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71.
Partial duplication 16q: report of two affected siblings resulting from a maternal translocation and literature review 总被引:1,自引:0,他引:1
Two siblings with a partial duplication 16q, born to a woman with a balanced translocation (6;16), are described. The first infant died at 8 weeks of age; the second died at 4 months. Fifteen other cases of duplications involving 16q have been reported, all of them derived from a balanced parental translocation. The most frequent physical findings have included dysmorphic facies characterized by high forehead, prominent nose, antimongoloid slant, malformed ears, and micrognathia, as well as flexion contractures of the joints, deformity of the feet, and genital hypoplasia in the male. Anorectal, intestinal and cardiac malformations were less frequent findings. Most of the affected infants died at ages ranging from 8 days to 6 months. The few with longer survival (up to 6 years) had a shorter, more distal segment duplication of chromosome 16. Although intrauterine growth retardation and microcephaly were not always present at birth, most of the infants had postnatal growth failure. The phenotypic and clinical findings of the two infants in this report are compared with those of previously reported cases, from which there appears to be correlation of the length of the 16q duplication with clinical phenotype and survivals. 相似文献
72.
Mouse blastocysts release a lipid which activates anandamide hydrolase in intact uterus 总被引:2,自引:0,他引:2
Maccarrone M DeFelici M Klinger FG Battista N Fezza F Dainese E Siracusa G Finazzi-Agrò A 《Molecular human reproduction》2004,10(4):215-221
Anandamide (N-arachidonoylethanolamine, AEA) is a major endocannabinoid, known to impair mouse pregnancy and embryo development and to induce apoptosis in blastocysts. Here we show that mouse blastocysts rapidly (within 30 min of culture) release a soluble compound, that increases by approximately 2.5-fold the activity of AEA hydrolase (fatty acid amide hydrolase, FAAH) present in the mouse uterus, without affecting FAAH gene expression at the translational level. This "FAAH activator" was produced by both trophoblast and inner cell mass cells, and its initial biochemical characterization showed that it was fully neutralized by adding lipase to the blastocyst-conditioned medium (BCM), and was potentiated by adding trypsin to BCM. Other proteases, phospholipases A(2), C or D, DNAse I or RNAse A were ineffective. BCM did not affect the AEA-synthesizing phospholipase D, the AEA-binding cannabinoid receptors, or the selective AEA membrane transporter in mouse uterus. The FAAH activator was absent in uterine fluid from pregnant mice and could not be identified with any factor known to be released by blastocysts. In fact, platelet-activating factor inhibited non-competitively FAAH in mouse uterus extracts, but not in intact uterine horns, whereas leukotriene B(4) or prostaglandins E(2) and F(2)alpha had no effect. Overall, it can be suggested that blastocysts may protect themselves against the noxious effects of uterine endocannabinoids by locally releasing a lipid able to cross the cell membranes and to activate FAAH. The precise molecular identity of this activator, the first ever reported for FAAH, remains to be elucidated. 相似文献
73.
Kenji Kawaguchi Shuji Kishida Riki Okeda Nobuaki Funata Morio Koike 《Pathology international》1988,38(3):351-359
An unusual case of encephalomyeloneuritis associated with germ cell tumor with mature and immature teratoma arising in the mediastinum is presented. There was an unusually long interval from the onset of neurologic symptoms to the development of malignancy. The histopathology, characterized by limbic encephalitis, brain stem encephalitis, cortical cerebellar degeneration and myeloneuritis, was similar to that of paraneoplastic encephalomyeloneuritis previously described in the literature. Virological and immunological studies failed to demonstrate any causative agents or autoantibodies reacting with brain tissue. The causal relationship between the malignant neoplasm and encephalomyeloneuritis thus seems to be very complex. 相似文献
74.
