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排序方式: 共有940条查询结果,搜索用时 359 毫秒
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KJ Champion C Bunag AL Estep JR Jones CH Bolt RC Rogers KA Rauen DB Everman 《Clinical genetics》2011,79(5):468-474
Champion KJ, Bunag C, Estep AL, Jones JR, Bolt CH, Rogers RC, Rauen KA, Everman DB. Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome. BRAF, the protein product of BRAF, is a serine/threonine protein kinase and one of the direct downstream effectors of Ras. Somatic mutations in BRAF occur in numerous human cancers, whereas germline BRAF mutations cause cardio‐facio‐cutaneous (CFC) syndrome. One recurrent somatic mutation, p.V600E, is frequently found in several tumor types, such as melanoma, papillary thyroid carcinoma, colon cancer, and ovarian cancer. However, a germline mutation affecting codon 600 has never been described. Here, we present a patient with CFC syndrome and a de novo germline mutation involving codon 600 of BRAF, thus providing the first evidence that a pathogenic germline mutation involving this critical codon is not only compatible with development but can also cause the CFC phenotype. In vitro functional analysis shows that this mutation, which replaces a valine with a glycine at codon 600 (p.V600G), leads to increased ERK and ELK phosphorylation compared to wild‐type BRAF but is less strongly activating than the cancer‐associated p.V600E mutation. 相似文献
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Chronic abdominal pain is not uncommon and can be difficult to manage. We present the case of a 17-year-old man with a 4-year history of chronic abdominal pain. The patient had previously undergone abdominal surgery by way of laparoscopic appendicectomy and right nephrectomy for a mal-rotated kidney. The patient continued to suffer right-sided abdominal pain which was not controlled by analgesia. We report the successful implantation of a right D11 intercostal nerve stimulator to control the patient’s pain. This is the first report of an implantable intercostal nerve stimulator to control intractable chronic abdominal pain. 相似文献
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Ivana Y Kuo Anthie Ellis Victoria AL Seymour Shaun L Sandow Caryl E Hill 《Journal of cerebral blood flow and metabolism》2010,30(6):1226-1239
Although dihydropyridines are widely used for the treatment of vasospasm, their effectiveness is questionable, suggesting that other voltage-dependent calcium channels (VDCCs) contribute to control of cerebrovascular tone. This study therefore investigated the role of dihydropyridine-insensitive VDCCs in cerebrovascular function. Using quantitative PCR and immunohistochemistry, we found mRNA and protein for L-type (CaV1.2) and T-type (CaV3.1 and CaV3.2) channels in adult rat basilar and middle cerebral arteries and their branches. Immunoelectron microscopy revealed both L- and T-type channels in smooth muscle cell (SMC) membranes. Using patch clamp electrophysiology, we found that a high-voltage-activated calcium current, showing T-type channel kinetics and insensitivity to nifedipine and nimodipine, comprised ∼20% of current in SMCs of the main arteries and ∼45% of current in SMCs from branches. Both components were abolished by the T-type antagonists mibefradil, NNC 55-0396, and efonidipine. Although nifedipine completely blocked vasoconstriction in pressurized basilar arteries, a nifedipine-insensitive constriction was found in branches and this increased in magnitude as vessel size decreased. We conclude that a heterogeneous population of VDCCs contributes to cerebrovascular function, with dihydropyridine-insensitive channels having a larger role in smaller vessels. Sensitivity of these currents to nonselective T-type channel antagonists suggests that these drugs may provide a more effective treatment for therapy-refractory cerebrovascular constriction. 相似文献
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S Kanungo BK Sah AL Lopez JS Sung AM Paisley D Sur JD Clemens G Balakrish Nair 《Bulletin of the World Health Organization》2010,88(3):185-191
Objective
To more accurately define the annual incidence of cholera in India, believed to be higher than reported to the World Health Organization (WHO).Methods
We searched the biomedical literature to extract data on the cases of cholera reported in India from 1997 to 2006 and compared the numbers found to those reported annually to WHO over the same period. The latter were obtained from WHO’s annual summaries of reported cholera cases and National health profile 2006, published by India’s Central Bureau of Health Intelligence.Findings
Of India’s 35 states or union territories, 21 reported cholera cases during at least one year between 1997 and 2006. The state of West Bengal reported cases during all 10 years, while the state of Maharashtra and the union territory of Delhi reported cases during nine, and Orissa during seven. There were 68 outbreaks in 18 states, and 222 038 cases were detected overall. This figure is about six times higher than the number reported to WHO (37 783) over the same period. The states of Orissa, West Bengal, Andaman and Nicobar Islands, Assam and Chhattisgarh accounted for 91% of all outbreak-related cases.Conclusion
The reporting of cholera cases in India is incomplete and the methods used to keep statistics on cholera incidence are inadequate. Although the data are sparse and heterogeneous, cholera notification in India is highly deficient. 相似文献190.
Thompson Martin C Kaiser Jones J Stotts NA Sivarajan Froelicher E 《The journal of nutrition, health & aging》2008,12(1):45-48
Objectives: To investigate community-living older adult’s understanding of normal and low weight.Design: Cross-sectional exploratory.Setting: Three counties in the Western United States.Participants: Community-living older adults (n=130), aged 65 and older, with a body mass index (BMI) <24 kg/m2.Measument: Interviews, using semi-structured questions, were analyzed using content analysis.Results: Only 22% (n=28) of the participants reported knowing the normal weight range for their age, and even fewer (2%, n=3) knew
what a low weight was for their age. Most (n=125) reported receiving no information from their health care provider (HCP)
on normal and low weight for their age.Conclusion: The majority of the participants were unaware that they were at-risk for poor nutritional status and low weight; they reported
receiving little information from their HCP on preventing weight loss. Since most community-living older adults do not know
what normal or low weight is for their age, they would benefit from receiving this information from their HCP.Rationale: Knowledge of older adults’ views on normal and low weight may lead to early identification of weight problems and improve
an older adult’s nutritional status.
Support: National Institutes of Health, National Institutes of Nursing Research, Ruth L. Kirschstein National Research Service
Award Individual Fellowship, Grant No. NR009165-01. 相似文献