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The phenotype of the 4 p-- syndrome may be clinically distinguished from the one of the 5 p-- syndrome by the presence of fusion abnormalities of the median line. In the case reported, these abnormalities concerned a cleft palate, an iris coloboma and a fistula of the sacrum, in addition to an important hypotrophy and a severe mental retardation associated with epilepsy. 相似文献
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Pearlman RA Hsu C Starks H Back AL Gordon JR Bharucha AJ Koenig BA Battin MP 《Journal of general internal medicine》2005,20(3):234-239
OBJECTIVE: To obtain detailed narrative accounts of patients' motivations for pursuing physician-assisted suicide (PAS). DESIGN: Longitudinal case studies. PARTICIPANTS: Sixty individuals discussed 35 cases. Participants were recruited through advocacy organizations that counsel individuals interested in PAS, as well as hospices and grief counselors. SETTING: Participants' homes. MEASUREMENTS AND RESULTS: We conducted a content analysis of 159 semistructured interviews with patients and their family members, and family members of deceased patients, to characterize the issues associated with pursuit of PAS. Most patients deliberated about PAS over considerable lengths of time with repeated assessments of the benefits and burdens of their current experience. Most patients were motivated to engage in PAS due to illness-related experiences (e.g., fatigue, functional losses), a loss of their sense of self, and fears about the future. None of the patients were acutely depressed when planning PAS. CONCLUSIONS: Patients in this study engaged in PAS after a deliberative and thoughtful process. These motivating issues point to the importance of a broad approach in responding to a patient's request for PAS. The factors that motivate PAS can serve as an outline of issues to explore with patients about the far-reaching effects of illness, including the quality of the dying experience. The factors also identify challenges for quality palliative care: assessing patients holistically, conducting repeated assessments of patients' concerns over time, and tailoring care accordingly. 相似文献
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OBJECTIVE: The study objective was to obtain data on interpretation, including intra and interobserver variation and action taken for a given line tip location, for a series of radiographs demonstrating neonatal long lines. METHODS: Nineteen radiographs taken to identify line tip position were digitized and published on an internet site. One film was included twice in order to assess intraobserver variation giving a total of 20 images. Fourteen used radio-opaque contrast and five no contrast. Australian and New Zealand Neonatal Network members and National Women's Hospital NICU staff were invited to participate in the study. For each radiograph, participants were asked to identify if long line tip could be identified, the likely anatomical position and desired action. Interobserver agreement was assessed by the maximum proportion of agreement per radiograph and by the number of different options selected. Intraobserver agreement was assessed by comparing the two reports from the duplicate radiograph. RESULTS: Twenty-seven responses were received. Overall, 50% of the reports stated that the long line tips could be identified. The most commonly reported position was in the right atrium (31%) and most commonly reported action was to pull the line back (53%). The median agreement of whether the line was seen was 68%, agreement on position 62% and agreement on action 86%. On analysis of intraobserver variability, from the identical radiographs, 27% of respondents differed on whether the line tip could be visualized. CONCLUSION: Interobserver and intraobserver reliability was poor when using radiographs to assess long line tips. The major determinant of line repositioning was the perceived location. 相似文献
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Jones B Peake K Morris AJ McCowan LM Battin MR 《The Australian & New Zealand journal of obstetrics & gynaecology》2004,44(6):558-561
AIMS: To review the demographic characteristics, antecedents and outcome for early neonatal Escherichia coli sepsis. Secondary aims were to identify antenatal antibiotic use and to review the antimicrobial susceptibility. METHODS: A retrospective chart review was performed for all infants with a positive culture for E. coli from either blood or CSF samples obtained between January 1998 and October 2002. RESULTS: Nineteen liveborn infants with early onset sepsis and one stillborn baby with a positive maternal blood culture for E. coli were identified. Pregnancy complications included multiple pregnancy in five (25%), preterm rupture of membranes 10 (50%) and maternal urinary tract infection in five (25%). Eighteen of the cases were born preterm and two at term. The mortality was 8/20 (40%), and for nine cases with developmental outcome data available, 67% were within normal limits and 33% were abnormal. Of the 20 E. coli isolates 11 (55%) were resistant to amoxycillin and 1 (5%) was resistant to gentamicin. CONCLUSIONS: Infants with early onset E. coli sepsis had a poor outcome with high mortality and a third of the survivors manifesting neurodevelopmental impairment. Although amoxycillin resistance is common, there is a low prevalence of gentamicin resistance in local isolates. 相似文献
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Sclerema Neonatorum following hypothermia 总被引:3,自引:0,他引:3