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991.
992.
Cristina Carrato Carolina Sanz Ana María Muoz-Mrmol Ignacio Blanco Marta Pineda Jesús Del Valle Estela Dmaso Manel Esteller Eva Musulen 《International journal of molecular sciences》2021,22(9)
Biallelic germline mismatch repair (MMR) gene (MLH1, MSH2, MSH6, and PMS2) mutations are an extremely rare event that causes constitutional mismatch repair deficiency (CMMRD) syndrome. CMMRD is underdiagnosed and often debuts with pediatric malignant brain tumors. A high degree of clinical awareness of the CMMRD phenotype is needed to identify new cases. Immunohistochemical (IHC) assessment of MMR protein expression and analysis of microsatellite instability (MSI) are the first tools with which to initiate the study of this syndrome in solid malignancies. MMR IHC shows a hallmark pattern with absence of staining in both neoplastic and non-neoplastic cells for the biallelic mutated gene. However, MSI often fails in brain malignancies. The aim of this report is to draw attention to the peculiar IHC profile that characterizes CMMRD syndrome and to review the difficulties in reaching an accurate diagnosis by describing the case of two siblings with biallelic MSH6 germline mutations and brain tumors. Given the difficulties involved in early diagnosis of CMMRD we propose the use of the IHC of MMR proteins in all malignant brain tumors diagnosed in individuals younger than 25 years-old to facilitate the diagnosis of CMMRD and to select those neoplasms that will benefit from immunotherapy treatment. 相似文献
993.
Tannin from “Acacia Mearnsii” usually called Mimosa, is largely employed in vegetal tanning of hide even if the quality of the leather is poorer than that obtained using chromium as tanning agents. However, taking into account the natural resources of this product and its reduced environmental impact, mimosa tannin has been modified to obtain leather having improved properties. Tannin was modified using formaldehyde, urea, a sulfonic acid and a sulfiting agent: The new products show a higher molecular weight than mimosa tannin but maintain a good solubility in water. Modified tannins were characterized through physicochemical and technological tests and evaluated as tanning agents. The properties of tanned leathers obtained using the new tannin products and mimosa were compared. Some of the polymers containing phenolsulfonic acid are good tannin agents, especially those with a suitable molecular weight. The technological and sensorial properties of the leather obtained using modified tannins (distension and strength of grain, tensile strength, elongation, and tear load) are better than those obtained using mimosa when an appropriate ratio of the reagents were employed. At the same time the feeling of the tanned leather was improved and the final products show fullness, elasticity, fluency, reactivity, and a thin and fine grain. Some of the tannins modified with naphtalensulfonic acid show poor tanning properties but good penetration in the leather suggesting their use as auxiliary sintans in the pretanning process. A simple procedure to prepare these modified tanning agents in the course of the tannin extraction is suggested. © 2008 Wiley Periodicals, Inc. J Appl Polym Sci, 2008 相似文献
994.
Theoretical formulations previously put forward to account for the effect of multiple scattering in the measurement of gas-liquid interfacial areas, at high AL values, are critically assessed. It is shown that inconsistencies arising from these can be satisfactorily resolved on the basis of the theory of Al Taweel et al. (1984) and experimental data available in the literature for the evaluation of the different parameters associated with the theory. An equation is proposed for the calculation of large gas-liquid interfacial areas for AL ≤ 280 and excellent agreement between predicted and experimental values is demonstrated. 相似文献
995.
M De la Fuente MD Ferrández M Del Rio M Sol Burgos J Miquel 《Canadian Metallurgical Quarterly》1998,104(3):213-225
DiGeorge syndrome (DGS) is a developmental field defect, characterised by absent/hypoplastic thymus and parathyroid, and conotruncal heart defects, with haploinsufficiency loci at 22q (DGS1) and 10p (DGS2). We performed fluorescence in situ hybridisations (FISH) and polymerase chain reaction (PCR) analyses in 12 patients with 10p deletions, nine of them with features of DGS, and in a familial translocation 10p;14q associated with midline defects. The critical DGS2 region is defined by two DGS patients, and maps within a 1 cM interval including D10S547 and D10S585. The other seven DGS patients are hemizygous for both loci. The breakpoint of the reciprocal translocation 10p;14q maps at a distance of at least 12 cM distal to the critical DGS2 region. Interstitial and terminal deletions described are in the range of 10-50 cM and enable the tentative mapping of loci for ptosis and hearing loss, features which are not part of the DGS clinical spectrum. 相似文献
996.
