Unveiling the impact of the SMARTCLAP project on habilitation.

This report summarises the SMARTCLAP research project, which employs a user-centred design approach to develop a revolutionary smart product service system. The system offers personalised motivation to encourage children with cerebral palsy to actively participate more during their occupational therapy sessions, while providing paediatric occupational therapists with an optimal tool to monitor children's progress from one session to another. The product service system developed includes of a smart wearable device called DigiClap used to interact with a serious game in an Augmented Reality environment.

Towards a multi-user experience approach to exploring key requirements to design smart habilitation devices for children with cerebral palsy.

Introduction: This paper takes a multi-stakeholder approach to generate key requirements to design smart habilitation devices for children with Cerebral Palsy. Four groups of different relevant stakeholders of smart-habilitation devices were approached to participate in this study, including children with Cerebral Palsy, their parents, occupational therapists, as well as technical specialists.

Methods: Profiles of children with Cerebral Palsy were generated to have a concrete idea of their needs and desires.

Eosinophilic fasciitis associated with hypereosinophilia, abnormal bone-marrow karyotype and inversion of chromosome 5.

We report the case of a male patient presenting with eosinophilia, pulmonary oedema and eosinophilic fasciitis (EF). He had the classic clinical appearance and magnetic resonance imaging of EF. Cytogenetic analysis of the bone marrow revealed a previously undescribed pericentric inversion of chromosome 5.

Two new mutations in the HIF2A gene associated with erythrocytosis.

Congenital or familial erythrocytosis/polycythemia can have many causes, and an emerging cause is genetic disruption of the oxygen-sensing pathway that regulates the () gene. More specifically, recent studies have identified erythrocytosis-associated mutations in the gene, which encodes for Hypoxia Inducible Factor-2α (HIF-2α), as well as in two genes that encode for proteins that regulate it, Prolyl Hydroxylase Domain protein 2 (PHD2) and the von Hippel Lindau tumor suppressor protein (VHL). We report here the identification of two new heterozygous missense mutations, M535T and F540L, both associated with erythrocytosis.