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Interstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotype. 总被引:1,自引:0,他引:1
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A Schinzel F Binkert D M Lillington M Sands R J Stocks R H Lindenbaum H Matthews H Sheridan 《Journal of medical genetics》1991,28(5):352-355
We describe three unrelated patients with apparently identical interstitial deletions of the segment (18) (q12.2q21.1). They were a short and markedly mentally retarded 5 year old girl, a macrocephalic and obese 2 1/2 year old boy with moderate mental retardation, and a macrocephalic, severely mentally retarded 5 year old boy. Findings common to all five liveborn patients so far identified as carrying this deletion include a pattern of minor dysmorphic features (prominent forehead, ptosis of the upper eyelids, full periorbital tissue, epicanthic folds, strabismus), muscular hypotonia, seizures, behavioural disorders, and lack of major malformations. 相似文献
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Islam A Vladutiu AO Donahue T Akhter S Sands AM Ambrus JL 《Archives of pathology & laboratory medicine》2000,124(9):1361-1363
The expression of CD8, a restricted T-cell antigen, on B cells in B chronic lymphocytic leukemia is rare, and its significance, if any, remains unknown. We report herein a patient with B chronic lymphocytic leukemia in whom CD8 was strongly expressed on all B cells, both in the bone marrow and peripheral blood. The patient required no therapy for 6 years after being diagnosed as having B chronic lymphocytic leukemia. Then, when the disease progressed, he was treated with conventional doses of fludarabine phosphate (25 mg/m(2) daily for 5 days), but unlike other patients with B chronic lymphocytic leukemia he tolerated this therapy poorly. He received a total of only 4 series of fludarabine therapy, and following each course of treatment, he developed considerable myelosuppression. After the fourth course of therapy, his bone marrow failed to show any evidence of regeneration, and he died as a result of intercurrent respiratory tract infection 1 month after his last dose of fludarabine was given. 相似文献
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Broiler chicks were provided choices of synthetic diets (a) adequate or low in lysine, and (b) adequate in or devoid of lysine. In each case, chicks consumed some of each diet offered, but preference was shown for the adequate lysine diet. Growth rates of chicks given choices ranged from 80% of that of chicks fed an adequate lysine diet with no choice for two weeks, then growth rates fell to about 60% of those fed adequate lysine. In another study, chicks were fed a diet devoid of lysine but were offered pure L-lysine HCl in a separate feeder. These chicks selected some of the supplementary lysine, but their body weights were only 68% of the body weight of chicks fed an adequate lysine diet after 21 days. Chicks given a choice of diets prepared with an adequate quantity of either L- or D-lysine preferred with L-lysine diet but did not select sufficient quantity to reach normal growth. These observations indicate that chicks can discern the presence of L-lysine in diets or separately, but will not select sufficient quantity for maximum growth potential. A diet prepared with D-lysine was more acceptable than one completely devoid of lysine, suggesting some sensory recognition for lysine. 相似文献
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Present DH Rutgeerts P Targan S Hanauer SB Mayer L van Hogezand RA Podolsky DK Sands BE Braakman T DeWoody KL Schaible TF van Deventer SJ 《The New England journal of medicine》1999,340(18):1398-1405
BACKGROUND: Enterocutaneous fistulas are a serious complication of Crohn's disease and are difficult to treat. Infliximab, a chimeric monoclonal antibody to tumor necrosis factor alpha, has recently been developed as a treatment for Crohn's disease. We conducted a randomized, multicenter, double-blind, placebo-controlled trial of infliximab for the treatment of fistulas in patients with Crohn's disease. METHODS: The study included 94 adult patients who had draining abdominal or perianal fistulas of at least three months' duration as a complication of Crohn's disease. Patients were randomly assigned to receive one of three treatments: placebo (31 patients), 5 mg of infliximab per kilogram of body weight (31 patients), or 10 mg of infliximab per kilogram (32 patients); all three were to be administered intravenously at weeks 0, 2, and 6. The primary end point was a reduction of 50 percent or more from base line in the number of draining fistulas observed at two or more consecutive study visits. A secondary end point was the closure of all fistulas. RESULTS: Sixty-eight percent of the patients who received 5 mg of infliximab per kilogram and 56 percent of those who received 10 mg per kilogram achieved the primary end point, as compared with 26 percent of the patients in the placebo group (P=0.002 and P=0.02, respectively). In addition, 55 percent of the patients assigned to receive 5 mg of infliximab per kilogram and 38 percent of those assigned to 10 mg per kilogram had closure of all fistulas, as compared with 13 percent of the patients assigned to placebo (P=0.001 and P=0.04, respectively). The median length of time during which the fistulas remained closed was three months. More than 60 percent of patients in all the groups had adverse events. For patients treated with infliximab, the most common were headache, abscess, upper respiratory tract infection, and fatigue. CONCLUSIONS: Infliximab is an efficacious treatment for fistulas in patients with Crohn's disease. 相似文献
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R K Portenoy D Kurtzberg J C Arezzo G H Sands A Miller H G Vaughan 《Archives of neurology》1985,42(1):85-88
After a 65-year-old man had received anticoagulation therapy for brain-stem ischemia, a large, bilateral pontomesencephalic hemorrhage developed in the ischemic region. He survived a period of being "locked in" to attain a limited functional recovery. When he first became alert, brain-stem auditory evoked potentials and short-latency somatosensory evoked potentials (SEPs) demonstrated bilateral brain-stem damage; computed tomography revealed a bilateral tegmental hematoma. Results of repeated studies changed little as clinical improvement occurred. Recovery from brain-stem hemorrhage is rare, and return of consciousness with bilateral tegmental involvement is even more rare. The short-latency SEPs are useful in defining the extent of brain-stem damage, but they evaluate structures distinct from those regulating consciousness and cannot predict a return to alertness. 相似文献
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B A Brown G L Davis J Saltzgaber-Muller P Simon M K Ho P S Shaw B A Stone H Sands G P Moore 《Cancer research》1987,47(13):3577-3583
Murine variable and human constant region exons were fused to produce "chimeric" immunoglobulin gamma and kappa genes. These constructs were cotransfected into murine myeloma cells which then produced and secreted intact, functional antibody. Cells secreting the chimeric antibody were introduced into mice. The engineered immunoglobulin was subsequently harvested from ascites fluid and was purified by affinity chromatography. Its immunological properties were compared to those of the parental murine monoclonal (B6.2), which exhibits specificity for human breast, lung, and colon carcinoma cells. Competitive binding, immunofluorescent cell staining, and analysis of immunoprecipitated antigen gave similar results for the chimeric and murine B6.2. The biodistribution of chimeric and murine B6.2 after injection into mice bearing human tumors was found to be identical. These results suggest that murine/human chimeric antibodies may be viable clinical replacements for murine monoclonals with the potential for better immunological tolerance and pharmacological efficacy. 相似文献