V Bocchino G Bertorelli X Zhuo P Grima V Di Comite R Damia A Chetta M Del Donno A Foresi A Casalini R Testi D Olivieri 《Canadian Metallurgical Quarterly》1997,10(5-6):253-259
The activation of T-lymphocytes through the recognition of specific allergens is a crucial event in the development of allergic inflammation. Dendritic cells (DC) are potent accessory cells that play an important role in initiating bronchial immune responses by activation of T-lymphocytes. We investigated the distribution of CD1a+ DC in the bronchial biopsies from asthmatic patients, and evaluated the effects of a short course of low dose inhaled fluticasone propionate treatment. Twenty-three mild to moderate stable asthmatic patients and eight normal subjects were included in the study. Bronchoscopy with bronchial biopsies were performed in each subject. Eighteen of the 23 asthmatics underwent a second bronchoscopy after 6 weeks of low dose inhaled fluticasone propionate treatment (250 mcg bd) in a placebo-controlled double-blind study. Biopsies were embedded into glycolmethacrylate resin and analysed by immunohistochemistry methods using specific monoclonal antibodies against CD1a, which is a widely recognized marker for DC. In asthmatics, CD1a+ DC number was significantly higher in bronchial epithelium (P < 0.001) and in lamina propria (P < 0.001) when compared with normal controls. In addition, we observed that a short course of low dose inhaled fluticasone propionate treatment decreased the number of CD1a+ DC in both the bronchial epithelium (P < 0.05) and lamina propria (P < 0.01). The increased number of CD1a+ DC support the hypothesis that DC play an important role in the modulation of the immune response in chronic asthma. Short-term low dose fluticasone propionate treatment induces down-regulation of the CD1a+ DC number. 相似文献
997.
De Luca Rayleen V.; Boyes Debby A.; Furer Patricia; Grayston Alana D.; Hiebert-Murphy Diane 《Canadian Metallurgical Quarterly》1992,33(2):168
Describes a 12-wk group therapy program used with more than 50 preadolescent children (aged 7–12 yrs) who have experienced intrafamilial sexual abuse. A cotherapy model is used. 90-min group sessions consist of 4 parts: circle time, focused activities, diary time, and snack. Activities are designed to highlight (1) development of trust, cohesiveness, and safety; (2) identification and labeling of feelings; (3) discussion of family relationships and family changes; and (4) exploration of issues associated with the offender. Sessions also examine legal issues and concerns and focus on self-esteem enhancement, social skills development, sex education, prevention of future abuse, and termination issues. (French abstract) (PsycINFO Database Record (c) 2010 APA, all rights reserved) 相似文献
998.
M. Del Arco M. F. M. Sanfelipe V. Rives P. Malet M. A. Ulibarri 《Journal of Materials Science》1992,27(11):2960-2966
Molybdena-alumina and molybdena-silica systems have been prepared by impregnating the support with aqueous solutions of ammonium heptamolybdate (samples I) or by mixing MoO3 with Al2O3 or SiO2 (samples M), and calcining at 770 K (to decompose the molybdate) and 1100 K (to melt molybdena). In all eight cases the composition corresponds to two monolayers of molybdena. The solids have been characterized by nitrogen adsorption, X-ray diffraction, electronic and infrared spectroscopies, temperature programmed reduction and electron microscopy. Whichever the preparation method, only molybdena is detected on silica, and molybdena and Al2(MoO4)3 on alumina. The dispersion of molybdena, however, depends on the preparation method and the nature of the support. Formation of ternary Mo-Al-O compounds is due to support-supported phase interaction, that stabilizes molybdena even upon calcining at 1100 K, while MoO3 is removed by sublimation from the silica surface, leaving only 6.5% of the original loading. This behaviour can be related to the differences in the acidities of the supports, and then reaction of the more basic alumina with molybdena is easier than reaction with silica, thus accounting for the weaker interaction of this support with molybdena. 相似文献
999.
Enrique Del Castillo Douglas C. Montgomery 《Quality and Reliability Engineering International》1994,10(2):87-97
In processes where the length of the production run is short, data to estimate the process parameters and control limits may not be available prior to the start of production, and because of the short run time, traditional methods for establishing control charts cannot be easily applied. Recently, Q charts have been proposed to address this problem. We study the average run length (ARL) of Q charts for a normally distributed variable assuming that a sustained shift occurs in the quality characteristic. It is shown that in some cases Q charts do not exhibit adequate ARL performance. Modifications that enhance the ARL properties of Q charts are presented. Some alternatives to Q charts are also discussed. For the case of a known process target two alternative methods are presented: an exponentially weighted moving average (EWMA) method and an adaptive Kalman filtering method. It is shown that both methods have better ARL performance than Q charts for that case. For the case of both process parameters unknown, an adaptive Kalman filtering method used with a tracking signal provides an ARL performance that improves as better estimates of the process mean and variance are given. A practical example illustrates the tracking signal method for the case when the process parameters are unknown. 相似文献
1000.