Biomedical subjects
S Marsal
Publications and source records attributed to S Marsal.
Clinical, radiographic and HLA associations as markers for different patterns of psoriatic arthritis.
OBJECTIVE: The aim of this study was to examine whether the five clinical forms of psoriatic arthritis (PsA) identified by Moll and Wright (Semin Arthritis Rheum 1973;3:55-78) could be clearly distinguished, especially as the disease evolved over time, to analyse whether radiographic features or HLA associations could define subsets with greater precision and to identify predictors of disease outcome. METHODS: Seventy-three patients (37 males and 36 females) were followed for a median time of 8 yr (range 1-16 yr). A standard clinical protocol was used to assess patients at each visit and two clinical scores. based on the joint areas involved, were defined to evaluate the mode of onset and the evolution of arthritis. X-ray films of the hands, feet and sacroiliac joints were taken and the patients were divided into two categories according to the presence or absence of erosions and an X-ray erosion score was also used. Three classification methods were used to define the different clinical subsets. HLA-A, B and DR antigens were tested by standard microlymphocytotoxicity assays. A multiple linear regression model was used in the statistical analysis. RESULTS: The five classical clinical subsets defined by Moll and Wright did not remain since distinct peripheral arthritis patterns tended to evolve over time. Only two discrete groups were identified, axial disease (AD) (sacroilitis with or without peripheral arthritis) in 29% of cases and peripheral disease (PD) without sacroilitis in 71%. AD was positively associated with the duration of arthritis (P < 0.04), presence of mutilation (P < 0.02) and the joint area score over disease evolution (JASE) (P < 0.02). There were erosions in 71% of the patients. Erosions correlated with the presence of mutilation (P < 0.007) and with the JASE (P < 0.0005). HLA-B27 was found in 43% of patients with AD, but only in 11% of PD patients (P < 0.01). No other clear HLA correlations were found. CONCLUSIONS: Despite the relatively small number of patients, this longitudinal study suggests that only two clinical subsets can be clearly defined in PsA, AD and PD; these are primarily determined on clinical grounds although HLA-B27 is strongly associated with AD. The evolution of PD pattern with time means that narrower peripheral arthritis subsets are of little clinical use.
Behçet's disease and pregnancy relationship study.
The effects of pregnancy on the course of Behçet's disease (BD), and vice versa, are unknown and little has been reported. We have studied three groups of women: (1) group A included 61 pregnancies in 23 women with BD, 25 pregnancies took place in 10 patients already diagnosed (group 1A) and 36 pregnancies occurred in 13 patients before disease diagnosis (group 2A); (2) group B included 30 females with 83 pregnancies affected by recurrent oral ulcers (ROU); (3) group C included 20 healthy women with 61 pregnancies. We investigated the effects of BD on pregnancy and fetal outcome, and the influence of gestation on the course of BD. A questionnaire was used in which specific information about each pregnancy, labour and puerperium was collected. We looked for medical confirmation in all cases where any pathology had been identified. No significant differences were found in the incidence of pregnancy complications between groups. The incidence of perinatal death was also similar and neither congenital abnormalities nor neonatal BD were observed. Only two patients observed a flare of the disease and in two cases the diagnosis of BD was made during the pregnancy. In our series, the outcome of pregnancy was generally good in BD patients, disease manifestations were not consistently worsened and fetal outcome was excellent. The first case of Budd-Chiari syndrome during the puerperium in a BD patient is reported.
[Synchronous colonic adenocarcinoma and hypernephroma].
Explore the source record for details and available documents.
[Budd-Chiari syndrome during puerperium in a patient with Behcet's disease].
Explore the source record for details and available documents.
Association of TAP2 polymorphism with rheumatoid arthritis is secondary to allelic association with HLA-DRB1.
OBJECTIVE: To study polymorphisms of the newly described TAP2 locus in rheumatoid arthritis (RA) and to analyze their relationship with HLA-DRB1 alleles previously implicated in the development of the disease. METHODS: TAP2 polymorphic residues at 3 sites, Val/Ile-379, Ala/Thr-565, and Ala/Thr-665, were characterized by amplification refractory mutation system polymerase chain reaction in 185 RA patients and 48 HLA-DR4 positive healthy controls. HLA-DR4 subtypes were determined by sequence-specific priming and oligonucleotide hybridization. RESULTS: The frequencies of Ile-379, Thr-565, and Thr-665 were significantly increased in DR4 positive versus DR4 negative RA patients. TAP2 genotype distributions also differed between the patient groups stratified by DR4 status. However, no significant differences in TAP2 polymorphisms were observed between DR4 positive RA patients and DR4 positive controls, although relationships between specific DR4 subtypes and TAP2 variants were identified. CONCLUSION: Particular TAP2 polymorphisms are associated with distinct HLA-DR specificities in both normal and RA populations. Thus, the prevalence of specific TAP2 residues and genotypes in RA appears to be secondary to the HLA-DR frequencies and genotypic combinations that are typical of RA.
