Results of 144 consecutive renal transplants from living-related donors.
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Biomedical subjects
Publications and source records attributed to R Bardi.
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BACKGROUND: Linear IgA bullous dermatosis (LABD) of childhood is one of the chronic, non-hereditary blistering diseases of childhood in which clinical, histologic and therapeutic findings are similar to those associated with bullous pemphigoid (BP) and dermatitis herpetiformis (DH). LABD, however, can be distinguished from BP of DH by direct immunofluorescence (IF) demonstration of linear IgA deposits along the basement membrane zone (BMZ). RESULTS: During the period 1984-1993, 12 children with LABD were studied. Their ages ranged from 2 years to 15 years with a mean of 8.5 years. There were 7 males and 5 females. All children had a generalized eruption consisting of large tense blisters arising on normal skin. The blisters were more profuse on the lower trunk, pelvic region and limbs. Face and scalp were also affected. Occasionally, annular blister formation producing a "rosette" or "cluster of jewels" was found. Pruritus was frequent. Histological features of BP and DH were seen. Direct IF showed linear deposits of IgA at the BMZ in all cases. IgM, IgG, and complement were also seen in 8 cases. Four patients showed IgA BMZ antibodies by indirect IF. There were no symptoms of malabsorption and 3 patients had a mild bowel lesions. HLA studies showed the B8DR3 antigen in 7 of the 10 patients studied. Nine patients were treated with dapsone associated in 3 patients with prednisone. Three patients were controlled on oxacillin. CONCLUSION: LABD of childhood is a definite clinical entity. It is the most frequent chronic, non hereditary bullous disease of childhood in Tunisia. It is characterized by a self limiting blistering eruption which resembles BP or DH histologically and has a characteristic linear deposits of IgA at the BMZ of the skin. The treatment consisted on dapsone therapy, but 3 patients in our study were well controlled on oxacillin.
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The polymorphism of C4A and C4B genes was investigated in Tunisian patients with insulin dependent diabetes (IDDM) and compared to family members (sibs) and to healthy controls. Multiplex families were analysed. A significant increase in C4AQO (26.86% vs 6.90%) and C4BQO (40.29% vs 8.28%) phenotypes was noted in IDDM patients compared with controls. Using RFLP analysis, we confirmed the high frequency of C4 null alleles. We also observed that most of these alleles were genes deleted in IDDM patients (72.23% vs 20% for CA4QO and 74.07% vs 16.70% for C4BQO). A significant decrease in the C4B long (14.92% vs 67.12%) form of the gene was also demonstrated by RFLP analysis compared with controls. Two haplotypes were frequently associated with IDDM patients in whom the C4A and C4B were deleted genes.
The frequency of HLA-DR antigens, as well as the prevalence of islet cell insulin autoantibodies and other autoimmunity disorders, were investigated in Tunisian patients with insulin-dependent diabetes mellitus (IDDM) and were compared with family members (sibs) and healthy control subjects. Cytoplasmic islet cell autoantibodies (ICA) were found in 79 of 175 (45.1%) patients with IDDM, in 23 of 126 (18.25%) unaffected first degree relatives of type I diabetes patients and in only two of 146 (1.3%) control subjects. In 79 ICA positive patients with IDDM, 46.8% presented other evidence of autoimmunity by testing for specific autoantibodies. Insulin autoantibodies were found in 86.9% of healthy ICA-positive sibs. A good correlation between HLA-DR3/DR4 heterozygous phenotypes and the presence of ICA in patients with IDDM and their unaffected sibs was observed in the Tunisian population. In fact, this heterozygous phenotype is found in 63.3% of ICA-positive diabetic patients and in 44.4% of ICA-positive unaffected sibs, whereas, HLA-DR3/DR4 antigens were noted in only 22.9% of ICA-negative diabetic patients and in no ICA-negative unaffected sibs. In these studies, we also summarized the distribution of HLA-DR antigens in patients with IDDM who presented autoimmune disorders other than ICA.
