Position statement of the Brazilian society of Rheumatology on mesna use as a preventive therapy for bladder disease in patients with systemic autoimmune diseases and systemic vasculitis under cyclophosphamide treatment.

Objective: To review current literature to support the use of mesna as a preventive therapy for hemorrhagic cystitis and bladder cancer in patients with systemic autoimmune diseases and systemic vasculitis treated with cyclophosphamide.

Materials And Methods: The search for articles was conducted systematically through MEDLINE, LILACS, Cochrane Library, and Embase databases. Only articles in English were selected.

Ricinus communis treatment of denture stomatitis in institutionalised elderly.

This study compared the effectiveness of Ricinus communis (RC) with Nystatin (NYS) and Miconazole (MIC) in the treatment of institutionalised elderly with denture stomatitis (DS). They (n = 30) were randomly distributed into three groups: MIC, NYS or RC. Clinical and mycological evaluations were performed prior to the use of the antifungal (baseline) and repeated after 15 and 30 days of treatment.

Prevalence and reasons for tooth loss in a sample from a dental clinic in Brazil.

Purpose. To evaluate the prevalence and reasons for teeth extractions in a sample from a dental clinic in Brazil. Methods.

[Prevalence of thyroid autoimmune disease in patients with systemic lupus erythematosus].

Introduction: Thyroid autoimmune diseases have been associated with a variety of rheumatologic diseases, including systemic lupus erythematosus (SLE).

Objective: To estimate the prevalence of thyroid autoimmune diseases in patients with SLE.

Methods: Transversal study to compare the prevalence of thyroid disorders in 106 patients with SLE and a control group of 102 patients.

Changes in bone mineral density over 18 months following kidney transplantation: the respective roles of prednisone and parathyroid hormone.

Background: Prednisone is a major factor of bone loss after kidney transplantation. The role of hyperparathyroidism and immunosuppressors is less clear.

Methods: Thirty-three patients (14 men, 19 women) with ESRD were followed prospectively for 18 months after kidney transplantation.

Effect of disodium monofluorophosphate, calcium and vitamin D supplementation on bone mineral density in patients chronically treated with glucocorticosteroids: a prospective, randomized, double-blind study.

To study the effect of fluoride on bone mineral density (BMD) in patients treated chronically with glucocorticosteroids, 15 subjects (renal grafted, n = 12; skin disease, n = 1; broncho pulmonary disorder, n = 1; Crohn's disease, n = 1) were prospectively studied in a double-blinded manner and randomly allocated either to group 1 (n = 8) receiving 13.2 mg/day fluoride given as disodium monofluorophosphate (MFP) supplemented with calcium (1,000 mg/day) and 25-hydroxyvitamin D (calcifediol) (50 micrograms/day), or to group 2 (n = 7) receiving Cas+ calcifediol alone. An additional group of 14 renal transplant patients treated chronically with glucocorticosteroids but exempt of specific therapeutic intervention for bone disease was set up as historical controls.

Body composition and fuel metabolism after kidney grafting.

Kidney transplant patients display decreased muscle mass and increased fat mass. Whether this altered body composition is due to glucocorticoid induced altered fuel metabolism is unclear. To answer this question, 16 kidney transplant patients were examined immediately after kidney transplantation (12 +/- 4 days, mean +/- SEM) and then during months 2, 5, 11 and 16, respectively, by whole body dual energy X-ray absorptiometry (Hologic QDR 1000W) and indirect calorimetry.

Infection-induced stone formation in a renal allograft.

Stone formation is an uncommon complication in renal allograft recipients. We report a 61-year-old woman who had undergone cadaveric renal transplantation in 1982 because of chronic renal failure due to polycystic kidney disease. Since 1985 she has developed recurrent urinary tract infections with Proteus mirabilis, and persistent microhematuria was detectable from 1988 on.

Altered body composition and fuel metabolism in stable kidney transplant patients on immuno-suppressive monotherapy with cyclosporine A.

Glucocorticoid associated altered body fat distribution and muscle wasting are well known following kidney grafting. Whether an immunosuppressive regimen after glucocorticoid withdrawal (i.e.

Changes in bone mass early after kidney transplantation.

Renal transplant patients exhibit increased rates of trabecular bone fractures, probably due to glucocorticoid-induced osteopenia, which is known to occur within 6 months after kidney grafting. This mineral loss at a mostly trabecular site (lumbar spine) contrasts with a gain at the radius, which consists mainly of cortical bone. However, the early effects of kidney transplantation on the other parts of the human skeleton and the time course of these changes during the first 5 months after transplantation remain unknown.

Impact of time-interval after transplantation and therapy with fibrates on serum cholesterol levels in renal transplant patients.

It is unclear to what extent different immunosuppressive regimens contribute to increased serum cholesterol levels observed in renal transplant patients after prolonged periods of immunosuppression (i.e. 3 and 5 years following kidney grafting).

