Biomedical subjects
Publications and source records attributed to R La Corte.
Observation of a case of CREST syndrome associated with autoimmune chronic hepatopathy (so-called Reynolds syndrome) and Sjögren's syndrome brings to the fore the importance of symptomatological superimpositions within the autoimmune diseases. A number of diagnostic and pathogenetic aspects of this rare disease association are discussed.
Systemic Sclerosis (SSc) is a systemic disease of unknown etiology presenting with disseminated skin thickening and fibrotic impairment of various organs including lung and kidney. According to the rate and degree of skin involvement, SSc can be classified in a limited and a diffuse form, the latter showing a severe and progressive lung involvement, which is responsible for its high related morbidity and mortality along with resistance to standard therapeutic protocols. High dose chemotherapy, followed by autologous stem cell transplantation, is a standard therapeutic regimen for haematological diseases: re-infusion of mobilised peripheral blood progenitor cells overcomes the myeloablative effect of super-maximal eradicative doses of chemotherapeutic agents. Recently, this therapeutic approach has been applied in some cases of resistant SSc and, albeit the low number of cases, it has been proven effective in early diagnosed and rapidly progressive forms of the disease showing a clinical improvement and an instrumentally detectable decrease of fibrosis extent. We report the case of a young woman affected by diffuse SSc with a rapid progression of clinical signs and instrumentally detectable lesions who underwent a conditioning regimen with fludarabine, cyclophosphamide and anti-thymoglobulines followed by re-infusion of autologous peripheral blood stem cells. Two years after transplantation a clinical and instrumental evidence of treatment was observed, with good control of disease evolution. The only sign of disease resumption was a slow worsening of skin involvement.
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.
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