Immunoglobulins and complement components in synovial fluid of patients with acute rheumatic fever.
(17/477)
Three components of complement and six other serum proteins were assayed in synovial fluid and serum samples from 25 patients with acute rheumatic fever in Trinidad. The resulting data indicate a relative decrease in both early and late components of complement within the synovial fluids which suggests local activation by immune complexes. Such activation of complement within the joint spaces may play a primary role in development of the inflammatory arthritis of acute rheumatic fever. (+info)
Detection of gammopathy by serum protein electrophoresis for predicting and managing therapy of lymphoproliferative disorder in 911 recipients of liver transplants.
(18/477)
Monitoring of posttransplantation lymphoproliferative disorder (LPD) is usually based on imaging, which lacks sensitivity. A prospective study in 911 consecutive recipients of liver transplants was conducted to assess the value of gammopathy monitoring by serum protein electrophoresis (SPE) and to compare it with conventional follow-up methods. Patients systematically underwent SPE testing just before transplantation, at least twice during the first year after transplantation, and once a year thereafter. Patients with LPD underwent SPE testing every month. Immunofixation was done if abnormalities were detected by SPE. Gammopathy was observed in 114 patients, 18 of whom had onset of LPD. In 3 other patients, LPD developed, but no gammopathy was detected before onset of LPD or while LPD was present. Multivariate analyses showed gammopathy (relative risk [RR], 65.3), more than one transplantation (RR, 7.5), and viral cirrhosis (RR, 2.8) to be independent prognostic factors associated with occurrence of LPD. LPD was treated by reducing immunosuppression, with or without chemotherapy, administration of anti-CD20 monoclonal antibody, or surgery. The mortality rate was 24% (5 of 21 patients). Remission, which occurred in 13 patients, was associated with disappearance of gammopathy in 10 patients. In 5 patients, normalization of SPE results preceded the diagnosis of remission based on imaging, by a mean of 4 months. For diagnosis of LPD remission, the positive and negative predictive values of disappearance of gammopathy were 91% and 100%, respectively; and gammopathy monitoring was more sensitive than imaging (100% and 38%, respectively). Gammopathy monitoring is an inexpensive, noninvasive, sensitive way to detect LPD and assess the efficacy of treatment. It could be used routinely in follow-up of recipients of transplants. (+info)
A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If).
(19/477)
We describe a new congenital disorder of glycosylation, CDG-If. The patient has severe psychomotor retardation, seizures, failure to thrive, dry skin and scaling with erythroderma, and impaired vision. CDG-If is caused by a defect in the gene MPDU1, the human homologue of hamster Lec35, and is the first disorder to affect the use, rather than the biosynthesis, of donor substrates for lipid-linked oligosaccharides. This leads to the synthesis of incomplete and poorly transferred precursor oligosaccharides lacking both mannose and glucose residues. The patient has a homozygous point mutation (221T-->C, L74S) in a semiconserved amino acid of MPDU1. Chinese hamster ovary Lec35 cells lack a functional Lec35 gene and synthesize truncated lipid-linked oligosaccharides similar to the patient's. They lack glucose and mannose residues donated by Glc-P-Dol and Man-P-Dol. Transfection with the normal human MPDU1 allele nearly completely restores normal glycosylation, whereas transfection with the patient's MPDU1 allele only weakly restores normal glycosylation. This work provides a new clinical picture for another CDG that may involve synthesis of multiple types of glycoconjugates. (+info)
Heterozygosity of CDAN II (HEMPAS) gene may be detected by the analysis of erythrocyte membrane glycoconjugates from healthy carriers.
