Effectiveness of transitional care in Inflammatory Bowel Disease; Development, Validation, and Initial outcomes of a Transition Success Score.

Background And Aims: The effectiveness of transition programs from paediatric to adult healthcare in adolescents with inflammatory bowel disease is not clear, as prospective studies using validated outcome measures for transition are lacking. This study aimed to develop and validate a quantitative Transition Success Score, and to apply it in a multicenter setting to assess the effectiveness of transitional care.

Methods: The Top 10 outcome items related to successful transition, identified through an international Delphi study with IBD stakeholders, were integrated into a generic questionnaire, the Transition Success Score.

Reply to Bouva et al. Comment on "Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone. 2023, , 66".

We thank the authors for their comments [...

Nanosecond Carrier Lifetime of Hexagonal Ge.

Hexagonal Si Ge with suitable alloy composition promises to become a new silicon compatible direct bandgap family of semiconductors. Theoretical calculations, however, predict that the binary end point of this family, the bulk hex-Ge crystal, is only weakly dipole active. This is in contrast to hex-Si Ge , where translation symmetry is broken by alloy disorder, permitting efficient light emission.

AAGGG repeat expansions trigger -independent synaptic dysregulation in human CANVAS neurons.

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a recessively inherited neurodegenerative disorder caused by intronic biallelic, nonreference CCCTT/AAGGG repeat expansions within . To investigate how these repeats cause disease, we generated patient induced pluripotent stem cell-derived neurons (iNeurons). CCCTT/AAGGG repeat expansions do not alter neuronal splicing, expression, or DNA repair pathway function.

Neuropathological hallmarks in the post-mortem retina of neurodegenerative diseases.

The retina is increasingly recognised as a potential source of biomarkers for neurodegenerative diseases. Hallmark protein aggregates in the retinal neuronal tissue could be imaged through light non-invasively. Post-mortem studies have already shown the presence of specific hallmark proteins in Alzheimer's disease, primary tauopathies, synucleinopathies and frontotemporal lobar degeneration.