Biomechanical podiatric evaluation in an Italian cohort of patients with systemic sclerosis: A pilot study.

OBJECTIVE: Foot problems are often present in Systemic Sclerosis (SSc) patients, however studies regarding podiatric problems related to SSc are lacking and there are no data evaluating the foot biomechanical changes. The aim of the present pilot study was to evaluate podiatric problems in an Italian cohort of SSc patients by assessing received podiatric services, foot pain and disability and biomechanical foot deformity. MATERIAL AND METHODS: 25 consecutive SSc patients were enrolled from the Division of Rheumatology, University of Florence. All SSc patients were assessed by: Standards of Care for People with Foot Musculoskeletal Health problems: Audit Tool, Foot Function Index (FFI), Weight and non-weight bearing foot joint assessment, (Foot Posture Index (FPI) and Gait Cycle), Health Assessment Questionnaire (HAQ) and Medical Outcomes Survey Short Form 36 (SF-36). RESULTS: Audit Tool - Only 7 (28%) out of the 25 patients with SSc had a specific podiatric assessment and treatment: no patient received a foot health assessment within the first 6 months of disease diagnosis and no patient received information about foot involvement. 1 patient (4%) received foot assessment every year; 1 patient (4%) received specific information about the disease and 5 patients (20%) received information about the benefits of using adapted footwear and insoles. FFI - Values of pain, disability and activity limitations, reported in FFI, are 4.7±5.1, 5.1±3.2 and 3.2±3.1 (M±DS), respectively. Non-weight bearing foot joint assessment shows a rearfoot varus deformity in 64% of patients, forefoot varus deformity in 42% and 6% forefoot valgus deformity. Weight bearing foot joint assessment, through FPI shows a pronated foot 20% of patients with and 34% with highly pronated overall foot posture. Gait analysis shows that 64% of patients has a contact of the calcaneus in invertion while 36% in eversion. In the midstance, 78% have the foot in pronation and 22% in supination, while in propulsion 12% presents a takeoff of the foot in supination and 88% in the pronation. HAQ result is 1.13±0.80, SFI and SMI scales of SF-36 have scores of 32.38±10.65 and 38.67±11.40, respectively. CONCLUSION: Our results shows that podiatric problems in SSc patients are common, serious but foot assessment and health care are inadequate. Thus, foot health information should be improved in order to better empower patients to self-manage low risk problems and help identify high-risk problems, which require specialist care.

Manual lymph drainage improving upper extremity edema and hand function in patients with systemic sclerosis in edematous phase.

OBJECTIVE: In systemic sclerosis (SSc; scleroderma) patients in edematous phase, hand edema is often present. Manual lymph drainage (MLD) stimulates the lymphatic system and reduces edema. Our aim was to evaluate the efficacy of MLD in reducing edema and in improving functionality of the hands and perceived quality of life (QOL) in SSc patients in edematous phase. METHODS: Of 35 SSc patients with edematous hands, 20 were treated with MLD according to the Vodder technique once a week for 5 weeks (intervention group), and 15 served as the observation group. Patients were evaluated at enrollment, at the end of treatment (T1), and after 9 weeks of followup (T2) by volumetric test (assessing hand volume), the Hand Mobility in Scleroderma (HAMIS) test, and 4 visual analog scales (VAS; scored 0-10) evaluating the perception of hand edema and pain and their interference on daily activities. QOL and disability were assessed by the physical synthetic index (PSI) and mental synthetic index (MSI) of the Short Form 36 (SF-36) and by the Health Assessment Questionnaire (HAQ). RESULTS: In the intervention group, hand volume, the HAMIS test, and the 4 VAS were improved significantly at the end of treatment (P < 0.001). The results were maintained at T2 (P < 0.001). The HAQ and the PSI and MSI of the SF-36 also improved significantly at T1 (P < 0.001), but only PSI improvement was maintained at T2 (P < 0.001). In the observation group, no improvement at T1 and at T2 was observed. CONCLUSION: In SSc, MLD significantly reduces hand edema and improves hand function and perceived QOL.

Efficacy of connective tissue massage and Mc Mennell joint manipulation in the rehabilitative treatment of the hands in systemic sclerosis.

Rehabilitation may contribute to the management of systemic sclerosis (SSc) dealing with disabilities due to hand involvement. The aim of this study is to evaluate the efficacy of a rehabilitation programme based on the combination of connective tissue massage and Mc Mennell joint manipulation specifically conceived for SSc patients' hands. Forty SSc patients were enrolled: 20 (interventional group) were treated for a 9-week period (twice a week, 1 h per session) with a combination of connective tissue massage, Mc Mennell joint manipulation and home exercise programme, and 20 (control group) were assigned only to home exercise programme. Patients of both groups were assessed at baseline (T0), after 9 week (T1) and at a 9 weeks follow-up (T2). They were evaluated for quality of life by SF-36 and Health Assessment Questionnaire (HAQ), hands involvement by Hand Mobility in Scleroderma (HAMIS) test, Cochin hand functional disability scale and the measurements of ROM. In the interventional group, fist closure, HAMIS test and Cochin hand functional disability scale improved at the end of the treatment (p < 0.0001) as well as HAQ, Physical Synthetic Index (PSI) and Mental Synthetic Index (MSI) of SF-36 scores (HAQ and PSI, p < 0.0001; MSI, p < 0.001). In the control group, the programme of home daily exercises improved only fist closure at the end of the treatment (p < 0.0001). The combination of connective tissue massage, Mc Mennell joint manipulation and home exercise programme is effective in the rehabilitative treatment of SSc hands. This combined treatment may lead to an improvement of hand function and quality of life.

