以肺动脉高压为首发表现的先天性中枢性低通气综合征临床特征和基因分析

目的探讨先天性中枢性低通气综合征(CCHS)的临床和基因变异特征。方法分析1例首发表现为不明原因肺动脉高压的CCHS患儿的临床资料,并总结国内外文献中CCHS病例的临床特点、致病机制和基因变异情况。结果11月龄女婴,主要表现为浮肿、尿少、低血压、嗜睡、发绀、抽搐及颅内压增高。B型脑利钠肽、丙氨酸氨基转移酶升高,凝血酶原时间延长。颅脑磁共振示右侧额叶出血;超声心动图示中重度肺动脉高压。靶向捕获二代测序未发现可能的致病基因。采用Sanger法验证示患儿PHOX 2 B基因第3外显子存在多聚丙氨酸重复扩展变异,基因型为20/25。患儿入院后采用无创通气,睡眠时呼吸浅慢、微弱,伴血氧下降;血气分析提示二氧化碳潴留。随后改用夜间无创通气、降肺压药物治疗。复查肺动脉压力明显下降,生命体征稳定。随访至24月龄,夜间只需较低压力水平的无创通气,生长发育无异常。结论对于不明原因的肺动脉高压伴撤机困难患儿,需警惕CCHS。疑诊者应尽早针对CCHS相关基因进行靶向捕获二代测序及PHOX 2 B基因Sanger法验证。早期给予无创通气有望改善预后。     

Clinical features of patients with obsessive-compulsive disorder showing different pharmacological responses]

BACKGROUND: Although selective serotonin reuptake inhibitors (SSRIs) are the mainstay of pharmacological treatment for obsessive-compulsive disorder (OCD), some OCD patients do not show improvement. Sometimes, the addition of a low-dose atypical antipsychotic, such as risperidone, or olanzapine, to ongoing SSRI treatment has been shown to be effective. However, there are patients who still show no response after trials with this augmentation therapy. In the present study, we examined the clinical features of OCD patients who showed different responses to pharmacological treatment. SUBJECTS AND METHOD: Fifty OCD patients were divided into three groups according to their pharmacological responses: responders to SSRI (group A: n= 25), responders to SSRI with an atypical antipsychotic (group B: n= 15), and non-responders to both SSRI and SSRI with an atypical antipsychotic (group C: n= 10). We examined the clinical features such as age, sex, age of onset, duration of illness, types of obsessive-compulsive symptoms, severity, improvement after treatment, insight into disease, depression, comorbidity, involving family members in compulsive or ritualistic behavior, and the level of social adaptation of each OCD group. RESULTS: Twenty five patients showed a good response to SSRI monotherapy, 15 showed a response to antipsychotic augmentation, and 10 were non-responders to both SSRI and SSRI with an atypical antipsychotic. Significantly lower insight levels were observed only in group B and higher depressive levels in group C. OCD patients who were refractory to SSRI monotherapy showed comorbidity at a significantly higher frequency. OCD patients in group A showed significantly greater improvement, and group B showed inferior social adaptation after treatment. There were no significant differences in age, sex, age of onset, duration of illness, severity, involving family members in compulsive or ritualistic behavior, and social adaptation before treatment in the three OCD groups. CONCLUSION: There were differences in the clinical features of OCD patients who showed different responses to pharmacological treatment. Our results suggest that OCD is clinically and biologically heterogeneous. It may be important to divide OCD patients into subgroups for future studies.     

延边地区各种肝病患者HBsAg携带者及单项ALT增高者中抗-HCV分布

自1991年11月到1992年2月,用酶联免疫吸附试验对延边地区87例各种肝病患者.65例HBsAg携带者及5例单项ALT增高者血清共157份进行了抗-HCV检测.33例呈阳性,总阳性率为21.0％,其中单项ALT增高者高达80.O％.其次.急性肝炎为35.2％.慢性迁延性肝炎为18.2％.HBsAg携带者为6.2％,肝硬化为0％.     

14岁以下正常人群B19病毒抗体的测定

用间接免疫荧光法检测了延边地区１４岁以下不同年龄组的正常人群血清中抗Ｂ１９病毒抗体。结果如下：抗体阳性率为１２．９％，各年龄组抗体阳性率分布不均，主要在７．５％～２２．５％之间，几何平均效价为１：１９，各年龄组的几何平均效价在１：１６～１：２５之间；抗体效价分布在１：１０～１：８０之间，主要在１：４０以下，朝鲜族和汉族的病毒抗体阳性率分别为９．７％和１６．０％，几何平均效价分别为１：２１和１：１８．统计结果表明，各年龄组之间及朝鲜族和汉族之间，抗体阳性率和几何平均效价均无显著性差异（Ｐ＞０．０５）．     

Delayed manifestation of aortic stenosis after blunt abdominal trauma: Report of a case

Delayed manifestation of aortic stenosis caused by abdominal blunt trauma is rare. We report herein the case of a 67-year-old man who was taken to a nearby hospital after being crushed between a heavy truck and a wall. An emergency laparotomy was performed, revealing only a mesenteric tear which was repaired. He was discharged after an uneventful postoperative course; however, 1 month later he began to experience intermittent claudication, and presented to our hospital in December 1994, 1 year after the first operation. Angiography and enhanced computed tomography (CT) demonstrated infrarenal abdominal aortic dilatation with distal stenosis. Both the dilated and stenotic lesions were resected and bypass surgery was performed. Pathologic examination demonstrated that the intima had been lacerated circumferentially and everted distally, causing the aortic stenosis. To our knowledge, this is the first case of the delayed manifestation of traumatic aortic stenosis to be documented in Japan. The etiology of this rare complication of blunt trauma is described in this report.     

