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101.
Jean-Christophe Zech Laurette Morlé Pascale Vincent Nicole Alloisio Muriel Bozon Colette Gonnet Solange Milazzo Jean-Daniel Grange Christiane Trepsat Jacqueline Godet Henri Plauchu 《Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie》1999,237(5):387-393
· Background: It has been previously described that Wagner disease is linked to chromosome 5q13-q14. This study was carried
out to describe the ophthalmological aspects and report the results of genetic linkage analysis in a large pedigree affected
by Wagner disease. · Methods: Fourty members of one same family agreed to be examined. · Results: Twenty patients presented
vitreoretinal degeneration in both eyes without any extra-ocular abnormalities. In young patients, visual acuity was usually
normal after correction of frequent mild myopia. Presenile cataracts progressed by the third decade and required removal for
visual rehabilitation. The primary disorder involved an abnormal vitreous. A few avascular vitreous bands were usually the
only optical feature in the mostly empty vitreous cavity. A circumferential vitreous condensation formed in contact with the
retina on many spots. Less common retinal findings included retinal detachment, abnormal retinal pigmentation, progressive
atrophy of the RPE simulating choroideremia and lattice degeneration. Genetic analysis revealed a highly significant linkage
(lod score >5.0) between the disease and 10 markers of the chromosome 5q13-q14 region. Two recombination events allowed us
to refine the linked interval to 20 cM between the D5S650 and D5S618 markers. · Conclusion: Ophthalmological aspects of Wagner’s
disease appear to progress with age. Regular ophthalmological examination is important for detecting retinal abnormalities.
The gene involved in Wagner’s disease lies in a 20 cM interval on chromosome 5q13-q14.
Received: 30 June 1998 Revised version received: 5 October 1998 Accepted: 6 October 1998 相似文献
102.
Alan Balsam PhD RD Nicole Grant MS Beatrice L. Rogers PhD 《Journal of community health》1996,21(1):37-49
The nutritional status of persons with HIV and AIDS [PWAs] is constantly challenged throughout the progression of the illness. Home-delivered meals programs for PWAs are rapidly developing across the country to address this problem among the growing population of people with HIV infection and AIDS. This study examined client socio-demographic characteristics (sex, age, ethnicity), types of services offered by these programs, organizational and financial criteria, and characteristics of survey respondents.Data for this study was obtained from 15 of the 17 known home-delivered meals programs for PWAs in the United States through an original, cross-sectional survey instrument conducted by telephone interview between March 1994 and May 1994.Results from this study show an increase in the number of minority populations who participate in these programs (36% African-American and 12% Hispanic vs. 51% Caucasian), as well as women (17.2%) and children (7%). Geographic location was an important determinant for program eligibility. The number of meals served weekly varied greatly (from 510 to 12,600 per week). Other significant services included nutrition counselling, newsletters, and holiday-basket programs. Enhancing service-delivery systems was one of the more prevalent high-priority concerns cited, especially with regard to food quality and safety.These results show that these programs are catering increasingly to minority populations, women and children, and that they are expanding their services to meet the growing needs of their client populations. These findings suggest that there is a greater need for meals and other home-based services for persons living with HIV and AIDS.This research was supported by the Massachusetts Department of Public Health.He formerly was Director of Elder Health at the Massachusetts Department of Public Health, Boston, MA; he is a founder and serves on the Board of Directors of Community Servings 相似文献
103.
Résumé Cette recherche étudie les sujets conduits chaque jour, pendant six mois, à l'Infirmerie psychiatrique. Cette institution, unique en France, est placée sous la tutelle de la Préfecture de Police et répond, de façon assez spécifique, à la loi du 30 Juin 1838 concernant les malades mentaux. Les caractéristiques de ces sujets sont comparées à celles de la population générale dont ils sont issus. Cette comparaison met l'accent sur la sur-représentation des hommes, des groupes d'âge inférieur à 45 ans, et sur les situations de célibat, de divorce, de solitude, de déracinement et de milieu social défavorisé.
Summary A study was carried out of patients referred over a six months period to L'Infirmerie Psychiatrique in Paris: this facility is unique in France in that it is sponsored by the Department of Police primarily to meet forensic psychiatric requirements of the 1838 Act. The main characteristics of the patients were compared with those of the population from which they came. The comparison highlighted an over-representation of men under 45, the high proportion of the unmarried or divorced, the influence of isolation, uprooting and disadvantaged social status.相似文献
104.
