Coexistence of junctional epidermolysis bullosa, autosomal recessive deafness type 57, and Angelman syndrome: A case report.

Key Clinical Message: The presence of more than one genetic/genomic disorder is not uncommon. It is therefore essential to continuously consider new signs and symptoms over time. Administration of gene therapy could be extremely difficult in particular situations.

Relationship Between Epileptic Activity and Developmental Outcome in KCNQ2-Related Epilepsy.

Background: We aim to describe a cohort of patients with KCNQ2-related epilepsy and evaluate the relationship between epileptic activity and developmental outcome. This topic is relevant for the selection of clinical end points in future clinical trials, since cessation of seizures may or may not be the most important outcome.

Methods: This retrospective cohort study of children with self-limited (familial) neonatal epilepsy and developmental and epileptic encephalopathy due to pathogenic variants in KCNQ2 was conducted between 2019 and 2021.

Data analytics for predicting quality of life changes in head and neck cancer survivors: a scoping review.

Head and neck cancer is the seventh most common cancer worldwide. The incidence of this cancer is increasing, but at the same time, the cancer-related mortality rate has decreased over time, leaving more head and neck cancer survivors. More emphasis is needed on quality-of-life research in the head and neck cancer field to improve their daily lives and reduce the disease and treatment response burden.

Somatisation in primary care: experiences of primary care physicians involved in a training program and in a randomised controlled trial.

Background: A new intervention aimed at managing patients with medically unexplained symptoms (MUS) based on a specific set of communication techniques was developed, and tested in a cluster randomised clinical trial. Due to the modest results obtained and in order to improve our intervention we need to know the GPs' attitudes towards patients with MUS, their experience, expectations and the utility of the communication techniques we proposed and the feasibility of implementing them. Physicians who took part in 2 different training programs and in a randomised controlled trial (RCT) for patients with MUS were questioned to ascertain the reasons for the doctors' participation in the trial and the attitudes, experiences and expectations of GPs about the intervention.