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121.
Renske Oegema George McGillivray Richard Leventer Anne‐Gaëlle Le Moing Nadia Bahi‐Buisson Angela Barnicoat Simone Mandelstam David Francis Fiona Francis Grazia M. S. Mancini Sanne Savelberg Gijs van Haaften Kshitij Mankad Maarten H. Lequin 《American journal of medical genetics. Part C, Seminars in medical genetics》2019,181(4):627-637
122.
Angela Coulter 《The British journal of general practice》1987,37(305):533-536
Data from the Oxford healthy life survey were used to explore social class variations in beliefs about the determinants of health, willingness to contemplate behaviour change and experience of lifestyle advice in primary care.While the association between lifestyle factors and health was well-recognized by all social groups, those in social classes 1 and 2 were more likely than others to stress the importance of smoking, diet and exercise, while those in social classes 4 and 5 were more likely than middle class people to emphasize the effect of socioeconomic influences on health such as unemployment, income, pollution and housing. Members of all social classes attributed considerable importance to psychosocial influences on health. In all social classes a substantial proportion of overweight people expressed a desire to reduce their weight, smokers to modify their smoking habits and sedentary people to increase the amount of exercise they took. However, there was less interest in dietary change or reduction of alcohol consumption. One third of the smokers and of those who were overweight had received advice from health professionals about behaviour modification, but less than 10% of those in the other risk groups reported receiving advice. There was a high demand for advice on health; 44% of all respondents said they would be interested in receiving advice on a healthier lifestyle. 相似文献
123.
Angela H. Pykett 《Journal of clinical pathology》1973,26(6):399-400
During 1971 and 1972, 71 cultures of neisseriae that attacked lactose were received by this laboratory. All strains except one from an eye swab were from the nasopharynx of healthy subjects. Nineteen similar strains from the nasopharynx were isolated in this laboratory.The characteristics of these strains were compared with those of Neisseria meningitidis, Neisseria pharyngis, Neisseria catarrhalis, and Neisseria lactamicus. The 90 strains under investigation closely resembled Neisseria meningitidis but could be differentiated by production of acid from lactose and beta-galactosidase activity and were therefore classified as Neisseria lactamicus. 相似文献
124.
T lymphocyte activation is associated with viral replication in chronic hepatitis B virus infection of childhood. 总被引:2,自引:0,他引:2
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A Vegnente S Guida A Lobo-Yeo L Alviggi H Daniels P Toscano V Nuzzo G Mieli-Vergani D Vergani 《Clinical and experimental immunology》1991,84(2):190-194
Activated circulating T lymphocytes expressing HLA-DR (mean +/- s.d. 11.0 +/- 5.2%) or interleukin-2 receptor (IL-2R) (2.1 +/- 1.7%) were significantly increased in 63 children with chronic hepatitis B virus (HBV) infection when compared with 33 age-matched healthy controls (3.0 +/- 1.3%, P less than 0.01, and 0.1 +/- 0.4%, P less than 0.01). HBeAg-positive patients had higher percentage of DR (11.9 +/- 5.1%) or IL-2R (2.4 +/- 1.7%) positive T lymphocytes than anti-HBe-positive children (7.4 +/- 3.6% and 1.1 +/- 1.5%, P less than 0.01 and P = 0.02 respectively). Similarly, HBV DNA-positive patients had higher percentage of DR (10.5 +/- 3.3) or IL-2R (3.2 +/- 1.7%) positive T cells than HBV DNA-negative children (6.6 +/- 2.8% and 1.2 +/- 1.5%, P less than 0.01 for both). There was a positive correlation between percentage of DR positive T lymphocytes and levels of HBV DNA. Sixty-two per cent of the DR-positive T lymphocytes were cytotoxic/suppressor and 35% helper/inducer. The relationship between viral replication and T lymphocyte activation is discussed. 相似文献
125.
126.
Ashley Parrott Philip R. Khoury Amy R. Shikany Angela Lorts Chet R. Villa Erin M. Miller 《American journal of medical genetics. Part C, Seminars in medical genetics》2020,184(1):116-123
Pediatric cardiomyopathies can be caused by variants in genes encoding the sarcomere and cytoskeleton in cardiomyocytes. Variants are typically inherited in an autosomal dominant manner with variable expressivity. De novo variants have been reported, however their overall frequency is largely unknown. We sought to determine the rate of de novo, pathogenic and likely pathogenic (P/LP) variants in children with a diagnosis of hypertrophic, dilated, or restrictive cardiomyopathy (HCM, DCM, or RCM), and to compare disease outcomes between individuals with and without a de novo variant. A retrospective record review identified 126 individuals with HCM (55%), DCM (37%), or RCM (8%) ≤18 years of age who had genetic testing. Overall, 50 (40%) had positive genetic testing and 18% of P/LP variants occurred de novo. The rate of de novo variation in those with RCM (80%) was higher than in those with HCM (9%) or DCM (20%). There was evidence of germline mosaicism in one family with RCM. Individuals with de novo variants were more likely than those without to have a history of arrhythmia (p = .049), sudden cardiac arrest (p = .024), hospitalization (p = .041), and cardiac transplantation (p = .030). The likelihood of de novo variation and impact on family risk and screening should be integrated into genetic counseling. 相似文献
127.
