A Chinese adolescent girl with Fechtner-like syndrome

We describe a 15-y-old girl with Fechtner-like syndrome, who is the first Chinese reported to have this rare syndrome. She presented with left homonymous hemianopia and neuroimaging revealed haemorrhage in both parietal and occipital lobes. Peripheral blood smear showed macrothrombocytopenia and intracytoplasmic inclusion bodies inside leucocytes. Thrombocytopenia and proteinuria responded to intravenous immunoglobulin and pulsed methylprednisolone. This case illustrates that life-threatening haemorrhage can occur in patients with Fechtner syndrome. Although there was no effective treatment reported in the literature, high dose steroid and immunoglobulin seemed to be useful in our patient. Our patient also had nephritic-nephrotic syndrome with renal insufficiency, which is unusual in adolescent female patients.     

Functional Analysis of B-L (Ia-Like) Antigen-Bearing Chicken Peripheral Blood Cells

The functional of B-L (Ia-equivalent)-positive (B-L+) adn -negative (B-L-) chicken peripheral blood lymphocytes (PBL) was studied in vitro and in vivo. The PBL were first stained in direct immunofluorescence tests with a fluorescein isothiocyanate-labelled anti-B-L alloantiserum and then separated by means of a fluorescence-activated cell sorter. In agreement with our previous findings, B-L- cells showed functional properties of T lymphocytes, responding to concanavalin A and phytohaemagglutinin-P in vitro and inducing a graft-versus-host (GVH) reaction when injected into allogeneic embryos. Sorted B-L+ gave no responses in any of these assays. Neither B-L+ nor B-L- cells, when tested alone, responded significantly to pokeweed mitogen, but mixtures of the two restored the responsiveness to that of the original unsorted suspension. Of the B-L+ PBL, 10% were T cells, which may account for the low GVH reactivity given by this population.     

二十碳五烯酸对三种肝癌细胞系作用的实验研究

目的 探讨二十碳五烯酸（eicosapentaenoic acid,EPA)对3种肝癌细胞系作用。方法 EPA作用于HepG2（携带有野生型p53基因）、Huh7（携带有突变型p53基因）和Hep3B(p53基因缺失）这3种肝癌细胞系,通过细胞计数、DNA电泳、流式细胞技术和末端转移酶标记技术等来检测EPA对这3种细胞系的作用和可能的机制。结果 EPA主要是通过诱导HepG2肝癌细胞系的细胞凋亡来抑制其生长,而且这种抑制作用呈现出时间和剂量依赖的关系。而且同时发现EPA对于Huh7和Hep3B这两种肝癌细胞系无明显抑制作用。结论 细胞凋亡的诱导可能是EPA抑制HepG2肝癌细胞系生长的主要机制。而且p53基因可能参与EPA诱导HepG2细胞系细胞凋亡的过程。     

鼻咽刷片细胞学检查和EB病毒检测在鼻咽癌诊断中的意义

目的：探讨鼻咽细胞学检查结合DNA核型判断和细胞EB病毒检测在可疑鼻咽癌病人筛查中的作用。方法：分别对66例可疑鼻咽癌就诊病人作鼻咽刷片细胞学诊断和应用CAS200图像分析仪测定涂片细胞DNA含量,细胞学癌阳性病例同时作EB病毒编码RNA（EBERs)原位杂交。结果：与组织学诊断相比,细胞学诊断和DNA非二倍体诊断癌的敏感性分别为66％和55％,两者结合判断不能提高敏感性,并且假阴性率高;细胞学癌阳性病例的癌细胞核EBERs阳性率92．1％,其中6例DNA二部体核型病例均呈EBERs阳性,可诊断为鼻咽癌。结论：鼻咽细胞学检查结合DNA核型判断不能提高可凝鼻咽癌病人的诊断率,不适用于鼻咽癌筛查。细胞涂片的EB病毒原位杂交方法,在鼻咽癌可疑病人的诊断和鉴别诊断上具有重大实用价值,在鼻咽癌筛查的作用有待进一步研究。     

Oculocutaneous albinism

Oculocutaneous albinism represents a group of inherited skin disorders characterized by a generalized reduction of cutaneous, ocular and pilar pigmentation from the time of birth. Oculocutaneous albinism types 1 and 2 are the most common, but several other types have been described. A defect in the melanin synthesis pathway, resulting in reduced formation of melanin, is responsible for oculocutaneous albinism. Aetiology, clinical manifestations, diagnosis and management are discussed.