Search PubMed⌕ Search

Biomedical subjects

F Franceschini

Publications and source records attributed to F Franceschini.

At least 19 recordsLinked to original sources
PubMed2005

Anti-Ro/SSA and La/SSB antibodies.

The Ro/La system is considered as an heterogeneous antigenic complex, constituted by three different proteins (52 kDa Ro, 60 kDa Ro and La) and four small RNAs particles. Anti-Ro/SSA are the most prevalent specificity among many autoimmune diseases, such as systemic lupus erythematosus (SLE), SS/SLE overlap syndrome, subacute cutaneous LE (SCLE), neonatal lupus and primary biliary cirrhosis. In contrast, anti-La/SSB is more associated with Sjögren's syndrome (SS). The differences between 52 kDa, 60 kDa Ro and La could explain why different assays did not show equivalent performance in anti-Ro and anti-La autoantibodies detection. The RNA precipitation assay had the highest sensitivity and specificity, usually considered as the reference methods. CIE is considered the most reliable to detect anti-Ro/SSA antibodies in routine practice, performing better than immunoblotting (IB) and some ELISAs. It shows a high sensitivity (89%) and specificity (100%). ELISA is generally considered a safe, rapid, sensitive and specific tecnique. Therefore, its high sensitivity often corresponds to a very low clinical specificity and the assay can give false positive results. Therefore, it is very important to search anti-Ro and anti-La only in selected patients, using the assay with high specificity and good predictive value, in order to have clinically significant and true positive results.

Algorithms↗
PubMed2005

Clinical and serological features of 35 patients with anti-Ki autoantibodies.

The objective of this study was to analyse clinical and serological associations of anti-Ki antibodies. Thirty-five patients with anti-Ki antibodies, detected by CIE, selected from laboratory routine, were studied. All patients were affected by autoimmune diseases: SLE and pSS were the most frequent diagnoses. The cohort was constituted by 27 female and eight males. Main clinical features were skin involvement (60%), xerophtalmia (48.6%), Raynaud's phenomenon (43%), photosensitivity (34%), xerostomia (31.4%). CNS involvement was present in four (11.4%) and renal disease in seven cases (20%). ANA, anti-dsDNA and RF were detected in 100%, 60% and 34.5%. In SLE, anti-Ki was detected in 6% of cases, more frequently in males compared to other SLE patients without anti-Ki (P < 0.004). Nineteen anti-Ki positive patients affected by SLE showed more frequently malar rash and multiple autoantibody specificities compared to 16 anti-Ki positive patients with other diseases (P = 0.044 and P = 0.0003, respectively). Our study confirms a preferential occurrence of anti-Ki antibodies in patients with sicca and skin involvement. Malar rash and multiple ANA specificities were significantly associated with SLE compared to other diseases in our study. Anti-Ki were detected in 6% of patients with SLE with a significant prevalence in males.

Adult↗
PubMed2005

[Anti-TNFalpha treatment in patients with rheumatoid arthritis and anti-Ro/SSA antibodies].

OBJECTIVE: To analyse clinical efficacy, onset of new autoantibodies or symptoms of autoimmune disease in patients affected by rheumatoid arthritis with anti-Ro/SSA treated with anti-TNFalpha agents. METHODS: Six anti-Ro/SSA positive subjects with RA were studied every six months until 24th month of treatment in order to detect ANA titer (IFI), anti-dsDNA (Farr), anti-cardiolipin and anti-beta2glycoprotein I (ELISA), anti-ENA (CIE). The titre of anti-Ro/SSA were analysed by ELISA. Four patients were diagnosed as overlap RA/SS. RESULTS: Six female patients (mean age 58 ys, SD 9.8 ys), with long-standing RA (mean 7 ys, range 5-22 ys) were treated with anti-TNFalpha agents for a mean of 31 months (SD: 20.4 m): 4 with Infliximab and 2 with Etanercept. All the patients showed a significant reduction of DAS until 24th month (p < 0.006) with stability of sicca symptoms. The titer of ANA and anti-Ro/SSA was stable, while 4 subjects developed anti-dsDNA at low titer within 6-12 months. One patient withdrawn the treatment, because of lupus-like features; another one, with HCV hepatitis, interrupted Etanercept because of elevation of liver enzymes. No anticardiolipin or antibeta2GPI antibodies were detected. One subject with RA-SS also presented a primary biliary cirrhosis: clinical and histological features of cholangitis remained stable during Etanercept treatment. CONCLUSIONS: Anti-TNFalpha treatment showed good efficacy and safety in anti-Ro/SSA positive patients with RA. Anti-ds-DNA antibodies at low titer appeared in most patients while the onset of lupus-like disease could be considered a rare event also in RA patients with a rich autoimmune repertoire.