几种脑积水分流方法的临床评价(附75例报告)

目的总结75例不同病因引起脑积水的3种分流方法，以评价其临床疗效。方法分析75例脑积水形成的病因手术方法、手术结果、术后并发症等。结果除颅内肿瘤（5例）及术后癫痫致颅内出血（2例）共死亡7例外，手术疗效满意。但术后并发症以脑室心房分流术及脑室腹腔分流术后分流管堵塞的发生率较高。结论根据不同手术指征，选择不同分流方法，改进分流管，可减少手术损伤及术后分流管堵塞引流不畅等并发症。     

如何提高医学素材数码摄影的画面效果

介绍了数码影像技术在图像画面拍摄中的应用,使医学素材具有真实性和艺术性相结合的画面效果,从而提高了教学质量.     

Cholinergic amacrine cells of the chicken retina: a light and electron microscope immunocytochemical study

Cholinergic amacrine cells of the chicken retina were detected by immunohistochemistry using an antiserum against affinity-purified chicken choline acetyltransferase. Three populations of cells were detected: type I cholinergic amacrine cells had cell bodies on the border of the inner nuclear and inner plexiform layers and formed a prominent laminar band in sublamina 2 of the inner plexiform layer, while type II cholinergic amacrine cells had cell bodies in the ganglion cell layer, and formed a prominent laminar band in sublamina 4 of the inner plexiform layer. Type III cholinergic amacrine cell bodies were located towards the middle of the inner nuclear layer, and their processes were more diffusely distributed in sublaminas 1 and 3-5 of the inner plexiform layer. Type I and type II cells were present at densities of over 7000 cells/mm2 in central areas declining to less than 2000 cells/mm2 in the temporal retinal periphery. The cells were organized locally in a non-random mosaic, with regularity indices ranging from 3 peripherally to over 5 centrally. Neither at the light nor electron microscopic levels was a lattice of cholinergic dendrites of the kind reported by Tauchi and Masland [J. Neurosci. 5, 2494-2501 (1985)] detectable. Within the two prominent dendritic plexuses, a major feature of the synaptic interactions of the type I and type II cholinergic cells was extensive synaptic interaction between cholinergic processes. Apart from this, there was little, if any, input to cholinergic processes from non-cholinergic amacrine cells, but there was input from bipolar cells. Output from the cholinergic amacrine cell processes was directed towards non-cholinergic amacrine cells as well as other cholinergic amacrine cells, and ganglion cells.     

Early morphological changes in the striated muscles in normal and dystrophic chickens

Histological and histochemical analyses were performed on the anterior latissimus dorsi muscle (ALD, red muscle) and the posterior latissimus dorsi muscle (PLD, white muscle) in normal (line 412) and dystrophic chickens (line 413) from 19 day embryos to 6 weeks of age. PLD, the white muscle, in dystrophic chickens showed higher percentages of red and intermediate fibres than those of normal chickens during the early development of muscles. Increases of the oxidative enzyme activities and the numbers of NADH--TR formazan granules in the white fibres of PLD were already found at 1 week of age in dystrophic chicken. Fibre types, oxidative enzyme activities and NADH--TR formazan granules showed no differences in ALD between normal and dystrophic chickens. These results suggest that increases of oxidative enzyme activities and formazan granule numbers and incomplete fibre type differentiation in PLD of dystrophic chickens are early pathological processes in such birds.     

Genistein,a protein tyrosine kinase inhibitor,suppresses the fusogenicity of Moloney murine leukemia virus envelope protein in XC cells

Summary. XC cells are highly susceptible to syncytium formation by infection of ecotropic murine leukemia viruses (MLVs) and by expression of their envelope protein (Env). By this property, XC cells are widely used to determine titers of ecotropic MLVs. Number of plaques resulted from the syncytium formation in XC cells by ecotropic MLV infection is corresponding to number of the viral particles. XC cells had been established from a v-src-induced rat tumor. It has been reported that transformed cells are more sensitive to Mo-MLV-induced syncytium formation than non-transformed cells. To assess whether the transformation by v-src oncogene in XC cells is involved in the high sensitivity to ecotropic MLV-induced syncytium formation, XC cells were treated with genistein, a protein tyrosine kinase inhibitor. Genistein suppressed the syncytium formation between XC cells and ecotropic Env-expressing 293T cells. This result indicates that protein tyrosine kinase activity is associated with the high sensitivity of XC cells to ecotropic Env-induced syncytium formation.Received January 8, 2003; accepted May 26, 2003