Search

Objective Assess whether treatment with probiotics improve gastrointestinal symptoms in patients with systemic sclerosis (SSc). Methods In this double-blind randomized placebo-controlled parallel-group phase II trial, SSc subjects with total score ≥ 0.1 on a validated SSc-specific gastrointestinal tract (GIT) questionnaire were randomized (1:1) to receive 60 days of high dose multi-strain probiotics (Vivomixx® 1800 billion units/day) or identical placebo, followed by an additional 60 days of probiotics in both groups. Between group differences in GIT score change were assessed after 60 days (primary outcome, time-point T1) and 120 days (secondary outcome, time-point, T2) by an intention-to-treat approach. Stool samples at three time-points were subjected to 16S next generation sequencing. Results Forty subjects were randomized to placebo-probiotics (n = 21) or probiotics-probiotics (n = 19). At T1, no significant improvement was observed between the two groups, reported as mean ± SE for total GIT score (placebo 0.14 ± 0.06 versus probiotics 0.13 ± 0.07; p = 0.85) or its subdomains. At T2, whilst there was no significant improvement in total GIT score (placebo-probiotics –0.05±0.06; probiotics-probiotics –0.18 ± 0.07; p = 0.14), there was significant improvement of GIT-reflux in the probiotic group (–0.22 ± 0.05 versus placebo-probiotics 0.05 ± 0.07; p = 0.004). Subjects on probiotics exhibited increasing stool microbiota alpha diversity compared to the placebo-probiotics group. Adverse events (AEs) were mild, with similar proportion of subjects with AEs and serious AEs in both groups. Conclusion Whilst there was no clear improvement in overall GI symptoms after 60 days, we observed significantly improved GI reflux after 120 days of probiotics. The trial confirmed safety of multi-strain probiotics in SSc patients. Trial registration. Clinicaltrials.gov; NCT01804959

Nail-patella syndrome (NPS), also known as hereditary onycho-osteodystrophy (HOOD) is a rare inherited autosomal dominant disease with involvement of the LMX1 gene. We report a case of NPS with atypical involvement of the lip, palate, and lung and discuss the possible genetic associations between NPS, recurrent pneumothoraces, and cleft lip/palate.

Systemic lupus erythematosus (SLE) is a multisystem connective tissue disorder with varied clinical presentations with late onset SLE occurring after the age of 50. Involvement of the central nervous system (CNS) in SLE may range from non-focal symptoms of cognitive dysfunction, an acute confusional state, to focal symptoms of transient ischaemic attacks and strokes. We report a case of an elderly male who presented with confusion, functional decline and fevers. On admission, he was febrile with a Glasgow Coma Scale (GCS) of 11 with no other focal neurological or systemic examination findings. Initial investigations pointed towards a diagnosis of possible tuberculous meningitis with a differential diagnosis of unidentified sepsis and malignancy still being entertained. However, a newly developed purpuric skin rash helped clinch the diagnosis of SLE and he was finally diagnosed as a case of late-onset neuropsychiatric systemic lupus erythematosus (NPSLE). He was started on intravenous (IV) hydrocortisone which was later switched to a tapering dose of oral prednisolone and made a significant improvement.