Successful treatment of acute inferior vena cava and unilateral renal vein thrombosis by local infusion of recombinant tissue plasminogen activator

Renal vein thrombosis can occur as a complication of nephrotic syndrome. We present the case of a young man with nephrotic syndrome caused by minimal change disease who developed acute inferior vena cava and left renal vein thrombosis. He was treated initially with intravenous heparin. Because of the persistence of severe left flank pain and gross hematuria, local infusion of recombinant tissue plasminogen activator was tried, with resolution of thrombi and subsidence of symptoms. Functional preservation of the involved kidney is good, as indicated by Tc-99m DMSA scan (involved kidney, 47.4%; uninvolved kidney, 52.6%). Anticoagulation is usually recommended as the treatment of choice in renal vein thrombosis. We believe that in cases with critical presentations, such as bilateral involvement, extension into inferior vena cava, acute renal failure, pulmonary embolism or severe flank pain, thrombolytic therapy should be considered as a second-line treatment if good response is not obtained with heparin.     

Relationship of a leukemia-associated antigen to the presence of lymphoblasts in the peripheral blood in children with acute lymphocytic leukemia

Peripheral blood samples from 57 children with newly diagnosed E- rosette-negative, surface-immunoglobulin negative acute lymphocytic leukemia (ALL) were studied for the presence of a leukemia-associated antigen (ALLA). Ficoll-Hypaque separated cells were tested using a rabbit antiserum to human null lymphoblasts and an indirect immunofluorescent assay. The percentage of ALLA-positive cells were compared to the percentage of lymphoblasts determined by differential counts of a Wright-Giemsa-stained smear of a concurrently obtained peripheral blood sample. The mean ratio of percentage of lymphoblasts to percentage of ALLA-positive cells was 0.90. However, in 13 patients, the ratio of percent of ALLA-positive cells to percent of lymphoblasts was equal to or greater than 2:1. In the blood of 6 additional children (5 newly diagnosed, 1 relapsed patient) in whom no morphologically identifiable lymphoblasts were detected. ALLA-positive cells were present (7%-49%). These results indicate that testing for ALLA-positive cells in a sensitive technique for detection of leukemic cells in children with ALLA-positive ALL.     

Gamete donors’ reasons for,and expectations and experiences of,registration with a voluntary donor linking register

This paper reports on a study of the views and experiences of 21 sperm donors and five egg donors registered with UK DonorLink (UKDL), a voluntary DNA-based contact register established to facilitate contact between adults who wish to identify and locate others to whom they are genetically related following donor conception. Specifically, the paper examines donors’ reasons for searching for, or making information about themselves available to donor-conceived offspring. Their expectations of registration with UKDL, experiences of being registered and finally, the experiences of those who had contacted donor-conceived offspring and other genetic relatives are investigated. While most respondents reported largely positive experiences of registration, the study found significant issues relating to concerns about donation, DNA testing, possible linking with offspring and expectations of any relationship that might be established with offspring that have implications for support, mediation and counselling. Research that puts the experiences, perceptions and interests of gamete donors as the central focus of study is a relatively recent phenomenon. This study contributes to this debate and highlights directions for future research in this area.     

The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian Diabetes Registry

Susceptibility to autoimmune insulin-dependent (type 1) diabetes mellitus is determined by a combination of environmental and genetic factors, which include variation in MHC genes on chromosome 6p21 (IDDM1) and the insulin gene on chromosome 11p15 (IDDM2). However, linkage to IDDM1 and IDDM2 cannot explain the clustering of type 1 diabetes in families, and a role for other genes is inferred. In the present report we describe linkage and association of type 1 diabetes to the CTLA-4 gene (cytotoxic T lymphocyte associated-4) on chromosome 2q33 (designated IDDM12). CTLA-4 is a strong candidate gene for T cell- mediated autoimmune disease because it encodes a T cell receptor that mediates T cell apoptosis and is a vital negative regulator of T cell activation. In addition, we provide supporting evidence that CTLA-4 is associated with susceptibility to Graves' disease, another organ- specific autoimmune disease.      

UK gamete donors' reflections on the removal of anonymity: implications for recruitment

BACKGROUND: In 2005, UK legislation was changed requiring any donor of gametes or embryos used in the treatment of others to agree to the disclosure of their identity to any offspring reaching the age of 18. METHODS AND RESULTS: This paper analyses responses of a survey of existing donors' views on the removal of donor anonymity that was undertaken by the Department of Health (UK) as part of its review that preceded changes to the law on donor anonymity. The survey provides an insight into what it is about the loss of anonymity that some donors find problematic, indicating that although some donors will be reluctant to donate under conditions of non-anonymity, others have concerns about the removal of anonymity that can be addressed. CONCLUSIONS: This paper identifies factors, in particular counselling, support and better information that could maintain gamete donor recruitment in the context of the UK's policy of non-anonymous and non-remunerated donation.     

Severe Marfan syndrome due to FBN1 exon deletions

Marfan syndrome is an autosomal dominant condition, with manifestations mainly in the skeletal, ocular, and cardiovascular systems. The disorder is caused by mutations in fibrillin-1 gene (FBN1). The majority of these are family-specific point mutations, with a small number being predicted to cause exon-skipping. To date, there have only been five reports of in-frame exon deletions in FBN1, with the largest of these spanning three exons. Mosaicism is rarely recorded and has only been reported in the unaffected, or mildly affected, parents of probands. Here, we report on the clinical histories of two children with exon deletions in FBN1. Both have severe Marfan syndrome with significant signs in infancy. One patient has a deletion of exon 33, which has not previously been reported. The other has the largest reported deletion, which spans 37 exons, and also represents the first reported case of mosaicism in a patient with Marfan syndrome.