Propionic acidemia: report of a case that is successfully managed by peritoneal dialysis and sodium benzoate therapy

Propionic acidemia is a rare hereditary disease which is an autosomal recessive disorder. Defect of propionyl CoA carboxylase results in abnormal accumulation of propionate and its metabolites which interfere the pathway of glycine cleavage and the urea cycle. This organic acidemia is characterized by a wide spectrum of clinical and biochemical findings, including recurrent vomiting, difficult feeding, lethargy, hypotonia, metabolic ketoacidosis, hyperglycinemia and hyperammonemia during the acute episodes. We present a male newborn infant who sustained this disorder and was managed successfully with blood exchange transfusion, peritoneal dialysis, supplemented with sodium benzoate and sodium bicarbonate therapy. Urine gas chromatography disclosed significant elevation of propionate and its metabolites which subsided 2 days after peritoneal dialysis. Special designed formula was then given with restriction of protein intake and supplement with sodium benzoate and sodium carbonate. Prenatal genetic counseling is necessary in further pregnancy. Diagnosis can be obtained when propionyl CoA carboxylase activity is low in cultured amniotic fluid cells or chorion villi sample or when there is abnormally high methylcitrate level in amniotic fluid.     

微量元素锌在佝偻病治疗中的效果观察

目的 :探讨补充锌 +维生素D +钙剂治疗佝偻病的效果。方法 :随机分为 3组 ,每组各 5 3例。对照组给予常规治疗 (即维生素D +钙剂 ) ,治疗 1组先给予锌治疗 1个月后 +常规治疗 ,治疗 2组同时给予锌 +常规治疗。 3个月为 1疗程。治疗前后检测血清微量元素及骨碱性磷酸酶 (BALP)等项目。结果 :治疗 1、2组疗效好于对照组 ,差异非常显著 (P <0 0 1) ;治疗1组疗效好于治疗 2组 ,差异有显著性 (P <0 0 5 )。结论 :治疗大多数伴低锌的佝偻病先补锌 1个月 ,再加常规治疗 ,疗效更佳。     

重组人表皮生长因子对促进Ⅱ度烧伤愈合的作用

目的 探讨重组人表皮生长因子(rhEGF)对促进Ⅱ度烧伤创面愈合的作用。方法 采用自身对照研究方法,选取46例Ⅱ度烧伤患者观察最适治疗浓度创面局部应用的治疗效果及不良反应。结果 在浅Ⅱ度烧伤创面,观察组的愈合时间为(8.7±2.1)天,对照组为(12.2±2.4)天,而深Ⅱ度烧伤创面观察组的愈合时间是(13.4±2.6)天,对照组为(19.2±3.2)天。与对照组相比,观察组创面愈合时间均有明显缩短(P<0.01),结论 rhEGF对Ⅱ度烧伤创面均可有效地促进组织修复,加快创面愈合速度,有良好的促进愈合作用,而药物反应极轻微。     

不同蚊宿主体内马来丝虫微丝蚴黑化的实验比较

羽化1～2天的中华按蚊.致倦库蚊和白纹伊蚊分别胸内接种马来丝虫微丝蚴,在接种后的第3、4、5和9天,分头、胸、腹3部解剖计算各种蚊虫体内黑化微丝蚴及发育各期幼虫。结果表明:中华按蚊、致倦库蚊和白纹伊蚊的微丝蚴黑化率分别为51·6％、86·1％和69·5％,差异显著;3种蚊虫体内的感染期幼虫率及感染期幼虫阳性率分别为35.3％、1·6％、0％和83·9％、23·5％、0％。黑化微丝蚴较多地集中在蚊虫腹部,占黑化微丝蚴总数61·6％～78·4％。     

HIV/AIDS合并深部真菌感染的调查与耐药研究

目的：了解艾滋病病毒／艾滋病(HIV／AIDS)合并深部真菌感染的临床状况、病原菌分类及耐药现状。方法：总结近年来收治的131例HIV/AIDS患者的临床资料，分析深部真菌感染的发生情况及药敏试验结果。结果：HIV／AIDS患者合并深部真菌感染48例，感染率为36．6％，其中以念珠菌为主，占61％，感染部位以消化道为主，占62．7％。随着CD4^ T淋巴细胞的减少，合并深部真菌感染的感染率逐渐增加。念珠菌对益康唑(ECO)、酮康唑(KET)、咪康唑(MIC)、制霉菌素(NYS)、氟康唑(FLU)、伊曲康唑(ITR)、5-氟胞嘧啶(5-FC)、两性霉素B(AMB)耐药率分别为69．4％、66．7％、58．3％、44．4％、43．8％、36．4％、14．3％、13．9％。结论：HIV／AIDS患者合并深部真菌感染率高，且多有药耐药性，特别是对咪唑类抗真菌药物已呈明显耐药，应引起临床医生的高度警惕。     

