上海市新生儿PKU和CH筛查需方意向分析

目的:分析需方对实施新生儿疾病筛查的态度和影响因素及其对于新生儿疾病筛查的影响,进一步寻找潜在的促进和阻碍新生儿PKU和CH筛查开展的各种因素。方法:采用问卷调查的方法对上海市4家接产机构的75例孕产妇进行了需方意向调查。结果:被调查孕产妇中80.6%曾听说过新生儿疾病筛查,86.6%认为新生儿疾病筛查是有必要的,95.5%的孕产妇同意给孩子做新生儿疾病筛查。多因素Logistic回归分析结果显示:家长的年龄、职业、文化程度、家庭月收入和医保状况都不是影响其对于新生儿疾病筛查的认知水平及需求的因素。结论:需方对于新生儿疾病筛查具有高接受度,经济不是影响家长认知水平及需求的因素,在筛查工作中应正确认识"新生儿疾病筛查中的知情同意权"问题,应加强对筛查服务提供者和接受者的教育,确保筛查的有效实施。     

上海地区遗传代谢病的新生儿筛查(英文)

Objectives Inborn errors of metabolism (IEM) has a diverse spectrum and different incidence in different countries, the early diagnosis at presymptomatic stage is imperative to benefic patient from sequelae. Phenylke-tonuria (PKU) / hyperphenylalaninemia (HPA) is the most common metabolism disorder in Shanghai as well as in other regions. The study is to further clarify the incidence of inborn errors of metabolism among newborn in Shanghai. Methods The dried blood spot specimens were collected from near 90 ...     

气相色谱-质谱联用技术在医学检验中的应用进展

气相色谱-质谱联用技术是一种高效的分析技术,该技术利用气相色谱的分离能力让混合物中的组分分离,并用质谱鉴定分离出来的组分（定性分析）以及精确的量（定量分析）。现对其在医学检验方面的应用进展作一综述。     

Citrin缺陷导致的新生儿肝内胆汁淤积症临床和SLC25A13基因突变的研究

Objectives To investigate the clinical and laboratory features of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and to characterize the molecular basis and prognosis of this disease. Methods Twenty-six patients with NICCD were collected because of idiopathic intrahepatic cholestasis and jaundice. The diagnosis was made by routine laboratory data collection, tandem mass spectrometry (MS-MS) and gas chromatography mass spectrometry (GC-MS) analyses. SLC25A13 gene mutation was analyzed by using polymerase chain reaction (PCR), direct DNA sequencing and restriction fragment length polymorphism analyses. The patients were followed up for nearly 2 years. Results The NICCD patients showed low birth weight and the average onset of jaundice was 29 days. Laboratory data showed liver dysfunction, hyperbilirubinemia, hypoproteinemia, high levels of α-fetoprotein, prolonged prothrombin time, hypoglycemia and hyperammonemia. MS-MS analysis of the blood samples revealed specific elevation of citrulline, methionine, threonine, tyrosine and elevation of free carnitine, short-chain and long-chain acylcarnitines. GC-MS analysis of the urine samples showed elevated 4-hydroxyl phenyllactic acid and 4-hydroxyi phenylpyruvic acid. Twelve different mutations were identified, including 4 novel mutations, i. e. , G386V, R467X, K453R and 1192-1193delT. Forty-four mutated alleles were identified in the 52 alleles (84.6%). Among them, 851del4, 1638ins23 and IVS6+5G＞A mutations were the most frequent mutations, accounting for 40.9%, 20.5% and 11.4% of the total alleles examined respectively.Five of the 26 patients have not been recovered, including 4died and 1 accepted liver transplantation. No obvious relationship was found between the genotype and phenotype in NICCD. Conclusion The 851del4,1638ins23 and IVS6+5G＞A mutations are the hot-spot mutations in Chinese NICCD patients. Some NICCD patients have poor prognosis.     