Aged↗
PubMed2004

Colorectal cancer screening programme by faecal occult blood test in Tuscany: first round results.

Screening with faecal occult blood test (FOBT) has been shown to be effective in reducing mortality from colorectal cancer. Tuscany was the first region in Italy in which a screening programme for colorectal cancer by FOBT was initiated region-wide. The aim of the paper was to describe organizational aspects, a quality control model and the results of this experience. From June 2000 to December 2001, 192583 subjects aged 50-70 were invited to undergo a 1-day immunochemical test without any dietary restriction. A total of 78505 subjects (41%) performed the screening test, of whom 4537 responders had a positive test result (5.8%). Among them, 1122 refused any form of assessment or underwent a colonoscopy outside the screening referral centres, with an overall assessment compliance of 75.3%. Malignancies were found in 193 patients and at least a high-risk adenomatous polyp in 692 patients. In about a quarter of the positive subjects who underwent assessment, cancer or high-risk adenoma was detected. In conclusion, data from this experience supported the feasibility of biennial colorectal screening programme by FOBT, particularly regarding invitation compliance and positivity rate. Further efforts are necessary to implement screening extension and to improve data collection.

Adenomatous Polyps↗
PubMed2003

Familial autoimmunity as a risk factor for systemic lupus erythematosus and vice versa: a case-control study.

The objective of this multicentric case-control study was to investigate if a history of autoimmune disease (AD) in first-degree relatives (FDR) is a risk factor for systemic lupus erythematosus (SLE) and to evaluate the risk of AD among FDR of SLE patients. Cases were Italian SLE patients consecutively enrolled. Controls were orthopaedic inpatients without any autoimmune diseases. The strength of the association between family history of AD and SLE was measured as an odds ratio (OR) calculated from the coefficient of an unconditional regression model. To calculate the risk of AD among FDR of SLE patients, the extended generalized estimating equation technique was used. In total, 154 SLE cases and 140 controls were enrolled. A family history of AD was reported by 22.7% of SLE patients and by 5.7% of the controls. The risk of SLE increased with the number of FDR with AD (one FDR affected, OR = 4.1; two or more, OR = 11.3). The probability of having AD was higher among FDR of SLE cases in comparison to FDR of controls (RR = 4.6; 95%CI 1.9-11.1). A female SLE patient conferred an increased risk of AD to her FDR; this risk is doubled in females (OR 10.3; 95% CI 3.1-34.4).

Adult↗
PubMed2002

Systemic sclerosis therapy with iloprost: a prospective observational study of 30 patients treated for a median of 3 years.

