Centriole structural integrity defects are a crucial feature of Hydrolethalus Syndrome.

Hydrolethalus Syndrome (HLS) is a lethal, autosomal recessive ciliopathy caused by the mutation of the conserved centriole protein HYLS1. However, how HYLS1 facilitates the centriole-based templating of cilia is poorly understood. Here, we show that mice harboring the HYLS1 disease mutation die shortly after birth and exhibit developmental defects that recapitulate several manifestations of the human disease.

Providing Emotional Support and Physical Comfort During a Time of Social Distancing: A Thematic Analysis of Doulas' Experiences During the Coronavirus Pandemic.

Doulas are trained, non-clinical professionals that provide a continuum of support for mothers. An interpretive phenomenological approach was used to explore the professional experiences of doulas ( = 17) during the COVID-19 pandemic in the US. Data were collected using brief intake surveys, in-depth semi-structured interviews, and an online discussion group.

Outcomes of Revision Arthroscopic Posterior Labral Repair and Capsulorrhaphy: A Systematic Review.

Background: Failure rates up to 14% have been reported after arthroscopic posterior capsulolabral repair. It is unknown if revision arthroscopic posterior capsulolabral stabilization has inferior restoration of stability and return to sport when compared with primary repair. Optimal management of failed posterior capsulolabral stabilization is unknown.

Trisomy 21 induces pericentrosomal crowding delaying primary ciliogenesis and mouse cerebellar development.

Trisomy 21, the genetic cause of Down syndrome, disrupts primary cilia formation and function, in part through elevated Pericentrin, a centrosome protein encoded on chromosome 21. Yet how trisomy 21 and elevated Pericentrin disrupt cilia-related molecules and pathways, and the in vivo phenotypic relevance remain unclear. Utilizing ciliogenesis time course experiments combined with light microscopy and electron tomography, we reveal that chromosome 21 polyploidy elevates Pericentrin and microtubules away from the centrosome that corral MyosinVA and EHD1, delaying ciliary membrane delivery and mother centriole uncapping essential for ciliogenesis.