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排序方式: 共有272条查询结果,搜索用时 15 毫秒
1.
L Boughamoura F Chaabane S Tilouche I Chabchoub N Kabachi K Tlili M Yacoub A-S Essoussi 《Archives de pédiatrie》2007,14(2):173-176
Canavan disease or N-acetyl aspartic aciduria, is an autosomal recessive leukodystrophy characterized by spongy degeneration of brain. The disease is an inborn error of metabolism caused by aspartoacylase deficiency resulting from accumulation of N-acetyl aspartic acid in the brain. The authors report a case in a 10-month-old boy who presented with developmental delay and megalencephaly noticeable after 4 months of age. Magnetic resonance imaging of the brain showed diffuse white matter degeneration. The diagnosis of Canavan disease was confirmed by nuclear magnetic resonance spectroscopy and gas chromatography-mass spectrometry. 相似文献
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High mobility group 1 B-box mediates activation of human endothelium 总被引:22,自引:0,他引:22
Treutiger CJ Mullins GE Johansson AS Rouhiainen A Rauvala HM Erlandsson-Harris H Andersson U Yang H Tracey KJ Andersson J Palmblad JE 《Journal of internal medicine》2003,254(4):375-385
OBJECTIVES: Severe sepsis and septic shock is a consequence of a generalized inflammatory systemic response because of an invasive infection that may result in acute organ dysfunction. Mortality is high despite access to modern intensive care units. The nuclear DNA binding protein high mobility group 1 (HMGB1) protein has recently been suggested to act as a late mediator of septic shock via its function as a macrophage-derived pro-inflammatory cytokine (J Exp Med 2000; 192: 565, Science1999; 285: 248). We investigated the pro-inflammatory activities of the A-box and the B-box of HMGB1 on human umbilical venular endothelial cells (HUVEC). DESIGN: The HUVEC obtained from healthy donors were used for experiments. Recombinant human full-length HMGB1, A-box and B-box were cloned by polymerase chain reaction (PCR) amplification from a human brain quick-clone cDNA. The activation of HUVEC was studied regarding (i) upregulation of adhesion molecules, (ii) the release of cytokines and chemokines, (iii) the adhesion of neutrophils to HUVEC, (iv) the activation of signalling transduction pathways and (v) the involvement of the receptor for advanced glycation end-products (RAGE). RESULTS: The full-length protein and the B-box of HMGB1 dose-dependently activate HUVEC to upregulate adhesion molecules such as ICAM-1, VCAM-1 and E-selectin and to release IL-8 and G-CSF. The activation of HUVEC could be inhibited to 50% by antibodies directed towards the RAGE. HMGB1-mediated HUVEC stimulation resulted in phosphorylation of the ELK-1 signal transduction protein and a nuclear translocation of p65 plus c-Rel, suggesting that HMGB1 signalling is regulated in endothelial cells through NF-kappaB. CONCLUSIONS: The HMGB1 acts as a potent pro-inflammatory cytokine on HUVEC and the activity is mainly mediated through the B-box of the protein. HMGB1 may be a key factor mediating part of the pro-inflammatory response occurring in septic shock and severe inflammation. 相似文献
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AIM: To document the concerns and expectations of parents of children with inflammatory bowel disease (IBD) within the context of a multidisciplinary IBD clinic, and to highlight the importance of a holistic approach to the care of these children. METHODS: The parents of 60 children with IBD were surveyed by mailed questionnaire. Parents were asked to provide details of their concerns regarding their child's condition and to express their expectations of medical care. In addition, enquiry was made in respect to the respondents' learning about IBD. RESULTS: Forty-six questionnaires (77%) returned. Fiftytwo percent of the patients were male. Patients were aged a mean of 10.9 (±4.1) years and diagnosed at an average age of 2.1 (±1.8) years previously. The most common concerns expressed by the parents related to the side- effects of medications and the future prospects for their child. Overall, parents were satisfied with aspects of care within the IBD clinic but many suggested additional personnel such as counselors or educators should be available. Parents also reported the need for continuing education and easy access to up-to-date information. CONCLUSION: Parents of children and adolescents with IBD have many common concerns regarding their child's condition. On-going attention to holistic care, including psychosocial and educational elements for patients and families, is appropriate in the context of the chronic and unpredictable nature of IBD. 相似文献
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Brondex A Arlès F Lipovac AS Richecoeur M Bronstein JA 《Annales de cardiologie et d'angeiologie》2012,61(2):99-104
Cirrhosis is a frequent and severe condition, which is the late stage of numerous chronic liver diseases. It is associated with major hemodynamic alterations characteristic of hyperdynamic circulation and with a series of structural, functional, electrophysiological and biological heart abnormalities termed cirrhotic cardiomyopathy. The pathogenesis of this syndrome is multifactorial. It is usually clinically latent or mild, likely because the peripheral vasodilatation significantly reduces the left ventricle afterload. However, sudden changes of hemodynamic state (vascular filling, surgical or transjugular intrahepatic porto-systemic shunts, peritoneo-venous shunts and orthotopic liver transplantation) or myocardial contractility (introduction of beta-blocker therapy) can unmask its presence, and sometimes convert latent to overt heart failure. Cirrhotic cardiomyopathy may also contribute to the pathogenesis of hepatorenal syndrome. This entity has been described recently, and its diagnostic criteria are still under debate. To date, current management recommendations are empirical, nonspecific measures. Recognition of cirrhotic cardiomyopathy depends on a high level of awareness for the presence of this syndrome, particularly in patients with advanced cirrhosis who undergo significant surgical, pharmacological or physiological stresses. 相似文献
