GWAS reveals loci associated with velopharyngeal dysfunction.

Velopharyngeal dysfunction (VPD) occurs when the muscular soft palate (velum) and lateral pharyngeal walls are physically unable to separate the oral and nasal cavities during speech production leading to hypernasality and abnormal speech reduction. Because VPD is often associated with overt or submucous cleft palate, it could be present as a subclinical phenotype in families with a history of orofacial clefting. A key assumption to this model is that the overt and subclinical manifestations of the orofacial cleft phenotype exist on a continuum and therefore share common etiological factors.

Soil organic carbon pool's contribution to climate change mitigation on marginal land of a Mediterranean montane area in Italy.

To evaluate the mitigation potential provided by the SOC pool, we investigated the impact of woody encroachment in the 0-30 cm depth of mineral soil across a natural succession from abandoned pastures and croplands to broadleaves forests on the central Apennine in Italy. In parallel, to assess the effect of the land use change (LUC) from cropland to pasture, a series of pastures established on former agricultural sites, abandoned at different time in the past, were also investigated. Our results show that woody encroachment on former pastures and croplands contributes largely to mitigate climate change, with an increase of the original SOC stock of 45% (40.

Late Leakage of the Aortic Stump After Removal of an Infected Graft: Successful Surgical Treatment.

The residual stump after excision of an infected aortic graft may be subject to acute blowout due to chronic mechanical stress on a weak arterial wall. We present a case of late aortic stump disruption that required revision after 12 months from graft removal. Our strategy consisted of avoiding reexposure of the pararenal aorta by creating a new supraceliac stump with healthy aortic wall after antegrade visceral debranching.

A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13.

Orofacial clefts (OFCs), which include non-syndromic cleft lip with or without cleft palate (CL/P), are among the most common birth defects in humans, affecting approximately 1 in 700 newborns. CL/P is phenotypically heterogeneous and has a complex etiology caused by genetic and environmental factors. Previous genome-wide association studies (GWASs) have identified at least 15 risk loci for CL/P.