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A 5-year-old boy presented with history of failure to thrive from infancy. There was a history of one sibling death due to similar problems and history of severe abortions in the mother. Routine examination of peripheral smear revealed more than 50% acanthocytes. Based on this tests were streamlined to doing lipid profile and Lipo protein electrophoresis which revealed hypolipidemia and absent Β hypo protein band. Jejuna) mucosal biopsy confirmed the diagnosis of A Beta Lipo proteinemia which revealed lipid laden enterocytes. This case illustrates the importance of simple tests like peripheral smear examination in streamlining further tests in the diagnosis of major diseases.  相似文献   
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Ruggieri  PM; Laub  GA; Masaryk  TJ; Modic  MT 《Radiology》1989,171(3):785-791
The technique and feasibility of magnetic resonance (MR) angiography of intracranial vessels were studied in 35 healthy volunteers. Variations in image orientation, repetition time (TR), and flip angle were evaluated to determine their effects on flow-related enhancement. Gradient modifications--including echo time (TE), motion compensation, bandwidth, and field of view--were also studied in an effort to reduce motion-induced phase shifts. Results indicated that a FISP (fast imaging with steady precession) sequence with a TR of 50 msec, TE of 15 msec, velocity compensation in the read and section-select directions, acceleration compensation in the read direction, anisotropic volume, and a 1.25-mm partition thickness produced three-dimensional angiographic MR images that were accurate and reproducible in the depiction of the major intracranial vessels. Difficulties with field of view, persistent signal void secondary to higher-order motion, and spatial resolution remain major problems requiring additional study.  相似文献   
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We studied the relationship between arterial carbon dioxide tension (PaCO2) and fresh gas flow (FGF) during use of the Bain breathing circuit for Caesarean section anaesthesia. Thirty-one patients undergoing Caesarean section were anaesthetised using the Bain circuit with intermittent positive pressure ventilation. The PaCO2 were measured at FGF of 70 ml X kg-1 X min-1, 80 ml X kg-1 X min-1, and 100 ml X kg-1 X min-1. The FGF requirement to maintain a given PaCO2 during Caesarean section anaesthesia is the same as the requirements for nonpregnant subjects, despite the increase in carbon dioxide production associated with pregnancy. This is probably because the total FGF determined by body weight and given during Caesarean section anaesthesia is 15-20 per cent higher than nonpregnant levels, due to the weight gain associated with pregnancy. A FGF of 100 ml X kg-1 of pregnant weight/min maintains PaCO2 of 4.44 kPa predelivery, which is in the desirable range of PaCO2 during Caesarean section.  相似文献   
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FM sonography - a signal-processing technique that uses frequency and phase information as well as amplitude data - shows promise in evaluation of patients with diffuse liver disease. In a prospective blinded review of 37 patients with biopsy-proved liver disease and 42 healthy volunteers, FM sonography was clearly superior to traditional amplitude-based (AM) sonography in distinguishing healthy from diseased subjects. Statistically significant differences were seen in accuracy (FM, 98.7%; AM, 84.8%), sensitivity (FM, 97.3%; AM, 70.3%), and negative predictive value (FM, 97.7%; AM, 78.8%). Our data also suggest that current FM sonographic techniques cannot differentiate among histologic findings associated with different hepatic parenchymal abnormalities. It is unclear, therefore, whether FM imaging can reduce the numbers of patients who require biopsy for diagnosis or the frequency of biopsy procedures in patients with known disease.  相似文献   
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Objective . To describe the importance of migraine in Santiago, Chile, by analyzing its prevalence, clinical features and impact by age, gender and socioeconomic status. Methods . In 1993, a representative sample of 1,540 adults of the province of Santiago were interviewed using a standard questionnaire. A total of 1,385 (89.9%) subjects responded to the survey. Initially, a designated member of each household responded to the questionnaire. Subsequently, each household member with headaches was asked to respond to questions about severity, frequency, location, duration, associated symptoms and impact in work and social activities of their most frequent headaches. Migraine diagnoses were determined in accordance with the International Headache Society (IHS) criteria of 1988. Results. Recurrent headaches in the past year were found in 516 (36.82%) respondents, 145 (28.1%) males and 371 (71.9%) females. Total prevalence of migraine was found to be 7.3% (95%, CI 5.9–8.6); 11.9% (95% CI 9.6–14.2) in females and 2.0% (95% CI 0.9–3.0) in males. Overall, migraine constituted 19.6% (101/516) of all headaches reported in this sample. The prevalence did not vary significantly by age groups or socioeconomic status (SES). Migraine with aura had an overall prevalence of 3.5% (CI 0.8–7.1), and was significantly more frequent in females. In 60–70% of cases the attacks lasted 2–6 h and the frequency was 3.3 and 3.4 per month in females and males respectively. Both males and females reported significantly high percentages of attacks during work. Conclusions . Migraine prevalence in a sample of adults of Santiago is similar to that reported in previous studies using IHS criteria. Women of all socioeconomic levels are at an increased risk.  相似文献   
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