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Rådinger M Bossios A Alm AS Jeurink P Lu Y Malmhäll C Sjöstrand M Lötvall J 《Allergy》2007,62(12):1410-1418
BACKGROUND: The mechanisms of the distant stimulation of the bone marrow (BM) after airway allergen exposure remain largely obscure. T cells have been implicated in allergic airway inflammation but their role in allergen-induced BM eosinophilopoiesis is poorly understood. The aim of this study was to determine the role of CD4(+) and CD8(+) T cells in allergen-induced BM eosinophilopoiesis. METHODS: Ovalbumin (OVA)-sensitized wild type (WT), CD4 knockout (CD4-/-) and CD8 knockout (CD8-/-) mice were exposed intranasally to OVA or saline. Bromo-deoxyuridine (BrdU) was used to label newly produced cells. Bone marrow, blood and bronchoalveolar lavage (BAL) were sampled 24 h after the final exposure. Immunostaining for newly produced eosinophils (i.e. BrdU(+)/MBP(+)) and BM eosinophil progenitor [CD34(+)/CD45(+)/interleukin-5 (IL-5)Ralpha(+)] cells was performed. RESULTS: The number of newly produced BM eosinophils (BrdU(+)/MBP(+) cells) was significantly reduced in allergen exposed CD4-/- or CD8-/- mice compared with allergen exposed WT mice, which was followed by a subsequent decrease in newly produced blood and airway eosinophils. Furthermore, BM eosinophil progenitors were significantly reduced in allergen exposed CD4-/- and CD8-/- mice compared with WT mice. Finally, serum IL-5 and Bronchoalveolar lavage fluid eotaxin-2 levels were abolished in allergen exposed CD4-/- mice to levels seen in saline exposed WT mice. CONCLUSIONS: These data suggests that both CD4(+) and CD8(+) T cells have a regulatory role in allergen-induced BM eosinophilopoiesis, whereas CD4(+) T cells are obligatory for allergen-induced airway eosinophilia. The subsequent traffic of eosinophils to the airways is likely to be at least partly regulated by a CD4(+) T-cell-dependent local airway eotaxin-2 production. 相似文献
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Gauchez AS Pez E Boutonnat J Bourre JC Pelletier L Payan R Mousseau M 《Annales de biologie clinique》2007,65(6):653-658
Fifteen per cent of metastatic breast cancer will develop symptomatic leptomeningeal metastases. The introduction of trastuzumab (Herceptin) therapy has improved the response rates of survival of patients with metastatic breast cancer overexpressing HER2. Although previous studies are retrospective and of limited number, involving small study groups and different types of patient management, several authors have reported a 30% incidence of leptomeningeal metastases in patients with metastatic breast cancer overexpressing HER2 who were treated with trastuzumab, while 70 to 80% of cases of the disease were controlled systemically. In order to improve control of the disease at the level of the central nervous system (CNS), routine detection of leptomeningeal metastases in high-risk patients could be offered. CA 15-3 in cerebrospinal fluid (CSF) detection might be useful in helping to diagnose CNS metastases, particularly where cytology results are negative--which applies to 30% of cases--because tumor markers are more sensitive in detecting the tumor process. Our study validate CA 15-3 measurement in CSF and reference values were given. 相似文献
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Boris Gass Emilie Marrer Simona Bara Karine Ligier Florence Molinié Marc Colonna Laetitia Daubisse-Marliac Brigitte Trétarre Bénédicte Lapôtre-Ledoux Anne-Sophie Woronoff Anne-Valérie Guizard Véronique Bouvier Xavier Troussard Christian Gaiddon Delphine Klein Michel Velten Jérémie Jégu 《Annals of epidemiology》2018,28(5):322-327
Purpose
To analyze trends in second primary cancer (SPC) incidence by using a case-mix approach to standardize on first cancer site distribution.Methods
Cases registered by 13 French cancer registries between 1989 and 2010 and followed-up until June 2013 were included. The person-year approach was used to compute standardized incidence ratios (SIRs) of metachronous SPC. Usual SIRs and cancer site–specific weighted SIRs called “case-mix SIRs” (cmSIRs) were estimated by sex and calendar period of first cancer diagnosis. Calendar trends in SIRs and cmSIRs were compared.Results
More than 2.9 million person-years at risk were included. Among males, SIRs dropped from 1.49 to 1.23 between 1989–1994 and 2005–2010, while cmSIRs decreased from 1.40 to 1.27. This difference seems mainly related to a stronger representation of prostate cancers (at lower risk of SPC) and a weaker contribution of bladder and head and neck cancers (at higher risk of SPC) in recent periods of diagnosis. Among females, both SIRs and cmSIRs have remained stable at around 1.22 and 1.21, respectively.Conclusions
The cmSIR is an indicator that is not influenced by changes in first cancer site distribution. Its use should be encouraged to assess second cancer incidence control. 相似文献10.
Dupont C Touzet S Ploin D Croidieu C Balsan M Mazas AS Rudigoz RC 《Journal de gynecologie, obstetrique et biologie de la reproduction》2007,36(4):375-383