Phenotypic variation and detection of carrier status in the partial androgen insensitivity syndrome

The partial androgen insensitivity syndrome occurs in 46,XY subjects with phenotypes ranging from perineoscrotal hypospadias with cryptorchidism and micropenis (mild undervirilisation) to clitoromegaly and partial labial fusion (marked undervirilisation). Within an affected family, wide variation in the degree of genital ambiguity between individuals can be seen. Two cousins of a previously reported subject who had severe genital ambiguity and partial androgen insensitivity were investigated. Neither of the cousins had genital abnormalities as marked as the index case, who also had qualitatively abnormal androgen binding and two mutations of the androgen receptor gene. Despite marked phenotypic differences between the index case and his cousins, similar androgen binding and the same androgen receptor mutations were shown in the cousins. Furthermore, one of the androgen receptor gene mutations has been shown in the mother and sister of one of the boys indicating that they are carriers. Thus phenotypic variation in families affected by partial androgen insensitivity is dependent on factors other than abnormalities of the androgen receptor gene alone. Although carrier status in partial androgen insensitivity can be determined, the severity of genital abnormalities in an affected offspring cannot be reliably predicted.     

大鼠实验性急性胰腺炎时血浆和组织脂质过氧化物的变化

本文观察了大鼠实验性急性胰腺炎时血浆和组织脂质过氧化物(LPO)的动态变化。发病后10h动物血浆LPO即见升高,而血浆淀粉酶水平则开始下降。发病10、20h心、肝、肾、肺组织LPO也有不同程度的升高。这证实了氧自由基在急性胰腺炎病理过程中起一定作用。与用血清淀粉酶水平判断急性胰腺炎的发生、发展这一传统方法相比,血浆LPO更能反映急性胰腺炎后期病变的程度及此时全身器官组织受损的情况。     

双链断裂修复蛋白hKu70缺陷细胞株的建立及其生物学特性

目的 建立并鉴定DNA双链断裂(DSB)修复蛋白hKu70缺陷细胞株,并观察该缺陷细胞的某些生物学效应,用于AKu70基因功能及职业有害因素对DNA双链断裂修复影响的研究。方法 用构建的AKu70基因反义RNA绿色荧光蛋白真核表达载体(pEGFP—CI—K)转染人胚肺成纤维细胞(HLF),用蛋白兔疫印迹法鉴定转染细胞中AKu70基因的表达水平。同时观察转染细胞生长形态,绘制生长曲线,软琼脂培养法鉴定恶性程度。结果 pEGFP—CI—K载体在转染细胞内可较稳定表达,hKu70蛋白缺陷细胞株AKu70基因的蛋白表达水平下降了42％,转染后hKu70蛋白缺陷细胞生长形态、生长速度无明显变化,软琼脂培养未见细胞集落。结论 成功建立和鉴定了hKu70蛋白缺陷细胞株,该缺陷不足以单独引起可观察的某些生物学效应。     

Ex-vivo investigations on endoluminal laser therapy of varicosis – An optimization process

ObjectiveThis study was performed to compare the acute effects of different endoluminal heating procedures, by which obstruction of insufficient veins could be induced in an established standardized experimental ex-vivo model.MethodsThe model consists of the subcutaneous foot vein from recently slaughtered cows. Different energy sources (laser and radiofrequency), application devices and energy application parameters were compared in an iterative optimizing process. Following energy application the vein tissue was harvested and prepared for histology.ResultsBy means of the developed ex-vivo model reproducible conditions for the application of endoluminal thermal energy were enabled in each specimen. Radiofrequency-treated veins showed macroscopic shrinkage, contraction of vessels and induration of tissue. Histologically a circumferential and homogenous thickening of the vessel wall could be described. Dependent on the laser treatment protocol, in-situ dissection of the treated veins showed a broad spectrum of effects. These effects ranged from blood deposits in perivascular tissue and perivascular thermal lesions to transmural coagulated vein tissue inducing obstruction of the lumen.ConclusionThis standardized model is applicable to investigate acute effects of endoluminal treatment protocols. Changes in the protocol could be easily performed and investigated in order to develop optimized treatment protocols. These ex-vivo experiments indicate that endovenous laser treatment should be modified and needs treatment standardization to ensure a controlled homogenous circumferential thermal damage.     

The sensitivity and specificity of the immediate-spin crossmatch

The immediate-spin (IS) crossmatch is used to detect ABO incompatibility between donor red cells (RBCs) and the serum of the intended recipient. However, this test may be positive in the absence of ABO incompatibility (false positive) or it may be negative when ABO incompatibility exists (false negative). During a 25-month study, the rates of both false-positive and false-negative IS crossmatch results were evaluated, and the sensitivity and specificity of the IS crossmatch were determined. During the study period, 53,656 IS crossmatches were performed for patients without significant RBC antibodies. Fifty-five patients had positive IS crossmatches, and no false-negative reactions were found. In tests of 55 patients with positive IS crossmatches, 77 false-positive and 5 true-positive reactions were noted. The causes of the false-positive reactions were rouleaux (36 patients), cold-reactive antibodies (8 patients), a combination of rouleaux and cold-reactive antibodies (2 patients), fibrin clot (1 patient), and undetermined (3 patients). The sensitivity and specificity of the IS crossmatch were 100 and 99.86 percent, respectively. Laboratory personnel should be aware that the IS crossmatch may have false-positive or false-negative results, and they should develop written protocols to distinguish quickly between true-positive and false-positive reactions.     

When should antibody screening tests be done for recently transfused patients?

The American Association of Blood Banks (AABB) requires that blood samples used for pretransfusion testing of recently transfused (or pregnant) patients must be obtained within 3 days of scheduled transfusions. This requirement, which became effective in July 1988, amended Standard G2.000 of the AABB, which previously required that pretransfusion testing must be done on blood samples obtained within 2 days of scheduled transfusions. The present study was designed to estimate the risk associated with adopting the amended version of Standard G2.000. Sixty patients who developed significant unexpected alloantibodies after transfusion were studied retrospectively. Thirteen of the 60 patients were found to have newly detectable antibodies within 83 hours of a sample reported to be negative for the new antibody. Had the amended version of Standard G2.000 been in effect, the detection of some of these antibodies might have been delayed up to 24 hours. It was estimated that the implementation of the new AABB requirement at the authors' institution could potentially place about 1 in 3000 transfused patients at risk for an acute or delayed hemolytic transfusion reaction.     

Survey on pretransfusion testing

BACKGROUND: Hospitals and blood centers throughout the United States use a variety of reagents and methods to perform pretransfusion testing. A survey was developed to determine the reagents and methods in use and their relative prevalence in different work settings. STUDY DESIGN AND METHODS: A national survey on pretransfusion testing was conducted. Surveys were distributed to state and regional blood bank associations, which then distributed them to hospitals and blood centers within their region. In most instances, the blood centers distributed the survey to the local hospitals. Completed surveys were returned to the authors for review, and all information was entered into a database for analysis. RESULTS: Analysis of the data shows that the majority of blood banks use monoclonal reagents for ABO testing and monoclonal-polyclonal blended reagents for Rh testing. The data show that anti-IgG and polyclonal antihuman globulin reagents are used almost equally for antibody screening (detection) tests and that most blood banks use a three-cell antibody-screening test. Slightly more than 50 percent of hospitals use an immediate-spin crossmatch in the absence of unexpected antibodies. CONCLUSION: A number of approved reagents and methods are used by blood bank laboratories for pretransfusion testing. Facility size (number of beds) and type tend to influence the choice of methods and reagents employed. This survey provides an opportunity for blood bank laboratories to compare their current practices with those of their peers.