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Deborah J. Morris-Rosendahl Edgar Burgert Gkhan Uyanik Antonia Mayerova Fabrice Duval Jean-Paul Macher Marc-Antoine Crocq 《American journal of medical genetics. Part A》1997,74(3):324-330
We have genotyped unrelated French Alsatian schizophrenic and bipolar I disorder (BPD) patients and matched controls for the polymorphic CAG repeats within the genes for spinocerebellar ataxia type 1 (SCA1) and dentatorubral-pallidoluysian atrophy (B37), in order to test their possible involvement in these disorders. No alleles with abnormally expanded repeats were found in either gene in patients and controls. Differences in allele and genotype frequencies for the SCA1 CAG repeat between patients and controls were not significant, thus providing no support for its role as a possible positional candidate gene for schizophrenia and BPD in our patients. Chi square testing revealed a significant result ( P = 0.019) for an association between the B37 CAG repeat on chromosome 12p and schizophrenia. This result was more significant when only schizophrenics with a positive family history were compared with controls ( P = 0.0001). The frequencies of alleles with 14, 12, and 15 CAG repeats differed the most, respectively, between schizophrenics and controls. When choosing the median of the B37 allele distribution (15 CAG repeats) as a threshold, there were significantly more controls than schizophrenics in the group with longer alleles (15 or more repeats) and more schizophrenics with shorter alleles ( P = 0.002 by Fisher exact test). No particular genotype was associated with schizophrenia. This result possibly indicates linkage disequilibrium with another locus on chromosome 12p and therefore deserves further attention. No association was found between the B37 CAG repeat and patients with BPD. Am. J. Med. Genet. 74:324–330, 1997. © 1997 Wiley-Liss, Inc. 相似文献
74.
Mild-to-profound anemia, thrombocytopenia, and rarely neutropenia have been observed in patients with the acquired immune deficiency syndrome (AIDS). To investigate a possible immune mechanism, blood samples from 28 hospitalized AIDS patients, four asymptomatic homosexual men, four homosexual men with the AIDS-related lymphadenopathy syndrome, 30 hospitalized patients with diseases other than AIDS, and 60 blood donors were tested for the presence of atypical red cell antibodies. Eighteen AIDS patients (64%) had anti-i, nine (32%) had autoanti-U, and 12 (43%) had a positive direct antiglobulin test. One asymptomatic homosexual man and three homosexual men with lymphadenopathy also had anti-i. In contrast, of the 30 patients with diseases other than AIDS and 60 donors, none had anti-U or a positive direct antiglobulin test. One patient with sickle cell disease had anti-i. The mean hemoglobin level of AIDS patients with anti-i or anti-U was significantly lower than the mean hemoglobin level of patients who did not have those antibodies. 相似文献
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D W Anderson R Virmani J M Reilly T O'Leary R E Cunnion M Robinowitz A M Macher U Punja S T Villaflor J E Parrillo 《Journal of the American College of Cardiology》1988,11(4):792-799
The prevalence of myocarditis was retrospectively evaluated in 71 consecutive necropsy patients who died from acquired immunodeficiency syndrome (AIDS) between 1982 and 1986. Myocarditis was found in 37 cases (52%). Biventricular dilation at necropsy was present in seven cases (10%) and was accompanied by myocarditis in each case; fatal congestive heart failure occurred in four of these seven cases. Although viral, protozoan, bacterial, fungal and mycobacterial opportunistic pathogens were present in myocardial sections of 7 of 37 myocarditis cases, the etiology of myocarditis in the majority of these patients with AIDS remained idiopathic. Thus, myocarditis is a frequent finding at necropsy in patients with AIDS and may contribute to the development of biventricular dilation. 相似文献
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A Macher E Goosby L Barker P Volberding R Goldschmidt K B Balano A Williams L Hoenig B Gould E Daniels 《Public health reports (Washington, D.C. : 1974)》1994,109(3):305-310
As HIV-related prophylactic and therapeutic research findings continue to evolve, the Health Resources and Services Administration (HRSA) of the Public Health Service has created multidisciplinary mechanisms to disseminate new treatment options and educate primary care providers at rural and urban sites throughout our nation''s health care system. HRSA has implemented (a) the International State-of-the-Art HIV Clinical Conference Call Series, (b) the national network of AIDS Education and Training Centers, (c) the nationwide HIV Telephone Consultation Service, and (d) the Clinical Issues Subcommittee of the HRSA AIDS Advisory Committee. These collaborative and comprehensive efforts at HIV information dissemination target physicians, nurses, physician assistants, dentists, clinical pharmacists, mental health care providers, case managers, and allied health professionals. The sites where they provide care include public health clinics; county, State and Federal correctional facilities; private practice offices; community and academic hospitals; military and Veterans Administration facilities; hemophilia centers; schools of medicine, nursing, and dentistry; departments of health; chronic care facilities; visiting nurse and home care agencies; health maintenance organizations; and Indian Health Service clinics and hospitals. 相似文献
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Walter M. Holleran Michael W. DeGregorio Ram Ganapathi Jordan R. Wilbur Bruce A. Macher 《Cancer chemotherapy and pharmacology》1986,17(1):11-15
Summary The purpose of this study was to determine whether changes in cellular lipid composition accompanied the selection of cells that are resistant to the anthracycline doxorubicin. Total cellular lipid extracts from doxorubicin-sensitive and doxorubicin-resistant P388 murine leukemia cells were prepared and separated into neutral glycosphingolipids, gangliosides, phospholipids, and neutral lipid families. No significant quantitative differences in total cholesterol, lipid-bound sialic acid, neutral hexose, and lipid-bound phosphate were found between the two cell lines. Gas-liquid chromatographic analysis of the fatty acids derived from each lipid class demonstrated that sensitive and resistant cells had essentially identical fatty acid compositions. Qualitative evaluation of the four lipid classes by high-performance thin layer chromatography revealed only minor differences in lipid composition between the resistant and the sensitive cells. Results from this study indicate that although minor differences between the two cell lines are present, no major cellular lipid differences are evident to account for the marked differences in the cellular pharmacokinetics and cytotoxic effects of doxorubicin between doxorubicin-sensitive and doxorubicin-resistant P388 murine leukemia a cells.This work was supported by the Louis R. Lurie Foundation and the Leukemia Research Foundation Inc.W. M. Holleran is a Postdoctoral Pharmacy Fellow of the Children's Cancer Research Institute 相似文献