Iloprost is useful in the short-term treatment of severe Raynaud's phenomenon and ischaemic ulcers in patients with systemic sclerosis (SSc), but its long-term effects are largely unknown. The aim of this study was to report long-term outcome (median follow-up 36 months) in a prospective observational study of a cohort of 30 consecutive patients with SSc who received iloprost therapy with maintenance infusions every 3 weeks after an initial cycle of 5 consecutive days. At the end of the observation, compared to the pretreatment point, we observed complete healing of digital ulcers in 19/21 patients (90%), a decrease of the Raynaud's phenomenon visual analogue score from 10/10 (25th-75th percentile 7-10) to 5/10 (4-6.75) ( P <0.001) and, in patients with diffuse cutaneous involvement, of the modified Rodnan skin thickness score from 25.5 (16.5-31.5) to 16 (13.5-20) ( P = 0.02), minimal improvement of the Health Assessment Questionnaire from 0.87 (0.68-1.37) to 0.75 (0.62-1.25), which was neither statistically nor clinically significant. The forced vital capacity was not significantly changed, but the diffusion capacity corrected for the alveolar volume decreased from 71% (54-76.7) of the expected value to 62% (51.5-71) ( P = 0.02). In one patient with limited SSc a positive effect on pulmonary hypertension was observed. Six patients, after a median of 25 months of treatment and healing of digital ulcers, discontinued the therapy; after a median of 10 months ulcers did not recur in five of these six. Other reasons for discontinuation were: tolerability (1), disease progression (normotensive renal crisis: 1), and death due to intracranial haemorrhage (1). This same patient had previously suffered a central retinal vein thrombosis. In conclusion, long-term therapy with iloprost in patients with SSc has a durable effectiveness on ischaemic ulcers and Raynaud's phenomenon, but it is not possible to conclude that the natural history of the disease was modified.

Adult↗
PubMed2002

Clinical and serological associations of ribosomal P autoantibodies in systemic lupus erythematosus: prospective evaluation in a large cohort of Italian patients.

OBJECTIVE: To verify the association of ribosomal anti-P antibodies (anti-P), as detected by a sensitive ELISA, with serological findings and clinical manifestations, including neuropsychiatric involvement evaluated according to the American College of Rheumatology (ACR) nomenclature, in a large cohort of patients with systemic lupus erythematosus (SLE). METHODS: Anti-P were evaluated in the serum of 149 consecutive Italian SLE patients by an ELISA using a multiple antigen peptide carrying four copies of a common P0, P1 and P2 epitope. A complete laboratory evaluation and clinical examination were performed in each patient. In addition, all patients underwent an accurate neuropsychiatric and neuropsychological assessment performed by trained specialists according to the 1999 ACR suggestions. RESULTS: Serum anti-P were detected in 18/149 patients (12.1%). The anti-P prevalence was similar (11.7%) when the analysis was performed in a larger series of sera including 82 additional SLE patients, who were not included in the clinical study. The age of anti-P-positive patients at disease onset was less than 33 yr and, in comparison with the anti-P-negative patients, these patients showed more active disease activity and a higher prevalence of photosensitivity and malar and discoid rash. A strong association between IgG anticardiolipin antibodies and anti-P was also found. However, anti-P were associated with neither neuropsychiatric syndromes nor cognitive impairment. CONCLUSION: This study does not seem to confirm the described association of anti-P with SLE neuropsychiatric manifestations. However, it supports the anti-P association with different skin manifestations as well as the presence of anticardiolipin in a subset of patients with SLE characterized by early disease onset.

Adolescent↗
PubMed2002

Pregnancy outcome in 100 women with autoimmune diseases and anti-Ro/SSA antibodies: a prospective controlled study.

Anti-Ro/SSA antibodies are associated with neonatal lupus but are also considered a possible cause for unexplained pregnancy loss and adverse pregnancy outcome. In a large multicentres cohort study we have prospectively followed 100 anti-Ro/SSA positive women (53 systemic lupus erythematosus (SLE)) during their 122 pregnancies and 107 anti-Ro/SSA negative women (58 SLE) (140 pregnancies). Anti-Ro/SSA antibodies were tested by immunoblot and counterimunoelectrophoresis. Mean gestational age at delivery (38 vs 37.9 weeks), prevalence of pregnancy loss (9.9 vs 18.6%), preterm birth (21.3 vs 13.9%), cesarean sections (49.2 vs 53.4%), premature rupture of membranes (4.9 vs 8.1%), preeclampsia (6.6 vs 8%), intrauterine growth retardation (0 vs 2.3%)and newborns small for gestational age (11.5 vs 5.8%) were similar in anti-Ro/SSA positive and negative SLE mothers; findings were similar in non-SLE women. Two cases of congenital heart block were observed out of 100 anti-Ro/SSA positive women. In conclusion, anti-Ro/SSA antibodies are responsible for congenital heart block but do not affect other pregnancy outcomes, both in SLE and in non-SLE women. The general outcome of these pregnancies is now very good, ifprospectively followed by multidisciplinary teams with ample experience in this field.

