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Biomedical subjects

C Geli

Publications and source records attributed to C Geli.

8 recordsLinked to original sources
PubMed2003

Is thiopurine methyltransferase genetic polymorphism a major factor for withdrawal of azathioprine in rheumatoid arthritis patients?

OBJECTIVE: To determine whether the presence of thiopurine methyltransferase (TPMT) alleles associated with reduced or absent activity of thiopurine methyltransferase is a major factor for withdrawal of azathioprine (AZA) in rheumatoid arthritis (RA) patients. METHODS: The TPMT genotype, including the variable number of tandem repeats (VNTR) pattern in the 5' untranslated region, was analysed in 111 patients with long-standing RA. Azathioprine (AZA) therapy was used in 40 patients (36%) as a disease-modifying anti-rheumatic drug. RESULTS: Seven out of 111 RA patients (6.3%) were carriers of a mutant allele, TPMT3A (G(460)-->A, A(719)-->G) being the mutant allele observed most frequently. In the group of 40 AZA-treated patients, therapy was discontinued in six patients because of side-effects and in 26 patients because of lack of efficacy. Three patients presented moderate side-effects and were homozygous for the wild-type TPMT allele, whereas the remaining three patients, who developed gastrointestinal effects with severe nausea and vomiting, were TPMT3A carriers. CONCLUSION: In this observational study, the absence of response, probably due to the low-dose scheme used, was the major cause of AZA withdrawal in our series of RA patients. TPMT genotyping may allow the use of high doses of AZA in patients with normal TPMT alleles to improve the efficacy of this immunosuppressive drug. Our data support the relationship between gastrointestinal intolerance and thiopurine metabolic imbalance.

5' Untranslated Regions↗
PubMed1998

Antibodies against a novel nucleolar and cytoplasmic antigen (p105-p42) present in the sera of patients with a subset of rheumatoid arthritis (RA) with signs of scleroderma.

We identified three patients (two of them relatives) with RA and signs of scleroderma whose sera contained a high titre of IgG class antibodies against the nucleoli and the nucleoplasm of cells of different mammalian origins. Sera from these patients uniformly immunoprecipitated four polypeptides, from a 35S-methionine-labelled HeLa cell extract, whose mol. wts were 120, 105, 95 and 42 kD. Of these, the 95-kD protein was highly phosphorylated. By immunoblotting, these sera reacted with 105-, 95- and 42-kD proteins and affinity-purified antibodies from these, demonstrating that 105- and 95-kD proteins shared cross-reactive epitopes. Moreover, affinity-purified antibodies from each of these proteins immunoprecipitated the whole complex. Localization studies using immunoelectron microscopy and in vivo actinomycin-D-treated cells demonstrated that the 105-, 95- and 42-kD proteins were present in the granular component of the nucleolus and the nucleoplasm. In addition, the 105- and 95-kD were present in free polyribosomes as well as ribosomes attached to endoplasmic reticulum. Pulse/chase experiments strongly suggested that the complex was accomplished shortly after a 10-min pulse. It was preferentially present in the nucleus after a 2 h chase and in both nucleus and cytoplasm after a 5 h chase. We conclude that a protein complex with a main nucleolar distribution is a new autoantigen (p105-p42) recognized by autoantibodies present in the serum of a subgroup of patients with RA and scleroderma signs. These antibodies could be useful as diagnostic markers and as tools for further studies involving the biology of the nucleolus.

Antibodies, Antinuclear↗
PubMed1997

Primary Sjögren's syndrome and associated lung disease: CT findings in 50 patients.

OBJECTIVE: We prospectively evaluated the high-resolution CT findings in 50 nonsmoking patients with proven primary Sjögren's syndrome. CONCLUSION: High-resolution CT is a sensitive technique in assessing pulmonary involvement in patients with primary Sjögren's syndrome. Interstitial lung disease and bronchiolar inflammatory changes are common abnormal findings seen on CT scans in primary Sjögren's syndrome.

Adult↗
PubMed1992

Erythroid abnormalities in rheumatoid arthritis: the role of erythropoietin.

