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排序方式: 共有5062条查询结果,搜索用时 15 毫秒
51.
Jana Jedlickova Marie Vajter Tomas Barta Graeme C. M. Black Rahat Perveen Jan Mares Marek Fichtl Bohdan Kousal Lubica Dudakova Petra Liskova 《Clinical genetics》2023,104(4):418-426
Four members of a three-generation Czech family with early-onset chorioretinal dystrophy were shown to be heterozygous carriers of the n.37C>T in MIR204. The identification of this previously reported pathogenic variant confirms the existence of a distinct clinical entity caused by a sequence change in MIR204. Chorioretinal dystrophy was variably associated with iris coloboma, congenital glaucoma, and premature cataracts extending the phenotypic range of the condition. In silico analysis of the n.37C>T variant revealed 713 novel targets. Additionally, four family members were shown to be affected by albinism resulting from biallelic pathogenic OCA2 variants. Haplotype analysis excluded relatedness with the original family reported to harbour the n.37C>T variant in MIR204. Identification of a second independent family confirms the existence of a distinct MIR204-associated clinical entity and suggests that the phenotype may also involve congenital glaucoma. 相似文献
52.
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Wilkes L 《The Australian journal of rural health》1999,7(3):181-185
Can or should metropolitan residents research their rural counterparts and if they do are there inherent pitfalls or benefits? Throughout the history of social and anthropological research there has been debate on the insider–outsider/native–stranger controversy as to who should carry out the field work. This discourse will explore the author’s personal experiences in the context of planning a rural health project, entering the field, accessing the informants, interviewing the informants and leaving the field. 相似文献
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Graeme T. Laurie 《Health, risk & society》1999,1(3):333-341
The law has, to date, been slow to respond to advances in genetics, but in many ways this may be propitious. History teaches us that there is an ever-present risk that the law will be used merely to embody knee-jerk reactions to new developments in medicine and science, frequently to the detriment of all interested parties. Adequate and appropriate legal responses to genetic research can only come once a full debate on the problems to be addressed has taken place, and when society as a whole is appraised of the options at hand. This article offers an overview of the problems which are thrown up for the law by 'new genetics', including the problem of reconciling competing claims to genetic information from family members, insurers and employers, as well as the dilemma of determining how to regulate the potential range of uses of new genetic knowledge. The article offers some views on how we might use the law to proceed sensibly and productively in the future. 相似文献
56.
Human phase I vaccine trials of 3 recombinant asexual stage malaria antigens with Montanide ISA720 adjuvant 总被引:13,自引:0,他引:13
Allan Saul Gregor Lawrence Anne Smillie Christine M. Rzepczyk Carol Reed Darrin Taylor Karen Anderson Anthony Stowers Richard Kemp Anthony Allworth Robin F. Anders Graham V. Brown David Pye Peter Schoofs David O. Irving Shanny L. Dyer Graeme C. Woodrow William R. S. Briggs Rosemaria Reber Dieter Stürchler 《Vaccine》1999,17(23-24):3145-3159
Two phase I vaccine trials were conducted to test the immunogenicity and safety of a vaccine containing three recombinant malaria antigens from the asexual stage of Plasmodium falciparum. The three antigens are a fragment of MSP1 (190LCS.T3); MSP2 and a portion of RESA and were formulated in Montanide ISA720 adjuvant. These trials investigated the dose response of each antigen for eliciting both antibody and T-cell responses and the immunogenicity of a mixture of the antigens compared with the antigens injected separately. All three antigens elicited both antibody and T-cell responses. Strong T-cell responses were observed with 190LCS.T3 and RESA with stimulation indices exceeding 100 for peripheral blood leucocytes in some individuals. The antibody responses were generally weak. The human antibody responses observed with MSP2 in Montanide ISA720 were not significantly different from those obtained in an earlier trial which used MSP2 with alum as the adjuvant. No antigenic competition was observed: volunteers receiving a mixture of antigens had similar responses to those receiving the three antigens at separate sites. Tenderness and pain at the injection site were common over the first few days following immunization. In some volunteers, especially those receiving the highest doses tested, there was a delayed reaction at the injection site with pain and swelling occurring approximately 10 days after injection. 相似文献
57.
Moyle G Goll A Snape S Harris R Wilkes C Warburg M Salgo M 《International journal of antimicrobial agents》1996,7(1):41-48
This international expanded access programme was initiated to provide zalcitabine (o 75 mg three times daily) to patients with AIDS or advanced ARC who had failed, were no longer able to tolerate or were ineligible to receive zidovudine (ZDV). Data are available from 517 patients. No unexpected adverse events occurred during the study with 13.2% of patients discontinuing treatment due to drug-related adverse events. Peripheral neuropathy (PN) was the most common adverse event reported. This was considered to be at least possibly related to zalcitabine in 12.2% of patients, with only 2.3% of patients withdrawing from the study due to zalcitabine-associated PN. Patients with a baseline diagnosis of AIDS and a CD4 count = 50 cells/mm(3) were most likely to develop PN on zalcitabine. Fifty-seven patients (11%) died during the study, with death considered to be at least remotely related to therapy in only 2 cases (1 case each of pancreatitis and cerebral toxoplasmosis with possible sepsis/granulocytopenia). 相似文献
58.
Psychotropic drugs frequently cause agranulocytosis. It is therefore important that patients on these drugs who develop symptoms or signs of infection should have a full blood count performed, and if the neutrophil count is reduced, prompt withdrawal of the drug and, if necessary, immediate supportive care should be given to reduce the incidence of mortality. Once the patient has recovered, investigations can be performed to confirm the diagnosis and incriminate the responsible drug. It is imperative, in order that these tests may be performed, that serum samples are taken at the time of diagnosis of the neutropenic episode, throughout its course and during the recovery period. 相似文献
59.
Andrea Haldane Graeme J. Finlay John B. Gavin Bruce C. Baguley 《Cancer chemotherapy and pharmacology》1992,29(6):475-479
Summary The cytotoxicity ofN-[2-(dimethylamino)ethyl]acridine-4-carboxamide (AC; NSC 601 316), a new experimental DNA-intercalating antitumour drug, against a cultured Lewis lung adenocarcinoma cell line was compared with that of the DNA-intercalating antitumour drug amsacrine. In contrast to amsacrine, AC demonstrated self-inhibition of cytotoxicity following short (3–9 h) incubation periods and exponential killing (with a shoulder) after long (24–72 h) periods of incubation. The difference between these drugs was best demonstrated using a constant concentration x time (CxT) exposure (AC, 12 mol h l–1; amsacrine, 3 mol h l–1). In contrast to amsacrine, AC was minimally effective over exposure periods of 1 h and maximally effective over intermediate periods (4–6 h). The results suggest the possibility of designing AC administration protocols that maximise the drug's cytotoxicity towards solid tumours, which, because of diffusion barriers, are subjected to longer drug exposures than are well-vascularised tumours.Supported by the Auckland Division of the Cancer Society of New Zealand and by the Health Research Council of New Zealand 相似文献
60.