Specific and saturable binding sites for [20-3H]phorbol 12,13-dibutyrate([3H]PDBu) were demonstrated in intact Friend erythroleukemiacells (FELC), in which inducible erythroid differentiation isreversibly inhibited by phorbol esters. The binding of [3H]PDButo intact cells was maximal within only 15 min of incubationat 37°C, after which there was a gradual decrease; bindingat 4°C however, was a slow process, requiring > 180 minfor maximal binding. A Scatchard analysis showed that the dissociationconstant for binding of [3H]PDBu is 8.3 nM; at saturation, 1.75x 105 molecules of [3H]PDBu are bound per cell. The bindingof [3H]PDBu is blocked by 12-O-tetradecanoyl phorbol-13-acetate,phorbol 12,13-didecanoate, mezerein, 4-O-methyl-12-O-tetradecanoylphorbol-13-acetate and resiniferatoxin, but not by phorbol or4-phorbol 12,13-didecanoate. There was, in general, a good correlationbetween the potency of these agents in inhibiting [3H]PDBu bindingand their activity in promoting tumors on mouse skin. Inducersof differentiation, such as hexamethylene bisacetamide, dimethylsulfoxide and butyric acid, as well as inhibitors of cell differentiation,dexamethasone and local anesthetics, did not significantly blockthe binding of [3H]PDBu to intact FELC. When FELC were inducedto differentiate with 4 mM hexamethylene bisacetamide (80% ofcells were benzidine-positive), a slight decrease (1020%)in the number of binding sites at saturation was seen, but thedissociation constant was not changed. When the cells were preculturedwith non-radioactive phorbol esters, a significant decreasein [3H]PDBu binding was observed, suggesting a homologous downregulation of phorbol ester receptors. Scatchard analysis indicatedthat the decrease in [3H]PDBu binding was due to a decreasein the number of binding sites and not to a change in affinity.Such specific phorbol ester binding sites might mediate a numberof biochemical and biological effects of phorbol esters on FELC. 相似文献
105.
Summary A series of 1 epidermoid and eight dermoid tumors with primary orbital location is reported on. The term cholesteatoma is inadequate to cover epidermoids, dermoids and inflammatory cholesteatomas.The features present in our series and in 81 similar cases collected from literature show that a long standing disaxiale proptosis, without impairment of ocular motility, is indicative of the tumouts under discussion. The X-ray finding of a clearcut patch of bone rarefaction with a marginal hyperostosis is also characteristic of these lesions.Radical surgery is mandatory; a subfrontal extradural approach to orbit is favoured.
Zusammenfassung Es wird über eine Serie von einem Epidermoid und acht Dermoiden mit primärer Lokalisation in der Orbita berichtet. Der Ausdruck Cholesteatom ist inadäquat, weil er Epidermoide, Dermoide und entzündliche Cholesteatome zusammenfaßt. Die klinischen Bilder der Fälle unserer Serie und von 81 ähnlichen Fällen aus der Literatur zeigen eine disaxiale Proptosis ohne Einschränkung der Augenbeweglichkeit und dies ist für diese Tumorgruppe charakteristisch. Die Röntgenbefunde zeigen eine scharf begrenzte Knochenusur mit Wand-Hyperostose. Radikale Chirurgie ist erforderlich. Eine subfrontale, extradurale Freilegung der Orbita wird von uns bevorzugt.相似文献
106.
Carla M van Herpen Maaike Looman Marijke Zonneveld Nicole Scharenborg Peter C de Wilde Louis van de Locht Matthias A W Merkx Gosse J Adema Pieter H de Mulder 《Clinical cancer research》2004,10(8):2626-2635
The objective of this Phase II study was to evaluate the pharmacodynamic and immune effects of intratumorally administered recombinant human interleukin-12 (IL-12) on regional lymph nodes, primary tumor, and peripheral blood. Ten previously untreated patients with head and neck squamous cell carcinoma were injected in the primary tumor two to three times, once/week, at two dose levels of 100 or 300 ng/kg, before surgery. We compared these patients with 20 control (non-IL-12-treated) patients. Toxicity was high, with unexpected dose-limiting toxicities at the 300 ng/kg dose level. Dose-dependent plasma IFN-gamma and IL-10 increments were detected. These cytokine levels were higher after the first injection than after the subsequent injections. A rapid, transient reduction in lymphocytes, monocytes, and all lymphocyte subsets, especially natural killer cells, was observed, due to a redistribution to the lymph nodes. In the enlarged lymph nodes of the IL-12-treated patients, a higher percentage of natural killer cells and a lower percentage of T-helper cells were found compared with control patients. The same pattern was detected in the infiltrate in the primary tumor. Real-time semiquantitative PCR analysis of peripheral blood mononuclear cells in the peripheral blood showed a transient decrease of T-bet mRNA. Interestingly, the peripheral blood mononuclear cells in the lymph nodes showed a 128-fold (mean) increase of IFN-gamma mRNA. A switch from the Th2 to a Th1 profile in the lymph nodes compared with the peripheral blood occurred in the IL-12-treated patients. In conclusion, in previously untreated head and neck squamous cell carcinoma patients, recombinant human IL-12 intratumorally showed dose-limiting toxicities at the dose level of 300 ng/kg and resulted in measurable immunological responses locoregionally at both dose levels. 相似文献
107.
