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981.
Simone Hettmer Geoffroy Andrieux Jochen Hochrein Philipp Kurz Jochen Rössler Silke Lassmann Martin Werner Nikolas von Bubnoff Christoph Peters Ewa Koscielniak Monika Sparber‐Sauer Charlotte Niemeyer Thomas Mentzel Hauke Busch Melanie Boerries 《Pediatric blood & cancer》2017,64(12)
Epithelioid hemangioendothelioma (EHE) is a rare, vascular sarcoma. Visceral forms arise in the liver/ lungs. We review the clinical and molecular phenotype of pediatric visceral EHE based on the case of a 9‐year‐old male child with EHE of the liver/lungs. His tumor expressed the EHE‐specific fusion oncogene WWTR1‐CAMTA1. Molecular characterization revealed a low somatic mutation rate and activated interferon signaling, angiogenesis regulation, and blood vessel remodeling. After polychemotherapy and resection of lung tumors, residual disease remained stable on oral lenalidomide. Literature review identified another 24 children with EHE of the liver/lungs. Most presented with multifocal, systemic disease. Only those who underwent complete resection achieved complete remission. Four children experienced rapid progression and died. In six children, disease remained stable for years without therapy. Two patients died from progressive EHE 21 and 24 years after first diagnosis. Natural evolution of pediatric visceral EHE is variable, and long‐term prognosis remains unclear. 相似文献
982.
Karin Kucian Simone Schwizer Ashkenazi Jürgen Hänggi Stephanie Rotzer Lutz Jäncke Ernst Martin Michael von Aster 《Brain structure & function》2014,219(5):1721-1733
Numerical understanding is important for everyday life. For children with developmental dyscalculia (DD), numbers and magnitudes present profound problems which are thought to be based upon neuronal impairments of key regions for numerical understanding. The aim of the present study was to investigate possible differences in white matter fibre integrity between children with DD and controls using diffusion tensor imaging. White matter integrity and behavioural measures were evaluated in 15 children with developmental dyscalculia aged around 10 years and 15 matched controls. The main finding, obtained by a whole brain group comparison, revealed reduced fractional anisotropy in the superior longitudinal fasciculus in children with developmental dyscalculia. In addition, a region of interest analysis exhibited prominent deficits in fibres of the superior longitudinal fasciculus adjacent to the intraparietal sulcus, which is thought to be the core region for number processing. To conclude, our results outline deficient fibre projection between parietal, temporal and frontal regions in children with developmental dyscalculia, and therefore raise the question of whether dyscalculia can be seen as a dysconnection syndrome. Since the superior longitudinal fasciculus is involved in the integration and control of distributed brain processes, the present results highlight the importance of considering broader domain-general mechanisms in the diagnosis and therapy of dyscalculia. 相似文献
983.
984.
985.
Marc Rosenbaum Virginia Andreani Tanya Kapoor Simone Herp Henrik Flach Marlena Duchniewicz Rudolf Grosschedl 《Genes & development》2014,28(11):1165-1178
MZB1 (pERp1) is a B-cell-specific and endoplasmic reticulum (ER)-localized protein implicated in antibody secretion and integrin-mediated cell adhesion. Here, we examine the role of MZB1 in vivo by conditional gene inactivation in the mouse germline and at different stages of B lymphopoiesis. Deletion of MZB1 impairs humoral immune responses and antibody secretion in plasma cells that naturally undergo ER stress. In addition, we found that experimental induction of ER stress by tunicamycin injections in mice results in a block of pro-B-cell to pre-B-cell differentiation specifically in Mzb1−/− mice. A similar developmental block was observed in Mzb1fl/flmb1Cre mice, whereby a Cre recombinase-induced genotoxic stress unmasks a role for MZB1 in the surface expression of immunoglobulin µ heavy chains (µHCs). MZB1 associates directly with the substrate-specific chaperone GRP94 (also called HSP90B1 or gp96) in an ATP-sensitive manner and is required for the interaction of GRP94 with µHCs upon ER stress. Thus, MZB1 seems to act as a substrate-specific cochaperone of GRP94 that enables proper biosynthesis of µHCs under conditions of ER stress. 相似文献
986.
