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131.
The suspicion of a diagnosis of Rett syndrome (RTT) is based on clinical criteria that are often not present in the first two stages of the disease, as many of its symptoms will appear at a later age. This sometimes postpones the genetic diagnosis and an early clinical intervention. We present the case of 19-months-old girl who came to the consultation because of an arrest of psychomotor development noticed 5 months earlier without change in sleep pattern, behavior, or social communication. In the observation of 1 hour videotape, she presented subtle stereotypic movements of the face and hands as well as repetitive dystonic posturing of her limbs. A genetic test confirmed the diagnosis of RTT, showing a truncating mutation in the MECP2 gene (R270X). This case confirms that stereotypic movement anomalies, albeit infrequent and subtle, are already present before the regression stage and while maintaining prehension and that, in addition, repetitive dystonic postures may occur. Recognition of these early movement disorders will improve clinicians' ability to perform an earlier diagnosis of RTT. 相似文献
132.
133.
Mandeep R. Mehra Patricia A. Uber Ananth Prasad Robert L. Scott Myung H. Park 《American journal of transplantation》2005,5(5):1137-1140
To identify tobacco recidivism among 86 heart transplant recipients who were smokers but demonstrated compliance with a smoking cessation program pre-transplant, we used a questionnaire and randomly tested urine for nicotine and its by-products. In 36 patients, we also evaluated circulating levels of HS-CRP, homocysteine and MPV. Twenty-eight (32.5%) of 86 patients met our definition for tobacco exposure. In this cohort, 28 (32.5%) of 86 patients met our definition for tobacco exposure. Of these 28, 12 patients self-reported tobacco use and demonstrated biochemical verification; 14 patients demonstrated only biochemical evidence of significant tobacco exposure; 2 patients self-reported tobacco use but did not demonstrate biochemical positivity. Smoking cessation within 6 months of transplantation (r = 0.52) and time post-transplantation (r = 0.43) were independent predictors for recidivism of tobacco use, p < 0.01. No differences in HS-CRP, homocysteine and MPV levels were noted among the groups. Our investigation demonstrates a high rate of tobacco recidivism among heart transplant recipients, yet few admit to it. The adverse effects of tobacco do not appear to be directly modulated by an effect on athero-thrombotic risk markers. 相似文献
134.
Greg J. Siegle Patricia M. Moore Michael E. Thase 《Cognitive therapy and research》2004,28(5):645-668
Rumination has been associated with depression and negative health effects. Yet measures of rumination appear to index multiple constructs that may be differentially related to clinical phenomena. To clarify this literature, we explored convergence and divergence among self-report measures of rumination in 349 undergraduates, 59 depressed adults, 81 healthy adults, and 15 never-depressed adults with Systemic Lupus Erythematosis (SLE). Results suggested there are separate constructs labeled rumination with different relationships to depression. Yet, aggregate measures index a central construct. Depressed individuals ruminated more, across measures, than individuals with SLE, who ruminated more than healthy individuals; this relationship was mediated by dysphoria. Thus, administering multiple rumination measures and attending to constructs assessed by rumination measures appears important in clinical studies. 相似文献
135.
Background: To assist optometrists to deliver care more efficiently and effectively, in 1995 Optometrists Association Australia decided to develop standards that would assist optometrists in better managing their practices. Existing practice management standards for health professionals were thought to be either not specific enough for optometric practice or to have shortcomings in the context of optometric practice in Australia. Methods: Following a literature search, material previously developed by Optometrists Association Australia to assist practitioners with management of their practices and standards from other professions were used to assist with the development of a draft set of standards for optometric practices in Australia. Successive drafts were circulated for comment to optometrists in practice, non‐optometrists with experience in the development of practice standards for other health professions and to Australian General Practice Accreditation Limited. The comments were used to refine the standards and the accreditation guidelines to their final form. Results: Optometric Practice Standards suitable for use in a practice accreditation program were developed. The standards comprise seven sections—Practice administration, Quality assurance, Rights and needs of the patient, Practice services, Practice facilities, Communication and Patient records. These sections are divided into criteria that provide the detail of the requirements of the standard. Indicators describing how criteria can be assessed accompany the criteria. 相似文献
136.
