Subclinical course of adult visceral Niemann–Pick type C1 disease. A rare or underdiagnosed disorder?

Summary  We present the third case of Niemann–Pick disease type C without neurological symptoms. The patient was a 53-year-old woman without significant prior health problems who died of acute pulmonary embolism. Autopsy findings of hepatosplenomegaly, lymphadenopathy and ceroid-rich foam cells raised the suspicion of the visceral form of acid sphingomyelinase deficiency (Niemann–Pick disease type B; NPB) or a much rarer disorder, variant adult visceral form of Niemann–Pick disease type C (NPC). To verify the histopathological findings, SMPD1, NPC1 and NPC2 genes were analysed. Two novel sequence variants, c.1997G>A (S666N) and c.2882A>G (N961S) were detected in the NPC1 gene. No pathogenic sequence variants were found either in the SMPD1 gene mutated in NPB or in NPC2 gene. The pathogenicity of both NPC1 variants was supported by their location in regions important for the protein function. Both variations were not found in more than 300 control alleles. Identified sequence variations confirm the diagnosis of the extremely rare adult visceral form of Niemann–Pick disease type C, which is otherwise dominated by neurovisceral symptoms. Although only three patients have been reported, this (most probably underdiagnosed) form of NPC should be considered in differential diagnosis of isolated hepatosplenomegaly with foam cells in adulthood. Electronic supplementary material  Supplementary material is available for this article at     

医科院校学生心理危机管理浅探

结合医科院校学生心理危机管理的实践，阐述大学生心理危机的内涵、类型、特征及心理危机管理的特性，并从建立预警系统、增设心理委员、危机处理的专业化及危机干预策略等方面探讨在医科院校加强学生心理危机管理的对策。     

p53 expression and disease outcome of breast cancer patients undergoing primary chemotherapy with anthracycline-containing regimens

Primary chemotherapy administered to breast cancer patientsis the best model to identify baseline features able to predictwhich patients may be most likely to benefit or not from a cytotoxicregimen. In the March issue of Annals of Oncology two papersevaluated the predictive role of immunohistochemical p53 expressionon     

顽固性下颌磨牙根尖周炎患者的治疗和护理讨论

目的治疗顽固性下颌磨牙根尖周炎。并尽量减少对牙周膜的机械性损伤。方法采用下牙槽神经阻滞麻醉,并配合局部麻醉。拔牙钳的尖置放于釉牙骨质界以上,采用颊舌向摆动的方式将患牙拔下。在不断滴有生理盐水的条件下,立即用高速车针磨除患牙根尖2￣3mm的牙体组织,根管内3￣5mm深的充填物要用圆钻将其清除,再用牙胶尖和氢氧化钙糊剂充填。将患牙再植入牙槽窝之前,务必用生理盐水将牙槽窝冲洗干净,要求严格控制在15分钟内完成再植,并尽量减少对牙周膜的机械性损伤。再植牙齿一般不需要夹板固定,必要时可采用缝线缝合固定。结果我们选择的5例患者,术后随访1￣2年,1例患者再植失败,4例患者再植成功。结论特异性再植术治疗顽固性下颌磨牙根尖周炎疗效理想,而且较易掌握。