(20/477)
BACKGROUND AND OBJECTIVES: Congenital dyserythropoietic anemia (CDA) type I, II, and III, is associated with abnormalities of erythrocyte membrane glycoconjugates that are most pronounced in type II CDA or hereditary erythroblastic multinuclearity with a positive acidified-serum test (HEMPAS). The abnormalities consist in hypoglycosylation of polylactoaminoglycans linked to proteins (as in band 3 glycoprotein) and ceramides (known under the name of polyglycosylceramides) as well as in accumulation of some oligoglycosylceramides: lactotriaosylceramide, neolactotetraosylceramide, and sometimes globotetraosylceramide. Glycophorin A is partially unglycosylated with respect to O-linked glycans. Types I and II of the disease are inherited in an autosomal recessive fashion. The aim of the present study was to investigate a possibility that heterozygosity with respect to CDAN2 gene in healthy carriers could be detected by analysis of erythrocyte membrane glycoconjugates. DESIGN AND METHODS: We examined a family which consisted of heterozygous parents and their two sons, one of whom was afflicted with CDA II (proband) while the other was healthy. In all family members the glycosylation status of band 3 glycoprotein, polyglycosylceramides and glycophorin A was evaluated from their carbohydrate molar composition. In addition we determined erythrocyte membrane contents of oligo- and polyglycosylceramides, and agglutinability of erythrocytes by anti-i antibody. RESULTS: We found that the heterozygous parents showed, but about 50% less pronounced, most of the typical abnormalities of erythrocyte membrane glycoconjugates that were present in the proband. These abnormalities included: hypoglycosylation of band 3, accumulation and hypoglycosylation of polyglycosylceramides, and accumulation of lactotriaosylceramide. The level of neolactotetraosylceramide in the erythrocyte membranes of the parents was, however, normal. Globotetraosylceramide content was elevated in erythrocytes from the proband and, surprisingly, even more so in the parents. Glycophorin A in the proband was only slightly abnormal. Erythrocytes from both the parents and the proband expressed increased agglutinability with anti-i antibody. All glycoconjugates examined were normal in erythrocytes from the healthy son. INTERPRETATION AND CONCLUSIONS: Individuals heterozygous with respect to CDAN2 gene can be identified through determination of the carbohydrate molar composition of band 3 and polyglycosylceramides as well as by an elevated erythrocyte content of polyglycosylceramides. In the parents these abnormalities show dosage effects. Determination of the carbohydrate molar composition of glycophorin A and of oligoglycosylceramides seems to be less promising. These findings indicate that the analysis of erythrocyte membrane glycoconjugates may be a valuable addition to the repertoire of methods used in studies on the genetics of CDA. (+info)
Immunostaining of von Willebrand factor multimers on agarose gels and nitrocellulose filters.
(21/477)
Human von Willebrand factor (VWF) multimeric analysis is commonly performed by agarose gel electrophoresis, electroblotting, and immunoenzymatic staining; however, high molecular weight (HMW) multimers are poorly transferred on nitrocellulose and should be visualized by direct gel staining with radiolabeled anti-VWF antibody and autoradiography or luminography. (+info)
IgG-cryoglobulin consisting of both kappa and lambda light chains and beta 1C/1A.
(22/477)
A 72-year-old woman was diagnosed as multiple myeloma. Her plasma contained IgG-cryoglobulin consisting of both kappa and lambda light chains and beta 1C/1A. Such unique cryoglobulinemia has been reported in 2 cases in the literature, but never in Japan. (+info)
The progressive appearance of multiple urinary Bence-Jones proteins and serum paraproteins in a child with immune deficiency.
(23/477)
Multiple urinary Bence-Jones proteins and serum paraproteins were found in a child with type I dysgammaglobulinaemia (Seligmann et al., 1968). These showed a continually evolving pattern over a period of 4 months in relation to systemic infections and with no evidence of underlying malignancy. (+info)
Immunochemical studies in Wilson's disease.
(24/477)
The present study deals with a total of 28 cases of Wilson's disease, 50 normal individuals alongwith siblings and parents of eight cases. Male predominance (18 out of 28 cases), a median age of 11 years and universal presence of Kayser-Fleischer (K. F.) ring marked the cardinal features. Furthermore, 11 patients had hepatic-neural presentation while two had only the K. F. Ring without clinical abnormality. Single Radial Immunodiffusion (SRID) as the absolute quantitative procedure revealed a profound deficiency of ceruloplasmin with the levels ranging anywhere between 0.5 mg/dI to 23 mg/dI amongst the patients of Wilson's disease. The data from siblings and parents also revealed deficiency in 15 out of 23 serum samples when subjected to disc electrophoresis-benzidine screening procedure. (+info)