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1.
We describe here a 3-year-old girl demonstrating combined cellular immunodeficiency of B- and T-cells, pancytopenia, multiple anomalies, and severe mental retardation. Cytogenetic analysis and fluorescent in situ hybridization (FISH) indicated an unbalanced translocation of chromosomes 8q and 11q, resulting in monosomy 11q23.3-qter and trisomy 8q24.3-qter. The association of cellular immunodeficiency and partial deletion 11q and/or partial trisomy 8q has not been described previously; however, the 11q deletion has been reported with humoral immunodeficiency or pancytopenia. Some one-third to one-half of patients with partial monosomy 11q were reported to have pancytopenia, which has been related to the absence of the 11q23-q24 region. Our case narrows down the critical interval for thrombo- or pancytopenia to 11q23.3-q24 and excludes both the ATM (which resides on 11q23.1) and the MLL genes as possible candidate genes. We are proposing that haploinsufficiency of the NFRKB gene on 11q24-q25 and/or the ETS-1 proto-oncogene on 11q24 may have caused or contributed to the immunodeficiency (decreased levels of B- and T-lymphocytes) in our patient. 相似文献
2.
Elucidation of conditions allowing conversion of penicillin G and other penicillins to deacetoxycephalosporins by resting cells and extracts of Streptomyces clavuligerus NP1 总被引:2,自引:0,他引:2
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Hiroshi Cho Jos L. Adrio Jos M. Luengo Saul Wolfe Simeon Ocran Gilberto Hintermann Jacqueline M. Piret Arnold L. Demain 《Proceedings of the National Academy of Sciences of the United States of America》1998,95(20):11544-11548
Using resting cells and extracts of Streptomyces clavuligerus NP1, we have been able to convert penicillin G (benzylpenicillin) to deacetoxycephalosporin G. Conversion was achieved by increasing by 45× the concentration of FeSO4 (1.8 mM) and doubling the concentration of α-ketoglutarate (1.28 mM) as compared with standard conditions used for the normal cell-free conversion of penicillin N to deacetoxycephalosporin C. ATP, MgSO4, KCl, and DTT, important in cell-free expansion of penicillin N, did not play a significant role in the ring expansion of penicillin G by resting cells or cell-free extracts. When these conditions were used with 14 other penicillins, ring expansion was achieved in all cases. 相似文献
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4.
Lotfi Bounaadja Jocelyne Piret Nathalie Goyette Guy Boivin 《Journal of clinical microbiology》2013,51(4):1244-1246
Evaluation of candidate antiviral drugs against Epstein-Barr virus (EBV), human herpesvirus 6 (HHV-6), and HHV-8 is hampered by the lack of convenient laboratory assays. We developed real-time quantitative PCR assays performed on supernatants of lymphoma cell lines and determined the 50% inhibitory concentrations (IC50s) of nucleoside, nucleotide, and pyrophosphate analogues against these herpesviruses. 相似文献
5.
We describe an unusual case of cardiac tamponade and pulmonary compression due to acute volvulus of colon interposition occuring late after oesophagectomy. Clinical signs were suggestive of cardiac tamponade but there was no evidence of pericardial effusion by transthoracic echocardiography. Thoracic-CT provided the diagnostic clue in revealing the extrapericardial nature (a major dilatation of the colonic transplant) of the tamponade. This diagnosis should be considered in case of acute cardiopulmonary distress occuring early or late after oesophagectomy. 相似文献
6.
Hemminki E Hovi SL Veerus P Sevón T Tuimala R Rahu M Hakama M 《Journal of clinical epidemiology》2004,57(12):1237-1243
PURPOSE: To compare the effect of blind design (active drug and placebo) and nonblind design (active drug and no treatment) on recruitment. SETTING: A primary prevention trial with postmenopausal hormone therapy in Estonia. METHODS: Women who were eligible and willing to participate on the basis of the questionnaire survey were randomized into blind and nonblind groups. Recruitment rates are based on record keeping, and reasons for participating were requested in the first-year follow-up. RESULTS: The recruitment was 30% higher in the nonblind group: of the 4,295 women invited, 37% (95% confidence interval CI=35-39%) in the blind group and 48% (95% CI=46-49%) in the nonblind group were recruited. In both groups, once randomized, most of the losses were women who did not attend the first clinical examination: 49% (blind; 95% CI=47-51%) and 40% (nonblind; 95% CI=38-42%). The rest were found ineligible or lost their interest during clinical examinations. The reasons for joining the trial were relatively similar in the two groups. CONCLUSIONS: Blinding decreased women's interest in joining a long-term preventive trial. Women's reasons for joining the trial were not influenced by blinding. 相似文献
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8.
G Niset K Moulard C Debouck A Piret J M Desmet M Joris J L Leclerc S Degré 《Annales de cardiologie et d'angeiologie》1986,35(3):151-154
Ergospirometry was performed on 51 patients before their discharge from hospital, that is between the seventh and tenth days after myocardial revascularization by cardiac bypass surgery. The aim of our study is to show that this type of measurement can be performed with reasonable safety and that it gives an accurate assessment of the patient's ability to withstand exercise. It employs a metabolic approach: study of oxygen consumption (V'O2), carbon dioxide release (V'CO2), the respiratory quotient (RQ), the minute ventilation (V'E) and the respiratory equivalent for oxygen (REO2). The patients withstood a mean load of 82 +/- 17.7 watts for a mean V'O2 of 1.186 +/- 0.258 l/min STPD and a mean V'E of 46.5 +/- 10 l/min BTPS. Changes in respiratory and metabolic parameters as a function of load are discussed, as is the advice that can be given to the patient regarding physical rehabilitation. 相似文献
9.
Piret J Désormeaux A Gourde P Juhász J Bergeron MG 《Antimicrobial agents and chemotherapy》2000,44(1):30-38
The topical efficacies of foscarnet and acyclovir incorporated into a polyoxypropylene-polyoxyethylene polymer were evaluated and compared to that of 5% acyclovir ointment (Zovirax) by use of a murine model of cutaneous herpes simplex virus type 1 infection. All three treatments given three times daily for 4 days and initiated 24 h after infection prevented the development of the zosteriform rash in mice. The acyclovir formulation and the acyclovir ointment reduced the virus titers below detectable levels in skin samples from the majority of mice, whereas the foscarnet formulation has less of an antiviral effect. Reducing the number of treatments to a single application given 24 h postinfection resulted in a significantly higher efficacy of the formulation of acyclovir than of the acyclovir ointment. Acyclovir incorporated within the polymer was also significantly more effective than the acyclovir ointment when treatment was initiated on day 5 postinfection. The higher efficacy of the acyclovir formulation than of the acyclovir ointment is attributed to the semiviscous character of the polymer, which allows better penetration of the drug into the skin. 相似文献
10.
Francois-Xavier Mbopi-Keou Sylvie Trottier Rabeea F. Omar Ngoh N. Nkele Sraphin Fokoua Enow R. Mbu Jean-Francois Giguere Marc-Christian Domingo Jocelyne Piret Landry Tsague Leopold Zekeng Anthony Mwatha Benoît Msse Michel G. Bergeron 《Contraception》2009,80(5):484-492