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31.
Boman F Farré I Farine MO Leroy JL Gauthier A Querleu D Vacher-Lavenu MC 《Clinical and experimental pathology》1999,47(2):81-87
The study evaluated the feasibility of a thinlayer technique on a routine basis for cervical smears and compared 473 ThinPrep preparations to the matched conventional Papsmears. The interpretation was double-blind and performed according to the Bethesda system. A consensus was established in discordant cases. The technique was easily mastered by gynecologists and technicians. Main advantages of the thinlayer technique were: a low number (1%) of unsatisfactory samples; a constant quality; homogeneity of cell distribution; the disappearance of problems of interpretation due to fixation or smear artifacts, red cells, polymorphs; a more precise interpretation, a firmer diagnosis; less visual fatigue; a shorter time of interpretation; the possibility of preparing more slides and performing special techniques on the same specimen. Main disadvantages were a higher cost and a necessary period of learning for cytologists. 相似文献
32.
Luoma PT Luo N Löscher WN Farr CL Horvath R Wanschitz J Kiechl S Kaguni LS Suomalainen A 《Human molecular genetics》2005,14(14):1907-1920
Defects of mitochondrial polymerase gamma (POLG) underlie neurological diseases ranging from myopathies to parkinsonism and infantile Alpers syndrome. The most severe manifestations have been associated with mutations of the 'spacer' region of POLG, the function of which has remained unstudied in humans. We identified a family, segregating three POLG amino acid variants, A467T, R627Q and Q1236H. The first two affect the spacer region and the third is a polymorphism, allelic with R627Q. Three grades of disease severity appeared to correlate with the genotypes. The patient with the most severe outcome, cerebellar ataxia syndrome, had all three variants, those with R627Q and Q1236H had juvenile-onset ptosis and gait disturbance and those with a single A467T allele had late-onset ptosis. To evaluate the molecular pathogenesis of these spacer defects, we expressed and purified the mutant proteins and studied their catalytic properties in vitro. The A467T substitution resulted in clearly decreased activity, DNA binding and processivity of the polymerase. Our biochemical data, the dominant manifestation of A467T and its previously reported high frequency in the Belgian population (0.6%), emphasize the role of this mutation as a common cause of neurological disease. Further, biochemical evidence that a polymorphic variant may modify the function of a mutant POLG, if occurring in the same polypeptide, is shown here. Finally, and surprisingly, other pathogenic spacer mutants showed DNA-binding affinities and processivities similar to or higher than the controls, suggesting that the disease-causing mechanisms of spacer mutations extend beyond the basic catalytic functions of POLG. 相似文献
33.
Summary A case of a 44-year-old woman with a solitary pulmonary coin lesion is presented. Histologic study of this nodule revealed a normal intraparenchymal pulmonary lymph node. A review of the literature discusses the incidence and characteristics of this entity.
Nud lymphatique intrapulmonaire: revue de la littérature. A propos d'un cas
Résumé L'observation d'un cas de lésion nodulaire du poumon est rapportée chez une femme de 44 ans. L'étude histologique du nodule a révélé un nud lymphatique intrapulmonaire normal. La revue de la littérature apprécie l'incidence et les caractéristiques de cette localisation.相似文献
34.
The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmission 总被引:2,自引:5,他引:2
Murray A; Macpherson JN; Pound MC; Sharrock A; Youings SA; Dennis NR; McKechnie N; Linehan P; Morton NE; Jacobs PA 《Human molecular genetics》1997,6(2):173-184
Factors involved in the stability of trinucleotide repeats during
transmission were studied in 139 families in which a full mutation,
premutation or intermediate allele at either FRAXA or FRAXE was
segregating. The transmission of alleles at FRAXA, FRAXE and four
microsatellite loci were recorded for all individuals. Instability within
the minimal and common ranges (0-40 repeats for FRAXA, 0-30 repeats for
FRAXE) was extremely rare; only one example was observed, an increased in
size at FRAXA from 29 to 39 repeats. Four FRAXA and three FRAXE alleles in
the intermediate range (41-60) repeats for FRAXA, 31-60 for FRAXE) were
unstably transmitted. Instability was more frequent for FRAXA intermediate
alleles that had a tract of pure CGG greater than 37 although instability
only occurred in two of 13 such transmissions: the changes observed were
limited to only one or two repeats. Premutation FRAXA alleles over 100
repeats expanded to a full mutation during female transmission in 100% of
cases, in agreement with other published series. There was no clear
correlation between haplotype and probability of expansion of FRAXA
premutations. Instability at FRAXA or FRAXE was more often observed in
conjunction with a second instability at an independent locus suggesting
genomic instability as a possible mechanism by which at least some FRAXA
and FRAXE mutations arise.
