No abstract

Genetic variation within the dopamine D4 receptor (DRD4) gene has been implicated in many neuropsychiatric disorders and behavioral traits. This variation includes the extensively studied exon 3 variably numbered tandem repeat (VNTR), and several 5' polymorphisms including a120-bp duplication and two single-nucleotide polymorphisms at -521 C/T (rs1800955) and -616 C/G (rs747302). Several reports have provided evidence for a functional role for some of these variants using in vitro techniques. This study investigated the functionality of these polymorphisms in 28 human post-mortem brain tissue samples by quantifying DRD4 mRNA expression in relation to genotype. No statistically significant relationship between genotype and mRNA expression levels was found for these four polymorphisms although a weak trend toward the 7-repeat of the exon 3 VNTR reducing DRD4 mRNA expression was found. Employing post-mortem brain tissue, rather than using in vitro techniques may provide a more relevant paradigm to study functional effects of reported risk alleles.

Paediatric obstructive sleep apnoea (OSA) is characterised by stertor, intermittent oxygen desaturation and repeated nocturnal awakening. 1 If left untreated, it can have significant repercussions, such as cor pulmonale, growth and developmental delay. 2 Adenotonsillectomy has proven to be effective in improving OSA outcomes in the majority of children. 3 Tonsillectomy (with or without adenoidectomy) is the most frequent ENT procedure comprising of 17% of the workload in the UK. 4 There has been an effort in recent years to improve day case surgery rates for these patients and to ensure safe delivery of services at secondary and tertiary centres within the UK for children with OSA. 5 Improvements in patient care will therefore have a widereaching impact on children and their families. Knowledge of post-operative complication rates for childrenwith OSA undergoing adenotonsillectomy is essential to be able to deliver safe and appropriate care and to support informed consent and shared decision-making. Age and comorbidities have been investigated to varying degrees to determine whether day case surgery and surgical delivery in secondary care centres are safe. [6][7][8] Since 2015, our paediatric tertiary centre has undergone a 3-stage service improvement process aimed at improving the safety of day case adenotonsillectomy for paediatric patients with OSA. We present our data and outcomes from our tertiary centre experience which has been used to help create the national strategy, released in 2019, for managing paediatric patients with OSA undergoing adenotonsillectomy.