卡氏肺孢子菌肺炎的1例报告

卡氏肺孢子菌肺炎(pneumocystis carinii pneumonia,PCP)是由卡氏肺孢子菌感染引起的呼吸系统机会感染,最初常见于早产儿、器官移植及肿瘤、免疫缺陷的患者.PCP是AIDS患者最常见的机会感染和最主要的致死原因.近年来,由于免疫抑制剂广泛、长期、大剂量应用,恶性肿瘤放化疗以及器官移植患者数量增加迅速,本病发病率有所升高,PCP病情进展迅速,致死率极高,临床上应提高对其的警惕和认识.     

国产循环酶法检测同型半胱氨酸试剂盒的分析性能评价

目的对某国产循环酶法同型半胱氨酸试剂盒进行性能评价。方法依据CLSI-EP相关文件,在AU2700生化仪上对该试剂盒的精密度、线性范围、可报告范围、生物参考区间验证、干扰试验等方面进行性能评价;并与西门子化学发光法进行比对分析,计算相关系数和直线回归方程,根据回归方程计算同型半胱氨酸在医学决定水平处的预期偏倚和预期偏倚的95%可信区间并判断偏倚是否可以接受。结果批内精密度(CV)为0.94%、1.41%,批间CV为3.00%、2.60%;线性范围5.0~50.0μmol/L,最大稀释倍数为20,临床可报告范围5.0~1 000.0μmol/L;血红蛋白≤5g/L、三酰甘油≤7.8mmol/L、抗坏血酸≤1.7mmol/L、胆红素≤0.68mmol/L,对试验无明显干扰;两种分析仪结果间均呈良好的线性关系,其相关系数r均大于0.975,在医学决定水平处的系统偏倚临床可以接受。结论该国产同型半胱氨酸测定试剂盒在AU2700全自动生化仪上的分析性能良好,可应用于临床检测。     

Hitachi 7600型全自动生化分析仪理论K值与校准K值的应用

目的探讨Hitachi 7600型全自动生化分析仪理论K值与校准K值的应用。方法应用速率法对丙氨酸氨基转移酶（ALT）、天冬氨酸氨基转移酶（AST）、γ-谷氨酰转肽酶（γ-GT）、肌酸激酶（CK）及乳酸脱氢酶（LDH）进行检测,理论K值及2种校准血清校准后的K值分别记为K、K1、K2,比较上述酶的3种校准结果。结果 ALT、AST、γ-GT、CK及LDH的理论K值均小于2种实际K值,校准K值的结果明显优于理论K值。5种酶2种校准结果的R2值均大于0.95。结论理论K值不适用于临床实验室,2种校准血清均能满足质控和临床工作的需要。     

Sustained high plasma 5-aminolaevulinic acid concentration in a volunteer: no porphyric symptoms

The pathogenesis of the acute porphyric attack is not known. One hypothesis is that porphyrin precursors, especially 5-aminolaevulinic acid (ALA), are toxic for neuronal tissue. This was tested by infusing ALA in a male volunteer after a loading dose at a rate of 50-80 mg h-1 for 92.5 h. During the experiment plasma ALA concentration was 9-11 mumol 1-l and porphobilinogen concentration 3-6 mumol 1-l which are the levels seen during acute attacks. Urinary excretion of these porphyrin precursors was also markedly increased. ALA infusion caused no subjective symptoms and no change in pulse rate, blood pressure, or autonomic nerve function or conduction velocity of peripheral nerves. Photosensitivity was not demonstrable. It is concluded that sustained high plasma ALA concentration does not cause porphyria-like symptoms.     

A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias

Abstract

Molecular diagnosis of autosomal dominant acute hepatic porphyrias (AHPs) plays an important role in the management of these disorders. To introduce next generation sequencing (NGS) to the porphyria diagnosis, we designed a panel that contained four genes, ALAS1, HMBS, CPOX and PPOX for mutational analysis of acute intermittent porphyria (AIP), hereditary coproporphyria (HCP) and variegate porphyria (VP). To validate the AHP panel, 30 samples with known pathogenic variants as determined by Sanger sequencing, were analyzed using the Ion PGM?. Among them, nine have so far not been reported. The pathogenic variants were identified and annotated manually in IGV by three individuals who were blinded to the Sanger results. The AHP panel consists of 95 amplicons that covers 92% of the coding region of the four genes. Of the 95 amplicons, 93 had an average read-depth of >500 reads. In 29 of the 30 tested samples, pathogenic variants were correctly identified and annotated. The number of reads from the mutated alleles were approximately 50% of the total. The annotation of a 22-bp duplication with NGS differed from that of Sanger by one nucleotide. NGS showed an advantage in allelic discrimination over Sanger sequencing and was also able to detect a known somatic variant in the HMBS gene. The AHP panel will be applied in the initial diagnosis of new patients. Any sequence variations with a frequency of ≥10% will be confirmed by Sanger sequencing. The cost-effectiveness of a NGS approach for AHP in a diagnostic laboratory needs to be further assessed.     