Erythroid alterations were studied in 136 patients with rheumatoid arthritis (RA). Anemia was present in 75 cases. A definite diagnosis was determined in 65. The most frequent anemia was that of chronic disease (ACD) (43 cases); 14 patients with ACD presented with moderate to severe anemia. Prevalence of deficiencies were also high (15 cases had iron deficiency anemia, IDA). Serum erythropoietin levels were different in patients with RA compared with a healthy control group (p < 0.00001). Serum erythropoietin was increased in ACD (49 +/- 28.8 U/l) with respect to both RA (38.6 +/- 12.7 U/l, p = 0.0036) and controls (18.2 +/- 7.6 U/l, p < 0.00001). Although hemoglobin (Hb) was similar in ACD and IDA, serum erythropoietin in ACD was lower than in IDA (p = 0.01). There was a negative relationship between Hb and serum erythropoietin in ACD (r = -0.42, p = 0.005). In conclusion, almost 50% of patients with RA have anemia and ACD is the most frequent. As serum erythropoietin in ACD is blunted, patients with moderate to severe ACD are possible candidates for erythropoietin treatment.

Adult↗
PubMed1990

A prospective study of chronic or recurrent headache in systemic lupus erythematosus.

This study was conducted to analyze the prevalence and features of chronic or recurrent headache in Systemic Lupus Erythematosus (SLE), and also the relationship of such headache with other manifestations of the disease. A total of 76 patients (69 women and 7 men) with a mean age of 40 years (r: 24-74 years) were included. An overall severity index for SLE was applied. Fifty-two patients (68%) presented headache, 27 (52%) being vascular and 25 (48%) muscle contraction type. Headache in general was more frequent after the onset of SLE (p less than .001). Prevalence of muscle contraction headache in particular was greater following manifestations of SLE. Family history of migraine was recorded in 54% of the patients with vascular headache. This antecedent was more common in patients in whom migraine started before the onset of SLE (p = .05). A greater number of neuropsychiatric symptoms was observed in the patients with vascular headache and family history (p less than .02). Patients with thrombocytopenia presented headache less frequently (p less than .05). Our results showed headache, of both vascular and muscle contraction types, to be frequent in SLE. We note that there is an increased frequency of muscle contraction headache after the onset of SLE, and that there is a migraine-like headache directly related to SLE. Migrainous patients with familial history have a greater probability to suffer neuropsychiatric manifestations. Finally, it is suggested that severity of SLE is not related to presence of headache.

Adult↗
PubMedDate not supplied

Air trapping in primary Sjögren syndrome: correlation of expiratory CT with pulmonary function tests.

PURPOSE: The purpose of our study was to correlate the extent of air trapping on expiratory CT scans with results of pulmonary function tests (PFTs) in a large group of patients with primary Sjögren syndrome and to determine whether these techniques may be complementary in assessing small airways obstruction. METHOD: Thirty-four nonsmoking patients with proven primary Sjögren syndrome and 10 healthy nonsmokers underwent paired inspiratory-expiratory thin section CT and PFTs. Expiratory scans were scored for the presence and extent of areas of air trapping. Extent of air trapping was assessed visually and given a score. The functional significance of the extent of air trapping was evaluated in both groups and then correlated with the results of PFTs. RESULTS: Bronchiolar abnormalities were seen in 11 (32%) of 34 patients with primary Sjögren syndrome. On the expiratory CT scans, a mosaic pattern of lung attenuation was identified in 17 patients. Air trapping was found in 44 of 204 lobar observations on the expiratory scans. The median point scale score at end-expiration was 3.6 (20%, Grade 1), ranging from 1 (5.5%, Grade 1) to 9 (50%, Grade 2). The mean total score of air trapping was more prevalent in lower (46/68) lobes (22.4%) than in upper (22/136) lobes (5.3%) (p < 0.001). PFTs were normal in the primary Sjögren syndrome patients as well as the healthy subjects. Air trapping was found more frequently in patients with primary Sjögren syndrome than in the healthy group. Only during exhalation was there evidence of minimal lobular-sized areas or air trapping (Grade 1) in three of the healthy subjects. We did not find any correlation between air trapping and PFTs including the forced expiratory flow rate between 25 and 75% of the forced vital capacity (FEF25-75). CONCLUSION: Expiratory high resolution CT revealed the extent of bronchiolar disease in patients with primary Sjögren syndrome. We also found that the extent of air trapping did not correlate with PFTs, which suggests the existence of a subclinical bronchiolar inflammatory process that may precede detectable abnormalities in lung function tests.

Adult↗