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Biomedical subjects

M Trucco

Publications and source records attributed to M Trucco.

At least 145 records · Page 8Linked to original sources
PubMed1993

A cold spot of IDDM incidence in Europe. Macedonia.

OBJECTIVE: To determine, for the first time, the incidence of IDDM among children 0-15 yr of age in Macedonia, the south republic of former Yugoslavia, and to compare these rates with those from neighboring countries. RESEARCH DESIGN AND METHODS: Children < 15 yr of age, with IDDM diagnosed between January 1985 and December 1991, were registered using the criteria established for the WHO Multinational Project for Childhood Diabetes. The primary source of case ascertainment consisted of clinical records from the University Pediatric Clinic in Skopje, the capital of Macedonia. The secondary source consisted of records for insulin supplies from the pharmacy in Skopje and from 15 local hospitals. RESULTS: During 1985-1991, 112 children < 15 yr of age were diagnosed with IDDM in Macedonia. The completeness of case ascertainment was 96.6%. The age-adjusted IDDM incidence rate was very low, only 2.45/100,000 per yr. No significant sex difference in incidence was observed. The highest incidence rate occurred in the 10- to 15-yr age-group. No temporal trends were observed. CONCLUSIONS: The incidence of IDDM in Macedonia is the lowest in Europe and among the lowest reported for Caucasian populations. However, the descriptive epidemiology is similar to that for high incidence populations. Further etiological studies are required to evaluate potential reasons for the very low incidence of IDDM in Macedonia.

Adolescent↗
PubMed1993

Non-radioisotopic typing of human leukocyte antigen class II genes on microplates.

We describe a new nonradioisotopic method for HLA class II molecular typing performed in 96-well plates of the same size as those used in enzyme-linked immunosorbent assays (ELISA) and radioimmunoassays (RIA). Biotinylated sequence-specific oligonucleotide (SSO) probes are bound to avidin-coated plates. Digoxigenin-labeled PCR-amplified DNA samples are hybridized, washed and detected with a peroxidase conjugated antibody assay. The method was tested by performing a partial HLA DQA1 and DQB1 typing on 69 randomly selected blood samples. The results are completely concordant with a traditional SSO-PCR typing performed on the same samples. This procedure is simple, fast and could be adapted for performance in semi-automated or automated fashion using equipment already available for ELISA and RIA assays.

Avidin↗
PubMed1993

Lyophilization as a method to store samples of whole blood.

We have investigated the feasibility of using lyophilization as a method of preserving whole blood samples for HLA class II molecular typing. Genomic DNA extracted from lyophilized blood appears similar in size to that extracted from fresh or frozen blood and is suitable for both PCR amplification and Southern blot analysis.

Blood Preservation↗
PubMed1992

The T-cell receptor V beta gene usage in tumor-infiltrating lymphocytes and blood of patients with hepatocellular carcinoma.

To determine a possibly restricted T-cell receptor (TCR) repertoire in tumor-infiltrating lymphocytes (TIL) in response to tumor-associated antigens in patients with hepatocellular carcinoma (HCC), freshly isolated TIL (n = 5) and peripheral blood lymphocytes (PBL; n = 6; 3 paired with TIL) were studied for expression of TCR variable (V) beta regions. RNA purified from TIL or PBL was reverse-transcribed into complementary DNA. This complementary DNA was amplified by quantitative polymerase chain reaction with 22 primers specific for 20 TCR V beta gene families and a 3' constant (C) beta primer. As a reference for later quantitation, a fragment of TCR C alpha was coamplified with each V beta region. Using 32P-labeled 3' primers, the percentage of total V beta expression was calculated by measuring the cpm of each of the amplified products. In contrast to PBL of 6 control, healthy individuals, whose range of expression of each TCR V beta gene varied from 0 to 13%, the expression of some V beta genes in HCC TIL was as high as 33%, indicating a restricted TCR V beta usage in HCC TIL. When polymerase chain reaction-amplified complementary DNAs of the V beta 1 or V beta 3 genes obtained from two TIL preparations were cloned and sequenced, the same rearrangements were found in the majority of DNA clones. The particular V beta genes that were over- or underrepresented in TIL varied among the patients. In 3 of 6 PBL and 3 of 5 TIL, the V beta 3 gene was expressed with a relatively high frequency. The V beta 4 gene expression was consistently low in patients' TIL or PBL. In 3 paired PBL and TIL, V beta expression was similar. In 5 of 6 cases, HCC PBL had different TCR V beta frequencies from those seen in normal PBL. This analysis of TCR V beta usage in freshly isolated TIL and in PBL indicated that T-lymphocytes in patients with HCC might have restricted immunological reactivity and that V beta 3-restricted TIL might represent antitumor effector cells.

