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Objectives: To investigate potential associations between the PlA1/A2 polymorphism of the platelet glycoprotein receptor IIIA (GpIIIa) gene and venous thrombosis and other clinical manifestations in Italian patients with Behçet's disease (BD)., Methods: Two hundred consecutive Italian patients satisfying the International Study Group criteria for BD who were followed up for seven years and 241 healthy Italian age- and gender-matched blood donors were molecularly genotyped for the PlA1/A2 polymorphism of the platelet GpIIIa gene; 118 and 117 of the 200 BD patients were also respectively genotyped for factor V Leiden and prothrombin gene G20210A polymorphisms. A standard microlymphocytotoxicity technique was used to type serological HLA class B51. The patients were grouped on the basis of the presence or absence of clinical manifestations. The diagnoses of deep vein thrombosis (DVT) and superficial thrombophlebitis were initially made clinically, and then confirmed by means of ultrasonography or contrast venography. The distribution of the PlA1/A2 genotype was investigated, and odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated., Results: The allele and genotype frequency of the PlA1/A2 polymorphism were not significantly different in the BD patients and controls, but the PlA2 allele was significantly more frequent in the BD patients with DVT than the controls (p=0.023; Pcorr=0.046; OR 2.0, 95% CI 1.1-3.7). There were no associations between thrombotic events and the PlA1/A2 polymorphism in the BD patients carrying factor V Leiden or prothrombin gene G20210A mutations. The PlA2 allele was significantly less frequent in the BD patients with genital genital ulcers than in those without (26.9% vs. 43.2%; p=0.022; P corr 0.044; OR 0.48, CI 0.27-0.88)., Conclusions: The PlA1/A2 polymorphism of the GpIIIa gene was associated with DVT in our Italian BD patients, but does not seem to increase the risk of DVT due to factor V Leiden or prothrombin gene G20210A mutations. There was a negative association between the A2 allele and genital ulcers.

Objectives: To estimate, using both the American College of Rheumatology-ACR 1980 classification criteria and revised LeRoy and Medsger 2001 criteria, the incidence and prevalence of systemic sclerosis (SSc) in an area in north-eastern Italy with a referral base population of about 346,000 inhabitants., Methods: Retrospective examination of all patients 16 years and older of native Italian origin and resident in the Ferrara district who had either been admitted to hospital or referred to our outpatient clinic with a diagnosis of SSc between 1st January 1999 and 31st December 2007. SSc subjects were identified both by a search of hospital discharge code 710.1, as per the international classification of disease-9 codes, and using a computerised search for this pathology code in the national health care system. The subjects referred to our outpatient clinic were identified from a dedicated data base. Incidence and prevalence rates were calculated as the number of cases per 100,000 inhabitants (population data based on the October 2001 national census). The medical records of each potential case were accurately examined and reviewed by the same physician who determined whether those patients identified as having a diagnosis of SSc did indeed meet the ACR 1980 classification criteria for SSc and/or the LeRoy and Medsger 2001 criteria., Results: After reviewing all cases, of the 118 patients meeting the LeRoy-Medsger 2001 criteria, only 88 patients had a definitive diagnosis of SSc according to the ACR 1980 criteria. Considering the ACR criteria, the prevalence rate was 25.4 cases per 100,000 (95% CI: 22.2-28.6), and the annual incidence rate over the study period was 3.2 per 100,000 (95% CI: 2.0-4.4). Considering the LeRoy and Medsger criteria epidemiological data were respectively 34.1 cases per 100,000 (95% CI: 30.4-37.8) and 4.3 cases per 100,000 (95% CI: 3.0-5.6). According to the LeRoy and Medsger criteria, the SSc subsets were broken down as follows: 20 limited-SSc (19.2%), 76 limited cutaneous-SSc (62.1%), 22 diffuse cutaneous-SSc (18.7%). The female/male ratio was 9.7:1., Conclusions: Incidence and prevalence of SSc observed in an area in north-eastern Italy were found to be higher than reported in the various geographical area (UK, US, Australia, etc.) but similar to another Italian study adopting, as here, the LeRoy-Medsger criteria. The different diagnostic criteria adopted may explain some of the differences found in comparison to the studies based only on the ACR criteria, however, regional discrepancies in disease occurrence cannot easily be dismissed only on the basis of methodological approaches to case definition or ascertainment; genetic, ethnic and environmental factors should also be considered. Currently the main challenge remains to determine the scientific basis for the observed differences, distinguishing between changes deriving from geographic/ethnic features and from the analytic methods.