Biological significance and development of practical synthesis of biotin

Biotin (1), a water-soluble B series vitamin, distributes widely in microorganisms, plants, and animals. Biosynthesis of 1 involves five steps sequence starting from pimelic acid. The last step, a transformation from dethiobiotin (DTB) to 1, includes an iron clusters-mediated radical process. The compound 1 is a cofactor of carboxylation enzymes and plays crucial roles in the metabolism of fatty acids, sugars, and alpha-amino acids. In addition to the increasing application to feed additives, recent reports have revealed that 1 enhances insulin secretion in animals, suggesting it for a promising therapeutic candidate for an anti-diabetes drug. The remarkably strong affinity of 1 with avidin and streptavidin has been extensively applied for such technologies as photoaffinity labeling. Among the number of approaches to 1 so far developed in 50 years, a synthesis using L-cysteine and thiolactone as a starting material and a key intermediate, respectively, represents one of the best routes leading to 1, because of short steps, high yield, use of inexpensive reagents, and ease of operation.     

间质性肺炎猝死的法医病理学研究

目的:探索间质性肺炎引起猝死的死亡机制。方法:对20例间质性肺炎引起猝死的案例,根据死者年龄分为成人组及婴幼儿组2组,分别进行组织病理学观察,并结合案情进行分析。结果:10例成年人死者多为与人纠纷、斗殴或运动时死亡。10例婴幼儿死者均以普通感冒入院治疗,随后迅速出现呼吸衰竭并死亡。结论:在成年人,间质性肺炎是死亡的病理基础,打架斗殴、运动等为死亡的诱因。在婴幼儿,间质性肺炎是猝死的直接死因。     

A review of the clinical presentation and laboratory findings in two uncommon hereditary disorders of sulfur amino acid metabolism, beta-mercaptolactate cysteine disulfideuria and sulfite oxidase deficiency

Two hereditary disorders of sulfur amino acid metabolism, beta-mercaptolactate-cysteine disulfideuria and sulfite oxidase deficiency, were described twenty years ago. Other examples of these disorders have been limited to about 5 of each in the world literature since then. Reasons for the apparent rarity of these conditions are discussed and the analytical procedures to identify them are reviewed. The detection of the first depends on the positive result of a cyanide-nitroprusside test followed by positive identification of the specific mixed disulfide. The enzyme mercaptopyruvate sulfur transferase has been shown to be deficient. In the second disorder of sulfite oxidase deficiency, the clinical presentation with progressive dystonia and dislocated lenses in an infant should suggest further laboratory investigations for this disorder which would not be detected by conventional laboratory screening procedures. Laboratory diagnosis can be obtained by use of the Merckoquant sulfite test on a fresh urine sample. Quantitative thiosulfate and taurine measurements can also be made. Positive identification of the specific amino acid S-sulfo-L-cysteine should also be made. The enzyme sulfite oxidase is missing from such organs as liver, kidney and brain. This latter condition may also be associated with xanthinuria. For this combined disorder of sulfite oxidase and xanthine oxidase, a deficiency of a molybdenum-containing cofactor has been demonstrated.     

Heme Oxygenase-1 is an Essential Cytoprotective Component in Oxidative Tissue Injury Induced by Hemorrhagic Shock

Hemorrhagic shock causes oxidative stress that leads to tissue injuries in various organs including the lung, liver, kidney and intestine. Excess amounts of free heme released from destabilized hemoproteins under oxidative conditions might constitute a major threat because it can catalyze the formation of reactive oxygen species. Cells counteract this by rapidly inducing the rate-limiting enzyme in heme breakdown, heme oxygenase-1 (HO-1), which is a low-molecular-weight stress protein. The enzymatic HO-1 reaction removes heme. As such, endogenous HO-1 induction by hemorrhagic shock protects tissues from further degeneration by oxidant stimuli. In addition, prior pharmacological induction of HO-1 ameliorates oxidative tissue injuries induced by hemorrhagic shock. In contrast, the deletion of HO-1 expression, or the chemical inhibition of increased HO activity ablated the beneficial effect of HO-1 induction, and exacerbates tissue damage. Thus, HO-1 constitutes an essential cytoprotective component in hemorrhagic shock-induced oxidative tissue injures. This article reviews recent advances in understanding of the essential role of HO-1 in experimental models of hemorrhagic shock-induced oxidative tissue injuries with emphasis on the role of its induction in tissue defense.     

