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目的:描述胚胎种植前遗传诊断在1例携带Ⅰ型白细胞黏附缺陷病(LAD-1)携带者并完成健康妊娠夫妇中的应用。设计:病例报道。机构:大学医院生殖中心。患者:1例男女双方都是LAD-1携带者的夫妇,女方CD18基因的外显子4携带有G400A置换,男方的外显子5携带有C562T置换。干预:标准体外受精(IVF)后第3天行卵裂期活检和分裂球遗传分析以检测2处突变以及21号染色体标记物。主要观察指标:1个未罹患LAD-1婴儿的出生。结果:得到15个卵母细胞,其中10个受精。8个胚胎适宜胚胎活组织检查。  相似文献   
3.
Pre-eclamptic toxaemia (PET) may be associated with both endothelial dysfunction (ED) and sleep-disordered breathing (SDB). It was hypothesised that females with PET would demonstrate both SDB and ED, and that a correlation between these two would suggest a potential causative association. A total of 17 females with PET and 25 matched females with uncomplicated pregnancy were studied. They underwent a nocturnal ambulatory sleep study (using Watch_PAT100) and noninvasive evaluation of endothelial function utilising the reactive hyperaemia test (using Endo_PAT 2000). A higher ratio of post- to pre-occlusion pulse-wave amplitude (endothelial function index (EFI)) indicated better endothelial function. Females with PET had a significantly higher respiratory disturbance index (RDI) and lower EFI than controls (18.4+/-8.4 versus 8.3+/-1.3.h(-1), and 1.5+/-0.1 versus 1.8+/-0.1, respectively). Blood pressure significantly correlated with RDI and with EFI. EFI tended to correlate with RDI. In conclusion, these results suggest that both sleep-disordered breathing and endothelial dysfunction are more likely to occur in females with pre-eclamptic toxaemia than in females with uncomplicated pregnancies. The current authors speculate that respiratory disturbances contribute to the functional abnormality of the blood vessels seen in females with pre-eclamptic toxaemia, although causality cannot be determined based on this study.  相似文献   
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A mouse monoclonal antibody (MAb 6B9, isotype IgM) was raised against autopsy tissue samples from the central nervous system (CNS) of multiple sclerosis (MS) patients. By immunofluorescence microscopy, MAb 6B9 intensely stains most or all cells in fetal rats. However, MAb 6B9 differentially stains various cell types in adult rats. Neurons, ependymal cells, and adrenal chromaffin cells are stained intensely, whereas astrocytes and oligodendrocytes are not stained. The 6B9-reactive antigen (6B9 antigen) is sensitive to periodic acid, but insensitive to treatment with protease, RNase, or hyaluronidase. Results from immunofluorescence microscopy on semithin sections and cultured neuroblastoma cells indicate that 6B9 antigen is intracellular. This is supported by immunoelectron microscopy, where labeling for 6B9 antigen appears in the cytoplasm distinct from any identifiable organelle. Further studies on 6B9 antigen should reveal its chemical nature as well as the significance of developmental changes in its distribution.  相似文献   
5.
Ninety-five patients out of total 190 cases of aluminium phosphide (ALP) poisoning, who exhibited ECG changes were studied for incidence, type and pattern of ECG abnormalities, their effect on mortality and their relationship with histopathology of heart. Its incidence in the present study was 50%. The arrhythmias, conduction disturbances and ischaemic pattern occurred more or less in equal frequency. Certain ECG abnormalities which had not been reported previously ie, early repolarisation syndrome, varied sino-atrial blocks, bradycardia-tachycardia syndrome and electrical alternans were observed in this study. The clinical profile of these cases was similar irrespective of whether patients had ECG abnormalities or not. Shock was the cardinal feature. There was no effect of ECG abnormalities on mortality. The mortality which was otherwise high, depended upon severity of poisoning, dose of poison consumed, duration of shock, failure of response of shock to resuscitative measures and severe hypomagnesaemia. The pathogenesis of ECG abnormalities is still obscure. Hypomagnesaemia was observed in all the 18 cases studied, irrespective of ECG abnormalities. However, these were common when hypomagnesaemia was severe. Hypoxaemia and shock were not the contributory factors for these abnormalities. Autopsy revealed stereotyped histopathological changes of toxic myocarditis independent of ECG findings.  相似文献   
6.
颈丛阻滞、硬膜外阻滞下甲状腺手术应激反应的比较   总被引:2,自引:0,他引:2  
目的 :比较颈丛阻滞、硬膜外阻滞下甲状腺手术应激反应的大小。方法 :选择ASAⅠ~Ⅱ级 ,女性 ,甲状腺手术患者 30例 ,年龄 2 2~ 5 5岁 ,术前无呼吸、循环和内分泌疾病 ,随机分为颈丛阻滞组 (颈丛组 ) 15例 ,硬膜外阻滞组(硬膜外组 ) 15例 ;颈丛阻滞选用 0 .8%利多卡因和 0 .2 5 %布比卡因混合液 ,以C4一点法行双侧深浅丛阻滞 ;硬膜外阻滞选用 1.3%利多卡因和 0 .15 %丁卡因混合液 ,穿刺点选择C4~ 5或C5~ 6间隙 ,采用侧卧位直入法 ,并向头置管 3cm ;分别测定并记录麻醉前、麻醉后 2 0min、切皮、分上极、切腺体和术毕共六个时点的血糖、血压和心率的变化。结果 :两组病例各时点血糖均逐步上升 ,于分上极、切腺体和术毕血糖值与麻醉前比较有显著性差异 (P <0 .0 1) ;硬膜外组只在分上极时SBP与麻醉前比较有差异外 (P <0 .0 5 ) ,而颈丛组在分上极、切腺体时DBP与麻醉前比较有差异 (P <0 .0 5 ) ,SBP、MAP与麻醉前比较有显著性差异 (P <0 .0 1)。结论 :本研究表明颈丛阻滞、硬膜外阻滞均不能完全抑制甲状腺手术的应激反应 ,在稳定甲状腺手术循环功能方面硬膜外阻滞优于颈丛阻滞  相似文献   
7.
Hypoxiaisadirectfactorcausinghypoxicpul monaryhypertension (HPH) .hypoxiainduciblefac tor 1α (HIF 1α)isfoundtobethemostcrucialfactorsofarwhichmediatesthecellularresponsetohypoxi a[1] .OurpreviousstudyrevealedthatoverexpressionofHIF 1andendothelin 1(ET 1…  相似文献   
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As in military war, a firm may respond to the very competitive health care environment by either attacking one or more competitors or defending itself. The various attack and defense strategies available are described and illustrated in the context of health care marketing. The author concludes with some observations on implementing marketing warfare in health care.  相似文献   
10.
Buprenorphine was introduced as a potent analgesic with low abuse potential. Reports of buprenorphine abuse by opiate abusers have accumulated over the years, highlighting its use as a cheap alternative to heroin. The lower potency compared with heroin is being compensated by using a cocktail of buprenorphine with benzodiazepines or cyclizine. This study of 18 cases seen over 3 years broadly confirms these findings. Four cases reported haematemesis during acute withdrawal, a symptom not reported in earlier studies.  相似文献   
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