A new case of malonyl coenzyme A decarboxylase deficiency presenting with cardiomyopathy

A new case of mitochondrial malonyl coenzyme A decarboxylase deficiency is described. The patient presented with an initial episode of metabolic acidosis, seizures, hypoglycemia, and cardiac failure at 2 months of age which slowly resolved. Subsequent evaluations at 4 years of age for developmental delay revealed a prominent elevation of malonic acid in urine. Malonyl carnitine was also elevated. The activity of malonyl CoA decarboxylase in cultured fibroblasts was 7% of normal. Conclusion Malonyl CoA decarboxylase deficiency may result in inhibition of fatty acid oxidation, which may account for the cardiomyopathy. Received: 12 April 1996 / Accepted: 24 September 1996     

Infantile schwannoma of the maxillary sinus

A rare case of a 5-year-old female with schwannoma of the maxillary sinus is presented. She had complained of painless swelling of the left cheek and hard palate for a duration of one year. Preoperatively, a CT scan strongly suggested it to be a maxillary cyst with an erupted tooth rather than neoplasm. The tumour was completely removed after embolization of the left internal maxillary artery. The tumour was composed of spindle cells in a palisading pattern and intercellular collagenous fibres. Mitotic figures and atypical nuclei were not observed. Immunohistochemically, the majority of the cells were positive for NSE and S-100 protein, whereas GFA and PCNA showed little immunoreaction. The pathological diagnosis was Antony type A of schwannoma arising in the maxillary sinus.     

妊娠期糖尿病患者高密度脂蛋白糖基化与妊高征发病的关系

目的：了解妊娠期糖尿病孕妇体内高密度脂蛋白（ＨＤＬ）糖化程度及受体代谢途径情况，探讨其与妊高征发病的关系。方法：用荧光法测定妊娠期糖尿病患者糖化血红蛋白，≤８．０％为组Ⅰ，共３２例、＞８．０％为组Ⅱ，共３４例，并测定正常妊娠组３６例及正常非妊娠组３２例ＨＤＬ糖化值。用酶联免疫受体法观察ＨＤＬ与培养的人胚肺成纤维细胞表面受体特异结合情况。结果：妊娠期糖尿病患者组Ⅰ、组ⅡＨＤＬ糖化值明显高于正常妊娠组和正常非妊娠组（Ｐ＜０．０１）。其细胞结合、摄入和降解糖化ＨＤＬ均较正常妊娠组和正常非妊娠组升高，使细胞内总胆固醇含量升高（Ｐ＜０．０１）。结论：妊娠期糖尿病患者ＨＤＬ糖化值含量的变化及脂质沉积，可能是妊高征小动脉痉挛的原因之一。     

分娩方式对母体血清中各种酶的影响(附194例临床分析)

目的：了解分娩方式对健康产妇血清酶ＧＯＴ、ＧＰＴ、γ－ＧＴ、ＡＬＰ、ＬＤＨ、ＣＫ、ＣＫ－ＭＢ、ＨＢＤＨ的影响及其变化。方法：测定１９４例健康产妇足月分娩后４８ｈ内的血清酶，根据分娩方式将产妇分为阴道产组及剖宫产组，剖宫产又分为择期组及急症组；阴道产又分为顺产组及难产组；分别对各组间各种血清酶升高率进行χ２检验。结果：阴道产组心肌酶ＧＯＴ、ＣＫ、ＣＫ－ＭＢ、ＨＢＤＨ升高率显著高于剖宫产组（Ｐ＜０．０５～Ｐ＜０．０１）；阴道顺产组与难产组比较，除难产组ＣＫ升高率显著高于顺产组外，其余心肌酶升高率两组间无差异（Ｐ＞０．０５）；剖宫产急症组与择期组间血清酶升高率无差异（Ｐ＞０．０５）；各组间肝酶ＧＰＴ、γ－ＧＴ、ＡＬＰ升高率无差异（Ｐ＞０．０５）。结论：阴道分娩者对心肌的影响大于剖宫产者；分娩方式对心肌的影响取决于胎儿经阴道产抑或剖宫产，而与术式、时机无关。分娩方式对肝酶影响不明显。但尚须积累更多的资料方可定论。     

RESISTANT MECHANISMS OF CISPLATIN IN HUMAN LUNG ADENOCARCINOMA CELL LINE A_(549)DDP

ＲＥＳＩＳＴＡＮＴＭＥＣＨＡＮＩＳＭＳＯＦＣＩＳＰＬＡＴＩＮＩＮＨＵＭＡＮＬＵＮＧＡＤＥＮＯＣＡＲＣＩＮＯＭＡＣＥＬＬＬＩＮＥＡ５４９ＤＤＰＺｈａｎＭａｏｃｈｅｎｇ詹茂程ＬｉｕＸｕｙｉ刘叙仪ＣａｉＰｅｎｇ蔡鹏ＸｕＧｕａｎｇｗｅｉ徐光炜ＳｃｈｏｌｏｆＯ...     

