The international collaborative study of maternal phenylketonuria: status report 1994

Neonatal screening for phenylketonuria (PKU) has created a problem as females with PKU are reaching child-bearing age. Surveys have revealed that maternal phenylalanine blood concentrations greater than 1200 μmol/l are associated with fetal microcephaly, congenital heart defects and intrauterine growth retardation. It is estimated that as many as 3000 hyperphenylalaninemic females may be at risk of producing these fetal abnormalities. To examine this problem, the international maternal PKU collaborative study was developed to evaluate the efficacy of a phenylalanine-restricted diet in reducing fetal morbidity. Preliminary findings have indicated that phenylalanine restriction should begin before conception for females with PKU planning a pregnancy. Dietary control should maintain maternal blood phenylalanine levels between 120 and 360 μmol/l and should provide adequate energy, protein, vitamin and mineral intake. Pregnant hyperphenylalaninemic females who achieved metabolic control after conception or by the 10th week of pregnancy had a better offspring outcome than anticipated. The results of 402 pregnancies are reviewed.     

Association of achalasia and pulmonary Mycobacterium fortuitum infection

A case of achalasia complicated by Mycobacterium fortuitum pulmonary infection and empyema is reported. This association has been documented in the medical literature. Possible mechanisms explaining this association are discussed.     

Bronchopulmonary dysplasia: radiographic appearance in middle childhood

Chest radiographs were compared for three groups of children 8-9 years old: 23 survivors of bronchopulmonary dysplasia (BPD), 33 survivors of hyaline membrane disease without BPD, and 35 survivors of premature birth without neonatal respiratory problems. Only four children in the second group and three in the third had abnormal lungs. Linear shadows, apparently representing strands of fibrosis or deep pleural fissuring, were seen more frequently (15 of 23) in the BPD group than in the others (P less than .0001). Seventeen children in the BPD group had definite pulmonary abnormalities, none of them severe. The anteroposterior dimension of the chest in survivors of BPD tended to be decreased (P less than .001 vs that of reported control subjects).     

Treatment of normal individuals with granulocyte-colony-stimulating factor: donor experiences and the effects on peripheral blood CD34+ cell counts and on the collection of peripheral blood stem cells

BACKGROUND: Granulocyte-colony-stimulating factor (G-CSF) has been used in patients to increase the level of circulating hematopoietic progenitors. Although G-CSF has been administered to some healthy individuals, the kinetics of mobilization of peripheral blood stem cells (PBSCs), the optimum dose schedule and the incidence and nature of adverse reactions in normal individuals are not completely defined. STUDY DESIGN AND METHODS: Normal individuals (n = 102) who received G- CSF for 5 or 10 days at doses of 2, 5, 7.5, or 10 micrograms per kg per day were studied. The subjects were observed for symptoms and physical changes, and blood samples were obtained for a variety of laboratory tests. After 5 or 10 days of G-CSF treatment, PBSCs were collected by apheresis and analyzed. RESULTS: Overall, 89 percent of the individuals completed the 5-day treatment protocol and 88 percent completed the 10- day protocol without modification of the dose of G-CSF administered. Ninety percent of donors experienced some side effect of G-CSF. The most frequent effects noted were bone pain (83%), headache (39%), body aches (23%), fatigue (14%), and nausea and/or vomiting (12%). The dose of G-CSF administered directly affected the proportion of people with bone pain (p = 0.025) or body aches (p = 0.045) or who were feeling hot or having night sweats (p = 0.02) or taking analgesics (p = 0.01). With the 5-day dose schedule, several changes in serum chemistries occurred, including increases in alkaline phosphatase (p = 0.001), alanine aminotransferase (p = 0.0013), lactate dehydrogenase (p = 0.0001), and sodium (p = 0.0001). Decreases occurred in glucose (p = 0.045), potassium (p = 0.0004), bilirubin (p = 0.001), and blood urea nitrogen (p = 0.0017). In donors who received G-CSF for 5 days, the absolute neutrophil count was increased after one G-CSF dose, and it reached a maximum on Day 6, as did the number of CD34+ cells (64.6 +/? 55.9 × 10(6) cells/L). In those same donors, the platelet count after apheresis on Day 6 was 32 +/? 13 percent lower than pretreatment values (250 +/? 42 × 10(9) cells/L). In donors receiving G-CSF for 10 days, the neutrophil count reached a maximum on Day 8, but the number of CD34+ cells peaked on Day 6 (58.3 +/? 52.1 × 10(5) cells/L) and then declined. The platelet count decreased from pretreatment values by 28 +/? 12 percent prior to apheresis on Day 11. When individuals were treated for 5 days with G-CSF, the quantity of CD34+ cells collected was directly related to the G-CSF dose. When 5 micrograms per kg per day was given, 2.80 +/? 1.81 × 10(8) cells were collected, compared with collection of 4.67 +/? 3.11 × 10(8) cells when 10 micrograms per kg per day was given (p = 0.04). More important, PBSCs collected after 10 days of G-CSF administration (5 micrograms/kg/day) had significantly fewer CD34+ cells (0.82 +/? 0.37 × 10(8) cells, p = 0.01) than did PBSCs collected after 5 days of G-CSF (5 micrograms/kg/day). CONCLUSION: Most normal donors receiving G-CSF experience side effects, but these are mild to moderate in degree. Some alterations in blood chemistries occur, but none were clinically serious. Because of the symptoms associated with G-CSF, these individuals must be monitored closely. The treatment of normal donors with G-CSF for more than 5 days significantly decreased the number of circulating CD34+ cells and the quantity collected by apheresis.     

振幅型光栅法人眼调制传递函数测定的理论分析

目的:介绍测量视网膜调制传递函数的方法和光学原理,验证振幅型正弦光栅加零级空间滤波的方法测量视网膜调制传递函数使测量仪器小型化的可行性。方法:目前测量仪器中获得两相干点光源主要是使用平行板法、双道威棱镜法和光栅法3种,从理论上分析比较3种方法的优劣性,并重点分析矩形光栅、振幅型正弦光栅的各级衍射光强分布特点。结果:①平板法和双道威棱镜法可获得两相干点光源,也是在视网膜调制传递函数测量仪中应用比较成熟的技术,其光学原理简单,获得相干点光源的相干性良好,光强稳定。另外,使用双道威棱镜法时,可以用电位带动反射镜的移动来控制两点光源的间距,易于装置的智能化控制,但所设计的仪器外观尺寸较大,移动性较差,不利于测量装置的手持式和小型化发展。②矩形光栅法可以实现仪器的小型化,但由于矩形光栅的衍射图样是单缝衍射图样与多光束干涉图样相互调制的结果,即衍射光强的多光束干涉条纹干扰测量结果。③振幅型正弦光栅的透过率函数可以实现0￣1,以余弦波形式对入射光波产生振幅调制,且衍射光强只有三级谱线(0级和±1级),且±1级谱线的光强分布具有对称性,只要进行零级空间滤波,就可以得到作为视标调制度的两个点光源。结论:振幅型正弦光栅加零级空间滤波可以获得相干性良好相干点光源,并且可以实现测量仪器的小型化。