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Nephronophthisis related to homozygous NPHP1 gene deletion as a cause of chronic renal failure in adults. 总被引:1,自引:0,他引:1
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We describe a simple direct extraction method for the gas-liquid chromatography determination of serum valproic acid. The working range for the assay is 2-180 mg/L and our within-run precision was 5.8 and 4.3% at the 40 and 90 mg/L concentrations respectively. Hemolyzed and lipemic sera as well as samples from patients with hyperbilirubinemia and from patients with decreased renal function were put through the assay and no interfering peaks were noted. Interference occurred when teflon-lined screw caps were used during the extraction step. The method was proven to be accurate by linear regression analysis of samples containing weighed-in amounts of valproic acid. The above assay was compared to an enzyme immunoassay technique (EMIT). The working range for the latter is 10-150 mg/L and the with-run precision was 10.8 and 5.9% and 90 mg/L concentration respectively. Samples were run by both the gas-liquid chromatograph and enzyme immunoassay methods and gave very similar results over the range 16-139 mg/L. 相似文献
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Foods have always been considered by man as a means of ensuring his physiological needs, allowing the growth, development and preservation of the body and its tissues (nutritional value of food). To this can be added the feelings of satisfaction and well-being that food gives to its consumer, thus constituting an element that is fundamental for our physiological and mental balance (the sensorial value of food).Nevertheless, recent scientific studies have shown that over and above the ensuring of nutritional needs, eating habits can also adjust certain functions of the human organism and thus play a beneficial or harmful role on one's health (the functional value of food).The whole concept of nutrition has been enriched by the notion that eating is not only a survival reflex (satisfaction derived through eating and the avoidance of harmful effects due to eating deficiencies or excesses): eating aims to improve one's health and well-being and to reduce the risk of developing various pathologies. These new data open interesting new horizons in today's context where health is increasingly expensive and people are increasingly concerned to improve their quality of live. 相似文献
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Degoul F; Brule H; Cepanec C; Helm M; Marsac C; Leroux J; Giege R; Florentz C 《Human molecular genetics》1998,7(3):347-354
7.
Coindre JM Hostein I Maire G Derré J Guillou L Leroux A Ghnassia JP Collin F Pedeutour F Aurias A 《The Journal of pathology》2004,203(3):822-830
Inflammatory malignant fibrous histiocytoma (inflammatory MFH) is a very rare tumour that occurs most often in the retroperitoneum. So far, it has been considered to be a special subtype of MFH. As it is now widely accepted that most retroperitoneal pleomorphic MFHs are dedifferentiated liposarcomas, the present study compared histological features, genomic profile (CGH analysis), and MDM2 and CDK4 status (immunohistochemistry, FISH, and quantitative PCR) in inflammatory MFHs from 12 patients and dedifferentiated liposarcomas that had an inflammatory MFH component from eight patients. Metaphase cytogenetic and FISH analyses were also performed on one inflammatory MFH. Histological review showed areas of well-differentiated liposarcoma in nine inflammatory MFHs. CGH analysis showed 12q13-15 amplification or gain in six of seven inflammatory MFHs and in seven of seven dedifferentiated liposarcomas. Immunohistochemistry showed positivity of tumour cells for MDM2 in every tumour in both groups and for CDK4 in ten and seven inflammatory MFHs and dedifferentiated liposarcomas, respectively. Metaphase cytogenetic and FISH analysis performed on one inflammatory MFH showed the presence of a supernumerary large marker chromosome and ring chromosome with high-level amplification of both MDM2 and CDK4 genes. FISH analysis on paraffin wax-embedded sections showed amplifications of MDM2 and CDK4 in seven of seven inflammatory MFHs and in seven of seven dedifferentiated liposarcomas. Quantitative PCR showed amplification of MDM2 in six and of CDK4 in seven of nine inflammatory MFHs. In conclusion, this study strongly suggests that most so-called inflammatory MFHs are dedifferentiated liposarcomas. 相似文献
8.
Deparis X Frere B Lamizana M N'Guessan R Leroux F Lefevre P Finot L Hougard JM Carnevale P Gillet P Baudon D 《Journal of medical entomology》2004,41(5):914-921
In 2000, 22,000 French military personnel were deployed overseas. The French military health service implemented a vector control strategy including personal protection by the use of permethrin preimpregnated battlefield uniforms (BFUs) and the application on the skin of a topical repellent (50% DEET). In 2000, French forces used an industrial process to impregnate cloth with permethrin by soaking it before cut-out of the BFU. A study was implemented in four experimental huts in C?te d'Ivoire to assess the field efficacy of the impregnated BFUs and their resistance to washing. Taking into account the systematic variations in each variable in the field and using a modeling based on logistic regression and discriminant analysis, this study showed that after 6 h without reapplication, the protective effects of the use of DEET as skin repellent was not significant, perhaps due to the high density of Anopheles mosquitoes during the night catching sessions and an average time of effective repellency of < 2 or 3 h in the field. The analysis also showed that the French process of industrial impregnation of permethrin of the BFU offered in 2000 some protection from mosquito bites but not enough to reduce significantly the incidence of malaria among nonimmune troops. No positive or negative interaction was noted when DEET and the impregnated BFUs were used together. 相似文献
9.
