A novel 506kb deletion causing εγδβ thalassemia.

We describe a novel deletion causing εγδβ thalassemia in a Pakistani family. The Pakistani deletion is 506kb in length, and the second largest εγδβ thalassemia deletion reported to date. It removes the entire β globin gene (HBB) cluster, extending from 431kb upstream to 75kb downstream of the ε globin gene (HBE).

Whole-exome-sequencing-based discovery of human FADD deficiency.

Germline mutations in FASL and FAS impair Fas-dependent apoptosis and cause recessively or dominantly inherited autoimmune lymphoproliferative syndrome (ALPS). Patients with ALPS typically present with no other clinical phenotype. We investigated a large, consanguineous, multiplex kindred in which biological features of ALPS were found in the context of severe bacterial and viral disease, recurrent hepatopathy and encephalopathy, and cardiac malformations.

Decreasing paediatric prescribing errors in a district general hospital.

Background: In paediatric inpatients, medication errors occur as frequently as 1 in 4.2 drug orders, with up to 80% of these being prescribing errors.

Context: The children's unit of a district general hospital in West Yorkshire, UK.