CCMD-3与DSM-Ⅳ儿童孤独症两种诊断标准的比较

目的：比较中国精神疾病分类方案与诊断标准第三版（CCMD-3）与美国精神障碍诊断和统计手册第四版（DSM-Ⅳ）儿童孤独症诊断的一致性，探讨CCMD-3儿童孤独症诊断中存在的问题，确定诊断标准中各症状条目的出现频率。方法：运用CCMD-3和DSM-Ⅳ儿童孤独症诊断标准对连续首次就诊的255名可疑发育障碍儿童进行诊断。结果：两种诊断系统儿童孤独症、不典型孤独症、非孤独症诊断的总体一致率为96．08％；诊断差异主要来自于儿童孤独症和不典型孤独症的诊断不一致；个别症状在孤独症儿童中出现频率较低。结论：CCMD-3和DSM-Ⅳ儿童孤独症诊断标准具有较好的诊断一致性；为进一步提高诊断一致性，对CCMD-3中个别症状条目予以调整有所必要。     

Genetic data and natural history of Friedreich's disease: a study of 80 Italian patients

Summary The clinical and genetic features of 80 patients with Friedreich's disease from 64 families are described. Diagnostic criteria were: no evidence of dominant inheritance, onset by the age of 20 years, progressive unremitting ataxia of limbs and gait, and absence of knee and ankle jerks. Furthermore, at least one of the following accessory signs was present: dysarthria, extensor plantar response and echocardiographic evidence of hypertrophic cardiomyopathy. Two peaks of onset age were evident at 6–9 and 12–15 years. Analysis of intrafamily variation of onset age and absence of clustering of cardiomyopathy and diabetes did not suggest genetic heterogeneity. Peripheral nerve impairment was an early finding and showed slight further progression, whereas involvement of the cerebellar and corticospinal pathways appeared later and mainly accounted for the progressive worsening of the disease.     

诊断超声对人胚胎安全性的研究

目的　探讨诊断级B超对人胚胎发育的安全性。方法　取 12 0名孕 6～ 8周拟行人工流产孕妇 ,随机分成正常对照组 (Ⅰ组 )、辐照 5min(Ⅱ组 )、10min(Ⅲ组 )、2 0min(Ⅳ组 )、30min(Ⅴ组 )于 1h内取绒毛 ,超声辐照 30min(Ⅵ组 )于 7～ 10d后取绒毛。检测绒毛的生物化学变化。结果　诊断剂量超声辐照 2 0min可致人体宫内绒毛发生生物化学变化。丙二醛 (MDA)值随超声剂量增加而升高 (PⅠ -Ⅲ >0 .0 5,PⅠ .Ⅳ <0 .0 1,PⅠ -Ⅴ <0 .0 1) ,而超氧化物歧化酶及谷胱甘肽过氧化物酶活性随超声辐照剂量增加而下降 (PⅠ -Ⅲ >0 .0 5,PⅠ -Ⅳ <0 .0 1,PⅠ -Ⅴ <0 .0 1)。对照组与Ⅵ组比较P >0 .0 5,提示损伤作用是可逆性的。结论　诊断超声辐照时间 2 0min以上时对绒毛可造成潜在危害     

以痛性眼肌麻痹为首发症状的鼻咽癌4例分析

目的：研究以痛性眼肌为首发症状的鼻咽癌临床特点及误诊原因。方法：回顾分析４例鼻咽癌患者首发临床症状。结果：痛性眼肌麻痹可以是鼻咽癌的首发症状,可有第Ⅲ,Ⅳ,Ⅴ,Ⅵ对颅神经损害。结论：神经系统症状可以是促使鼻咽癌患者的就诊的原发症状,应及时进行鼻咽部颁标准检查,ＣＴ,ＭＲＴ检查有助于确诊。     

41例卵巢黄体破裂临床分析

[背景 ]卵巢黄体破裂是妇科急腹症之一 ,误诊率较高 .[病例报告 ]对 41例经手术及病理检查确定诊断的卵巢黄体破裂进行了临床分析 ,发病年龄为 2 0～ 41岁 ,平均 2 9岁 ;多在月经周期后半期发病 ,占 6 5 % ;发生于左侧卵巢 2 1例 ,右侧卵巢 2 0例 ;腹腔内出血为 15 0～ 2 5 0 0mL ,其中少于 5 0 0mL者2 5例 ,占 6 1% ;休克 7例 ,占 17% .黄体破裂出血量的多少与破口大小无关 .[讨论 ]本病因有腹痛、月经周期延长、不同程度的腹腔内出血及不规则阴道流血 ,易误诊为异位妊娠     