In situ localization of mRNA for the fibrinolytic factors uPA, PAI-1 and uPAR in endometriotic and endometrial tissue 总被引:4,自引:0,他引:4
Endometriotic tissue grows invasively. The plasminogen-activating system is suggested to participate in degradation of extracellular matrix (ECM) and modulation of cell adhesion and migration. We have previously demonstrated elevated levels of the fibrinolytic factors urokinase plasminogen activator (uPA) and plasminogen activator inhibitor (PAI-1) in endometriotic tissue and endometrium from women with endometriosis. The aim of the present study was to localize the uPA, PAI-1 and urokinase plasminogen activator receptor (uPAR) mRNA in endometriotic tissue and in endometrium both from women with and without endometriosis. With in situ hybridization, we found that uPA mRNA seems to be up-regulated in endometriotic glands and endometrial stroma as well as PAI-1 mRNA in endometriotic and endometrial stroma from women with endometriosis. uPAR mRNA likewise appears to be up-regulated in both glands and stroma in endometriotic tissue and in endometrial glands from patients compared to endometrial glands and stroma from healthy women. These differences might be important for menstrual shedding and adherence of endometrial fragments to peritoneal lining in women developing endometriosis and for the invasive growth of endometriotic tissue. 相似文献
75.
T. S. Olsen 《Acta neurologica Scandinavica》1986,73(4):321-337
Occlusions of the middle cerebral artery (MCA) are mostly of embolic origin (appr. 80%) and give rise to about one third of all ischemic strokes, most of these being major strokes. MCA occlusions lasting for less than 1/2 h are tolerated without occurrence of permanent tissue damage. Occlusions lasting between 1/2 h to 4-8 h lead to permanent tissue damage and neurological deficits that are proportional to the duration of occlusion. Maximal tissue damage is obtained after 4-8 h occlusion. A cerebral blood flow of 8-23 ml/100 gr/min is sufficient for cellular viability but insufficient for normal tissue function ("ischemic penumbra"). Cellular function is completely abolished in the interval 8-16 ml/100 gr/min and flow at that level is tolerated only for 1-3 h before neuronal death ensues. In the interval 18-23 ml/100 gr/min there is some functional activity although it is reduced. Experimental and clinical evidence suggests that flow in this interval may be tolerated for several days, months or even longer ("chronic ischemic penumbra"). After MCA occlusion the blood flow falls below 8 ml/100 gr/min in most cases and permanent MCA occlusion always leads to relatively large areas of frank infarction. The ischemic infarcts may be surrounded by collaterally perfused areas where the blood flow is pressure-dependent (impaired autoregulation) and quite commonly insufficient for normal neuronal function (below 23 ml/100 gr/min). Such collaterally perfused areas may include a "chronic ischemic penumbra". Emboli causing MCA occlusions commonly disintegrate and/or migrate more peripherally within the first few weeks post stroke. This leads to reperfusion and changes of ischemic infarcts into hyperemic infarcts where flow is severely increased. The vascular reactivity is completely abolished in hyperemic infarcts and the hyperemic state lasts for about two weeks. Probably, anemic infarcts are equivalent to ischemic infarcts while the hemorrhagic variety is equivalent to hyperemic infarcts. The "partial infarct" with selective neuronal necrosis occurs in experimental animals after MCA occlusions of less than four h but not after permanent MCA occlusion. The significance of partial infarction in human stroke is not clarified. The extent of irreversible tissue damage can be reduced only if therapy sets in within 4-8 h after the occlusion. If a "chronic penumbra" exists the extension of reversible tissue damage can be reduced if therapy aimed at increasing the blood flow in the penumbra sets in within weeks or even months after the stroke.(ABSTRACT TRUNCATED AT 400 WORDS) 相似文献
76.
郭振军左燕廉江平周楠李茁朱亚宁张鹏 《中国卫生质量管理》2022,(9):068-71
通过开展以“合理用药”为核心的重点监控药品管理,促进合理用药水平提升。采取事后处方点评及处方前置审核,建立和完善重点监控药品管理方案,对不合理用药进行拦截、宣教、绩效处罚、限量采购、约谈等,实现了重点监控药品规范化管理。实践后,不合理医嘱减少,处方点评合格率提升,辅助用药种类减少。认为建立重点监控药品管理的相关制度及流程,对提升合理用药水平有一定促进作用。 相似文献
77.
