Evaluation and management of nonsyndromic congenital hearing loss
CURRENT OPINION IN OTOLARYNGOLOGY & HEAD AND NECK SURGERY
Authors: Funamura, Jamie L.
Purpose of review Nonsyndromic congenital hearing loss represents the largest proportion of paediatric sensorineural hearing loss. The optimal evaluation and management of affected patients remains clinically challenging. Current controversies in the diagnostic work-up of nonsyndromic congenital hearing loss are presented in this review. Recent findings The improved diagnostic yield of comprehensive genetic testing due to new sequencing technologies is changing the diagnostic for congenital hearing loss. Concerns for both ionizing radiation and general anaesthetic exposure are also driving shifts in imaging modality preferences for infants and toddlers. Summary A thoughtful systematic, targeted approach taking into consideration the audiologic phenotype of the patient is recommended for the work-up of nonsyndromic congenital hearing loss.
Integrated whole genome microarray analysis and immunohistochemical assay identifies COL11A1, GJB2 and CTRL as predictive biomarkers for pancreatic cancer
CANCER CELL INTERNATIONAL
Authors: Sun, Defeng; Jin, Haoyi; Zhang, Jun; Tan, Xiaodong
BackgroundPancreatic cancer is characterized by its unsatisfying early detection rate, rapid disease progression and poor prognosis. Further studies on molecular mechanism and novel predictive biomarkers for pancreatic cancer based on a large sample volume are required.MethodsMultiple bioinformatic analysis tools were utilized for identification and characterization of differentially expressed genes (DEGs) from a merged microarray data (100 pancreatic cancer samples and 62 normal samples). Data from the GEO and TCGA database was utilized to validate the diagnostic and prognostic value of the top 5 upregulated/downregulated DEGs. Immunohistochemical assay (46 paired pancreatic and para- cancerous samples) was utilized to validate the expression and prognostic value of COL11A1, GJB2 and CTRL from the identified DEGs.ResultsA total number of 300 DEGs were identified from the merged microarray data of 100 pancreatic cancer samples and 62 normal samples. These DEGs were closely correlated with the biological characteristics of pancreatic cancer. The top 5 upregulated/downregulated DEGs showed good individual diagnostic/prognostic value and better combined diagnostic/prognostic value. Validation of COL11A1, GJB2 and CTRL with immunohistochemical assay showed consistent expression level with bioinformatics analysis and promising prognostic value.ConclusionsMerged microarray data with bigger sample volume could reflect the biological characteristics of pancreatic cancer more effectively and accurately. COL11A1, GJB2 and CTRL are novel predictive biomarkers for pancreatic cancer.