Direct estimate of the haemophilia B (factor IX deficiency) mutation rate and of the ratio of the sex-specific mutation rates in Sweden.

Mutation rates for X-linked recessive diseases have so far been estimated indirectly by postulating an equilibrium between the loss of defective genes caused by the low reproductive fitness of affected males and the gain resulting from new mutations. Here, for the first time, we directly estimate both the overall and sex-specific mutation rates for haemophilia B by detecting the gene defect of the families registered at the Malmö Haemophilia Centre. These represent a complete sample of the Swedish haemophilia B population (45 out of 77 pedigrees) and contain 23 families with a single affected male.

Haplotype analysis of identical factor IX mutants using PCR.

We have detected the mutations in the factor IX genes from all of the haemophilia B patients registered at Malmö haemophilia centre and are currently examining the entire UK haemophilia B population. From these studies we have found 13 base substitutions which have recurred in 1-6 other, presumably unrelated, patients. In order to determine the minimum number of independent repeats of each mutation we have used PCR to examine the five factor IX polymorphisms forming the most informative combinations and we have characterised the haplotype of each patient.

Genetics and molecular biology of haemophilias A and B.

The development of rapid procedures for the characterization of mutations is advancing the knowledge of the molecular biology of the haemophilias and transforming the strategies for the diagnoses required for genetic counselling. In haemophilia B more than 300 mutants have been fully characterized. These comprise complete and partial deletions, rare insertions, and 'point' mutations.

Haemophilia B mutations in a complete Swedish population sample: a test of new strategy for the genetic counselling of diseases with high mutational heterogeneity.

Carrier and prenatal diagnosis based on the identification of the gene defect (direct diagnosis) increases the proportion of haemophilia B families that can be offered precise genetic counselling from the 50-60% attainable by DNA markers, to 100% and they also provide information on the molecular biology of the disease. We propose that in order to maximize the practical and scientific benefits of direct diagnosis the gene defect of complete (possibly national) populations of patients should be characterized and the information stored in appropriate confidential databases. We demonstrate the feasibility of such a strategy by characterizing the mutations of all the patients registered with the Malmö haemophilia centre.

Detection of three novel mutations in two haemophilia A patients by rapid screening of whole essential region of factor VIII gene.

In an attempt to replace the existing, DNA-based, 50% effective, carrier and prenatal diagnoses of haemophilia A with the 100% successful direct detection of defective genes, a new procedure was developed to screen and identify mutations in all the essential regions of the factor VIII gene (putative promoter, coding sequence, and the cleavage and polyadenylation region). Genomic DNA and cDNA obtained by reverse transcription of the "leaky" mRNA found in peripheral lymphocytes were amplified by means of the polymerase chain reaction to yield a set of eight segments comprising the essential gene sequences. The segments were then screened individually for mutations by the amplification mismatch detection method, which detects and locates any type of sequence discrepancy between the test DNA and the control probe by cleavage of the probe at the site of mismatches.

Two factor IX mutations in the family of an isolated haemophilia B patient: direct carrier diagnosis by amplification mismatch detection (AMD).

Rapid identification of gene defects allows definite carrier and prenatal diagnosis in virtually every family with haemophilia B. We report a study of the family of an isolated patient. Analysis of all the essential regions of the patient's factor IX gene (promoter, exons, transcript processing signals) revealed two mutations: one C----T transition at residue 17762 and another at residue 30890.

The incidence and distribution of CpG----TpG transitions in the coagulation factor IX gene. A fresh look at CpG mutational hotspots.

The mutations of 76 haemophilia B patients representing the whole population registered with the Malmö haemophilia centre (42) and referrals from the UK, were characterised. RFLP haplotype analysis of the defective genes indicated that 51 single base pair substitutions were definitely of independent origin and 27 of these were CpG----TpG or CpA transitions. This represents a 38-fold excess over other single-base changes.

Detection of novel genetic markers by mismatch analysis.

Chemical mismatch detection has been used to identify previously unknown genomic sequence variations that represent a new source of markers for genetic analysis. The approach detects all types of sequence changes, and therefore overcomes the limitation of restriction analysis, which identifies only a small fraction of the available sequence variations. Three new markers identified at the 3' end of the human dystrophin gene result from variable numbers of exact tandem repeats of 4bp (two examples) or 5bp (one example).

Direct detection of point mutations by mismatch analysis: application to haemophilia B.

Rapid detection of point mutations in genomic DNA has been achieved by chemical mismatch analysis of heteroduplexes formed between amplified wild-type and target sequences in the human factor IX gene. Amplification and mismatch detection (AMD) analysis of DNA from relatives of haemophilia B patients permitted carrier diagnosis by direct identification of the presence or absence of the mutation in all cases, thus eliminating the need for the informative segregation of polymorphic markers. This extends diagnostic capability to virtually all haemophilia B families.