Adult↗
PubMed2001

Risk of congenital complete heart block in newborns of mothers with anti-Ro/SSA antibodies detected by counterimmunoelectrophoresis: a prospective study of 100 women.

OBJECTIVE: To assess the true prevalence of congenital complete heart block (CCHB) in infants of anti-Ro/SSA-positive women known to have connective tissue disease (CTD) and, secondarily, to evaluate the prevalence of other electrocardiographic abnormalities in these newborns at birth. METHODS: A prospective study was conducted in 4 referral hospitals. One hundred anti-Ro/SSAA-positive mothers were followed up before they became pregnant and during the index pregnancy. Counterimmunoelectrophoresis and immunoblotting were used to test for antibodies to extractable nuclear antigens. RESULTS: Of the 100 women with anti-Ro/SSA antibodies, 2 had infants who developed CCHB in utero (2%). The CCHB was detected at 22 weeks and 20 weeks, respectively. One of the 2 mothers had primary Sjögren's syndrome (SS), and the other had undifferentiated CTD (UCTD). No case of CCHB occurred among the infants of 53 mothers with systemic lupus erythematosus (SLE). No fetal death occurred due to CCHB. In 2 centers, electrocardiography was recorded in 24 unselected newborns, and 4 were found to have sinus bradycardia. CONCLUSION: The prevalence of CCHB in newborns of prospectively followed up women already known to be anti-Ro/SSA positive and with known CTD was 2%. This finding is useful with regard to preconception counseling of these women. The risk of delivering an infant with CCHB may be higher in mothers with primary SS or UCTD than in those with SLE. Additional electrocardiographic abnormalities such as sinus bradycardia and prolongation of the QT interval may be present in their children.

Antibodies, Antinuclear↗
PubMed2001

Clinical and morphological features of kidney involvement in primary Sjögren's syndrome.

BACKGROUND: Primary Sjögren's syndrome is a connective tissue disorder affecting primarily the lacrimal and salivary glands, resulting in xerophtalmia and xerostomia. Extraglandular manifestations are frequent and may include renal involvement. METHODS: We studied the prevalence and nature of kidney involvement in 60 Italian patients with primary Sjögren's syndrome, diagnosed according to the European classification criteria. The following renal laboratory tests were performed in all patients: electrolytes in serum and in 24-h urine, creatinine in serum and in 24-h urine, venous pH and HCO(3)(-), urinalysis, urine culture, urinary osmolality and urine pH. A water deprivation test was performed in patients with morning urine osmolalities below the reference values adjusted for age. An oral ammonium chloride loading test was performed in patients with urine pH above 5.5 from morning samples. Renal biopsy was performed in patients with renal involvement. RESULTS: Sixteen patients (27%) had laboratory evidence of tubular and/or glomerular dysfunction. A variable degree of creatinine clearance reduction was found in eight patients (13%); frank distal tubular acidosis in three (5%); hypokalaemia in four (7%); and pathological proteinuria in 12 (20%). Urine concentrating capacity was defective in 10 out of 48 (21%) tested patients. Only four patients presented with overt clinical manifestations, including hypokalaemic tetraparesis (1), nephrotic syndrome (2), recurrent renal stones with flank pain and haematuria (1). In two patients, signs of renal involvement preceded the onset of sicca syndrome. Renal biopsies from nine patients showed tubulo-interstitial nephritis in six and glomerular disease in three. Patients with renal involvement had a significantly shorter disease duration compared with patients without renal abnormalities. CONCLUSIONS: Kidney involvement is a frequent extraglandular manifestation of primary Sjögren's syndrome. It is rarely overt and may precede the onset of subjective sicca syndrome.

Adult↗
PubMed1999

DNA typing of maternal HLA in congenital complete heart block: comparison with systemic lupus erythematosus and primary Sjögren's syndrome.

