 3-T liver MRI, including a free-breathing diffusion-weighted single-shot echo-planar imaging sequence (b-values=50, 300 and 600s/mm(2)). Two radiologists jointly assessed the following lesion features: size, location, presence of cystic and/or solid components (according to Kodama's classification system), relative contrast enhancement, and calcifications (on CT). The ADCtotal, ADCmin and ADCmax were measured in each lesion and the surrounding liver parenchyma. RESULTS: Three type 1, 19 type 2, 17 type 3, three type 4 and 21 type 5 lesions were identified. The mean (±SD) ADCtotal, ADCmin and ADCmax for all lesions were 1.73±0.50, 0.76±0.38 and 2.63±0.76×10(-3)mm(2)/s, respectively. The mean ADCtotal for type 1, type 2, type 3, type 4 and type 5 lesions were 1.97±1.01, 1.76±0.53, 1.73±0.41, 1.15±0.42 and 1.76±0.44×10(-3)mm(2)/s, respectively. No significant differences were found between the five lesion types, except for type 4 (p=0.0363). There was a significant correlation between the presence of a solid component and low ADCmin (r=0.39, p=0.0016), whereas an inverse correlation was found between the relative contrast enhancement and ADCtotal (r=-0.34, p=0.0072). CONCLUSION: The ADCs of AE lesions are relatively low compared to other cystic liver lesions, which may help in the differential diagnosis. Although ADCs are of little use to distinguish between the five lesion types, their low value reflects the underlying solid component.

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Understanding the genetic underpinnings of adaptive change is a fundamental but largely unresolved problem in evolutionary biology. Drosophila melanogaster, an ancestrally tropical insect that has spread to temperate regions and become cosmopolitan, offers a powerful opportunity for identifying the molecular polymorphisms underlying clinal adaptation. Here, we use genome-wide next-generation sequencing of DNA pools ('pool-seq') from three populations collected along the North American east coast to examine patterns of latitudinal differentiation. Comparing the genomes of these populations is particularly interesting since they exhibit clinal variation in a number of important life history traits. We find extensive latitudinal differentiation, with many of the most strongly differentiated genes involved in major functional pathways such as the insulin/TOR, ecdysone, torso, EGFR, TGFβ/BMP, JAK/STAT, immunity and circadian rhythm pathways. We observe particularly strong differentiation on chromosome 3R, especially within the cosmopolitan inversion In(3R)Payne, which contains a large number of clinally varying genes. While much of the differentiation might be driven by clinal differences in the frequency of In(3R)P, we also identify genes that are likely independent of this inversion. Our results provide genome-wide evidence consistent with pervasive spatially variable selection acting on numerous loci and pathways along the well-known North American cline, with many candidates implicated in life history regulation and exhibiting parallel differentiation along the previously investigated Australian cline.

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La transmission de l'alphabet aux Grecs est un sujet encore très débattu. Les plus anciennes inscriptions alphabétiques grecques datent du VIIIe s. av. J.-C. et une majorité d'entre elles a été trouvée dans des sites eubéens. Une trentaine a été mise au jour à Erétrie, dont 26 proviennent du sanctuaire d'Apollon Daphnéphoros. Ces inscriptions, pour la plupart inscrites sur des coupes à boire, contribuaient à personnaliser des offrandes ou à leur donner de la valeur. Le sanctuaire et les pratiques rituelles qui s'y déroulaient offraient un cadre propice à l'usage précoce de l'écriture, au moment où la polis grecque se constituait.

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Purpose: 1. To assess the diagnostic value of MDCT for acute colitis of various origin confirmed by colonoscopy and histology. 2. To evaluate the accuracy of MDCT of making the correct differential diagnosis. Methods and materials: The electronic hospital database from January 2006 to August 2008 revealed 351 patients with acute colitis of any origin wdetected by colonoscopy. In 85 out of these patients MDCT had been simultaneously performed (delay 3.1 days). Two radiologists jointly reviewed their corresponding CT features without knowledge of pathology and correlated them with the final histological diagnosis. Results: Eighty patients were finally included (46 women, mean age 63.4). Colitis was of ischemic (n = 35, 44%) or infectious (n = 15, 19%) origin. 18 patients (23%) had acute ulcerative colitis or Crohn's disease, in 10 patients (12%) another inflammatory cause and in two patients (2%) post radiation colitis was proven. MDCT was positive in 63 patients (78.9%). In 11 out of the 17 negative MDCT, the examination had been performed without large bowel distention. Ischemic colitis was responsible for 47.1% of the negative MDCT. Correct differential diagnosis was made in 32 (50.7%) out of the 63 positive MDCT. Among the different etiologies, the ischemic colitis was the most often misdiagnosed cause (n = 17, 58.6%). Conclusion: Large bowel distension is mandatory for reliable MDCT detection of acute colitis of any origin. Among the different aetiologies the ischemic cause is the most often associated with false negative MDCT findings and, in case of positive features, the most difficult to recognize as such.

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BACKGROUND: The correlation between noninvasive markers with endoscopic activity according to the modified Baron Index in patients with ulcerative colitis (UC) is unknown. We aimed to evaluate the correlation between endoscopic activity and fecal calprotectin (FC), C-reactive protein (CRP), hemoglobin, platelets, blood leukocytes, and the Lichtiger Index (clinical score). METHODS: UC patients undergoing complete colonoscopy were prospectively enrolled and scored clinically and endoscopically. Samples from feces and blood were analyzed in UC patients and controls. RESULTS: We enrolled 228 UC patients and 52 healthy controls. Endoscopic disease activity correlated best with FC (Spearman's rank correlation coefficient r = 0.821), followed by the Lichtiger Index (r = 0.682), CRP (r = 0.556), platelets (r = 0.488), blood leukocytes (r = 0.401), and hemoglobin (r = -0.388). FC was the only marker that could discriminate between different grades of endoscopic activity (grade 0, 16 [10-30] μg/g; grade 1, 35 [25-48] μg/g; grade 2, 102 [44-159] μg/g; grade 3, 235 [176-319] μg/g; grade 4, 611 [406-868] μg/g; P < 0.001 for discriminating the different grades). FC with a cutoff of 57 μg/g had a sensitivity of 91% and a specificity of 90% to detect endoscopically active disease (modified Baron Index ≥ 2). CONCLUSIONS: FC correlated better with endoscopic disease activity than clinical activity, CRP, platelets, hemoglobin, and blood leukocytes. The strong correlation with endoscopic disease activity suggests that FC represents a useful biomarker for noninvasive monitoring of disease activity in UC patients.

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The fundamental processes of membrane fission and fusion determine size and copy numbers of intracellular organelles. Although SNARE proteins and tethering complexes mediate intracellular membrane fusion, fission requires the presence of dynamin or dynamin-related proteins. Here we study these reactions in native yeast vacuoles and find that the yeast dynamin homologue Vps1 is not only an essential part of the fission machinery, but also controls membrane fusion by generating an active Qa SNARE-tethering complex pool, which is essential for trans-SNARE formation. Our findings provide new insight into the role of dynamins in membrane fusion by directly acting on SNARE proteins.