Homologues of insecticidal toxin complex genes in Yersinia enterocolitica biotype 1A and their contribution to virulence
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Yersinia enterocolitica is an enteric pathogen that consists of six biotypes: 1A, 1B, 2, 3, 4, and 5. Strains of the latter five biotypes can carry a virulence plasmid, known as pYV, and several well-characterized chromosomally encoded virulence determinants. Y. enterocolitica strains of biotype 1A lack the virulence-associated markers of pYV-bearing strains and were once considered to be avirulent. There is growing epidemiological, clinical, and experimental evidence, however, to suggest that some biotype 1A strains are virulent and can cause gastrointestinal disease. To identify potential virulence genes of pathogenic strains of Y. enterocolitica biotype 1A, we used genomic subtractive hybridization to determine genetic differences between two biotype 1A strains: an environmental isolate, Y. enterocolitica IP2222, and a clinical isolate, Y. enterocolitica T83. Among the Y. enterocolitica T83-specific genes we identified were three, tcbA, tcaC, and tccC, that showed homology to the insecticidal toxin complex (TC) genes first discovered in Photorhabdus luminescens. The Y. enterocolitica T83 TC gene homologues were expressed by Y. enterocolitica T83 and were significantly more prevalent among clinical biotype 1A strains than other Yersinia isolates. Inactivation of the TC genes in Y. enterocolitica T83 resulted in mutants which were attenuated in the ability to colonize the gastrointestinal tracts of perorally infected mice. These results indicate that products of the TC gene complex contribute to the virulence of some strains of Y. enterocolitica biotype 1A, possibly by facilitating their persistence in vivo. 相似文献
128.
D. K. Peters Angela Martin A. Weinstein J. S. Cameron T. M. Barratt C. S. Ogg P. J. Lachmann 《Clinical and experimental immunology》1972,11(3):311-320
Detailed studies of the complement system were carried out in fifteen patients with membranoproliferative glomerulonephritis. The findings of reduced levels of C3 and C7 and of circulating breakdown products of C3 in fresh plasma suggested in vivo complement activation. Low C3 levels were associated with the presence of a serum factor (the C3 nephritic factor C3NeF) which was capable of breaking down C3 in normal serum in vitro. Metabolic studies using radioactive iodine labelled C3 showed no evidence of accelerated in vivo breakdown of parenterally administered C3 suggesting that hypocomplementaemia is either maintained by diminished C3 synthesis or that accelerated catabolism is occurring in a pool that does not freely exchange with parenterally given C3. The C3 nephritic factor has so far only been identified in patients with membranoproliferative nephritis and is therefore of major diagnostic significance in patients with glomerular disease. 相似文献
129.
Aliquots of human blood mononuclear cells were culturedin vitro in the absence or presence of varying concentrations of histamine (10–3–10–8
M) for 24 hr, mitomycin treated, washed, and cocultured with autologous indicator cells that were then stimulated by PHA. The degree of suppression of thymidine uptake was measured in the presence of histamine-activated cells. The results demonstrated that histamine, in a dose-dependent fashion (10–3 and 10–4
M), significantly suppressed the PHA proliferative response. A minimum of 2 hr was required to activate cells by histamine to express suppressor function. While initial studies were carried out with a 1:1 suppressor:indicator cell ratio, it was found that maximum suppression resulted with lower rations (1:2 or 1:5) in some experiments, and was dependent somewhat on the concentration of histamine used. That the suppressor cells expressed histamine receptors was shown by the finding that histamine-Sepharose columns (but not control columns) depleted the histamine-reactive cells. In addition, Con A-reactive suppressor cells also adhered to histamine columns. Based on experiments with H1 and H2 antagonists and agonists, the histamine-responsive cell was apparently activated through its histamine type-2 receptor. 相似文献
130.
PCR-based diagnosis of acute and chronic cutaneous leishmaniasis caused by Leishmania (Viannia)
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Weigle KA Labrada LA Lozano C Santrich C Barker DC 《Journal of clinical microbiology》2002,40(2):601-606
We evaluated PCR methods for diagnosis of acute and chronic cutaneous leishmaniasis (CL) in an area of Colombia where Leishmania (Viannia) is endemic. The PCR method specifically amplified whole linearized minicircle kinetoplast DNA (kDNA) of the Leishmania subgenus Viannia from biopsy lysates. PCR products were detected in agarose gels. For 255 acute cases, this PCR method had greater sensitivity (75.7%) than each conventional method, i.e., microscopic examination of Giemsa-stained lesion scraping (46.7%), biopsy culture (55.3%), aspirate culture (46.3%), and the conventional methods combined (70.2%). Among 44 cases of chronic CL, amplification of biopsy DNA was more sensitive (45.5%) than the individual (4.5 to 27.7%) and combined (27.3%) conventional methods. The detection of kDNA in biopsies from chronic lesions was enhanced by a chemiluminescent dot blot hybridization, which produced a sensitivity of 65.8% when alone and 90.9% when in combination with DNA extraction of biopsy lysates (P < 0.001). Three biopsies from 84 skin lesions of other etiologies were falsely positive by PCR (specificity, 96.4%). PCR detected kDNA more frequently in biopsies (detection level, 83.9%) than in aspirates (74.7%) from 103 cases of acute CL. Among aspirates from 53 chronic cases of CL, the alternative methods, DNA extraction and hybridization, increased sensitivity from 41.5 to 56.6% (P > 0.05). This enhanced PCR method in chronic biopsies was so much more sensitive than conventional methods that it should be considered the preferred diagnostic method for chronic CL. These findings support the appropriate incorporation of PCR into diagnostic strategies for cutaneous leishmaniasis. 相似文献