OBJECTIVE: To investigate which maternal HLA allele or haplotype is primarily associated with isolated congenital complete heart block (CCHB) in offspring. METHODS: HLA class II typings were assessed by line probe assay and polymerase chain reaction-sequence-specific oligonucleotide probe methods, and HLA class I by the microlymphocytotoxicity test, in 13 Italian anti-Ro-positive mothers of children with CCHB and 41 anti-Ro-positive mothers with healthy children (20 mothers with systemic lupus erythematosus [SLE] and 21 with Sjögren's syndrome [SS]). Anti-Ro antibodies were studied by immunoblot. RESULTS: HLA-DRB1*03011 and DRB1*03011; DQA1*0501;DQB1*0201 were more frequent in mothers of infants with CCHB than in mothers who had SLE, but not in mothers who had SS and whose children were healthy. Mothers of infants with CCHB were either HLA-B5/35, B17, or B44 positive and had a higher prevalence of B44;DRB11;DQA1*0501;DQB1*0301 and isolated anti-52-kd antibodies, which were absent in SS and SLE controls. CONCLUSION: Mothers of infants with CCHB presented a strong genetic similarity to mothers who had SS, except for HLA class I phenotype. HLA-DRB1*03011;DQA1*0501;DQB1*0201 seemed not to be primary CCHB-associated genes, but were involved in an SS-like anti-Ro/La response. The combined presence of HLA-DRB1*03011 and anti-52-kd SSA/Ro antibodies conveyed the highest risk of giving birth to an affected child.

Alleles↗
PubMed1999

Chilblain lupus erythematosus is associated with antibodies to SSA/Ro.

Chillblain Lupus Erythematosus (CL) of Hutchinson is a subtype of Lupus Erythematosus characterized by erythematous lesions symmetrically distributed on the face, nose, fingers and toes, knees and heels. The lesions are induced by cold, damp climates. A number of patients affected by CL eventually develop features of Systemic Lupus Erythematosus (SLE). We report here 7 patients, all but one affected by SLE, with chilblain cutaneous lesions on their hands, feet and face. The onset of CL preceded the diagnosis of SLE, from 1 to 10 years in 3 cases, it was concurrent in one case and was subsequent in the other 2 cases. Six out of the seven patients referred typical Raynaud's phenomenon and one had acrocyanosis. CL lesions developed and were aggravated by the cold during autumn and winter, they improved during summer. Skin biopsy performed in 5 patients from the lesions showed, on histology, a typical pattern of alterations with granular deposits at the dermo-epidermal junction on direct immunofluorescence. Laboratory findings showed: ANA and anti-SSA/Ro were detected in all the patients, anti-SSA/Ro were isolated in 4 patients and associated with anti-Sm in one case, anti-U1 RNP in one case and with anti-Sm and anti-RNP in a third case. Complement consumption was observed in 5 patients, anti-dsDNA in the six patients with SLE, hypergammaglobulinemia in 4 and rheumatoid factor in one. The fine specificity of anti-SSA/Ro as determined by immunoblotting using a human spleen extract as a substrate, showed: anti-60kD and anti-52 kD in two sera, anti-60kD isolated in 2 sera, anti-52kD isolated in one serum (from the patient without SLE) while 2 sera did not blotted. In conclusion, our study confirms the previous report of anti-SSA/Ro antibodies in association with CL. This clinical and serologic association widens the spectrum of cutaneous disease that is associated with antibodies to SSA/Ro to include conditions such as to SCLE, hypergammaglobulinemic purpura and neonatal lupus.

Adult↗
PubMed1999

Incidence of antiperinuclear factor in patients with psoriatic arthritis.

Antiperinuclear factor (APF) is considered a disease marker of rheumatoid arthritis (RA) and its diagnostic value is obvious in patients who are seronegative for rheumatoid factor (RF) activity. We have evaluated APF positivites in 76 patients with psoriatic arthritis, 38 uncomplicated psoriatic patients, 119 patients with non-inflammatory rheumatic diseases (NIRD), 36 RF- and 123 RF + RA patients and 204 healthy controls. APFs were investigated with an indirect immunofluorescence (IIF) test using epithelial cells from human buccal mucosa as a substrate. 6/76 (7.9%) PA patients were APF+. The incidence was greater than in healthy controls (2/204; p < 0.01) and similar to the incidences in patients with uncomplicated psoriasis (1/38; p = NS) and patients with non-inflammatory rheumatic disease NIRD (5/119; p = NS). However, the incidence was much lower than in RF- (19/36; p < 0.001) as well as RF+ (111/123; p < 0.001) RA patients. Finally, we emphasise that 3 out of 6 APF positivities shown by PA patients were found in our 3 patients with pustolotic arthroosteitis, a new specific entity in the spectrum of PA.