Keloid fibroblast responsiveness to epidermal growth factor and activation of downstream intracellular signaling pathways. 总被引:8,自引:0,他引:8
Latha Satish Mary Babu Kien T Tran Patricia A Hebda Alan Wells 《Wound repair and regeneration》2004,12(2):183-192
Keloids, which overgrow the boundaries of the original injury, represent aberrations in the fundamental process of wound healing that include over-abundant cell in-migration, cell proliferation, and inflammation, as well as increased extracellular matrix synthesis and defective remodeling. To understand the key events that result in the formation of these abnormal scars would open new avenues for better understanding of excessive repair, and might provide new therapeutic options. We examined epidermal growth factor receptor (EGFR)-induced cell motility in keloid fibroblasts, as this receptor initiates cell migration during normal wound repair. We show that keloid fibroblasts respond to EGF-induced cell migration but the response is somewhat diminished compared to normal adult fibroblasts (approximately 30% reduced); the mitogenic response was similarly blunted (approximately 5% reduced). Keloid fibroblasts express near normal levels of EGFR (82%), but show a much more attenuated activation of EGFR itself and the motility-associated phospholipase C-gamma. This was reflected in part by rapid loss of EGFR upon exposure to EGF. Interestingly, while extracellular signal-regulated kinase/mitogen-activated protein kinase (ERK-MAPK) activation was relatively robust in keloid fibroblasts, the downstream triggering of the motility-associated calpain activity was blunted. This was reflected by high cell-substratum adhesiveness in the keloid fibroblasts. Thus, the blunted migratory response to EGF noted in keloid fibroblasts appears due to limited activation of two important biochemical switches for cell motility. 相似文献
137.
138.
Debbie Ehrmann Feldman Mirella de Civita Patricia L. Dobkin Pete Malleson Garbis Meshefedjian CiarÁn M. Duffy 《Arthritis care & research》2007,57(2):226-233
Objective
To document perceived adherence to treatment (taking medications and performing exercises) in patients with juvenile idiopathic arthritis (JIA) over a 1‐year period and to identify related factors.Methods
We surveyed parents of patients with JIA at the Montreal Children's Hospital and British Columbia's Children's Hospital in Vancouver. Parents were asked to respond to a series of questionnaires every 3 months over a 12‐month period. Perceived adherence was evaluated on a 100‐mm visual analog scale (VAS) in the Parent Adherence Report Questionnaire (PARQ). Parental coping, distress, child function, disease severity and duration, perceived helpfulness of treatment, problems encountered, and sociodemographic data were also assessed.Results
The mean age of our sample of 175 children was 10.2 years; mean age at diagnosis was 6.1 years and mean disease duration was 4.1 years. Perceived adherence to medications was consistently high, with average adherence at baseline, 3, 6, 9, and 12 months being 86.1, 91.7, 90.4, 92.0, and 88.8, respectively, on the PARQ VAS. Perceived adherence to exercise was lower but remained steady, with corresponding means of 54.5, 64.1, 61.2, 63.0, and 54.3, respectively. Using generalized estimating equation analysis, factors associated with higher perceived adherence to medications included perceived helpfulness of medications and lower disease severity; those associated with higher perceived adherence to exercise were younger age of the child, child involvement in responsibility for treatment, and higher perceived helpfulness of the treatment.Conclusion
Belief in helpfulness of treatment is associated with higher parental perceived adherence to treatment. 相似文献139.
140.
Davicino Roberto Patricia Micucci Turner Sebastian Ferraro Graciela Claudia Anesini 《Basic & clinical pharmacology & toxicology》2010,106(1):38-44
Abstract: Limonene is a monoterpene present in citrus fruit and is used as flavouring agents of foods. It was shown that monoterpenes possess antioxidant activity. Previously, it was demonstrated that limonene exerts anti‐proliferative action on a lymphoma cell line without modifying normal lymphocyte viability. H2O2 has a modulator role in cell proliferation. In the present study, the effect of limonene on normal lymphocytes proliferation and its relation with H2O2 level modulation was analysed, evaluating its effect on the activity of cell antioxidant enzymes, such as catalase, peroxidase and superoxide dismutase. Limonene exerted a biphasic effect on cell proliferation; the increase in cell proliferation was related to the decrease in H2O2 level by the increase in catalase and peroxidase activities. Moreover, limonene protected the cells to the oxidative stress induced by exogenous addition of H2O2. In view of these results, it is possible that limonene could protect normal lymphocytes from diseases related to oxidative stress, including cancer, but further research is necessary to establish the role of limonene as a potential antioxidant that can effectively protect lymphocytes from oxidative stress and mitochondrial dysfunction. 相似文献