隐源性机化性肺炎反复误诊为社区获得性肺炎

目的：探讨隐源性机化性肺炎(cryptogenic organizing pneumonia, COP)的诊治要点,以减少误诊。方法回顾分析我科收治的1例误诊为社区获得性肺炎(community acquired pneumonia, CAP)的 COP 临床资料,并复习相关文献。结果本例因发现双肺反复渗出性病灶5个月就诊。病程中多次就诊当地医院行胸部 CT 扫描诊断为CAP,反复予抗感染治疗无效。入我院后查血常规未见明显异常,胸部 CT 检查示两肺上叶、右肺下叶多发炎性病灶;纤维支气管镜未见异常;B 超检查未见全身浅表淋巴结增大;肿瘤标志物检测、痰病原学及感染生物标志物检查均(-)。后行 CT 引导下经皮肺穿刺活检病理检查,并结合影像学表现,确诊为 COP,予大剂量甲泼尼龙琥珀酸钠冲击后序贯口服治疗,病情好转出院。随访1年病情稳定。结论临床遇及肺部多发渗出性实变患者,病程较长,常规抗感染治疗无效,尤其对糖皮质激素治疗敏感时应高度警惕 COP,及时行纤维支气管镜或 CT 引导下经皮肺活检病理检查,以减少误诊误治。     

肺炎型细支气管肺泡癌误诊为肺炎一例

目的探讨肺炎型细支气管肺泡细胞癌（bronchioloalveolar carcinoma,BAC）误诊原因,提高本病早期诊断水平。方法对我院收治的1例肺炎型BAC的临床资料进行回顾性分析。结果本例因咳嗽2个月,活动后气促40d,加重半个月入院。在基层诊所及市级医院诊治20d,按结核性心包炎、社区获得性肺炎予抗结核、抗感染治疗,呼吸困难进行性加重,并出现右上肢肿胀,彩超示多发血栓形成。转本院经纤维支气管镜检查及活检,发现送检支气管黏膜和肺组织中有少量异型细胞,经病理检查证实为BAC。因病情进展迅速,呼吸衰竭死亡,在本院共住院10d。结论临床医生诊治经验不足、思维局限、对本病认识不足是导致误诊的主要原因,提示临床医生应开阔诊断思路,动态细致观察,深入询问、检查,全面分析,合理选择医技检查,避免误诊误治。     

脑卒中后肺炎

1/3的脑卒中患者可发生肺炎,肺炎能显著增加脑卒中患者的致死、致残率,严重威胁着脑卒中患者的健康和生命。如果脑卒中前有肺脏疾患如慢性阻塞性肺疾病以及由脑卒中引起的呼吸机制紊乱,包括由于轻度偏瘫引起的呼吸肌无力,脑干损伤引起的呼吸损害,不适当的咳嗽及口中异物误吸等均可加重病情导致呼吸衰竭。介绍脑卒中后引起肺炎的常见病因;脑卒中后发生肺炎的相关危险因素;脑卒中后肺炎的诊断和鉴别诊断并详述脑卒中后肺炎抗生素选用原则,如何考虑气管插管和切开,胃肠道营养、防应激性溃疡方法和意义及护理和对症治疗在脑卒中后肺炎康复治疗的重要性。     

凝血因子ⅩⅢA基因Arg77Cys错义突变和Arg174stop无义突变致凝血因子ⅩⅢ缺陷的分子机制

本研究以凝血因子ⅩⅢ(FⅩⅢ)基因突变为研究的切入点,从分子水平研究这些突变致病的机制.构建野生型FⅩⅢA重组表达质粒,用定点突变方法获得含有2种突变(Arg77Cys及Arg174stop)的FⅩⅢA重组表达质粒.分别将上述重组质粒通过脂质体介导的基因转移方法转染到COS-7细胞表达;用发色底物法检测转染细胞中FⅩⅢ...     

儿童禽流感肺炎与细菌性肺炎的胸部放射征象分析

[目的]探讨儿童H3N1型禽流感病毒性肺炎与细菌性肺炎的胸部放射表现特点。[方法]回顾性分析2例经世界卫生组织确认为H3N1型禽流感病毒感染患者胸部放射表现,并与65例儿童细菌性肺炎进行对比。[结果]本组2例H3N1型禽流感病毒性肺炎患者初期表现为单发片絮状渗出病变,密度高,边缘模糊,短期内病灶变化快;进展期由下至上扩展到多个肺叶、肺段,进展迅速;恢复期病变由弥漫性多发病变逐转变为局限病变;磨玻璃样密度病变影存在于各期。细菌性肺炎多无此特点,细菌性肺炎初期多为单发片状渗出病变,进展期病变局限于肺段、肺叶,恢复期多从近肺门侧开始吸收,病灶吸收较禽流感病毒性肺炎快,且吸收完全。[结论]儿童H3N1型禽流感病毒性肺炎的胸部放射表现具有一定特征性,放射动态观察则是与儿童细菌性肺炎鉴别诊断的重要手段。