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The occurrence of frequent MEFV mutations in BD patients suggests that the MEFV gene is involved in the pathogenesis of Behçet's disease.

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Aim The aim of this study is to evaluate the effects of the synbiotic Bifidobacterium lactis B94 plus inulin addition to the standard triple therapy on Helicobacter pylori (H. pylori) infection eradication rates. Methods Children aged 6–16 years who had biopsy proven H. pylori infection were randomly classified into two groups. The first group received the standard triple therapy consisting of amoxicillin + clarithromycin + omeprazole. The second group was treated with the standard triple therapy and Bifidobacterium lactis B94 (5 × 109 CFU/dose) plus inulin (900 mg) for 14 days, concurrently. Eradication was determined by 14C-urea breath test 4–6 weeks after therapy discontinuation. Results From a total of 69 H. pylori infected children (F/M = 36/33; mean ± SD = 11.2 ± 3.0 years), eradication was achieved in 20/34 participants in the standard therapy group and 27/35 participants in the synbiotic group. The eradication rates were not significantly different between the standard therapy and the synbiotic groups [intent-to-treat, 58.8% and 77.1%, resp., p = 0.16; per-protocol, 64.5% and 81.8%, resp., p = 0.19]. There was no difference between the groups in terms of symptom relief (p = 0.193). The reported side effects were ignorable. Conclusion Considering the eradication rates, synbiotic addition to therapy showed no superiority over the standard triple therapy conducted alone. This trial is registered with NCT03165253.

We present a 12-year-old girl with de novo karyotype 46,XX,del(12)(p11.1p12.1). Array CGH revealed in addition to a 10.466 Mb interstitial deletion on 12p11.1→12p12.1 a 0.191 Mb deletion on 2p16.3. The girl presented with mild facial dysmorphism consisting of microcephaly, hypertelorism, downslanting palpebral fissures, strabismus, broad nasal base, bulbous nose, short philtrum, micro/retrognathia, irregular tooth arrangement, phalangeal deformity in distal phalanges of hands, 5th finger camptodactyly, brachydactyly in feet, history of joint hypermobility, and scoliosis. She was considered to have mild to moderate mental retardation and ascertained for an autism spectrum disorder(ASD). Short arm of chromosome 12 interstitial deletions are rarely reported whereas point mutations and deletions of NRXN1, which is located on chromosome 2p16.3, are associated with ASDs. In this article we present and discuss the phenotypic consequences of a patient who was affected by deletions of two different chromosomal regions.