前扣带束的应用解剖定位

为了提高立体定向扣带束毁损术的疗效,本文对30例(60侧)成人正常脑标本探索在大脑原点前、扣带束毁损术最佳靶点的位置、坐标值及其毗邻关系。研究结果认为最佳手术部位应选择在原点前12mm处,该束高度为4.40±4.20mm、宽度为6.60±3.06mm、中心点距x轴的坐标值为6.30±2.20mm、该处扣带束的最低点与侧脑室前角的最高点间的距离为4.00±3.40mm,供临床参考。     

A solitary plasmacytoma of donor origin arising 14 years after kidney allotransplantation

Summary Allotransplantation of solid organs transfers passenger leucocytes which may give rise to a state of persistent microchimaerism. In this report we describe the case of a patient who developed a solitary plasmacytoma in a transplanted kidney more than 10 years after allografting. The diagnosis was established on the basis of the presence of a monoclonal IgG kappa peak in the serum, and light chain proteinuria, the plasmacytoid features of tumour cells including cell surface expression of IgG, kappa light chains, CD20, CD38 and CD56, the absence of lytic bone lesions and a normal bone marrow biopsy, and the disappearance of the monoclonal IgG peak after graft nephrectomy. A donor origin of the tumour was established by HLA DNA typing of tumour, tumour-free kidney tissue, and peripheral blood leucocytes, respectively.     

Is it time to reconsider initial antibiotic treatment strategies for severe urinary tract infections in Europe?

Until recently, most reported cases of bacteraemia caused by multidrug-resistant strains of Enterobacteriacae producing an extended-spectrum beta-lactamase (ESBL) in Europe have been nosocomial in origin. However, increasing numbers of reports of community-acquired bacteraemia and urinary tract infection caused by ESBL-producing microorganisms suggest that the geographical origin of patients should be taken into account as a risk-factor for possible ESBL production. Early identification of patients at high-risk of infection with ESBL-producing microorganisms, based on their geographical origin and travel history, should help to optimise initial antibiotic treatment strategies for severe urinary tract infections in Europe.     

Duplicated origin of right vertebral artery with rudimentary and accessory left vertebral arteries

Summary We observed a rare cerebrovascular anomaly in a patient with brain-stem infarction. Two right vertebral arteries arose from the subclavian artery and communicated directly with each other under the transverse foramen of the fourth cervical vertebra. The left vertebral artery consisted of a rudimentary artery that arose from the left subclavian artery, ran through the transverse foramen of the sixth cervical vertebra and then tapered down to disappear at the fourth/fifth cervical vertebrae, plus a second, accessory artery that arose from a branch of the left thyrocervical trunk, ran through the transverse foramen of the fifth cervical vertebra and tapered off to disappear at the first/second cervical vertebrae.     

Rapid determination of trisomy 18 parental origin using fluorescent PCR and small tandem repeat markers: case reports

Trisomy 18 is the second most common genetic defect after trisomy 21, almost 90% of which are due to additional chromosome from the mother. The parental origin of the additional chromosome can, if required, be determined by two methods: karyotyping, which takes several weeks; or, more recently, by polymerase chain reaction (PCR) which is often problematic. Fluorescent PCR of small tandem repeats (STRs) can determine the parental origin in the majority of cases within 5 h. Although the incidence of paternal origin is known for both trisomy 21 and trisomy 18, this technique can rapidly determine the parental origin in cases where there is insufficient samples to perform conventional tests. Determining parental origin by these methods may also have clinical significance in the diagnosis of chromosomal translocations or in the diagnosis of genetic disease using linkage analysis.     

