The genetic origin of Rheumatoid Arthritis (RA) is largely unknown, The purpose of this investigation was to assess the potential genetically determined involvement of the immunoglobulin (Ig) heavy chain variable region (VH) locus in the pathogenesis of RA, We tested the hypothesis of whether there is a genetic linkage between a structural abnormality of the VH gene complex and autoantibody hyperproduction in RA, We used restriction endonuclease generated polymorphism with human VH gene-family-specific probes to examine genomic DNA from a RA family and from unrelated RA patients from both the Tunisian and the European populations, The use of DNA samples from these ethnic origins permitted a further evaluation of the polymorphism of the human VH locus, While we found that the polymorphism of the VH locus was lower in the Tunisian population, we could not detect a restriction site polymorphism pattern restricted to RA, Together, our results do not support the involvement of major abnormalities of the Ig VH locus as a primary source in the development of RA.
Kaposi's sarcoma (KS) is a rare malignancy that occurs with increased incidence in immunosuppressed individuals. KS is frequently described after renal transplantation (RT), where it may represent up to 5% of recipients with Jewish, Arabic, or Mediterranean ancestry. A 32-year-old Arab Mediterranean male underwent cadaveric RT in 1986. While his renal function remained stable, several purple-brown skin nodules appeared in 1990 on his trunk and extremities. Histologic findings were typical of KS. Clinical, endoscopic, and radiologic investigations were negative for visceral involvement. Repeated viral study was performed and the patient was negative for HIV and CMV, but was positive for HBsAg. The dosage of immunosuppressive drugs was reduced. No radiotherapy or chemotherapy was added. At the time of this writing, after a 5-year follow-up, the patient is doing well and is tumor free. This article highlights the multiple factors involved in the development KS, notably immunosuppressive drugs including cyclosporine, as well as ethnic factors.
Objective. The random peptide combinatorial phage library approach overcomes the problem of lack of structural information about the aetiological agent or the antigen responsible for a given disease. Here, we used such a strategy to gain insight into the aetiology of rheumatoid arthritis (RA). Methods. We analyzed the reactivity of serum antibodies from a family with various rheumatic manifestations against RA-immunoselected nanopeptides displayed on phage particles. Results and conclusion. We found that within the same family, there was a difference in antibody reactivity against the peptides tested. The IgG isotype of the peptide reactive antibodies indicated that the observed reactivities were not related to the presence of polyreactive IgM antibodies. Furthermore, it is unlikely that the observed reactivity was due to rheumatoid factors (RF), since two patients who were positive for the immunoselected Pep3 peptide (LSSREPQAR) were RF negative. We also found that the serum of one patient with polyarthralgias also reacted with the same peptide bound by the RA serum, which may suggest the implication of a common aetiological agent in the apparition of this antibody reactivity. Finally, we noted that one patient with Sjogren's syndrome had antibodies to the RA peptide, which may indicate a potential relationship between these two autoimmune diseases.
OBJECTIVES:Genetic predisposition is required for the expression of thyroid autoimmune disorder addition to the immune dysfunction and the environmental factors.METHODS:In order to evaluate the role of this genetic factor, we reported the results of immunological and hormonal investigations of 62 members (TD), belonging to a large Akr family, who are related to 40 patients with Graves' disease or Hashimoto's thyroiditis.RESULTS:The hormonal analyses showed that 19 subjects exhibited an infraclinical hypothyroidism, subdivided into 7 members with pathological rates of TSH evocative of thyroid insufficiency and 12 others with compensative thyroid insufficiency. Seventeen subjects of the Akr family who had solely antithyroid autoantibodies were considered as potential candidates to develop thyroid autoimmune diseases. The clinical follow-up, during two years, confirmed the diagnosis of Hashimoto's thyroiditis in 3 members among 19 subjects with infraclinical hypothyroidism (TD05, TD28 and TD54) and in only 1 member out of the 17 potential candidates (TD03).CONCLUSION:Our results showed that a serological study of hormones and/or autoantibodies directed against thyroid antigens, could allow the detection of predisposed subjects to develop a thyroid autoimmune pathology. The Akr family seems to be suitable for the study of the localization of susceptibility genes to TAID.