相似文献
35.
David P. Al-Adra Laura Hammel John Roberts E. Steve Woodle Deborah Levine Didier Mandelbrot Elizabeth Verna Jayme Locke Jonathan D'Cunha Maryjane Farr Deirdre Sawinski Piyush K. Agarwal Jennifer Plichta Sandhya Pruthi Deborah Farr Richard Carvajal John Walker Fiona Zwald Thomas Habermann Morie Gertz Philip Bierman Don S. Dizon Carrie Langstraat Talal Al-Qaoud Scott Eggener John P. Richgels George J. Chang Cristina Geltzeiler Gonzalo Sapisochin Rocco Ricciardi Alexander S. Krupnick Cassie Kennedy Nisha Mohindra David P. Foley Kymberly D. Watt 《American journal of transplantation》2021,21(2):460-474
Patients undergoing evaluation for solid organ transplantation (SOT) often have a history of malignancy. Although the cancer has been treated in these patients, the benefits of transplantation need to be balanced against the risk of tumor recurrence, especially in the setting of immunosuppression. Prior guidelines of when to transplant patients with a prior treated malignancy do not take in to account current staging, disease biology, or advances in cancer treatments. To develop contemporary recommendations, the American Society of Transplantation held a consensus workshop to perform a comprehensive review of current literature regarding cancer therapies, cancer stage-specific prognosis, the kinetics of cancer recurrence, and the limited data on the effects of immunosuppression on cancer-specific outcomes. This document contains prognosis based on contemporary treatment and transplant recommendations for breast, colorectal, anal, urological, gynecological, and nonsmall cell lung cancers. This conference and consensus documents aim to provide recommendations to assist in the evaluation of patients for SOT given a history of a pretransplant malignancy. 相似文献
36.
Jon Kobashigawa Darshana M. Dadhania Maryjane Farr W. H. Wilson Tang Arvind Bhimaraj Lawrence Czer Shelley Hall Abdolreza Haririan Richard N. Formica Jignesh Patel Rafael Skorka Savitri Fedson Titte Srinivas Jeffrey Testani Julie M. Yabu Xingxing S. Cheng the Consensus Conference Participants 《American journal of transplantation》2021,21(7):2459-2467
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40.
Gascón-Vila P Ribas L García-Closas R Farrán Codina A Serra-Majem L 《Gaceta sanitaria / S.E.S.P.A.S》1999,13(1):22-29
OBJECTIVE: Estimation of vitamin A, C, E and beta-carotene food sources, as well as its nutritional intake and density in adult Catalonian population. METHODOLOGY: A cross-sectional study was conducted over 2,346 individuals obtained from the sample of Catalonian Survey of Nutritional Status aged 18 to 75 years old to estimate usual dietary intake of vitamins A, C, E and beta-carotene using two 24 hour dietary recalls administered in two periods (june-july and november-december of 1992). Replicated 24 hour Recalls allowed for estimation of usual intake. Calculation of food sources for vitamins encompassed three phases: foods transformation into nutrients, aggregation of foods in categories and sum of nutrients by food categories. RESULTS: Intake of vitamin A (equivalents of retinol of provitamin A and vitamin A), E, C were closely near or higher than RDA. Nutritional density of vitamin C, E and beta-carotene were higher in female group. Nutritional density was positively associated to age for vitamins C, E and beta-carotene. Addition fat was the first source of vitamin E and it reached 33.8% of total vitamin E intake. Vegetables contributed in 17.3 % to the total vitamin C, whereas fruits accounted for 57.9%. Fruits recached 40.6% of the total beta-carotene intake, whereas vegetables accounted for 34.8%. The major contributors of vitamin A were milk and dairy products. CONCLUSIONS: Nutritional intake of vitamin A, C and E are over the RDA parameters suggesting an healthy nutritional status that must be confirmed and ratify by biochemical assessment. Nutritional densities were higher in female gender than in males in vitamins C, E, and beta-carotene possibly due to a higher intake of total lipids in male gender than in females. Nutritional density was positively associated to age in the same group of vitamins, suggesting a higher intake of empty calories in younger group. Fruits and Vegetables accounted for more than 70% of vitamin C and beta-carotene and major contributors were citrics, carrots, tomatoes, spinach, and cauliflower, highlighting their importance in elaboration of dietary guide lines. 相似文献