Primary cardiac tumors associated with genetic syndromes: a comprehensive review

Various cardiac tumors occur in the setting of a genetic syndrome such as myxomas in Carney complex and rhabdomyomas in tuberous sclerosis. Tumor biology can be different in syndromic forms, and on imaging children sometimes demonstrate additional manifestations of the underlying syndrome. We discuss the imaging appearance of cardiac tumors occurring in the framework of a genetic syndrome, the findings that suggest an underlying syndrome, and the impact on management.     

便携式监测设备在成人阻塞性睡眠呼吸暂停低通气综合征诊断中的临床应用

阻塞性睡眠呼吸暂停低通气综合征(obstructive sleepapnea hypopnea syndrome, OSAHS)是一种常见病及多发病,是多种心、脑血管疾病及代谢性疾病发生、发展的独立危险因素^[1-4]。流行病学调查显示OSAHS在普通人群中的患病率为2%~4%[5].随着肥胖人群增加,OSAHS患病率逐年递增[6].因此.客观可靠的诊断OSAHS,对该病的临床防治具有重要意义。     

早产儿维生素A营养不良及其补充治疗的临床研究

目的　评价早产儿基础维生素A营养状况、与疾病的关系及常规补充的效果。方法　高效液相色谱法检测2006年1月至2007年2月北京大学第一医院出生24 h 内的早产儿（147名）血浆视黄醇浓度,足月儿（40名）脐血作为对照。根据临床治疗常规,早产儿静脉（1650 U/d）和（或）口服（750 U/d）补充维生素A,随 访早产儿血浆视黄醇浓度。结果　出生时,早产儿血浆视黄醇浓度低于足月儿,差异有统计学意义,分别为（0.161±0.051）μg/mL 和 （0.187±0.055） μg/mL（P = 0.005）。早产儿维生素A 缺乏（VAD）发生率高于足月儿,但差异无统计学意义。多元线性回归分析显示出生体重与血浆视黄醇浓度呈正相关。31 例早产儿补充维生素A 2周后,随访血浆视黄醇浓度显著升高,分别为（0.168±0.046） μg/mL和 （0.203±0.063）μg/mL（P = 0.014）;VAD发生率显著下降 ,分别为100%和48%（P < 0.001）。未发现补充剂量、方式对随访维生素A浓度的影响,未发现出生时血浆视黄醇浓度与新生儿期疾病的关系。结论　早产儿基础 维生素A营养状况不良,常规补充可在一定程度上改善2周时维生素A营养状况。     

达英-35联合二甲双胍预治疗对多囊卵巢综合征患者早期流产的影响

目的:探讨药物预处理对接受IVF-ET的多囊卵巢综合征(PCOS)患者早期流产率的影响。方法:回顾性分析因输卵管因素接受IVF-ET获得临床妊娠的PCOS患者共116例。其中,30例患者进入周期前经达英-35单药治疗(A组),75例患者进入周期前经达英-35联合二甲双胍治疗(B组),均治疗3～6个周期;11例患者进入周期前不用药物治疗(C组)。比较3组患者进行IVF-ET后的早期流产率。结果:B组早期流产率显著低于A组及C组;A组早期胚胎流产率与C组比较无统计学差异。结论:IVF-ET周期前使用二甲双胍预处理能显著降低多囊卵巢综合征患者的早期流产率。     

用PCR－RFLP方法研究江浙沪籍汉族人HLA－DQA1基因多态性

用ＰＣＲ技术扩增了９８例江浙沪籍汉族人ＨＬＡⅡ类ＤＱＡ１基因的第二个外显子，扩增产物经ＡｐａＬＩ，ＢｓａＪＩ，ＦｏｋＩ，ＨｐｈＩ，ＭｂｏⅡ和ＭｎｌＩ酶切分型，测定了江浙沪籍汉族人群８个ＤＱＡ１等位基因的分布频率，ＤＱＡ１＊０３０１为最常见等位基因。     

Corticospinal tract transection reduces H-reflex circadian rhythm in rats

In freely moving rats and monkeys, H-reflex amplitude displays a marked circadian variation without change in background motoneuron tone. In rats, the H-reflex is largest around noon and smallest around midnight. The present study evaluated in rats the effects on this rhythm of calibrated contusions of mid-thoracic spinal cord and mid-thoracic transection of specific spinal cord pathways. In 33 control rats, rhythm amplitude averaged 29.0(+/-2.6 S.E.)% of H-reflex amplitude. Contusion injuries at T8-9 that destroyed 53-88% of the white matter significantly reduced the rhythm to 18.9(+/-2.4)% of H-reflex amplitude. Transection of the ipsilateral lateral column, which contains the rubrospinal, vestibulospinal, and reticulospinal tracts, or bilateral transection of the dorsal column ascending tract did not affect rhythm amplitude or phase. In contrast, bilateral transection of the main corticospinal tract significantly reduced the rhythm to 14.7(+/-6.6)%. These results indicate that the H-reflex circadian rhythm depends in part on descending influence from the brain and that this influence is conveyed by the main corticospinal tract.     