Streptococcus bovis endocarditis presenting as acute spondylodiscitis.
Explore the source record for details and available documents.
[Polymorphism (RFLP-PstI) of the apoprotein A-I gene in a healthy population. Its relation to high-density lipoproteins].
BACKGROUND: Some RFLPs for the genes encoding for apoproteins have been associated with dyslipidemia and the predisposition to atherosclerosis. It is of interest to investigate the apo A-I gene in a Mediterranean population, since it is the major protein in HDL. METHODS: We studied the A-I C-III A-IV gene cluster RFLP defined by the endonuclease Pst I in 149 healthy males randomly selected among industrial workers in Tarragona. The mean age was 40 +/- 7 years (range 20 to 62). We analysed cholesterol and triglycerides in plasma and the lipoprotein fractions (VLDL, IDL, LDL and HDL) obtained by ultracentrifugation. The RFLP was determined for the enzyme Pst I in the A-I C-III A-IV gene cluster by the Southern blotting method. RESULTS: The genotype distribution was P1P1 81.9%, P1P2 14.8% and P2P2 3.4% and the allelic frequency was P1 89.3% and P2 10.7%. The plasma cholesterol, triglycerides, apo A-I and apo B did not show significant differences between these groups. The P2P2 subjects had lower HDL-C values (P1P1 1.17 +/- 0.39 mmol/l, P1P2 1.16 +/- 0.28 mmol/l y P2P2 0.89 +/- 0.14 mmol/l; p < 0.01). CONCLUSIONS: The distribution of the genotypes in the Mediterranean population were similar to that observed in the USA and in Europe. P2P2 subjects had decreased HDL cholesterol but the low prevalence of the genotype being very low limits its value as a marker of coronary artery disease risk.
Pigmented villonodular synovitis of the knee in a patient with Paget's disease of the adjacent femoral bone.
A 49-year-old male patient, diagnosed as having Paget's disease involving the lumbar vertebrae and both femora, felt persistent pain and swelling in the left knee after trauma. A synovectomy was performed. Clinical and histological findings led to the diagnosis of pigmented villonodular synovitis of the knee joint. Only one previous case of this association has been reported. A common aetiology for both diseases is discussed, and traumatic factors should be considered in the aetiology of the association.
Low density lipoprotein ligand-receptor interactions in normal healthy individuals characterized by their XbaI apolipoprotein B DNA polymorphism.
A DNA restriction fragment length polymorphism (RFLP), observed with the XbaI restriction enzyme digestion of peripheral lymphocyte genomic DNA and a 3.5 kb probe 3' end of the apolipoprotein B gene, was investigated in 228 normal healthy males. Lipoprotein measurements were conducted on fasting plasma and related to the genotype; the X2X2 homozygotes (the X2 allele contains the enzyme cutting site) had significantly higher plasma cholesterol, low density (LDL) cholesterol and LDL apolipoprotein B. Thirty subjects (10 from each of the X1X1, X1X2 and X2X2 groups) were recalled and the LDL receptor activity measurements, conducted on peripheral venous blood lymphocytes, indicated no significant differences between the genotypes. However, when LDLs isolated from these individuals were assayed for ligand-receptor interaction with a human embryonic lung fibroblast cell line, significantly different maximum binding (Bmax) values in the X2 allele-bearing individuals were observed. This paradoxically elevated in vitro binding and degradation of LDL from X2X2 subjects suggests that the elevated concentrations of LDL cholesterol observed with this genotype in vivo does not result from a defective ligand-receptor interaction directly related to this polymorphism.
[Polymorphisms of the Apo B gene in a healthy population and its association with hyperlipidemia].
The apoprotein B gene restriction fragment length polymorphism are studied using the endonuclease XbaI, and the pAB3.5C probe was studied in 128 healthy males aged 20-62 years (39.2 +/- 7.6). The genotypic prevalence was X1X1 26.6%; X1X2 47.7% and X2X2 25.7%. The allelic frequency was 50.3% X1 and 49.7 for X2. No differences in prevalence were observed related to age or body mass index. The genotype X2X2 was statistically associated with a 10% increase in total plasma cholesterol, LDL cholesterol and LDL Apo B levels (p less than 0.05). Up to 6% of the total plasma cholesterol levels were dependent on X2X2 genotype as shown by multivariate regression analysis. The X2X2 genotype may be a candidate marker in assessing increased risk for coronary heart disease.