牛磺酸对实验性高血压大鼠脑脊液和血浆内皮素含量的影响

目的探讨牛磺酸对实验性高血压大鼠脑脊液、血浆内皮素-1(ET-1)含量的影响.方法Wistar大鼠36只,随机分为高血压组,牛磺酸组和对照组3组,高血压组和牛磺酸组建立大鼠主动脉狭窄-高盐摄入性高血压模型,牛磺酸组饲料中加牛磺酸,观察3组大鼠脑脊液、血浆ET-1含量及血压的变化,测定脑组织和主动脉组织牛磺酸含量及主动脉肌条的舒缩功能.结果应用牛磺酸后,高血压大鼠pMA,脑脊液和血浆ET-1水平均下降(P<0.05),血管舒缩功能得以改善.结论牛磺酸可降低脑脊液、血浆ET-1水平,从而降低血压.     

Old pulmonary embolism causing intrabronchial bleeding

A 51-year-old man was admitted because of hemoptysis. Physical examinations and chest XP revealed no abnormal findings. Fiberoptic bronchoscopy showed pulsatile bleeding at the orifice of right B6. Right bronchial arteriography showed a markedly dilated and tortous bronchial artery and shunting to the pulmonary arterial system in the middle and lower lobes. Pulmonary arteriography showed complete obstruction of the right middle lobar and lower lobe segmental arteries (A6, 9, 10). The hemoptysis was thought to be due to increased blood flow of the right bronchial artery, which compensated for reduced right pulmonary arterial flow. Right middle and lower lobe resection was done to prevent further hemoptysis. The resected specimen revealed old thromboemboli in the right middle and lower lobe pulmonary arteries. In this case old pulmonary embolism should be considered as a cause of intrabronchial bleeding.     

A Bronchial Response Comparison of Exercise and Methacholine in Asthmatic Subjects

The authors compared the inhaled methacholine and exercise responses in 22 stable unmedicated asthmatic patients. The exercise and methacholine challenges were performed at one to three week intervals. Bronchial responsiveness to methacholine was measured in relation to the concentration of methacholine (PC₂₀M). The response to exercise was expressed as the percentage of fall in FEV₁, from the pre-exercise FEV₁ The findings showed that 21 of 22 subjects demonstrated a fall in FEV₁, of more than 20% after methacholine challenge, while only 9/22 subjects experienced a similar decrease in FEV₁. All 9 of these positive response exercise cases completed three consecutive exercise challenges prior to the methacholine challenge. Of these cases, five were refractory to the repeated exercise challenge, and the PD₂₀M at the nonexercise stage was significantly lower than the postexercise state. In fact, the methacholine challenge sensitivity actually decreased (PD₂₀ increased) after repeated exercise. The authors concluded that methacholine seems to be a more sensitive bronchial provocation test than exercise. Second, only 55.6% of the exercise test-positive subjects were refractory to the second exercise challenge. Therefore, other factors besides the release of mediators should be considered in exercise induced asthma. Third, methacholine sensitivity actually decreased (PD₂₀ increases) after repeat exercise challenge.     

Effect of temperature in focal ischemia of rat brain studied by 31P and 1H spectroscopic imaging

³¹P, ¹H and lactate spectroscopic imaging was used to evaluate the effects of hypothermia on focal cerebral ischemia produced by middle cerebral artery occlusion. The effects on high energy phosphate metabolism, pH, lactate and NAA were investigated in 24 spontaneously hypertensive rats subjected to either permanent or transient ischemia. Under either normothermic (37.5°C) or hypothermic (32°C) conditions, with permanent 6-h occlusion, there was little difference between groups in either the NMR measurements or the volume of infarction. In animals that underwent 3 h of ischemia followed by 12 h of reperfusion, the ischemic changes in lactate, pH, NAA, and high-energy phosphate returned toward control values, and there was a protective effect of hypothermia (infarct volume of 211 ± 26 and 40 ± 14 mm³ in normothermic and hypothermic groups, respectively). Thus, hypothermia did not ameliorate the changes in lactate, pH, NAA, or high energy phosphate levels occurring during ischemia, however, during reperfusion there was an improvement in both the recovery of these metabolites and pathological outcome in hypothermic compared with normothermic animals.     

烧伤血清刺激对大鼠肠上皮细胞结构和粘弹性的影响

目的　动态观察烧伤血清对体外肠上皮细胞 (IEC)骨架和细胞生物力学 (粘弹性 )的影响。　方法　培养大鼠肠上皮细胞株IEC 6 ,用烧伤血清刺激后 ,通过细胞骨架免疫组化、细胞ELISA法定量分析以及粘弹性测定技术 ,动态观察IEC致伤前后的变化。　结果　IEC在烧伤血清作用早期 ,骨架蛋白的表达即明显降低 ,微丝、微管蛋白阳性信号减弱 ,细胞粘弹性下降。　结论　细胞骨架的损伤可引起细胞脆性增加、粘弹性下降 ,导致细胞生物力学特性的改变。这种变化 ,可能直接参与烧伤后肠上皮细胞损伤的发生。