Simone N. Vigod Kate Strasburg Zafiris J. Daskalakis Daniel M. Blumberger 《Archives of women's mental health》2014,17(2):87-95
Deficiencies in the inhibitory functioning of gamma-aminobutyric acid (GABA) have been implicated in the pathophysiology of depressive disorders. Reproductive life cycle events, including menstruation, pregnancy, and menopause, are consistently associated with increased psychopathology, in particular mood disorders. Given that GABA-inhibitory activity may be modulated directly or indirectly by estrogen, progesterone, and their metabolites receptors, it has been hypothesized that GABA deficits may be evident during these reproductive periods. We aimed to compare GABA function among women during these “high-risk” reproductive periods to GABA function among women at other time periods. We conducted a systematic review of studies comparing women during reproductive life stages associated with depressive disorder risk (luteal phase of the menstrual cycle, perinatal period, and menopausal transition) to women at other time periods. The study outcome was GABA function. The review included 11 studies, 9 focused on the menstrual cycle, and 2 focused on the perinatal period. GABA-inhibitory function fluctuated across the menstrual cycle, with differing patterns in women with and without depressive disorders. GABA-inhibitory function was reduced in pregnancy and early postpartum compared to the nonpregnant state. Key limitations were the absence of studies evaluating the menopausal transition, and the heterogeneity of GABA outcome measures. GABA-inhibitory function fluctuates across the menstrual cycle and is reduced perinatally. This has potential implications for a role of GABAergically mediated interventions in the prevention and treatment of menstrual cycle-related and perinatal depressive disorders. 相似文献
987.
988.
Natalia Lizama Terry Slevin Simone Pettigrew 《Australian and New Zealand journal of public health》2019,43(6):529-531
Objective: Several studies have examined the characteristics of anti‐smoking advertisements that are associated with quitting behaviour. Some studies use researchers or graduate students to code advertisement characteristics, while others recruit smokers or members of the general public. The aim of this study was to assist future campaign development by assessing whether anti‐smoking advertisement characteristics are coded differently by smokers and ‘experts’ (individuals with knowledge of health promotion, public health or advertising). Methods: A total of 49 smokers and 42 experts coded anti‐smoking advertisements according to four key characteristics (emotional/cognitive approach, negative/positive tone, message frame, and main message) and the use of eight executional techniques. Chi‐squared tests were used to measure differences in coding outcomes between smokers and experts. Results: There were significant differences between smokers and experts in the coding of all key characteristics and four of the eight executional techniques. Compared with smokers, experts were more likely to perceive advertisements as negative in tone and as inducing fear. Conclusions: Smokers and experts perceived the characteristics of anti‐smoking advertisements differently. Implications for public health: Differences between smokers and experts may need to be taken into account where studies use either of these groups to code advertisements for campaign development or evaluation purposes. 相似文献
989.
S J Dunn S W Park V Sharma G Raghu J M Simone R Tavassoli L M Young M A Ortega C H Pan G J Alegre I B Roninson G Lipkina A Dayn T A Holzmayer 《Gene therapy》1999,6(1):130-137
The development of general approaches for the isolation of efficient antivirals and the identification and validation of targets for drug screening are becoming increasingly important, due to the emergence of previously unrecognized viral diseases. The genetic suppressor element (GSE) technology is an approach based on the functional expression selection of efficient genetic inhibitors from random fragment libraries derived from a gene or genome of interest. We have applied this technology to isolate potent genetic inhibitors against HIV-1. Two strategies were used to select for GSEs that interfere with latent virus induction and productive HIV-1 infection based on the expression of intracellular and surface antigens. The selected GSEs clustered in seven narrowly defined regions of the HIV-1 genome and were found to be functionally active. These elements are potential candidates for the gene therapy of AIDS. The developed approaches can be applied to other viral pathogens, as well as for the identification of cellular genes supporting the HIV-1 life cycle. 相似文献
990.