Noonan syndrome (NS) is a developmental disorder characterised mainly by cardiac defects and craniofacial dysmorphia. An association between NS and some autoimmune diseases, such as thyroiditis and systemic lupus erythematosus (SLE), has been suggested. We report the case of a 28-year-old man with a diagnosis of NS and autoimmune hypothyroidism who developed symptoms and immunologic features of SLE.
We report the results of a randomized, double-blind, double-dummy, multicenter, parallel group pilot study, the objective of which was to assess whether the addition of lactulose to vitamin D and calcium supplementation for 12 months contributed to bone mineral density (BMD) maintenance in postmenopausal women with osteopenia (T-score-1 to-2.5 SD). Women in the lactulose group (n=19) received lactulose 15 mL/day (equivalent to 10.05 g), vitamin D3 400 IU/day and calcium carbonate 500 mg/day, and women (n=22) in the placebo group were administered lactulose placebo, vitamin D3 400 IU/day and calcium carbonate 1,000 mg/day. The baseline daily calcium intake was similar in both study groups. The primary endpoint was the BMD in the lumbar spine at the final visit. A generalized liner model was used to assess final versus baseline differences in BMD in both study groups. Differences in least-square means of BMD between lactulose and placebo were not statistically significant both in the per-protocol data set (-0.012, 95% CI-0.031 to 0.007, P=0.224) and in the intention-to-treat population (-0.005, 95% CI-0.025 to 0.016, P=651). As we have not found differences within the two study groups, the addition of lactulose to 500 mg of calcium carbonate associated with vitamin D supplementation could have similar effects on lumbar BMD as 1.000 mg of calcium carbonate. These findings may indicate that lactulose may improve calcium absorption in postmenopausal women. A long follow-up study with a greater number of subjects would be necessary to confirm these preliminary observations.
Background The diagnosis and therapeutic approach to early onset rheumatoid arthritis (RA) patients may be influenced by their access to specialized healthcare units. Objectives To assess diagnostic and therapeutic delays in RA in Catalonia (Spain) and their relationship with patient’s access to specialized healthcare units. Methods We carried out a cross-sectional epidemiological survey in 19 Catalonian Rheumatology Centres. Ten consecutive patients newly diagnosed with RA (according to physician criteria) during 2009 and 2010 were recruited from each centre. Together with demographic and clinical variables, several parameters related to diagnostic delay were recorded: 1) Time from first symptom to first rheumatologist appointment, 2) Referral time from General Practitioner (GP) evaluation to first rheumatologist appointment, 3) Time from first symptom onset to final RA diagnosis, 4) Time from first symptom to first DMARD started. The presence/absence of specialized healthcare units was evaluated in all centres: 1) Early arthritis units (EAU), 2) RA Units (RAU), 3) Rapid/preferential programming for RA, 4) Referral algorithms from GPs 5) Primary care (PC) rheumatology units (RUPC) and 6) Primary care rheumatology advisory programme (RAPPC). Results 183 patients (51M/132F) were included. Mean age 52.7±14 years, mean disease duration 27.3±20 months. Mean delays from the first symptom were; to first rheumatology appointment 10.2±12.7 months, to final RA diagnosis 11.3±13.2 months, and first DMARD 11.1±12.8 months. 34.4% of patients had access to an EAU, 37.2% to an RA unit, 66.1% were evaluated through rapid appointment programming and 31.1% through GP referral algorithms. RUPC and RAPPC were available for 61.7% and 31.7% of patients, respectively. Time from first symptom to first DMARD was associated with EAU (8.4±10.5 vs 12.6±13.7 without EAU, p=0.015) and there was a trend to significance for PC rheumatology units (9.1±10.3 vs. 12.1±13.7, p=0.056), but there was no association with RA units, rapid appointment programming, PC rheumatology advisory or referral algorithms from GP. EAU were associated with a shorter delay from first symptom to first rheumatology appointment (7.5±10 vs. 11.6±13.7; p=0.016) and to the final RA diagnosis (8.8±11.4 vs 12.6±13.7; p=0.046). RUPC and RAPPC were associated with a shorter time between both first symptom and first GP evaluation and time to final RA diagnosis. Preferential appointment programming and referral algorithms from GP were not associated with significant differences in delays. Conclusions The mean delay from symptom onset to RA diagnosis or initiation of the first DMARD in Catalonia was 11 months. Patient’s access to specialized units, especially early arthritis units, can improve early diagnosis and treatment of RA. Disclosure of Interest None Declared
ulceration involving glans penis and diagnosed as BD after investigations. The second case was a 23-year-old man with established BD who later developed ulcers on glans penis during the course of the disease. In our 113 patients with BD, 102 patients (90.2%) had genital ulcers. Among these 102 patients having genital ulcers, only these two cases (1.9%) had ulcers localised on the glans penis. Conclusion In conclusion, the possibility of BD should also be considered in patients presenting with genital ulcer (s) with atypical localizations, such as glans penis, particularly in countries with a high prevalance of this disease.
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