Objective: To investigate potential associations between toll-like receptor 4 (TLR4) gene polymorphisms and susceptibility to, clinical features, and severity of Behçet's disease (BD)., Methods: A total of 189 Italian patients who satisfied the International Study Group criteria for BD and 210 healthy age- and sex-matched blood donors were genotyped for two coding single nucleotide polymorphisms of TLR4 (Asp299Gly and Thr399Ile) by molecular methods. The patients were subgrouped according to the presence or absence of clinical manifestations. Severity score was calculated., Results: The distribution of allele and genotype frequencies did not differ significantly between the BD patients and the healthy controls. No significant associations were found when BD patients with and those without clinical manifestations were compared. No association between TLR4 polymorphisms and severity score was observed., Conclusion: Our data suggest that the TLR4 gene polymorphisms are not associated with susceptibility to, clinical expression of, and severity of BD in Italian patients.

Objective: To investigate potential associations between A-13G and G79A polymorphisms of the protein Z gene and venous thrombosis and other clinical manifestations in Italian patients with Behçet's disease (BD)., Methods: 176 Italian patients who satisfied the International Study Group criteria for BD and 134 healthy age- and sex- matched blood donors were genotyped for A-13G and G79A polymorphisms of the protein Z gene by molecular methods. 113 and 112 of the 176 BD patients were also genotyped for factor V Leiden and prothrombin gene G20210A polymorphisms. Serological HLA class B51 typing was performed by a standard microlymphocytotoxicity technique. The patients were subgrouped according to the presence or absence of clinical manifestations., Results: The distribution of allele and genotype frequencies of A-13G and G79A polymorphisms did not differ significantly between BD patients and healthy controls.The frequencies of carriage rates of protein Z G79A and A-13G polymorphisms in BD patients with and without DVT were similar. Similarly, no associations between thrombotic events and the protein Z gene polymorphisms studied were observed in BD patients carrying factor V Leiden or prothrombin gene G20210A mutations. No significant associations were observed between protein Z polymorphisms and the occurrence of specific clinical findings., Conclusion: No association between DVT and A-13G or G79A polymorphisms of the protein Z gene was found in Italian BD patients. Furthermore, these protein Z polymorphisms in BD do not seem to increase the risk of DVT due to factor V Leiden or prothrombin gene G20210A mutations.

Objective: To evaluate the efficacy of intravenous (i.v.) pamidronate in patients with SAPHO syndrome refractory to first line treatments and to review the available literature on pamidronate for this indication., Methods: We report 14 cases of SAPHO syndrome refractory to non-steroideal anti-inflammatory drugs (NSAIDs), glucocorticoids and disease modifying anti-rheumatic drugs (DMARDs) treated with i.v. pamidronate. All patients received i.v. 60 mg pamidronate/day for 3 consecutive days. The primary evaluation criterion was the disappearance of bone pain, considered as the reduction in the visual analogic scale for pain (VAS) greater than 50%., Results: Ten patients were females and 4 were males. The mean age at onset was 40.4 years old. Ten patients presented a relapsing-remitting course, while in 4 cases the disease followed a prolonged course. In all cases anterior chest wall involvement occurred early in the disease. In 2 cases there was also a peripheral monoarthritis. Eleven patients experienced several flares of palmo-plantar pustulosis, while severe acne was present in 2. In one case there was no cutaneous involvement. Twelve of the 14 patients had a good response after 3 infusions and in 8 of these patients a sustained remission was observed. The recurrence of skin manifestations does not seem to be influenced by pamidronate., Conclusions: Pamidronate appears to be an effective treatment in the osteo-articular manifestations of SAPHO syndrome. As far as cutaneous lesions are concerned, evidence of efficacy is not so impressive.

