Ocular involvement in children with localised scleroderma: a multi-centre study.

BACKGROUND: Most of the available documentation in the literature on ocular involvement in localised scleroderma (LS) are descriptions of single cases in adult patients. This article reports the frequency and specific features of ocular involvement in a large cohort of children with juvenile LS (JLS). METHODS: Data from a large, multi-centre, multinational study of children with LS were used to collect and analyse specific information on ocular involvement. RESULTS: 24 out of 750 patients (3.2%) revealed a significant ocular involvement. 16 were female and 8 male. 16 patients (66.7%) had scleroderma "en coup de sabre" (ECDS) of the face, 5 (20.8%) had the linear subtype, 2 (8.3%) had generalised morphea (GM) and one (4.2%) had plaque morphea (PM). Of the 24 patients with eye involvement, 10 patients (41.7%) reported adnexa (eyelids and eyelashes) abnormalities, 7 (29.2%) anterior segment inflammation (5 anterior uveitis, 2 episcleritis) and 3 central nervous system-related abnormalities. 4 patients presented single findings such as paralytic strabismus (1), pseudopapilloedema (1) and refractive errors (2). Other extracutaneous manifestations were detected in a significantly higher number of patients with ocular involvement and were mostly neurological. CONCLUSION: Ocular abnormalities are not unusual in patients with JLS, especially in the ECDS subtype. They are frequently associated with other internal organ involvement, particularly the central nervous system (CNS). Careful ophthalmic monitoring is recommended for every patient with JLS, but is mandatory in those with skin lesions on the face and/or concomitant CNS involvement.

Clinical Characteristics of Patients Carrying the Q703K Variant of the NLRP3 Gene: A 10-year Multicentric National Study.

OBJECTIVE: The aim of our study was to analyze the clinical and functional effect of the p.Q703K (p. Q705K, c. 2107C>A) variant of the NLRP3 gene in a population of patients screened for suspected cryopyrin-associated periodic syndrome (CAPS). METHODS: Since 2002, 580 patients underwent molecular analysis for NLRP3. Data on clinical presentation, response to treatment, and longterm followup were collected using a uniform questionnaire. The pattern of cytokine secretion after lipopolysaccharide stimulation from isolated monocytes was analyzed in 3 patients carrying the p.Q703K variant and 1 patient with a chronic infantile neurologic, cutaneous, articular syndrome phenotype carrying both the p.M406I and p.Q703K, and compared with 7 patients with CAPS with sure pathogenic variants and 6 healthy controls. RESULTS: The p.Q703K variant was found in 57 screened patients with an overall allelic frequency of 5%. The frequency in normal controls was 5.5%. Clinical data at the moment of molecular analysis and at followup were available in 36 patients. Two patients displayed additional mutations of NLRP3. The mean followup was 2.5 years. Thirteen patients (39%) had a final diagnosis different from the original suspicion of CAPS. The remaining 21 patients displayed a mild phenotype mainly characterized by recurrent episodes of urticarial rash and arthralgia. Only 8 patients were treated with anti-interleukin (IL)-1 treatment, with a complete response in 5 patients. The pattern of secretion of IL-1ß and other cytokines (IL-6 and IL-1 receptor antagonist) in patients did not display the aberrancies observed in patients with CAPS and was similar to that observed in healthy controls. CONCLUSION: The present study confirms the weak clinical and functional effect of the p.Q703K variant.

Effect of an 8-month treatment with omega-3 fatty acids (eicosapentaenoic and docosahexaenoic) in patients with cystic fibrosis.

BACKGROUND: Supplementation of the diet with eicosapentaenoic acid and docosahexaenoic acid, the main long-chain omega-3 fatty acids in cell membranes, may have beneficial effects in patients with cystic fibrosis. METHODS: A prospective study involving 30 patients and 20 control subjects was carried out; eicosapentaenoic plus docosahexaenoic acid was equal to 1.3% of caloric intake in the cystic fibrosis patients. Our present study included the evaluation of eicosapentaenoic and docosahexaenoic acid incorporation into erythrocyte membranes and biological and clinical effects in response to long-term (8 months) supplementation with fish oil as a source of eicosapentaenoic and docosahexaenoic acids in patients with cystic fibrosis. RESULTS: Baseline erythrocyte membrane fatty acids showed low levels of linoleic acid and eicosapentaenoic acid and mild elevation of 18:3n6, but similar docosahexanoic acid and other fatty acids in cystic fibrosis patients compared with controls. Fish oil supplementation led to a 1.7-fold (p < .05) and 1.3-fold (not significant) increase of eicosapentaenoic acid in erythrocyte membrane phospholipids after 4 and 8 months of supplementation, respectively, and to a 1.67-fold (p < .05) and 1.38-fold (p < .05) increase of docosahexanoic acid, respectively. Along with these changes, there was a progressive decrease of arachidonic acid (from 8.51 to 6.67 g/100 fatty acids at 4 months and 4.83 g/100 fatty acids at 8 months; p < .05) and an increase of linoleic acid (p < .05) in membrane phospholipids. Analysis of inflammatory markers showed a significant decrease of serum immunoglobulin G (IgG) and of alpha-1 antitrypsin (p < .05) concentrations. Pulmonary function testing showed mild but significant improvement of forced expiratory volume (FEV)-1 from 61% +/- 19% to 57% +/- 19% of predicted values (p < .05). The number of days of antibiotic therapy during the study period was markedly lower compared with the preceding 8-month period (392 versus 721 days; p < .05). CONCLUSION: Long-term eicosapentaenoic plus docosahexanoic acid supplementation (8 months) has positive effects, such as decreasing inflammation, in cystic fibrosis.