Comprehensive clinical, biochemical and genetic screening reveals four distinct GBA genotypes as underlying variable manifestation of Gaucher disease in a single family.

Gaucher disease (GD) is a lysosomal storage disorder that is associated with bi-allelic pathogenic variants in GBA. Its wide clinical spectrum, ranging from mild organomegaly to significant skeletal and neurological involvement, is partially explained by genotype-phenotype correlations. We present a family, in which all members over two generations presented with at least splenomegaly. Comprehensive clinical, biochemical and genetic workup was required to diagnose GD, which is caused by as many as four distinct GBA genotypes.

To which countries do European psychiatric trainees want to move to and why?

BACKGROUND: There is a shortage of psychiatrists worldwide. Within Europe, psychiatric trainees can move between countries, which increases the problem in some countries and alleviates it in others. However, little is known about the reasons psychiatric trainees move to another country. METHODS: Survey of psychiatric trainees in 33 European countries, exploring how frequently psychiatric trainees have migrated or want to migrate, their reasons to stay and leave the country, and the countries where they come from and where they move to. A 61-item self-report questionnaire was developed, covering questions about their demographics, experiences of short-term mobility (from 3 months up to 1 year), experiences of long-term migration (of more than 1 year) and their attitudes towards migration. RESULTS: A total of 2281 psychiatric trainees in Europe participated in the survey, of which 72.0% have 'ever' considered to move to a different country in their future, 53.5% were considering it 'now', at the time of the survey, and 13.3% had already moved country. For these immigrant trainees, academic was the main reason they gave to move from their country of origin. For all trainees, the overall main reason for which they would leave was financial (34.4%), especially in those with lower (<500€) incomes (58.1%), whereas in those with higher (>2500€) incomes, personal reasons were paramount (44.5%). CONCLUSIONS: A high number of psychiatric trainees considered moving to another country, and their motivation largely reflects the substantial salary differences. These findings suggest tackling financial conditions and academic opportunities.

Final Height in Children with Idiopathic Growth Hormone Deficiency treated with Growth Hormone: Albanian experience.

Objective- To evaluate the efficiency of recombinant growth hormone for increasing adult height in children treated for idiopathic growth hormone deficiency and to evaluate the prognostic factor for height at the end of treatment. Design- Observational follow up study. Setting- Population based registry. Participants- All Albanian children diagnosed with idiopathic growth hormone deficiency who had attained final height. Their treatment started between 2001 and 2011. Main outcome measures- Annual changes in height, and change in height between the start of treatment and adulthood; the importance of the factors that influence on final height. Results- Adult height was obtained for 83 (55%) patients. The mean dose of growth hormone at start of treatment was 0.21 IU/kg/week for 29 patients and 0.24 IU/week for 54 patients. Height gain was 2.41±1.19 z-scores, resulting in an adult height of -1.98±1.12 z-score (girls, -2.05±1.27 z-score; boys, -1.95±1.20 z-score). Patients who completed the treatment gained 2.40±1.13 z-score of height in 4.0±2.0 years. Most of the variation in height gain was explained by regression towards the mean, patients' characteristics, and delay in starting puberty. Conclusion- Nearly all our patients with idiopathic growth hormone deficiency treated with growth hormone were able to achieve their genetic height potential. Despite starting treatment late, they managed to gain 2.40±1.13 HAZ score in height and the final height for majority of them (61.5%) was within the target height range. It was found that the final height had good correlation with the prediction height, HAZ score at beginning of treatment, change of HAZ score during the puberty, duration of treatment with GH, and pubertal stage at the start of therapy.