鸡卵核提取物中检测4种结缔组织病自身抗体的抗原分析

目的　检测鸡卵核提取物中结缔组织病自身抗体的抗原成份。方法　应用SDS -PAGE及考马斯亮兰染色技术对鸡卵核提取物进行蛋白组份分析 ;应用Western -blot技术对鸡卵核蛋白抗原进行免疫识别分析。结果　鸡卵核提取物中可见 13个蛋白成份 ,分子量分别为 78、 76、 72、 6 4、 5 7、 5 5、 5 0、 48、 46、 42、 38、 32和2 4KD。皮肌炎和多发性肌炎 (DM /PM )及进行性系统性硬皮病 (PSS)病人血清识别的抗原区带相同 ,有 2个组份 ,其分子量为 78和 5 0 /4 6KD ;混合性结缔组织病 (MCTD)病人血清识别的抗原区带有 3个 ,其分子量分别为78、 72和 5 0 /4 6KD ;系统性红斑狼疮 (SLE)病人血清识别的抗原区带有 3个 ,其分量分别为 778、 5 0 /4 6和42KD ;正常人血清未见识别带。结论　鸡卵核提取物中存在有结缔组织病自身抗体识别的抗原组分 ;其中 72KD蛋白是诊断MCTD的特异性抗原 ,42KD蛋白是诊断SLE的特异性抗原     

Diagnosing,discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests

PurposeFor patients with inherited metabolic disorders (IMDs), any diagnostic delay should be avoided because early initiation of personalized treatment could prevent irreversible health damage. To improve diagnostic interpretation of genetic data, gene function tests can be valuable assets. For IMDs, variant-transcending functional tests are readily available through (un)targeted metabolomics assays. To support the application of metabolomics for this purpose, we developed a gene-based guide to select functional tests to either confirm or exclude an IMD diagnosis.MethodsUsing information from a diagnostic IMD exome panel, Kyoto Encyclopedia of Genes and Genomes, and Inborn Errors of Metabolism Knowledgebase, we compiled a guide for metabolomics-based gene function tests. From our practical experience with this guide, we retrospectively selected illustrative cases for whom combined metabolomic/genomic testing improved diagnostic success and evaluated the effect hereof on clinical management.ResultsThe guide contains 2047 metabolism-associated genes for which a validated or putative variant-transcending gene function test is available. We present 16 patients for whom metabolomic testing either confirmed or ruled out the presence of a second pathogenic variant, validated or ruled out pathogenicity of variants of uncertain significance, or identified a diagnosis initially missed by genetic analysis.ConclusionMetabolomics-based gene function tests provide additional value in the diagnostic trajectory of patients with suspected IMD by enhancing and accelerating diagnostic success.     

Economic study of neutropenia induced by myelotoxic chemotherapy

This article describes the economic and social impact of nutropenia induced by myelotoxic chemotherapy in patients with cancer during the period 1 January–31 December 1991. Neutropenia is a life-threatening complication of chemotherapy in patients with cancer. The episodes of (ever and infections originating from neutropenia require hospitalization of the patient until the granulocyte levels are restored. The calculation of the economic cost was based on the following parameters: length of stay in hospital, analytical tests performed on the patient, type and cost of drug therapy administered, blood transfusions performed, health assistance received, cost of isolation and absence from work. The overall economic cost of neutropenia in patients with cancer reached 329,775 pesetas ($2,893). Cost of the health-care staff was the largest budget item in relation to the total health resources estimated.     

舌脉诊法考

舌脉诊法主要观察舌腹面血管系统的变化,为我国所特有。《内经》首载舌脉刺血治疟、狂、忧虑无言、心病等,以盛即粗张为施术指征。晋以后发展为诊法,葛洪用于虏黄,巢元方用于噤黄与五色黄病情深浅判断,《医门方》用于预测难产母子吉凶,陈自明编《产难生死诀》以广流传。本法继承了络脉诊法的理论,重视络脉形色观察,以盛与青黑为逆,从血瘀痰郁辨证。明清未见明显发展,但作为奇穴刺血治舌肿、喉闭、黄疸并未中断,周学海发挥刘守真“玄府论”,倡舌细络瘀血说,难能可贵的是与今微循环障碍理论符合。１９６４年张赞臣再倡,研究者日众,临床多而基础少,认为对瘀证及肿瘤、肝病、肺心病有较高诊断价值。     

沙门氏菌属新诊断血清的研制

报道了研制的近１０余年来国际上新发现的沙门氏菌属８种抗原的抗血清及其２种多价血清,属国内首次制备;还用单相菌替代原有双相菌免疫制备了４种因子血清,不仅简化了生产,还提高了质量;上述１４种诊断血清均达到《中国生物制品规程》要求。这些血清的制成,使我国沙门氏菌的血清学诊断上了一个台阶,扩大了检测范围,减少漏检、误判。此外,还对沙门氏菌属的最新分类命名作简介。