Blood-brain barrier breakdown following gliotoxic drug injection in the brainstem of Wistar rats

Ethidium bromide (EB) causes local astrocytic disappearance, with glia limitans disruption and supposed blood-brain barrier (BBB) breakdown The aim of this study was to investigate the BBB integrity after the injection of 0.1% EB (group E) or 0.9% saline solution (group C) into cisterna pontis of Wistar rats. Brainstem fragments were collected from 24 hours to 31 days post-injection for ultrastructural study and GFAP immuno-histochemical staining. Some animals received colloidal carbon ink by intravenous route at the same periods. In rats from group C, there was no sign of astrocyte loss and no leakage of ink from blood vessels in the injection site. In group E, astrocyte disappearance began at 48 hours and some areas were still devoid of astrocytic processes 31 days after. Leakage of carbon particles was seen from 48 hours to 7 days in the EB-induced lesions. Tight junctions did not show any detectable ultrastructural change due to the lack of perivascular astrocytes.     

Reactivation of cocaine conditioned place preference induced by stress is reversed by cholecystokinin-B receptors antagonist in rats

The effects of different cholecystokinin (CCK) receptor antagonists (devazepide and L365,260) on cocaine or stress-induced reactivation of cocaine conditioned place preference (CPP) were investigated in rats. After receiving alternate injection of cocaine (10 mg/kg) and saline for 8 consecutive days, the rats spent more time in the drug-paired side (cocaine CPP) on day 9. These animals did not show cocaine CPP on day 31 following saline-paired training daily from days 10 to 30 (21-day extinction). However, a single injection of cocaine (10 mg/kg) or 15 min of intermittent footshock could reinstate CPP on day 32 with significant more time spent in the drug-paired side in comparison with that on day 0. Systemic injection of CCK-A receptor antagonists, devazepide (0.1 and 1 mg/kg, i.p.), 30 min before cocaine priming, significantly attenuated cocaine-induced reinstatement of CPP, while CCK-B receptor antagonist, L365,260 (0.1 and 1 mg/kg, i.p.), did not show a similar effect. In contrast, pretreatment with L365,260 (0.1 and 1 mg/kg, i.p.) but not devazepide (0.1 and 1 mg/kg, i.p.) significantly blocked stress-induced reinstatement of CPP. In another experiment, CCK-A or B receptor antagonists were infused into nucleus accumbens or amygdala to determine which brain area are involved in the role of different CCK receptors in stress or drug-induced relapse to cocaine seeking. The results show that infusion of the devazepide (10 microg) into the nucleus accumbens significantly inhibited the cocaine-induced reinstatement of CPP, while infusion of devazepide (1 and 10 microg) into amygdala did not affect cocaine-induced reactivation of CPP. Interestingly, infusion of L365,260 (1 and 10 microg) into both nucleus accumbens or amygdala significantly attenuated or blocked stress-induced reinstatement of CPP. These findings demonstrate that CCK-A and B receptor have different roles in relapse to drug craving and further suggest that the brain areas involved in the CCK receptors on reinstatement of drug seeking are not identical. CCK-B receptor antagonists might be of some value in the treatment and prevention of relapse to stress-induced to drug craving following long-term detoxification.     

Transplantation of EGF-responsive neurospheres from GFP transgenic mice into the eyes of rd mice

The isolation of stem cells from various regions of the central nervous system has raised the possibility of using them as a donor cell source for cell transplantation, where they offer great promise for repair of the diseased brain, spinal cord, and retina. Here, we have studied the migration, integration, and differentiation of EGF-responsive neurospheres isolated from the brains of green fluorescent protein transgenic mice and transplanted into the eyes of mature rd mice, a model of retinitis pigmentosa. While grafts of freshly isolated postnatal day 8 retina expressed many markers characteristic of mature retina (e.g. rhodopsin, protein kinase C), very few of the grafted cells migrated into host retina. EGF-responsive neurospheres, conversely, readily migrated into and integrated with the remaining host retina, but showed a very limited ability to differentiate into mature retinal neurons. While the progenitor cells used here show remarkable ability to integrate with host retina and develop some attributes of retinal cells, the failure to fully differentiate into retinal cells suggests that they already express some level of terminal commitment that precludes using them to replace lost photoreceptors.