We report 4 cases of gelatin drop dystrophy corneal amyloidosis in two brothers and two sisters of the same family. The age of onset is between 1 and 10 years. The corneal signs are described at different stages of development. Lesions are initially asymmetrical. The typical is a subepithelial nodule starting in the center and then expanding to involve the whole cornea. There is no relationship between extension and outcome of the disease. Diagnostic is confirmed by histological examination. There was no consanguinity between parents and no other cases were found in the family. An immunological study with HLA typing was performed. All patients were treated with lamellar or transfixing keratoplasty with a follow-up of 2 to 5 years.
Twenty-five Tunisian families were analyzed for their complement alleles in order to detect duplications at the C4 loci. In this population, the most characteristic duplications are C4A2, B1.12 or C4A1, B1,12 always associated with BFS07 and C2C. This previously undescribed C4B1,12 duplication was found in seven families, five times in association with HLA-A2, B50.
Kidney transplantation is actually the best replacement therapy for the end stage renal failure. It sets free the hemodialysed patient from the hemodialysis restraint and contributes to solve the socio-economic problems risen by chronic hemodialysis. The authors report the results of this technic during the first 30 months of kidney transplantation in the "Hôpital Charles Nicolle" of Tunis. They describe the first steps which led to kidney transplantation, the therapeutic regimens, the medico-legal problems and the specific complications observed during this start period.
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There is no doubt that the autoimmune process in human disease depends on genetic factors. Varying associations were noticed between HLA DR and autoimmune disorders. The frequency of HLA-A-B and DR antigens as well as the Bf and C4 allotypes have been investigated in insulinodependant diabetes mellitus (IDDM) and compared to that of healthy controls in Tunisian population. An increase of A30, DR3, DR4, BfF1, C4AQ0 and C4BQ0 and decrease of B40, DR2, DR5 and DR6 were found in diabetes when compared to the value observation controls. The strongest association was noticed with HLA, DR3 and DR4. The prospective role of DR2 and DR5 antigens were also confirmed. Examination of HLA, Bf and C4 alleles. Two supratypes associated with IDDM have been observed among the Tunisian patients.
Two patients with non-systemic idiopathic glomerulonephritis were found to have a complete deficiency of C2, the second component of complement; the clinical course and serological abnormalities are reported in detail. An immunogenetic analysis of the patients of two families was carried out. It was demonstrated that the homozygous C2 deficiency was associated with homozygosity for HLA-A25-B18-DR2-BfS-C4A4-C4B2 haplotype.
The HLA-A, B and DR phenotypes of 109 unrelated Tunisian individuals have been determined. The HLA-A and B antigen frequencies were compared with data reported for European Caucasoids and various Arab populations. Most similarities in antigen frequencies were seen between Tunisians and Kabyles from North Africa. A high frequency of HLA-A23 and HLA-Bw50 was observed in Tunisians and all Arab populations. A very close similarity in HLA-DR antigen frequencies exists between Tunisians and European Caucasoids. Linkage disequilibria between alleles of HLA loci were examined; many instances of previously reported antigen associations were seen in Tunisians, together with a number of associations which have not been described elsewhere. Aw34B8 and A2DRw14 are suggested as being common haplotypes in Tunisians.
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The conformation of the peptide Boc-L-Met-Aib-L-Phe-OMe has been studied in the solid state and solution by X-ray diffraction and 1H n.m.r., respectively. The peptide differs only in the N-terminal protecting group from the biologically active chemotactic peptide analog formyl-L-Met-Aib-L-Phe-OMe. The molecules adopt a type-II beta-turn in the solid state with Met and Aib as the corner residues (phi Met = -51.8 degrees, psi Met = 139.5 degrees, phi Aib = 58.1 degrees, psi Aib = 37.0 degrees). A single, weak 4----1 intramolecular hydrogen bond is observed between the Boc CO and Phe NH groups (N---O 3.25 A, N-H---O 128.4 degrees). 1H n.m.r. studies, using solvent and temperature dependencies of NH chemical shifts and paramagnetic radical induced line broadening of NH resonances, suggest that the Phe NH is solvent shielded in CDCl3 and (CD3)2SO. Nuclear Overhauser effects observed between Met C alpha H and Aib NH protons provide evidence of the occurrence of Met-Aib type-II beta-turns in these solvents.
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