Age and sex based genetic locus heterogeneity in type 1 diabetes

BACKGROUND: Two genome scans for susceptibility loci for type 1 diabetes using large collections of families have recently been reported. Apart from strong linkage in both studies of the HLA region on chromosome 6p, clear consistent evidence for linkage was not observed at any other loci. One possible explanation for this is a high degree of locus heterogeneity in type 1 diabetes, and we hypothesised that the sex of affected offspring, age of diagnosis, and parental origin of shared alleles may be the bases of heterogeneity at some loci. METHODS: Using data from a genome wide linkage study of 356 affected sib pairs with type 1 diabetes, we performed linkage analyses using parental origin of shared alleles in subgroups based on (1) sex of affected sibs and (2) age of diagnosis. RESULTS: Among the results obtained, we observed that evidence for linkage to IDDM4 on chromosome 11q13 occurred predominantly from opposite sex, rather than same sex sib pairs. At a locus on chromosome 4q, evidence for linkage was observed in sibs where one was diagnosed above the age of 10 years and the other diagnosed below 10 years of age. CONCLUSIONS: We show that heterogeneity tests based on age of diagnosis, sex of affected subject, and parental origin of shared alleles may be helpful in reducing locus heterogeneity in type 1 diabetes. If repeated in other samples, these findings may assist in the mapping of susceptibility loci for type 1 diabetes. Similar analyses can be recommended in other complex diseases.     

Origin and filiation of human plasmacytoid dendritic cells

Human plasmacytoid dendritic cells represent a rare population of leukocytes which produce high amounts of type I interferon in response to certain viruses. Although those cells were first described in 1958, there are still unsolved issues related to their origin and function. Recently, a leukemic counterpart of plasmacytoid dendritic cells was identified. Molecular approaches using either normal or leukemic plasmacytoid dendritic cells provide some new insights into the controversial lymphoid origin of those cells. The need for specific markers is still a critical aspect for the identification of plasmacytoid dendritic cells, whatever stage of differentiation, in normal as well as in pathological conditions. Hopefully, novel markers will allow delineation of the relationships between dendritic cells at different stages of differentiation/maturation along the myeloid and lymphoid lineages.     

Early ovarian ageing: are women with polycystic ovaries protected?

Screening asymptomatic women in the general population for 'early ovarian ageing' will be more effective in high-risk groups. Recent findings support the hypothesis that women with polycystic ovaries (PCO) may have actually been born with a larger pool of resting follicles. The mechanism is almost certainly genetic and occurs in fetal life. If, as is widely accepted, the rate of depletion of the ovarian reserve depends primarily on the size of the remaining pool of small follicles, women with PCO will be unlikely to undergo an accelerated depletion of their follicle pool, normally seen in the late thirties, significantly earlier. In terms of asymptomatic screening for early ovarian ageing in the general population, women with PCO constitute a low-risk group and should therefore be excluded.     

天然免疫与获得性免疫的进化关系

免疫有天然免疫和获得性免疫两种类型,它们有不同的机制和起源.天然免疫可识别某些"非己”细胞或分子并加以清除;获得性免疫则对分子抗原表位进行识别,按抗原提呈细胞等有无协同信号(发育阶段/类型)而有所区别.两者有不同的生物学起源与意义;天然免疫源于防御入侵者的需求,获得性免疫则源于系统及个体自身发育中调节细胞发育的需求.两者嫁接性混合进化形成了复杂的可识别"自己/非己”的免疫系统,并留下了神奇的机制.     

Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: A review

Although Angelman (AS) and Prader-Willi (PWS) syndromes are human genetic disorders with distinctly different developmental and neurobehavioural phenotypes, they both have abnormalities in inheritance of chromosome 15q11–q13. Whether AS or PWS arises depends on the parental origin of a deletion or uniparental disomy (the inheritance of 2 copies of a genetic locus from only one parent) for 15q11–q13. Normal development requires a genetic contribution for this genetic region from both a male and female parent. The dependence on parental origin implies that genes in human 15q11–q13 have distinct functions depending upon epigenetic, parent-of-origin differences, known as genomic imprinting. Here, I review the role of uniparental disomy and genomic imprinting in the pathogenesis of AS and PWS, and briefly discuss phenotype-genotype correlations using candidate genes and mouse models, in particular for hypopigmentation. © 1993 Wiley-Liss, Inc.