Amino Acid Sequence↗
PubMed1992

Systemic chimerism in human female recipients of male livers.

We have previously reported data from clinical and laboratory animal observations which suggest that organ tolerance after transplantation depends on a state of balanced lymphodendritic cell chimerism between the host and donor graft. We have sought further evidence to support this hypothesis by investigating HLA-mismatched liver allograft recipients. 9 of 9 female recipients of livers from male donors had chimerism in their allografts and extrahepatic tissues, according to in-situ hybridisation and molecular techniques 10 to 19 years posttransplantation. In 8 women with good graft function, evidence of the Y chromosome was found in the blood (6/8), skin (8/8), and lymph nodes (7/8). A ninth patient whose transplant failed after 12 years from recurrent chronic viral hepatitis had chimerism in her lymph nodes, skin, jejunum, and aorta at the time of retransplantation. Although cell migration is thought to take place after all types of transplantation, the large population of migratory cells in, and the extent of their seeding from, hepatic grafts may explain the privileged tolerogenicity of the liver compared with other organs.

ABO Blood-Group System↗
PubMed1992

Genomic structure and strain-specific expression of the natural killer cell receptor NKR-P1.

NK cells are able to lyse a variety of virally infected and neoplastic cells in an MHC-unrestricted manner. The cell-surface protein NKR-P1 is thought to play a key role in this process. NKR-P1, initially identified in rat IL-2 activated NK cells, is encoded in the mouse by at least three similar, but not identical, genes. We previously reported the isolation and characterization of three different NKR-P1 cDNA, termed cDNA 2, 34, and 40, from IL-2 activated mouse NK cells. This report describes the structure of the gene encoding NKR-P1 cDNA 2, the smallest of these three cDNA. Gene 2 is composed of six exons spanning approximately 14 kb of genomic DNA. The first exon encodes the N-terminal intracellular domain, and exons 4, 5, and 6 contain the sequences coding for the CRD. This organization is similar to that of other genes that encode C-type animal lectins. The expression of the NKR-P1 genes in A-LAK cells from 13 mouse strains was examined by Northern blot analysis. NKR-P1 expression appears to coincide with that of the NK1.1 Ag. This observation further supports the hypothesis that the NK1.1 Ag is encoded by one of the NKR-P1 genes. Nucleotide sequence analysis of the promoter region of the three NKR-P1 genes in BALB/c and C57BL/6 mice suggests that differences in the level of expression probably do not result from alterations in the upstream regions of these genes, but may be caused by the expression of strain-specific transacting factors.

Animals↗
PubMed1992

Autoimmunity and genetics contribute to the risk of insulin-dependent diabetes mellitus in families: islet cell antibodies and HLA DQ heterodimers.