Objective: To determine the type and frequency of clinical features of Behçet's disease in a population of Italian patients., Methods: We retrospectively studied 137 Italian patients (76 males and 61 females, age at onset 29.6 +/- 12.2 [mean +/- SD] years) seen consecutively in nine different referral centers. The duration of follow-up at study entry was 10.9 +/- 8.2 years. Virtually all patients fulfilled the classification criteria developed by the International Study Group for Behçet's disease. The clinical manifestations of the patients were recorded by the attending physicians using specifically designed forms., Results: The most frequent manifestations at disease onset were oral (78.3%) and genital aphthae (29.2%) followed by inflammatory ocular involvement (20%) and arthritis (14.2%). The commonest (>50% of cases) manifestations observed throughout the disease course were oral aphthae (99.3%), genital aphthae (62.8%), various cutaneous lesions including erythema nodosum (81.8%), and inflammatory ocular disease (60.6%). Panuveitis and posterior uveitis/retinitis occurred more frequently in males compared with females (28.9% versus 11.5% and 57.9% versus 36.1%, respectively; p < 0.05). 61.6% of our patients were HLA-B51 positive., Conclusion: Behçet's disease in Italian patients is characterized by a variety of clinical manifestations in agreement with the medical literature. Panuveitis and posterior uveitis/retinitis occur more frequently in male patients.

The presentation, severity and prognosis of rheumatoid arthritis (RA) differ depending on the age of disease onset. Elderly onset RA (EORA: age of onset > 60 years) has been reported to differ from younger-onset RA (YORA) by a more balanced gender distribution, a higher frequency of acute onset often associated with systemic features, more frequent involvement of the shoulder girdle and higher disease activity. To add to our knowledge of this disease, 101 EORA and 88 YORA patients, not previously treated with DMDARs or steroids, were studied and compared, paying particular attention to the onset. The female to male ratio was higher in the YORA group (4.4:1 vs 1.6:1; p < 0.05). The disease duration was similar: 5.6 +/- 3.3 months in EORA and 7.9 +/- 3.8 months in YORA. EORA presented a more frequent acute onset (33.6% vs 13.6%; p < 0.05) especially if rheumatoid factor was absent. This subset also showed more frequent polymyalgic onset. Constitutional symptoms (fever, weight loss, fatigue) were more frequent in EORA patients without differences between seropositive and seronegative patients. The distribution of involved joints showed a significantly higher frequency of shoulder involvement in EORA (64% vs 38%; p < 0.05) and of feet involvement in YORA (25% vs 52%; p < 0.05). Hands and wrists were the most frequently involved joints in all patients.

Thirty-six patients with primary Sjögren's syndrome (pSS) and 60 healthy volunteers underwent provocative bronchial testing with aerosolized dosed methacholine. On the average, pulmonary functions tests performed before bronchial testing were normal. However, 18/36 patients (50%) had bronchial hyper-responsiveness (BH), an incidence higher that that found in our control population (6.6%). No difference between BH and normally responsive patients was found in the duration of disease, immunological abnormalities or symptoms, and only the FEF50 was significantly lower in the BH group. It is therefore hypothesized that in pSS bronchial hyper-responsiveness may be due to lymphocytic inflammation and an alteration in secretion secondary to gland damage.

SAPHO has recently been proposed as an acronym to identify a syndrome characterized by synovitis, acne, pustulosis, hyperostosis and osteomyelitis. Several authors have, however, found that this rare condition may even occur without cutaneous manifestations. The work reported here presents the case of a 43-year-old male with skeletal involvement alone. An in-depth study of the patient revealed the arthro-osteitic pattern typical of the SAPHO syndrome. In agreement with previous reports, these data confirm that the present clinical picture of hyperostosis and osteitis, even without cutaneous involvement, is nonetheless related to the SAPHO syndrome.