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We report the combination of sensorineural deafness with facial diplegia, ptosis and hypermobile joints. Observed in a sister and brother, comparison with other reports has failed to identify an established syndrome with this clinical profile. We propose that these siblings share a unique phenotype, representing a new autosomal recessive trait. 相似文献
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Hsu T Savaraji N Trizna Z Feun L Furlong C Schantz S Shirley L 《International journal of oncology》1993,3(5):823-826
Using the UV-mimetic mutagen 4-nitroquinoline-1-oxide (4NQO) to induce genetic damage in human cells (lymphoblastoid lines and primary cultures of peripheral blood samples), chromosome aberrations were induced by treating the cells with 4NQO at 1 X 10(-5) M for 24 h. The overwhelming majority of chromosome aberrations was of the chromatid (S + G2) type instead of the chromosome (G1) type. The most common chromatid aberrations were simple breaks, isochromatid breaks, and chromatid exchanges. When the number of chromatid breaks per cell value was used as a measurement for 4NQO sensitivity, lymphoblastoid cells from a xeroderma pigmentosum patient showed the highest sensitivity, followed by the cells of two melanoma patients and normal persons. These preliminary results suggest that 4NQO may be employed to develop an assay system as a biomarker for determining UV sensitivity in the human population. 相似文献
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Antonios Athanasiou Eleftherios Spartalis Mairead Hennessy Michael Spartalis Demetrios Moris Christos Damaskos Emmanouil Pikoulis 《Hepatobiliary & pancreatic diseases international : HBPD INT》2018,17(1):91-92
正To the editor:We read with great interest the article entitled "Comparative study of the effects of terlipressin versus splenectomy on liver regeneration after partial hepatectomy in rats" by Ulmer et al.[1].The aim of this study was to analyse the impact of terlipressin ver- 相似文献
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M. Lloyd S.D. Watmough S.V. O'Brien K. Hardy N. Furlong 《Research in social & administrative pharmacy》2021,17(9):1579-1587
BackgroundPrescribing errors are prevalent in hospital settings with provision of feedback recommended to support prescribing of doctors. Feedback on prescribing has been described as feasible and valued but limited by doctors, with pharmacists described as credible facilitators of prescribing feedback. Evidence supporting prescribing feedback has been limited to date. A formalised programme of pharmacist-led prescribing error feedback was designed and implemented to support prescribers.ObjectiveTo evaluate the impact of a prescribing feedback intervention on prescribing error rates and frequency of prescribing error severity and type.MethodProspective prescribing audits were undertaken across sixteen hospital wards in a UK teaching hospital over a five day period with 36 prescribers in the intervention group and 41 in the control group. The intervention group received pharmacist-led, individualised constructive feedback on their prescribing, whilst the control group continued with existing practice. Prescribing was re-audited after three months. Prescribing errors were classified by type and severity and data were analysed using relevant statistical tests.ResultsA total of 5191 prescribed medications were audited at baseline and 5122 post-intervention. There was a mean prescribing error rate of 25.0% (SD 16.8, 95% CI 19.3 to 30.7) at baseline and 6.7% (SD 9.0, 95% CI 3.7 to 9.8) post-intervention for the intervention group, and 19.7% (SD 14.5, 95% CI 15.2 to 24.3) at baseline and 25.1% (SD 17.0, 95% CI 19.8 to 30.6) post-intervention for the control group with a significant overall change in prescribing error rates between groups of 23.7% (SD 3.5, 95% CI, ?30.6 to ?16.8), t(75) = ?6.9, p < 0.05. The frequency of each error type and severity rating was reduced in the intervention group, whilst the error frequency of some error types and severity increased in the control group.ConclusionPharmacist-led prescribing feedback has the potential to reduce prescribing errors and improve prescribing outcomes and patient safety. 相似文献
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‘Sometimes,it's easier to write the prescription’: physician and patient accounts of the reluctant medicalisation of sleeplessness
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Mairead Eastin Moloney 《Sociology of health & illness》2017,39(3):333-348
The medicalisation of sleep is a rich and growing area of sociological interest. Previous research suggests that medicalisation is occurring within the context of physician office visits, but the inner workings remain unclear. This study is the first to provide perspectives on the office visit interaction from both sleepless patients (n = 27) and the physicians (n = 8) who treat them. Analyses of semi‐structured qualitative interviews reveal that sleep‐related conversations are typically patient‐initiated in routine office visits. Physicians and patients conceptualised insomnia as a symptom of another issue (depression), an everyday problem of living (stress) or the result of a natural life process (aging). Lack of sleep was not necessarily linked to daytime impairment. Even though sleep aids were routinely requested and prescribed, patients and physicians consistently expressed attitudes of reluctance toward the use of sedative hypnotics. I call this a case of ‘reluctant medicalisation’ and highlight the liminal space between pathology and normalcy inhabited by patients and physicians. I also build on recent work acknowledging the dynamics between macro and micro levels of medicalisation and illustrate the influence of multilevel ‘engines’ (consumerism, biotechnology, managed care and physicians) in patients’ and physicians’ accounts. A virtual abstract of this paper can be viewed at: https://youtu.be/7uLHOJPHF0I 相似文献
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Lindsey M. O’Brennan Catherine P. Bradshaw Michael J. Furlong 《School mental health》2014,6(2):125-136
Reducing student problem behavior remains a leading concern for school staff, as disruptive and aggressive behavior interferes with student achievement and the school climate. However, the multisystemic nature of schools makes it difficult for researchers and practitioners to identify factors influencing to students’ behavior. The current study examined student problem behavior through an ecological lens by taking into account individual (e.g., gender, ethnicity, prosocial behavior), classroom (e.g., class size, average classroom behavior), and school-level factors (e.g., location, school climate). Using data from 37 elementary schools, 467 classrooms, and 8,750 students, a series of hierarchical linear models were tested. Multilevel analyses revealed that while individual student characteristics had the largest influence on problem behavior, average prosocial behavior and concentration problems of students within the classroom, as well as teacher perceptions of the school climate significantly related to how students behaved. These findings support the use of classroom-based intervention programs to reduce student problem behavior. 相似文献