Individuals with two or more copies of the MECP2 gene, located at Xq28, share clinical features and a distinct facial phenotype known as MECP2 Duplication syndrome. We have examined perinatal characteristics, early childhood development and medical co-morbidities in this disorder. The International Rett Syndrome Phenotype Database (InterRett), which collects information from caregivers and clinicians on individuals with Rett syndrome and MECP2 associated disorders, was used as the data source. Data were available on 56 cases (49 males and 7 females) with MECP2 Duplication syndrome. Median age at ascertainment was 7.9 years (range: 1.2-37.6 years) and at diagnosis 3.0 years (range: 3 weeks-37 years). Less than a third (29%) learned to walk. Speech deterioration was reported in 34% and only 20% used word approximations or better at ascertainment. Over half (55%) had been hospitalised for respiratory infections in the first 2 years of life. Just under half (44%) had seizures, occurring daily in nearly half of this group. The majority (89%) had gastrointestinal problems and a third had a gastrostomy. Following the recent demonstration of phenotype reversal in a mouse model of MECP2 Duplication, a clear understanding of the natural history is crucial to the design and implementation of future therapeutic strategies.

Benefits of KD in the CDKL5 disorder are in keeping with previous trials on refractory epilepsies. However, poor long-term efficacy remains as a significant barrier. In view of its side effect profile, KD administration should be supervised by a pediatric neurologist and specialist dietician.

Treatment of degenerative aortic stenosis has been transformed by transcatheter aortic valve implantation (TAVI) over the past 10–15 years. The success of various technologies has led operators to attempt to broaden the indications, and many patients with native valve aortic regurgitation have been treated ‘off label’ with similar techniques. However, the alterations in the structure of the valve complex in pure native aortic regurgitation are distinct to those in degenerative aortic stenosis, and there are unique challenges to be overcome by percutaneous valves. Nevertheless some promise has been shown with both non-dedicated and dedicated devices. In this article, the authors explore some of these challenges and review the current evidence base for TAVI for aortic regurgitation.

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Aims We aimed to identify a ‘frequent admitter’ phenotype among patients admitted for acute decompensated heart failure (HF). Methods and results We studied 10 363 patients in a population‐based prospective HF registry (2008–2012), segregated into clusters based on their 3‐year HF readmission frequency trajectories. Using receiver‐operating characteristic analysis, we identified the index year readmission frequency threshold that most accurately predicts HF admission frequency clusters. Two clusters of HF patients were identified: a high frequency cluster (90.9%, mean 2.35 ± 3.68 admissions/year) and a low frequency cluster (9.1%, mean 0.50 ± 0.81 admission/year). An index year threshold of two admissions was optimal for distinguishing between clusters. Based on this threshold, ‘frequent admitters’, defined as patients with ≥ 2 HF admissions in the index year (n = 2587), were of younger age (68 ± 13 vs 69 ± 13 years), more often male (58% vs. 54%), smokers (38.4% vs. 34.4%) and had lower left ventricular ejection fraction (37 ± 17 vs. 41 ± 17%) compared to ‘non‐frequent admitters’ (< 2 HF admissions in the index year; n = 7776) (all P < 0.001). Despite similar rates of advanced care utilization, frequent admitters had longer length of stay (median 4.3 vs. 4.0 days), higher annual inpatient costs (€ 7015 vs. € 2967) and higher all‐cause mortality at 3 years compared to the non‐frequent admitters (adjusted odds ratio 2.33, 95% confidence interval 2.11–2.58; P < 0.001). Conclusion ‘Frequent admitters’ have distinct clinical characteristics and worse outcomes compared to non‐frequent admitters. This study may provide a means of anticipating the HF readmission burden and thereby aid in healthcare resource distribution relative to the HF admission frequency phenotype.

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We conclude that there is moderate to substantial concordance between AA and BGA machines on tests performed in critically ill patients. However, the two tests methods cannot be used interchangeably, except for potassium.

The Nexplanon® implant is a commonly used radiopaque contraceptive device that contains progestogen associated with an ethylene vinyl-acetate copolymer resulting in a slow release of the active hormonal ingredient. It is inserted into the subdermal connective tissue and provides contraceptive efficacy for up to 3 years. Device removal for clinical, personal or device “end-of-life span” reasons is straightforward. In rare cases, implant migration can occur locally within centimeters of the insertion site. Distant device embolization is extremely rare and can result in complications including chest pain, dyspnoea, pneumothorax and thrombosis or prevent conception until the active ingredient is depleted. We present one such case, where a Nexplanon® implant embolized into the pulmonary artery of a young female patient. We describe the initial “missed” diagnosis of embolized device on a chest radiograph and subsequent successful percutaneous removal once distant embolization was diagnosed.