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排序方式: 共有260条查询结果,搜索用时 22 毫秒
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BACKGROUND: Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is a common disorder of fatty acid oxidation in north west Europe. It is very variable in its clinical consequences and is believed to be considerably underdiagnosed. OBJECTIVE: To investigate the diagnosis and outcome of MCAD deficiency in the UK. METHOD: A prospective surveillance study through the British Paediatric Surveillance Unit. RESULTS: Of 62 affected individuals identified, 57 were from England, giving an incidence of 4.5 cases/100,000 births. Forty six cases presented with an acute illness (10 of whom died), 13 cases were identified because of family history, and three for other reasons. Six of the survivors were neurologically impaired. CONCLUSIONS: Despite increased clinical awareness, the mortality and morbidity from MCAD deficiency remain high. The frequency and severity of the disease support the case for the introduction of universal neonatal screening in England and Scotland. 相似文献
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Simon JH; Foster TH; Ketonen L; Totterman S; Szumowski J; Kido DK; Manzione JV Jr; Joy SE 《Radiology》1989,172(3):771-775
A decrease in the magnetic resonance (MR) imaging bandwidth can be used to increase the signal-to-noise ratio (S/N) at constant imaging time or to maintain the S/N for reduction of imaging time. The effect of bandwidth reduction from the default value of 16 kHz to 8 kHz was evaluated prospectively in 50 patients referred for MR imaging of the head. On intermediate (2,000/30 [repetition time msec/echo time msec]) and more T2-weighted (2,000/90) studies, there were no definite missed diagnoses and no diagnostically important changes in lesion characteristics when the reduced-bandwidth technique was used to obtain half- or quarter-time studies, excluding differences attributable to unintentional changes in patient position between image acquisitions. Chemical shift misregistration artifacts associated with reduced bandwidth are easily recognized with experience and do not interfere with diagnosis, as the artifacts occur in characteristic locations and diminish in most anatomic locations with increasing echo time. This study suggests the feasibility of reduced-bandwidth techniques in clinical MR imaging of the head at high field strength to achieve an increased S/N, to decrease imaging time, or to obtain images in additional projections. 相似文献
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Radiation tolerance of the cervical spinal cord 总被引:2,自引:0,他引:2
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MEDLINE contains well over 14 000 papers revealed by a search using keywords 'oral squamous cell cancer' or 'oral squamous cell carcinoma', over 27 000 using 'oral carcinoma' and over 48 000 using the keywords 'oral cancer'. It is difficult to see how clinicians could keep abreast of such a subject. This paper attempts to help by providing an overview of the aetiopathogenesis of oral squamous cell carcinoma (OSCC), discussing changes in epidemiology and increasing awareness of the wide range of risk factors, emphasising the genetic background to cancer susceptibility and the genetic changes associated with progression to OSCC and highlighting clinical implications. 相似文献
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