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Osteogenesis imperfecta is a rare heterozygous disorder of collagen production. It is characterized by osteopenia, blue sclera, bone deformities, and progressive hearing loss. Some infants are diagnosed prenatally, whereas others are diagnosed much later in life. This article provides an overview of the disorder and discusses the etiologic origins of the syndrome. A guide for a systematic physical assessment is presented to enhance the early recognition of the disorder. Pictorial examples are provided to enhance the understanding of the wide spectrum of osteogenesis imperfecta. A discussion on treatment and clinical implications, with an emphasis on family support, is provided. 相似文献
994.
Lorraine R Buis Timothy A Poulton Robert G Holleman Ananda Sen Paul J Resnick David E Goodrich LaVaughn Palma-Davis Caroline R Richardson 《BMC public health》2009,9(1):331
Background
Engaging in regular physical activity can be challenging, particularly during the winter months. To promote physical activity at the University of Michigan during the winter months, an eight-week Internet-mediated program (Active U) was developed providing participants with an online physical activity log, goal setting, motivational emails, and optional team participation and competition. 相似文献995.
Lorraine R. Reitzel Carlos A. Mazas Ludmila Cofta‐Woerpel Yisheng Li Yumei Cao Michael S. Businelle Paul M. Cinciripini David W. Wetter 《Addiction (Abingdon, England)》2010,105(5):928-936
Objectives Direct and mediated associations between subjective social status (SSS), a subjective measure of socio‐economic status, and smoking abstinence were examined during the period of acute withdrawal among a diverse sample of 421 smokers (33% Caucasian, 34% African American, 33% Latino) undergoing a quit attempt. Methods Logistic regressions examined relations between SSS and abstinence, controlling for socio‐demographic variables. Depression, stress, positive affect and negative affect on the quit day were examined as potential affective mediators of the SSS‐abstinence association, with and without adjusting for pre‐quit mediator scores. Results SSS predicted abstinence to 2 weeks post‐quit. Abstinence rates were 2.6 (postquit week 1) and 2.4 (postquit week 2) times higher in the highest versus the lowest SSS quartile. Depression and positive affect mediated the SSS–abstinence relationships, but only depression maintained significance when adjusting for the baseline mediator score. Conclusions Among a diverse sample of quitting smokers, low SSS predicted relapse during acute withdrawal after controlling for numerous covariates, an effect accounted for partially by quit day affective symptomatology. Smokers endorsing lower SSS face significant hurdles in achieving cessation, highlighting the need for targeted interventions encompassing attention to quit day mood reactivity. 相似文献
996.
Alejandra A. Valenzuela Curtis W. Archibald Ben Fleming Lorraine Ong Brett O'Donnell John Crompton J 《Orbit (Amsterdam, Netherlands)》2013,32(2-3):153-159
Purpose: To review the clinical features, treatment, outcome and survival of metastatic tumors of the orbit. Materials and Methods: Retrospective, non-comparative, chart review of 80 patients with orbital metastasis treated in four tertiary orbital centres in Australia. Results: The study included 80 patients of which, 44 were male with a mean age of 60 years. Orbital involvement commonly presented late in a multisystemic disease; however, the orbit was the first presentation in 15% of the cases. Diplopia (48%), pain (42%), and visual loss (30%) were the commonest symptoms at presentation; whereas proptosis (63%), strabismus (62%), and visual loss (41%) were the most frequent clinical signs. Computed tomography commonly showed a solid enhancing mass (42 cases) located within the orbital fat (43%), or enlarging an extraocular muscle (28%). Breast carcinoma (29%), melanoma (20%), and prostatic cancer (13%) were the most frequent histological types. Treatment was often multi-disciplinary and modalities included radiotherapy, chemotherapy, hormone therapy, surgery, and immunotherapy. Survival was limited to 1.5 years after diagnosis independent of the histological type, with 29% of patients alive after 17 months follow-up. Conclusions: A high index of suspicion and appropriate intervention with histological diagnosis can help in the management and quality of life in patients with metastatic orbital disease. Overall survival is limited and we encountered statistical limitations proving differences in the survival based on the sub-type of primary tumour involved. Metastatic orbital melanoma presented a higher incidence when compared with previous studies, probably due to the increase frequency of skin found in the Australian population. 相似文献
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998.
Marked Intratumoral Heterogeneity of the Proto-Oncogene Her-2/neu Determined by Three Different Detection Systems 总被引:2,自引:0,他引:2
Pertschuk LP Axiotis CA Feldman JG Kim YD Karavattayhayyil SJ Braithwaite L 《The breast journal》1999,5(6):369-374
Abstract: It is customary to submit only one portion of a breast cancer to determine if there is amplification or overexpression of the proto-oncogene HER-2/ neu. In routine studies of the expression of neu in breast cancer, however, we noted discrepancies in intratumoral positivity. To investigate this phenomenon further, multiple tumor specimens (129 samples) from 41 women with breast cancer were examined. Forty cases were analyzed for neu amplification by slot blot assay and 18 with fluorescent in situ hybridization. Neu overexpression was determined using four different specific antibodies. In more than 50% of cases there were discrepancies in results between the tissue blocks examined. This was evident in both inter- and intra-assay comparisons. It is concluded that intratumoral heterogeneity of neu amplification/overexpression in breast cancer exists to a far greater degree than previously recognized and could be a responsible factor for conflicting published data regarding neu 's prognostic significance. Examination of only one tumor sample may not give a true indication of either amplification or overexpression of this oncogene. 相似文献
999.
Webster LK Olver IN Stokes KH Sephton RG Hillcoat BL Bishop JF 《Cancer chemotherapy and pharmacology》2000,45(1):55-58
This study investigated the pharmacokinetics and activity of gallium nitrate in non-small cell lung cancer when 700 mg/m2 was given as a 30-min infusion with prehydration every 2 weeks. Gallium was measured in plasma and urine using flameless
atomic absorption spectrophotometry, and pharmacokinetics of total and ultrafilterable gallium were calculated. Twenty-five
patients with non-small cell lung cancer received 1–12 (median 2) courses of gallium nitrate every 2 weeks. Of 21 patients
evaluable for response, 1 partial response was recorded, 4 patients had stable disease, and 16 had progressed. The most serious
toxicities were renal impairment and optic neuritis. Hypocalcaemia was recorded in 3 patients. The mean Cmax was 15.2 ± 3.1 μg/ml (range 9.5–21.2). Most gallium remained ultrafilterable for the first 10 h, after which plasma protein
binding increased, and at 48 h only 11% was present as ultrafilterable gallium. The elimination profiles of both total and
ultrafilterable gallium were biphasic, and the distribution phase consisted of ultrafilterable gallium, with a distribution
half-life of 1.4 h. Total gallium plateaued at 1.9 μg/ml at between 8 and 12 h, and the estimated elimination half-life was
63 h. The elimination half-life of ultrafilterable gallium was 16.5 h. Inter- and intra-patient variability in pharmacokinetics
was minimal. A mean of 50 ± 14% of the gallium dose was excreted in the urine within 48 h. A short infusion of gallium nitrate
achieving high peak plasma concentrations results in little efficacy in non-small cell lung cancer.
Received: 5 March 1999 / Accepted: 24 May 1999 相似文献
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