Antibodies, Antinuclear↗
PubMed1999

Antiperinuclear factor in psoriatic arthropathy.

BACKGROUND: Antiperinuclear factor (APF) is an autoantibody directed against (pro)-filaggrin molecules. OBJECTIVE: We evaluated whether APF determination is useful for the diagnosis of psoriatic arthritis (PA). METHODS: We determined APF titers in sera from patients with PA (n = 76), psoriasis vulgaris (n = 38), noninflammatory rheumatic diseases (NIRDs, n = 119), rheumatoid arthritis (RA, n = 159) both with negative (n = 36) and positive (n = 123) rheumatoid factor (RF) tests, as well as from 204 healthy controls. We used an indirect immunofluorescence test on epithelial cells from human buccal mucosa as a substrate. RESULTS: In patients with PA, 7.9% of the serum samples were APF-positive. The incidence was greater than in healthy controls (1.0%; P < .01), similar to those with uncomplicated psoriasis (2.6%; P = NS) and NIRDs (4.0%; P = NS), and lower than in RF-negative (52.7%; P < .001) and RF-positive (90.2%; P < .001) patients with RA. Three APF-positive patients with PA had symmetric joint involvement and 3 had pustulotic arthroosteitis. CONCLUSION: The APF test may be useful in differentiating PA from RA, and APF may be specific for two PA subgroups.

Antibodies, Antinuclear↗
PubMed1999

Chilblain lupus erythematosus is associated with antibodies to SSA/Ro.

Chilblain lupus erythematosus (CL) of Hutchinson is a subtype of lupus erythematosus (LE) characterized by erythematous lesions induced by cold, damp climates. A number of patients affected by CL eventually develop features of systemic lupus erythematosus (SLE). We report here 9 patients with chilblain cutaneous lesions, 6 of them were affected by SLE and 2 by SCLE. The onset of CL preceded the diagnosis of LE, from 1 to 10 years in 3 cases, it was concurrent in one case and was subsequent in the remaining 4 cases. Raynaud's phenomenon and photosensitivity were other prominent clinical features in patients with CL. Nailfold capillaroscopy revealed pathological changes in every patient examined. ANA and anti-SSA/Ro antibodies were detected in all nine patients. Anti-SSB/La were detected in 2 cases, anti-Sm in one case, and anti-Sm and anti-RNP in a one case. Antibodies to dsDNA and complement consumption were found in the six patients with SLE. The fine specificity of anti-SSA/Ro was determined by immunoblotting: anti-60kD and anti-52 kD were detected in three sera, anti-60kD alone in 5 sera, while one serum did not blot. In conclusion, the present study suggests that chilblain LE is associated with SSA/Ro autoantibodies, as is SCLE, hypergammaglobulinemic purpura and neonatal lupus erythematosus.

Adolescent↗
PubMed1998

Determination of antibodies to extractable nuclear antigens by commercial kits: a multicenter study.

Several enzyme immunoassays for serum antibodies to extractable nuclear antigen have recently become available. The aim of this study was to evaluate the results obtained with: (1) the same kit under different conditions; (2) different enzyme immunoassays; (3) Western blot and enzyme immunoassays. Twenty-five sera from patients with autoimmune disorders were tested in five different laboratories by one Western blot and four enzyme immunoassay commercial kits. The different methods produced comparable qualitative results. However, semiquantitative evaluation, based on a cut-off value (index), yielded different results due both to laboratory conditions and to the kits employed. Standardization of commercial products and methods should be improved so that the results of different laboratories can be compared and large-scale and follow-up studies conducted. Western blot analysis could also be useful to analyze complex reactivities, although greater experience is necessary to interpret these results correctly.

Antibodies, Antinuclear↗