Prenatal diagnosis of SMPD4 loss - A neurodevelopmental disorder with microcephaly, arthrogryposis and structural brain anomalies.

SMPD4 loss is a rare neurodevelopmental disorder that leads to severe mental and physical disability and early death in infancy. Most cases of this genetic condition have been diagnosed postnatally. This article focuses on the prenatal findings of affected fetuses.

Cumulative incidence of permanent stoma after sphincter preserving low anterior resection of mid and low rectal cancer.

Background: Changes in the treatment of rectal cancer during the past decades have led to an increase in sphincter preservation with a consecutive decline in abdominoperineal resection rates.

Objective: The aim of this study was to analyze the cumulative incidence of permanent stoma in patients undergoing sphincter-preserving resection of mid and low rectal cancer.

Design: This study is a retrospective analysis of prospectively collected data.

Education and training of young people who grew up with cochlear implants.

Aims: We want to provide new qualitative and quantitative data on the long-term impact of cochlear implantation (CI) on educational placement, vocational outcomes and employment status of hearing-impaired adolescents and young adults.

Methods: 52 cochlear implant users (age: 12-21 years) and a control group of 155 normal-hearing peers participated in structured interviews on their educational level, achievement, satisfaction with their vocational placement and correspondence between career aspiration and actual occupation.

Results: The educational level of CI-using pupils did not differ from the Austrian population.