Taf1 knockout is lethal in embryonic male mice and heterozygous females show weight and movement disorders.

The TATA box-binding protein-associated factor 1 (TAF1) is a ubiquitously expressed protein and the largest subunit of the basal transcription factor TFIID, which plays a key role in initiation of RNA polymerase II-dependent transcription. TAF1 missense variants in human males cause X-linked intellectual disability, a neurodevelopmental disorder, and TAF1 is dysregulated in X-linked dystonia-parkinsonism, a neurodegenerative disorder. However, this field has lacked a genetic mouse model of TAF1 disease to explore its mechanism in mammals and treatments.

Effectiveness of permissive weight bearing in surgically treated trauma patients with peri- and intra-articular fractures of the lower extremities: a prospective comparative multicenter cohort study.

Purpose: The aim of the present study was to investigate the effectiveness of a novel approach involving permissive weight bearing (PWB) in surgically treated trauma patients with peri- and intra-articular fractures of the lower extremities.

Methods: Prospective comparative multicenter cohort study in one level 1 trauma center and five level 2 trauma centers. Surgically treated trauma patients with peri- and intra-articular fractures of the lower extremities were included.

Pregestational Diabetes and Congenital Heart Defects.

Studies have consistently shown a significant increase in the risk of congenital heart defects in the offspring of diabetic mothers compared with those of nondiabetic pregnancies. Evidence points that all types of pregestational diabetes have the capacity of generating cardiac malformations in a more accentuated manner than in gestational diabetes, and there seems to be an increased risk for all congenital heart defects phenotypes in the presence of maternal diabetes. Currently, the application of some therapies is under study in an attempt to reduce the risks inherent to diabetic pregnancies; however, it has not yet been possible to fully prove their effectiveness.

Diversity matters: the other doctor within the Dutch academic healthcare system.

Introduction: Over the past year, there has been a worldwide increase in the focus on systemic discrimination and inequitable practices within different societies, particularly concerning race and ethnicity. The inherent (experience of) inequity in racism is notonly limited to individuals but also found in different domains of societal structures, including healthcare and academia. In academia and healthcare organisations, junior Black and Minority Ethnic (BAME) doctors and students regularly find themselves caught between the leaky pipeline phenomenon and hierarchically dependent positions in academic healthcare settings.