Sjögren's Syndrome Disease Damage Index and disease activity index: scoring systems for the assessment of disease damage and disease activity in Sjögren's syndrome, derived from an analysis of a cohort of Italian patients.

OBJECTIVE: To develop valid instruments for the assessment of disease-related damage and disease activity in Sjögren's syndrome (SS). METHODS: Data on 206 patients with primary SS were collected in 12 Italian centers. Each patient was scored by 1 investigator, on the basis of a global assessment of the degree of disease damage and disease activity. Patients judged to have active disease at the time of enrollment underwent a second evaluation after 3 months. Univariate and multivariate analyses were performed to select the clinical and serologic variables that were the best predictors of damage and of disease activity, and these variables were used to construct the Sjögren's Syndrome Disease Damage Index (SSDDI) and the Sjögren's Syndrome Disease Activity Index (SSDAI). The weight of each variable in the index was determined by the beta coefficients in multivariate regression models. Scores obtained using the SSDDI and the SSDAI were compared with scores initially given by the investigators. Finally, a receiver operating characteristic (ROC) curve was used to determine the cutoff value in the SSDAI with the highest level of accuracy in identifying patients with a significant level of disease activity. RESULTS: A multivariate model with 9 variables was the best predictor of investigator scores of damage. The scores obtained using the SSDDI were closely correlated with investigator ratings (R = 0.760, P < 0.0001). A model composed of 11 variables was the best predictor of investigator scores of disease activity. The scores obtained using the SSDAI were strongly correlated with the investigator ratings both at the time of enrollment and 3 months after enrollment (R = 0.872, P < 0.0001, and R = 0.817, P < 0.0001, respectively). The differences between scores given by investigators at study enrollment and after 3 months, a measure of variation of disease activity over time, were also closely correlated with the differences calculated using the SSDAI (R = 0.683, P < 0.0001). The ROC curve analysis showed that patients with the highest level of disease activity could be identified on the basis of an SSDAI score of >or=5. CONCLUSION: Our findings indicate that the SSDDI is an adequate instrument to objectively measure damage in patients with SS, and that the SSDAI is a valid tool to measure disease activity when used either as a single-state index or as a transition index.

Anti-cyclic citrullinated peptide antibodies are highly associated with severe bone lesions in rheumatoid arthritis anti-CCP and bone damage in RA.

In the present study we investigated the predictive value of anti-cyclic citrullinated peptide antibodies (anti-CCP) in early rheumatoid arthritis (RA) with respect to the bone damage. Fifty-four patients with early RA (onset <12 months), 35 classified as established RA (onset >12 months), 33 healthy donors and 76 non-RA autoimmune diseases, were enrolled. Anti-CCP and IgG, IgA, IgM rheumatoid factors (RFs) were determined at baseline. Disease activity score (DAS 28) was calculated at the entry. Bone involvement was evaluated by X-rays and sonography. The specificity of anti-CCP was 98.4%; significantly higher than those of the IgM- (86.0%), IgA- (86.0%) and IgG-RFs (66.2%), respectively. Anti-CCP were detected in 23/54 (42.6%) early RA patients and in 16/35 (45.7%) established RA patients. In the early RA group, 6/33 (18.2%) of the patients without bone lesions, 12/16 (75%) with juxta-articular osteoporosis (JO) and 5/5 with joint erosions (JE) resulted positive showing a significant difference between the groups without and with radiological damage. In the established RA group a significant difference being between the group without radiological damage and that with JE was found. Finally, in patients without radiological lesions, examined by ultrasound, anti-CCP antibodies were detected only in subjects with pathologic findings (31.25%). Data here reported confirm that the presence of anti-CCP are specific for diagnosis of RA, of recent onset also and they are potentially useful as prognostic index of bone involvement.

Two novel mutations at exon 8 of the Sequestosome 1 (SQSTM1) gene in an Italian series of patients affected by Paget's disease of bone (PDB).

UNLABELLED: PDB is genetically heterogeneous. Mutations of the sequestosome1 gene have been reported in sporadic and familial forms of Paget's in patients of French Canadian and British descent. Mutational analyses in different ethnic groups are needed to accurately investigate hereditary diseases. We describe two novel mutations of sequestosome1 in 62 Italian sporadic patients, confirming the role of the encoded protein in this disorder. INTRODUCTION: Paget's disease of bone (PDB) is a relatively common disease of bone metabolism reported to affect up to 3% of whites over 55 years of age. The disorder is genetically heterogeneous, and at present, there is scientific evidence that at least eight different human chromosomal loci are correlated with its pathogenesis. Mutations of the sequestosome1 (SQSTM1) gene were identified as responsible for most of the sporadic and familial forms of Paget in patients of French Canadian and British descent. Such mutations were located at exon 7 and 8 levels, encoding for the ubiquitin protein-binding domain (UBA) and representing a mutational hot spot area. MATERIALS AND METHODS: To verify the involvement of this gene in Italian subjects affected by PDB, we performed mutational analysis in 62 sporadic PDB cases. RESULTS: We described three different mutations at exon 8 level: P392L, already described in the French Canadian population and families predominantly of British descendent, and two novel mutations consisting of the amino acid substitutions M404V and G425R. No significant differences in the clinical history of PDB have been observed in patients with SQSTM1 mutations in respect to those without. CONCLUSIONS: Even though our findings suggest a minor involvement of the SQSTM1 gene in the pathogenesis of sporadic Italian Paget's cases, the identification of different significant mutations within the SQSTM1 gene in unrelated, but clinically similar individuals, offers extremely convincing evidence for a causal relationship between this gene and PDB. Longitudinal studies are needed to assess the penetrance of genotype/phenotype correlations. Our findings confirm the evidence of a clustered mutation area at this level in this disorder.