The risk for insulin-dependent diabetes mellitus (IDDM) associated with genetic susceptibility markers at the human leukocyte antigen (HLA) DQA1 and DQB1 loci was evaluated among individuals with and those without islet cell antibodies. A total of 108 antibody-positive parents and siblings of IDDM patients from the Pittsburgh registry were identified among 1,592 who were screened. HLA-DQ molecular typing was performed on 79 of these individuals and on 78 antibody-negative relatives. There were similar proportions of homozygotes for both of the diabetogenic alleles DQA1 arginine-52 (R/R) and DQB1 non-aspartate-57 (nD/nD) among the antibody-positive and antibody-negative relatives (19.0 and 15.4%, respectively). However, subsequent development of IDDM was restricted to individuals who were both antibody positive and carried the potential to make at least one diabetogenic DQ heterodimer. A dose-response effect was observed among the antibody-positive relatives, in which two of 18 capable of generating one diabetogenic heterodimer and six of 29 generating two heterodimers became insulin requiring. Nine of 15 who were homozygous for both R/R and nD/nD, coding exclusively for diabetogenic variants, became diabetic over the course of the follow-up. With a multivariate model, the relative risk for IDDM among those with islet cell antibodies who were also R/R and nD/nD was estimated to be 229.3 compared with those lacking both, after age and sex were controlled for. The data suggest that while autoimmunity, indicated by the presence of cytoplasmic islet cell antibodies may be relatively common, it progresses only in those with variant HLA-DQ molecules.

Adolescent↗
PubMed1992

Diabetic ketoacidosis in cystic fibrosis.

OBJECTIVE: To differentiate the insulin-dependent glucose intolerance associated with cystic fibrosis from type I diabetes mellitus in patients with cystic fibrosis. DESIGN: Patient report. SETTING: Tertiary care referral center. PARTICIPANT: An 11-year-old boy with cystic fibrosis who developed diabetic ketoacidosis. MEASUREMENT/MAIN RESULT: Biochemical, immunologic, and molecular techniques were used to support the sporadic association of type I diabetes mellitus in a patient with cystic fibrosis. Cystic fibrosis was confirmed by sweat test and further supported by the demonstration of a heterozygous deletion of the F508 locus. Evidence for the diagnosis of type I diabetes mellitus was developed from the clinical presentation of diabetic ketoacidosis with hyperglycemia, ketonemia, and ketonuria. Immunologic evidence included the demonstration of anti-insulin antibodies. The demonstration of homozygous absence of aspartic acid at position 57 of the HLA DQ-beta chain placed this child at high risk of type I diabetes mellitus. CONCLUSION: The clinical presentation and the presence of immunologic and genetic markers characteristic of type I diabetes mellitus supports the concordance of cystic fibrosis and type I diabetes mellitus in this patient.

Cystic Fibrosis↗
PubMed1992

Serum autoantibody to the nucleolar antigen PM-Scl. Clinical and immunogenetic associations.

OBJECTIVE: The inflammatory myopathies are characterized by distinctive autoantibodies that are associated with certain clinical features and immunogenetic patterns. Anti-PM-Scl is one such antibody and is found in pure myositis, myositis in overlap, and systemic sclerosis (SSc). Our purpose was to describe the clinical and immunogenetic associations of the anti-PM-Scl antibody. METHODS: Serum samples from 617 patients with various connective tissue diseases were screened for anti-PM-Scl antibody by indirect immunofluorescence and Ouchterlony double immunodiffusion. Patients with anti-PM-Scl were serologically typed for HLA-DR and DQ, and the genes encoding DQ alpha and DQ beta were characterized by hybridization of sequence-specific oligonucleotide to amplified genomic DNA. RESULTS: Twenty-three patients (4%) had serum anti-PM-Scl. Sixteen had either pure myositis or myositis in overlap, 6 had SSc alone, and 1 had SSc and rheumatoid arthritis. Twenty of the antibody-positive patients had serologic HLA typing performed; 15 (75%) were HLA-DR3 positive, and 17 (85%) expressed the DQw2 allele. None of the 5 DR3 negative patients shared a unique DR or DQ antigen with the DR3 positive patients, and further DNA analysis of 10 patients (4 of whom were DR3 negative) did not reveal any unique DQ alleles. CONCLUSION: Anti-PM-Scl identifies a subset of patients with myositis, SSc, or an overlap of the two disorders, and this antibody has a strong but not exclusive immunogenetic association with the HLA-DR3 antigen.

Adolescent↗