利用粘附式细胞仪测定培养巨噬细胞内pH值

用ｐＨ值敏感荧光探针Ｓｎａｆｌｃａｌｃｅｉｎ－ＡＭ标记体外培养４８小时的小鼠腹腔巨噬细胞，５７０型粘附式细胞仪观察巨噬细胞在对刀豆素Ａ进行受体介导内吞过程中细胞内ｐＨ值的变化。结果显示，开始内吞后细胞内ｐＨ值即降低，内吞进行到第５分钟细胞内ｐＨ值降到最低，在此后的６分钟内均维持于这一较低水平。本法灵敏度高，简便快捷，适用范围广，可无损伤观察活细胞或细胞器ｐＨ值的变化。     

血小板α颗粒膜蛋白140检测在“病”与“证的”特异性联系

应用血小板α颗粒膜蛋白１４０（ＧＭＰˉ１４０）为血小板活化指标，测定了７４例糖尿病、３６例心血管疾病、５３例肾脏疾病患者的血浆ＧＭＰˉ１４０浓度，并分别按病种及按是否有血瘀证分组比较了各组间的ＧＭＰˉ１４０测定值。结果表明：ＧＭＰˉ１４０在各疾病组患者均较正常人升高，三组间则无明显差异；而在血瘀及非血瘀证明之间则有明显差异。认为ＧＭＰˉ１４０有可能作为诊断血瘀证的一项实验室指标。     

Ⅱ型糖尿病和高血压患者血液动力学改变的相关因素分析

目的：探讨糖病和高血压血管并发症的发生机理。方法：分别测定高血压（ＨＴ）组、Ⅱ型糖尿病（ＮＩＤ－ＤＭ）组及Ⅱ型糖尿病合并高血压组和对照组的胰岛素水平、血脂、心脏彩超和血液流变学指标。结果：３个试验组的周围总阻（ＴＰＲ）、甘油三酯（ＴＧ）和胰岛素面积（ＩｎｓＳ）均明显增高,其中ＨＴ组和ＮＩＤＤＭ合并ＨＴ组的左室收缩期峰值室壁应力（ＰＳＳ）也明显增高：ＮＩＤＤＭ合并ＨＴ组ＩｎｓＳ明显高于其他三组,三试     

杀莠素A对兔软骨细胞增殖和产生NO的影响

研究杀莠素Ａ对ＩＬ－１抑制软骨细胞增殖和诱导ＮＯ产生的作用。方法：ＩＬ－１单独或与杀莠素Ａ共育于软骨细胞,用结晶紫染色法测定软骨细胞增殖,Ｇｒｉｅｓｓ法测定ＮＯ的产生。结果：ＩＬ－１抑制软骨细胞增殖,杀莠素Ａ剂量依赖地逆转ＩＬ－１的作用。杀莠素Ａ还能剂量依赖地抑制ＩＬ－１诱导软骨细胞产生ＮＯ。结论：杀莠素Ａ逆转ＩＬ－１换制软骨细胞增殖的作用可能是通过ＮＯ介导的。     

Retinol status of newborn infants with congenital diaphragmatic hernia

The etiology of congenital diaphragmatic hernia (CDH) is not yet known. Studies in the literature from 1941 have reported that nutritional deficiency of vitamin A during pregnancy could lead to CDH, associated or not with other malformations in young rats. More recently, possible correlations between expression patterns of cellular retinoid-binding protein and retinoic-acid receptors and morphologic effects of vitamin A deficiency have been suggested. The purpose of this study was to verify in human newborns the possible link between vitamin A deficiency and CDH previously observed in experimental animals. Blood samples were obtained during the first hours after birth from 11 term CDH newborns and 11 healthy controls matched for gestational age, and also from 7 mothers in each group, for a total of 7 newborn-mother pairs of matched CDH-controls. Plasma retinol was measured by high-performance liquid chromatography and retinol-binding protein (RBP) by nephelometry. In the 11 matched CDH-control newborns, plasma retinol and RBP levels in CDH newborns were 50% less than control values (P< 0.0002 and <0.006, respectively); in contrast, retinol levels in CDH mothers were significantly higher than those of control mothers (P < 0.005). The observation that the plasma concentrations of retinol and RBP are low in infants with CDH relative to controls may be clinically very relevant and may help to elucidate the mechanism of development of this congenital anomaly.