目的:运用层次分析法(AHP)确定医疗设备维护中的优先级,增加医疗设备的可用性并降低维护成本。方法:采用AHP对医疗设备标准、子标准和等级进行评定获取其关键评分,基于多标准决策方法确定医疗设备维护的优先级,对选定设备进行评估,以准分子激光器和视力计为例,根据其标准权重、子标准权重和强度计算其总评分,确定维护优先级。结果:医疗设备维护的优先顺序由医疗设备评分的评估结果决定,医疗设备风险是医学技术人员在确定医疗设备维护优先级时的最重要标准。准分子激光器和视力计的关键评分权重分别为0.877和0.373,准分子激光器相比视力计在设备维护方面具有更高的优先级。结论:医疗设备维护优先级评估模型能确定医疗设备维护优先级,根据优先级规模规划医疗设备维护方案,以使资源更多地集中于具有高和中关键度的医疗设备。 相似文献
78.
刘晨辰杨娟汪春红史廷明张瑞迪张丽华 《中国卫生质量管理》2021,(5):044-47
目的探讨如何将以资源为基础的相对价值比率(RBRVS)与关键绩效指标法(KPI)相结合,运用于公立医院绩效考核体系实践中。方法分析样本医院绩效考核体系的应用效果,根据医院总体目标,经过点值测算、指标选择,建立了一套具有医院特色的改良型RBRVS-KPI模式绩效考核体系。结果经实践,医疗质量和运行效率大幅度提高,在一定程度上促进了医院管理的精细化。结论RBRVS-KPI模式下的绩效考核体系较唯财务导向的绩效模式更能体现医护人员劳动价值,值得探索与推广。 相似文献
79.
目的研究子宫腺肌症患者临床特点,为子宫腺肌症患者的临床管理提供理论基础。方法收集2012年3月至2015年9月于北京协和医院妇产科手术且确诊的291例子宫腺肌症患者资料,对临床检查结果进行统计学分析。结果子宫腺肌症患者发病的中位年龄为[34(29.0,40.0)]岁,确诊的中位年龄为[40(35.0,44.0)]岁。所有纳入患者中,9.3%的患者无症状,17.5%的患者因不孕症就诊,39.5%的患者发现月经异常,71.8%的患者伴疼痛症状。38.8%的患者合并子宫内膜异位症,58.1%的患者合并子宫肌瘤。72.4%的患者术前发现血清糖类抗原125(CA125)升高,超声扫描结果显示85.6%的患者子宫肌层的回声不均匀。接受子宫病灶切除术的患者208位(71.5%),接受全子宫切除伴或不伴附件切除术的患者83位(28.5%);接受经腹手术、腹腔镜手术及宫腔镜手术患者的比例分别为37.8%、59.5%和2.7%。结论子宫腺肌症患者发病年龄较轻,多伴有月经异常、疼痛及不孕症状,合并症以卵巢的子宫内膜异位症多见。因此,应根据子宫腺肌症患者的临床表现及生育要求制定个体化治疗方案。 相似文献
80.
Baek KH 《Molecular human reproduction》2004,10(5):291-297
Recent studies indicate that a number of factors including chromosomal abnormalities, immunological feto-maternal rejection, hormonal irregulation and anatomical factors are involved in provoking recurrent pregnancy loss (RPL). This indicates that normal cellular regulation of these factors is required for maintaining normal pregnancy. In addition, it is expected that biological processes for maintaining normal pregnancy require a series of differential gene expression. As expected, our previous investigations revealed that there are >/=30 genes showing different levels of expression between normal and RPL patients. In addition, other research groups have also identified a number of genes that are expressed aberrantly in pregnancy failure. In this review, recent study on aberrant expression levels of genes, which are grouped as immunity-related, angiogenesis-related, apoptosis-related and other groups of genes, will be discussed. 相似文献