Renal needle biopsy is still irreplaceable in children. The objectives of this retrospective study were to specify the technical aspects and the main nephropathies encountered. 152 children under the age of 16 years (13 +/- 3), 79 boys and 73 girls, underwent renal biopsy. The biopsy was performed after radiographic detection in 71 cases, and under continuous ultrasound guidance in 81 cases. The comparative study of these 2 techniques revealed the superiority of continuous ultrasound guidance, allowing biopsy of an essentially cortical fragment, rich in glomeruli with a limited number of punctures. Histological examination showed a predominance of glomerular nephropathy with, especially, visually normal kidney and membranoproliferative glomerulonephritis. These data encourage us to perform ultrasound-guided RNB in children and to eradicate sites of infection, particularly involving the upper respiratory tract.
With recent advances in medicine, uremic patients are living longer with an improving quality of life. Several skin diseases have been reported in patients with chronic renal failure, and the opportunity has been offered to elucidate newer cutaneous abnormalities among patients undergoing long-term hemodialysis. Hyperpigmentation was the most prevalent cutaneous abnormality observed in these patients, but hypopigmentation remains an exceptional event. We report here a case of a maintenance hemodialysis patient with an acquired hair and skin fairness. Although the true mechanism involved in this entity remains obscure, it can be correlated with a disturbance of phenylalanine metabolism on the basis of the current knowledge.
Type I primary hyperoxaluria is a rare autosomal recessive metabolic disease caused by a deficiency of hepatic peroxisomal alanine:glyoxylate aminotransferase. It is characterized by the accumulation of calcium oxalate within numerous tissues, especially in the kidneys and bone marrow. We report on 2 such cases discovered in patients with end-stage renal failure. Uremic patients with primary oxalosis often present with severe anemia. Severe anemia was, in fact, noted-which appeared unresponsive to high doses of rHuEPO-and red cell transfusions were needed frequently. Other causes of resistance to rHuEPO were excluded: iron depletion, vitamin B12 or folate deficiency, aluminum overload, inflammatory process, malignancy, and infection. Bone marrow infiltration by oxalate crystals represents a major limiting factor of this disease in its response to rHuEPO.
To define, the prevalence and risk factors of hepatitis C virus (HCV) a prospective and multicentre study was performed in 235 patients undergoing haemodialysis, the anti-HCV antibodies were evaluated using an immuno-enzymatic method (wellcozyme anti-HCV). The following parameters were obtained for all patients: time on haemodialysis, blood transfusion, liver enzymes (ALT, AST), others virus markers: HBV (HBs Ag, HBs Ab, HBc Ab) and HIV. Anti-HCV was positive in 86 patients (42%). There was a significant (p < 0.05) relationship between presence of anti-HCV antibodies and duration of haemodialysis (33 +/- 24 vs 20 +/- 19 months). No statistically significant difference was found with blood transfusion and the others parameters. In conclusion, the prevalence of HCV in our center of dialysis was high. The duration of dialysis seems to be the main risk factor.
To define, the prevalence and risk, factors of hepatitis C virus (HCV) a prospective and multicentre study was performed in 235 patients undergoing haemodialysis, the anti-HCV antibodies a ere evaluated using an immuno-enzymatic method (wellcozyme anti-HCV), The following parameters were obtained for all patients : time on haemodialysis, blood transfusion, liver enzymes (ALT, AST), others virus markers: HBV (HBs Ag, HBs Ab, HBc Ab) and HIV, Anti-HCV was positive in 86 patients (42 %), There was a significant (p < 0.05) relationship between presence of anti-I-ICV antibodies and duration of haemodialysis (33 +/- 24 vs 20 +/- 19 months), No statistically significant difference was found with blood transfusion and the others parameters, In conclusion, the prevalence of HCV in our centre of dialysis was high, The duration of dialysis seems to be the main risk factor HCV infection.