When to perform transcranial Doppler to predict cerebral hyperperfusion after carotid endarterectomy?

SummaryCerebral hyperperfusion syndrome (CHS) after carotid endarterectomy (CEA) is a potential life-threatening disease. Identification of patients at risk for CHS commonly takes place with use of intra-operative transcranial Doppler (TCD), but is associated with both false positive and false negative results. We aimed to determine the diagnostic value for predicting CHS, by adding a TCD measurement in the early post-operative phase after CEA.We retrospectively included 72 patients who underwent CEA between January 2004 and August 2010 and in whom both intra- and post-operative TCD of the ipsilateral middle cerebral artery monitoring were performed. Twelve patients (17%) had an intra-operative mean blood flow velocity (Vmean) increase >100% and 13 patients (18%) a post-operative Vmean increase of >100%. In 5 patients (7%) CHS was diagnosed; 2 of those had an intra-operative Vmean increase of >100% and all 5 a post-operative Vmean increase >100%. This results in a positive predictive value of 17% for the intra-operative and 38% for the post-operative measurement.In conclusion, a post-operative increase of the mean velocity in the ipsilateral middle cerebral artery of >100% as measured by TCD is superior to an intra-operative velocity increase, for the identification of patients at risk for the development of CHS after CEA

De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry

Hydrocephalus is one of the most prevalent form of developmental central nervous system (CNS) malformations. Cerebrospinal fluid (CSF) flow depends on both heartbeat and body movement. Furthermore, it has been shown that CSF flow within and across brain ventricles depends on cilia motility of the ependymal cells lining the brain ventricles, which play a crucial role to maintain patency of the narrow sites of CSF passage during brain formation in mice. Using whole-exome and whole-genome sequencing, we identified an autosomal-dominant cause of a distinct motile ciliopathy related to defective ciliogenesis of the ependymal cilia in six individuals. Heterozygous de novo mutations in FOXJ1, which encodes a well-known member of the forkhead transcription factors important for ciliogenesis of motile cilia, cause a motile ciliopathy that is characterized by hydrocephalus internus, chronic destructive airway disease, and randomization of left/right body asymmetry. Mutant respiratory epithelial cells are unable to generate a fluid flow and exhibit a reduced number of cilia per cell, as documented by high-speed video microscopy (HVMA), transmission electron microscopy (TEM), and immunofluorescence analysis (IF). TEM and IF demonstrate mislocalized basal bodies. In line with this finding, the focal adhesion protein PTK2 displays aberrant localization in the cytoplasm of the mutant respiratory epithelial cells