干血滤纸片类固醇激素质控品制备及评价

目的探讨用于类固醇激素液相色谱-串联质谱(LC-MS/MS)检测,室内质控干血滤纸片(DBS)类固醇激素质控品的制备方法。方法收集全血,分离血细胞和血浆,生理盐水洗涤血细胞,活性炭过夜吸附血浆,添加标准品,制成低、中、高三个浓度的DBS类固醇激素质控品,LC-MS/MS检测并分析其精确度、准确度、稳定性及不同血斑间的差异。结果 DBS类固醇激素质控品批内精确度和准确度分别为2.4%~7.0%,102.0%~111.0%;批间精确度和准确度分别为5.1%~9.8%,99.0%~114.8%;-20℃保存5个月,月间差异无统计学意义(P0.05);不同血斑间变异系数为3.3%~8.2%,变异系数较小。结论配制的DBS类固醇激素质控品具有良好的精确度、准确度及稳定性,血斑间差异小,符合室内质控品要求,可用于LC-MS/MS检测类固醇激素的室内质控。     

脾脏肿大：可能是身体里缺少—种代谢酶——专家浅谈戈谢氏病渗断及治疗

因为身体里缺少一种代谢酶,导致葡糖脑苷脂在巨嗜细胞内蓄积,肝脾越来越大,骨头变脆,疼痛难忍。     

开拓小儿内分泌疾病的临床研究

内分泌学与儿童生长、发育、保持代谢稳定、协调人体的生命过程有关 ,是儿科重要的专业之一。最近二十年来分子生物学、细胞生物学、免疫学、遗传学等学科的突飞猛进 ,促进了内分泌学的迅速发展 ,同样也促进了国内小儿内分泌的发展。我国小儿内泌学的发展历程较短 ,近年取得了一些进展 [1～3]。目前我们对内分泌系统的认识已经不再仅仅局限于传统的内分泌腺 ,新的激素、新的概念不断出现 ,使经典内分泌理论得到更新。本期刊出的有关对瘦素、ICF_I的临床研究论文反映了人们对这些激素与疾病关系的重视。随着内分泌疾病的病因学研究深入到分…     

红细胞沉降率与血浆α_1抗胰蛋白酶水平关系

红细胞沉降率(ESR)是临床常用的一项非特异性实验室指标,它可作为多种疾病的筛选试验,并能对确诊的某些疾病进行病情监视和疗效观察。α_1抗胰蛋白酶(α_1-AT)属于α_1-球蛋白,是一种非特异的炎症反应蛋白,在许多疾病中都可升高,是体内     

有关支气管哮喘的几个问题

支气管哮喘是由多种因素引起支气管高反应,导致气道广泛性狭窄与气道阻力增加的一个病理生理过程,是儿童的常见病。本文就目前对哮喘儿童的支气管高反应性、支气管激发试验、病毒感染与哮喘的关系,以及长效茶碱在治疗哮喘中的地位等问题作一综述。     

遗传性代谢病致儿童脑发育落后的治疗与预后

目的探讨遗传性代谢疾病致儿童脑发育落后中治疗及影响预后的相关因素。方法用串联质谱仪对278例原因不明的脑发育落后患儿进行血氨基酸谱和酰基肉碱谱筛查,对疑似代谢性疾病患儿进行尿气相色谱/质谱（GC/MS）及相关酶活性检测,对检出的遗传性代谢病患儿的临床资料进行综合分析。结果17/278例（6.15%）确诊为遗传性代谢病,其中甲基丙二酸血症4例,甲基丙二酸血症伴同型胱氨酸尿症4例,丙酸血症3例,鸟氨酸氨甲酰转移酶缺乏症、枫糖尿病、Ⅰ型戊二酸血症、异染色性白质脑病、苯丙酮尿症、生物素酶缺乏症各1例。临床表现为智能及运动发育落后或倒退、惊厥、昏迷、呕吐、肌张力降低、营养不良、嗜睡、反复感染等。实验室检查显示代谢性酸中毒、血氨及血乳酸增高、贫血等。MRI表现为脑萎缩、双侧脑白质T2w高信号或伴T1w低信号、多发性脑软化或囊样变等。起病早、伴严重酸中毒及昏迷的维生素B12无效型甲基丙二酸血症预后极差。患儿经特殊奶方、低蛋白饮食、肉碱、维生素B12及生物素等治疗后,好转11例,死亡5例,未愈1例。结论对原因不明的脑发育落后患儿应予遗传代谢性病筛查;早期、合理治疗有助于改善预后。