Julie Seguier Véronique Gelsi-Boyer Mikael Ebbo Zeinab Hamidou Aude Charbonnier Emmanuelle Bernit Jean-Marc Durand Jean-Robert Harlé Norbert Vey Nicolas Schleinitz 《Autoimmunity reviews》2019,18(1):36-42
Background
We conducted a monocentric retrospective study of patients with myelodysplastic syndromes (MDS) and autoimmune or inflammatory disorders (AIMs) and a literature review. We analyzed the association with subgroups of the WHO 2016 MDS classification and patient's survival in a case control study. Risk factors associated with survival were analyzed by uni- and multivariate analysis.Results
From all MDS patients 11% presented with AIMs. These were heterogeneous and the most frequent where polyarthritis (25%) and autoimmune cytopenias (17%). No difference for frequency and type of AIMs was observed for the WHO 2016 MDS subgroups (p?=?.3). In the case control study WHO classification, karyotype abnormalities, IPSS-R and IPSS were similar in both groups. The overall survival from MDS diagnosis was better in the group with AIMs [10.3?±?0.6 (IC95% 6.2–12.9) versus 4.8?±?1.1?years (IC95% 4.2–8.7), p?=?.04]. The better survival was restricted to MDS with low or intermediate-1 IPSS [11.1?±?1.5 (IC95% 9.9-NR) versus 8.7?±?1.3?years (IC95% 4.8–10.3), p?=?.006]. The better survival was only observed when AIMs diagnosis was timely associated or appeared after MDS diagnosis (p?=?.04). Factors associated with a better overall survival and survival without AML were steroid dependence [respectively HR?=?0.042, p?=?.003, (IC95% 0.005–0.33) and HR?=?0.07, p?=?.002, (IC95% 0.013–0.39)], a diagnosis of AIMs and MDS timely associated [respectively HR?=?0.05, p?=?.009, (IC95% 0.006–0.478) and HR?=?0.1, p?=?.008, (IC95% 0.018–0.54)] or a diagnosis of AIMs after MDS [respectively HR?=?0.024, p?=?.009, (IC95% 0.001–0.39) and HR?=?0.04, p?=?.008, (IC95% 0.003–0.43)].Conclusion
Autoimmune and inflammatory diseases associated to MDS are heterogeneous. AIMs diagnosed after or concomitantly to MDS seems associated with a better survival. Prospective studies are necessary to demonstrate that autoimmunity is associated to a better control of the MDS clone. 相似文献10.
Mohty M Isnardon D Charbonnier A Lafage-Pochitaloff M Merlin M Sainty D Olive D Gaugler B 《International immunology》2002,14(7):741-750
Dendritic cells (DC) are a group of potent antigen-presenting cells (APC) specialized for initiating T cell immune responses. They originate from the bone marrow and upon stimulation with bacterial products, cytokines or CD40 ligation they acquire the ability to migrate to the secondary lymphoid organs. In vitro DC can be generated from human CD34(+) bone marrow cells and CD14(+) peripheral blood monocytes after culture with different cytokine combinations. Since most leukemic cells and tumors in general are devoid of APC capacities, various strategies have been used to increase their recognition and confer the capacity of antigen presentation on them. Because of our interest in the design of vaccine immunotherapy protocols for the adjuvant treatment of patients with lymphoid malignancies (LM), we chose to explore the capacity of human acute lymphoblastic leukemia, chronic lymphocytic leukemia and plasma cell leukemia to differentiate into cells with APC and DC features. Our results among a sample of 10 patients demonstrate that such approach is feasible. Leukemic cells could be induced in the presence of IL-4 and CD40L to exhibit a DC morphology with a phenotype of mature DC-like cells. They could also induce a potent proliferative response in naive CD4(+) T cells. In addition, they expressed chemokine receptor CCR7 and CD62L, and could drive T cells towards a T(h)1 response with secretion of IFN-gamma. Our strategy leading to increased LM cell immunogenicity may have potential clinical applications and LM appear to be attracting candidates for adjuvant vaccination and adoptive immunotherapy. 相似文献