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.     

Mapping the human genome

A biochemist involved in the planning of the Workshop on International Cooperation for the Human Genome Project reports on the meeting's accomplishments. The October 1988 workshop, held in Valencia, Spain, under international auspices, brought together scientists from 24 countries to discuss the present status and future prospects of the Human Genome Project. While the overall objective of the meeting was to promote international cooperation in mapping the human genome, ethical issues also were discussed. Most participants agreed on the need to establish international rules to guide the project, but believed that controls on research could be imposed only by scientists. The workshop ended with the issuing of the Valencia Declaration on the Human Genome Project, the text of which is included with Grisolia's report.     

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.     

台风伤害及其影响因素的现场流行病学研究

目的分析台风伤害的危险因素。方法采用现场流行病学调查方法,1:2配对的病例对照研究。对照组选伤害者邻居,按照同职业、同村庄、同性别和年龄±5岁配对。结果台风造成392人受伤住院治疗,50人死亡。伤害罹患率为27．3／10万,伤害致死率为11．3％,伤害死亡率3．1／10万。调查了209名受伤者和31名死亡者。发现伤害主要发生在台风来临前,其中台风来临前1～6小时之间有病例155例,占64．6％。209例伤害病例中,67．5％的病例曾得到过台风预警,但138名应答者中重视预警的只有47人,仅占34．0％。发现“台风来临时不在家中”[调整OR值(MH)=3．9 (95％CI:1．9～7．7)]、“台风来临前未得到预警”[调整OR值(MH)=3．3(95％CI:1．3～8．6)]和“虽得到预警但不重视”[调整OR值(MH)=17(95％CI:4．2～68)]是台风伤害的危险因素。结论外出、不重视预警是台风伤害的危险因素,应加强台风来临的预警宣传力度。     

Carrier detection in hemophilia A: a cooperative international study. I. The carrier phenotype

Eight laboratories in six countries cooperated to clarify several issues concerning the phenotypes of heterozygous carriers of hemophilia "A." Plasma levels of factor VIII (F.VIII:C, formerly VIII:C) and von Willebrand factor (VWF:Ag, formerly VIIIR:Ag) of carriers and normal women were determined by various "in-house" methods; a single lyophilized plasma standard was used for all assays. Analysis of the collated data from 336 carriers (296 obligatory carriers and 40 sporadic carriers) and 137 normal women showed that there was no difference in the F.VIII:C levels of "paternal" carriers (women who had obtained the abnormal gene from their fathers) and "maternal" carriers. Neither was there a difference in the VWF:Ag levels of normal women and either type of carrier. Age was found to have a significant effect on both F.VIII:C and VWF:Ag, values being higher at very young and very old ages, the minima occurring in the 25- to 30-year range. ABO blood type had a striking effect. Women of types A, B, and AB (designated non- O in the study), both normals and carriers, had significantly higher levels of both factors than did women of type O. Analysis by laboratories showed that differences in mean levels of both factors between laboratories were highly significant. It was concluded that age, ABO blood type, and laboratory variation should be taken into account in carrier detection.