Patients received prompt laryngeal visualization. However, we observed high rates of diagnostic error. Initial diagnoses of LPR, edema, infection, and allergy appear to be particularly likely to be revised on further evaluation; and scar, sulcus, atrophy, and paresis are likely to be overlooked.
BACKGROUND
The majority of cleft lip with or without cleft palate (CL/P) cases appear as an isolated, non-syndromic entity (NSCLP). With the advent of next generation sequencing, whole exome sequencing (WES) has been used to identify single nucleotide variants and insertion/deletions which cause or increase risk of NSCLP. However, to our knowledge, there are no published studies using WES in NSCLP to investigate copy number changes (CNCs), which are a major component of human genetic variation. Our study aimed to identify CNCs associated with NSCLP in a Honduran population using WES.
METHODS
WES was performed on two to four members of 27 multiplex Honduran families. CNCs were identified using two algorithms, CoNIFER and XHMM. Priority was given to CNCs that were identified in more than one patient and had variant frequencies of less than 5% in reference data sets.
RESULTS
WES completion was defined as >90% of the WES target at >8× coverage and >80% of the WES target at >20× coverage. 24 CNCs that met our inclusion criteria were identified by both CoNIFER and XHMM. These CNCs were confirmed using qPCR. Pedigree analysis produced three CNCs corresponding to ADH7, AHR, and CRYZ segregating with NSCLP. Two of the three CNCs implicate genes, AHR and ADH7, whose known biological functions could plausibly play a role in NSCLP.
CONCLUSIONS
WES can be used to detect candidate CNCs that may be involved in the pathophysiology of NSCLP.
These results demonstrate the early functional neuroprotective effects of anesthetic preconditioning in ICH and suggest that methods of preconditioning that afford protection in ischemia may also provide protection in ICH.
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