Compliance with consensus recommendations for systemic therapy is associated with improved survival of women with node-negative breast cancer. 总被引:3,自引:0,他引:3
Nicole Hébert-Croteau Jacques Brisson Jean Latreille Michèle Rivard Nadia Abdelaziz Ginette Martin 《Journal of clinical oncology》2004,22(18):3685-3693
PURPOSE: The impact of consensus recommendations for systemic therapy on outcome of disease is unclear. We evaluated if compliance with guidelines for systemic adjuvant treatment is associated with improved survival of women with node-negative breast cancer. PATIENTS AND METHODS: The study population included women diagnosed with invasive node-negative breast cancer in Québec, Canada, in 1988 to 1989, 1991 to 1992, and 1993 to 1994. Information was collected by chart review, linkage with administrative databases, and queries to attending physicians. Guidelines from the 1992 St Gallen conference were used as standard of care. Survival was estimated by Kaplan-Meier and Cox proportional hazards analyses. RESULTS: Among 1,541 women, 358 died before December 1999. Median follow-up was 6.8 years. Seven-year event-free and overall survivals were 66% and 81%, respectively. Survival was 88%, 84%, and 74% in women at minimal, moderate, or high risk of recurrence. Virtually all women at minimal risk were treated according to the consensus (98.4% of 370). In comparison, adjusted hazard ratios of death were 1.0 (95% CI, 0.6 to 1.7) and 2.3 (95% CI, 1.3 to 4.0) among women at moderate risk treated according to the consensus or not, respectively. Among women at high risk, adjusted hazard ratios of death were 2.0 (95% CI, 1.4 to 2.8) and 2.7 (95% CI, 1.9 to 3.9), respectively. Both risk category (P <.0005) and compliance with guidelines (P <.0005) were independent significant predictors of survival. CONCLUSION: Treatment according to consensus recommendations is associated with improved survival of women with breast cancer in the community. Promoting the adoption of guidelines for treatment is an effective strategy for disease control. 相似文献
108.
BACKGROUND AND PURPOSE: There is still confusion in the choice of the molecular assays to predict the radiation response of human cells. The case of tumours appears to be particularly complex, may be because of their instability and heterogeneity. The aim of this study was to investigate quantitatively the relationships between DNA double-strand breaks (DSB) repair, chromatin relaxation and cellular radiosensitivity. Nineteen human tumour cell lines, representing a large spectrum of radiation responses and tissues, were examined. MATERIALS AND METHODS: Intrinsic radiosensitivity was quantified with surviving fraction at 2 Gy (SF2) as an endpoint. Standard and modified pulsed-field gel electrophoresis techniques were employed to assess DSB repair rate and chromatin relaxation. A cell-free assay was chosen to estimate DSB repair activity, independently of chromatin impairment. RESULTS AND CONCLUSIONS: Surviving fraction at 2 Gy (SF2) decreases linearly with the amount of unrepaired DSB and the extent of chromatin relaxation: one additional unrepaired DSB per cell or 1% chromatin decondensation produce a loss of about 1.5% surviving fraction. However, all the cell lines did not obey both correlations, suggesting that DSB repair and chromatin impairments contribute separately to increase the severity of DNA damage involved in cell lethality. Four cell lines groups showing different DSB repair and/or chromatin impairments were defined. Cell lines exhibiting both DSB repair defect and chromatin relaxation are the most radiosensitive. 相似文献
109.
110.
Thierry Andre Philippe Colin Christophe Louvet Erik Gamelin Olivier Bouche Emmanuel Achille Nicolas Colbert Catherine Boaziz Pascal Piedbois Nicole Tubiana-Mathieu Arnaud Boutan-Laroze Michel Flesch Marc Buyse Aimery de Gramont 《Journal of clinical oncology》2003,21(15):2896-2903
PURPOSE: This randomized, 2 x 2 factorial study compared a semimonthly (LVFU2) with a monthly (FULV) regimen of fluorouracil and leucovorin and 24 versus 36 weeks of each regimen as adjuvant treatment of patients with stage II (Dukes' B2) and III (Dukes' C) colon cancer. PATIENTS AND METHODS: LVFU2 was administered semi-monthly for 2 consecutive days as dl- or l-leucovorin (200 or 100 mg/m2, respectively) as a 2-hour infusion, followed by a 400 mg/m2 FU bolus and 600 mg/m2 of FU as a 22-hour continuous infusion. FULV was administered monthly for 5 consecutive days as a 15-minute infusion of dl- or l-leucovorin, followed by 400 mg/m2 of FU as a 15-minute infusion. RESULTS: A total of 905 patients were randomly assigned. The median follow-up was 41 months. Disease-free survival was similar between the LVFU2 and FULV groups (127 v 124 events; hazard ratio [HR] = 1.04; P =.74) and between 24 and 36 weeks of therapy (128 v 123 events; HR = 0.94; P =.63). Analysis of overall survival showed a slight excess in the number of deaths in LVFU2 compared with FULV (73 v 59), but this difference was not statistically significant (HR = 1.26; 95% confidence interval, 0.90 to 1.78; P =.18). The most commonly observed grade 3 to 4 toxicities were neutropenia, diarrhea, and mucositis. Toxicities were significantly lower in the LVFU2 group (all toxicities, P <.001). CONCLUSION: Our data confirm that LVFU2 is less toxic than FULV. At a median follow-up of 41 months, no statistically significant difference could be detected in disease-free or overall survival between the treatment groups or treatment durations. 相似文献